| ARSACS (due to SACS) |
rs281865117 |
NM_014363.6(SACS):c.8844del (p.Ile2949fs) |
| ARSACS (due to SACS) |
rs281865118 |
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) |
| ARSACS (due to SACS) |
rs281865119 |
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) |
| ARSACS (due to SACS) |
rs281865120 |
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) |
| Achondrogenesis (due to SLC26A2) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Achondrogenesis (due to SLC26A2) |
rs104893918 |
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) |
| Achondrogenesis (due to SLC26A2) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Achondrogenesis (due to SLC26A2) |
rs104893924 |
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) |
| Achondrogenesis (due to SLC26A2) |
rs786200881 |
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) |
| Achromatopsia (due to ATF6) |
rs797045170 |
NM_007348.4(ATF6):c.82+5G>T |
| Achromatopsia (due to CNGA3) |
rs104893614 |
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) |
| Achromatopsia (due to CNGA3) |
rs104893615 |
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) |
| Achromatopsia (due to CNGA3) |
rs104893617 |
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) |
| Achromatopsia (due to CNGA3) |
rs104893619 |
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) |
| Achromatopsia (due to CNGA3) |
rs104893620 |
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) |
| Achromatopsia (due to CNGA3) |
rs116448158 |
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) |
| Achromatopsia (due to CNGA3) |
rs141386891 |
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) |
| Achromatopsia (due to CNGA3) |
rs147415641 |
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) |
| Achromatopsia (due to CNGB3) |
rs147876778 |
NM_019098.4(CNGB3):c.1208G>A |
| Achromatopsia (due to CNGB3) |
rs200805087 |
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) |
| Achromatopsia (due to CNGB3) |
rs267606739 |
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) |
| Achromatopsia (due to CNGB3) |
rs372006750 |
NM_019098.5(CNGB3):c.1578+1G>A |
| Achromatopsia (due to CNGB3) |
rs373862340 |
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) |
| Achromatopsia (due to CNGB3) |
rs397515360 |
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) |
| Achromatopsia (due to CNGB3) |
rs775796581 |
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) |
| Acute fatty liver (due to HADHA) |
rs137852769 |
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs121908427 |
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs121908429 |
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs199747285 |
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs515726215 |
NM_001365088.1(SLC12A6):c.2436+1del |
| Alkaptonuria (due to HGD) |
rs120074170 |
NM_000187.4(HGD):c.899T>G (p.Val300Gly) |
| Alkaptonuria (due to HGD) |
rs120074171 |
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) |
| Alkaptonuria (due to HGD) |
rs120074172 |
NM_000187.4(HGD):c.1112A>G (p.His371Arg) |
| Alkaptonuria (due to HGD) |
rs120074173 |
NM_000187.4(HGD):c.1102A>G (p.Met368Val) |
| Alkaptonuria (due to HGD) |
rs120074174 |
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) |
| Alkaptonuria (due to HGD) |
rs28941783 |
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) |
| Alkaptonuria (due to HGD) |
rs28942100 |
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) |
| Alkaptonuria (due to HGD) |
rs397515346 |
NM_000187.4(HGD):c.457dup (p.Asp153fs) |
| Alkaptonuria (due to HGD) |
rs397515347 |
NM_000187.4(HGD):c.16-1G>A |
| Alkaptonuria (due to HGD) |
rs397515517 |
NM_000187.4(HGD):c.175del (p.Ser59fs) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs11558261 |
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs121912714 |
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs199422209 |
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs199422211 |
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs199422213 |
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs28929470 |
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs28929474 |
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs28931570 |
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs55819880 |
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs61761869 |
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) |
| Alpha-1-antitrypsin deficiency (due to SERPINA1) |
rs775982338 |
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) |
| Andermann syndrome (due to SLC12A6) |
rs35583475 |
NM_001365088.1(SLC12A6):c.963C>T, Benign |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs1057516760 |
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs1057516980 |
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs1057517140 |
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs1057520640 |
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs112805604 |
NM_000051.4(ATM):c.185+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs1137887 |
NM_000051.4(ATM):c.2250G>A (p.Lys750=) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs121434216 |
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs121434219 |
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs121434220 |
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs121434222 |
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs121434223 |
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs138941496 |
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs139770721 |
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs17174393 |
NM_000051.4(ATM):c.8786+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs17174393 |
NM_000051.4(ATM):c.8786+1G>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs17174393 |
NM_000051.4(ATM):c.8786+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs192810283 |
NM_000051.4(ATM):c.3077+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs200196781 |
NM_000051.4(ATM):c.3993+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs201089102 |
NM_000051.4(ATM):c.1065+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs202206540 |
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs267606669 |
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs28904921 |
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs371638537 |
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs376603775 |
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs377349459 |
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs397514577 |
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs532480170 |
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs557012154 |
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs55861249 |
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs564652222 |
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587776547 |
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587776550 |
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587776551 |
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587776552 |
NM_000051.3(ATM):c.2839-579_2839-576del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587778077 |
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587778080 |
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779813 |
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779815 |
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779818 |
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779822 |
NM_000051.4(ATM):c.2502dup (p.Val835fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779826 |
NM_000051.4(ATM):c.2638+2T>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779833 |
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779834 |
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779836 |
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779844 |
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779846 |
NM_000051.4(ATM):c.5290del (p.Leu1764fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779852 |
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779856 |
NM_000051.4(ATM):c.6572+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779859 |
NM_000051.4(ATM):c.6976-10_6989del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779861 |
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779865 |
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779866 |
NM_000051.4(ATM):c.7630-2A>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779869 |
NM_000051.4(ATM):c.7998dup (p.Met2667fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587779872 |
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587780612 |
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587780624 |
NM_000051.4(ATM):c.478_482del (p.Ser160fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587780639 |
NM_000051.4(ATM):c.7788G>A (p.Glu2596_Asp2597=) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587780640 |
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587780645 |
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781299 |
NM_000051.4(ATM):c.6997dup |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781302 |
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781347 |
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781363 |
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781511 |
NM_000051.4(ATM):c.967A>G (p.Ile323Val) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781545 |
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781558 |
NM_000051.4(ATM):c.2921+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781558 |
NM_000051.4(ATM):c.2921+1G>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781558 |
NM_000051.4(ATM):c.2921+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781584 |
NM_000051.4(ATM):c.6095+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781597 |
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781653 |
NM_000051.4(ATM):c.4373del (p.Gly1458fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781672 |
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781698 |
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781722 |
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781752 |
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781754 |
NM_000051.4(ATM):c.4938del (p.Lys1646fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781776 |
NM_000051.4(ATM):c.1355del (p.Thr452fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781823 |
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781831 |
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781837 |
NM_000051.4(ATM):c.8397del (p.Gln2800fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781894 |
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781905 |
NM_000051.4(ATM):c.7517_7520del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781905 |
NM_000051.4(ATM):c.7517_7520del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781905 |
NM_000051.4(ATM):c.7519_7520del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781911 |
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781927 |
NM_000051.4(ATM):c.4776+2T>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781950 |
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781967 |
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781971 |
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781978 |
NM_000051.4(ATM):c.790del (p.Tyr264fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587781994 |
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782054 |
NM_000051.4(ATM):c.4227del (p.Ser1411fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782085 |
NM_000051.4(ATM):c.1158del (p.Lys387fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782103 |
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782114 |
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782124 |
NM_000051.4(ATM):c.1898+2T>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782192 |
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782198 |
NM_000051.4(ATM):c.5910del (p.Glu1971fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782202 |
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782276 |
NM_000051.4(ATM):c.3994-2A>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782280 |
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782292 |
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782403 |
NM_000051.4(ATM):c.6976-2A>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782525 |
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782558 |
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782558 |
NM_000051.4(ATM):c.8432del (p.Lys2811fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782558 |
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782652 |
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782660 |
NM_000051.4(ATM):c.717_720del (p.Phe239fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782719 |
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782812 |
NM_000051.4(ATM):c.5396del (p.Ser1799fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782847 |
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782861 |
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs587782861 |
NM_000051.4(ATM):c.3627del (p.Phe1209fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881293 |
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881294 |
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881295 |
NM_000051.4(ATM):c.8418+5_8418+8del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881297 |
NM_000051.4(ATM):c.549_550del (p.His183fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881299 |
NM_000051.4(ATM):c.2564dup (p.Met855fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881300 |
NM_000051.4(ATM):c.2880del (p.Leu961fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881302 |
NM_000051.4(ATM):c.3526del (p.Leu1176fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881303 |
NM_000051.4(ATM):c.237del (p.Lys79fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881304 |
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881309 |
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881310 |
NM_000051.4(ATM):c.5320-5_5320-2del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881326 |
NM_000051.4(ATM):c.8584+2T>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881333 |
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881336 |
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881346 |
NM_000051.4(ATM):c.2251-10T>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881347 |
NM_000051.4(ATM):c.2376+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881348 |
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881357 |
NM_000051.4(ATM):c.3154-2A>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881359 |
NM_000051.4(ATM):c.1A>C (p.Met1Leu) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881359 |
NM_000051.4(ATM):c.1A>G (p.Met1Val) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881364 |
NM_000051.4(ATM):c.3747-1G>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881369 |
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881384 |
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881386 |
NM_000051.4(ATM):c.8988-1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881388 |
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881389 |
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs730881391 |
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs747727055 |
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs748634900 |
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs748840480 |
NM_000051.4(ATM):c.901+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs749036865 |
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs750663117 |
NM_000051.4(ATM):c.3078-1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs752135143 |
NM_000051.4(ATM):c.331+5G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs758814126 |
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs759520465 |
NM_000051.4(ATM):c.4437-1G>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs759965045 |
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs762083530 |
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs764389018 |
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs766533795 |
NM_000051.4(ATM):c.8418+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs768362387 |
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs769142993 |
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs770641163 |
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs771887195 |
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs772821016 |
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs772926890 |
NM_000051.4(ATM):c.1607+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs774925473 |
NM_000051.4(ATM):c.5763-1050A>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs777849257 |
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs778031266 |
NM_000051.4(ATM):c.6198+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs778269655 |
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs780619951 |
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs781404312 |
NM_000051.4(ATM):c.3G>A (p.Met1Ile) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786201675 |
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786201689 |
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786201693 |
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786201957 |
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202016 |
NM_000051.4(ATM):c.6006+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202087 |
NM_000051.4(ATM):c.8988-2A>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202350 |
NM_000051.4(ATM):c.4052del (p.Leu1351fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202474 |
NM_000051.4(ATM):c.1880dup (p.Gln628fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202547 |
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202608 |
NM_000051.4(ATM):c.2754del (p.Phe918fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202695 |
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202743 |
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202783 |
NM_000051.4(ATM):c.2466+1del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202800 |
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202814 |
NM_000051.4(ATM):c.5765del (p.Pro1922fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786202826 |
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203008 |
NM_000051.4(ATM):c.6228del (p.Leu2077fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203054 |
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203059 |
NM_000051.4(ATM):c.7629+2T>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203166 |
NM_000051.4(ATM):c.1249del (p.Thr417fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203272 |
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203309 |
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203370 |
NM_000051.4(ATM):c.138_141del (p.His46fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203421 |
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203507 |
NM_000051.4(ATM):c.3760del (p.Val1254fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203606 |
NM_000051.4(ATM):c.2T>C (p.Met1Thr) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203796 |
NM_000051.4(ATM):c.5497-2A>G |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786203888 |
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204088 |
NM_000051.4(ATM):c.72+1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204433 |
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204543 |
NM_000051.4(ATM):c.640del (p.Ser214fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204543 |
NM_000051.4(ATM):c.640dup (p.Ser214fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204726 |
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204737 |
NM_000051.4(ATM):c.1524del (p.Gly509fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs786204751 |
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs796051858 |
NM_000051.4(ATM):c.496+5G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs797045030 |
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs797045114 |
NM_000051.3(ATM):c.4111delG |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs863224440 |
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs863224461 |
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs863224462 |
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs863224463 |
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs863225466 |
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs864622251 |
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs864622290 |
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs864622326 |
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs864622389 |
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs864622416 |
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs869312756 |
NM_000051.4(ATM):c.5762+1G>T |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658163 |
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658502 |
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658512 |
NM_000051.4(ATM):c.7088del (p.Lys2363fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658542 |
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658740 |
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876658899 |
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876659350 |
NM_000051.4(ATM):c.8010+1del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876659450 |
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876659672 |
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876659710 |
NM_000051.4(ATM):c.2251-1G>C |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660041 |
NM_000051.4(ATM):c.7629_7629+4del |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660235 |
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660245 |
NM_000051.4(ATM):c.5497-1G>A |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660382 |
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660485 |
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660567 |
NM_000051.4(ATM):c.8802del (p.Met2935fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660741 |
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660842 |
NM_000051.4(ATM):c.15dup (p.Asn6Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660865 |
NM_000051.4(ATM):c.3850del (p.Thr1284fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs876660933 |
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs878853490 |
NM_000051.4(ATM):c.192del (p.Leu64fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs879254036 |
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs879254093 |
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) |
| Ataxia-telangiectasia syndrome (due to ATM) |
rs886041340 |
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852944 |
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852945 |
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852946 |
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852947 |
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852948 |
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852949 |
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852950 |
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs141103838 |
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs146649803 |
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs148617572 |
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs180675584 |
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs199531851 |
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs200179145 |
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs200391019 |
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs200511261 |
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs201082169 |
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs28937907 |
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs369925690 |
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124475 |
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124478 |
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124483 |
NM_138694.4(PKHD1):c.353del (p.Ser118fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124487 |
NM_138694.4(PKHD1):c.5236+1G>A |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124495 |
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124496 |
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124498 |
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124500 |
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124501 |
NM_138694.4(PKHD1):c.930del (p.Thr311fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124502 |
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124503 |
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs727504089 |
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs727504096 |
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs746838237 |
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs746972457 |
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs748365248 |
NM_138694.4(PKHD1):c.707+1G>A |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs754392766 |
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs760222236 |
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs771180444 |
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs773136605 |
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs778537772 |
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs781368899 |
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs786204241 |
NM_138694.4(PKHD1):c.8303-1G>A |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs786204588 |
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs786204688 |
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs794727566 |
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs797044607 |
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs797044713 |
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs797045101 |
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) |
| Autosomal Recessive Polycystic Kidney Disease (due to PKHD1) |
rs863224528 |
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs113624356 |
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs121917777 |
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs200688985 |
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs35520756 |
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs587777829 |
NM_024649.5(BBS1):c.432+1G>A |
| Bardet-Biedl Syndrome (due to BBS1) |
rs794727006 |
NM_024649.5(BBS1):c.887del (p.Ile296fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs148374859 |
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs549625604 |
NM_024685.4(BBS10):c.271dup (p.Cys91fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs727503818 |
NM_024685.4(BBS10):c.1091del (p.Asn364fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs761101213 |
NM_024685.4(BBS10):c.687del (p.Val230fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs768933093 |
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs863224522 |
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs886043841 |
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs121908174 |
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs121908175 |
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs121908177 |
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs121908178 |
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs121908179 |
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs138043021 |
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs193922710 |
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs193922711 |
NM_031885.5(BBS2):c.1770del (p.Phe590fs) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs201196733 |
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) |
| Bardet-Biedl Syndrome (due to BBS2) |
rs770258677 |
NM_031885.5(BBS2):c.661del (p.Leu221fs) |
| Bardet-Biedl Syndrome (due to BBS4) |
rs113994190 |
NM_033028.5(BBS4):c.220+1G>C |
| Bardet-Biedl Syndrome (due to BBS5) |
rs786205636 |
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) |
| Bardet-Biedl Syndrome (due to BBS7) |
rs119466002 |
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) |
| Bardet-Biedl Syndrome (due to BBS7) |
rs760165634 |
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) |
| Bardet-Biedl Syndrome (due to BBS7) |
rs863224530 |
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) |
| Bardet-Biedl Syndrome (due to BBS9) |
rs606231137 |
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) |
| Bardet-Biedl Syndrome (due to BBS9) |
rs762511626 |
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) |
| Bardet-Biedl Syndrome (due to BBS9) |
rs863224534 |
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) |
| Bardet-Biedl Syndrome (due to MKKS) |
rs74315396 |
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) |
| Bardet-Biedl Syndrome (due to MKS1) |
rs201619500 |
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) |
| Bardet-Biedl Syndrome (due to SDCCAG8) |
rs397515335 |
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) |
| Bardet-Biedl Syndrome (due to SDCCAG8) |
rs797045948 |
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) |
| Bardet-Biedl Syndrome (due to TRIM32) |
rs111033571 |
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) |
| Bardet-Biedl Syndrome (due to TTC8) |
rs119103286 |
NM_144596.4(TTC8):c.489G>A (p.Thr163=) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs11549407 |
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs193922555 |
NM_000518.5(HBB):c.251del (p.Gly84fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs281864898 |
NM_000518.5(HBB):c.68_74del (p.Glu23fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs281864901 |
NM_000518.5(HBB):c.230del (p.Ala77fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs334 |
NM_000518.5(HBB):c.20A>T (p.Glu7Val) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33913413 |
NM_000518.5(HBB):c.316-3C>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33913413 |
NM_000518.5(HBB):c.316-3C>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33913712 |
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33914668 |
NM_000518.5(HBB):c.316-2A>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33914668 |
NM_000518.5(HBB):c.316-2A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33930165 |
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33931746 |
NM_000518.5(HBB):c.-78A>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33931746 |
NM_000518.5(HBB):c.-78A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33941377 |
NM_000518.5(HBB):c.-137C>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33941377 |
NM_000518.5(HBB):c.-137C>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33941849 |
NM_000518.5(HBB):c.2T>A (p.Met1Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33941849 |
NM_000518.5(HBB):c.2T>C (p.Met1Thr) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33941849 |
NM_000518.5(HBB):c.2T>G (p.Met1Arg) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33943001 |
NM_000518.5(HBB):c.93-1G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33943001 |
NM_000518.5(HBB):c.93-1G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33944208 |
NC_000011.10:g.5227159G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33944208 |
NM_000518.5(HBB):c.-138C>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33944208 |
NM_000518.5(HBB):c.-138C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33945777 |
NM_000518.5(HBB):c.315+1G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33945777 |
NM_000518.5(HBB):c.315+1G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33945777 |
NM_000518.5(HBB):c.315+1G>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33946267 |
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33946267 |
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33946267 |
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33950507 |
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33950507 |
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33951465 |
NM_000518.5(HBB):c.75T>A (p.Gly25=) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33952266 |
NM_000518.5(HBB):c.316-1G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33952266 |
NM_000518.5(HBB):c.316-1G>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33956879 |
NM_000518.5(HBB):c.92+2T>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33956879 |
NM_000518.5(HBB):c.92+2T>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33956879 |
NM_000518.5(HBB):c.92+2T>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33960103 |
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33960103 |
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33969677 |
NM_000518.5(HBB):c.328G>A (p.Val110Met) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33971440 |
NM_000518.5(HBB):c.92+1G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33971440 |
NM_000518.5(HBB):c.92+1G>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33972047 |
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33974936 |
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33978907 |
NM_000518.5(HBB):c.*110T>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33980857 |
NC_000011.10:g.5227101A>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33980857 |
NC_000011.10:g.5227101A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33980857 |
NM_000518.5(HBB):c.-80T>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33981098 |
NM_000518.5(HBB):c.-81A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33985472 |
NM_000518.5(HBB):c.*113A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33986703 |
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33994806 |
NM_000518.5(HBB):c.-136C>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33994806 |
NM_000518.5(HBB):c.-136C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34218908 |
NM_000518.5(HBB):c.226del (p.Leu76fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34305195 |
NM_000518.5(HBB):c.-50A>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34451549 |
NM_000518.5(HBB):c.316-197C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34527846 |
NM_000518.5(HBB):c.93-3T>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34563000 |
NM_000518.5(HBB):c.1A>G (p.Met1Val) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34598529 |
NM_000518.5(HBB):c.-79A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34690599 |
NM_000518.5(HBB):c.316-106C>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34716011 |
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34856846 |
NM_000518.5(HBB):c.36del (p.Thr13fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34889882 |
NM_000518.5(HBB):c.17_18del (p.Pro6fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34937014 |
NM_000518.5(HBB):c.287dup (p.Leu97fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34999973 |
NM_000518.5(HBB):c.-140C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35004220 |
NM_000518.5(HBB):c.93-21G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35256489 |
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35328027 |
NM_000518.5(HBB):c.316-146T>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35383398 |
NM_000518.5(HBB):c.45dup (p.Trp16fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35424040 |
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35456885 |
NM_000518.5(HBB):c.93-15T>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35497102 |
NM_000518.5(HBB):c.25_26del (p.Lys9fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35532010 |
NM_000518.5(HBB):c.85del (p.Leu29fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35532010 |
NM_000518.5(HBB):c.85dup (p.Leu29fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35662066 |
NM_000518.5(HBB):c.51del (p.Lys18fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35699606 |
NM_000518.5(HBB):c.27dup (p.Ser10fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35703285 |
NM_000518.5(HBB):c.316-14T>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35724775 |
NM_000518.5(HBB):c.92+6T>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35939430 |
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63749819 |
NM_000518.5(HBB):c.20del (p.Glu7fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63749960 |
NM_000518.5(HBB):c.46del (p.Trp16fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750128 |
NM_000518.5(HBB):c.155del (p.Pro52fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750283 |
NM_000518.5(HBB):c.315+2T>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750475 |
NM_000518.5(HBB):c.4del (p.Val2fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750513 |
NM_000518.5(HBB):c.93-2A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750532 |
NM_000518.5(HBB):c.112del (p.Trp38fs) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750783 |
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63751128 |
NM_000518.5(HBB):c.*111A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63751208 |
NM_000518.5(HBB):c.-151C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs80356820 |
NM_000518.5(HBB):c.135del (p.Phe46fs) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs104893868 |
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs104893871 |
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs150518260 |
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs28936383 |
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs398123262 |
NM_000232.5(SGCB):c.1A>G (p.Met1Val) |
| Beta-Sacroglycanopathy (due to SGCB) |
rs796065319 |
NM_000232.5(SGCB):c.32dup (p.Gln12fs) |
| Biotinidase deficiency (due to BTD) |
rs104893686 |
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) |
| Biotinidase deficiency (due to BTD) |
rs104893687 |
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) |
| Biotinidase deficiency (due to BTD) |
rs104893688 |
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) |
| Biotinidase deficiency (due to BTD) |
rs104893692 |
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) |
| Biotinidase deficiency (due to BTD) |
rs13073139 |
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) |
| Biotinidase deficiency (due to BTD) |
rs13078881 |
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) |
| Biotinidase deficiency (due to BTD) |
rs138818907 |
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) |
| Biotinidase deficiency (due to BTD) |
rs146015592 |
NM_001370658.1(BTD):c.410G>A (p.Arg137His) |
| Biotinidase deficiency (due to BTD) |
rs146136265 |
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) |
| Biotinidase deficiency (due to BTD) |
rs28934601 |
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) |
| Biotinidase deficiency (due to BTD) |
rs397507170 |
NM_001370658.1(BTD):c.124G>A (p.Val42Met) |
| Biotinidase deficiency (due to BTD) |
rs397507174 |
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) |
| Biotinidase deficiency (due to BTD) |
rs397507175 |
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) |
| Biotinidase deficiency (due to BTD) |
rs397507176 |
NM_001370658.1(BTD):c.908A>G (p.His303Arg) |
| Biotinidase deficiency (due to BTD) |
rs397514357 |
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) |
| Biotinidase deficiency (due to BTD) |
rs397514360 |
NM_001370658.1(BTD):c.399G>A (p.Glu133_Val134=) |
| Biotinidase deficiency (due to BTD) |
rs397514363 |
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) |
| Biotinidase deficiency (due to BTD) |
rs397514367 |
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) |
| Biotinidase deficiency (due to BTD) |
rs397514369 |
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) |
| Biotinidase deficiency (due to BTD) |
rs397514395 |
NM_001370658.1(BTD):c.873del (p.Ser291fs) |
| Biotinidase deficiency (due to BTD) |
rs397514398 |
NM_001370658.1(BTD):c.992del (p.Thr331fs) |
| Biotinidase deficiency (due to BTD) |
rs397514423 |
NM_001370658.1(BTD):c.1399del (p.Trp467fs) |
| Biotinidase deficiency (due to BTD) |
rs398123138 |
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) |
| Biotinidase deficiency (due to BTD) |
rs398123139 |
NM_001370658.1(BTD):c.566G>A (p.Arg189His) |
| Biotinidase deficiency (due to BTD) |
rs587783005 |
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) |
| Biotinidase deficiency (due to BTD) |
rs80338685 |
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) |
| Biotinidase deficiency (due to BTD) |
rs80338686 |
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) |
| Biotinidase deficiency (due to BTD) |
rs886041559 |
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) |
| Bloom syndrome (due to BLM) |
rs137853153 |
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) |
| Bloom syndrome (due to BLM) |
rs200389141 |
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) |
| Bloom syndrome (due to BLM) |
rs367543012 |
NM_000057.4(BLM):c.2407dup (p.Trp803fs) |
| Bloom syndrome (due to BLM) |
rs367543014 |
NM_000057.4(BLM):c.2923del (p.Gln975fs) |
| Bloom syndrome (due to BLM) |
rs367543017 |
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) |
| Bloom syndrome (due to BLM) |
rs367543024 |
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) |
| Bloom syndrome (due to BLM) |
rs367543029 |
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) |
| Bloom syndrome (due to BLM) |
rs367543035 |
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) |
| Bloom syndrome (due to BLM) |
rs367543036 |
NM_000057.4(BLM):c.2074+1G>T |
| Bloom syndrome (due to BLM) |
rs587779884 |
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) |
| Bloom syndrome (due to BLM) |
rs587779886 |
NM_000057.4(BLM):c.3210+2del |
| Bloom syndrome (due to BLM) |
rs587783037 |
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) |
| Bloom syndrome (due to BLM) |
rs730881428 |
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) |
| Bloom syndrome (due to BLM) |
rs786204471 |
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) |
| Canavan Disease (due to ASPA) |
rs12948217 |
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) |
| Canavan Disease (due to ASPA) |
rs28940279 |
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) |
| Canavan Disease (due to ASPA) |
rs28940574 |
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) |
| Canavan Disease (due to ASPA) |
rs63751297 |
NM_000049.4(ASPA):c.433-2A>G |
| Canavan Disease (due to ASPA) |
rs780936696 |
NM_000049.4(ASPA):c.237-2A>T |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs121913376 |
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) |
| Cardiofaciocutaneous syndrome 1 (due to BRAF) |
rs180177036 |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs189174414 |
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs191107774 |
NM_001876.4(CPT1A):c.281+1G>A |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs2229738 |
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs398123654 |
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356774 |
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356775 |
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356779 |
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356780 |
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356798 |
NM_001876.4(CPT1A):c.1876-1G>A |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs121918528 |
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs186044004 |
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs201065226 |
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936375 |
NM_000098.3(CPT2):c.149C>A (p.Pro50His) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936673 |
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936674 |
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs368311455 |
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs397509431 |
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726174 |
NM_000098.3(CPT2):c.641T>C (p.Met214Thr) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726175 |
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726176 |
NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726177 |
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs727503887 |
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315293 |
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315294 |
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315295 |
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315296 |
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315298 |
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs754363068 |
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) |
| Choroideremia (due to CHM) |
rs132630266 |
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) |
| Choroideremia (due to CHM) |
rs386833676 |
NM_000390.4(CHM):c.1609+2dup |
| Choroideremia (due to PRPH2) |
rs281865373 |
NM_000322.5(PRPH2):c.828+3A>T |
| Citrullinemia type I (due to ASS1) |
rs121908637 |
NM_054012.4(ASS1):c.470G>A (p.Arg157His) |
| Citrullinemia type I (due to ASS1) |
rs121908638 |
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) |
| Citrullinemia type I (due to ASS1) |
rs121908639 |
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) |
| Citrullinemia type I (due to ASS1) |
rs121908640 |
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) |
| Citrullinemia type I (due to ASS1) |
rs121908641 |
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) |
| Citrullinemia type I (due to ASS1) |
rs121908642 |
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) |
| Citrullinemia type I (due to ASS1) |
rs121908643 |
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) |
| Citrullinemia type I (due to ASS1) |
rs121908645 |
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) |
| Citrullinemia type I (due to ASS1) |
rs121908646 |
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) |
| Citrullinemia type I (due to ASS1) |
rs121908647 |
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) |
| Citrullinemia type I (due to ASS1) |
rs121908648 |
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) |
| Citrullinemia type I (due to ASS1) |
rs148918985 |
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) |
| Citrullinemia type I (due to ASS1) |
rs183276875 |
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) |
| Citrullinemia type I (due to ASS1) |
rs192838388 |
NM_054012.4(ASS1):c.787G>A (p.Val263Met) |
| Citrullinemia type I (due to ASS1) |
rs199751308 |
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) |
| Citrullinemia type I (due to ASS1) |
rs370595480 |
NM_054012.4(ASS1):c.805G>A (p.Val269Met) |
| Citrullinemia type I (due to ASS1) |
rs371265106 |
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) |
| Citrullinemia type I (due to ASS1) |
rs398123130 |
NM_054012.4(ASS1):c.496-2A>G |
| Citrullinemia type I (due to ASS1) |
rs398123131 |
NM_054012.4(ASS1):c.794G>A (p.Arg265His) |
| Citrullinemia type I (due to ASS1) |
rs727503814 |
NM_054012.4(ASS1):c.1194-1G>C |
| Citrullinemia type I (due to ASS1) |
rs751930594 |
NM_054012.4(ASS1):c.421-2A>G |
| Citrullinemia type I (due to ASS1) |
rs786204537 |
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) |
| Citrullinemia type II (due to SLC25A13) |
rs121908532 |
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) |
| Citrullinemia type II (due to SLC25A13) |
rs80338720 |
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) |
| Citrullinemia type II (due to SLC25A13) |
rs80338722 |
NM_014251.3(SLC25A13):c.1177+1G>A |
| Citrullinemia type II (due to SLC25A13) |
rs80338729 |
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) |
| Cohen syndrome (due to VPS13B) |
rs138930771 |
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) |
| Cohen syndrome (due to VPS13B) |
rs140353201 |
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) |
| Cohen syndrome (due to VPS13B) |
rs180177327 |
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) |
| Cohen syndrome (due to VPS13B) |
rs180177329 |
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) |
| Cohen syndrome (due to VPS13B) |
rs180177356 |
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) |
| Cohen syndrome (due to VPS13B) |
rs180177360 |
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) |
| Cohen syndrome (due to VPS13B) |
rs180177363 |
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) |
| Cohen syndrome (due to VPS13B) |
rs180177366 |
NM_152564.5(VPS13B):c.6657+1G>A |
| Cohen syndrome (due to VPS13B) |
rs180177374 |
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) |
| Cohen syndrome (due to VPS13B) |
rs28940272 |
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) |
| Cohen syndrome (due to VPS13B) |
rs386834055 |
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) |
| Cohen syndrome (due to VPS13B) |
rs386834057 |
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) |
| Cohen syndrome (due to VPS13B) |
rs386834068 |
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) |
| Cohen syndrome (due to VPS13B) |
rs386834070 |
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) |
| Cohen syndrome (due to VPS13B) |
rs386834071 |
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) |
| Cohen syndrome (due to VPS13B) |
rs386834078 |
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) |
| Cohen syndrome (due to VPS13B) |
rs386834080 |
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) |
| Cohen syndrome (due to VPS13B) |
rs386834103 |
NM_152564.5(VPS13B):c.6658-2A>G |
| Cohen syndrome (due to VPS13B) |
rs386834104 |
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) |
| Cohen syndrome (due to VPS13B) |
rs727504219 |
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) |
| Cohen syndrome (due to VPS13B) |
rs748404277 |
NM_017890.4(VPS13B):c.6370_6371delAT |
| Cohen syndrome (due to VPS13B) |
rs797046098 |
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) |
| Cohen syndrome (due to VPS13B) |
rs886041184 |
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917839 |
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917840 |
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917842 |
NM_006261.5(PROP1):c.218G>A (p.Arg73His) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917843 |
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917845 |
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs193922688 |
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) |
| Congenital Adrenal Hyperplasia (due to CYP11B1) |
rs193922538 |
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) |
| Congenital Adrenal Hyperplasia (due to CYP11B1) |
rs193922539 |
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile) |
| Congenital Adrenal Hyperplasia (due to CYP11B1) |
rs193922540 |
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) |
| Congenital Adrenal Hyperplasia (due to CYP11B1) |
rs193922541 |
NM_000497.4(CYP11B1):c.799+2T>C |
| Congenital Adrenal Hyperplasia (due to CYP11B1) |
rs61752786 |
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894135 |
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894139 |
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs556794126 |
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) |
| Congenital Adrenal Hyperplasia (due to CYP21A2) |
rs6471 |
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) |
| Congenital Adrenal Hyperplasia (due to CYP21A2) |
rs7755898 |
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) |
| Congenital Adrenal Hyperplasia (due to HSD3B2) |
rs80358220 |
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) |
| Congenital Adrenal Hyperplasia (due to HSD3B2) |
rs80358221 |
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) |
| Congenital Adrenal Hyperplasia (due to POR) |
rs28931607 |
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr) |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs151173406 |
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs28939378 |
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs369160589 |
NM_019109.5(ALG1):c.1187+3A>G |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs374928784 |
NM_019109.5(ALG1):c.1187+1G>A |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs398124348 |
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) |
| Congenital Disorder of Glycosylation (due to ALG1) |
rs794727301 |
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) |
| Congenital Disorder of Glycosylation (due to DPAGT1) |
rs28934876 |
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) |
| Congenital Disorder of Glycosylation (due to SRD5A3) |
rs398124401 |
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) |
| Congenital Disorder of Glycosylation type 1A (due to PMM2) |
rs28936415 |
NM_000303.3(PMM2):c.422G>A (p.Arg141His) |
| Cystic fibrosis (due to CFTR) |
rs113857788 |
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) |
| Cystic fibrosis (due to CFTR) |
rs113993958 |
NM_000492.4(CFTR):c.328G>C (p.Asp110His) |
| Cystic fibrosis (due to CFTR) |
rs113993960 |
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) |
| Cystic fibrosis (due to CFTR) |
rs115545701 |
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) |
| Cystic fibrosis (due to CFTR) |
rs11971167 |
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) |
| Cystic fibrosis (due to CFTR) |
rs121908745 |
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) |
| Cystic fibrosis (due to CFTR) |
rs121908746 |
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs) |
| Cystic fibrosis (due to CFTR) |
rs121908746 |
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) |
| Cystic fibrosis (due to CFTR) |
rs121908746 |
NM_000492.4(CFTR):c.2052del (p.Lys684fs) |
| Cystic fibrosis (due to CFTR) |
rs121908746 |
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) |
| Cystic fibrosis (due to CFTR) |
rs121908748 |
NM_000492.4(CFTR):c.1766+1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908748 |
NM_000492.4(CFTR):c.1766+1G>C |
| Cystic fibrosis (due to CFTR) |
rs121908749 |
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908750 |
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) |
| Cystic fibrosis (due to CFTR) |
rs121908751 |
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) |
| Cystic fibrosis (due to CFTR) |
rs121908751 |
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908752 |
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) |
| Cystic fibrosis (due to CFTR) |
rs121908753 |
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) |
| Cystic fibrosis (due to CFTR) |
rs121908754 |
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908755 |
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) |
| Cystic fibrosis (due to CFTR) |
rs121908755 |
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) |
| Cystic fibrosis (due to CFTR) |
rs121908757 |
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) |
| Cystic fibrosis (due to CFTR) |
rs121908758 |
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) |
| Cystic fibrosis (due to CFTR) |
rs121908759 |
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) |
| Cystic fibrosis (due to CFTR) |
rs121908760 |
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908761 |
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908763 |
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908764 |
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908765 |
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908766 |
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908767 |
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) |
| Cystic fibrosis (due to CFTR) |
rs121908768 |
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) |
| Cystic fibrosis (due to CFTR) |
rs121908769 |
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) |
| Cystic fibrosis (due to CFTR) |
rs121908770 |
NM_000492.4(CFTR):c.442del (p.Ile148fs) |
| Cystic fibrosis (due to CFTR) |
rs121908771 |
NM_000492.4(CFTR):c.531del (p.Ile177fs) |
| Cystic fibrosis (due to CFTR) |
rs121908771 |
NM_000492.4(CFTR):c.531dup (p.Gly178fs) |
| Cystic fibrosis (due to CFTR) |
rs121908772 |
NM_000492.4(CFTR):c.803del (p.Asn268fs) |
| Cystic fibrosis (due to CFTR) |
rs121908776 |
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) |
| Cystic fibrosis (due to CFTR) |
rs121908781 |
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) |
| Cystic fibrosis (due to CFTR) |
rs121908781 |
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) |
| Cystic fibrosis (due to CFTR) |
rs121908782 |
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) |
| Cystic fibrosis (due to CFTR) |
rs121908784 |
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) |
| Cystic fibrosis (due to CFTR) |
rs121908788 |
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908789 |
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) |
| Cystic fibrosis (due to CFTR) |
rs121908791 |
NM_000492.4(CFTR):c.273+1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908792 |
NM_000492.4(CFTR):c.274-1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908793 |
NM_000492.4(CFTR):c.580-1G>T |
| Cystic fibrosis (due to CFTR) |
rs121908794 |
NM_000492.4(CFTR):c.1680-1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908797 |
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) |
| Cystic fibrosis (due to CFTR) |
rs121908801 |
NM_000492.4(CFTR):c.313del (p.Ile105fs) |
| Cystic fibrosis (due to CFTR) |
rs121908802 |
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) |
| Cystic fibrosis (due to CFTR) |
rs121908803 |
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) |
| Cystic fibrosis (due to CFTR) |
rs121908804 |
NM_000492.4(CFTR):c.723_743+1del |
| Cystic fibrosis (due to CFTR) |
rs121908805 |
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908808 |
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) |
| Cystic fibrosis (due to CFTR) |
rs121908810 |
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908811 |
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) |
| Cystic fibrosis (due to CFTR) |
rs121909005 |
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) |
| Cystic fibrosis (due to CFTR) |
rs121909011 |
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) |
| Cystic fibrosis (due to CFTR) |
rs121909012 |
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) |
| Cystic fibrosis (due to CFTR) |
rs121909013 |
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) |
| Cystic fibrosis (due to CFTR) |
rs121909015 |
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) |
| Cystic fibrosis (due to CFTR) |
rs121909017 |
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) |
| Cystic fibrosis (due to CFTR) |
rs121909019 |
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) |
| Cystic fibrosis (due to CFTR) |
rs121909020 |
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) |
| Cystic fibrosis (due to CFTR) |
rs121909025 |
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) |
| Cystic fibrosis (due to CFTR) |
rs121909026 |
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) |
| Cystic fibrosis (due to CFTR) |
rs121909036 |
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) |
| Cystic fibrosis (due to CFTR) |
rs121909041 |
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) |
| Cystic fibrosis (due to CFTR) |
rs121909045 |
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) |
| Cystic fibrosis (due to CFTR) |
rs121909046 |
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) |
| Cystic fibrosis (due to CFTR) |
rs121909047 |
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) |
| Cystic fibrosis (due to CFTR) |
rs138338446 |
NM_000492.4(CFTR):c.601G>A (p.Val201Met) |
| Cystic fibrosis (due to CFTR) |
rs139304906 |
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) |
| Cystic fibrosis (due to CFTR) |
rs139468767 |
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) |
| Cystic fibrosis (due to CFTR) |
rs139573311 |
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) |
| Cystic fibrosis (due to CFTR) |
rs140455771 |
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) |
| Cystic fibrosis (due to CFTR) |
rs141158996 |
NM_000492.4(CFTR):c.2490+1G>A |
| Cystic fibrosis (due to CFTR) |
rs142394380 |
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) |
| Cystic fibrosis (due to CFTR) |
rs142773283 |
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) |
| Cystic fibrosis (due to CFTR) |
rs143570767 |
NM_000492.4(CFTR):c.3873+1G>A |
| Cystic fibrosis (due to CFTR) |
rs144055758 |
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) |
| Cystic fibrosis (due to CFTR) |
rs146521846 |
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) |
| Cystic fibrosis (due to CFTR) |
rs147422190 |
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) |
| Cystic fibrosis (due to CFTR) |
rs149790377 |
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) |
| Cystic fibrosis (due to CFTR) |
rs150212784 |
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) |
| Cystic fibrosis (due to CFTR) |
rs151020603 |
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) |
| Cystic fibrosis (due to CFTR) |
rs151048781 |
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) |
| Cystic fibrosis (due to CFTR) |
rs1800074 |
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly) |
| Cystic fibrosis (due to CFTR) |
rs1800089 |
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) |
| Cystic fibrosis (due to CFTR) |
rs1800110 |
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) |
| Cystic fibrosis (due to CFTR) |
rs1800114 |
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) |
| Cystic fibrosis (due to CFTR) |
rs186045772 |
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) |
| Cystic fibrosis (due to CFTR) |
rs191456345 |
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) |
| Cystic fibrosis (due to CFTR) |
rs193922498 |
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) |
| Cystic fibrosis (due to CFTR) |
rs193922500 |
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) |
| Cystic fibrosis (due to CFTR) |
rs193922501 |
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) |
| Cystic fibrosis (due to CFTR) |
rs193922503 |
NM_000492.4(CFTR):c.1585-8G>A |
| Cystic fibrosis (due to CFTR) |
rs193922505 |
NM_000492.4(CFTR):c.1692del (p.Asp565fs) |
| Cystic fibrosis (due to CFTR) |
rs193922510 |
NM_000492.4(CFTR):c.2810dup (p.Val938fs) |
| Cystic fibrosis (due to CFTR) |
rs193922511 |
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) |
| Cystic fibrosis (due to CFTR) |
rs193922515 |
NM_000492.4(CFTR):c.2989-2A>T |
| Cystic fibrosis (due to CFTR) |
rs193922519 |
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) |
| Cystic fibrosis (due to CFTR) |
rs193922520 |
NM_000492.4(CFTR):c.3717+5G>A |
| Cystic fibrosis (due to CFTR) |
rs193922521 |
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) |
| Cystic fibrosis (due to CFTR) |
rs193922524 |
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) |
| Cystic fibrosis (due to CFTR) |
rs193922525 |
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) |
| Cystic fibrosis (due to CFTR) |
rs193922526 |
NM_000492.4(CFTR):c.4242+2T>C |
| Cystic fibrosis (due to CFTR) |
rs193922528 |
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) |
| Cystic fibrosis (due to CFTR) |
rs193922529 |
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) |
| Cystic fibrosis (due to CFTR) |
rs200337193 |
NM_000492.4(CFTR):c.165-3C>T |
| Cystic fibrosis (due to CFTR) |
rs201124247 |
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) |
| Cystic fibrosis (due to CFTR) |
rs202179988 |
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) |
| Cystic fibrosis (due to CFTR) |
rs267606722 |
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) |
| Cystic fibrosis (due to CFTR) |
rs36210737 |
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) |
| Cystic fibrosis (due to CFTR) |
rs368505753 |
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) |
| Cystic fibrosis (due to CFTR) |
rs372227120 |
NM_000492.4(CFTR):c.4242+1G>T |
| Cystic fibrosis (due to CFTR) |
rs373885282 |
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) |
| Cystic fibrosis (due to CFTR) |
rs374705585 |
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) |
| Cystic fibrosis (due to CFTR) |
rs374946172 |
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) |
| Cystic fibrosis (due to CFTR) |
rs386134230 |
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) |
| Cystic fibrosis (due to CFTR) |
rs387906359 |
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) |
| Cystic fibrosis (due to CFTR) |
rs387906360 |
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) |
| Cystic fibrosis (due to CFTR) |
rs387906361 |
NM_000492.4(CFTR):c.1081del (p.Trp361fs) |
| Cystic fibrosis (due to CFTR) |
rs387906362 |
NM_000492.4(CFTR):c.3717+4A>G |
| Cystic fibrosis (due to CFTR) |
rs387906369 |
NM_000492.4(CFTR):c.3718-1G>A |
| Cystic fibrosis (due to CFTR) |
rs387906373 |
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) |
| Cystic fibrosis (due to CFTR) |
rs387906378 |
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) |
| Cystic fibrosis (due to CFTR) |
rs397508136 |
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) |
| Cystic fibrosis (due to CFTR) |
rs397508137 |
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) |
| Cystic fibrosis (due to CFTR) |
rs397508137 |
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) |
| Cystic fibrosis (due to CFTR) |
rs397508139 |
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) |
| Cystic fibrosis (due to CFTR) |
rs397508158 |
NM_000492.4(CFTR):c.1116+1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508163 |
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) |
| Cystic fibrosis (due to CFTR) |
rs397508168 |
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508173 |
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508174 |
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508175 |
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508176 |
NM_000492.4(CFTR):c.1209+1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508183 |
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508189 |
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) |
| Cystic fibrosis (due to CFTR) |
rs397508192 |
NM_000492.4(CFTR):c.1340del (p.Lys447fs) |
| Cystic fibrosis (due to CFTR) |
rs397508196 |
NM_000492.4(CFTR):c.1373del (p.Gly458fs) |
| Cystic fibrosis (due to CFTR) |
rs397508200 |
NM_000492.4(CFTR):c.1393-1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508201 |
NM_000492.4(CFTR):c.1393-2A>G |
| Cystic fibrosis (due to CFTR) |
rs397508205 |
NM_000492.4(CFTR):c.1418del (p.Gly473fs) |
| Cystic fibrosis (due to CFTR) |
rs397508211 |
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508222 |
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) |
| Cystic fibrosis (due to CFTR) |
rs397508222 |
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) |
| Cystic fibrosis (due to CFTR) |
rs397508227 |
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508243 |
NM_000492.4(CFTR):c.164+1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508247 |
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508249 |
NM_000492.4(CFTR):c.165-1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508251 |
NM_000492.4(CFTR):c.1650del (p.Gly551fs) |
| Cystic fibrosis (due to CFTR) |
rs397508256 |
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) |
| Cystic fibrosis (due to CFTR) |
rs397508261 |
NM_000492.4(CFTR):c.1680-877G>T |
| Cystic fibrosis (due to CFTR) |
rs397508263 |
NM_000492.4(CFTR):c.1679+1G>C |
| Cystic fibrosis (due to CFTR) |
rs397508267 |
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) |
| Cystic fibrosis (due to CFTR) |
rs397508273 |
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508279 |
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508294 |
NM_000492.4(CFTR):c.175dup (p.Arg59fs) |
| Cystic fibrosis (due to CFTR) |
rs397508296 |
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508297 |
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) |
| Cystic fibrosis (due to CFTR) |
rs397508298 |
NM_000492.4(CFTR):c.1766+3A>G |
| Cystic fibrosis (due to CFTR) |
rs397508303 |
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) |
| Cystic fibrosis (due to CFTR) |
rs397508306 |
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) |
| Cystic fibrosis (due to CFTR) |
rs397508316 |
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508316 |
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508325 |
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) |
| Cystic fibrosis (due to CFTR) |
rs397508328 |
NM_000492.4(CFTR):c.1A>G (p.Met1Val) |
| Cystic fibrosis (due to CFTR) |
rs397508331 |
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508333 |
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508336 |
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508350 |
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508353 |
NM_000492.4(CFTR):c.2215del (p.Val739fs) |
| Cystic fibrosis (due to CFTR) |
rs397508375 |
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) |
| Cystic fibrosis (due to CFTR) |
rs397508378 |
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508387 |
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508393 |
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508394 |
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508395 |
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) |
| Cystic fibrosis (due to CFTR) |
rs397508399 |
NM_000492.4(CFTR):c.2583del (p.Phe861fs) |
| Cystic fibrosis (due to CFTR) |
rs397508400 |
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) |
| Cystic fibrosis (due to CFTR) |
rs397508405 |
NM_000492.4(CFTR):c.2601dup (p.Val868fs) |
| Cystic fibrosis (due to CFTR) |
rs397508412 |
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508414 |
NM_000492.4(CFTR):c.2657+2_2657+3insA |
| Cystic fibrosis (due to CFTR) |
rs397508416 |
NM_000492.4(CFTR):c.2658-1G>T |
| Cystic fibrosis (due to CFTR) |
rs397508431 |
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) |
| Cystic fibrosis (due to CFTR) |
rs397508435 |
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) |
| Cystic fibrosis (due to CFTR) |
rs397508441 |
NM_000492.4(CFTR):c.2825del (p.Ile942fs) |
| Cystic fibrosis (due to CFTR) |
rs397508442 |
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) |
| Cystic fibrosis (due to CFTR) |
rs397508444 |
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) |
| Cystic fibrosis (due to CFTR) |
rs397508447 |
NM_000492.4(CFTR):c.2875del (p.Ala959fs) |
| Cystic fibrosis (due to CFTR) |
rs397508451 |
NM_000492.4(CFTR):c.2896del (p.Thr966fs) |
| Cystic fibrosis (due to CFTR) |
rs397508453 |
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508461 |
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508462 |
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) |
| Cystic fibrosis (due to CFTR) |
rs397508462 |
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) |
| Cystic fibrosis (due to CFTR) |
rs397508464 |
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508467 |
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) |
| Cystic fibrosis (due to CFTR) |
rs397508470 |
NM_000492.4(CFTR):c.2989-1G>A |
| Cystic fibrosis (due to CFTR) |
rs397508476 |
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) |
| Cystic fibrosis (due to CFTR) |
rs397508477 |
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) |
| Cystic fibrosis (due to CFTR) |
rs397508482 |
NM_000492.4(CFTR):c.3022del (p.Val1008fs) |
| Cystic fibrosis (due to CFTR) |
rs397508490 |
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) |
| Cystic fibrosis (due to CFTR) |
rs397508490 |
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508496 |
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508499 |
NM_000492.4(CFTR):c.310del (p.Arg104fs) |
| Cystic fibrosis (due to CFTR) |
rs397508505 |
NM_000492.4(CFTR):c.3139_3139+1del |
| Cystic fibrosis (due to CFTR) |
rs397508510 |
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) |
| Cystic fibrosis (due to CFTR) |
rs397508532 |
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508533 |
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) |
| Cystic fibrosis (due to CFTR) |
rs397508538 |
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508571 |
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) |
| Cystic fibrosis (due to CFTR) |
rs397508587 |
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) |
| Cystic fibrosis (due to CFTR) |
rs397508596 |
NM_000492.4(CFTR):c.3718-3T>G |
| Cystic fibrosis (due to CFTR) |
rs397508600 |
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) |
| Cystic fibrosis (due to CFTR) |
rs397508602 |
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508604 |
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508606 |
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) |
| Cystic fibrosis (due to CFTR) |
rs397508637 |
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) |
| Cystic fibrosis (due to CFTR) |
rs397508637 |
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) |
| Cystic fibrosis (due to CFTR) |
rs397508645 |
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508669 |
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508672 |
NM_000492.4(CFTR):c.409del (p.Leu137fs) |
| Cystic fibrosis (due to CFTR) |
rs397508675 |
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508684 |
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508685 |
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) |
| Cystic fibrosis (due to CFTR) |
rs397508693 |
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) |
| Cystic fibrosis (due to CFTR) |
rs397508701 |
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508702 |
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508706 |
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) |
| Cystic fibrosis (due to CFTR) |
rs397508709 |
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) |
| Cystic fibrosis (due to CFTR) |
rs397508720 |
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508725 |
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) |
| Cystic fibrosis (due to CFTR) |
rs397508746 |
NM_000492.4(CFTR):c.53+1G>T |
| Cystic fibrosis (due to CFTR) |
rs397508750 |
NM_000492.4(CFTR):c.543_546del (p.Leu183fs) |
| Cystic fibrosis (due to CFTR) |
rs397508759 |
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508761 |
NM_000492.4(CFTR):c.579+3A>G |
| Cystic fibrosis (due to CFTR) |
rs397508764 |
NM_000492.4(CFTR):c.596A>G (p.His199Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508778 |
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508782 |
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) |
| Cystic fibrosis (due to CFTR) |
rs397508783 |
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) |
| Cystic fibrosis (due to CFTR) |
rs397508791 |
NM_000492.4(CFTR):c.743+1G>C |
| Cystic fibrosis (due to CFTR) |
rs397508796 |
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508799 |
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) |
| Cystic fibrosis (due to CFTR) |
rs397508824 |
NM_000492.4(CFTR):c.987del (p.Gly330fs) |
| Cystic fibrosis (due to CFTR) |
rs397515498 |
NM_000492.4(CFTR):c.2453del (p.Leu818fs) |
| Cystic fibrosis (due to CFTR) |
rs73215912 |
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) |
| Cystic fibrosis (due to CFTR) |
rs73715573 |
NM_000492.4(CFTR):c.1210-11T>G |
| Cystic fibrosis (due to CFTR) |
rs74467662 |
NM_000492.4(CFTR):c.273+3A>C |
| Cystic fibrosis (due to CFTR) |
rs74503330 |
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) |
| Cystic fibrosis (due to CFTR) |
rs74551128 |
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) |
| Cystic fibrosis (due to CFTR) |
rs74597325 |
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) |
| Cystic fibrosis (due to CFTR) |
rs74767530 |
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) |
| Cystic fibrosis (due to CFTR) |
rs75039782 |
NM_000492.3(CFTR):c.3718-2477C>T |
| Cystic fibrosis (due to CFTR) |
rs75096551 |
NM_000492.4(CFTR):c.2988+1G>A |
| Cystic fibrosis (due to CFTR) |
rs75115087 |
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) |
| Cystic fibrosis (due to CFTR) |
rs75389940 |
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) |
| Cystic fibrosis (due to CFTR) |
rs75527207 |
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) |
| Cystic fibrosis (due to CFTR) |
rs755416052 |
NM_000492.4(CFTR):c.3368-2A>G |
| Cystic fibrosis (due to CFTR) |
rs755416052 |
NM_000492.4(CFTR):c.3368-2A>T |
| Cystic fibrosis (due to CFTR) |
rs75541969 |
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) |
| Cystic fibrosis (due to CFTR) |
rs75549581 |
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) |
| Cystic fibrosis (due to CFTR) |
rs75961395 |
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) |
| Cystic fibrosis (due to CFTR) |
rs76151804 |
NM_000492.4(CFTR):c.3140-26A>G |
| Cystic fibrosis (due to CFTR) |
rs76554633 |
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) |
| Cystic fibrosis (due to CFTR) |
rs76649725 |
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) |
| Cystic fibrosis (due to CFTR) |
rs76713772 |
NM_000492.4(CFTR):c.1585-1G>A |
| Cystic fibrosis (due to CFTR) |
rs77010898 |
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) |
| Cystic fibrosis (due to CFTR) |
rs77101217 |
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) |
| Cystic fibrosis (due to CFTR) |
rs77188391 |
NM_000492.4(CFTR):c.579+1G>T |
| Cystic fibrosis (due to CFTR) |
rs77284892 |
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) |
| Cystic fibrosis (due to CFTR) |
rs77409459 |
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) |
| Cystic fibrosis (due to CFTR) |
rs77646904 |
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) |
| Cystic fibrosis (due to CFTR) |
rs77834169 |
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) |
| Cystic fibrosis (due to CFTR) |
rs77902683 |
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) |
| Cystic fibrosis (due to CFTR) |
rs78194216 |
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) |
| Cystic fibrosis (due to CFTR) |
rs78440224 |
NM_000492.4(CFTR):c.579+5G>A |
| Cystic fibrosis (due to CFTR) |
rs786204693 |
NM_000492.4(CFTR):c.850dup (p.Met284fs) |
| Cystic fibrosis (due to CFTR) |
rs78655421 |
NM_000492.4(CFTR):c.350G>A (p.Arg117His) |
| Cystic fibrosis (due to CFTR) |
rs78756941 |
NM_000492.4(CFTR):c.489+1G>T |
| Cystic fibrosis (due to CFTR) |
rs78769542 |
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) |
| Cystic fibrosis (due to CFTR) |
rs78802634 |
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) |
| Cystic fibrosis (due to CFTR) |
rs79031340 |
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) |
| Cystic fibrosis (due to CFTR) |
rs79282516 |
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) |
| Cystic fibrosis (due to CFTR) |
rs79633941 |
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) |
| Cystic fibrosis (due to CFTR) |
rs79660178 |
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) |
| Cystic fibrosis (due to CFTR) |
rs797045159 |
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) |
| Cystic fibrosis (due to CFTR) |
rs797045160 |
NM_000492.4(CFTR):c.1117-1G>A |
| Cystic fibrosis (due to CFTR) |
rs797045161 |
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) |
| Cystic fibrosis (due to CFTR) |
rs79850223 |
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) |
| Cystic fibrosis (due to CFTR) |
rs80034486 |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) |
| Cystic fibrosis (due to CFTR) |
rs80055610 |
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) |
| Cystic fibrosis (due to CFTR) |
rs80055610 |
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) |
| Cystic fibrosis (due to CFTR) |
rs80224560 |
NM_000492.4(CFTR):c.2657+5G>A |
| Cystic fibrosis (due to CFTR) |
rs80282562 |
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs137853097 |
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs863225438 |
NM_000414.4(HSD17B4):c.302+3_302+6del |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894395 |
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894396 |
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894397 |
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894398 |
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894401 |
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894402 |
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894404 |
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894407 |
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894408 |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894409 |
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894413 |
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033190 |
NM_004004.6(GJB2):c.95G>A (p.Arg32His) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033204 |
NM_004004.6(GJB2):c.299_300del (p.His100fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033217 |
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033253 |
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033293 |
NM_004004.6(GJB2):c.1A>G (p.Met1Val) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033294 |
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033295 |
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033296 |
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033297 |
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033299 |
NM_004004.6(GJB2):c.283G>A (p.Val95Met) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033361 |
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033401 |
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033420 |
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033451 |
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs143343083 |
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs1801002 |
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs28931593 |
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs28931594 |
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs28931595 |
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs35887622 |
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs371024165 |
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs397516874 |
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs397516877 |
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs587783644 |
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs587783645 |
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs587783646 |
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs587783647 |
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs72474224 |
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs72474224 |
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs72561723 |
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs727504302 |
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs76434661 |
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs772264564 |
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs773528125 |
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs779018464 |
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs786204597 |
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs786204690 |
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs786204734 |
NM_004004.6(GJB2):c.-23G>T |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs797045596 |
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338939 |
NM_004004.6(GJB2):c.35del (p.Gly12fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338939 |
NM_004004.6(GJB2):c.35dup (p.Val13fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338940 |
NM_004004.6(GJB2):c.-23+1G>A |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338942 |
NM_004004.6(GJB2):c.167del (p.Leu56fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338943 |
NM_004004.6(GJB2):c.235del (p.Leu79fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338944 |
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338945 |
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338946 |
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338947 |
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338948 |
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338949 |
NM_004004.6(GJB2):c.487A>G (p.Met163Val) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338950 |
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs80338950 |
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893915 |
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893924 |
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs121908078 |
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs386833492 |
NM_000112.4(SLC26A2):c.-26+2T>C |
| Diastrophic Dysplasia (due to SLC26A2) |
rs386833493 |
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs386833497 |
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs786200881 |
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) |
| Dihydrolipoamide Dehydrogenase deficiency (due to DLD) |
rs121964990 |
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) |
| Dihydrolipoamide Dehydrogenase deficiency (due to DLD) |
rs121964992 |
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs1801265 |
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs1801267 |
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs189768576 |
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs367619008 |
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs3918290 |
NM_000110.4(DPYD):c.1905+1G>A |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs55886062 |
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs568132506 |
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs59086055 |
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs67376798 |
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs72549303 |
NM_000110.4(DPYD):c.1898del (p.Pro633fs) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs72549304 |
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs72549309 |
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs72549310 |
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs777425216 |
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs78060119 |
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs104894787 |
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs104894789 |
NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs104894790 |
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs104894797 |
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs1064325 |
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128625228 |
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128625229 |
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626231 |
NM_004006.3(DMD):c.161T>G (p.Leu54Arg) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626232 |
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626235 |
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626242 |
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626246 |
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626249 |
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626250 |
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128626251 |
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs128627256 |
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs146071084 |
NM_004006.3(DMD):c.3603+2T>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs201366610 |
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs370644567 |
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) |
| Duchenne Muscular Distrophy (due to DMD) |
rs373286166 |
NM_004006.3(DMD):c.1812+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398122853 |
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123827 |
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123832 |
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123833 |
NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123834 |
NM_004006.3(DMD):c.10223+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123834 |
NM_004006.3(DMD):c.10223+1G>C |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123835 |
NM_004006.3(DMD):c.10258dup (p.Ser3420fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123839 |
NM_004006.3(DMD):c.10454del (p.Leu3485fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123852 |
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123856 |
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123862 |
NM_004006.3(DMD):c.1482+1G>T |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123863 |
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123865 |
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123866 |
NM_004006.3(DMD):c.1734dup (p.Glu579fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123870 |
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123873 |
NM_004006.3(DMD):c.2032_2033del (p.Gln678fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123881 |
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123882 |
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123883 |
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123888 |
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123889 |
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123893 |
NM_004006.3(DMD):c.251del (p.Leu84fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123901 |
NM_004006.3(DMD):c.2622+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123903 |
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123905 |
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123909 |
NM_004006.3(DMD):c.2804-1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123912 |
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123919 |
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123920 |
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123923 |
NM_004006.3(DMD):c.31+1G>T |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123929 |
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123934 |
NM_004006.3(DMD):c.3276+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123935 |
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123937 |
NM_004006.3(DMD):c.3432+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123942 |
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123943 |
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123948 |
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123950 |
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123950 |
NM_004006.3(DMD):c.4315del (p.Arg1439fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123952 |
NM_004006.3(DMD):c.434G>C (p.Arg145Pro) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123953 |
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123957 |
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123962 |
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123973 |
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123979 |
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123980 |
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123981 |
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123997 |
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123999 |
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124003 |
NM_004006.3(DMD):c.6014_6017del (p.Thr2005fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124008 |
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124012 |
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124012 |
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124033 |
NM_004006.3(DMD):c.6763-2A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124039 |
NM_004006.3(DMD):c.6964del (p.Asp2322fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124040 |
NM_004006.3(DMD):c.6986del (p.Lys2329fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124040 |
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124044 |
NM_004006.3(DMD):c.7309+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124050 |
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124051 |
NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124055 |
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124060 |
NM_004006.3(DMD):c.8064_8065del (p.His2688fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124062 |
NM_004006.3(DMD):c.8086del (p.Leu2696fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124072 |
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124074 |
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124075 |
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124078 |
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124078 |
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124091 |
NM_004006.3(DMD):c.9225-647A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124092 |
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124094 |
NM_004006.3(DMD):c.9361+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124094 |
NM_004006.3(DMD):c.9361+1G>C |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124099 |
NM_004006.3(DMD):c.961-5831C>T |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124105 |
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs5030730 |
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs72470513 |
NM_004006.3(DMD):c.832-15A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs727503802 |
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs727503850 |
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs727503864 |
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs762250680 |
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs794726993 |
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs794727123 |
NM_004006.3(DMD):c.1704+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs794727463 |
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs794727661 |
NM_004006.3(DMD):c.5697del (p.Lys1899fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs794727661 |
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs796065333 |
NM_004006.3(DMD):c.547dup (p.Trp183fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs797044764 |
NM_004006.3(DMD):c.7247dup (p.Leu2416fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs797045526 |
NM_004006.3(DMD):c.6614+3310G>T |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224975 |
NM_004006.3(DMD):c.10133del (p.Asn3378fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224976 |
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224977 |
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224978 |
NM_004006.3(DMD):c.1150-2del |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224979 |
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224980 |
NM_004006.3(DMD):c.1331+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224981 |
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224983 |
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224984 |
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224985 |
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224986 |
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224987 |
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224988 |
NM_004006.3(DMD):c.2623-3C>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224989 |
NM_004006.3(DMD):c.265-2A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224991 |
NM_004006.3(DMD):c.282dup (p.Gly95fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224992 |
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224993 |
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224994 |
NM_004006.3(DMD):c.3433-5_3434del |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224995 |
NM_004006.3(DMD):c.355C>T (p.Gln119Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224996 |
NM_004006.3(DMD):c.358-2A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224997 |
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224998 |
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224999 |
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225000 |
NM_004006.3(DMD):c.4918del (p.Thr1640fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225001 |
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225002 |
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225003 |
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225004 |
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225005 |
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225007 |
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225007 |
NM_004006.3(DMD):c.6611del (p.Lys2204fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225007 |
NM_004006.3(DMD):c.6611dup (p.Arg2205fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225008 |
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225009 |
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225010 |
NM_004006.3(DMD):c.8027+2T>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225011 |
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225012 |
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225013 |
NM_004006.3(DMD):c.8390+2T>C |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225014 |
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225015 |
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225017 |
NM_004006.3(DMD):c.9551dup (p.Asn3184fs) |
| Factor XI Deficiency (due to F11) |
rs121965063 |
NM_000128.4(F11):c.403G>T (p.Glu135Ter) |
| Factor XI Deficiency (due to F11) |
rs121965064 |
NM_000128.4(F11):c.901T>C (p.Phe301Leu) |
| Factor XI Deficiency (due to F11) |
rs121965065 |
NM_000128.4(F11):c.1378T>G (p.Phe460Val) |
| Factor XI Deficiency (due to F11) |
rs121965069 |
NM_000128.4(F11):c.166T>C (p.Cys56Arg) |
| Factor XI Deficiency (due to F11) |
rs121965070 |
NM_000128.4(F11):c.809A>T (p.Lys270Ile) |
| Factor XI Deficiency (due to F11) |
rs121965071 |
NM_000128.4(F11):c.1253G>T (p.Gly418Val) |
| Factor XI Deficiency (due to F11) |
rs201007090 |
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) |
| Factor XI Deficiency (due to F11) |
rs281875250 |
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) |
| Factor XI Deficiency (due to F11) |
rs28934608 |
NM_000128.4(F11):c.976C>T (p.Arg326Cys) |
| Factor XI Deficiency (due to F11) |
rs373297713 |
NM_000128.4(F11):c.1716+1G>A |
| Factor XI Deficiency (due to F11) |
rs756908183 |
NM_000128.4(F11):c.400C>T (p.Gln134Ter) |
| Familial Mediterranean fever (due to MEFV) |
rs104895076 |
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) |
| Familial Mediterranean fever (due to MEFV) |
rs104895085 |
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) |
| Familial Mediterranean fever (due to MEFV) |
rs104895093 |
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) |
| Familial Mediterranean fever (due to MEFV) |
rs104895094 |
NM_000243.2(MEFV):c.2084A>G |
| Familial Mediterranean fever (due to MEFV) |
rs104895097 |
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) |
| Familial Mediterranean fever (due to MEFV) |
rs11466023 |
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) |
| Familial Mediterranean fever (due to MEFV) |
rs11466024 |
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) |
| Familial Mediterranean fever (due to MEFV) |
rs11466045 |
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) |
| Familial Mediterranean fever (due to MEFV) |
rs28940578 |
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs28940579 |
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) |
| Familial Mediterranean fever (due to MEFV) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs61732874 |
NM_000243.2(MEFV):c.2230G>T |
| Familial Mediterranean fever (due to MEFV) |
rs61752717 |
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) |
| Familial dysautonomia (due to ELP1) |
rs111033171 |
NM_003640.5(ELP1):c.2204+6T>C |
| Familial dysautonomia (due to ELP1) |
rs137853022 |
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) |
| Familial dysautonomia (due to ELP1) |
rs28939712 |
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) |
| Familial hyperinsulinism (due to ABCC8) |
rs137852676 |
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) |
| Familial hyperinsulinism (due to ABCC8) |
rs151344623 |
NM_000352.6(ABCC8):c.3989-9G>A |
| Familial hyperinsulinism (due to ABCC8) |
rs151344624 |
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) |
| Familial hyperinsulinism (due to ABCC8) |
rs761749884 |
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) |
| Fanconi Anemia (due to FANCA) |
rs148100796 |
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) |
| Fanconi Anemia (due to FANCA) |
rs149277003 |
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) |
| Fanconi Anemia (due to FANCA) |
rs397507552 |
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) |
| Fanconi Anemia (due to FANCA) |
rs397507553 |
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) |
| Fanconi Anemia (due to FANCA) |
rs747851434 |
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) |
| Fanconi Anemia (due to FANCA) |
rs756367276 |
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) |
| Fanconi Anemia (due to FANCA) |
rs762902309 |
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) |
| Fanconi Anemia (due to FANCA) |
rs772359099 |
NM_000135.4(FANCA):c.987_990del (p.His330fs) |
| Fanconi Anemia (due to FANCA) |
rs780825099 |
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) |
| Fanconi Anemia (due to FANCA) |
rs786204204 |
NM_000135.4(FANCA):c.283+3A>C |
| Fanconi Anemia (due to FANCA) |
rs786204238 |
NM_000135.4(FANCA):c.97del (p.Glu33fs) |
| Fanconi Anemia (due to FANCC) |
rs104886456 |
NM_000136.3(FANCC):c.456+4A>T |
| Fanconi Anemia (due to FANCC) |
rs104886457 |
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) |
| Fanconi Anemia (due to FANCC) |
rs104886458 |
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) |
| Fanconi Anemia (due to FANCC) |
rs104886459 |
NM_000136.3(FANCC):c.67del (p.Asp23fs) |
| Fanconi Anemia (due to FANCC) |
rs1057516291 |
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) |
| Fanconi Anemia (due to FANCC) |
rs121917783 |
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) |
| Fanconi Anemia (due to FANCC) |
rs121917784 |
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) |
| Fanconi Anemia (due to FANCC) |
rs370510954 |
NM_000136.3(FANCC):c.996+1G>T |
| Fanconi Anemia (due to FANCC) |
rs587779909 |
NM_000136.3(FANCC):c.843+1G>A |
| Fanconi Anemia (due to FANCC) |
rs730881708 |
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) |
| Fanconi Anemia (due to FANCC) |
rs730881708 |
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) |
| Fanconi Anemia (due to FANCC) |
rs730881709 |
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) |
| Fanconi Anemia (due to FANCC) |
rs730881710 |
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) |
| Fanconi Anemia (due to FANCC) |
rs730881731 |
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) |
| Fanconi Anemia (due to FANCC) |
rs769039987 |
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) |
| Fanconi Anemia (due to FANCC) |
rs774209201 |
NM_000136.3(FANCC):c.844-1G>C |
| Fanconi Anemia (due to FANCC) |
rs794726668 |
NM_000136.3(FANCC):c.165+1G>T |
| Fanconi Anemia (due to FANCC) |
rs863224441 |
NM_000136.3(FANCC):c.896+2T>G |
| Fanconi Anemia (due to FANCC) |
rs878853671 |
NM_000136.3(FANCC):c.29dup (p.Cys10fs) |
| Fanconi Anemia (due to FANCD2) |
rs201811817 |
NM_001018115.3(FANCD2):c.2715+1G>A |
| Fanconi Anemia (due to FANCF) |
rs730880277 |
NM_022725.4(FANCF):c.230_252del (p.Val77fs) |
| Fanconi Anemia (due to FANCG) |
rs121434426 |
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) |
| Fanconi Anemia (due to FANCG) |
rs149616199 |
NM_004629.2(FANCG):c.1480+1G>C |
| Fanconi Anemia (due to FANCG) |
rs200479612 |
NM_004629.2(FANCG):c.307+1G>C |
| Fanconi Anemia (due to FANCG) |
rs397507559 |
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) |
| Fanconi Anemia (due to FANCG) |
rs397507560 |
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) |
| Fanconi Anemia (due to FANCG) |
rs786204205 |
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) |
| Fanconi Anemia (due to FANCG) |
rs863224506 |
NM_004629.2(FANCG):c.156dup (p.Leu53fs) |
| Fanconi Anemia (due to FANCI) |
rs375656231 |
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) |
| Fanconi Anemia (due to FANCI) |
rs770318990 |
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) |
| Fanconi Anemia (due to FANCM) |
rs144567652 |
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) |
| Fanconi Anemia (due to FANCM) |
rs797045116 |
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) |
| G6PD deficiency (due to G6PD) |
rs1050828 |
NM_000402.4(G6PD):c.292G>A (p.Val98Met) |
| G6PD deficiency (due to G6PD) |
rs1050829 |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) |
| G6PD deficiency (due to G6PD) |
rs1050829 |
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) |
| G6PD deficiency (due to G6PD) |
rs137852313 |
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) |
| G6PD deficiency (due to G6PD) |
rs137852314 |
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) |
| G6PD deficiency (due to G6PD) |
rs137852315 |
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) |
| G6PD deficiency (due to G6PD) |
rs137852316 |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) |
| G6PD deficiency (due to G6PD) |
rs137852317 |
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) |
| G6PD deficiency (due to G6PD) |
rs137852318 |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) |
| G6PD deficiency (due to G6PD) |
rs137852318 |
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr) |
| G6PD deficiency (due to G6PD) |
rs137852319 |
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) |
| G6PD deficiency (due to G6PD) |
rs137852319 |
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) |
| G6PD deficiency (due to G6PD) |
rs137852320 |
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) |
| G6PD deficiency (due to G6PD) |
rs137852321 |
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) |
| G6PD deficiency (due to G6PD) |
rs137852322 |
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) |
| G6PD deficiency (due to G6PD) |
rs137852322 |
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly) |
| G6PD deficiency (due to G6PD) |
rs137852323 |
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) |
| G6PD deficiency (due to G6PD) |
rs137852324 |
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) |
| G6PD deficiency (due to G6PD) |
rs137852324 |
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) |
| G6PD deficiency (due to G6PD) |
rs137852324 |
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu) |
| G6PD deficiency (due to G6PD) |
rs137852325 |
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) |
| G6PD deficiency (due to G6PD) |
rs137852326 |
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) |
| G6PD deficiency (due to G6PD) |
rs137852327 |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) |
| G6PD deficiency (due to G6PD) |
rs137852328 |
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) |
| G6PD deficiency (due to G6PD) |
rs137852328 |
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) |
| G6PD deficiency (due to G6PD) |
rs137852329 |
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) |
| G6PD deficiency (due to G6PD) |
rs137852329 |
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) |
| G6PD deficiency (due to G6PD) |
rs137852330 |
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) |
| G6PD deficiency (due to G6PD) |
rs137852330 |
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser) |
| G6PD deficiency (due to G6PD) |
rs137852331 |
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) |
| G6PD deficiency (due to G6PD) |
rs137852332 |
NM_000402.4(G6PD):c.683G>A (p.Arg228His) |
| G6PD deficiency (due to G6PD) |
rs137852332 |
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) |
| G6PD deficiency (due to G6PD) |
rs137852333 |
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) |
| G6PD deficiency (due to G6PD) |
rs137852334 |
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) |
| G6PD deficiency (due to G6PD) |
rs137852335 |
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) |
| G6PD deficiency (due to G6PD) |
rs137852336 |
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) |
| G6PD deficiency (due to G6PD) |
rs137852336 |
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala) |
| G6PD deficiency (due to G6PD) |
rs137852337 |
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) |
| G6PD deficiency (due to G6PD) |
rs137852337 |
NM_001360016.2(G6PD):c.1316G>A (p.Arg439His) |
| G6PD deficiency (due to G6PD) |
rs137852339 |
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) |
| G6PD deficiency (due to G6PD) |
rs137852340 |
NM_000402.4(G6PD):c.185A>G (p.His62Arg) |
| G6PD deficiency (due to G6PD) |
rs137852342 |
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) |
| G6PD deficiency (due to G6PD) |
rs137852343 |
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) |
| G6PD deficiency (due to G6PD) |
rs137852344 |
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) |
| G6PD deficiency (due to G6PD) |
rs137852345 |
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) |
| G6PD deficiency (due to G6PD) |
rs137852346 |
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) |
| G6PD deficiency (due to G6PD) |
rs137852347 |
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) |
| G6PD deficiency (due to G6PD) |
rs137852348 |
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) |
| G6PD deficiency (due to G6PD) |
rs137852349 |
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) |
| G6PD deficiency (due to G6PD) |
rs181277621 |
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) |
| G6PD deficiency (due to G6PD) |
rs192737996 |
NM_001360016.2(G6PD):c.849C>T (p.Asp283=) |
| G6PD deficiency (due to G6PD) |
rs200111236 |
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu) |
| G6PD deficiency (due to G6PD) |
rs200111236 |
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) |
| G6PD deficiency (due to G6PD) |
rs267606835 |
NM_001360016.2(G6PD):c.317C>G (p.Ser106Cys) |
| G6PD deficiency (due to G6PD) |
rs267606835 |
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe) |
| G6PD deficiency (due to G6PD) |
rs267606836 |
NM_001360016.2(G6PD):c.544C>T (p.Arg182Trp) |
| G6PD deficiency (due to G6PD) |
rs34233392 |
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) |
| G6PD deficiency (due to G6PD) |
rs34233392 |
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) |
| G6PD deficiency (due to G6PD) |
rs370918918 |
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) |
| G6PD deficiency (due to G6PD) |
rs371489738 |
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser) |
| G6PD deficiency (due to G6PD) |
rs398123544 |
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) |
| G6PD deficiency (due to G6PD) |
rs398123546 |
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) |
| G6PD deficiency (due to G6PD) |
rs5030868 |
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) |
| G6PD deficiency (due to G6PD) |
rs5030869 |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) |
| G6PD deficiency (due to G6PD) |
rs5030869 |
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del) |
| G6PD deficiency (due to G6PD) |
rs5030870 |
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) |
| G6PD deficiency (due to G6PD) |
rs5030870 |
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr) |
| G6PD deficiency (due to G6PD) |
rs5030872 |
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) |
| G6PD deficiency (due to G6PD) |
rs72554664 |
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) |
| G6PD deficiency (due to G6PD) |
rs72554664 |
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu) |
| G6PD deficiency (due to G6PD) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) |
| G6PD deficiency (due to G6PD) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) |
| G6PD deficiency (due to G6PD) |
rs72554665 |
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) |
| G6PD deficiency (due to G6PD) |
rs76645461 |
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) |
| G6PD deficiency (due to G6PD) |
rs76723693 |
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) |
| G6PD deficiency (due to G6PD) |
rs781865768 |
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val) |
| G6PD deficiency (due to G6PD) |
rs782090947 |
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) |
| G6PD deficiency (due to G6PD) |
rs782098548 |
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met) |
| G6PD deficiency (due to G6PD) |
rs782308266 |
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) |
| G6PD deficiency (due to G6PD) |
rs782322505 |
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) |
| G6PD deficiency (due to G6PD) |
rs782487723 |
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr) |
| G6PD deficiency (due to G6PD) |
rs782498284 |
NM_000402.4(G6PD):c.683G>A (p.Arg228His) |
| G6PD deficiency (due to G6PD) |
rs782498284 |
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) |
| G6PD deficiency (due to G6PD) |
rs782608284 |
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr) |
| G6PD deficiency (due to G6PD) |
rs782754619 |
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) |
| G6PD deficiency (due to G6PD) |
rs782757170 |
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) |
| G6PD deficiency (due to G6PD) |
rs78365220 |
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) |
| G6PD deficiency (due to G6PD) |
rs78365220 |
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) |
| G6PD deficiency (due to G6PD) |
rs78478128 |
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) |
| G6PD deficiency (due to G6PD) |
rs797043472 |
NM_001360016.2(G6PD):c.34G>A (p.Val12Met) |
| G6PD deficiency (due to G6PD) |
rs797043472 |
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu) |
| GRACILE syndrome (due to BCS1L) |
rs121908576 |
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) |
| GRACILE syndrome (due to BCS1L) |
rs121908577 |
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) |
| GRACILE syndrome (due to BCS1L) |
rs121908578 |
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) |
| GRACILE syndrome (due to BCS1L) |
rs201454788 |
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) |
| GRACILE syndrome (due to BCS1L) |
rs28937590 |
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) |
| GRACILE syndrome (due to BCS1L) |
rs377025174 |
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs1057516453 |
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs11623 |
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs121908010 |
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs145580093 |
NM_000153.4(GALC):c.349A>G (p.Met117Val) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs147313927 |
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs183105855 |
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs199847983 |
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs200378205 |
NM_000153.4(GALC):c.1592G>A (p.Arg531His) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs200960659 |
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs73312829 |
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs752537626 |
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs756352952 |
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs756690487 |
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs771111145 |
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs771489305 |
NM_000153.4(GALC):c.1472del (p.Lys491fs) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs786204454 |
NM_000153.4(GALC):c.955del (p.Tyr319fs) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs794727116 |
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) |
| Gaucher Disease (due to GBA) |
rs121908311 |
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) |
| Gaucher Disease (due to GBA) |
rs76539814 |
NM_000157.4(GBA):c.1085C>T (p.Thr362Ile) |
| Gaucher Disease (due to GBA) |
rs76763715 |
NM_000157.4(GBA):c.1226A>C (p.Asn409Thr) |
| Gaucher Disease (due to GBA) |
rs794727908 |
NM_000157.4(GBA):c.896T>C (p.Ile299Thr) |
| Gaucher Disease (due to GBA) |
rs79653797 |
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) |
| Gaucher Disease (due to GBA) |
rs80356768 |
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) |
| Gaucher Disease (due to GBA1) |
rs104886460 |
NM_000157.4(GBA1):c.115+1G>A |
| Gaucher Disease (due to GBA1) |
rs1064651 |
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) |
| Gaucher Disease (due to GBA1) |
rs121908305 |
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) |
| Gaucher Disease (due to GBA1) |
rs121908309 |
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) |
| Gaucher Disease (due to GBA1) |
rs147138516 |
NM_000157.4(GBA1):c.535G>C (p.Asp179His) |
| Gaucher Disease (due to GBA1) |
rs364897 |
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) |
| Gaucher Disease (due to GBA1) |
rs381737 |
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) |
| Gaucher Disease (due to GBA1) |
rs387906315 |
NM_000157.4(GBA1):c.84dup (p.Leu29fs) |
| Gaucher Disease (due to GBA1) |
rs398123527 |
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) |
| Gaucher Disease (due to GBA1) |
rs398123528 |
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) |
| Gaucher Disease (due to GBA1) |
rs409652 |
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) |
| Gaucher Disease (due to GBA1) |
rs421016 |
NM_000157.3(GBA1):c.1448T>C |
| Gaucher Disease (due to GBA1) |
rs439898 |
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) |
| Gaucher Disease (due to GBA1) |
rs61748906 |
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) |
| Gaucher Disease (due to GBA1) |
rs75822236 |
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) |
| Gaucher Disease (due to GBA1) |
rs76763715 |
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) |
| Gaucher Disease (due to GBA1) |
rs77369218 |
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) |
| Gaucher Disease (due to GBA1) |
rs78973108 |
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) |
| Gaucher Disease (due to GBA1) |
rs80356769 |
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) |
| Gaucher Disease (due to GBA1) |
rs80356771 |
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) |
| Gaucher Disease (due to GBA1) |
rs80356772 |
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) |
| Glutaric acidemia (due to ETFA) |
rs119458969 |
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) |
| Glutaric acidemia (due to ETFA) |
rs119458971 |
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) |
| Glutaric acidemia (due to ETFB) |
rs104894677 |
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) |
| Glutaric acidemia (due to ETFB) |
rs104894678 |
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) |
| Glutaric acidemia (due to ETFDH) |
rs121964953 |
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) |
| Glutaric acidemia (due to ETFDH) |
rs121964954 |
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) |
| Glutaric acidemia (due to ETFDH) |
rs121964955 |
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) |
| Glutaric acidemia (due to ETFDH) |
rs121964955 |
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) |
| Glutaric acidemia (due to ETFDH) |
rs121964956 |
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) |
| Glutaric acidemia (due to ETFDH) |
rs377656387 |
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) |
| Glutaric acidemia (due to ETFDH) |
rs387907170 |
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) |
| Glutaric acidemia (due to GCDH) |
rs121434367 |
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) |
| Glutaric acidemia (due to GCDH) |
rs121434369 |
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964962 |
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964964 |
NM_000071.3(CBS):c.341C>T (p.Ala114Val) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964969 |
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964970 |
NM_000071.3(CBS):c.502G>A (p.Val168Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964972 |
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs121964973 |
NM_000071.3(CBS):c.572C>T (p.Thr191Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs148865119 |
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs149119723 |
NM_000071.3(CBS):c.785C>T (p.Thr262Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs199948079 |
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs28934891 |
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs372010465 |
NM_000071.3(CBS):c.1111G>A (p.Val371Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs375846341 |
NM_000071.3(CBS):c.1224-2A>C |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs398123151 |
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs5742905 |
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs745704046 |
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs758236584 |
NM_000071.3(CBS):c.770C>T (p.Thr257Met) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs764160782 |
NM_000071.3(CBS):c.667-14_667-7del |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs766453711 |
NM_000071.2(CBS):c.738delG |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs770095972 |
NM_000071.3(CBS):c.362G>A (p.Arg121His) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs770095972 |
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs771298943 |
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs773734233 |
NM_000071.3(CBS):c.700G>A (p.Asp234Asn) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs775351239 |
NM_000071.3(CBS):c.689del (p.Leu230fs) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs775992753 |
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs777919630 |
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs778220779 |
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs779250698 |
NM_000071.3(CBS):c.28del (p.Val10fs) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs781444670 |
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs781567152 |
NM_000071.3(CBS):c.959T>C (p.Val320Ala) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs794727083 |
NM_000071.3(CBS):c.1218del (p.Lys406fs) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs794727835 |
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED (due to CBS) |
rs863223435 |
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) |
| Hemophilia B (due to F9) |
rs137852224 |
NM_000133.4(F9):c.190T>C (p.Cys64Arg) |
| Hemophilia B (due to F9) |
rs137852226 |
NM_000133.4(F9):c.218A>T (p.Glu73Val) |
| Hemophilia B (due to F9) |
rs137852238 |
NM_000133.4(F9):c.572G>A (p.Arg191His) |
| Hemophilia B (due to F9) |
rs137852247 |
NM_000133.4(F9):c.835G>A (p.Ala279Thr) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204428 |
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204429 |
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204430 |
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs138121153 |
NM_000035.4(ALDOB):c.379+1G>T |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs145078268 |
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs1800546 |
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs369586696 |
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs387906225 |
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs41281039 |
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs764826805 |
NM_000035.4(ALDOB):c.324+1G>A |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs76917243 |
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs78340951 |
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMA3) |
rs137852757 |
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs1057516241 |
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs1057516486 |
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs201551805 |
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs763559509 |
NM_000228.3(LAMB3):c.978del (p.Phe327fs) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs777292177 |
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356680 |
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356681 |
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356682 |
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMC2) |
rs118203899 |
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMC2) |
rs80356683 |
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) |
| Homocysteinemia (due to MTHFR) |
rs138189536 |
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) |
| Homocysteinemia (due to MTHFR) |
rs543016186 |
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) |
| Homocystinuria (due to CBS) |
rs121964962 |
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) |
| Homocystinuria (due to CBS) |
rs121964964 |
NM_000071.3(CBS):c.341C>T (p.Ala114Val) |
| Homocystinuria (due to CBS) |
rs121964969 |
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) |
| Homocystinuria (due to CBS) |
rs121964972 |
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) |
| Homocystinuria (due to CBS) |
rs121964973 |
NM_000071.3(CBS):c.572C>T (p.Thr191Met) |
| Homocystinuria (due to CBS) |
rs148865119 |
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) |
| Homocystinuria (due to CBS) |
rs149119723 |
NM_000071.3(CBS):c.785C>T (p.Thr262Met) |
| Homocystinuria (due to CBS) |
rs199948079 |
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) |
| Homocystinuria (due to CBS) |
rs28934891 |
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) |
| Homocystinuria (due to CBS) |
rs372010465 |
NM_000071.3(CBS):c.1111G>A (p.Val371Met) |
| Homocystinuria (due to CBS) |
rs375846341 |
NM_000071.3(CBS):c.1224-2A>C |
| Homocystinuria (due to CBS) |
rs398123151 |
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) |
| Homocystinuria (due to CBS) |
rs5742905 |
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) |
| Homocystinuria (due to CBS) |
rs758236584 |
NM_000071.3(CBS):c.770C>T (p.Thr257Met) |
| Homocystinuria (due to CBS) |
rs763036586 |
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) |
| Homocystinuria (due to CBS) |
rs764160782 |
NM_000071.3(CBS):c.667-14_667-7del |
| Homocystinuria (due to CBS) |
rs766453711 |
NM_000071.2(CBS):c.738delG |
| Homocystinuria (due to CBS) |
rs769080151 |
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) |
| Homocystinuria (due to CBS) |
rs770095972 |
NM_000071.3(CBS):c.362G>A (p.Arg121His) |
| Homocystinuria (due to CBS) |
rs771298943 |
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) |
| Homocystinuria (due to CBS) |
rs775351239 |
NM_000071.3(CBS):c.689del (p.Leu230fs) |
| Homocystinuria (due to CBS) |
rs775992753 |
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) |
| Homocystinuria (due to CBS) |
rs778220779 |
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) |
| Homocystinuria (due to CBS) |
rs779250698 |
NM_000071.3(CBS):c.28del (p.Val10fs) |
| Homocystinuria (due to CBS) |
rs781444670 |
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) |
| Homocystinuria (due to CBS) |
rs781567152 |
NM_000071.3(CBS):c.959T>C (p.Val320Ala) |
| Homocystinuria (due to CBS) |
rs786204608 |
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) |
| Homocystinuria (due to CBS) |
rs786204609 |
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) |
| Homocystinuria (due to CBS) |
rs794727083 |
NM_000071.3(CBS):c.1218del (p.Lys406fs) |
| Homocystinuria (due to CBS) |
rs794727835 |
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) |
| Homocystinuria (due to CBS) |
rs863223432 |
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) |
| Homocystinuria (due to CBS) |
rs863223433 |
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter) |
| Homocystinuria (due to CBS) |
rs863223435 |
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) |
| Inclusion Body Myopathy (due to GNE) |
rs121908629 |
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) |
| Inclusion Body Myopathy (due to GNE) |
rs28937594 |
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) |
| Inclusion Body Myopathy (due to GNE) |
rs748949603 |
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) |
| Inclusion Body Myopathy (due to GNE) |
rs779694939 |
NM_005476.7(GNE):c.647T>C (p.Val216Ala) |
| Inclusion Body Myopathy (due to GNE) |
rs886044449 |
NM_005476.7(GNE):c.1686del (p.Cys563fs) |
| Isovaleric Acidemia (due to IVD) |
rs121434284 |
NM_002225.5(IVD):c.125T>C (p.Leu42Pro) |
| Isovaleric Acidemia (due to IVD) |
rs121434285 |
NM_002225.5(IVD):c.596G>T (p.Gly199Val) |
| Isovaleric Acidemia (due to IVD) |
rs28940889 |
NM_002225.5(IVD):c.932C>T (p.Ala311Val) |
| Joubert Syndrome (due to AHI1) |
rs121434351 |
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) |
| Joubert Syndrome (due to AHI1) |
rs201391050 |
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) |
| Joubert Syndrome (due to AHI1) |
rs372659908 |
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) |
| Joubert Syndrome (due to AHI1) |
rs777668842 |
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) |
| Joubert Syndrome (due to AHI1) |
rs797045223 |
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) |
| Joubert Syndrome (due to AHI1) |
rs863225136 |
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) |
| Joubert Syndrome (due to AHI1) |
rs863225147 |
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) |
| Joubert Syndrome (due to B9D1) |
rs771170000 |
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) |
| Joubert Syndrome (due to B9D2) |
rs757863670 |
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) |
| Joubert Syndrome (due to C2CD3) |
rs587777653 |
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) |
| Joubert Syndrome (due to CC2D2A) |
rs201502401 |
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) |
| Joubert Syndrome (due to CEP290) |
rs386834149 |
NM_025114.4(CEP290):c.1451del (p.Lys484fs) |
| Joubert Syndrome (due to CPLANE1) |
rs374144275 |
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) |
| Joubert Syndrome (due to IFT172) |
rs587777079 |
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) |
| Joubert Syndrome (due to INPP5E) |
rs121918129 |
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) |
| Joubert Syndrome (due to INPP5E) |
rs13297509 |
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) |
| Joubert Syndrome (due to KATNIP) |
rs864309712 |
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter) |
| Joubert Syndrome (due to KIAA0586) |
rs534542684 |
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) |
| Joubert Syndrome (due to MKS1) |
rs386834043 |
NM_017777.4(MKS1):c.1408-34_1408-6del |
| Joubert Syndrome (due to MKS1) |
rs386834044 |
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) |
| Joubert Syndrome (due to MKS1) |
rs386834048 |
NM_017777.4(MKS1):c.417G>A (p.Glu139=) |
| Joubert Syndrome (due to MKS1) |
rs754279998 |
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) |
| Joubert Syndrome (due to MKS1) |
rs773684291 |
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) |
| Joubert Syndrome (due to PIBF1) |
rs17089782 |
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) |
| Joubert Syndrome (due to RPGRIP1L) |
rs121918197 |
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) |
| Joubert Syndrome (due to RPGRIP1L) |
rs121918198 |
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) |
| Joubert Syndrome (due to RPGRIP1L) |
rs121918203 |
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) |
| Joubert Syndrome (due to RPGRIP1L) |
rs121918204 |
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) |
| Joubert Syndrome (due to RPGRIP1L) |
rs145665129 |
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) |
| Joubert Syndrome (due to RPGRIP1L) |
rs61747071 |
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) |
| Joubert Syndrome (due to RPGRIP1L) |
rs778149316 |
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) |
| Joubert Syndrome (due to RPGRIP1L) |
rs786204135 |
NM_015272.5(RPGRIP1L):c.230+1G>A |
| Joubert Syndrome (due to TCTN2) |
rs187433682 |
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) |
| Joubert Syndrome (due to TCTN2) |
rs863225222 |
NM_024809.5(TCTN2):c.76del (p.Asp26fs) |
| Joubert Syndrome (due to TCTN2) |
rs863225222 |
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) |
| Joubert Syndrome (due to TMEM216) |
rs201108965 |
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) |
| Joubert Syndrome (due to TMEM216) |
rs201108965 |
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) |
| Joubert Syndrome (due to TMEM216) |
rs755459875 |
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) |
| Joubert Syndrome (due to TMEM237) |
rs199469707 |
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) |
| Leigh syndrome (due to ECHS1) |
rs587776498 |
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) |
| Leigh syndrome (due to FOXRED1) |
rs398124308 |
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) |
| Leigh syndrome (due to MT-ATP6) |
rs199476133 |
NC_012920.1:m.8993T>G |
| Leigh syndrome (due to MT-ATP6) |
rs199476138 |
NC_012920.1:m.9185T>C |
| Leigh syndrome (due to MT-ND3) |
rs118192098 |
NC_012920.1:m.8344A>G |
| Leigh syndrome (due to MT-ND3) |
rs199476105 |
NC_012920.1:m.14459G>A |
| Leigh syndrome (due to MT-ND3) |
rs199476107 |
NC_012920.1:m.14453G>A |
| Leigh syndrome (due to MT-ND3) |
rs199476109 |
NC_012920.1:m.14487T>C |
| Leigh syndrome (due to MT-ND3) |
rs199476117 |
NC_012920.1:m.10158T>C |
| Leigh syndrome (due to MT-ND3) |
rs199476123 |
NC_012920.1:m.3946G>A |
| Leigh syndrome (due to MT-ND3) |
rs199476144 |
NC_012920.1:m.1624C>T |
| Leigh syndrome (due to MT-ND3) |
rs207459999 |
NC_012920.1:m.15242G>A |
| Leigh syndrome (due to MT-ND3) |
rs267606889 |
NC_012920.1:m.4681T>C |
| Leigh syndrome (due to MT-ND3) |
rs267606890 |
NC_012920.1:m.10191T>C |
| Leigh syndrome (due to MT-ND3) |
rs267606891 |
NC_012920.1:m.10197G>A |
| Leigh syndrome (due to MT-ND3) |
rs267606897 |
NC_012920.1:m.13513G>A |
| Leigh syndrome (due to MT-ND6) |
rs199476104 |
NC_012920.1:m.14484T>C |
| Leigh syndrome (due to MT-TL1) |
rs199474657 |
NC_012920.1:m.3243A>G |
| Leigh syndrome (due to MTFMT) |
rs201431517 |
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) |
| Leigh syndrome (due to NDUFS4) |
rs587776949 |
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) |
| Leigh syndrome (due to NDUFS8) |
rs28939679 |
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) |
| Leigh syndrome (due to NDUFS8) |
rs764276946 |
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) |
| Leigh syndrome (due to SDHA) |
rs142441643 |
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) |
| Leigh syndrome (due to SURF1) |
rs782190413 |
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) |
| Leigh syndrome (due to SURF1) |
rs863224229 |
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) |
| Leigh syndrome (due to SURF1) |
rs863224926 |
NM_003172.4(SURF1):c.106+1G>C |
| Limb-Girdle Muscular Dystrophy Type 2D (due to SGCA) |
rs28933693 |
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) |
| Maple syrup urine disease (due to DBT) |
rs121964999 |
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) |
| Maple syrup urine disease (due to DBT) |
rs185492864 |
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) |
| Maple syrup urine disease (due to DBT) |
rs398123668 |
NM_001918.5(DBT):c.360dup (p.Leu121fs) |
| Maple syrup urine disease (due to DBT) |
rs398123669 |
NM_001918.5(DBT):c.51+1G>T |
| Maple syrup urine disease (due to DBT) |
rs398123676 |
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) |
| Maple syrup urine disease (due to DBT) |
rs727503895 |
NM_001918.5(DBT):c.434-15_434-4del |
| Maple syrup urine disease (due to DBT) |
rs768832921 |
NM_001918.5(DBT):c.75_76del (p.Cys26fs) |
| Maple syrup urine disease (due to DBT) |
rs794727262 |
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs137852870 |
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs137852871 |
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs137852873 |
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs137852874 |
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs137852875 |
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs182923857 |
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs188135164 |
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs373713279 |
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs375785084 |
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123486 |
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123489 |
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123489 |
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123490 |
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123494 |
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123496 |
NM_000709.4(BCKDHA):c.288+1G>A |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123497 |
NM_000709.4(BCKDHA):c.288+9C>T |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123499 |
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123503 |
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123508 |
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123509 |
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123513 |
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs398123515 |
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs796051938 |
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) |
| Maple syrup urine disease Type 1A (due to BCKDHA) |
rs863225262 |
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs149766077 |
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs371518124 |
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs386834233 |
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs386834234 |
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124561 |
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124562 |
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124572 |
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124573 |
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124581 |
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124582 |
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124589 |
NM_183050.4(BCKDHB):c.633+1G>A |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124592 |
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124593 |
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124594 |
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124596 |
NM_183050.4(BCKDHB):c.840+2T>G |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124598 |
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs398124603 |
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs796051940 |
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys) |
| Maple syrup urine disease Type 1B (due to BCKDHB) |
rs79761867 |
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) |
| Metachromatic Leukodystrophy (due to ARSA) |
rs6151429 |
NM_000487.6(ARSA):c.*96A>G |
| Metachromatic leukodystrophy (due to ARSA) |
rs199476349 |
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) |
| Metachromatic leukodystrophy (due to ARSA) |
rs199476366 |
NM_000487.6(ARSA):c.737G>A (p.Arg246His) |
| Metachromatic leukodystrophy (due to ARSA) |
rs199476382 |
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) |
| Metachromatic leukodystrophy (due to ARSA) |
rs199476389 |
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) |
| Metachromatic leukodystrophy (due to ARSA) |
rs199476391 |
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) |
| Metachromatic leukodystrophy (due to ARSA) |
rs28940893 |
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) |
| Metachromatic leukodystrophy (due to ARSA) |
rs28940894 |
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123411 |
NM_000487.6(ARSA):c.1108-2A>G |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123414 |
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123415 |
NM_000487.6(ARSA):c.34del (p.Ala12fs) |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123416 |
NM_000487.6(ARSA):c.583del (p.Trp195fs) |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123418 |
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) |
| Metachromatic leukodystrophy (due to ARSA) |
rs398123419 |
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) |
| Metachromatic leukodystrophy (due to ARSA) |
rs6151411 |
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315455 |
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315457 |
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315458 |
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315459 |
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315461 |
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315467 |
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315468 |
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315470 |
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315471 |
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315472 |
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315473 |
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315475 |
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315476 |
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315479 |
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315480 |
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315481 |
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) |
| Metachromatic leukodystrophy (due to ARSA) |
rs74315483 |
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) |
| Metachromatic leukodystrophy (due to ARSA) |
rs80338815 |
NM_000487.6(ARSA):c.465+1G>A |
| Metachromatic leukodystrophy (due to ARSA) |
rs80338819 |
NM_000487.6(ARSA):c.769G>C (p.Asp257His) |
| Metachromatic leukodystrophy (due to ARSA) |
rs80338820 |
NM_000487.6(ARSA):c.1210+1G>A |
| Methylmalonic Acidemia (due to ACSF3) |
rs150487794 |
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) |
| Methylmalonic Acidemia (due to MMAA) |
rs104893851 |
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) |
| Methylmalonic Acidemia (due to MMAA) |
rs571038432 |
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) |
| Methylmalonic Acidemia (due to MMAA) |
rs796051992 |
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) |
| Methylmalonic Acidemia (due to MMAA) |
rs796051993 |
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) |
| Methylmalonic Acidemia (due to MMAB) |
rs28941784 |
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) |
| Methylmalonic Acidemia (due to MMAB) |
rs369296618 |
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) |
| Methylmalonic Acidemia (due to MMAB) |
rs756414548 |
NM_052845.4(MMAB):c.569G>A (p.Arg190His) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918251 |
NM_000255.4(MMUT):c.278G>A (p.Arg93His) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918252 |
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918254 |
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918256 |
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918257 |
NM_000255.3(MMUT):c.322C>T |
| Methylmalonic Acidemia (due to MMUT) |
rs200019422 |
NM_000255.4(MMUT):c.1560+1G>T |
| Methylmalonic Acidemia (due to MMUT) |
rs398123278 |
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) |
| Methylmalonic Acidemia (due to MMUT) |
rs564069299 |
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) |
| Methylmalonic Acidemia (due to MMUT) |
rs727504020 |
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) |
| Methylmalonic Acidemia (due to MMUT) |
rs753288303 |
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) |
| Methylmalonic Acidemia (due to MMUT) |
rs760782399 |
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) |
| Methylmalonic Acidemia (due to MMUT) |
rs772552898 |
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) |
| Methylmalonic Acidemia (due to MMUT) |
rs779990936 |
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) |
| Methylmalonic Acidemia (due to MMUT) |
rs796052002 |
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) |
| Methylmalonic Acidemia (due to MMUT) |
rs796052006 |
NM_000255.4(MMUT):c.753+2T>A |
| Mucolipidosis (due to MCOLN1) |
rs104886461 |
NM_020533.3(MCOLN1):c.406-2A>G |
| Mucolipidosis Type II (due to GNPTAB) |
rs137852897 |
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) |
| Mucolipidosis Type II (due to GNPTAB) |
rs281864964 |
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) |
| Mucolipidosis Type II (due to GNPTAB) |
rs281865024 |
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) |
| Mucolipidosis Type II (due to GNPTAB) |
rs781689303 |
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) |
| Mucopolysaccharidosis (due to HGSNAT) |
rs121908285 |
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) |
| Mucopolysaccharidosis (due to IDUA) |
rs121965019 |
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) |
| Mucopolysaccharidosis (due to NAGLU) |
rs104894592 |
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) |
| Mucopolysaccharidosis (due to NAGLU) |
rs104894595 |
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) |
| Mucopolysaccharidosis (due to NAGLU) |
rs104894597 |
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) |
| Mucopolysaccharidosis (due to SGSH) |
rs104894635 |
NM_000199.5(SGSH):c.734G>A (p.Arg245His) |
| Mucopolysaccharidosis (due to SGSH) |
rs104894636 |
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) |
| Mucopolysaccharidosis (due to SGSH) |
rs104894637 |
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) |
| Mucopolysaccharidosis (due to SGSH) |
rs138504221 |
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) |
| Nemaline Myopathy (due to KLHL40) |
rs367579275 |
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) |
| Nemaline Myopathy (due to NEB) |
rs191579691 |
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) |
| Nemaline Myopathy (due to NEB) |
rs201553266 |
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) |
| Nemaline Myopathy (due to NEB) |
rs398124167 |
NM_001164508.2(NEB):c.1152+1G>A |
| Nemaline Myopathy (due to NEB) |
rs398124172 |
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) |
| Nemaline Myopathy (due to NEB) |
rs769345284 |
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) |
| Nemaline Myopathy (due to NEB) |
rs773952935 |
NM_001164508.2(NEB):c.294+2T>C |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs267606737 |
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833694 |
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833695 |
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833740 |
NM_001042432.2(CLN3):c.944dup (p.His315fs) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833744 |
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs104894386 |
NM_006493.4(CLN5):c.188G>A (p.Arg63His) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs104894386 |
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs28940280 |
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs386833964 |
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs386833969 |
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs386833980 |
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs386833983 |
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs546989392 |
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs587780315 |
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) |
| Neuronal Ceroid Lipofuscinosis (due to CLN5) |
rs61504484 |
NC_000013.11:g.76992067C>A |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs104894483 |
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs121908080 |
NC_000015.9:g.68504037_68504039delGAT |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs154774634 |
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs154774640 |
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs201095412 |
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) |
| Neuronal Ceroid Lipofuscinosis (due to CLN6) |
rs796052356 |
NM_017882.3(CLN6):c.665+1G>A |
| Neuronal Ceroid Lipofuscinosis (due to CLN8) |
rs104894060 |
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) |
| Neuronal Ceroid Lipofuscinosis (due to CLN8) |
rs104894064 |
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) |
| Neuronal Ceroid Lipofuscinosis (due to CLN8) |
rs144495588 |
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) |
| Neuronal Ceroid Lipofuscinosis (due to CLN8) |
rs765097897 |
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) |
| Neuronal Ceroid Lipofuscinosis (due to KCTD7) |
rs387907246 |
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) |
| Neuronal Ceroid Lipofuscinosis (due to MFSD8) |
rs267607235 |
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852695 |
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852700 |
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs148412181 |
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs386833661 |
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs119455954 |
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs119455955 |
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs121908195 |
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs202189057 |
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs56144125 |
NM_000391.4(TPP1):c.509-1G>A |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs56144125 |
NM_000391.4(TPP1):c.509-1G>C |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs756564767 |
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs759080581 |
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) |
| Neuronal Ceroid Lipofuscinosis (due to TPP1) |
rs786204753 |
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) |
| Niemann-Pick disease (due to NPC1) |
rs120074135 |
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) |
| Niemann-Pick disease (due to NPC1) |
rs139751448 |
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) |
| Niemann-Pick disease (due to NPC1) |
rs150334966 |
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) |
| Niemann-Pick disease (due to NPC1) |
rs190298665 |
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) |
| Niemann-Pick disease (due to NPC1) |
rs200444084 |
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) |
| Niemann-Pick disease (due to NPC1) |
rs28942104 |
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) |
| Niemann-Pick disease (due to NPC1) |
rs28942105 |
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) |
| Niemann-Pick disease (due to NPC1) |
rs28942107 |
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) |
| Niemann-Pick disease (due to NPC1) |
rs28942108 |
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) |
| Niemann-Pick disease (due to NPC1) |
rs369368181 |
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) |
| Niemann-Pick disease (due to NPC1) |
rs372030650 |
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) |
| Niemann-Pick disease (due to NPC1) |
rs374526072 |
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) |
| Niemann-Pick disease (due to NPC1) |
rs398123284 |
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) |
| Niemann-Pick disease (due to NPC1) |
rs483352886 |
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) |
| Niemann-Pick disease (due to NPC1) |
rs543206298 |
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) |
| Niemann-Pick disease (due to NPC1) |
rs756815030 |
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) |
| Niemann-Pick disease (due to NPC1) |
rs758902805 |
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) |
| Niemann-Pick disease (due to NPC1) |
rs759826138 |
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) |
| Niemann-Pick disease (due to NPC1) |
rs777286835 |
NM_000271.4(NPC1):c.2213C>A |
| Niemann-Pick disease (due to NPC1) |
rs786200877 |
NM_000271.5(NPC1):c.3591+1G>A |
| Niemann-Pick disease (due to NPC1) |
rs786204455 |
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) |
| Niemann-Pick disease (due to NPC1) |
rs794727897 |
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) |
| Niemann-Pick disease (due to NPC1) |
rs80358252 |
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) |
| Niemann-Pick disease (due to NPC1) |
rs80358253 |
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) |
| Niemann-Pick disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) |
| Niemann-Pick disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) |
| Niemann-Pick disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) |
| Niemann-Pick disease (due to NPC1) |
rs80358257 |
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) |
| Niemann-Pick disease (due to NPC1) |
rs80358259 |
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) |
| Niemann-Pick disease (due to NPC1) |
rs886042268 |
NM_000271.5(NPC1):c.3246-2A>G |
| Niemann-Pick disease (due to NPC1) |
rs886042270 |
NM_000271.5(NPC1):c.1920del (p.His641fs) |
| Oculocutaneous Albinism (due to TYR) |
rs104894313 |
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) |
| Oculocutaneous Albinism (due to TYR) |
rs104894314 |
NM_000372.5(TYR):c.823G>T (p.Val275Phe) |
| Oculocutaneous Albinism (due to TYR) |
rs104894317 |
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) |
| Oculocutaneous Albinism (due to TYR) |
rs28940876 |
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) |
| Oculocutaneous Albinism (due to TYR) |
rs61754365 |
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) |
| Oculocutaneous Albinism (due to TYR) |
rs61754381 |
NM_000372.5(TYR):c.1037-7T>A |
| Oculocutaneous Albinism (due to TYR) |
rs61754388 |
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) |
| Oculocutaneous Albinism (due to TYR) |
rs62645904 |
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) |
| Pendred syndrome (due to SLC26A4) |
rs111033199 |
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) |
| Pendred syndrome (due to SLC26A4) |
rs111033200 |
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) |
| Pendred syndrome (due to SLC26A4) |
rs111033205 |
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) |
| Pendred syndrome (due to SLC26A4) |
rs111033205 |
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) |
| Pendred syndrome (due to SLC26A4) |
rs111033212 |
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) |
| Pendred syndrome (due to SLC26A4) |
rs111033220 |
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) |
| Pendred syndrome (due to SLC26A4) |
rs111033241 |
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) |
| Pendred syndrome (due to SLC26A4) |
rs111033242 |
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) |
| Pendred syndrome (due to SLC26A4) |
rs111033244 |
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) |
| Pendred syndrome (due to SLC26A4) |
rs111033245 |
NM_000441.2(SLC26A4):c.918+1G>T |
| Pendred syndrome (due to SLC26A4) |
rs111033254 |
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) |
| Pendred syndrome (due to SLC26A4) |
rs111033256 |
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) |
| Pendred syndrome (due to SLC26A4) |
rs111033257 |
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) |
| Pendred syndrome (due to SLC26A4) |
rs111033302 |
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) |
| Pendred syndrome (due to SLC26A4) |
rs111033303 |
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) |
| Pendred syndrome (due to SLC26A4) |
rs111033305 |
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) |
| Pendred syndrome (due to SLC26A4) |
rs111033306 |
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) |
| Pendred syndrome (due to SLC26A4) |
rs111033307 |
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) |
| Pendred syndrome (due to SLC26A4) |
rs111033308 |
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) |
| Pendred syndrome (due to SLC26A4) |
rs111033309 |
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) |
| Pendred syndrome (due to SLC26A4) |
rs111033311 |
NM_000441.2(SLC26A4):c.1264-1G>C |
| Pendred syndrome (due to SLC26A4) |
rs111033312 |
NM_000441.2(SLC26A4):c.1614+1G>A |
| Pendred syndrome (due to SLC26A4) |
rs111033313 |
NM_000441.2(SLC26A4):c.919-2A>G |
| Pendred syndrome (due to SLC26A4) |
rs111033316 |
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) |
| Pendred syndrome (due to SLC26A4) |
rs111033318 |
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) |
| Pendred syndrome (due to SLC26A4) |
rs111033348 |
NM_000441.1(SLC26A4):c.578C>T |
| Pendred syndrome (due to SLC26A4) |
rs111033407 |
NM_000441.1(SLC26A4):c.1342-2_1343dup |
| Pendred syndrome (due to SLC26A4) |
rs111033454 |
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) |
| Pendred syndrome (due to SLC26A4) |
rs121908362 |
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) |
| Pendred syndrome (due to SLC26A4) |
rs121908363 |
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) |
| Pendred syndrome (due to SLC26A4) |
rs145254330 |
NM_000441.1(SLC26A4):c.349C>T |
| Pendred syndrome (due to SLC26A4) |
rs147952620 |
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) |
| Pendred syndrome (due to SLC26A4) |
rs199588131 |
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) |
| Pendred syndrome (due to SLC26A4) |
rs28939086 |
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) |
| Pendred syndrome (due to SLC26A4) |
rs397516411 |
NM_000441.2(SLC26A4):c.-3-2A>G |
| Pendred syndrome (due to SLC26A4) |
rs397516413 |
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) |
| Pendred syndrome (due to SLC26A4) |
rs397516414 |
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) |
| Pendred syndrome (due to SLC26A4) |
rs397516416 |
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) |
| Pendred syndrome (due to SLC26A4) |
rs397516417 |
NM_000441.2(SLC26A4):c.1341+1del |
| Pendred syndrome (due to SLC26A4) |
rs397516418 |
NM_000441.2(SLC26A4):c.1437+2T>G |
| Pendred syndrome (due to SLC26A4) |
rs397516420 |
NM_000441.2(SLC26A4):c.164+2T>C |
| Pendred syndrome (due to SLC26A4) |
rs397516424 |
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) |
| Pendred syndrome (due to SLC26A4) |
rs397516427 |
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) |
| Pendred syndrome (due to SLC26A4) |
rs397516430 |
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) |
| Pendred syndrome (due to SLC26A4) |
rs397516432 |
NM_000441.2(SLC26A4):c.765+2T>C |
| Pendred syndrome (due to SLC26A4) |
rs542620119 |
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) |
| Pendred syndrome (due to SLC26A4) |
rs60284988 |
NM_000441.2(SLC26A4):c.-103T>C |
| Pendred syndrome (due to SLC26A4) |
rs727503428 |
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) |
| Pendred syndrome (due to SLC26A4) |
rs727503430 |
NM_000441.2(SLC26A4):c.2089+1G>A |
| Pendred syndrome (due to SLC26A4) |
rs727503431 |
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) |
| Pendred syndrome (due to SLC26A4) |
rs80338848 |
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) |
| Pendred syndrome (due to SLC26A4) |
rs80338849 |
NM_000441.2(SLC26A4):c.1001+1G>A |
| Pendred syndrome (due to SLC26A4) |
rs876657722 |
NM_000441.2(SLC26A4):c.1544+1G>A |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs121434254 |
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs121434256 |
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs179363878 |
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs179363882 |
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs179363889 |
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs193922417 |
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs193922418 |
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs199612115 |
NM_000383.4(AIRE):c.652+1G>T |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs386833675 |
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs786204567 |
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) |
| Pompe Disease (due to GAA) |
rs121907937 |
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) |
| Pompe Disease (due to GAA) |
rs121907938 |
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) |
| Pompe Disease (due to GAA) |
rs121907942 |
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) |
| Pompe Disease (due to GAA) |
rs121907943 |
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) |
| Pompe Disease (due to GAA) |
rs121907944 |
NM_000152.5(GAA):c.710C>T (p.Ala237Val) |
| Pompe Disease (due to GAA) |
rs140826989 |
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) |
| Pompe Disease (due to GAA) |
rs142752477 |
NM_000152.5(GAA):c.1124G>A (p.Arg375His) |
| Pompe Disease (due to GAA) |
rs1800312 |
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) |
| Pompe Disease (due to GAA) |
rs28937909 |
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) |
| Pompe Disease (due to GAA) |
rs28940868 |
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) |
| Pompe Disease (due to GAA) |
rs28940868 |
NM_000152.5(GAA):c.1935C>T (p.Asp645=) |
| Pompe Disease (due to GAA) |
rs368438393 |
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) |
| Pompe Disease (due to GAA) |
rs369532274 |
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) |
| Pompe Disease (due to GAA) |
rs370950728 |
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) |
| Pompe Disease (due to GAA) |
rs374143224 |
NM_000152.5(GAA):c.1979G>A (p.Arg660His) |
| Pompe Disease (due to GAA) |
rs374470794 |
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) |
| Pompe Disease (due to GAA) |
rs386834235 |
NM_000152.5(GAA):c.525del (p.Glu176fs) |
| Pompe Disease (due to GAA) |
rs386834236 |
NM_000152.5(GAA):c.-32-13T>G |
| Pompe Disease (due to GAA) |
rs398123169 |
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) |
| Pompe Disease (due to GAA) |
rs398123173 |
NM_000152.5(GAA):c.2544del (p.Lys849fs) |
| Pompe Disease (due to GAA) |
rs398123174 |
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) |
| Pompe Disease (due to GAA) |
rs757700700 |
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) |
| Pompe Disease (due to GAA) |
rs779556619 |
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) |
| Pompe Disease (due to GAA) |
rs781088002 |
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) |
| Pompe Disease (due to GAA) |
rs786204507 |
NM_000152.5(GAA):c.1051del (p.Val351fs) |
| Pompe Disease (due to GAA) |
rs786204549 |
NM_000152.5(GAA):c.2140del (p.His714fs) |
| Pompe Disease (due to GAA) |
rs886043920 |
NM_000152.5(GAA):c.736del (p.Leu246fs) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs114269482 |
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs185551386 |
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs267607054 |
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs28383481 |
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs386134210 |
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552725 |
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552734 |
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs727504159 |
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) |
| Primary Hyperoxaluria (due to AGXT) |
rs121908524 |
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) |
| Primary Hyperoxaluria (due to AGXT) |
rs121908525 |
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) |
| Primary Hyperoxaluria (due to AGXT) |
rs121908529 |
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) |
| Primary Hyperoxaluria (due to AGXT) |
rs121908530 |
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177156 |
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177166 |
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177221 |
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177241 |
NM_000030.3(AGXT):c.577del (p.Leu193fs) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177241 |
NM_000030.3(AGXT):c.577dup (p.Leu193fs) |
| Primary Hyperoxaluria (due to AGXT) |
rs180177267 |
NM_000030.3(AGXT):c.777-1G>C |
| Primary Hyperoxaluria (due to AGXT) |
rs180177301 |
NM_000030.3(AGXT):c.976del (p.Val326fs) |
| Primary Hyperoxaluria (due to AGXT) |
rs34116584 |
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177307 |
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177316 |
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177321 |
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) |
| Primary Hyperoxaluria type III (due to HOGA1) |
rs185803104 |
NM_138413.4(HOGA1):c.700+5G>T |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs104893684 |
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs115129687 |
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs121918558 |
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs1799807 |
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs28933390 |
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) |
| Pycnodysostosis (due to CTSK) |
rs29001685 |
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) |
| Pycnodysostosis (due to CTSK) |
rs74315303 |
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) |
| Pycnodysostosis (due to CTSK) |
rs74315304 |
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) |
| Pycnodysostosis (due to CTSK) |
rs74315305 |
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909151 |
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909152 |
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909154 |
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs148591292 |
NM_000288.4(PEX7):c.903+1G>C |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs1805137 |
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs61753238 |
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs62636519 |
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) |
| Salla disease (due to SLC17A5) |
rs1057517028 |
NM_012434.5(SLC17A5):c.819+1G>A |
| Salla disease (due to SLC17A5) |
rs201284672 |
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) |
| Salla disease (due to SLC17A5) |
rs386833989 |
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) |
| Salla disease (due to SLC17A5) |
rs386833990 |
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) |
| Salla disease (due to SLC17A5) |
rs386833994 |
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) |
| Salla disease (due to SLC17A5) |
rs386833996 |
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) |
| Salla disease (due to SLC17A5) |
rs727504156 |
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) |
| Salla disease (due to SLC17A5) |
rs794729653 |
NM_012434.5(SLC17A5):c.409del (p.Met137fs) |
| Salla disease (due to SLC17A5) |
rs80338794 |
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) |
| Salla disease (due to SLC17A5) |
rs80338795 |
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) |
| Sickle Cell Anemia (due to HBB) |
rs334 |
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs387906256 |
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547561 |
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547562 |
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547569 |
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547571 |
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547575 |
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) |
| Tyrosinemia Type I (due to FAH) |
rs121965073 |
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) |
| Tyrosinemia Type I (due to FAH) |
rs121965075 |
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) |
| Tyrosinemia Type I (due to FAH) |
rs370686447 |
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) |
| Tyrosinemia Type I (due to FAH) |
rs80338894 |
NM_000137.4(FAH):c.192G>T (p.Gln64His) |
| Tyrosinemia Type I (due to FAH) |
rs80338895 |
NM_000137.4(FAH):c.554-1G>T |
| Tyrosinemia Type I (due to FAH) |
rs80338897 |
NM_000137.4(FAH):c.698A>T (p.Asp233Val) |
| Tyrosinemia Type I (due to FAH) |
rs80338898 |
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) |
| Tyrosinemia Type I (due to FAH) |
rs80338899 |
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) |
| Tyrosinemia Type I (due to FAH) |
rs80338900 |
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) |
| Tyrosinemia Type I (due to FAH) |
rs80338901 |
NM_000137.4(FAH):c.1062+5G>A |
| Usher syndrome (due to ADGRV1) |
rs121909762 |
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) |
| Usher syndrome (due to ADGRV1) |
rs200945405 |
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) |
| Usher syndrome (due to ADGRV1) |
rs41303344 |
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) |
| Usher syndrome (due to CDH23) |
rs111033270 |
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) |
| Usher syndrome (due to CDH23) |
rs397517349 |
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) |
| Usher syndrome (due to GUCA1A) |
rs104893968 |
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) |
| Usher syndrome (due to MYO7A) |
rs111033178 |
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) |
| Usher syndrome (due to MYO7A) |
rs111033181 |
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) |
| Usher syndrome (due to MYO7A) |
rs111033201 |
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) |
| Usher syndrome (due to MYO7A) |
rs111033347 |
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) |
| Usher syndrome (due to MYO7A) |
rs111033486 |
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) |
| Usher syndrome (due to MYO7A) |
rs121965079 |
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) |
| Usher syndrome (due to MYO7A) |
rs377670513 |
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) |
| Usher syndrome (due to MYO7A) |
rs397516322 |
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) |
| Usher syndrome (due to MYO7A) |
rs397516323 |
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) |
| Usher syndrome (due to MYO7A) |
rs397516332 |
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) |
| Usher syndrome (due to MYO7A) |
rs797044491 |
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) |
| Usher syndrome (due to MYO7A) |
rs797044511 |
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) |
| Usher syndrome (due to USH1C) |
rs151045328 |
NM_153676.4(USH1C):c.216G>A (p.Val72=) |
| Usher syndrome (due to USH2A) |
rs111033264 |
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) |
| Usher syndrome (due to USH2A) |
rs111033280 |
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) |
| Usher syndrome (due to USH2A) |
rs121912599 |
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) |
| Usher syndrome (due to USH2A) |
rs121912600 |
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) |
| Usher syndrome (due to USH2A) |
rs148660051 |
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) |
| Usher syndrome (due to USH2A) |
rs201238640 |
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) |
| Usher syndrome (due to USH2A) |
rs201657446 |
NM_206933.4(USH2A):c.7595-3C>G |
| Usher syndrome (due to USH2A) |
rs368049814 |
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) |
| Usher syndrome (due to USH2A) |
rs369522997 |
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) |
| Usher syndrome (due to USH2A) |
rs372347027 |
NM_206933.4(USH2A):c.8682-9A>G |
| Usher syndrome (due to USH2A) |
rs375668376 |
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) |
| Usher syndrome (due to USH2A) |
rs397518022 |
NM_206933.4(USH2A):c.5857+2T>C |
| Usher syndrome (due to USH2A) |
rs397518039 |
NM_206933.4(USH2A):c.8559-2A>G |
| Usher syndrome (due to USH2A) |
rs397518041 |
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) |
| Usher syndrome (due to USH2A) |
rs397518043 |
NM_206933.4(USH2A):c.920_923dup (p.His308fs) |
| Usher syndrome (due to USH2A) |
rs727503731 |
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) |
| Usher syndrome (due to USH2A) |
rs753330544 |
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) |
| Usher syndrome (due to USH2A) |
rs80338902 |
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) |
| Usher syndrome (due to USH2A) |
rs80338903 |
NM_206933.4(USH2A):c.2299del (p.Glu767fs) |
| Usher syndrome (due to USH2A) |
rs876657731 |
NM_206933.4(USH2A):c.5776+1G>A |
| Usher syndrome (due to USH2A) |
rs886039450 |
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) |
| Usher syndrome type 1F (due to PCDH15) |
rs111033260 |
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) |
| Usher syndrome type 3A (due to CLRN1) |
rs374963432 |
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) |
| Usher syndrome type 3A (due to CLRN1) |
rs397517932 |
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs112406105 |
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs113994167 |
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs113994169 |
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs113994171 |
NM_000018.4(ACADVL):c.1679-6G>A |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs118204014 |
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs118204016 |
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs118204018 |
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs138834083 |
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs140629318 |
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs148584617 |
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs200771970 |
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs2309689 |
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs369560930 |
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs387906249 |
NM_000018.4(ACADVL):c.343del |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs387906251 |
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs387906252 |
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs398123079 |
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs398123083 |
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs398123084 |
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs398123091 |
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs398123092 |
NM_000018.4(ACADVL):c.753-2A>C |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs533055438 |
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs545215807 |
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs727503788 |
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs727503791 |
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs751995154 |
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs753108198 |
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs766742117 |
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs771874163 |
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs794727113 |
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs794727773 |
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs796051912 |
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs796051913 |
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs796051914 |
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs796051917 |
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) |
| Very long chain acyl-CoA dehydrogenase deficiency (due to ACADVL) |
rs796051920 |
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs267608179 |
NM_000466.3(PEX1):c.2926+1G>A |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs398123409 |
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750415 |
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750418 |
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750420 |
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750426 |
NM_000466.3(PEX1):c.2916del (p.Gly973fs) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs762324548 |
NM_000466.3(PEX1):c.2922del (p.Leu974fs) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs786205656 |
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) |
| Zellweger Syndrome Spectrum (due to PEX10) |
rs61750435 |
NM_002617.4(PEX10):c.704dup (p.Leu236fs) |
| Zellweger Syndrome Spectrum (due to PEX10) |
rs61752093 |
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) |
| Zellweger Syndrome Spectrum (due to PEX2) |
rs61752123 |
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) |
| Zellweger Syndrome Spectrum (due to PEX2) |
rs764771123 |
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) |
| Zellweger Syndrome Spectrum (due to PEX6) |
rs267608216 |
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) |
| alpha Thalassemia (due to HBA2) |
rs41397847 |
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) |
| alpha Thalassemia (due to HBA2) |
rs41397847 |
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) |
| alpha Thalassemia (due to HBA2) |
rs41397847 |
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) |
| alpha Thalassemia (due to HBA2) |
rs41417548 |
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) |
| alpha Thalassemia (due to HBA2) |
rs41464951 |
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) |
United States (USD)
Singapore (SGD)
Thailand (THB)
African Country (USD)
Australia (AUD)
Canada (USD)
Egypt (USD)
European Country (EUR)
India (USD)
Indonesia (IDR)
Iran (USD)
Iraq (USD)
Japan (JPY)
Myanmar (USD)
Oman (USD)
Qatar (USD)
Saudi Arabia (USD)
Switzerland (CHF)
Taiwan (USD)
Turkey (USD)
UAE (USD)
United Kingdom (GBP)
International (USD)
