| 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) |
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