| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913007 |
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs121913011 |
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs1555671441 |
NM_001943.5(DSG2):c.691-1G>A |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs397514038 |
NM_001943.5(DSG2):c.1880-2A>G |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs750176752 |
NM_001943.5(DSG2):c.690+1G>A |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs794728086 |
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 (due to DSG2) |
rs794728091 |
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) |
| Arrhythmogenic right ventricular cardiomyopathy, type 11 (due to DSC2) |
rs769022411 |
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) |
| Arrhythmogenic right ventricular cardiomyopathy, type 12 (due to JUP) |
rs113994176 |
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs1060500607 |
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs1060500609 |
NM_004415.4(DSP):c.1883del (p.Gly628fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs121912996 |
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs121912999 |
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs1554108152 |
NM_004415.4(DSP):c.6273del (p.Ala2092fs) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs193922671 |
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs397516915 |
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs397516955 |
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs606231294 |
NM_004415.4(DSP):c.939+1G>A |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs727504443 |
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs770873593 |
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs778178956 |
NM_004415.4(DSP):c.2436+2T>C |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs794728124 |
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs879254353 |
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs886039178 |
NM_004415.4(DSP):c.2437-1G>C |
| Arrhythmogenic right ventricular dysplasia 8 (due to DSP) |
rs886039343 |
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs1060501186 |
NM_004572.3(PKP2):c.1844C>T (p.Ser615Phe) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs121434420 |
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs1486464304 |
NM_004572.3(PKP2):c.1848C>A (p.Tyr616Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs1555143134 |
NM_004572.3(PKP2):c.1725_1728dup (p.Arg577fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs1565599473 |
NM_004572.3(PKP2):c.499C>T (p.Gln167Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs372827156 |
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397516986 |
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs397517012 |
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs727504432 |
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs751288871 |
NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs754912778 |
NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs762753884 |
NM_004572.3(PKP2):c.1978C>T (p.Gln660Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs763639737 |
NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs767987619 |
NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs769220833 |
NM_004572.3(PKP2):c.533dup (p.His179fs) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729132 |
NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) |
| Arrhythmogenic right ventricular dysplasia 9 (due to PKP2) |
rs794729133 |
NM_004572.3(PKP2):c.1171-2A>G |
| Brugada syndrome (due to SCN5A) |
rs1057520531 |
NM_198056.2(SCN5A):c.4437+5G>A |
| Brugada syndrome (due to SCN5A) |
rs1060501129 |
NM_000335.4(SCN5A):c.5587G>T (p.Glu1863Ter) |
| Brugada syndrome (due to SCN5A) |
rs1060501130 |
NM_198056.2(SCN5A):c.2787+1G>T |
| Brugada syndrome (due to SCN5A) |
rs1060501145 |
NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter) |
| Brugada syndrome (due to SCN5A) |
rs1064795085 |
NM_198056.2(SCN5A):c.1921C>T (p.Gln641Ter) |
| Brugada syndrome (due to SCN5A) |
rs1204915217 |
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) |
| Brugada syndrome (due to SCN5A) |
rs1366120635 |
NM_198056.2(SCN5A):c.3840+1G>A |
| Brugada syndrome (due to SCN5A) |
rs137854601 |
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) |
| Brugada syndrome (due to SCN5A) |
rs137854604 |
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) |
| Brugada syndrome (due to SCN5A) |
rs137854611 |
NM_198056.2(SCN5A):c.2204C>A (p.Ala735Glu) |
| Brugada syndrome (due to SCN5A) |
rs137854611 |
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) |
| Brugada syndrome (due to SCN5A) |
rs137854612 |
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) |
| Brugada syndrome (due to SCN5A) |
rs1417036453 |
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) |
| Brugada syndrome (due to SCN5A) |
rs1480085793 |
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) |
| Brugada syndrome (due to SCN5A) |
rs1553692734 |
NM_198056.2(SCN5A):c.5386G>T (p.Glu1796Ter) |
| Brugada syndrome (due to SCN5A) |
rs1553695282 |
NM_198056.2(SCN5A):c.4147C>T (p.Gln1383Ter) |
| Brugada syndrome (due to SCN5A) |
rs1553695764 |
NM_198056.2(SCN5A):c.3946C>T (p.Arg1316Ter) |
| Brugada syndrome (due to SCN5A) |
rs1553699747 |
NM_198056.2(SCN5A):c.2968C>T (p.Gln990Ter) |
| Brugada syndrome (due to SCN5A) |
rs199473083 |
NM_198056.2(SCN5A):c.845G>A (p.Arg282His) |
| Brugada syndrome (due to SCN5A) |
rs199473097 |
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) |
| Brugada syndrome (due to SCN5A) |
rs199473168 |
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) |
| Brugada syndrome (due to SCN5A) |
rs199473171 |
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) |
| Brugada syndrome (due to SCN5A) |
rs199473172 |
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) |
| Brugada syndrome (due to SCN5A) |
rs199473220 |
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) |
| Brugada syndrome (due to SCN5A) |
rs199473282 |
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) |
| Brugada syndrome (due to SCN5A) |
rs199473305 |
NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg) |
| Brugada syndrome (due to SCN5A) |
rs199473311 |
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) |
| Brugada syndrome (due to SCN5A) |
rs199473554 |
NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) |
| Brugada syndrome (due to SCN5A) |
rs28937317 |
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) |
| Brugada syndrome (due to SCN5A) |
rs397514450 |
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) |
| Brugada syndrome (due to SCN5A) |
rs483353016 |
NM_000335.5(SCN5A):c.3960+1G>A |
| Brugada syndrome (due to SCN5A) |
rs72549410 |
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) |
| Brugada syndrome (due to SCN5A) |
rs727505158 |
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) |
| Brugada syndrome (due to SCN5A) |
rs748312802 |
NM_198056.2(SCN5A):c.4132G>A (p.Val1378Met) |
| Brugada syndrome (due to SCN5A) |
rs749697698 |
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) |
| Brugada syndrome (due to SCN5A) |
rs759235726 |
NM_000335.5(SCN5A):c.393-1C>T |
| Brugada syndrome (due to SCN5A) |
rs761505217 |
NM_198056.2(SCN5A):c.4912C>T (p.Arg1638Ter) |
| Brugada syndrome (due to SCN5A) |
rs777689378 |
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) |
| Brugada syndrome (due to SCN5A) |
rs794728843 |
NM_198056.2(SCN5A):c.611+1G>A |
| Brugada syndrome (due to SCN5A) |
rs794728846 |
NM_000335.5(SCN5A):c.483-1G>A |
| Brugada syndrome (due to SCN5A) |
rs794728865 |
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) |
| Brugada syndrome (due to SCN5A) |
rs794728898 |
NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) |
| Brugada syndrome (due to SCN5A) |
rs794728906 |
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) |
| Brugada syndrome (due to SCN5A) |
rs863224532 |
NM_000335.4(SCN5A):c.4179C>G (p.Tyr1393Ter) |
| Brugada syndrome (due to SCN5A) |
rs863225273 |
NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) |
| Brugada syndrome (due to SCN5A) |
rs878855292 |
NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) |
| Cardiomyopathy (due to ABCC9) |
rs193922683 |
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) |
| Cardiomyopathy (due to ACTC1) |
rs193922680 |
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) |
| Cardiomyopathy (due to CRYAB) |
rs202024436 |
NM_001289808.2(CRYAB):c.325-2A>G |
| Cardiomyopathy (due to CSRP3) |
rs193922667 |
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) |
| Cardiomyopathy (due to DSC2) |
rs397517408 |
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) |
| Cardiomyopathy (due to DSG2) |
rs1064793983 |
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) |
| Cardiomyopathy (due to DSP) |
rs121912998 |
NM_004415.4(DSP):c.88G>A (p.Val30Met) |
| Cardiomyopathy (due to DSP) |
rs397516915 |
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) |
| Cardiomyopathy (due to DSP) |
rs397516955 |
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) |
| Cardiomyopathy (due to DSP) |
rs746877365 |
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) |
| Cardiomyopathy (due to DSP) |
rs770873593 |
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) |
| Cardiomyopathy (due to DSP) |
rs774763657 |
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) |
| Cardiomyopathy (due to DSP) |
rs794728124 |
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) |
| Cardiomyopathy (due to DSP) |
rs869025395 |
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs1444727212 |
NM_000256.3(MYBPC3):c.2067+1G>A |
| Cardiomyopathy (due to MYBPC3) |
rs1565627110 |
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) |
| Cardiomyopathy (due to MYBPC3) |
rs368121566 |
NM_000256.3(MYBPC3):c.852-1G>A |
| Cardiomyopathy (due to MYBPC3) |
rs397515934 |
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) |
| Cardiomyopathy (due to MYBPC3) |
rs397516057 |
NM_000256.3(MYBPC3):c.506-2A>C |
| Cardiomyopathy (due to MYBPC3) |
rs397516077 |
NM_000256.3(MYBPC3):c.821+5G>A |
| Cardiomyopathy (due to MYBPC3) |
rs730880336 |
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) |
| Cardiomyopathy (due to MYBPC3) |
rs730880531 |
NM_000256.3(MYBPC3):c.1227-2A>G |
| Cardiomyopathy (due to MYBPC3) |
rs730880546 |
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) |
| Cardiomyopathy (due to MYBPC3) |
rs730880686 |
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) |
| Cardiomyopathy (due to MYH7) |
rs193922390 |
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) |
| Cardiomyopathy (due to MYH7) |
rs202141173 |
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) |
| Cardiomyopathy (due to MYH7) |
rs397516132 |
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) |
| Cardiomyopathy (due to MYH7) |
rs397516201 |
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) |
| Cardiomyopathy (due to MYH7) |
rs397516207 |
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) |
| Cardiomyopathy (due to MYH7) |
rs397516212 |
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) |
| Cardiomyopathy (due to MYH7) |
rs727503246 |
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) |
| Cardiomyopathy (due to MYH7) |
rs727504320 |
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln) |
| Cardiomyopathy (due to MYH7) |
rs727504325 |
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) |
| Cardiomyopathy (due to MYL2) |
rs751392310 |
NM_000432.3(MYL2):c.92_93+1del |
| Cardiomyopathy (due to MYL3) |
rs104893750 |
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) |
| Cardiomyopathy (due to MYLK2) |
rs193922712 |
NM_033118.3(MYLK2):c.595A>G (p.Ile199Val) |
| Cardiomyopathy (due to PRKAG2) |
rs193922697 |
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) |
| Cardiomyopathy (due to PRKAG2) |
rs267606976 |
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) |
| Cardiomyopathy (due to RYR2) |
rs794728826 |
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) |
| Cardiomyopathy (due to TMEM43) |
rs778127887 |
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) |
| Cardiomyopathy (due to TNNI3) |
rs397516347 |
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) |
| Cardiomyopathy (due to TNNI3) |
rs730881069 |
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) |
| Cardiomyopathy (due to TNNT2) |
rs121964857 |
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) |
| Cardiomyopathy (due to TNNT2) |
rs483352832 |
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) |
| Cardiomyopathy (due to TNNT2) |
rs730881119 |
NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) |
| Cardiomyopathy (due to TPM1) |
rs397516386 |
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) |
| Cardiomyopathy (due to TPM1) |
rs727504290 |
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs786205791 |
NM_001232.3(CASQ2):c.606+1G>C |
| Catecholaminergic polymorphic ventricular tachycardia (due to CASQ2) |
rs876657635 |
NM_001232.4(CASQ2):c.940-1G>T |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1060500137 |
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1060500142 |
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs121918605 |
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1226397753 |
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1291829047 |
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs1553454821 |
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs397516508 |
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs771994461 |
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728708 |
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728721 |
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728740 |
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728754 |
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728777 |
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728786 |
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728787 |
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728804 |
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728810 |
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728811 |
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs794728832 |
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) |
| Catecholaminergic polymorphic ventricular tachycardia (due to RYR2) |
rs876661386 |
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) |
| Catecholaminergic polymorphic ventricular tachycardia (due to TRDN) |
rs397515458 |
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) |
| Cerebral arteriovenous malformation (due to IL17RD) |
rs577890523 |
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) |
| Cerebral arteriovenous malformation (due to MAP4K4) |
rs781410462 |
NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln) |
| Cerebral cavernous malformation (due to KRIT1) |
rs771656368 |
NM_194456.1(KRIT1):c.196C>T (p.Gln66Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1057518372 |
NM_000090.3(COL3A1):c.897+1G>A |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs112532745 |
NM_000090.3(COL3A1):c.4011+1G>T |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs113485686 |
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912915 |
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912919 |
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912921 |
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs121912924 |
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1559060412 |
NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1576463632 |
NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1576468562 |
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs1576471840 |
NM_000090.3(COL3A1):c.3158G>A (p.Gly1053Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs201314784 |
NM_000090.3(COL3A1):c.852+2T>C |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs375737772 |
NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs387906557 |
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509369 |
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509376 |
NM_000090.3(COL3A1):c.1869+5G>A |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs397509376 |
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs553203474 |
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779417 |
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779418 |
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779419 |
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779420 |
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779421 |
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779422 |
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779424 |
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779428 |
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779432 |
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779434 |
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779436 |
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779439 |
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779445 |
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779447 |
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779453 |
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779455 |
NM_000090.3(COL3A1):c.766del (p.Ile256fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779456 |
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779457 |
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779457 |
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779460 |
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779461 |
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779463 |
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779466 |
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779472 |
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779476 |
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779478 |
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779479 |
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779481 |
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779482 |
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779483 |
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779485 |
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779486 |
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779488 |
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779489 |
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779491 |
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779492 |
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779494 |
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779495 |
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779496 |
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779498 |
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779499 |
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779501 |
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779505 |
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779507 |
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779515 |
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779517 |
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779519 |
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779520 |
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779521 |
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779526 |
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779531 |
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779532 |
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779534 |
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779536 |
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779540 |
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779542 |
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779543 |
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779544 |
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779545 |
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779546 |
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779547 |
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779549 |
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779554 |
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779555 |
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779556 |
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779557 |
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779562 |
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779563 |
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779564 |
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779565 |
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779566 |
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779567 |
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779570 |
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779574 |
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779576 |
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779577 |
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779580 |
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779581 |
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779582 |
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779586 |
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779592 |
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779593 |
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779595 |
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779596 |
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779599 |
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779600 |
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779601 |
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779603 |
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779604 |
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779606 |
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779607 |
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779610 |
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779611 |
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779613 |
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779614 |
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779615 |
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779618 |
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779619 |
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779620 |
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779621 |
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779623 |
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779624 |
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779627 |
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779630 |
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779631 |
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779632 |
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779634 |
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779635 |
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779637 |
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779638 |
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779639 |
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779641 |
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779642 |
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779646 |
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779648 |
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779649 |
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779650 |
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779651 |
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779652 |
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779656 |
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779658 |
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779659 |
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779660 |
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779663 |
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779666 |
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779673 |
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779674 |
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779677 |
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779679 |
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779680 |
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779682 |
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779684 |
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779687 |
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779688 |
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779689 |
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779690 |
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779691 |
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779692 |
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779696 |
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779697 |
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779698 |
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779699 |
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779703 |
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779710 |
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779712 |
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779715 |
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779717 |
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779718 |
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779720 |
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779721 |
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779722 |
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs587779723 |
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs794728060 |
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs863224860 |
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) |
| Ehlers-Danlos syndrome, type 4 (due to COL3A1) |
rs878853651 |
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) |
| Fabry disease (due to GLA) |
rs104894830 |
NM_000169.2(GLA):c.886A>G (p.Met296Val) |
| Fabry disease (due to GLA) |
rs104894831 |
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) |
| Fabry disease (due to GLA) |
rs104894833 |
NM_000169.2(GLA):c.[196G>C;334C>T] |
| Fabry disease (due to GLA) |
rs104894834 |
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) |
| Fabry disease (due to GLA) |
rs104894835 |
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) |
| Fabry disease (due to GLA) |
rs104894840 |
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) |
| Fabry disease (due to GLA) |
rs104894840 |
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) |
| Fabry disease (due to GLA) |
rs104894841 |
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) |
| Fabry disease (due to GLA) |
rs104894852 |
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) |
| Fabry disease (due to GLA) |
rs1057516429 |
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) |
| Fabry disease (due to GLA) |
rs111422676 |
NM_000169.2(GLA):c.1088G>A (p.Arg363His) |
| Fabry disease (due to GLA) |
rs112341092 |
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) |
| Fabry disease (due to GLA) |
rs1555984869 |
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) |
| Fabry disease (due to GLA) |
rs1555985830 |
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) |
| Fabry disease (due to GLA) |
rs1569303218 |
NM_000169.2(GLA):c.770C>T (p.Ala257Val) |
| Fabry disease (due to GLA) |
rs1569304190 |
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) |
| Fabry disease (due to GLA) |
rs1569304221 |
NM_000169.2(GLA):c.404C>T (p.Ala135Val) |
| Fabry disease (due to GLA) |
rs1569304851 |
NM_000169.2(GLA):c.307G>T (p.Glu103Ter) |
| Fabry disease (due to GLA) |
rs1569304867 |
NM_000169.2(GLA):c.290C>T (p.Ala97Val) |
| Fabry disease (due to GLA) |
rs1569304886 |
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) |
| Fabry disease (due to GLA) |
rs1603038103 |
NM_000169.2(GLA):c.999+1G>T |
| Fabry disease (due to GLA) |
rs28935196 |
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) |
| Fabry disease (due to GLA) |
rs28935197 |
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) |
| Fabry disease (due to GLA) |
rs28935486 |
NM_000169.2(GLA):c.791A>T (p.Asp264Val) |
| Fabry disease (due to GLA) |
rs28935488 |
NM_000169.2(GLA):c.806T>C (p.Val269Ala) |
| Fabry disease (due to GLA) |
rs28935493 |
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) |
| Fabry disease (due to GLA) |
rs28935495 |
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) |
| Fabry disease (due to GLA) |
rs398123198 |
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) |
| Fabry disease (due to GLA) |
rs398123206 |
NM_000169.2(GLA):c.195-1G>T |
| Fabry disease (due to GLA) |
rs398123217 |
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) |
| Fabry disease (due to GLA) |
rs398123228 |
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) |
| Fabry disease (due to GLA) |
rs727503072 |
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) |
| Fabry disease (due to GLA) |
rs727503949 |
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) |
| Fabry disease (due to GLA) |
rs727504348 |
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) |
| Fabry disease (due to GLA) |
rs730880450 |
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) |
| Fabry disease (due to GLA) |
rs730880451 |
NM_000169.2(GLA):c.801G>A (p.Met267Ile) |
| Fabry disease (due to GLA) |
rs730880455 |
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) |
| Fabry disease (due to GLA) |
rs797044669 |
NM_000169.2(GLA):c.369+1G>A |
| Fabry disease (due to GLA) |
rs797044702 |
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) |
| Fabry disease (due to GLA) |
rs797044747 |
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) |
| Fabry disease (due to GLA) |
rs797044748 |
NM_000169.2(GLA):c.801+3A>G |
| Fabry disease (due to GLA) |
rs797044775 |
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) |
| Fabry disease (due to GLA) |
rs797044776 |
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) |
| Fabry disease (due to GLA) |
rs869312134 |
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) |
| Fabry disease (due to GLA) |
rs869312135 |
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) |
| Fabry disease (due to GLA) |
rs869312136 |
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) |
| Fabry disease (due to GLA) |
rs869312137 |
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) |
| Fabry disease (due to GLA) |
rs869312138 |
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) |
| Fabry disease (due to GLA) |
rs869312139 |
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) |
| Fabry disease (due to GLA) |
rs869312140 |
NM_000169.2(GLA):c.256T>C (p.Tyr86His) |
| Fabry disease (due to GLA) |
rs869312145 |
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) |
| Fabry disease (due to GLA) |
rs869312146 |
NM_000169.2(GLA):c.561G>A (p.Met187Ile) |
| Fabry disease (due to GLA) |
rs869312148 |
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) |
| Fabry disease (due to GLA) |
rs869312150 |
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) |
| Fabry disease (due to GLA) |
rs869312151 |
NM_000169.2(GLA):c.657C>G (p.Ile219Met) |
| Fabry disease (due to GLA) |
rs869312153 |
NM_000169.2(GLA):c.761T>C (p.Val254Ala) |
| Fabry disease (due to GLA) |
rs869312154 |
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) |
| Fabry disease (due to GLA) |
rs869312158 |
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) |
| Fabry disease (due to GLA) |
rs869312163 |
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) |
| Fabry disease (due to GLA) |
rs869312165 |
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) |
| Fabry disease (due to GLA) |
rs869312203 |
NM_000169.2(GLA):c.1000-10G>A |
| Fabry disease (due to GLA) |
rs869312227 |
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) |
| Fabry disease (due to GLA) |
rs869312270 |
NM_000169.2(GLA):c.277G>A (p.Asp93Asn) |
| Fabry disease (due to GLA) |
rs869312272 |
NM_000169.2(GLA):c.298A>T (p.Arg100Ter) |
| Fabry disease (due to GLA) |
rs869312316 |
NM_000169.3(GLA):c.50_54del (p.Arg17fs) |
| Fabry disease (due to GLA) |
rs869312324 |
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) |
| Fabry disease (due to GLA) |
rs869312396 |
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) |
| Fabry disease (due to GLA) |
rs869312398 |
NM_000169.3(GLA):c.774_775del (p.Pro259fs) |
| Fabry disease (due to GLA) |
rs869312430 |
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) |
| Fabry disease (due to GLA) |
rs869312432 |
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) |
| Fabry disease (due to GLA) |
rs879254022 |
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) |
| Fabry disease (due to GLA) |
rs886044766 |
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) |
| Fabry disease (due to GLA) |
rs886044843 |
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) |
| Fabry disease (due to GLA) |
rs886044879 |
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894829 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894836 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4198A>C |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894837 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6286G>A |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894838 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+5242A>C |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894848 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894851 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3463G>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs1555987215 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs1569303213 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3352del |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935195 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935492 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs879253955 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516127 |
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516129 |
NM_001195799.2(LDLR):c.190+2361del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057516130 |
NM_000527.4(LDLR):c.905del (p.Cys302fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519653 |
NM_000527.4(LDLR):c.244_250dup (p.Pro84fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519662 |
NM_000527.4(LDLR):c.666_682dup (p.Glu228fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519665 |
NM_000527.4(LDLR):c.940_940+14del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519666 |
NM_000527.4(LDLR):c.940+1dup |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519672 |
NM_000527.4(LDLR):c.1478del (p.Ser493fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519677 |
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1057519682 |
NM_000527.4(LDLR):c.2078dup (p.Phe694fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060499919 |
NM_000527.4(LDLR):c.529T>C (p.Ser177Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060499926 |
NM_000527.4(LDLR):c.1632_1633del (p.Gly546fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1060500988 |
NM_001195803.2(LDLR):c.1606+150del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692190 |
NM_000527.4(LDLR):c.190+5G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692193 |
NM_000527.4(LDLR):c.519_532del (p.Cys173_Asp178delinsTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692200 |
NM_000527.4(LDLR):c.805G>A (p.Gly269Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692202 |
NM_000527.4(LDLR):c.882_883del (p.Lys294fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692207 |
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692209 |
NM_000527.4(LDLR):c.1456del (p.Ser486fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692210 |
NM_000527.4(LDLR):c.1530del (p.Leu511fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692217 |
NM_000527.4(LDLR):c.1744_1745insA (p.Leu582fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1131692224 |
NM_000527.4(LDLR):c.2323_2352del (p.Val775_Pro784del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs11547917 |
NM_000527.5(LDLR):c.917C>A (p.Ser306Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs11547917 |
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs11547917 |
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908025 |
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908027 |
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908029 |
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908031 |
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908032 |
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908033 |
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908033 |
NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908034 |
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908034 |
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908036 |
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908037 |
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908040 |
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908041 |
NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908041 |
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs121908044 |
NM_000527.5(LDLR):c.621C>T (p.Gly207=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs137853966 |
NM_001195800.2(LDLR):c.314-1833del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs137943601 |
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs139400379 |
NM_000527.5(LDLR):c.285C>T (p.Cys95=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1398808477 |
NM_000527.4(LDLR):c.263G>A (p.Arg88Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs140241383 |
NM_000527.5(LDLR):c.858C>T (p.Ser286=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs140807148 |
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1410295777 |
NM_000527.4(LDLR):c.1817C>A (p.Ala606Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555800724 |
NM_000527.4(LDLR):c.29G>A (p.Trp10Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555802245 |
NM_000527.4(LDLR):c.79T>C (p.Cys27Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555802275 |
NM_000527.4(LDLR):c.115T>C (p.Cys39Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555802287 |
NM_000527.4(LDLR):c.132G>A (p.Trp44Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555802710 |
NM_000527.5(LDLR):c.195_196insA (p.Val66fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803409 |
NM_000527.4(LDLR):c.658_663del (p.Pro220_Asp221del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803423 |
NM_000527.5(LDLR):c.674_681dup (p.Glu228fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803426 |
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803428 |
NM_000527.5(LDLR):c.661_673dup (p.Lys225fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803455 |
NM_001195800.2(LDLR):c.314-1815_314-1811del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803644 |
NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803701 |
NM_000527.4(LDLR):c.796_800del (p.Asp266fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803879 |
NM_000527.4(LDLR):c.886T>C (p.Cys296Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555803908 |
NM_000527.4(LDLR):c.920A>G (p.Asp307Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555804443 |
NM_000527.4(LDLR):c.948del (p.Asn316fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555804545 |
NM_000527.4(LDLR):c.1046dup (p.Arg350fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555807388 |
NM_000527.4(LDLR):c.2050del (p.Ala684fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555807390 |
NM_001195803.2(LDLR):c.1606+199_1606+212delinsC |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555808114 |
NM_000527.4(LDLR):c.2253G>A (p.Arg751=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555809471 |
NM_000527.4(LDLR):c.2394_2401del (p.Leu799fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1555809614 |
NM_000527.4(LDLR):c.2530G>A (p.Gly844Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1568610747 |
NM_000527.4(LDLR):c.1851del (p.Val618fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs1600743301 |
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922566 |
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922566 |
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922571 |
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922571 |
NM_000527.5(LDLR):c.362G>C (p.Cys121Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs193922571 |
NM_000527.5(LDLR):c.362G>T (p.Cys121Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs199570811 |
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs199774121 |
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200238879 |
NM_000527.4(LDLR):c.694+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs200660051 |
NM_000527.4(LDLR):c.262A>G (p.Arg88Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs201016593 |
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs201102492 |
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs201967266 |
NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs2569548 |
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs2569548 |
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs267607213 |
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs28942084 |
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs370245937 |
NM_000527.5(LDLR):c.1845+11C>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs370777955 |
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs372845091 |
NM_000527.5(LDLR):c.291C>G (p.Asn97Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs377271627 |
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs377437226 |
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906301 |
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906303 |
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906305 |
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906306 |
NM_000527.4(LDLR):c.664_681del (p.Cys222_Asp227del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs387906306 |
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs551528700 |
NM_000527.4(LDLR):c.2079G>A (p.Lys693=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs559239150 |
NM_000527.4(LDLR):c.2260G>T (p.Gly754Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs587776886 |
NM_000527.5(LDLR):c.2140+86C>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs72658864 |
NM_000527.4(LDLR):c.1733T>C (p.Val578Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730880131 |
NM_000527.4(LDLR):c.1186+1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730880131 |
NM_000527.5(LDLR):c.1186+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882078 |
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882086 |
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882086 |
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882096 |
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs730882106 |
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs746959386 |
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs748554592 |
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs748944640 |
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs749038326 |
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs749038326 |
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs751122998 |
NM_001195798.2(LDLR):c.820del (p.Thr274fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs751228587 |
NM_000527.5(LDLR):c.2060dup (p.Asn688fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs751603969 |
NM_000527.5(LDLR):c.1487G>T (p.Gly496Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs752191968 |
NM_000527.4(LDLR):c.337dup (p.Glu113fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs752935814 |
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs753248521 |
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs753319170 |
NM_000527.4(LDLR):c.644G>A (p.Arg215His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs755799528 |
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs756039188 |
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs756613387 |
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs756613387 |
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs758194385 |
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs763625913 |
NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs763998635 |
NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764042910 |
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs764797225 |
NM_001195799.2(LDLR):c.190+2431del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs767790696 |
NM_000527.5(LDLR):c.2390-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs768563000 |
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs771019366 |
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs773658037 |
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs774615547 |
NM_000527.4(LDLR):c.14_15insCTTTC (p.W6Ffs*201) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs775092314 |
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs775924858 |
NM_000527.5(LDLR):c.1358+1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777321035 |
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777524402 |
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs777640882 |
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs779940524 |
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs794728585 |
NM_000527.4(LDLR):c.178C>T (p.Gln60Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs867272973 |
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869025454 |
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869320648 |
NM_000527.4(LDLR):c.355G>A (p.Gly119Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs869320649 |
NM_000527.4(LDLR):c.660_661insTG (p.Asp221fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989890 |
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989891 |
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989893 |
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989894 |
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989900 |
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989903 |
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989905 |
NM_001195800.2(LDLR):c.314-1826del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989909 |
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989911 |
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989912 |
NM_000527.5(LDLR):c.940+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989915 |
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989916 |
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989918 |
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989920 |
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989921 |
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989925 |
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989930 |
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989932 |
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989934 |
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs875989934 |
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs876657697 |
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854025 |
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854026 |
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs878854028 |
NM_001195800.2(LDLR):c.314-2107del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254358 |
NM_000527.5(LDLR):c.657_661dup (p.Asp221fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254371 |
NM_000527.4(LDLR):c.-139C>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254374 |
NM_000527.4(LDLR):c.-136C>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254383 |
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254393 |
NM_000527.4(LDLR):c.64del (p.Ala22fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254394 |
NM_000527.5(LDLR):c.67+2T>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254398 |
NM_000527.5(LDLR):c.76A>T (p.Arg26Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254401 |
NM_000527.5(LDLR):c.85A>T (p.Arg29Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254402 |
NM_000527.5(LDLR):c.93_99del (p.Glu31fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254404 |
NM_000527.4(LDLR):c.99del (p.Gln33fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254405 |
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254406 |
NM_000527.5(LDLR):c.101G>C (p.Cys34Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254407 |
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254413 |
NM_000527.4(LDLR):c.118del (p.Ile40fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254414 |
NM_000527.4(LDLR):c.132_133dup (p.Val45fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254415 |
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254417 |
NM_000527.4(LDLR):c.148del (p.Ala50fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254418 |
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254419 |
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254423 |
NM_000527.5(LDLR):c.172G>A (p.Glu58Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254424 |
NM_000527.5(LDLR):c.173A>G (p.Glu58Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254425 |
NM_000527.5(LDLR):c.185_186insT (p.Cys63fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254426 |
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254430 |
NM_000527.5(LDLR):c.190+2T>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254437 |
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254442 |
NM_000527.4(LDLR):c.232del (p.Arg78fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254446 |
NM_001195799.2(LDLR):c.190+2372del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254447 |
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254448 |
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254448 |
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254452 |
NM_000527.5(LDLR):c.260G>A (p.Trp87Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254455 |
NM_000527.5(LDLR):c.265T>G (p.Cys89Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254461 |
NM_001195799.2(LDLR):c.190+2429del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254464 |
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254465 |
NM_000527.5(LDLR):c.312T>G (p.Cys104Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254467 |
NM_000527.5(LDLR):c.313+5G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254476 |
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254480 |
NM_000527.5(LDLR):c.338_353del (p.Glu113fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254482 |
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254483 |
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254485 |
NM_000527.5(LDLR):c.347G>T (p.Cys116Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254488 |
NM_001195800.2(LDLR):c.314-2133del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254489 |
NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254490 |
NM_000527.5(LDLR):c.356_362del (p.Gly119fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254493 |
NM_000527.5(LDLR):c.364A>T (p.Ile122Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254499 |
NM_000527.5(LDLR):c.371_372insC (p.Gln125fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254501 |
NM_000527.5(LDLR):c.376T>C (p.Phe126Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254502 |
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254502 |
NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254503 |
NM_000527.5(LDLR):c.380T>A (p.Val127Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254505 |
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254506 |
NM_000527.5(LDLR):c.383G>T (p.Cys128Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254507 |
NM_000527.5(LDLR):c.386A>G (p.Asp129Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254509 |
NM_000527.5(LDLR):c.389C>G (p.Ser130Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254511 |
NM_000527.5(LDLR):c.391G>C (p.Asp131His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254513 |
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254514 |
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254514 |
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254515 |
NM_000527.5(LDLR):c.402C>G (p.Cys134Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254516 |
NM_000527.5(LDLR):c.407A>T (p.Asp136Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254519 |
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254525 |
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254526 |
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254526 |
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254528 |
NM_000527.5(LDLR):c.444T>G (p.Cys148Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254532 |
NM_000527.5(LDLR):c.457T>G (p.Phe153Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254534 |
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254538 |
NM_001195800.2(LDLR):c.314-2014del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254543 |
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254545 |
NM_000527.5(LDLR):c.493T>G (p.Trp165Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254546 |
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254547 |
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254548 |
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254549 |
NM_000527.5(LDLR):c.503A>G (p.Asp168Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254550 |
NM_000527.5(LDLR):c.506A>T (p.Asn169Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254551 |
NM_000527.5(LDLR):c.508_509insC (p.Asp170fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254554 |
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254554 |
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254555 |
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254557 |
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254559 |
NM_000527.4(LDLR):c.518del (p.Cys173fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254560 |
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254563 |
NM_000527.5(LDLR):c.527G>T (p.Gly176Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254564 |
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254566 |
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254568 |
NM_000527.5(LDLR):c.536A>G (p.Glu179Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254570 |
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254572 |
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254574 |
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254580 |
NM_001195800.2(LDLR):c.314-1908del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254581 |
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254582 |
NM_000527.5(LDLR):c.583_589del (p.Ser195fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254589 |
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254590 |
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254593 |
NM_000527.5(LDLR):c.616dup (p.Ser206fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254594 |
NM_000527.4(LDLR):c.617del (p.Ser206fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254595 |
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254596 |
NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254597 |
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254597 |
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254598 |
NM_000527.5(LDLR):c.623_644del (p.Glu208fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254600 |
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254601 |
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254602 |
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254605 |
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254606 |
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254608 |
NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254609 |
NM_000527.4(LDLR):c.646del (p.Cys216fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254612 |
NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254614 |
NM_000527.5(LDLR):c.649_650insT (p.Asp217fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254615 |
NM_000527.5(LDLR):c.651_687del (p.Asp217fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254616 |
NM_000527.5(LDLR):c.655_657del (p.Gly219del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254619 |
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254620 |
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254627 |
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254630 |
NM_000527.5(LDLR):c.671A>C (p.Asp224Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254630 |
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254630 |
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254636 |
NM_000527.5(LDLR):c.677C>G (p.Ser226Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254637 |
NM_001195800.2(LDLR):c.314-1806_314-1804delinsCA |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254652 |
NM_000527.4(LDLR):c.695-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254652 |
NM_000527.5(LDLR):c.695-1G>T |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254658 |
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254662 |
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254665 |
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254667 |
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254669 |
NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254670 |
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254671 |
NM_000527.5(LDLR):c.768C>G (p.Asp256Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254672 |
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254674 |
NM_000527.4(LDLR):c.781del (p.Cys261fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254675 |
NM_000527.5(LDLR):c.790_793del (p.Met264fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254677 |
NM_000527.5(LDLR):c.796_799del (p.Asp266fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254681 |
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254684 |
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254688 |
NM_000527.5(LDLR):c.818-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254692 |
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254696 |
NM_000527.4(LDLR):c.865del (p.Cys289fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254699 |
NM_000527.5(LDLR):c.869T>G (p.Ile290Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254703 |
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254705 |
NM_000527.4(LDLR):c.884del (p.Val295fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254708 |
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254711 |
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254713 |
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254716 |
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254717 |
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254720 |
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254721 |
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254725 |
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254727 |
NM_000527.4(LDLR):c.939_940+3del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254735 |
NM_000527.5(LDLR):c.941-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254740 |
NM_000527.5(LDLR):c.961_962del (p.Asn321fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254742 |
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254749 |
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254750 |
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254751 |
NM_001195798.2(LDLR):c.1008del (p.Gly335_Tyr336insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254752 |
NM_000527.5(LDLR):c.1009_1032del (p.Glu337_Phe344del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254755 |
NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254760 |
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254761 |
NM_000527.4(LDLR):c.1031del (p.Phe344fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254763 |
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254765 |
NM_000527.4(LDLR):c.1045del (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254765 |
NM_000527.5(LDLR):c.1045dup (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254767 |
NM_000527.4(LDLR):c.1046del (p.Gln349fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254769 |
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254769 |
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254773 |
NM_000527.5(LDLR):c.1061-2A>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254774 |
NM_000527.5(LDLR):c.1061-1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254777 |
NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254778 |
NM_000527.4(LDLR):c.1067del (p.Asp356fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254780 |
NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254783 |
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254784 |
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254786 |
NM_001195798.2(LDLR):c.1085del (p.Asp362fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254792 |
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254793 |
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254796 |
NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254802 |
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254804 |
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254805 |
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254807 |
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254809 |
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254814 |
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254816 |
NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254827 |
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254832 |
NM_000527.4(LDLR):c.1208del (p.Phe403fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254833 |
NM_000527.4(LDLR):c.1209del (p.Phe403fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254835 |
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254840 |
NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254841 |
NM_000527.4(LDLR):c.1233del (p.Lys411_Met412insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254842 |
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254844 |
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254847 |
NM_000527.4(LDLR):c.1255T>G (p.Tyr419Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254848 |
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254849 |
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254849 |
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254855 |
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254864 |
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254869 |
NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254870 |
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254872 |
NM_000527.4(LDLR):c.1343del (p.Gln448fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254873 |
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254882 |
NM_000527.4(LDLR):c.1365del (p.Gln455fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254897 |
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254898 |
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254905 |
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254906 |
NM_000527.5(LDLR):c.1454A>G (p.His485Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254914 |
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254917 |
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254918 |
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254924 |
NM_000527.5(LDLR):c.1502dup (p.Asp502fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254926 |
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254929 |
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254931 |
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254939 |
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254941 |
NM_000527.5(LDLR):c.1567_1575del (p.Val523_Asp525del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254943 |
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254949 |
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254951 |
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254952 |
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254954 |
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254955 |
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254962 |
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254966 |
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254971 |
NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254972 |
NM_000527.4(LDLR):c.1655del (p.Ile552fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254978 |
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254979 |
NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254981 |
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254982 |
NM_000527.4(LDLR):c.1683del (p.Gln561fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254983 |
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254986 |
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254987 |
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254988 |
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254991 |
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254992 |
NM_000527.4(LDLR):c.1705+1del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879254998 |
NM_000527.4(LDLR):c.1718del (p.Gly573fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255004 |
NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255006 |
NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255007 |
NM_000527.5(LDLR):c.1748A>G (p.His583Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255013 |
NM_000527.4(LDLR):c.1756del (p.Ser586fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255015 |
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255016 |
NM_000527.4(LDLR):c.1766del (p.Asp589fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255019 |
NM_000527.4(LDLR):c.1779del (p.Asn594fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255021 |
NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255022 |
NM_000527.4(LDLR):c.1789del (p.Thr597fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255025 |
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255026 |
NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255029 |
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255031 |
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255033 |
NM_000527.5(LDLR):c.1820A>G (p.His607Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255041 |
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255041 |
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255046 |
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255050 |
NM_000527.5(LDLR):c.1846-2A>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255054 |
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255054 |
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255055 |
NM_000527.5(LDLR):c.1858T>C (p.Trp620Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255058 |
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255059 |
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255061 |
NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255063 |
NM_000527.4(LDLR):c.1872del (p.Asn625fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255065 |
NM_000527.4(LDLR):c.1876del (p.Glu626fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255066 |
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255067 |
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255069 |
NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255071 |
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255073 |
NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255077 |
NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255080 |
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255092 |
NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255095 |
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255097 |
NM_000527.4(LDLR):c.1987+1del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255102 |
NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255107 |
NM_001195803.2(LDLR):c.1606+149del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255108 |
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255112 |
NM_001195803.2(LDLR):c.1606+164del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255114 |
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255117 |
NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255119 |
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255121 |
NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255124 |
NM_001195803.2(LDLR):c.1606+204del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255125 |
NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255126 |
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255127 |
NM_000527.4(LDLR):c.2060del (p.Ile687fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255130 |
NM_000527.4(LDLR):c.2068del (p.His690fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255131 |
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255132 |
NM_000527.5(LDLR):c.2080T>G (p.Phe694Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255134 |
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255135 |
NM_001195803.2(LDLR):c.1606+241del |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255143 |
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255144 |
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255146 |
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255147 |
NM_000527.5(LDLR):c.2140+2T>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255158 |
NM_000527.5(LDLR):c.2186dup (p.Val731fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255159 |
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255169 |
NM_000527.4(LDLR):c.2266del (p.Thr756fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255175 |
NM_000527.5(LDLR):c.2311+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255175 |
NM_000527.5(LDLR):c.2311+1G>C |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255176 |
NM_000527.5(LDLR):c.2311+2T>G |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255177 |
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255194 |
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255196 |
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255204 |
NM_000527.4(LDLR):c.2413G>C (p.Gly805Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255204 |
NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255210 |
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255212 |
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255213 |
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255215 |
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255217 |
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255218 |
NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255224 |
NM_000527.5(LDLR):c.2547+1G>A |
| Familial hypercholesterolemia 1 (due to LDLR) |
rs879255227 |
NM_000527.5(LDLR):c.2548-2A>G |
| Familial hypercholesterolemia 1 (due to STAP1) |
rs793888522 |
NM_012108.4(STAP1):c.139A>G (p.Thr47Ala) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs1399892057 |
NM_000384.3(APOB):c.1830-1G>A |
| Familial hypercholesterolemia 2 (due to APOB) |
rs144467873 |
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs146538280 |
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs1553384177 |
NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs281865425 |
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs5742904 |
NM_000384.3(APOB):c.10580G>T (p.Arg3527Leu) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs5742904 |
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs730880052 |
NM_000384.3(APOB):c.10187C>A (p.Ala3396Asp) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs756209187 |
NM_000384.3(APOB):c.10238del (p.Thr3413fs) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs766243954 |
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) |
| Familial hypercholesterolemia 2 (due to APOB) |
rs878853970 |
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) |
| Familial hypercholesterolemia 3 (due to PCSK9) |
rs28942111 |
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) |
| Familial hypercholesterolemia 3 (due to PCSK9) |
rs28942112 |
NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu) |
| Familial hypercholesterolemia 3 (due to PCSK9) |
rs886039839 |
NM_174936.3(PCSK9):c.185C>A (p.Ala62Asp) |
| Familial hypercholesterolemia 4 (due to LDLRAP1) |
rs750383461 |
NM_015627.3(LDLRAP1):c.431dup (p.His144fs) |
| Familial hypercholesterolemia 4 (due to LDLRAP1) |
rs755104973 |
NM_015627.2(LDLRAP1):c.89-1G>C |
| Familial hypercholesterolemia 4 (due to LDLRAP1) |
rs763778803 |
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs) |
| Familial hypertrophic cardiomyopathy 1 (due to LMNA) |
rs1057515421 |
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) |
| Familial hypertrophic cardiomyopathy 1 (due to MYBPC3) |
rs727504334 |
NM_000256.3(MYBPC3):c.2149-1G>A |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913624 |
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913624 |
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913627 |
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913629 |
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913631 |
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913636 |
NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913639 |
NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs121913650 |
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs138049878 |
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs193922390 |
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs267606908 |
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs3218713 |
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs371898076 |
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516209 |
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516260 |
NM_000257.4(MYH7):c.611G>A (p.Arg204His) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516264 |
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516265 |
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs397516269 |
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs727504238 |
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225101 |
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225102 |
NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr) |
| Familial hypertrophic cardiomyopathy 1 (due to MYH7) |
rs863225103 |
NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly) |
| Familial hypertrophic cardiomyopathy 1 (due to RAF1) |
rs80338797 |
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2) |
rs111373423 |
NM_000432.4(MYL2):c.3+2T>C |
| Familial hypertrophic cardiomyopathy 10 (due to MYL2) |
rs121913658 |
NM_000432.3(MYL2):c.283C>G (p.Pro95Ala) |
| Familial hypertrophic cardiomyopathy 17 (due to JPH2) |
rs754529157 |
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter) |
| Familial hypertrophic cardiomyopathy 18 (due to PLN) |
rs111033560 |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs121964855 |
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs397516455 |
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs727503513 |
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) |
| Familial hypertrophic cardiomyopathy 2 (due to TNNT2) |
rs863225120 |
NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) |
| Familial hypertrophic cardiomyopathy 20 (due to NEXN) |
rs387907079 |
NM_144573.3(NEXN):c.391C>G (p.Gln131Glu) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs104894503 |
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs199476315 |
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) |
| Familial hypertrophic cardiomyopathy 3 (due to TPM1) |
rs199476317 |
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs111683277 |
NM_000256.3(MYBPC3):c.3190+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs36212066 |
NM_000256.3(MYBPC3):c.3628-41_3628-17del |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs376395543 |
NM_000256.3(MYBPC3):c.26-2A>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs387907267 |
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515926 |
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515937 |
NM_000256.3(MYBPC3):c.1928-2A>G |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515990 |
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397515992 |
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516005 |
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516020 |
NM_000256.3(MYBPC3):c.3490+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs397516083 |
NM_000256.3(MYBPC3):c.927-9G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs587776699 |
NM_000256.3(MYBPC3):c.1224-19G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs727504366 |
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs730880341 |
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs730880621 |
NM_000256.3(MYBPC3):c.654+1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863224483 |
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863224899 |
NM_000256.3(MYBPC3):c.2414-1G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225106 |
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225107 |
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs863225112 |
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs864622197 |
NM_000256.3(MYBPC3):c.906-36G>A |
| Familial hypertrophic cardiomyopathy 4 (due to MYBPC3) |
rs886041031 |
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs121908987 |
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs267606978 |
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) |
| Familial hypertrophic cardiomyopathy 6 (due to PRKAG2) |
rs587776643 |
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs104894728 |
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs267607127 |
NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs368861241 |
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516349 |
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516353 |
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs397516357 |
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) |
| Familial hypertrophic cardiomyopathy 7 (due to TNNI3) |
rs727504242 |
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) |
| Familial hypertrophic cardiomyopathy 8 (due to MYL3) |
rs104893748 |
NM_000258.2(MYL3):c.445A>G (p.Met149Val) |
| Familial hypertrophic cardiomyopathy 9 (due to TTN) |
rs1213930919 |
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) |
| Loeys-Dietz syndrome (due to SMAD3) |
rs587782977 |
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs730880223 |
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs760079636 |
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) |
| Loeys-Dietz syndrome (due to TGFBR1) |
rs886038919 |
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893810 |
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs104893815 |
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922660 |
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922664 |
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs193922665 |
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs397516840 |
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs587782979 |
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs727503472 |
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs727503476 |
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs863223857 |
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) |
| Loeys-Dietz syndrome (due to TGFBR2) |
rs869025537 |
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918710 |
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918711 |
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918712 |
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) |
| Loeys-Dietz syndrome 1 (due to TGFBR1) |
rs121918713 |
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) |
| Loeys-Dietz syndrome 1 (due to TGFBR2) |
rs886039551 |
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) |
| Long QT syndrome (due to AKAP9) |
rs796052200 |
NM_147185.3(AKAP9):c.5341T>A (p.Ser1781Thr) |
| Long QT syndrome (due to KCNE1) |
rs1805128 |
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) |
| Long QT syndrome (due to KCNE1) |
rs74315445 |
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) |
| Long QT syndrome (due to KCNH2) |
rs121912504 |
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) |
| Long QT syndrome (due to KCNH2) |
rs121912508 |
NM_172056.2(KCNH2):c.1744C>T (p.Arg582Cys) |
| Long QT syndrome (due to KCNH2) |
rs121912510 |
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) |
| Long QT syndrome (due to KCNH2) |
rs121912512 |
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) |
| Long QT syndrome (due to KCNH2) |
rs1554424688 |
NM_000238.3(KCNH2):c.2626G>T (p.Glu876Ter) |
| Long QT syndrome (due to KCNH2) |
rs1554425149 |
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) |
| Long QT syndrome (due to KCNH2) |
rs1554425284 |
NM_172056.2(KCNH2):c.2218dup (p.Cys740fs) |
| Long QT syndrome (due to KCNH2) |
rs1554425486 |
NM_172056.2(KCNH2):c.2062C>T (p.Gln688Ter) |
| Long QT syndrome (due to KCNH2) |
rs1554428173 |
NM_172056.2(KCNH2):c.461G>A (p.Trp154Ter) |
| Long QT syndrome (due to KCNH2) |
rs1563161538 |
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) |
| Long QT syndrome (due to KCNH2) |
rs1584856544 |
NM_000238.4(KCNH2):c.1379del (p.Asp460fs) |
| Long QT syndrome (due to KCNH2) |
rs199472830 |
NM_172056.2(KCNH2):c.87C>A (p.Phe29Leu) |
| Long QT syndrome (due to KCNH2) |
rs199472836 |
NM_172056.2(KCNH2):c.128A>G (p.Tyr43Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472884 |
NM_172056.2(KCNH2):c.916G>T (p.Gly306Trp) |
| Long QT syndrome (due to KCNH2) |
rs199472931 |
NM_172056.2(KCNH2):c.1781G>A (p.Gly594Asp) |
| Long QT syndrome (due to KCNH2) |
rs199472934 |
NM_172056.2(KCNH2):c.1790A>G (p.Tyr597Cys) |
| Long QT syndrome (due to KCNH2) |
rs199472957 |
NM_172056.2(KCNH2):c.1886A>C (p.Asn629Thr) |
| Long QT syndrome (due to KCNH2) |
rs199472957 |
NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) |
| Long QT syndrome (due to KCNH2) |
rs199472971 |
NM_172056.2(KCNH2):c.1922C>T (p.Ser641Phe) |
| Long QT syndrome (due to KCNH2) |
rs199472983 |
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) |
| Long QT syndrome (due to KCNH2) |
rs199472990 |
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) |
| Long QT syndrome (due to KCNH2) |
rs199472997 |
NM_172056.2(KCNH2):c.2362G>A (p.Glu788Lys) |
| Long QT syndrome (due to KCNH2) |
rs199473413 |
NM_172056.2(KCNH2):c.172G>A (p.Glu58Lys) |
| Long QT syndrome (due to KCNH2) |
rs199473487 |
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) |
| Long QT syndrome (due to KCNH2) |
rs199473522 |
NM_172056.2(KCNH2):c.1810G>A (p.Gly604Ser) |
| Long QT syndrome (due to KCNH2) |
rs199473524 |
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) |
| Long QT syndrome (due to KCNH2) |
rs730880116 |
NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter) |
| Long QT syndrome (due to KCNH2) |
rs770047651 |
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) |
| Long QT syndrome (due to KCNH2) |
rs773724817 |
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728364 |
NM_172056.2(KCNH2):c.1096C>T (p.Arg366Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728366 |
NM_172056.2(KCNH2):c.1193G>A (p.Trp398Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728380 |
NM_172056.2(KCNH2):c.1945+6T>C |
| Long QT syndrome (due to KCNH2) |
rs794728403 |
NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) |
| Long QT syndrome (due to KCNH2) |
rs794728478 |
NM_172056.2(KCNH2):c.1129-1G>A |
| Long QT syndrome (due to KCNH2) |
rs794728506 |
NM_172056.2(KCNH2):c.100del (p.Ala34fs) |
| Long QT syndrome (due to KCNH2) |
rs794728508 |
NM_172056.2(KCNH2):c.154del (p.Cys52fs) |
| Long QT syndrome (due to KCNH2) |
rs796052196 |
NM_172056.2(KCNH2):c.307+2T>A |
| Long QT syndrome (due to KCNH2) |
rs863224478 |
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) |
| Long QT syndrome (due to KCNH2) |
rs876661348 |
NM_172056.2(KCNH2):c.1805T>C (p.Leu602Pro) |
| Long QT syndrome (due to KCNQ1) |
rs1060500629 |
NM_181798.1(KCNQ1):c.794G>A (p.Trp265Ter) |
| Long QT syndrome (due to KCNQ1) |
rs120074189 |
NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) |
| Long QT syndrome (due to KCNQ1) |
rs120074190 |
NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) |
| Long QT syndrome (due to KCNQ1) |
rs120074194 |
NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) |
| Long QT syndrome (due to KCNQ1) |
rs139042529 |
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) |
| Long QT syndrome (due to KCNQ1) |
rs1590081328 |
NM_000218.3(KCNQ1):c.1591-1G>A |
| Long QT syndrome (due to KCNQ1) |
rs199472696 |
NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) |
| Long QT syndrome (due to KCNQ1) |
rs199472705 |
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) |
| Long QT syndrome (due to KCNQ1) |
rs199472754 |
NM_181798.1(KCNQ1):c.583A>G (p.Thr195Ala) |
| Long QT syndrome (due to KCNQ1) |
rs199472760 |
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) |
| Long QT syndrome (due to KCNQ1) |
rs199472765 |
NM_181798.1(KCNQ1):c.665C>A (p.Ser222Ter) |
| Long QT syndrome (due to KCNQ1) |
rs199472765 |
NM_181798.1(KCNQ1):c.665C>G (p.Ser222Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199472768 |
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) |
| Long QT syndrome (due to KCNQ1) |
rs199472790 |
NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly) |
| Long QT syndrome (due to KCNQ1) |
rs199472795 |
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) |
| Long QT syndrome (due to KCNQ1) |
rs199472801 |
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) |
| Long QT syndrome (due to KCNQ1) |
rs199473394 |
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) |
| Long QT syndrome (due to KCNQ1) |
rs199473399 |
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) |
| Long QT syndrome (due to KCNQ1) |
rs199473451 |
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) |
| Long QT syndrome (due to KCNQ1) |
rs199473456 |
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) |
| Long QT syndrome (due to KCNQ1) |
rs199473479 |
NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) |
| Long QT syndrome (due to KCNQ1) |
rs397508070 |
NM_181798.1(KCNQ1):c.651+1G>A |
| Long QT syndrome (due to KCNQ1) |
rs397508075 |
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508091 |
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508097 |
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) |
| Long QT syndrome (due to KCNQ1) |
rs397508103 |
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) |
| Long QT syndrome (due to KCNQ1) |
rs397508122 |
NM_181798.1(KCNQ1):c.302+5G>A |
| Long QT syndrome (due to KCNQ1) |
rs397508130 |
NM_181798.1(KCNQ1):c.540+1G>T |
| Long QT syndrome (due to KCNQ1) |
rs775537394 |
NM_181798.1(KCNQ1):c.1013-1G>T |
| Long QT syndrome (due to KCNQ1) |
rs794728524 |
NM_181798.1(KCNQ1):c.668G>T (p.Gly223Val) |
| Long QT syndrome (due to KCNQ1) |
rs794728527 |
NM_181798.1(KCNQ1):c.1002T>A (p.Tyr334Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728531 |
NM_181798.1(KCNQ1):c.1304+1G>A |
| Long QT syndrome (due to KCNQ1) |
rs794728537 |
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) |
| Long QT syndrome (due to KCNQ1) |
rs794728540 |
NM_181798.1(KCNQ1):c.1420C>T (p.Gln474Ter) |
| Long QT syndrome (due to KCNQ1) |
rs796052166 |
NM_181798.1(KCNQ1):c.302+2T>G |
| Long QT syndrome (due to KCNQ1) |
rs878854348 |
NM_181798.1(KCNQ1):c.1352-1G>C |
| Long QT syndrome (due to KCNQ1) |
rs878854350 |
NM_181798.1(KCNQ1):c.1305-2A>G |
| Long QT syndrome (due to TECRL) |
rs773204795 |
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) |
| Marfan syndrome (due to FBN1) |
rs1057518881 |
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) |
| Marfan syndrome (due to FBN1) |
rs1057519320 |
NM_000138.4(FBN1):c.6004C>T (p.Pro2002Ser) |
| Marfan syndrome (due to FBN1) |
rs1057521100 |
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) |
| Marfan syndrome (due to FBN1) |
rs1060501021 |
NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg) |
| Marfan syndrome (due to FBN1) |
rs1060501044 |
NM_000138.4(FBN1):c.6209G>T (p.Cys2070Phe) |
| Marfan syndrome (due to FBN1) |
rs1060501077 |
NM_000138.4(FBN1):c.7466G>A (p.Cys2489Tyr) |
| Marfan syndrome (due to FBN1) |
rs1060501086 |
NM_000138.4(FBN1):c.1982G>A (p.Cys661Tyr) |
| Marfan syndrome (due to FBN1) |
rs1060501092 |
NM_000138.4(FBN1):c.2293+1G>A |
| Marfan syndrome (due to FBN1) |
rs1060501093 |
NM_000138.4(FBN1):c.7331A>G (p.Asp2444Gly) |
| Marfan syndrome (due to FBN1) |
rs1060501095 |
NM_000138.4(FBN1):c.6159C>A (p.Cys2053Ter) |
| Marfan syndrome (due to FBN1) |
rs1064793637 |
NM_000138.4(FBN1):c.917del (p.Asn306fs) |
| Marfan syndrome (due to FBN1) |
rs1085307468 |
NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr) |
| Marfan syndrome (due to FBN1) |
rs1085307531 |
NM_000138.4(FBN1):c.5993G>A (p.Cys1998Tyr) |
| Marfan syndrome (due to FBN1) |
rs111401431 |
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) |
| Marfan syndrome (due to FBN1) |
rs111588631 |
NM_000138.4(FBN1):c.6952T>C (p.Cys2318Arg) |
| Marfan syndrome (due to FBN1) |
rs112196241 |
NM_000138.4(FBN1):c.7982A>G (p.Tyr2661Cys) |
| Marfan syndrome (due to FBN1) |
rs112464743 |
NM_000138.4(FBN1):c.6452G>A (p.Cys2151Tyr) |
| Marfan syndrome (due to FBN1) |
rs112550005 |
NM_000138.4(FBN1):c.7240C>T (p.Arg2414Ter) |
| Marfan syndrome (due to FBN1) |
rs112645512 |
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) |
| Marfan syndrome (due to FBN1) |
rs112930491 |
NM_000138.4(FBN1):c.5014T>G (p.Cys1672Gly) |
| Marfan syndrome (due to FBN1) |
rs113001196 |
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) |
| Marfan syndrome (due to FBN1) |
rs113082854 |
NM_000138.4(FBN1):c.4460-1G>C |
| Marfan syndrome (due to FBN1) |
rs113086760 |
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) |
| Marfan syndrome (due to FBN1) |
rs1131691467 |
NM_000138.4(FBN1):c.6332G>A (p.Cys2111Tyr) |
| Marfan syndrome (due to FBN1) |
rs1131691804 |
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) |
| Marfan syndrome (due to FBN1) |
rs1131691806 |
NM_000138.4(FBN1):c.3412T>C (p.Cys1138Arg) |
| Marfan syndrome (due to FBN1) |
rs1131692050 |
NM_000138.4(FBN1):c.3192del (p.Glu1065fs) |
| Marfan syndrome (due to FBN1) |
rs113249837 |
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) |
| Marfan syndrome (due to FBN1) |
rs113422242 |
NM_000138.4(FBN1):c.1693C>T (p.Arg565Ter) |
| Marfan syndrome (due to FBN1) |
rs113543334 |
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) |
| Marfan syndrome (due to FBN1) |
rs113812345 |
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) |
| Marfan syndrome (due to FBN1) |
rs113871094 |
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) |
| Marfan syndrome (due to FBN1) |
rs1303389437 |
NM_000138.4(FBN1):c.188A>G (p.Tyr63Cys) |
| Marfan syndrome (due to FBN1) |
rs137854458 |
NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser) |
| Marfan syndrome (due to FBN1) |
rs137854459 |
NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg) |
| Marfan syndrome (due to FBN1) |
rs137854461 |
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) |
| Marfan syndrome (due to FBN1) |
rs137854462 |
NM_000138.4(FBN1):c.1643A>T (p.Asn548Ile) |
| Marfan syndrome (due to FBN1) |
rs137854463 |
NM_000138.4(FBN1):c.2168A>C (p.Asp723Ala) |
| Marfan syndrome (due to FBN1) |
rs137854470 |
NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854471 |
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854476 |
NM_000138.4(FBN1):c.1585C>T (p.Arg529Ter) |
| Marfan syndrome (due to FBN1) |
rs137854479 |
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) |
| Marfan syndrome (due to FBN1) |
rs137854480 |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) |
| Marfan syndrome (due to FBN1) |
rs137854481 |
NM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854482 |
NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr) |
| Marfan syndrome (due to FBN1) |
rs137854483 |
NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr) |
| Marfan syndrome (due to FBN1) |
rs140592 |
NM_000138.4(FBN1):c.2986T>C (p.Cys996Arg) |
| Marfan syndrome (due to FBN1) |
rs140597 |
NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) |
| Marfan syndrome (due to FBN1) |
rs1445085747 |
NM_000138.4(FBN1):c.1837+5G>A |
| Marfan syndrome (due to FBN1) |
rs1555393844 |
NM_000138.4(FBN1):c.7977C>A (p.Cys2659Ter) |
| Marfan syndrome (due to FBN1) |
rs1555393858 |
NM_000138.4(FBN1):c.7954T>C (p.Cys2652Arg) |
| Marfan syndrome (due to FBN1) |
rs1555394189 |
NM_000138.4(FBN1):c.7699+1G>A |
| Marfan syndrome (due to FBN1) |
rs1555394238 |
NM_000138.4(FBN1):c.7532G>A (p.Cys2511Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555394397 |
NM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp) |
| Marfan syndrome (due to FBN1) |
rs1555394398 |
NM_000138.4(FBN1):c.7409G>A (p.Cys2470Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555394409 |
NM_000138.4(FBN1):c.7364G>A (p.Cys2455Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555394435 |
NM_000138.4(FBN1):c.7324T>A (p.Cys2442Ser) |
| Marfan syndrome (due to FBN1) |
rs1555394436 |
NM_000138.4(FBN1):c.7323del (p.Cys2442fs) |
| Marfan syndrome (due to FBN1) |
rs1555394437 |
NM_000138.4(FBN1):c.7298A>G (p.Tyr2433Cys) |
| Marfan syndrome (due to FBN1) |
rs1555394567 |
NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter) |
| Marfan syndrome (due to FBN1) |
rs1555394581 |
NM_000138.4(FBN1):c.7015T>C (p.Cys2339Arg) |
| Marfan syndrome (due to FBN1) |
rs1555394626 |
NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555394647 |
NM_000138.4(FBN1):c.6881A>C (p.Glu2294Ala) |
| Marfan syndrome (due to FBN1) |
rs1555395187 |
NM_000138.4(FBN1):c.6496+2T>G |
| Marfan syndrome (due to FBN1) |
rs1555395229 |
NM_000138.4(FBN1):c.6325C>T (p.Gln2109Ter) |
| Marfan syndrome (due to FBN1) |
rs1555395263 |
NM_000138.4(FBN1):c.6236C>G (p.Ser2079Cys) |
| Marfan syndrome (due to FBN1) |
rs1555395267 |
NM_000138.4(FBN1):c.6181T>C (p.Cys2061Arg) |
| Marfan syndrome (due to FBN1) |
rs1555395659 |
NM_000138.4(FBN1):c.5950T>C (p.Cys1984Arg) |
| Marfan syndrome (due to FBN1) |
rs1555395663 |
NM_000138.4(FBN1):c.5930G>A (p.Cys1977Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555395766 |
NM_000138.4(FBN1):c.5809G>T (p.Gly1937Ter) |
| Marfan syndrome (due to FBN1) |
rs1555395767 |
NM_000138.4(FBN1):c.5800T>A (p.Cys1934Ser) |
| Marfan syndrome (due to FBN1) |
rs1555395984 |
NM_000138.4(FBN1):c.5593T>C (p.Cys1865Arg) |
| Marfan syndrome (due to FBN1) |
rs1555396186 |
NM_000138.4(FBN1):c.5539T>C (p.Cys1847Arg) |
| Marfan syndrome (due to FBN1) |
rs1555396213 |
NM_000138.4(FBN1):c.5435G>A (p.Cys1812Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555396418 |
NM_000138.4(FBN1):c.5417G>T (p.Cys1806Phe) |
| Marfan syndrome (due to FBN1) |
rs1555396427 |
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) |
| Marfan syndrome (due to FBN1) |
rs1555396429 |
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555396769 |
NM_000138.4(FBN1):c.5156G>A (p.Cys1719Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555396838 |
NM_000138.4(FBN1):c.5061C>A (p.Cys1687Ter) |
| Marfan syndrome (due to FBN1) |
rs1555397008 |
NM_000138.4(FBN1):c.4817-2A>G |
| Marfan syndrome (due to FBN1) |
rs1555397193 |
NM_000138.4(FBN1):c.4582+2T>G |
| Marfan syndrome (due to FBN1) |
rs1555397214 |
NM_000138.4(FBN1):c.4474del (p.Leu1492fs) |
| Marfan syndrome (due to FBN1) |
rs1555397393 |
NM_000138.4(FBN1):c.4459+2T>G |
| Marfan syndrome (due to FBN1) |
rs1555397540 |
NM_000138.4(FBN1):c.4292G>A (p.Cys1431Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555397545 |
NM_000138.4(FBN1):c.4286G>A (p.Cys1429Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555397546 |
NM_000138.4(FBN1):c.4285T>A (p.Cys1429Ser) |
| Marfan syndrome (due to FBN1) |
rs1555397704 |
NM_000138.4(FBN1):c.4082G>A (p.Cys1361Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555397719 |
NM_000138.4(FBN1):c.4044T>G (p.Cys1348Trp) |
| Marfan syndrome (due to FBN1) |
rs1555397720 |
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555397744 |
NM_000138.4(FBN1):c.3965A>G (p.Asp1322Gly) |
| Marfan syndrome (due to FBN1) |
rs1555398148 |
NM_000138.4(FBN1):c.3932A>G (p.Tyr1311Cys) |
| Marfan syndrome (due to FBN1) |
rs1555398173 |
NM_000138.4(FBN1):c.3851G>A (p.Cys1284Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555398279 |
NM_000138.4(FBN1):c.3794G>C (p.Cys1265Ser) |
| Marfan syndrome (due to FBN1) |
rs1555398283 |
NM_000138.4(FBN1):c.3778G>T (p.Glu1260Ter) |
| Marfan syndrome (due to FBN1) |
rs1555398380 |
NM_000138.4(FBN1):c.3706T>C (p.Cys1236Arg) |
| Marfan syndrome (due to FBN1) |
rs1555398382 |
NM_000138.4(FBN1):c.3703T>C (p.Ser1235Pro) |
| Marfan syndrome (due to FBN1) |
rs1555398394 |
NM_000138.4(FBN1):c.3656A>G (p.Tyr1219Cys) |
| Marfan syndrome (due to FBN1) |
rs1555398413 |
NM_000138.4(FBN1):c.3602G>A (p.Cys1201Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555398515 |
NM_000138.4(FBN1):c.3533A>G (p.Tyr1178Cys) |
| Marfan syndrome (due to FBN1) |
rs1555398625 |
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) |
| Marfan syndrome (due to FBN1) |
rs1555398633 |
NM_000138.4(FBN1):c.3268C>T (p.Pro1090Ser) |
| Marfan syndrome (due to FBN1) |
rs1555398637 |
NM_000138.4(FBN1):c.3256T>C (p.Cys1086Arg) |
| Marfan syndrome (due to FBN1) |
rs1555398648 |
NM_000138.4(FBN1):c.3209A>G (p.Asp1070Gly) |
| Marfan syndrome (due to FBN1) |
rs1555398673 |
NM_000138.4(FBN1):c.3143T>C (p.Ile1048Thr) |
| Marfan syndrome (due to FBN1) |
rs1555398677 |
NM_000138.4(FBN1):c.3132C>A (p.Cys1044Ter) |
| Marfan syndrome (due to FBN1) |
rs1555398793 |
NM_000138.4(FBN1):c.3022T>C (p.Cys1008Arg) |
| Marfan syndrome (due to FBN1) |
rs1555398835 |
NM_000138.5(FBN1):c.2860C>T |
| Marfan syndrome (due to FBN1) |
rs1555398989 |
NM_000138.4(FBN1):c.2777G>A (p.Cys926Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399101 |
NM_000138.4(FBN1):c.2678-2A>G |
| Marfan syndrome (due to FBN1) |
rs1555399158 |
NM_000138.4(FBN1):c.2626T>C (p.Cys876Arg) |
| Marfan syndrome (due to FBN1) |
rs1555399160 |
NM_000138.4(FBN1):c.2586dup (p.Glu863Ter) |
| Marfan syndrome (due to FBN1) |
rs1555399164 |
NM_000138.4(FBN1):c.2562G>A (p.Trp854Ter) |
| Marfan syndrome (due to FBN1) |
rs1555399206 |
NM_000138.4(FBN1):c.2446T>C (p.Cys816Arg) |
| Marfan syndrome (due to FBN1) |
rs1555399210 |
NM_000138.4(FBN1):c.2432G>A (p.Cys811Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399271 |
NM_000138.4(FBN1):c.2342G>A (p.Cys781Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399273 |
NM_000138.4(FBN1):c.2327G>A (p.Cys776Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399281 |
NM_000138.4(FBN1):c.2298_2301del (p.Ile766fs) |
| Marfan syndrome (due to FBN1) |
rs1555399372 |
NM_000138.4(FBN1):c.2237A>G (p.Tyr746Cys) |
| Marfan syndrome (due to FBN1) |
rs1555399378 |
NM_000138.4(FBN1):c.2216G>A (p.Cys739Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399381 |
NM_000138.4(FBN1):c.2180G>A (p.Cys727Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399484 |
NM_000138.4(FBN1):c.2114-1G>C |
| Marfan syndrome (due to FBN1) |
rs1555399816 |
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) |
| Marfan syndrome (due to FBN1) |
rs1555399840 |
NM_000138.4(FBN1):c.1838-1G>A |
| Marfan syndrome (due to FBN1) |
rs1555399944 |
NM_000138.4(FBN1):c.1831T>C (p.Cys611Arg) |
| Marfan syndrome (due to FBN1) |
rs1555399954 |
NM_000138.4(FBN1):c.1794C>G (p.Cys598Trp) |
| Marfan syndrome (due to FBN1) |
rs1555399959 |
NM_000138.4(FBN1):c.1775G>A (p.Gly592Asp) |
| Marfan syndrome (due to FBN1) |
rs1555399962 |
NM_000138.4(FBN1):c.1766A>G (p.Asn589Ser) |
| Marfan syndrome (due to FBN1) |
rs1555399963 |
NM_000138.4(FBN1):c.1760G>A (p.Cys587Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555399974 |
NM_000138.4(FBN1):c.1727G>A (p.Cys576Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555400064 |
NM_000138.4(FBN1):c.1622G>T (p.Cys541Phe) |
| Marfan syndrome (due to FBN1) |
rs1555400373 |
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) |
| Marfan syndrome (due to FBN1) |
rs1555400387 |
NM_000138.4(FBN1):c.1360C>T (p.Gln454Ter) |
| Marfan syndrome (due to FBN1) |
rs1555400406 |
NM_000138.4(FBN1):c.1318G>T (p.Glu440Ter) |
| Marfan syndrome (due to FBN1) |
rs1555400603 |
NM_000138.4(FBN1):c.1076G>A (p.Cys359Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555400609 |
NM_000138.4(FBN1):c.1066del (p.Met356fs) |
| Marfan syndrome (due to FBN1) |
rs1555400616 |
NM_000138.4(FBN1):c.989-1G>C |
| Marfan syndrome (due to FBN1) |
rs1555401697 |
NM_000138.4(FBN1):c.577del (p.Gln193fs) |
| Marfan syndrome (due to FBN1) |
rs1555404810 |
NM_000138.4(FBN1):c.479G>A (p.Cys160Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555405043 |
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) |
| Marfan syndrome (due to FBN1) |
rs1555405044 |
NM_000138.4(FBN1):c.400T>C (p.Cys134Arg) |
| Marfan syndrome (due to FBN1) |
rs1555405056 |
NM_000138.4(FBN1):c.347-2A>G |
| Marfan syndrome (due to FBN1) |
rs1555405537 |
NM_000138.4(FBN1):c.248-3C>G |
| Marfan syndrome (due to FBN1) |
rs1566889188 |
NM_000138.4(FBN1):c.8056T>C (p.Cys2686Arg) |
| Marfan syndrome (due to FBN1) |
rs1566891654 |
NM_000138.4(FBN1):c.7664G>T (p.Gly2555Val) |
| Marfan syndrome (due to FBN1) |
rs1566892727 |
NM_000138.4(FBN1):c.7399C>T (p.Gln2467Ter) |
| Marfan syndrome (due to FBN1) |
rs1566892757 |
NM_000138.4(FBN1):c.7342T>C (p.Cys2448Arg) |
| Marfan syndrome (due to FBN1) |
rs1566895262 |
NM_000138.4(FBN1):c.6569G>T (p.Cys2190Phe) |
| Marfan syndrome (due to FBN1) |
rs1566903907 |
NM_000138.4(FBN1):c.4942+1G>A |
| Marfan syndrome (due to FBN1) |
rs1566903921 |
NM_000138.4(FBN1):c.4911C>A (p.Tyr1637Ter) |
| Marfan syndrome (due to FBN1) |
rs1566908956 |
NM_000138.4(FBN1):c.3599A>T (p.Glu1200Val) |
| Marfan syndrome (due to FBN1) |
rs1566909766 |
NM_000138.4(FBN1):c.3332G>A (p.Cys1111Tyr) |
| Marfan syndrome (due to FBN1) |
rs1566913685 |
NM_000138.4(FBN1):c.2087G>T (p.Cys696Phe) |
| Marfan syndrome (due to FBN1) |
rs1566913974 |
NM_000138.4(FBN1):c.1956T>G (p.Cys652Trp) |
| Marfan syndrome (due to FBN1) |
rs1597509836 |
NM_000138.5(FBN1):c.7820-1G>C |
| Marfan syndrome (due to FBN1) |
rs1597512600 |
NM_000138.4(FBN1):c.7801C>T (p.Gln2601Ter) |
| Marfan syndrome (due to FBN1) |
rs1597523873 |
NM_000138.4(FBN1):c.6508T>C (p.Cys2170Arg) |
| Marfan syndrome (due to FBN1) |
rs1597531796 |
NM_000138.4(FBN1):c.5966G>T (p.Cys1989Phe) |
| Marfan syndrome (due to FBN1) |
rs1597535300 |
NM_000138.4(FBN1):c.5579G>A (p.Cys1860Tyr) |
| Marfan syndrome (due to FBN1) |
rs1597537935 |
NM_000138.4(FBN1):c.5434T>C (p.Cys1812Arg) |
| Marfan syndrome (due to FBN1) |
rs1597540854 |
NM_000138.4(FBN1):c.5378G>A (p.Cys1793Tyr) |
| Marfan syndrome (due to FBN1) |
rs1597553721 |
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) |
| Marfan syndrome (due to FBN1) |
rs1597558920 |
NM_000138.4(FBN1):c.3958T>C (p.Cys1320Arg) |
| Marfan syndrome (due to FBN1) |
rs1597562812 |
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) |
| Marfan syndrome (due to FBN1) |
rs1597562926 |
NM_000138.4(FBN1):c.3473A>G (p.Glu1158Gly) |
| Marfan syndrome (due to FBN1) |
rs1597568822 |
NM_000138.4(FBN1):c.2649G>A (p.Trp883Ter) |
| Marfan syndrome (due to FBN1) |
rs1597569265 |
NM_000138.4(FBN1):c.2438C>G (p.Ser813Ter) |
| Marfan syndrome (due to FBN1) |
rs1597574156 |
NM_000138.4(FBN1):c.2113G>A (p.Ala705Thr) |
| Marfan syndrome (due to FBN1) |
rs1597584082 |
NM_000138.4(FBN1):c.1035C>A (p.Cys345Ter) |
| Marfan syndrome (due to FBN1) |
rs1597591602 |
NM_000138.4(FBN1):c.859G>T (p.Glu287Ter) |
| Marfan syndrome (due to FBN1) |
rs193922186 |
NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp) |
| Marfan syndrome (due to FBN1) |
rs193922189 |
NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro) |
| Marfan syndrome (due to FBN1) |
rs193922199 |
NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter) |
| Marfan syndrome (due to FBN1) |
rs193922204 |
NM_000138.4(FBN1):c.4460-8G>A |
| Marfan syndrome (due to FBN1) |
rs193922206 |
NM_000138.4(FBN1):c.454A>T (p.Ser152Cys) |
| Marfan syndrome (due to FBN1) |
rs193922214 |
NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser) |
| Marfan syndrome (due to FBN1) |
rs193922216 |
NM_000138.4(FBN1):c.5671G>C (p.Asp1891His) |
| Marfan syndrome (due to FBN1) |
rs193922218 |
NM_000138.4(FBN1):c.56C>T (p.Ser19Phe) |
| Marfan syndrome (due to FBN1) |
rs193922224 |
NM_000138.4(FBN1):c.649T>G (p.Trp217Gly) |
| Marfan syndrome (due to FBN1) |
rs193922228 |
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) |
| Marfan syndrome (due to FBN1) |
rs193922235 |
NM_000138.4(FBN1):c.7678del (p.Gln2560fs) |
| Marfan syndrome (due to FBN1) |
rs193922240 |
NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) |
| Marfan syndrome (due to FBN1) |
rs193922243 |
NM_000138.4(FBN1):c.8226+5G>A |
| Marfan syndrome (due to FBN1) |
rs25403 |
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) |
| Marfan syndrome (due to FBN1) |
rs267606796 |
NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter) |
| Marfan syndrome (due to FBN1) |
rs363815 |
NM_000138.4(FBN1):c.6331T>C (p.Cys2111Arg) |
| Marfan syndrome (due to FBN1) |
rs387906623 |
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) |
| Marfan syndrome (due to FBN1) |
rs397515753 |
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) |
| Marfan syndrome (due to FBN1) |
rs397515754 |
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) |
| Marfan syndrome (due to FBN1) |
rs397515755 |
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) |
| Marfan syndrome (due to FBN1) |
rs397515757 |
NM_000138.5(FBN1):c.1468+5G>A |
| Marfan syndrome (due to FBN1) |
rs397515759 |
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515765 |
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) |
| Marfan syndrome (due to FBN1) |
rs397515767 |
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515768 |
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) |
| Marfan syndrome (due to FBN1) |
rs397515771 |
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) |
| Marfan syndrome (due to FBN1) |
rs397515776 |
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) |
| Marfan syndrome (due to FBN1) |
rs397515779 |
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) |
| Marfan syndrome (due to FBN1) |
rs397515786 |
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515788 |
NM_000138.4(FBN1):c.3274del (p.Asp1092fs) |
| Marfan syndrome (due to FBN1) |
rs397515790 |
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) |
| Marfan syndrome (due to FBN1) |
rs397515794 |
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515797 |
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) |
| Marfan syndrome (due to FBN1) |
rs397515801 |
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) |
| Marfan syndrome (due to FBN1) |
rs397515802 |
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) |
| Marfan syndrome (due to FBN1) |
rs397515810 |
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515816 |
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) |
| Marfan syndrome (due to FBN1) |
rs397515817 |
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515820 |
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) |
| Marfan syndrome (due to FBN1) |
rs397515821 |
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) |
| Marfan syndrome (due to FBN1) |
rs397515825 |
NM_000138.4(FBN1):c.561del (p.Phe187fs) |
| Marfan syndrome (due to FBN1) |
rs397515828 |
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515829 |
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) |
| Marfan syndrome (due to FBN1) |
rs397515831 |
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) |
| Marfan syndrome (due to FBN1) |
rs397515833 |
NM_000138.5(FBN1):c.6379+1G>A |
| Marfan syndrome (due to FBN1) |
rs397515848 |
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) |
| Marfan syndrome (due to FBN1) |
rs397515853 |
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) |
| Marfan syndrome (due to FBN1) |
rs397515854 |
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) |
| Marfan syndrome (due to FBN1) |
rs397515859 |
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) |
| Marfan syndrome (due to FBN1) |
rs397515864 |
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) |
| Marfan syndrome (due to FBN1) |
rs397515867 |
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) |
| Marfan syndrome (due to FBN1) |
rs587782944 |
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) |
| Marfan syndrome (due to FBN1) |
rs727503057 |
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) |
| Marfan syndrome (due to FBN1) |
rs727504315 |
NM_000138.4(FBN1):c.5888del (p.Glu1963fs) |
| Marfan syndrome (due to FBN1) |
rs727504347 |
NM_000138.4(FBN1):c.5066del (p.Asp1689fs) |
| Marfan syndrome (due to FBN1) |
rs727505006 |
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) |
| Marfan syndrome (due to FBN1) |
rs730880098 |
NM_000138.4(FBN1):c.281G>T (p.Cys94Phe) |
| Marfan syndrome (due to FBN1) |
rs730880099 |
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) |
| Marfan syndrome (due to FBN1) |
rs730880101 |
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) |
| Marfan syndrome (due to FBN1) |
rs730880107 |
NM_000138.4(FBN1):c.6739+2T>A |
| Marfan syndrome (due to FBN1) |
rs730880356 |
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) |
| Marfan syndrome (due to FBN1) |
rs794728162 |
NM_000138.5(FBN1):c.640G>A |
| Marfan syndrome (due to FBN1) |
rs794728165 |
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) |
| Marfan syndrome (due to FBN1) |
rs794728195 |
NM_000138.5(FBN1):c.2645C>T |
| Marfan syndrome (due to FBN1) |
rs794728203 |
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) |
| Marfan syndrome (due to FBN1) |
rs794728206 |
NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) |
| Marfan syndrome (due to FBN1) |
rs794728210 |
NM_000138.4(FBN1):c.3838G>A (p.Asp1280Asn) |
| Marfan syndrome (due to FBN1) |
rs794728228 |
NM_000138.4(FBN1):c.4621C>T (p.Arg1541Ter) |
| Marfan syndrome (due to FBN1) |
rs794728234 |
NM_000138.4(FBN1):c.5208T>A (p.Cys1736Ter) |
| Marfan syndrome (due to FBN1) |
rs794728249 |
NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg) |
| Marfan syndrome (due to FBN1) |
rs794728254 |
NM_000138.4(FBN1):c.6650G>A (p.Cys2217Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728256 |
NM_000138.4(FBN1):c.6752G>A (p.Cys2251Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728266 |
NM_000138.4(FBN1):c.7205-1G>A |
| Marfan syndrome (due to FBN1) |
rs794728270 |
NM_000138.4(FBN1):c.7253G>A (p.Cys2418Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728272 |
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) |
| Marfan syndrome (due to FBN1) |
rs794728280 |
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) |
| Marfan syndrome (due to FBN1) |
rs794728283 |
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) |
| Marfan syndrome (due to FBN1) |
rs794728322 |
NM_000138.4(FBN1):c.2728+1G>C |
| Marfan syndrome (due to FBN1) |
rs794728335 |
NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) |
| Marfan syndrome (due to FBN1) |
rs794728337 |
NM_000138.4(FBN1):c.7832G>A (p.Cys2611Tyr) |
| Marfan syndrome (due to FBN1) |
rs864622754 |
NM_000138.4(FBN1):c.7169G>A (p.Cys2390Tyr) |
| Marfan syndrome (due to FBN1) |
rs868403743 |
NM_000138.4(FBN1):c.442+1G>A |
| Marfan syndrome (due to FBN1) |
rs869025404 |
NM_000138.4(FBN1):c.1909T>C (p.Cys637Arg) |
| Marfan syndrome (due to FBN1) |
rs869025412 |
NM_000138.4(FBN1):c.6820T>C (p.Cys2274Arg) |
| Marfan syndrome (due to FBN1) |
rs869025413 |
NM_000138.4(FBN1):c.6865T>C (p.Cys2289Arg) |
| Marfan syndrome (due to FBN1) |
rs869025414 |
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) |
| Marfan syndrome (due to FBN1) |
rs869025416 |
NM_000138.4(FBN1):c.7769G>A (p.Cys2590Tyr) |
| Marfan syndrome (due to FBN1) |
rs869025417 |
NM_000138.4(FBN1):c.8339T>C (p.Leu2780Pro) |
| Marfan syndrome (due to FBN1) |
rs869025418 |
NM_000138.4(FBN1):c.5918-2A>G |
| Marfan syndrome (due to FBN1) |
rs869025424 |
NM_000138.4(FBN1):c.7259del (p.Asn2420fs) |
| Marfan syndrome (due to FBN1) |
rs869025426 |
NM_000138.4(FBN1):c.5016dup (p.Ile1673fs) |
| Marfan syndrome (due to FBN1) |
rs878853682 |
NM_000138.4(FBN1):c.434G>A (p.Cys145Tyr) |
| Marfan syndrome (due to FBN1) |
rs878853685 |
NM_000138.4(FBN1):c.5038C>T (p.Gln1680Ter) |
| Marfan syndrome (due to FBN1) |
rs878853686 |
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) |
| Marfan syndrome (due to FBN1) |
rs878853689 |
NM_000138.4(FBN1):c.732T>A (p.Cys244Ter) |
| Marfan syndrome (due to FBN1) |
rs886038786 |
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) |
| Marfan syndrome (due to FBN1) |
rs886038795 |
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) |
| Marfan syndrome (due to FBN1) |
rs886038797 |
NM_000138.4(FBN1):c.7C>T (p.Arg3Ter) |
| Marfan syndrome (due to FBN1) |
rs886038848 |
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) |
| Marfan syndrome (due to FBN1) |
rs886038869 |
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) |
| Marfan syndrome (due to FBN1) |
rs886038940 |
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) |
| Marfan syndrome (due to FBN1) |
rs886038949 |
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) |
| Marfan syndrome (due to FBN1) |
rs886039066 |
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs121912675 |
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs193922680 |
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs267606628 |
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs267606629 |
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs727504379 |
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) |
| Primary dilated cardiomyopathy (due to ACTC1) |
rs767734253 |
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) |
| Primary dilated cardiomyopathy (due to CRYAB) |
rs397516686 |
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) |
| Primary dilated cardiomyopathy (due to DSG2) |
rs758537946 |
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) |
| Primary dilated cardiomyopathy (due to DSG2) |
rs794728084 |
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516945 |
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs397516956 |
NM_004415.4(DSP):c.712dup (p.Ile238fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs727502994 |
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs) |
| Primary dilated cardiomyopathy (due to DSP) |
rs727504498 |
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) |
| Primary dilated cardiomyopathy (due to DSP) |
rs727505115 |
NM_004415.4(DSP):c.2130+1G>A |
| Primary dilated cardiomyopathy (due to KCNE1) |
rs747321794 |
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs111569862 |
NM_170707.4(LMNA):c.1609-1G>A |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607554 |
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607573 |
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607594 |
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607618 |
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs267607646 |
NM_170707.4(LMNA):c.348dup (p.Lys117fs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs28933093 |
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517886 |
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517889 |
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517895 |
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs397517906 |
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs58389804 |
NM_170707.4(LMNA):c.1086del (p.Leu363fs) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs61046466 |
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs61195471 |
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs730880132 |
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs753988867 |
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728589 |
NM_170707.4(LMNA):c.356+1G>C |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728591 |
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728593 |
NM_170707.4(LMNA):c.768G>A (p.Val256=) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728597 |
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) |
| Primary dilated cardiomyopathy (due to LMNA) |
rs794728602 |
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) |
| Primary dilated cardiomyopathy (due to MYBPC3) |
rs397516028 |
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs121913642 |
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs121913647 |
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs377491278 |
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516123 |
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516224 |
NM_000257.4(MYH7):c.457del (p.His153fs) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516248 |
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516252 |
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs397516254 |
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs45516091 |
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs45544633 |
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs606231324 |
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727503253 |
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs727503254 |
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) |
| Primary dilated cardiomyopathy (due to MYH7) |
rs876657879 |
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro) |
| Primary dilated cardiomyopathy (due to MYL2) |
rs143139258 |
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) |
| Primary dilated cardiomyopathy (due to NEXN) |
rs137853197 |
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) |
| Primary dilated cardiomyopathy (due to PLN) |
rs111033560 |
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) |
| Primary dilated cardiomyopathy (due to RBM20) |
rs563762318 |
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs397516352 |
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs397516356 |
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) |
| Primary dilated cardiomyopathy (due to TNNI3) |
rs777702465 |
NM_000363.5(TNNI3):c.24+2T>A |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs397516461 |
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs45586240 |
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) |
| Primary dilated cardiomyopathy (due to TNNT2) |
rs730881097 |
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476310 |
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476311 |
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs199476317 |
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516364 |
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516369 |
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516370 |
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs397516371 |
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) |
| Primary dilated cardiomyopathy (due to TPM1) |
rs727504389 |
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) |
| Primary dilated cardiomyopathy (due to TSFM) |
rs201754030 |
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517497 |
NM_001267550.2(TTN):c.1800+1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517547 |
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517565 |
NM_001267550.2(TTN):c.41610del (p.Val13871fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517601 |
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs397517735 |
NM_001267550.2(TTN):c.86821+2T>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs72646831 |
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs72646846 |
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs748369265 |
NM_001267550.2(TTN):c.55303-1G>A |
| Primary dilated cardiomyopathy (due to TTN) |
rs775186117 |
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs794729285 |
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869025546 |
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869025548 |
NM_001267550.2(TTN):c.45896-2A>G |
| Primary dilated cardiomyopathy (due to TTN) |
rs869025556 |
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312037 |
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312046 |
NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312055 |
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312085 |
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) |
| Primary dilated cardiomyopathy (due to TTN) |
rs869312104 |
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) |
| Primary dilated cardiomyopathy (due to VCL) |
rs397517244 |
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) |
| Primary pulmonary hypertension 1 (due to ACVRL1) |
rs1085307412 |
NM_000020.2(ACVRL1):c.936C>G (p.His312Gln) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs373725296 |
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) |
| Primary pulmonary hypertension 1 (due to BMPR2) |
rs557172581 |
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) |
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