Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566482A>C | CA352149140 | SCN5A | c.3764T>G (p.Leu1255Arg) c.3767T>G (p.Leu1256Arg) c.3605T>G (p.Leu1202Arg) c.3638T>G (p.Leu1213Arg) | |
3 | g.38566482A>G | CA352149142 | SCN5A | c.3764T>C (p.Leu1255Pro) c.3767T>C (p.Leu1256Pro) c.3605T>C (p.Leu1202Pro) c.3638T>C (p.Leu1213Pro) | gnomAD v4 |
3 | g.38566482A>T | CA352149144 | SCN5A | c.3764T>A (p.Leu1255His) c.3767T>A (p.Leu1256His) c.3605T>A (p.Leu1202His) c.3638T>A (p.Leu1213His) | |
3 | g.38566483G>A | CA352149146 | SCN5A | c.3763C>T (p.Leu1255Phe) c.3766C>T (p.Leu1256Phe) c.3604C>T (p.Leu1202Phe) c.3637C>T (p.Leu1213Phe) | gnomAD v4 |
3 | g.38566483G>C | CA352149148 | SCN5A | c.3763C>G (p.Leu1255Val) c.3766C>G (p.Leu1256Val) c.3604C>G (p.Leu1202Val) c.3637C>G (p.Leu1213Val) | |
3 | g.38566483G>T | CA352149150 | SCN5A | c.3763C>A (p.Leu1255Ile) c.3766C>A (p.Leu1256Ile) c.3604C>A (p.Leu1202Ile) c.3637C>A (p.Leu1213Ile) | |
3 | g.38566484del | CA2499216737 | SCN5A | c.3762del (p.Leu1255SerfsTer24) c.3765del (p.Leu1256SerfsTer24) c.3603del (p.Leu1202SerfsTer24) c.3636del (p.Leu1213SerfsTer24) | ClinVar dbSNP |
3 | g.38566484C>A | CA433136783 | SCN5A | c.3762G>T (p.Leu1254=) c.3765G>T (p.Leu1255=) c.3603G>T (p.Leu1201=) c.3636G>T (p.Leu1212=) | |
3 | g.38566484C= | CA1358569590 | SCN5A | c.3762G= (p.Leu1254=) c.3765G= (p.Leu1255=) c.3603G= (p.Leu1201=) c.3636G= (p.Leu1212=) | |
3 | g.38566484C>G | CA433136782 | SCN5A | c.3762G>C (p.Leu1254=) c.3765G>C (p.Leu1255=) c.3603G>C (p.Leu1201=) c.3636G>C (p.Leu1212=) | |
3 | g.38566484C>T | CA433136779 | SCN5A | c.3762G>A (p.Leu1254=) c.3765G>A (p.Leu1255=) c.3603G>A (p.Leu1201=) c.3636G>A (p.Leu1212=) | dbSNP |
3 | g.38566485A>C | CA352149153 | SCN5A | c.3761T>G (p.Leu1254Arg) c.3764T>G (p.Leu1255Arg) c.3602T>G (p.Leu1201Arg) c.3635T>G (p.Leu1212Arg) | |
3 | g.38566485A>G | CA352149156 | SCN5A | c.3761T>C (p.Leu1254Pro) c.3764T>C (p.Leu1255Pro) c.3602T>C (p.Leu1201Pro) c.3635T>C (p.Leu1212Pro) | gnomAD v4 |
3 | g.38566485A>T | CA352149155 | SCN5A | c.3761T>A (p.Leu1254Gln) c.3764T>A (p.Leu1255Gln) c.3602T>A (p.Leu1201Gln) c.3635T>A (p.Leu1212Gln) | |
3 | g.38566486G>A | CA433136786 | SCN5A | c.3760C>T (p.Leu1254=) c.3763C>T (p.Leu1255=) c.3601C>T (p.Leu1201=) c.3634C>T (p.Leu1212=) | |
3 | g.38566486G>C | CA352149158 | SCN5A | c.3760C>G (p.Leu1254Val) c.3763C>G (p.Leu1255Val) c.3601C>G (p.Leu1201Val) c.3634C>G (p.Leu1212Val) | |
3 | g.38566486G= | CA1358569595 | SCN5A | c.3760C= (p.Leu1254=) c.3763C= (p.Leu1255=) c.3601C= (p.Leu1201=) c.3634C= (p.Leu1212=) | |
3 | g.38566486G>T | CA062259 | SCN5A | c.3760C>A (p.Leu1254Met) c.3763C>A (p.Leu1255Met) c.3601C>A (p.Leu1201Met) c.3634C>A (p.Leu1212Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566487C>A | CA352149162 | SCN5A | c.3759G>T (p.Met1253Ile) c.3762G>T (p.Met1254Ile) c.3600G>T (p.Met1200Ile) c.3633G>T (p.Met1211Ile) | |
3 | g.38566487C>G | CA352149163 | SCN5A | c.3759G>C (p.Met1253Ile) c.3762G>C (p.Met1254Ile) c.3600G>C (p.Met1200Ile) c.3633G>C (p.Met1211Ile) | |
3 | g.38566487C>T | CA352149164 | SCN5A | c.3759G>A (p.Met1253Ile) c.3762G>A (p.Met1254Ile) c.3600G>A (p.Met1200Ile) c.3633G>A (p.Met1211Ile) | |
3 | g.38566488del | CA2499216738 | SCN5A | c.3758del (p.Met1253SerfsTer26) c.3761del (p.Met1254SerfsTer26) c.3599del (p.Met1200SerfsTer26) c.3632del (p.Met1211SerfsTer26) | ClinVar dbSNP |
3 | g.38566488A= | CA1358569599 | SCN5A | c.3758T= (p.Met1253=) c.3761T= (p.Met1254=) c.3599T= (p.Met1200=) c.3632T= (p.Met1211=) | |
3 | g.38566488A>C | CA352149165 | SCN5A | c.3758T>G (p.Met1253Arg) c.3761T>G (p.Met1254Arg) c.3599T>G (p.Met1200Arg) c.3632T>G (p.Met1211Arg) | |
3 | g.38566488A>G | CA352149166 | SCN5A | c.3758T>C (p.Met1253Thr) c.3761T>C (p.Met1254Thr) c.3599T>C (p.Met1200Thr) c.3632T>C (p.Met1211Thr) | |
3 | g.38566488A>T | CA352149167 | SCN5A | c.3758T>A (p.Met1253Lys) c.3761T>A (p.Met1254Lys) c.3599T>A (p.Met1200Lys) c.3632T>A (p.Met1211Lys) | ClinVar dbSNP |
3 | g.38566489T>A | CA352149168 | SCN5A | c.3757A>T (p.Met1253Leu) c.3760A>T (p.Met1254Leu) c.3598A>T (p.Met1200Leu) c.3631A>T (p.Met1211Leu) | |
3 | g.38566489T>C | CA352149169 | SCN5A | c.3757A>G (p.Met1253Val) c.3760A>G (p.Met1254Val) c.3598A>G (p.Met1200Val) c.3631A>G (p.Met1211Val) | |
3 | g.38566489T>G | CA352149170 | SCN5A | c.3757A>C (p.Met1253Leu) c.3760A>C (p.Met1254Leu) c.3598A>C (p.Met1200Leu) c.3631A>C (p.Met1211Leu) | |
3 | g.38566490C>A | CA352149172 | SCN5A | c.3756G>T (p.Glu1252Asp) c.3759G>T (p.Glu1253Asp) c.3597G>T (p.Glu1199Asp) c.3630G>T (p.Glu1210Asp) | |
3 | g.38566490C>G | CA352149171 | SCN5A | c.3756G>C (p.Glu1252Asp) c.3759G>C (p.Glu1253Asp) c.3597G>C (p.Glu1199Asp) c.3630G>C (p.Glu1210Asp) | |
3 | g.38566490C>T | CA433136794 | SCN5A | c.3756G>A (p.Glu1252=) c.3759G>A (p.Glu1253=) c.3597G>A (p.Glu1199=) c.3630G>A (p.Glu1210=) | |
3 | g.38566491T>A | CA352149173 | SCN5A | c.3755A>T (p.Glu1252Val) c.3758A>T (p.Glu1253Val) c.3596A>T (p.Glu1199Val) c.3629A>T (p.Glu1210Val) | |
3 | g.38566491T>C | CA017500 | SCN5A | c.3755A>G (p.Glu1252Gly) c.3758A>G (p.Glu1253Gly) c.3596A>G (p.Glu1199Gly) c.3629A>G (p.Glu1210Gly) | ClinVar dbSNP |
3 | g.38566491T>G | CA352149174 | SCN5A | c.3755A>C (p.Glu1252Ala) c.3758A>C (p.Glu1253Ala) c.3596A>C (p.Glu1199Ala) c.3629A>C (p.Glu1210Ala) | |
3 | g.38566491T= | CA1358569603 | SCN5A | c.3755A= (p.Glu1252=) c.3758A= (p.Glu1253=) c.3596A= (p.Glu1199=) c.3629A= (p.Glu1210=) | |
3 | g.38566492C>A | CA352149175 | SCN5A | c.3754G>T (p.Glu1252Ter) c.3757G>T (p.Glu1253Ter) c.3595G>T (p.Glu1199Ter) c.3628G>T (p.Glu1210Ter) | dbSNP |
3 | g.38566492C= | CA1358569606 | SCN5A | c.3754G= (p.Glu1252=) c.3757G= (p.Glu1253=) c.3595G= (p.Glu1199=) c.3628G= (p.Glu1210=) | |
3 | g.38566492C>G | CA352149176 | SCN5A | c.3754G>C (p.Glu1252Gln) c.3757G>C (p.Glu1253Gln) c.3595G>C (p.Glu1199Gln) c.3628G>C (p.Glu1210Gln) | |
3 | g.38566492C>T | CA352149177 | SCN5A | c.3754G>A (p.Glu1252Lys) c.3757G>A (p.Glu1253Lys) c.3595G>A (p.Glu1199Lys) c.3628G>A (p.Glu1210Lys) | COSMIC COSMIC COSMIC |
3 | g.38566493C>A | CA433136801 | SCN5A | c.3753G>T (p.Leu1251=) c.3756G>T (p.Leu1252=) c.3594G>T (p.Leu1198=) c.3627G>T (p.Leu1209=) | |
3 | g.38566493C= | CA1358569609 | SCN5A | c.3753G= (p.Leu1251=) c.3756G= (p.Leu1252=) c.3594G= (p.Leu1198=) c.3627G= (p.Leu1209=) | |
3 | g.38566493C>G | CA433136803 | SCN5A | c.3753G>C (p.Leu1251=) c.3756G>C (p.Leu1252=) c.3594G>C (p.Leu1198=) c.3627G>C (p.Leu1209=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566493C>T | CA433136804 | SCN5A | c.3753G>A (p.Leu1251=) c.3756G>A (p.Leu1252=) c.3594G>A (p.Leu1198=) c.3627G>A (p.Leu1209=) | |
3 | g.38566494A>C | CA352149178 | SCN5A | c.3752T>G (p.Leu1251Arg) c.3755T>G (p.Leu1252Arg) c.3593T>G (p.Leu1198Arg) c.3626T>G (p.Leu1209Arg) | |
3 | g.38566494A>G | CA352149179 | SCN5A | c.3752T>C (p.Leu1251Pro) c.3755T>C (p.Leu1252Pro) c.3593T>C (p.Leu1198Pro) c.3626T>C (p.Leu1209Pro) | |
3 | g.38566494A>T | CA352149180 | SCN5A | c.3752T>A (p.Leu1251Gln) c.3755T>A (p.Leu1252Gln) c.3593T>A (p.Leu1198Gln) c.3626T>A (p.Leu1209Gln) | |
3 | g.38566495G>A | CA433136806 | SCN5A | c.3751C>T (p.Leu1251=) c.3754C>T (p.Leu1252=) c.3592C>T (p.Leu1198=) c.3625C>T (p.Leu1209=) | ClinVar dbSNP |
3 | g.38566495G>C | CA352149181 | SCN5A | c.3751C>G (p.Leu1251Val) c.3754C>G (p.Leu1252Val) c.3592C>G (p.Leu1198Val) c.3625C>G (p.Leu1209Val) | |
3 | g.38566495G= | CA1358569617 | SCN5A | c.3751C= (p.Leu1251=) c.3754C= (p.Leu1252=) c.3592C= (p.Leu1198=) c.3625C= (p.Leu1209=) | |
3 | g.38566495G>T | CA352149182 | SCN5A | c.3751C>A (p.Leu1251Met) c.3754C>A (p.Leu1252Met) c.3592C>A (p.Leu1198Met) c.3625C>A (p.Leu1209Met) | |
3 | g.38566496del | CA2665111942 | SCN5A | c.3750del (p.Leu1251TrpfsTer28) c.3753del (p.Leu1252TrpfsTer28) c.3591del (p.Leu1198TrpfsTer28) c.3624del (p.Leu1209TrpfsTer28) | gnomAD v4 |
3 | g.38566496C>A | CA433136809 | SCN5A | c.3750G>T (p.Val1250=) c.3753G>T (p.Val1251=) c.3591G>T (p.Val1197=) c.3624G>T (p.Val1208=) | |
3 | g.38566496C>G | CA433136811 | SCN5A | c.3750G>C (p.Val1250=) c.3753G>C (p.Val1251=) c.3591G>C (p.Val1197=) c.3624G>C (p.Val1208=) | |
3 | g.38566496C>T | CA433136810 | SCN5A | c.3750G>A (p.Val1250=) c.3753G>A (p.Val1251=) c.3591G>A (p.Val1197=) c.3624G>A (p.Val1208=) | |
3 | g.38566497A>C | CA352149184 | SCN5A | c.3749T>G (p.Val1250Gly) c.3752T>G (p.Val1251Gly) c.3590T>G (p.Val1197Gly) c.3623T>G (p.Val1208Gly) | |
3 | g.38566497A>G | CA352149185 | SCN5A | c.3749T>C (p.Val1250Ala) c.3752T>C (p.Val1251Ala) c.3590T>C (p.Val1197Ala) c.3623T>C (p.Val1208Ala) | gnomAD v4 |
3 | g.38566497A>T | CA352149183 | SCN5A | c.3749T>A (p.Val1250Glu) c.3752T>A (p.Val1251Glu) c.3590T>A (p.Val1197Glu) c.3623T>A (p.Val1208Glu) | |
3 | g.38566498C>A | CA352149186 | SCN5A | c.3748G>T (p.Val1250Leu) c.3751G>T (p.Val1251Leu) c.3589G>T (p.Val1197Leu) c.3622G>T (p.Val1208Leu) | gnomAD v4 |
3 | g.38566498C= | CA1358569624 | SCN5A | c.3748G= (p.Val1250=) c.3751G= (p.Val1251=) c.3589G= (p.Val1197=) c.3622G= (p.Val1208=) | |
3 | g.38566498C>G | CA352149187 | SCN5A | c.3748G>C (p.Val1250Leu) c.3751G>C (p.Val1251Leu) c.3589G>C (p.Val1197Leu) c.3622G>C (p.Val1208Leu) | |
3 | g.38566498C>T | CA017494 | SCN5A | c.3748G>A (p.Val1250Met) c.3751G>A (p.Val1251Met) c.3589G>A (p.Val1197Met) c.3622G>A (p.Val1208Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38566499G>A | CA062251 | SCN5A | c.3747C>T (p.Phe1249=) c.3750C>T (p.Phe1250=) c.3588C>T (p.Phe1196=) c.3621C>T (p.Phe1207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566499G>C | CA352149188 | SCN5A | c.3747C>G (p.Phe1249Leu) c.3750C>G (p.Phe1250Leu) c.3588C>G (p.Phe1196Leu) c.3621C>G (p.Phe1207Leu) | ClinVar dbSNP |
3 | g.38566499G= | CA1358569633 | SCN5A | c.3747C= (p.Phe1249=) c.3750C= (p.Phe1250=) c.3588C= (p.Phe1196=) c.3621C= (p.Phe1207=) | |
3 | g.38566499G>T | CA352149189 | SCN5A | c.3747C>A (p.Phe1249Leu) c.3750C>A (p.Phe1250Leu) c.3588C>A (p.Phe1196Leu) c.3621C>A (p.Phe1207Leu) | |
3 | g.38566500A>C | CA352149190 | SCN5A | c.3746T>G (p.Phe1249Cys) c.3749T>G (p.Phe1250Cys) c.3587T>G (p.Phe1196Cys) c.3620T>G (p.Phe1207Cys) | |
3 | g.38566500A>G | CA352149191 | SCN5A | c.3746T>C (p.Phe1249Ser) c.3749T>C (p.Phe1250Ser) c.3587T>C (p.Phe1196Ser) c.3620T>C (p.Phe1207Ser) | gnomAD v4 |
3 | g.38566500A>T | CA352149192 | SCN5A | c.3746T>A (p.Phe1249Tyr) c.3749T>A (p.Phe1250Tyr) c.3587T>A (p.Phe1196Tyr) c.3620T>A (p.Phe1207Tyr) | |
3 | g.38566501A= | CA1358569651 | SCN5A | c.3745T= (p.Phe1249=) c.3748T= (p.Phe1250=) c.3586T= (p.Phe1196=) c.3619T= (p.Phe1207=) | |
3 | g.38566501A>C | CA352149193 | SCN5A | c.3745T>G (p.Phe1249Val) c.3748T>G (p.Phe1250Val) c.3586T>G (p.Phe1196Val) c.3619T>G (p.Phe1207Val) | |
3 | g.38566501A>G | CA017490 | SCN5A | c.3745T>C (p.Phe1249Leu) c.3748T>C (p.Phe1250Leu) c.3586T>C (p.Phe1196Leu) c.3619T>C (p.Phe1207Leu) | ClinVar dbSNP |
3 | g.38566501A>T | CA352149194 | SCN5A | c.3745T>A (p.Phe1249Ile) c.3748T>A (p.Phe1250Ile) c.3586T>A (p.Phe1196Ile) c.3619T>A (p.Phe1207Ile) | |
3 | g.38566502G>A | CA433136818 | SCN5A | c.3744C>T (p.Val1248=) c.3747C>T (p.Val1249=) c.3585C>T (p.Val1195=) c.3618C>T (p.Val1206=) | |
3 | g.38566502G>C | CA433136820 | SCN5A | c.3744C>G (p.Val1248=) c.3747C>G (p.Val1249=) c.3585C>G (p.Val1195=) c.3618C>G (p.Val1206=) | |
3 | g.38566502G>T | CA433136821 | SCN5A | c.3744C>A (p.Val1248=) c.3747C>A (p.Val1249=) c.3585C>A (p.Val1195=) c.3618C>A (p.Val1206=) | COSMIC COSMIC COSMIC |
3 | g.38566502_38566503delinsAT | CA2697550807 | SCN5A | c.3743_3744delinsAT (p.Val1248Asp) c.3746_3747delinsAT (p.Val1249Asp) c.3584_3585delinsAT (p.Val1195Asp) c.3617_3618delinsAT (p.Val1206Asp) | ClinVar |
3 | g.38566503A= | CA1358569658 | SCN5A | c.3743T= (p.Val1248=) c.3746T= (p.Val1249=) c.3584T= (p.Val1195=) c.3617T= (p.Val1206=) | |
3 | g.38566503A>C | CA352149196 | SCN5A | c.3743T>G (p.Val1248Gly) c.3746T>G (p.Val1249Gly) c.3584T>G (p.Val1195Gly) c.3617T>G (p.Val1206Gly) | |
3 | g.38566503A>G | CA352149195 | SCN5A | c.3743T>C (p.Val1248Ala) c.3746T>C (p.Val1249Ala) c.3584T>C (p.Val1195Ala) c.3617T>C (p.Val1206Ala) | |
3 | g.38566503A>T | CA017484 | SCN5A | c.3743T>A (p.Val1248Asp) c.3746T>A (p.Val1249Asp) c.3584T>A (p.Val1195Asp) c.3617T>A (p.Val1206Asp) | ClinVar dbSNP |
3 | g.38566504C>A | CA352149197 | SCN5A | c.3742G>T (p.Val1248Phe) c.3745G>T (p.Val1249Phe) c.3583G>T (p.Val1195Phe) c.3616G>T (p.Val1206Phe) | |
3 | g.38566504C>G | CA352149198 | SCN5A | c.3742G>C (p.Val1248Leu) c.3745G>C (p.Val1249Leu) c.3583G>C (p.Val1195Leu) c.3616G>C (p.Val1206Leu) | |
3 | g.38566504C>T | CA352149199 | SCN5A | c.3742G>A (p.Val1248Ile) c.3745G>A (p.Val1249Ile) c.3583G>A (p.Val1195Ile) c.3616G>A (p.Val1206Ile) | |
3 | g.38566505A>C | CA352149200 | SCN5A | c.3741T>G (p.Tyr1247Ter) c.3744T>G (p.Tyr1248Ter) c.3582T>G (p.Tyr1194Ter) c.3615T>G (p.Tyr1205Ter) | |
3 | g.38566505A>G | CA433136824 | SCN5A | c.3741T>C (p.Tyr1247=) c.3744T>C (p.Tyr1248=) c.3582T>C (p.Tyr1194=) c.3615T>C (p.Tyr1205=) | |
3 | g.38566505A>T | CA352149201 | SCN5A | c.3741T>A (p.Tyr1247Ter) c.3744T>A (p.Tyr1248Ter) c.3582T>A (p.Tyr1194Ter) c.3615T>A (p.Tyr1205Ter) | |
3 | g.38566506T>A | CA352149202 | SCN5A | c.3740A>T (p.Tyr1247Phe) c.3743A>T (p.Tyr1248Phe) c.3581A>T (p.Tyr1194Phe) c.3614A>T (p.Tyr1205Phe) | ClinVar |
3 | g.38566506T>C | CA352149203 | SCN5A | c.3740A>G (p.Tyr1247Cys) c.3743A>G (p.Tyr1248Cys) c.3581A>G (p.Tyr1194Cys) c.3614A>G (p.Tyr1205Cys) | |
3 | g.38566506T>G | CA352149204 | SCN5A | c.3740A>C (p.Tyr1247Ser) c.3743A>C (p.Tyr1248Ser) c.3581A>C (p.Tyr1194Ser) c.3614A>C (p.Tyr1205Ser) | |
3 | g.38566507A>C | CA352149205 | SCN5A | c.3739T>G (p.Tyr1247Asp) c.3742T>G (p.Tyr1248Asp) c.3580T>G (p.Tyr1194Asp) c.3613T>G (p.Tyr1205Asp) | |
3 | g.38566507A>G | CA352149206 | SCN5A | c.3739T>C (p.Tyr1247His) c.3742T>C (p.Tyr1248His) c.3580T>C (p.Tyr1194His) c.3613T>C (p.Tyr1205His) | gnomAD v4 |
3 | g.38566507A>T | CA352149207 | SCN5A | c.3739T>A (p.Tyr1247Asn) c.3742T>A (p.Tyr1248Asn) c.3580T>A (p.Tyr1194Asn) c.3613T>A (p.Tyr1205Asn) | |
3 | g.38566508T>A | CA433136829 | SCN5A | c.3738A>T (p.Thr1246=) c.3741A>T (p.Thr1247=) c.3579A>T (p.Thr1193=) c.3612A>T (p.Thr1204=) | |
3 | g.38566508T>C | CA433136830 | SCN5A | c.3738A>G (p.Thr1246=) c.3741A>G (p.Thr1247=) c.3579A>G (p.Thr1193=) c.3612A>G (p.Thr1204=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566508T>G | CA433136831 | SCN5A | c.3738A>C (p.Thr1246=) c.3741A>C (p.Thr1247=) c.3579A>C (p.Thr1193=) c.3612A>C (p.Thr1204=) | dbSNP |
3 | g.38566508T= | CA1358569667 | SCN5A | c.3738A= (p.Thr1246=) c.3741A= (p.Thr1247=) c.3579A= (p.Thr1193=) c.3612A= (p.Thr1204=) | |
3 | g.38566509G>A | CA062239 | SCN5A | c.3737C>T (p.Thr1246Ile) c.3740C>T (p.Thr1247Ile) c.3578C>T (p.Thr1193Ile) c.3611C>T (p.Thr1204Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566509G>C | CA352149209 | SCN5A | c.3737C>G (p.Thr1246Arg) c.3740C>G (p.Thr1247Arg) c.3578C>G (p.Thr1193Arg) c.3611C>G (p.Thr1204Arg) | |
3 | g.38566509G= | CA1358569670 | SCN5A | c.3737C= (p.Thr1246=) c.3740C= (p.Thr1247=) c.3578C= (p.Thr1193=) c.3611C= (p.Thr1204=) | |
3 | g.38566509G>T | CA352149211 | SCN5A | c.3737C>A (p.Thr1246Lys) c.3740C>A (p.Thr1247Lys) c.3578C>A (p.Thr1193Lys) c.3611C>A (p.Thr1204Lys) | |
3 | g.38566510T>A | CA352149215 | SCN5A | c.3736A>T (p.Thr1246Ser) c.3739A>T (p.Thr1247Ser) c.3577A>T (p.Thr1193Ser) c.3610A>T (p.Thr1204Ser) | |
3 | g.38566510T>C | CA352149217 | SCN5A | c.3736A>G (p.Thr1246Ala) c.3739A>G (p.Thr1247Ala) c.3577A>G (p.Thr1193Ala) c.3610A>G (p.Thr1204Ala) | |
3 | g.38566510T>G | CA352149213 | SCN5A | c.3736A>C (p.Thr1246Pro) c.3739A>C (p.Thr1247Pro) c.3577A>C (p.Thr1193Pro) c.3610A>C (p.Thr1204Pro) | |
3 | g.38566511G>A | CA433136835 | SCN5A | c.3735C>T (p.Phe1245=) c.3738C>T (p.Phe1246=) c.3576C>T (p.Phe1192=) c.3609C>T (p.Phe1203=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566511G>C | CA352149218 | SCN5A | c.3735C>G (p.Phe1245Leu) c.3738C>G (p.Phe1246Leu) c.3576C>G (p.Phe1192Leu) c.3609C>G (p.Phe1203Leu) | |
3 | g.38566511G= | CA1358569672 | SCN5A | c.3735C= (p.Phe1245=) c.3738C= (p.Phe1246=) c.3576C= (p.Phe1192=) c.3609C= (p.Phe1203=) | |
3 | g.38566511G>T | CA352149219 | SCN5A | c.3735C>A (p.Phe1245Leu) c.3738C>A (p.Phe1246Leu) c.3576C>A (p.Phe1192Leu) c.3609C>A (p.Phe1203Leu) | |
3 | g.38566512A>C | CA352149221 | SCN5A | c.3734T>G (p.Phe1245Cys) c.3737T>G (p.Phe1246Cys) c.3575T>G (p.Phe1192Cys) c.3608T>G (p.Phe1203Cys) | |
3 | g.38566512A>G | CA352149223 | SCN5A | c.3734T>C (p.Phe1245Ser) c.3737T>C (p.Phe1246Ser) c.3575T>C (p.Phe1192Ser) c.3608T>C (p.Phe1203Ser) | |
3 | g.38566512A>T | CA352149224 | SCN5A | c.3734T>A (p.Phe1245Tyr) c.3737T>A (p.Phe1246Tyr) c.3575T>A (p.Phe1192Tyr) c.3608T>A (p.Phe1203Tyr) | |
3 | g.38566513A>C | CA352149225 | SCN5A | c.3733T>G (p.Phe1245Val) c.3736T>G (p.Phe1246Val) c.3574T>G (p.Phe1192Val) c.3607T>G (p.Phe1203Val) | |
3 | g.38566513A>G | CA352149226 | SCN5A | c.3733T>C (p.Phe1245Leu) c.3736T>C (p.Phe1246Leu) c.3574T>C (p.Phe1192Leu) c.3607T>C (p.Phe1203Leu) | |
3 | g.38566513A>T | CA352149227 | SCN5A | c.3733T>A (p.Phe1245Ile) c.3736T>A (p.Phe1246Ile) c.3574T>A (p.Phe1192Ile) c.3607T>A (p.Phe1203Ile) | |
3 | g.38566514C>A | CA352149230 | SCN5A | c.3732G>T (p.Met1244Ile) c.3735G>T (p.Met1245Ile) c.3573G>T (p.Met1191Ile) c.3606G>T (p.Met1202Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566514C= | CA1358569675 | SCN5A | c.3732G= (p.Met1244=) c.3735G= (p.Met1245=) c.3573G= (p.Met1191=) c.3606G= (p.Met1202=) | |
3 | g.38566514C>G | CA352149231 | SCN5A | c.3732G>C (p.Met1244Ile) c.3735G>C (p.Met1245Ile) c.3573G>C (p.Met1191Ile) c.3606G>C (p.Met1202Ile) | |
3 | g.38566514C>T | CA062231 | SCN5A | c.3732G>A (p.Met1244Ile) c.3735G>A (p.Met1245Ile) c.3573G>A (p.Met1191Ile) c.3606G>A (p.Met1202Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566515A= | CA1358569679 | SCN5A | c.3731T= (p.Met1244=) c.3734T= (p.Met1245=) c.3572T= (p.Met1191=) c.3605T= (p.Met1202=) | |
3 | g.38566515A>C | CA352149238 | SCN5A | c.3731T>G (p.Met1244Arg) c.3734T>G (p.Met1245Arg) c.3572T>G (p.Met1191Arg) c.3605T>G (p.Met1202Arg) | ClinVar dbSNP |
3 | g.38566515A>G | CA352149237 | SCN5A | c.3731T>C (p.Met1244Thr) c.3734T>C (p.Met1245Thr) c.3572T>C (p.Met1191Thr) c.3605T>C (p.Met1202Thr) | |
3 | g.38566515A>T | CA352149235 | SCN5A | c.3731T>A (p.Met1244Lys) c.3734T>A (p.Met1245Lys) c.3572T>A (p.Met1191Lys) c.3605T>A (p.Met1202Lys) | |
3 | g.38566516T>A | CA352149241 | SCN5A | c.3730A>T (p.Met1244Leu) c.3733A>T (p.Met1245Leu) c.3571A>T (p.Met1191Leu) c.3604A>T (p.Met1202Leu) | dbSNP gnomAD v4 |
3 | g.38566516T>C | CA352149242 | SCN5A | c.3730A>G (p.Met1244Val) c.3733A>G (p.Met1245Val) c.3571A>G (p.Met1191Val) c.3604A>G (p.Met1202Val) | ClinVar dbSNP |
3 | g.38566516T>G | CA352149245 | SCN5A | c.3730A>C (p.Met1244Leu) c.3733A>C (p.Met1245Leu) c.3571A>C (p.Met1191Leu) c.3604A>C (p.Met1202Leu) | |
3 | g.38566516T= | CA1358569684 | SCN5A | c.3730A= (p.Met1244=) c.3733A= (p.Met1245=) c.3571A= (p.Met1191=) c.3604A= (p.Met1202=) | |
3 | g.38566517C>A | CA352149247 | SCN5A | c.3729G>T (p.Lys1243Asn) c.3732G>T (p.Lys1244Asn) c.3570G>T (p.Lys1190Asn) c.3603G>T (p.Lys1201Asn) | |
3 | g.38566517C>G | CA352149249 | SCN5A | c.3729G>C (p.Lys1243Asn) c.3732G>C (p.Lys1244Asn) c.3570G>C (p.Lys1190Asn) c.3603G>C (p.Lys1201Asn) | |
3 | g.38566517C>T | CA433136850 | SCN5A | c.3729G>A (p.Lys1243=) c.3732G>A (p.Lys1244=) c.3570G>A (p.Lys1190=) c.3603G>A (p.Lys1201=) | |
3 | g.38566518T>A | CA352149252 | SCN5A | c.3728A>T (p.Lys1243Met) c.3731A>T (p.Lys1244Met) c.3569A>T (p.Lys1190Met) c.3602A>T (p.Lys1201Met) | |
3 | g.38566518T>C | CA352149253 | SCN5A | c.3728A>G (p.Lys1243Arg) c.3731A>G (p.Lys1244Arg) c.3569A>G (p.Lys1190Arg) c.3602A>G (p.Lys1201Arg) | |
3 | g.38566518T>G | CA352149254 | SCN5A | c.3728A>C (p.Lys1243Thr) c.3731A>C (p.Lys1244Thr) c.3569A>C (p.Lys1190Thr) c.3602A>C (p.Lys1201Thr) | ClinVar dbSNP |
3 | g.38566518T= | CA1358569686 | SCN5A | c.3728A= (p.Lys1243=) c.3731A= (p.Lys1244=) c.3569A= (p.Lys1190=) c.3602A= (p.Lys1201=) | |
3 | g.38566519T>A | CA352149255 | SCN5A | c.3727A>T (p.Lys1243Ter) c.3730A>T (p.Lys1244Ter) c.3568A>T (p.Lys1190Ter) c.3601A>T (p.Lys1201Ter) | |
3 | g.38566519T>C | CA352149257 | SCN5A | c.3727A>G (p.Lys1243Glu) c.3730A>G (p.Lys1244Glu) c.3568A>G (p.Lys1190Glu) c.3601A>G (p.Lys1201Glu) | dbSNP gnomAD v4 |
3 | g.38566519T>G | CA352149258 | SCN5A | c.3727A>C (p.Lys1243Gln) c.3730A>C (p.Lys1244Gln) c.3568A>C (p.Lys1190Gln) c.3601A>C (p.Lys1201Gln) | |
3 | g.38566519T= | CA1358569690 | SCN5A | c.3727A= (p.Lys1243=) c.3730A= (p.Lys1244=) c.3568A= (p.Lys1190=) c.3601A= (p.Lys1201=) | |
3 | g.38566520G>A | CA433136856 | SCN5A | c.3726C>T (p.Asp1242=) c.3729C>T (p.Asp1243=) c.3567C>T (p.Asp1189=) c.3600C>T (p.Asp1200=) | |
3 | g.38566520G>C | CA352149260 | SCN5A | c.3726C>G (p.Asp1242Glu) c.3729C>G (p.Asp1243Glu) c.3567C>G (p.Asp1189Glu) c.3600C>G (p.Asp1200Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38566520G= | CA1358569693 | SCN5A | c.3726C= (p.Asp1242=) c.3729C= (p.Asp1243=) c.3567C= (p.Asp1189=) c.3600C= (p.Asp1200=) | |
3 | g.38566520G>T | CA352149262 | SCN5A | c.3726C>A (p.Asp1242Glu) c.3729C>A (p.Asp1243Glu) c.3567C>A (p.Asp1189Glu) c.3600C>A (p.Asp1200Glu) | |
3 | g.38566521_38566523del | CA2580069777 | SCN5A | c.3724_3726del (p.Asp1242del) c.3727_3729del (p.Asp1243del) c.3565_3567del (p.Asp1189del) c.3598_3600del (p.Asp1200del) | ClinVar |
3 | g.38566521T>A | CA352149266 | SCN5A | c.3725A>T (p.Asp1242Val) c.3728A>T (p.Asp1243Val) c.3566A>T (p.Asp1189Val) c.3599A>T (p.Asp1200Val) | ClinVar |
3 | g.38566521T>C | CA352149268 | SCN5A | c.3725A>G (p.Asp1242Gly) c.3728A>G (p.Asp1243Gly) c.3566A>G (p.Asp1189Gly) c.3599A>G (p.Asp1200Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38566521T>G | CA352149264 | SCN5A | c.3725A>C (p.Asp1242Ala) c.3728A>C (p.Asp1243Ala) c.3566A>C (p.Asp1189Ala) c.3599A>C (p.Asp1200Ala) | |
3 | g.38566521T= | CA1358569698 | SCN5A | c.3725A= (p.Asp1242=) c.3728A= (p.Asp1243=) c.3566A= (p.Asp1189=) c.3599A= (p.Asp1200=) | |
3 | g.38566522C>A | CA352149270 | SCN5A | c.3724G>T (p.Asp1242Tyr) c.3727G>T (p.Asp1243Tyr) c.3565G>T (p.Asp1189Tyr) c.3598G>T (p.Asp1200Tyr) | ClinVar |
3 | g.38566522C= | CA1358569704 | SCN5A | c.3724G= (p.Asp1242=) c.3727G= (p.Asp1243=) c.3565G= (p.Asp1189=) c.3598G= (p.Asp1200=) | |
3 | g.38566522C>G | CA352149272 | SCN5A | c.3724G>C (p.Asp1242His) c.3727G>C (p.Asp1243His) c.3565G>C (p.Asp1189His) c.3598G>C (p.Asp1200His) | |
3 | g.38566522C>T | CA017472 | SCN5A | c.3724G>A (p.Asp1242Asn) c.3727G>A (p.Asp1243Asn) c.3565G>A (p.Asp1189Asn) c.3598G>A (p.Asp1200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566523G>A | CA062223 | SCN5A | c.3723C>T (p.Ala1241=) c.3726C>T (p.Ala1242=) c.3564C>T (p.Ala1188=) c.3597C>T (p.Ala1199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566523G>C | CA433136863 | SCN5A | c.3723C>G (p.Ala1241=) c.3726C>G (p.Ala1242=) c.3564C>G (p.Ala1188=) c.3597C>G (p.Ala1199=) | ClinVar |
3 | g.38566523G= | CA1358569709 | SCN5A | c.3723C= (p.Ala1241=) c.3726C= (p.Ala1242=) c.3564C= (p.Ala1188=) c.3597C= (p.Ala1199=) | |
3 | g.38566523G>T | CA433136865 | SCN5A | c.3723C>A (p.Ala1241=) c.3726C>A (p.Ala1242=) c.3564C>A (p.Ala1188=) c.3597C>A (p.Ala1199=) | |
3 | g.38566524G>A | CA352149277 | SCN5A | c.3722C>T (p.Ala1241Val) c.3725C>T (p.Ala1242Val) c.3563C>T (p.Ala1188Val) c.3596C>T (p.Ala1199Val) | COSMIC COSMIC COSMIC |
3 | g.38566524G>C | CA352149279 | SCN5A | c.3722C>G (p.Ala1241Gly) c.3725C>G (p.Ala1242Gly) c.3563C>G (p.Ala1188Gly) c.3596C>G (p.Ala1199Gly) | gnomAD v4 |
3 | g.38566524G>T | CA352149280 | SCN5A | c.3722C>A (p.Ala1241Asp) c.3725C>A (p.Ala1242Asp) c.3563C>A (p.Ala1188Asp) c.3596C>A (p.Ala1199Asp) | |
3 | g.38566525C>A | CA352149282 | SCN5A | c.3721G>T (p.Ala1241Ser) c.3724G>T (p.Ala1242Ser) c.3562G>T (p.Ala1188Ser) c.3595G>T (p.Ala1199Ser) | |
3 | g.38566525C>G | CA352149284 | SCN5A | c.3721G>C (p.Ala1241Pro) c.3724G>C (p.Ala1242Pro) c.3562G>C (p.Ala1188Pro) c.3595G>C (p.Ala1199Pro) | |
3 | g.38566525C>T | CA352149285 | SCN5A | c.3721G>A (p.Ala1241Thr) c.3724G>A (p.Ala1242Thr) c.3562G>A (p.Ala1188Thr) c.3595G>A (p.Ala1199Thr) | |
3 | g.38566526A= | CA1358569713 | SCN5A | c.3720T= (p.Tyr1240=) c.3723T= (p.Tyr1241=) c.3561T= (p.Tyr1187=) c.3594T= (p.Tyr1198=) | |
3 | g.38566526A>C | CA352149286 | SCN5A | c.3720T>G (p.Tyr1240Ter) c.3723T>G (p.Tyr1241Ter) c.3561T>G (p.Tyr1187Ter) c.3594T>G (p.Tyr1198Ter) | |
3 | g.38566526A>G | CA433136869 | SCN5A | c.3720T>C (p.Tyr1240=) c.3723T>C (p.Tyr1241=) c.3561T>C (p.Tyr1187=) c.3594T>C (p.Tyr1198=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566526A>T | CA352149287 | SCN5A | c.3720T>A (p.Tyr1240Ter) c.3723T>A (p.Tyr1241Ter) c.3561T>A (p.Tyr1187Ter) c.3594T>A (p.Tyr1198Ter) | |
3 | g.38566527T>A | CA352149292 | SCN5A | c.3719A>T (p.Tyr1240Phe) c.3722A>T (p.Tyr1241Phe) c.3560A>T (p.Tyr1187Phe) c.3593A>T (p.Tyr1198Phe) | |
3 | g.38566527T>C | CA352149290 | SCN5A | c.3719A>G (p.Tyr1240Cys) c.3722A>G (p.Tyr1241Cys) c.3560A>G (p.Tyr1187Cys) c.3593A>G (p.Tyr1198Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T>G | CA017466 | SCN5A | c.3719A>C (p.Tyr1240Ser) c.3722A>C (p.Tyr1241Ser) c.3560A>C (p.Tyr1187Ser) c.3593A>C (p.Tyr1198Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T= | CA1358569716 | SCN5A | c.3719A= (p.Tyr1240=) c.3722A= (p.Tyr1241=) c.3560A= (p.Tyr1187=) c.3593A= (p.Tyr1198=) | |
3 | g.38566528A>C | CA352149294 | SCN5A | c.3718T>G (p.Tyr1240Asp) c.3721T>G (p.Tyr1241Asp) c.3559T>G (p.Tyr1187Asp) c.3592T>G (p.Tyr1198Asp) | |
3 | g.38566528A>G | CA352149296 | SCN5A | c.3718T>C (p.Tyr1240His) c.3721T>C (p.Tyr1241His) c.3559T>C (p.Tyr1187His) c.3592T>C (p.Tyr1198His) | |
3 | g.38566528A>T | CA352149298 | SCN5A | c.3718T>A (p.Tyr1240Asn) c.3721T>A (p.Tyr1241Asn) c.3559T>A (p.Tyr1187Asn) c.3592T>A (p.Tyr1198Asn) | COSMIC |
3 | g.38566529C>A | CA352149300 | SCN5A | c.3717G>T (p.Glu1239Asp) c.3720G>T (p.Glu1240Asp) c.3558G>T (p.Glu1186Asp) c.3591G>T (p.Glu1197Asp) | |
3 | g.38566529C>G | CA352149301 | SCN5A | c.3717G>C (p.Glu1239Asp) c.3720G>C (p.Glu1240Asp) c.3558G>C (p.Glu1186Asp) c.3591G>C (p.Glu1197Asp) | |
3 | g.38566529C>T | CA433136878 | SCN5A | c.3717G>A (p.Glu1239=) c.3720G>A (p.Glu1240=) c.3558G>A (p.Glu1186=) c.3591G>A (p.Glu1197=) | |
3 | g.38566530T>A | CA352149304 | SCN5A | c.3716A>T (p.Glu1239Val) c.3719A>T (p.Glu1240Val) c.3557A>T (p.Glu1186Val) c.3590A>T (p.Glu1197Val) | |
3 | g.38566530T>C | CA352149306 | SCN5A | c.3716A>G (p.Glu1239Gly) c.3719A>G (p.Glu1240Gly) c.3557A>G (p.Glu1186Gly) c.3590A>G (p.Glu1197Gly) | |
3 | g.38566530T>G | CA352149308 | SCN5A | c.3716A>C (p.Glu1239Ala) c.3719A>C (p.Glu1240Ala) c.3557A>C (p.Glu1186Ala) c.3590A>C (p.Glu1197Ala) | dbSNP |
3 | g.38566530T= | CA1358569721 | SCN5A | c.3716A= (p.Glu1239=) c.3719A= (p.Glu1240=) c.3557A= (p.Glu1186=) c.3590A= (p.Glu1197=) | |
3 | g.38566531C>A | CA352149310 | SCN5A | c.3715G>T (p.Glu1239Ter) c.3718G>T (p.Glu1240Ter) c.3556G>T (p.Glu1186Ter) c.3589G>T (p.Glu1197Ter) | dbSNP |
3 | g.38566531C= | CA1358569731 | SCN5A | c.3715G= (p.Glu1239=) c.3718G= (p.Glu1240=) c.3556G= (p.Glu1186=) c.3589G= (p.Glu1197=) | |
3 | g.38566531C>G | CA017461 | SCN5A | c.3715G>C (p.Glu1239Gln) c.3718G>C (p.Glu1240Gln) c.3556G>C (p.Glu1186Gln) c.3589G>C (p.Glu1197Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566531C>T | CA352149312 | SCN5A | c.3715G>A (p.Glu1239Lys) c.3718G>A (p.Glu1240Lys) c.3556G>A (p.Glu1186Lys) c.3589G>A (p.Glu1197Lys) | |
3 | g.38566532A>C | CA433136881 | SCN5A | c.3714T>G (p.Leu1238=) c.3717T>G (p.Leu1239=) c.3555T>G (p.Leu1185=) c.3588T>G (p.Leu1196=) | gnomAD v4 |
3 | g.38566532A>G | CA433136884 | SCN5A | c.3714T>C (p.Leu1238=) c.3717T>C (p.Leu1239=) c.3555T>C (p.Leu1185=) c.3588T>C (p.Leu1196=) | |
3 | g.38566532A>T | CA433136883 | SCN5A | c.3714T>A (p.Leu1238=) c.3717T>A (p.Leu1239=) c.3555T>A (p.Leu1185=) c.3588T>A (p.Leu1196=) | |
3 | g.38566533del | CA2577553238 | SCN5A | c.3714del (p.Glu1239SerfsTer?) c.3717del (p.Glu1240SerfsTer?) c.3555del (p.Glu1186SerfsTer?) c.3588del (p.Glu1197SerfsTer?) | |
3 | g.38566533A= | CA1358569733 | SCN5A | c.3713T= (p.Leu1238=) c.3716T= (p.Leu1239=) c.3554T= (p.Leu1185=) c.3587T= (p.Leu1196=) | |
3 | g.38566533A>C | CA352149314 | SCN5A | c.3713T>G (p.Leu1238Arg) c.3716T>G (p.Leu1239Arg) c.3554T>G (p.Leu1185Arg) c.3587T>G (p.Leu1196Arg) | |
3 | g.38566533A>G | CA017455 | SCN5A | c.3713T>C (p.Leu1238Pro) c.3716T>C (p.Leu1239Pro) c.3554T>C (p.Leu1185Pro) c.3587T>C (p.Leu1196Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566533A>T | CA352149316 | SCN5A | c.3713T>A (p.Leu1238His) c.3716T>A (p.Leu1239His) c.3554T>A (p.Leu1185His) c.3587T>A (p.Leu1196His) | |
3 | g.38566534G>A | CA352149322 | SCN5A | c.3712C>T (p.Leu1238Phe) c.3715C>T (p.Leu1239Phe) c.3553C>T (p.Leu1185Phe) c.3586C>T (p.Leu1196Phe) | gnomAD v4 |
3 | g.38566534G>C | CA352149320 | SCN5A | c.3712C>G (p.Leu1238Val) c.3715C>G (p.Leu1239Val) c.3553C>G (p.Leu1185Val) c.3586C>G (p.Leu1196Val) | |
3 | g.38566534G>T | CA352149319 | SCN5A | c.3712C>A (p.Leu1238Ile) c.3715C>A (p.Leu1239Ile) c.3553C>A (p.Leu1185Ile) c.3586C>A (p.Leu1196Ile) | |
3 | g.38566535C>A | CA433136888 | SCN5A | c.3711G>T (p.Leu1237=) c.3714G>T (p.Leu1238=) c.3552G>T (p.Leu1184=) c.3585G>T (p.Leu1195=) | |
3 | g.38566535C= | CA1358569738 | SCN5A | c.3711G= (p.Leu1237=) c.3714G= (p.Leu1238=) c.3552G= (p.Leu1184=) c.3585G= (p.Leu1195=) | |
3 | g.38566535C>G | CA433136890 | SCN5A | c.3711G>C (p.Leu1237=) c.3714G>C (p.Leu1238=) c.3552G>C (p.Leu1184=) c.3585G>C (p.Leu1195=) | |
3 | g.38566535C>T | CA433136889 | SCN5A | c.3711G>A (p.Leu1237=) c.3714G>A (p.Leu1238=) c.3552G>A (p.Leu1184=) c.3585G>A (p.Leu1195=) | dbSNP gnomAD v4 |
3 | g.38566536A>C | CA352149325 | SCN5A | c.3710T>G (p.Leu1237Arg) c.3713T>G (p.Leu1238Arg) c.3551T>G (p.Leu1184Arg) c.3584T>G (p.Leu1195Arg) | |
3 | g.38566536A>G | CA352149327 | SCN5A | c.3710T>C (p.Leu1237Pro) c.3713T>C (p.Leu1238Pro) c.3551T>C (p.Leu1184Pro) c.3584T>C (p.Leu1195Pro) | |
3 | g.38566536A>T | CA352149329 | SCN5A | c.3710T>A (p.Leu1237Gln) c.3713T>A (p.Leu1238Gln) c.3551T>A (p.Leu1184Gln) c.3584T>A (p.Leu1195Gln) | |
3 | g.38566537G>A | CA433136892 | SCN5A | c.3709C>T (p.Leu1237=) c.3712C>T (p.Leu1238=) c.3550C>T (p.Leu1184=) c.3583C>T (p.Leu1195=) | |
3 | g.38566537G>C | CA352149331 | SCN5A | c.3709C>G (p.Leu1237Val) c.3712C>G (p.Leu1238Val) c.3550C>G (p.Leu1184Val) c.3583C>G (p.Leu1195Val) | |
3 | g.38566537G>T | CA352149333 | SCN5A | c.3709C>A (p.Leu1237Met) c.3712C>A (p.Leu1238Met) c.3550C>A (p.Leu1184Met) c.3583C>A (p.Leu1195Met) | gnomAD v4 |
3 | g.38566538A>C | CA433136894 | SCN5A | c.3708T>G (p.Val1236=) c.3711T>G (p.Val1237=) c.3549T>G (p.Val1183=) c.3582T>G (p.Val1194=) | |
3 | g.38566538A>G | CA433136895 | SCN5A | c.3708T>C (p.Val1236=) c.3711T>C (p.Val1237=) c.3549T>C (p.Val1183=) c.3582T>C (p.Val1194=) | |
3 | g.38566538A>T | CA433136896 | SCN5A | c.3708T>A (p.Val1236=) c.3711T>A (p.Val1237=) c.3549T>A (p.Val1183=) c.3582T>A (p.Val1194=) | |
3 | g.38566539A>C | CA352149335 | SCN5A | c.3707T>G (p.Val1236Gly) c.3710T>G (p.Val1237Gly) c.3548T>G (p.Val1183Gly) c.3581T>G (p.Val1194Gly) | |
3 | g.38566539A>G | CA352149337 | SCN5A | c.3707T>C (p.Val1236Ala) c.3710T>C (p.Val1237Ala) c.3548T>C (p.Val1183Ala) c.3581T>C (p.Val1194Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38566539A>T | CA352149339 | SCN5A | c.3707T>A (p.Val1236Asp) c.3710T>A (p.Val1237Asp) c.3548T>A (p.Val1183Asp) c.3581T>A (p.Val1194Asp) | |
3 | g.38566540C>A | CA352149341 | SCN5A | c.3706G>T (p.Val1236Phe) c.3709G>T (p.Val1237Phe) c.3547G>T (p.Val1183Phe) c.3580G>T (p.Val1194Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566540C= | CA1358569743 | SCN5A | c.3706G= (p.Val1236=) c.3709G= (p.Val1237=) c.3547G= (p.Val1183=) c.3580G= (p.Val1194=) | |
3 | g.38566540C>G | CA352149343 | SCN5A | c.3706G>C (p.Val1236Leu) c.3709G>C (p.Val1237Leu) c.3547G>C (p.Val1183Leu) c.3580G>C (p.Val1194Leu) | gnomAD v4 |
3 | g.38566540C>T | CA017449 | SCN5A | c.3706G>A (p.Val1236Ile) c.3709G>A (p.Val1237Ile) c.3547G>A (p.Val1183Ile) c.3580G>A (p.Val1194Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38566541C>A | CA017441 | SCN5A | c.3705G>T (p.Lys1235Asn) c.3708G>T (p.Lys1236Asn) c.3546G>T (p.Lys1182Asn) c.3579G>T (p.Lys1193Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38566541C= | CA1358569748 | SCN5A | c.3705G= (p.Lys1235=) c.3708G= (p.Lys1236=) c.3546G= (p.Lys1182=) c.3579G= (p.Lys1193=) | |
3 | g.38566541C>G | CA352149346 | SCN5A | c.3705G>C (p.Lys1235Asn) c.3708G>C (p.Lys1236Asn) c.3546G>C (p.Lys1182Asn) c.3579G>C (p.Lys1193Asn) | |
3 | g.38566541C>T | CA433136902 | SCN5A | c.3705G>A (p.Lys1235=) c.3708G>A (p.Lys1236=) c.3546G>A (p.Lys1182=) c.3579G>A (p.Lys1193=) | gnomAD v4 |
3 | g.38566542T>A | CA352149351 | SCN5A | c.3704A>T (p.Lys1235Met) c.3707A>T (p.Lys1236Met) c.3545A>T (p.Lys1182Met) c.3578A>T (p.Lys1193Met) | |
3 | g.38566542T>C | CA017434 | SCN5A | c.3704A>G (p.Lys1235Arg) c.3707A>G (p.Lys1236Arg) c.3545A>G (p.Lys1182Arg) c.3578A>G (p.Lys1193Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566542T>G | CA352149348 | SCN5A | c.3704A>C (p.Lys1235Thr) c.3707A>C (p.Lys1236Thr) c.3545A>C (p.Lys1182Thr) c.3578A>C (p.Lys1193Thr) | |
3 | g.38566542T= | CA1358569753 | SCN5A | c.3704A= (p.Lys1235=) c.3707A= (p.Lys1236=) c.3545A= (p.Lys1182=) c.3578A= (p.Lys1193=) | |
3 | g.38566543T>A | CA352149353 | SCN5A | c.3703A>T (p.Lys1235Ter) c.3706A>T (p.Lys1236Ter) c.3544A>T (p.Lys1182Ter) c.3577A>T (p.Lys1193Ter) | dbSNP |
3 | g.38566543T>C | CA352149355 | SCN5A | c.3703A>G (p.Lys1235Glu) c.3706A>G (p.Lys1236Glu) c.3544A>G (p.Lys1182Glu) c.3577A>G (p.Lys1193Glu) | |
3 | g.38566543T>G | CA352149357 | SCN5A | c.3703A>C (p.Lys1235Gln) c.3706A>C (p.Lys1236Gln) c.3544A>C (p.Lys1182Gln) c.3577A>C (p.Lys1193Gln) | |
3 | g.38566543T= | CA1358569757 | SCN5A | c.3703A= (p.Lys1235=) c.3706A= (p.Lys1236=) c.3544A= (p.Lys1182=) c.3577A= (p.Lys1193=) | |
3 | g.38566544G>A | CA433136906 | SCN5A | c.3702C>T (p.Ile1234=) c.3705C>T (p.Ile1235=) c.3543C>T (p.Ile1181=) c.3576C>T (p.Ile1192=) | |
3 | g.38566544G>C | CA352149359 | SCN5A | c.3702C>G (p.Ile1234Met) c.3705C>G (p.Ile1235Met) c.3543C>G (p.Ile1181Met) c.3576C>G (p.Ile1192Met) | |
3 | g.38566544G>T | CA433136907 | SCN5A | c.3702C>A (p.Ile1234=) c.3705C>A (p.Ile1235=) c.3543C>A (p.Ile1181=) c.3576C>A (p.Ile1192=) | |
3 | g.38566545A>C | CA352149361 | SCN5A | c.3701T>G (p.Ile1234Ser) c.3704T>G (p.Ile1235Ser) c.3542T>G (p.Ile1181Ser) c.3575T>G (p.Ile1192Ser) | |
3 | g.38566545A>G | CA352149364 | SCN5A | c.3701T>C (p.Ile1234Thr) c.3704T>C (p.Ile1235Thr) c.3542T>C (p.Ile1181Thr) c.3575T>C (p.Ile1192Thr) | |
3 | g.38566545A>T | CA352149365 | SCN5A | c.3701T>A (p.Ile1234Asn) c.3704T>A (p.Ile1235Asn) c.3542T>A (p.Ile1181Asn) c.3575T>A (p.Ile1192Asn) | |
3 | g.38566546T>A | CA352149366 | SCN5A | c.3700A>T (p.Ile1234Phe) c.3703A>T (p.Ile1235Phe) c.3541A>T (p.Ile1181Phe) c.3574A>T (p.Ile1192Phe) | gnomAD v4 |
3 | g.38566546T>C | CA352149367 | SCN5A | c.3700A>G (p.Ile1234Val) c.3703A>G (p.Ile1235Val) c.3541A>G (p.Ile1181Val) c.3574A>G (p.Ile1192Val) | |
3 | g.38566546T>G | CA352149369 | SCN5A | c.3700A>C (p.Ile1234Leu) c.3703A>C (p.Ile1235Leu) c.3541A>C (p.Ile1181Leu) c.3574A>C (p.Ile1192Leu) | |
3 | g.38566547G>A | CA433136913 | SCN5A | c.3699C>T (p.Thr1233=) c.3702C>T (p.Thr1234=) c.3540C>T (p.Thr1180=) c.3573C>T (p.Thr1191=) | gnomAD v4 |
3 | g.38566547G>C | CA433136915 | SCN5A | c.3699C>G (p.Thr1233=) c.3702C>G (p.Thr1234=) c.3540C>G (p.Thr1180=) c.3573C>G (p.Thr1191=) | |
3 | g.38566547G>T | CA433136916 | SCN5A | c.3699C>A (p.Thr1233=) c.3702C>A (p.Thr1234=) c.3540C>A (p.Thr1180=) c.3573C>A (p.Thr1191=) | |
3 | g.38566548G>A | CA352149371 | SCN5A | c.3698C>T (p.Thr1233Ile) c.3701C>T (p.Thr1234Ile) c.3539C>T (p.Thr1180Ile) c.3572C>T (p.Thr1191Ile) | ClinVar |
3 | g.38566548G>C | CA352149372 | SCN5A | c.3698C>G (p.Thr1233Ser) c.3701C>G (p.Thr1234Ser) c.3539C>G (p.Thr1180Ser) c.3572C>G (p.Thr1191Ser) | |
3 | g.38566548G>T | CA352149373 | SCN5A | c.3698C>A (p.Thr1233Asn) c.3701C>A (p.Thr1234Asn) c.3539C>A (p.Thr1180Asn) c.3572C>A (p.Thr1191Asn) | |
3 | g.38566549T>A | CA352149391 | SCN5A | c.3697A>T (p.Thr1233Ser) c.3700A>T (p.Thr1234Ser) c.3538A>T (p.Thr1180Ser) c.3571A>T (p.Thr1191Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38566549T>C | CA352149392 | SCN5A | c.3697A>G (p.Thr1233Ala) c.3700A>G (p.Thr1234Ala) c.3538A>G (p.Thr1180Ala) c.3571A>G (p.Thr1191Ala) | |
3 | g.38566549T>G | CA352149382 | SCN5A | c.3697A>C (p.Thr1233Pro) c.3700A>C (p.Thr1234Pro) c.3538A>C (p.Thr1180Pro) c.3571A>C (p.Thr1191Pro) | |
3 | g.38566549T= | CA1358569759 | SCN5A | c.3697A= (p.Thr1233=) c.3700A= (p.Thr1234=) c.3538A= (p.Thr1180=) c.3571A= (p.Thr1191=) | |
3 | g.38566550C>A | CA352149393 | SCN5A | c.3696G>T (p.Lys1232Asn) c.3699G>T (p.Lys1233Asn) c.3537G>T (p.Lys1179Asn) c.3570G>T (p.Lys1190Asn) | gnomAD v4 |
3 | g.38566550C>G | CA352149394 | SCN5A | c.3696G>C (p.Lys1232Asn) c.3699G>C (p.Lys1233Asn) c.3537G>C (p.Lys1179Asn) c.3570G>C (p.Lys1190Asn) | |
3 | g.38566550C>T | CA433136922 | SCN5A | c.3696G>A (p.Lys1232=) c.3699G>A (p.Lys1233=) c.3537G>A (p.Lys1179=) c.3570G>A (p.Lys1190=) | COSMIC COSMIC COSMIC |
3 | g.38566551T>A | CA352149395 | SCN5A | c.3695A>T (p.Lys1232Met) c.3698A>T (p.Lys1233Met) c.3536A>T (p.Lys1179Met) c.3569A>T (p.Lys1190Met) | |
3 | g.38566551T>C | CA352149396 | SCN5A | c.3695A>G (p.Lys1232Arg) c.3698A>G (p.Lys1233Arg) c.3536A>G (p.Lys1179Arg) c.3569A>G (p.Lys1190Arg) | |
3 | g.38566551T>G | CA352149397 | SCN5A | c.3695A>C (p.Lys1232Thr) c.3698A>C (p.Lys1233Thr) c.3536A>C (p.Lys1179Thr) c.3569A>C (p.Lys1190Thr) | |
3 | g.38566552T>A | CA352149398 | SCN5A | c.3694A>T (p.Lys1232Ter) c.3697A>T (p.Lys1233Ter) c.3535A>T (p.Lys1179Ter) c.3568A>T (p.Lys1190Ter) | ClinVar dbSNP |
3 | g.38566552T>C | CA352149399 | SCN5A | c.3694A>G (p.Lys1232Glu) c.3697A>G (p.Lys1233Glu) c.3535A>G (p.Lys1179Glu) c.3568A>G (p.Lys1190Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566552T>G | CA352149401 | SCN5A | c.3694A>C (p.Lys1232Gln) c.3697A>C (p.Lys1233Gln) c.3535A>C (p.Lys1179Gln) c.3568A>C (p.Lys1190Gln) | |
3 | g.38566552T= | CA1358569763 | SCN5A | c.3694A= (p.Lys1232=) c.3697A= (p.Lys1233=) c.3535A= (p.Lys1179=) c.3568A= (p.Lys1190=) | |
3 | g.38566553C>A | CA433136932 | SCN5A | c.3693G>T (p.Arg1231=) c.3696G>T (p.Arg1232=) c.3534G>T (p.Arg1178=) c.3567G>T (p.Arg1189=) | |
3 | g.38566553C>G | CA433136930 | SCN5A | c.3693G>C (p.Arg1231=) c.3696G>C (p.Arg1232=) c.3534G>C (p.Arg1178=) c.3567G>C (p.Arg1189=) | |
3 | g.38566553C>T | CA433136928 | SCN5A | c.3693G>A (p.Arg1231=) c.3696G>A (p.Arg1232=) c.3534G>A (p.Arg1178=) c.3567G>A (p.Arg1189=) | gnomAD v4 |
3 | g.38566554del | CA2580069778 | SCN5A | c.3693del (p.Lys1232ArgfsTer?) c.3696del (p.Lys1233ArgfsTer?) c.3534del (p.Lys1179ArgfsTer?) c.3567del (p.Lys1190ArgfsTer?) | ClinVar |
3 | g.38566554C>A | CA352149402 | SCN5A | c.3692G>T (p.Arg1231Leu) c.3695G>T (p.Arg1232Leu) c.3533G>T (p.Arg1178Leu) c.3566G>T (p.Arg1189Leu) | |
3 | g.38566554C= | CA1358569768 | SCN5A | c.3692G= (p.Arg1231=) c.3695G= (p.Arg1232=) c.3533G= (p.Arg1178=) c.3566G= (p.Arg1189=) | |
3 | g.38566554C>G | CA352149403 | SCN5A | c.3692G>C (p.Arg1231Pro) c.3695G>C (p.Arg1232Pro) c.3533G>C (p.Arg1178Pro) c.3566G>C (p.Arg1189Pro) | |
3 | g.38566554C>T | CA017422 | SCN5A | c.3692G>A (p.Arg1231Gln) c.3695G>A (p.Arg1232Gln) c.3533G>A (p.Arg1178Gln) c.3566G>A (p.Arg1189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566555G>A | CA017416 | SCN5A | c.3691C>T (p.Arg1231Trp) c.3694C>T (p.Arg1232Trp) c.3532C>T (p.Arg1178Trp) c.3565C>T (p.Arg1189Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.38566555G>C | CA352149406 | SCN5A | c.3691C>G (p.Arg1231Gly) c.3694C>G (p.Arg1232Gly) c.3532C>G (p.Arg1178Gly) c.3565C>G (p.Arg1189Gly) | |
3 | g.38566555G= | CA1358569777 | SCN5A | c.3691C= (p.Arg1231=) c.3694C= (p.Arg1232=) c.3532C= (p.Arg1178=) c.3565C= (p.Arg1189=) | |
3 | g.38566555G>T | CA433136933 | SCN5A | c.3691C>A (p.Arg1231=) c.3694C>A (p.Arg1232=) c.3532C>A (p.Arg1178=) c.3565C>A (p.Arg1189=) | COSMIC COSMIC COSMIC |
3 | g.38566556C>A | CA352149407 | SCN5A | c.3690G>T (p.Glu1230Asp) c.3693G>T (p.Glu1231Asp) c.3531G>T (p.Glu1177Asp) c.3564G>T (p.Glu1188Asp) | |
3 | g.38566556C= | CA1358569781 | SCN5A | c.3690G= (p.Glu1230=) c.3693G= (p.Glu1231=) c.3531G= (p.Glu1177=) c.3564G= (p.Glu1188=) | |
3 | g.38566556C>G | CA352149409 | SCN5A | c.3690G>C (p.Glu1230Asp) c.3693G>C (p.Glu1231Asp) c.3531G>C (p.Glu1177Asp) c.3564G>C (p.Glu1188Asp) | |
3 | g.38566556C>T | CA433136934 | SCN5A | c.3690G>A (p.Glu1230=) c.3693G>A (p.Glu1231=) c.3531G>A (p.Glu1177=) c.3564G>A (p.Glu1188=) | dbSNP |
3 | g.38566557T>A | CA352149415 | SCN5A | c.3689A>T (p.Glu1230Val) c.3692A>T (p.Glu1231Val) c.3530A>T (p.Glu1177Val) c.3563A>T (p.Glu1188Val) | |
3 | g.38566557T>C | CA352149411 | SCN5A | c.3689A>G (p.Glu1230Gly) c.3692A>G (p.Glu1231Gly) c.3530A>G (p.Glu1177Gly) c.3563A>G (p.Glu1188Gly) | gnomAD v4 |
3 | g.38566557T>G | CA352149413 | SCN5A | c.3689A>C (p.Glu1230Ala) c.3692A>C (p.Glu1231Ala) c.3530A>C (p.Glu1177Ala) c.3563A>C (p.Glu1188Ala) | ClinVar dbSNP |
3 | g.38566557T= | CA1358569785 | SCN5A | c.3689A= (p.Glu1230=) c.3692A= (p.Glu1231=) c.3530A= (p.Glu1177=) c.3563A= (p.Glu1188=) | |
3 | g.38566558C>A | CA352149417 | SCN5A | c.3688G>T (p.Glu1230Ter) c.3691G>T (p.Glu1231Ter) c.3529G>T (p.Glu1177Ter) c.3562G>T (p.Glu1188Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38566558C= | CA1358569801 | SCN5A | c.3688G= (p.Glu1230=) c.3691G= (p.Glu1231=) c.3529G= (p.Glu1177=) c.3562G= (p.Glu1188=) | |
3 | g.38566558C>G | CA352149419 | SCN5A | c.3688G>C (p.Glu1230Gln) c.3691G>C (p.Glu1231Gln) c.3529G>C (p.Glu1177Gln) c.3562G>C (p.Glu1188Gln) | ClinVar dbSNP |
3 | g.38566558C>T | CA017410 | SCN5A | c.3688G>A (p.Glu1230Lys) c.3691G>A (p.Glu1231Lys) c.3529G>A (p.Glu1177Lys) c.3562G>A (p.Glu1188Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566559C>A | CA352149421 | SCN5A | c.3687G>T (p.Glu1229Asp) c.3690G>T (p.Glu1230Asp) c.3528G>T (p.Glu1176Asp) c.3561G>T (p.Glu1187Asp) | |
3 | g.38566559C>G | CA352149422 | SCN5A | c.3687G>C (p.Glu1229Asp) c.3690G>C (p.Glu1230Asp) c.3528G>C (p.Glu1176Asp) c.3561G>C (p.Glu1187Asp) | |
3 | g.38566559C>T | CA433136940 | SCN5A | c.3687G>A (p.Glu1229=) c.3690G>A (p.Glu1230=) c.3528G>A (p.Glu1176=) c.3561G>A (p.Glu1187=) | |
3 | g.38566560T>A | CA352149423 | SCN5A | c.3686A>T (p.Glu1229Val) c.3689A>T (p.Glu1230Val) c.3527A>T (p.Glu1176Val) c.3560A>T (p.Glu1187Val) | |
3 | g.38566560T>C | CA352149425 | SCN5A | c.3686A>G (p.Glu1229Gly) c.3689A>G (p.Glu1230Gly) c.3527A>G (p.Glu1176Gly) c.3560A>G (p.Glu1187Gly) | |
3 | g.38566560T>G | CA352149426 | SCN5A | c.3686A>C (p.Glu1229Ala) c.3689A>C (p.Glu1230Ala) c.3527A>C (p.Glu1176Ala) c.3560A>C (p.Glu1187Ala) | |
3 | g.38566561C>A | CA352149427 | SCN5A | c.3685G>T (p.Glu1229Ter) c.3688G>T (p.Glu1230Ter) c.3526G>T (p.Glu1176Ter) c.3559G>T (p.Glu1187Ter) | dbSNP |
3 | g.38566561C= | CA1358569808 | SCN5A | c.3685G= (p.Glu1229=) c.3688G= (p.Glu1230=) c.3526G= (p.Glu1176=) c.3559G= (p.Glu1187=) | |
3 | g.38566561C>G | CA352149428 | SCN5A | c.3685G>C (p.Glu1229Gln) c.3688G>C (p.Glu1230Gln) c.3526G>C (p.Glu1176Gln) c.3559G>C (p.Glu1187Gln) | |
3 | g.38566561C>T | CA062201 | SCN5A | c.3685G>A (p.Glu1229Lys) c.3688G>A (p.Glu1230Lys) c.3526G>A (p.Glu1176Lys) c.3559G>A (p.Glu1187Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566562T>A | CA433136946 | SCN5A | c.3684A>T (p.Leu1228=) c.3687A>T (p.Leu1229=) c.3525A>T (p.Leu1175=) c.3558A>T (p.Leu1186=) | |
3 | g.38566562T>C | CA433136947 | SCN5A | c.3684A>G (p.Leu1228=) c.3687A>G (p.Leu1229=) c.3525A>G (p.Leu1175=) c.3558A>G (p.Leu1186=) | ClinVar dbSNP |
3 | g.38566562T>G | CA433136949 | SCN5A | c.3684A>C (p.Leu1228=) c.3687A>C (p.Leu1229=) c.3525A>C (p.Leu1175=) c.3558A>C (p.Leu1186=) | |
3 | g.38566563A>C | CA352149436 | SCN5A | c.3683T>G (p.Leu1228Arg) c.3686T>G (p.Leu1229Arg) c.3524T>G (p.Leu1175Arg) c.3557T>G (p.Leu1186Arg) | |
3 | g.38566563A>G | CA352149433 | SCN5A | c.3683T>C (p.Leu1228Pro) c.3686T>C (p.Leu1229Pro) c.3524T>C (p.Leu1175Pro) c.3557T>C (p.Leu1186Pro) | |
3 | g.38566563A>T | CA352149432 | SCN5A | c.3683T>A (p.Leu1228Gln) c.3686T>A (p.Leu1229Gln) c.3524T>A (p.Leu1175Gln) c.3557T>A (p.Leu1186Gln) | gnomAD v4 |
3 | g.38566564G>A | CA433136950 | SCN5A | c.3682C>T (p.Leu1228=) c.3685C>T (p.Leu1229=) c.3523C>T (p.Leu1175=) c.3556C>T (p.Leu1186=) | ClinVar |
3 | g.38566564G>C | CA352149438 | SCN5A | c.3682C>G (p.Leu1228Val) c.3685C>G (p.Leu1229Val) c.3523C>G (p.Leu1175Val) c.3556C>G (p.Leu1186Val) | |
3 | g.38566564G>T | CA352149439 | SCN5A | c.3682C>A (p.Leu1228Ile) c.3685C>A (p.Leu1229Ile) c.3523C>A (p.Leu1175Ile) c.3556C>A (p.Leu1186Ile) | |
3 | g.38566565G>A | CA433136953 | SCN5A | c.3681C>T (p.Tyr1227=) c.3684C>T (p.Tyr1228=) c.3522C>T (p.Tyr1174=) c.3555C>T (p.Tyr1185=) | |
3 | g.38566565G>C | CA352149443 | SCN5A | c.3681C>G (p.Tyr1227Ter) c.3684C>G (p.Tyr1228Ter) c.3522C>G (p.Tyr1174Ter) c.3555C>G (p.Tyr1185Ter) | ClinVar dbSNP |
3 | g.38566565G= | CA1358569811 | SCN5A | c.3681C= (p.Tyr1227=) c.3684C= (p.Tyr1228=) c.3522C= (p.Tyr1174=) c.3555C= (p.Tyr1185=) | |
3 | g.38566565G>T | CA352149444 | SCN5A | c.3681C>A (p.Tyr1227Ter) c.3684C>A (p.Tyr1228Ter) c.3522C>A (p.Tyr1174Ter) c.3555C>A (p.Tyr1185Ter) | |
3 | g.38566566T>A | CA352149448 | SCN5A | c.3680A>T (p.Tyr1227Phe) c.3683A>T (p.Tyr1228Phe) c.3521A>T (p.Tyr1174Phe) c.3554A>T (p.Tyr1185Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566566T>C | CA062194 | SCN5A | c.3680A>G (p.Tyr1227Cys) c.3683A>G (p.Tyr1228Cys) c.3521A>G (p.Tyr1174Cys) c.3554A>G (p.Tyr1185Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566566T>G | CA352149450 | SCN5A | c.3680A>C (p.Tyr1227Ser) c.3683A>C (p.Tyr1228Ser) c.3521A>C (p.Tyr1174Ser) c.3554A>C (p.Tyr1185Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566566T= | CA1358569819 | SCN5A | c.3680A= (p.Tyr1227=) c.3683A= (p.Tyr1228=) c.3521A= (p.Tyr1174=) c.3554A= (p.Tyr1185=) | |
3 | g.38566567A= | CA1358569827 | SCN5A | c.3679T= (p.Tyr1227=) c.3682T= (p.Tyr1228=) c.3520T= (p.Tyr1174=) c.3553T= (p.Tyr1185=) | |
3 | g.38566567A>C | CA352149452 | SCN5A | c.3679T>G (p.Tyr1227Asp) c.3682T>G (p.Tyr1228Asp) c.3520T>G (p.Tyr1174Asp) c.3553T>G (p.Tyr1185Asp) | |
3 | g.38566567A>G | CA017405 | SCN5A | c.3679T>C (p.Tyr1227His) c.3682T>C (p.Tyr1228His) c.3520T>C (p.Tyr1174His) c.3553T>C (p.Tyr1185His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566567A>T | CA352149454 | SCN5A | c.3679T>A (p.Tyr1227Asn) c.3682T>A (p.Tyr1228Asn) c.3520T>A (p.Tyr1174Asn) c.3553T>A (p.Tyr1185Asn) | |
3 | g.38566568G>A | CA433136963 | SCN5A | c.3678C>T (p.Ile1226=) c.3681C>T (p.Ile1227=) c.3519C>T (p.Ile1173=) c.3552C>T (p.Ile1184=) | |
3 | g.38566568G>C | CA352149456 | SCN5A | c.3678C>G (p.Ile1226Met) c.3681C>G (p.Ile1227Met) c.3519C>G (p.Ile1173Met) c.3552C>G (p.Ile1184Met) | |
3 | g.38566568G>T | CA433136960 | SCN5A | c.3678C>A (p.Ile1226=) c.3681C>A (p.Ile1227=) c.3519C>A (p.Ile1173=) c.3552C>A (p.Ile1184=) | ClinVar gnomAD v4 |
3 | g.38566569A>C | CA352149459 | SCN5A | c.3677T>G (p.Ile1226Ser) c.3680T>G (p.Ile1227Ser) c.3518T>G (p.Ile1173Ser) c.3551T>G (p.Ile1184Ser) | |
3 | g.38566569A>G | CA352149461 | SCN5A | c.3677T>C (p.Ile1226Thr) c.3680T>C (p.Ile1227Thr) c.3518T>C (p.Ile1173Thr) c.3551T>C (p.Ile1184Thr) | |
3 | g.38566569A>T | CA352149463 | SCN5A | c.3677T>A (p.Ile1226Asn) c.3680T>A (p.Ile1227Asn) c.3518T>A (p.Ile1173Asn) c.3551T>A (p.Ile1184Asn) | |
3 | g.38566570T>A | CA352149464 | SCN5A | c.3676A>T (p.Ile1226Phe) c.3679A>T (p.Ile1227Phe) c.3517A>T (p.Ile1173Phe) c.3550A>T (p.Ile1184Phe) | |
3 | g.38566570T>C | CA352149468 | SCN5A | c.3676A>G (p.Ile1226Val) c.3679A>G (p.Ile1227Val) c.3517A>G (p.Ile1173Val) c.3550A>G (p.Ile1184Val) | |
3 | g.38566570T>G | CA352149466 | SCN5A | c.3676A>C (p.Ile1226Leu) c.3679A>C (p.Ile1227Leu) c.3517A>C (p.Ile1173Leu) c.3550A>C (p.Ile1184Leu) | |
3 | g.38566571G>A | CA433136968 | SCN5A | c.3675C>T (p.Asp1225=) c.3678C>T (p.Asp1226=) c.3516C>T (p.Asp1172=) c.3549C>T (p.Asp1183=) | dbSNP |
3 | g.38566571G>C | CA352149470 | SCN5A | c.3675C>G (p.Asp1225Glu) c.3678C>G (p.Asp1226Glu) c.3516C>G (p.Asp1172Glu) c.3549C>G (p.Asp1183Glu) | |
3 | g.38566571G= | CA1358569832 | SCN5A | c.3675C= (p.Asp1225=) c.3678C= (p.Asp1226=) c.3516C= (p.Asp1172=) c.3549C= (p.Asp1183=) | |
3 | g.38566571G>T | CA352149471 | SCN5A | c.3675C>A (p.Asp1225Glu) c.3678C>A (p.Asp1226Glu) c.3516C>A (p.Asp1172Glu) c.3549C>A (p.Asp1183Glu) | |
3 | g.38566572T>A | CA352149474 | SCN5A | c.3674A>T (p.Asp1225Val) c.3677A>T (p.Asp1226Val) c.3515A>T (p.Asp1172Val) c.3548A>T (p.Asp1183Val) | |
3 | g.38566572T>C | CA352149476 | SCN5A | c.3674A>G (p.Asp1225Gly) c.3677A>G (p.Asp1226Gly) c.3515A>G (p.Asp1172Gly) c.3548A>G (p.Asp1183Gly) | |
3 | g.38566572T>G | CA352149480 | SCN5A | c.3674A>C (p.Asp1225Ala) c.3677A>C (p.Asp1226Ala) c.3515A>C (p.Asp1172Ala) c.3548A>C (p.Asp1183Ala) | |
3 | g.38566573C>A | CA352149482 | SCN5A | c.3673G>T (p.Asp1225Tyr) c.3676G>T (p.Asp1226Tyr) c.3514G>T (p.Asp1172Tyr) c.3547G>T (p.Asp1183Tyr) | |
3 | g.38566573C>G | CA352149484 | SCN5A | c.3673G>C (p.Asp1225His) c.3676G>C (p.Asp1226His) c.3514G>C (p.Asp1172His) c.3547G>C (p.Asp1183His) | |
3 | g.38566573C>T | CA352149487 | SCN5A | c.3673G>A (p.Asp1225Asn) c.3676G>A (p.Asp1226Asn) c.3514G>A (p.Asp1172Asn) c.3547G>A (p.Asp1183Asn) | |
3 | g.38566574C>A | CA352149489 | SCN5A | c.3672G>T (p.Glu1224Asp) c.3675G>T (p.Glu1225Asp) c.3513G>T (p.Glu1171Asp) c.3546G>T (p.Glu1182Asp) | |
3 | g.38566574C>G | CA352149490 | SCN5A | c.3672G>C (p.Glu1224Asp) c.3675G>C (p.Glu1225Asp) c.3513G>C (p.Glu1171Asp) c.3546G>C (p.Glu1182Asp) | |
3 | g.38566574C>T | CA433136979 | SCN5A | c.3672G>A (p.Glu1224=) c.3675G>A (p.Glu1225=) c.3513G>A (p.Glu1171=) c.3546G>A (p.Glu1182=) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38566575T>A | CA352149507 | SCN5A | c.3671A>T (p.Glu1224Val) c.3674A>T (p.Glu1225Val) c.3512A>T (p.Glu1171Val) c.3545A>T (p.Glu1182Val) | |
3 | g.38566575T>C | CA352149505 | SCN5A | c.3671A>G (p.Glu1224Gly) c.3674A>G (p.Glu1225Gly) c.3512A>G (p.Glu1171Gly) c.3545A>G (p.Glu1182Gly) | |
3 | g.38566575T>G | CA352149493 | SCN5A | c.3671A>C (p.Glu1224Ala) c.3674A>C (p.Glu1225Ala) c.3512A>C (p.Glu1171Ala) c.3545A>C (p.Glu1182Ala) | |
3 | g.38566576C>A | CA352149510 | SCN5A | c.3670G>T (p.Glu1224Ter) c.3673G>T (p.Glu1225Ter) c.3511G>T (p.Glu1171Ter) c.3544G>T (p.Glu1182Ter) | dbSNP |
3 | g.38566576C= | CA1358569838 | SCN5A | c.3670G= (p.Glu1224=) c.3673G= (p.Glu1225=) c.3511G= (p.Glu1171=) c.3544G= (p.Glu1182=) | |
3 | g.38566576C>G | CA352149513 | SCN5A | c.3670G>C (p.Glu1224Gln) c.3673G>C (p.Glu1225Gln) c.3511G>C (p.Glu1171Gln) c.3544G>C (p.Glu1182Gln) | ClinVar |
3 | g.38566576C>T | CA017399 | SCN5A | c.3670G>A (p.Glu1224Lys) c.3673G>A (p.Glu1225Lys) c.3511G>A (p.Glu1171Lys) c.3544G>A (p.Glu1182Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566577G>A | CA433136988 | SCN5A | c.3669C>T (p.Phe1223=) c.3672C>T (p.Phe1224=) c.3510C>T (p.Phe1170=) c.3543C>T (p.Phe1181=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566577G>C | CA352149516 | SCN5A | c.3669C>G (p.Phe1223Leu) c.3672C>G (p.Phe1224Leu) c.3510C>G (p.Phe1170Leu) c.3543C>G (p.Phe1181Leu) | |
3 | g.38566577G= | CA1358569845 | SCN5A | c.3669C= (p.Phe1223=) c.3672C= (p.Phe1224=) c.3510C= (p.Phe1170=) c.3543C= (p.Phe1181=) | |
3 | g.38566577G>T | CA352149530 | SCN5A | c.3669C>A (p.Phe1223Leu) c.3672C>A (p.Phe1224Leu) c.3510C>A (p.Phe1170Leu) c.3543C>A (p.Phe1181Leu) | |
3 | g.38566578A>C | CA352149540 | SCN5A | c.3668T>G (p.Phe1223Cys) c.3671T>G (p.Phe1224Cys) c.3509T>G (p.Phe1170Cys) c.3542T>G (p.Phe1181Cys) | |
3 | g.38566578A>G | CA352149544 | SCN5A | c.3668T>C (p.Phe1223Ser) c.3671T>C (p.Phe1224Ser) c.3509T>C (p.Phe1170Ser) c.3542T>C (p.Phe1181Ser) | |
3 | g.38566578A>T | CA352149542 | SCN5A | c.3668T>A (p.Phe1223Tyr) c.3671T>A (p.Phe1224Tyr) c.3509T>A (p.Phe1170Tyr) c.3542T>A (p.Phe1181Tyr) | |
3 | g.38566579A>C | CA352149552 | SCN5A | c.3667T>G (p.Phe1223Val) c.3670T>G (p.Phe1224Val) c.3508T>G (p.Phe1170Val) c.3541T>G (p.Phe1181Val) | |
3 | g.38566579A>G | CA352149555 | SCN5A | c.3667T>C (p.Phe1223Leu) c.3670T>C (p.Phe1224Leu) c.3508T>C (p.Phe1170Leu) c.3541T>C (p.Phe1181Leu) | |
3 | g.38566579A>T | CA352149558 | SCN5A | c.3667T>A (p.Phe1223Ile) c.3670T>A (p.Phe1224Ile) c.3508T>A (p.Phe1170Ile) c.3541T>A (p.Phe1181Ile) | |
3 | g.38566580G>A | CA72947623 | SCN5A | c.3666C>T (p.Ala1222=) c.3669C>T (p.Ala1223=) c.3507C>T (p.Ala1169=) c.3540C>T (p.Ala1180=) | dbSNP |
3 | g.38566580G>C | CA433136995 | SCN5A | c.3666C>G (p.Ala1222=) c.3669C>G (p.Ala1223=) c.3507C>G (p.Ala1169=) c.3540C>G (p.Ala1180=) | |
3 | g.38566580G= | CA1358569847 | SCN5A | c.3666C= (p.Ala1222=) c.3669C= (p.Ala1223=) c.3507C= (p.Ala1169=) c.3540C= (p.Ala1180=) | |
3 | g.38566580G>T | CA433136996 | SCN5A | c.3666C>A (p.Ala1222=) c.3669C>A (p.Ala1223=) c.3507C>A (p.Ala1169=) c.3540C>A (p.Ala1180=) | |
3 | g.38566581G>A | CA352149576 | SCN5A | c.3665C>T (p.Ala1222Val) c.3668C>T (p.Ala1223Val) c.3506C>T (p.Ala1169Val) c.3539C>T (p.Ala1180Val) | |
3 | g.38566581G>C | CA352149578 | SCN5A | c.3665C>G (p.Ala1222Gly) c.3668C>G (p.Ala1223Gly) c.3506C>G (p.Ala1169Gly) c.3539C>G (p.Ala1180Gly) | |
3 | g.38566581G>T | CA352149583 | SCN5A | c.3665C>A (p.Ala1222Asp) c.3668C>A (p.Ala1223Asp) c.3506C>A (p.Ala1169Asp) c.3539C>A (p.Ala1180Asp) | |
3 | g.38566582C>A | CA352149585 | SCN5A | c.3664G>T (p.Ala1222Ser) c.3667G>T (p.Ala1223Ser) c.3505G>T (p.Ala1169Ser) c.3538G>T (p.Ala1180Ser) | |
3 | g.38566582C= | CA1358569854 | SCN5A | c.3664G= (p.Ala1222=) c.3667G= (p.Ala1223=) c.3505G= (p.Ala1169=) c.3538G= (p.Ala1180=) | |
3 | g.38566582C>G | CA339598 | SCN5A | c.3664G>C (p.Ala1222Pro) c.3667G>C (p.Ala1223Pro) c.3505G>C (p.Ala1169Pro) c.3538G>C (p.Ala1180Pro) | ClinVar dbSNP |
3 | g.38566582C>T | CA352149589 | SCN5A | c.3664G>A (p.Ala1222Thr) c.3667G>A (p.Ala1223Thr) c.3505G>A (p.Ala1169Thr) c.3538G>A (p.Ala1180Thr) | |
3 | g.38566583del | CA2586972092 | SCN5A | c.3664del c.3667del c.3505del c.3538del |