Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38562448_38562449del | CA2586965794 | SCN5A | c.3928_3929del (p.Leu1310GlufsTer7) c.3931_3932del (p.Leu1311GlufsTer7) c.3769_3770del (p.Leu1257GlufsTer7) c.3802_3803del (p.Leu1268GlufsTer7) | |
3 | g.38562448A>C | CA433136458 | SCN5A | c.3927T>G (p.Pro1309=) c.3930T>G (p.Pro1310=) c.3768T>G (p.Pro1256=) c.3801T>G (p.Pro1267=) | |
3 | g.38562448A>G | CA433136459 | SCN5A | c.3927T>C (p.Pro1309=) c.3930T>C (p.Pro1310=) c.3768T>C (p.Pro1256=) c.3801T>C (p.Pro1267=) | |
3 | g.38562448A>T | CA433136460 | SCN5A | c.3927T>A (p.Pro1309=) c.3930T>A (p.Pro1310=) c.3768T>A (p.Pro1256=) c.3801T>A (p.Pro1267=) | |
3 | g.38562449G>A | CA352148121 | SCN5A | c.3926C>T (p.Pro1309Leu) c.3929C>T (p.Pro1310Leu) c.3767C>T (p.Pro1256Leu) c.3800C>T (p.Pro1267Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.38562449G>C | CA352148122 | SCN5A | c.3926C>G (p.Pro1309Arg) c.3929C>G (p.Pro1310Arg) c.3767C>G (p.Pro1256Arg) c.3800C>G (p.Pro1267Arg) | |
3 | g.38562449G= | CA1358566708 | SCN5A | c.3926C= (p.Pro1309=) c.3929C= (p.Pro1310=) c.3767C= (p.Pro1256=) c.3800C= (p.Pro1267=) | |
3 | g.38562449G>T | CA352148123 | SCN5A | c.3926C>A (p.Pro1309His) c.3929C>A (p.Pro1310His) c.3767C>A (p.Pro1256His) c.3800C>A (p.Pro1267His) | gnomAD v4 |
3 | g.38562450G>A | CA352148124 | SCN5A | c.3925C>T (p.Pro1309Ser) c.3928C>T (p.Pro1310Ser) c.3766C>T (p.Pro1256Ser) c.3799C>T (p.Pro1267Ser) | ClinVar dbSNP |
3 | g.38562450G>C | CA352148125 | SCN5A | c.3925C>G (p.Pro1309Ala) c.3928C>G (p.Pro1310Ala) c.3766C>G (p.Pro1256Ala) c.3799C>G (p.Pro1267Ala) | |
3 | g.38562450G= | CA1358566709 | SCN5A | c.3925C= (p.Pro1309=) c.3928C= (p.Pro1310=) c.3766C= (p.Pro1256=) c.3799C= (p.Pro1267=) | |
3 | g.38562450G>T | CA352148126 | SCN5A | c.3925C>A (p.Pro1309Thr) c.3928C>A (p.Pro1310Thr) c.3766C>A (p.Pro1256Thr) c.3799C>A (p.Pro1267Thr) | |
3 | g.38562451A>C | CA433136461 | SCN5A | c.3924T>G (p.Arg1308=) c.3927T>G (p.Arg1309=) c.3765T>G (p.Arg1255=) c.3798T>G (p.Arg1266=) | |
3 | g.38562451A>G | CA433136462 | SCN5A | c.3924T>C (p.Arg1308=) c.3927T>C (p.Arg1309=) c.3765T>C (p.Arg1255=) c.3798T>C (p.Arg1266=) | ClinVar dbSNP |
3 | g.38562451A>T | CA433136463 | SCN5A | c.3924T>A (p.Arg1308=) c.3927T>A (p.Arg1309=) c.3765T>A (p.Arg1255=) c.3798T>A (p.Arg1266=) | |
3 | g.38562452C>A | CA352148127 | SCN5A | c.3923G>T (p.Arg1308Leu) c.3926G>T (p.Arg1309Leu) c.3764G>T (p.Arg1255Leu) c.3797G>T (p.Arg1266Leu) | gnomAD v4 |
3 | g.38562452C= | CA1358566710 | SCN5A | c.3923G= (p.Arg1308=) c.3926G= (p.Arg1309=) c.3764G= (p.Arg1255=) c.3797G= (p.Arg1266=) | |
3 | g.38562452C>G | CA352148128 | SCN5A | c.3923G>C (p.Arg1308Pro) c.3926G>C (p.Arg1309Pro) c.3764G>C (p.Arg1255Pro) c.3797G>C (p.Arg1266Pro) | |
3 | g.38562452C>T | CA017632 | SCN5A | c.3923G>A (p.Arg1308His) c.3926G>A (p.Arg1309His) c.3764G>A (p.Arg1255His) c.3797G>A (p.Arg1266His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562453G>A | CA10588360 | SCN5A | c.3922C>T (p.Arg1308Cys) c.3925C>T (p.Arg1309Cys) c.3763C>T (p.Arg1255Cys) c.3796C>T (p.Arg1266Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562453G>C | CA352148130 | SCN5A | c.3922C>G (p.Arg1308Gly) c.3925C>G (p.Arg1309Gly) c.3763C>G (p.Arg1255Gly) c.3796C>G (p.Arg1266Gly) | |
3 | g.38562453G= | CA1358566711 | SCN5A | c.3922C= (p.Arg1308=) c.3925C= (p.Arg1309=) c.3763C= (p.Arg1255=) c.3796C= (p.Arg1266=) | |
3 | g.38562453G>T | CA352148129 | SCN5A | c.3922C>A (p.Arg1308Ser) c.3925C>A (p.Arg1309Ser) c.3763C>A (p.Arg1255Ser) c.3796C>A (p.Arg1266Ser) | COSMIC COSMIC COSMIC |
3 | g.38562454G>A | CA433136464 | SCN5A | c.3921C>T (p.Leu1307=) c.3924C>T (p.Leu1308=) c.3762C>T (p.Leu1254=) c.3795C>T (p.Leu1265=) | COSMIC COSMIC COSMIC |
3 | g.38562454G>C | CA433136465 | SCN5A | c.3921C>G (p.Leu1307=) c.3924C>G (p.Leu1308=) c.3762C>G (p.Leu1254=) c.3795C>G (p.Leu1265=) | ClinVar dbSNP |
3 | g.38562454G>T | CA433136466 | SCN5A | c.3921C>A (p.Leu1307=) c.3924C>A (p.Leu1308=) c.3762C>A (p.Leu1254=) c.3795C>A (p.Leu1265=) | COSMIC COSMIC COSMIC |
3 | g.38562455A>C | CA352148131 | SCN5A | c.3920T>G (p.Leu1307Arg) c.3923T>G (p.Leu1308Arg) c.3761T>G (p.Leu1254Arg) c.3794T>G (p.Leu1265Arg) | |
3 | g.38562455A>G | CA352148132 | SCN5A | c.3920T>C (p.Leu1307Pro) c.3923T>C (p.Leu1308Pro) c.3761T>C (p.Leu1254Pro) c.3794T>C (p.Leu1265Pro) | |
3 | g.38562455A>T | CA352148133 | SCN5A | c.3920T>A (p.Leu1307His) c.3923T>A (p.Leu1308His) c.3761T>A (p.Leu1254His) c.3794T>A (p.Leu1265His) | |
3 | g.38562456G>A | CA017626 | SCN5A | c.3919C>T (p.Leu1307Phe) c.3922C>T (p.Leu1308Phe) c.3760C>T (p.Leu1254Phe) c.3793C>T (p.Leu1265Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.[38562456G>A;38613752C>T] | CA085417 | SCN5A | c.[694G>A;3919C>T] (p.[Val232Ile;Leu1307Phe]) c.[694G>A;3922C>T] (p.[Val232Ile;Leu1308Phe]) c.[703+223G>A;3922C>T] (p.Leu1308Phe) c.[694G>A;3760C>T] (p.[Val232Ile;Leu1254Phe]) c.[703+223G>A;3760C>T] (p.Leu1254Phe) c.[703+223G>A;3919C>T] (p.Leu1307Phe) c.[565G>A;3793C>T] (p.[Val189Ile;Leu1265Phe]) | |
3 | g.38562456G>C | CA352148134 | SCN5A | c.3919C>G (p.Leu1307Val) c.3922C>G (p.Leu1308Val) c.3760C>G (p.Leu1254Val) c.3793C>G (p.Leu1265Val) | |
3 | g.38562456G= | CA1358566712 | SCN5A | c.3919C= (p.Leu1307=) c.3922C= (p.Leu1308=) c.3760C= (p.Leu1254=) c.3793C= (p.Leu1265=) | |
3 | g.38562456G>T | CA352148135 | SCN5A | c.3919C>A (p.Leu1307Ile) c.3922C>A (p.Leu1308Ile) c.3760C>A (p.Leu1254Ile) c.3793C>A (p.Leu1265Ile) | |
3 | g.38562457T>A | CA433136471 | SCN5A | c.3918A>T (p.Ala1306=) c.3921A>T (p.Ala1307=) c.3759A>T (p.Ala1253=) c.3792A>T (p.Ala1264=) | |
3 | g.38562457T>C | CA433136470 | SCN5A | c.3918A>G (p.Ala1306=) c.3921A>G (p.Ala1307=) c.3759A>G (p.Ala1253=) c.3792A>G (p.Ala1264=) | ClinVar |
3 | g.38562457T>G | CA433136469 | SCN5A | c.3918A>C (p.Ala1306=) c.3921A>C (p.Ala1307=) c.3759A>C (p.Ala1253=) c.3792A>C (p.Ala1264=) | |
3 | g.38562458G>A | CA352148138 | SCN5A | c.3917C>T (p.Ala1306Val) c.3920C>T (p.Ala1307Val) c.3758C>T (p.Ala1253Val) c.3791C>T (p.Ala1264Val) | |
3 | g.38562458G>C | CA352148136 | SCN5A | c.3917C>G (p.Ala1306Gly) c.3920C>G (p.Ala1307Gly) c.3758C>G (p.Ala1253Gly) c.3791C>G (p.Ala1264Gly) | |
3 | g.38562458G>T | CA352148137 | SCN5A | c.3917C>A (p.Ala1306Glu) c.3920C>A (p.Ala1307Glu) c.3758C>A (p.Ala1253Glu) c.3791C>A (p.Ala1264Glu) | |
3 | g.38562459C>A | CA352148139 | SCN5A | c.3916G>T (p.Ala1306Ser) c.3919G>T (p.Ala1307Ser) c.3757G>T (p.Ala1253Ser) c.3790G>T (p.Ala1264Ser) | |
3 | g.38562459C>G | CA352148140 | SCN5A | c.3916G>C (p.Ala1306Pro) c.3919G>C (p.Ala1307Pro) c.3757G>C (p.Ala1253Pro) c.3790G>C (p.Ala1264Pro) | |
3 | g.38562459C>T | CA352148141 | SCN5A | c.3916G>A (p.Ala1306Thr) c.3919G>A (p.Ala1307Thr) c.3757G>A (p.Ala1253Thr) c.3790G>A (p.Ala1264Thr) | |
3 | g.38562460A>C | CA433136474 | SCN5A | c.3915T>G (p.Arg1305=) c.3918T>G (p.Arg1306=) c.3756T>G (p.Arg1252=) c.3789T>G (p.Arg1263=) | |
3 | g.38562460A>G | CA433136473 | SCN5A | c.3915T>C (p.Arg1305=) c.3918T>C (p.Arg1306=) c.3756T>C (p.Arg1252=) c.3789T>C (p.Arg1263=) | |
3 | g.38562460A>T | CA433136472 | SCN5A | c.3915T>A (p.Arg1305=) c.3918T>A (p.Arg1306=) c.3756T>A (p.Arg1252=) c.3789T>A (p.Arg1263=) | |
3 | g.38562461C>A | CA352148142 | SCN5A | c.3914G>T (p.Arg1305Leu) c.3917G>T (p.Arg1306Leu) c.3755G>T (p.Arg1252Leu) c.3788G>T (p.Arg1263Leu) | ClinVar dbSNP |
3 | g.38562461C= | CA1358566713 | SCN5A | c.3914G= (p.Arg1305=) c.3917G= (p.Arg1306=) c.3755G= (p.Arg1252=) c.3788G= (p.Arg1263=) | |
3 | g.38562461C>G | CA352148143 | SCN5A | c.3914G>C (p.Arg1305Pro) c.3917G>C (p.Arg1306Pro) c.3755G>C (p.Arg1252Pro) c.3788G>C (p.Arg1263Pro) | |
3 | g.38562461C>T | CA017618 | SCN5A | c.3914G>A (p.Arg1305His) c.3917G>A (p.Arg1306His) c.3755G>A (p.Arg1252His) c.3788G>A (p.Arg1263His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562462G>A | CA352148144 | SCN5A | c.3913C>T (p.Arg1305Cys) c.3916C>T (p.Arg1306Cys) c.3754C>T (p.Arg1252Cys) c.3787C>T (p.Arg1263Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562462G>C | CA352148146 | SCN5A | c.3913C>G (p.Arg1305Gly) c.3916C>G (p.Arg1306Gly) c.3754C>G (p.Arg1252Gly) c.3787C>G (p.Arg1263Gly) | ClinVar dbSNP |
3 | g.38562462G= | CA1358566714 | SCN5A | c.3913C= (p.Arg1305=) c.3916C= (p.Arg1306=) c.3754C= (p.Arg1252=) c.3787C= (p.Arg1263=) | |
3 | g.38562462G>T | CA352148145 | SCN5A | c.3913C>A (p.Arg1305Ser) c.3916C>A (p.Arg1306Ser) c.3754C>A (p.Arg1252Ser) c.3787C>A (p.Arg1263Ser) | ClinVar dbSNP gnomAD v2 |
3 | g.38562463C>A | CA433136476 | SCN5A | c.3912G>T (p.Leu1304=) c.3915G>T (p.Leu1305=) c.3753G>T (p.Leu1251=) c.3786G>T (p.Leu1262=) | |
3 | g.38562463C= | CA1358566715 | SCN5A | c.3912G= (p.Leu1304=) c.3915G= (p.Leu1305=) c.3753G= (p.Leu1251=) c.3786G= (p.Leu1262=) | |
3 | g.38562463C>G | CA433136477 | SCN5A | c.3912G>C (p.Leu1304=) c.3915G>C (p.Leu1305=) c.3753G>C (p.Leu1251=) c.3786G>C (p.Leu1262=) | |
3 | g.38562463C>T | CA72945806 | SCN5A | c.3912G>A (p.Leu1304=) c.3915G>A (p.Leu1305=) c.3753G>A (p.Leu1251=) c.3786G>A (p.Leu1262=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562464A>C | CA352148147 | SCN5A | c.3911T>G (p.Leu1304Arg) c.3914T>G (p.Leu1305Arg) c.3752T>G (p.Leu1251Arg) c.3785T>G (p.Leu1262Arg) | |
3 | g.38562464A>G | CA352148148 | SCN5A | c.3911T>C (p.Leu1304Pro) c.3914T>C (p.Leu1305Pro) c.3752T>C (p.Leu1251Pro) c.3785T>C (p.Leu1262Pro) | gnomAD v4 |
3 | g.38562464A>T | CA352148149 | SCN5A | c.3911T>A (p.Leu1304Gln) c.3914T>A (p.Leu1305Gln) c.3752T>A (p.Leu1251Gln) c.3785T>A (p.Leu1262Gln) | |
3 | g.38562465G>A | CA433136478 | SCN5A | c.3910C>T (p.Leu1304=) c.3913C>T (p.Leu1305=) c.3751C>T (p.Leu1251=) c.3784C>T (p.Leu1262=) | ClinVar dbSNP |
3 | g.38562465G>C | CA352148150 | SCN5A | c.3910C>G (p.Leu1304Val) c.3913C>G (p.Leu1305Val) c.3751C>G (p.Leu1251Val) c.3784C>G (p.Leu1262Val) | |
3 | g.38562465G= | CA1358566716 | SCN5A | c.3910C= (p.Leu1304=) c.3913C= (p.Leu1305=) c.3751C= (p.Leu1251=) c.3784C= (p.Leu1262=) | |
3 | g.38562465G>T | CA352148151 | SCN5A | c.3910C>A (p.Leu1304Met) c.3913C>A (p.Leu1305Met) c.3751C>A (p.Leu1251Met) c.3784C>A (p.Leu1262Met) | |
3 | g.38562466C>A | CA433136480 | SCN5A | c.3909G>T (p.Thr1303=) c.3912G>T (p.Thr1304=) c.3750G>T (p.Thr1250=) c.3783G>T (p.Thr1261=) | |
3 | g.38562466C= | CA1358566717 | SCN5A | c.3909G= (p.Thr1303=) c.3912G= (p.Thr1304=) c.3750G= (p.Thr1250=) c.3783G= (p.Thr1261=) | |
3 | g.38562466C>G | CA433136481 | SCN5A | c.3909G>C (p.Thr1303=) c.3912G>C (p.Thr1304=) c.3750G>C (p.Thr1250=) c.3783G>C (p.Thr1261=) | |
3 | g.38562466C>T | CA062447 | SCN5A | c.3909G>A (p.Thr1303=) c.3912G>A (p.Thr1304=) c.3750G>A (p.Thr1250=) c.3783G>A (p.Thr1261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38562467G>A | CA017612 | SCN5A | c.3908C>T (p.Thr1303Met) c.3911C>T (p.Thr1304Met) c.3749C>T (p.Thr1250Met) c.3782C>T (p.Thr1261Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562467G>C | CA352148152 | SCN5A | c.3908C>G (p.Thr1303Arg) c.3911C>G (p.Thr1304Arg) c.3749C>G (p.Thr1250Arg) c.3782C>G (p.Thr1261Arg) | |
3 | g.38562467G= | CA1358566718 | SCN5A | c.3908C= (p.Thr1303=) c.3911C= (p.Thr1304=) c.3749C= (p.Thr1250=) c.3782C= (p.Thr1261=) | |
3 | g.38562467G>T | CA352148153 | SCN5A | c.3908C>A (p.Thr1303Lys) c.3911C>A (p.Thr1304Lys) c.3749C>A (p.Thr1250Lys) c.3782C>A (p.Thr1261Lys) | |
3 | g.38562468T>A | CA352148154 | SCN5A | c.3907A>T (p.Thr1303Ser) c.3910A>T (p.Thr1304Ser) c.3748A>T (p.Thr1250Ser) c.3781A>T (p.Thr1261Ser) | |
3 | g.38562468T>C | CA352148155 | SCN5A | c.3907A>G (p.Thr1303Ala) c.3910A>G (p.Thr1304Ala) c.3748A>G (p.Thr1250Ala) c.3781A>G (p.Thr1261Ala) | |
3 | g.38562468T>G | CA352148156 | SCN5A | c.3907A>C (p.Thr1303Pro) c.3910A>C (p.Thr1304Pro) c.3748A>C (p.Thr1250Pro) c.3781A>C (p.Thr1261Pro) | |
3 | g.38562469C>A | CA433136482 | SCN5A | c.3906G>T (p.Arg1302=) c.3909G>T (p.Arg1303=) c.3747G>T (p.Arg1249=) c.3780G>T (p.Arg1260=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562469C= | CA1358566719 | SCN5A | c.3906G= (p.Arg1302=) c.3909G= (p.Arg1303=) c.3747G= (p.Arg1249=) c.3780G= (p.Arg1260=) | |
3 | g.38562469C>G | CA433136484 | SCN5A | c.3906G>C (p.Arg1302=) c.3909G>C (p.Arg1303=) c.3747G>C (p.Arg1249=) c.3780G>C (p.Arg1260=) | |
3 | g.38562469C>T | CA433136486 | SCN5A | c.3906G>A (p.Arg1302=) c.3909G>A (p.Arg1303=) c.3747G>A (p.Arg1249=) c.3780G>A (p.Arg1260=) | gnomAD v4 |
3 | g.38562470C>A | CA352148157 | SCN5A | c.3905G>T (p.Arg1302Leu) c.3908G>T (p.Arg1303Leu) c.3746G>T (p.Arg1249Leu) c.3779G>T (p.Arg1260Leu) | |
3 | g.38562470C= | CA1358566720 | SCN5A | c.3905G= (p.Arg1302=) c.3908G= (p.Arg1303=) c.3746G= (p.Arg1249=) c.3779G= (p.Arg1260=) | |
3 | g.38562470C>G | CA352148158 | SCN5A | c.3905G>C (p.Arg1302Pro) c.3908G>C (p.Arg1303Pro) c.3746G>C (p.Arg1249Pro) c.3779G>C (p.Arg1260Pro) | |
3 | g.38562470C>T | CA16042517 | SCN5A | c.3905G>A (p.Arg1302Gln) c.3908G>A (p.Arg1303Gln) c.3746G>A (p.Arg1249Gln) c.3779G>A (p.Arg1260Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38562471G>A | CA72945821 | SCN5A | c.3904C>T (p.Arg1302Trp) c.3907C>T (p.Arg1303Trp) c.3745C>T (p.Arg1249Trp) c.3778C>T (p.Arg1260Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562471G>C | CA352148159 | SCN5A | c.3904C>G (p.Arg1302Gly) c.3907C>G (p.Arg1303Gly) c.3745C>G (p.Arg1249Gly) c.3778C>G (p.Arg1260Gly) | |
3 | g.38562471G= | CA1358566721 | SCN5A | c.3904C= (p.Arg1302=) c.3907C= (p.Arg1303=) c.3745C= (p.Arg1249=) c.3778C= (p.Arg1260=) | |
3 | g.38562471G>T | CA017605 | SCN5A | c.3904C>A (p.Arg1302=) c.3907C>A (p.Arg1303=) c.3745C>A (p.Arg1249=) c.3778C>A (p.Arg1260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38562472C>A | CA433136487 | SCN5A | c.3903G>T (p.Leu1301=) c.3906G>T (p.Leu1302=) c.3744G>T (p.Leu1248=) c.3777G>T (p.Leu1259=) | |
3 | g.38562472C>G | CA433136488 | SCN5A | c.3903G>C (p.Leu1301=) c.3906G>C (p.Leu1302=) c.3744G>C (p.Leu1248=) c.3777G>C (p.Leu1259=) | |
3 | g.38562472C>T | CA433136489 | SCN5A | c.3903G>A (p.Leu1301=) c.3906G>A (p.Leu1302=) c.3744G>A (p.Leu1248=) c.3777G>A (p.Leu1259=) | |
3 | g.38562473A>C | CA352148160 | SCN5A | c.3902T>G (p.Leu1301Arg) c.3905T>G (p.Leu1302Arg) c.3743T>G (p.Leu1248Arg) c.3776T>G (p.Leu1259Arg) | |
3 | g.38562473A>G | CA352148161 | SCN5A | c.3902T>C (p.Leu1301Pro) c.3905T>C (p.Leu1302Pro) c.3743T>C (p.Leu1248Pro) c.3776T>C (p.Leu1259Pro) | ClinVar |
3 | g.38562473A>T | CA352148162 | SCN5A | c.3902T>A (p.Leu1301Gln) c.3905T>A (p.Leu1302Gln) c.3743T>A (p.Leu1248Gln) c.3776T>A (p.Leu1259Gln) | |
3 | g.38562474G>A | CA433136491 | SCN5A | c.3901C>T (p.Leu1301=) c.3904C>T (p.Leu1302=) c.3742C>T (p.Leu1248=) c.3775C>T (p.Leu1259=) | |
3 | g.38562474G>C | CA352148163 | SCN5A | c.3901C>G (p.Leu1301Val) c.3904C>G (p.Leu1302Val) c.3742C>G (p.Leu1248Val) c.3775C>G (p.Leu1259Val) | |
3 | g.38562474G>T | CA352148164 | SCN5A | c.3901C>A (p.Leu1301Met) c.3904C>A (p.Leu1302Met) c.3742C>A (p.Leu1248Met) c.3775C>A (p.Leu1259Met) | |
3 | g.38562475T>A | CA433136494 | SCN5A | c.3900A>T (p.Ser1300=) c.3903A>T (p.Ser1301=) c.3741A>T (p.Ser1247=) c.3774A>T (p.Ser1258=) | |
3 | g.38562475T>C | CA433136495 | SCN5A | c.3900A>G (p.Ser1300=) c.3903A>G (p.Ser1301=) c.3741A>G (p.Ser1247=) c.3774A>G (p.Ser1258=) | |
3 | g.38562475T>G | CA433136496 | SCN5A | c.3900A>C (p.Ser1300=) c.3903A>C (p.Ser1301=) c.3741A>C (p.Ser1247=) c.3774A>C (p.Ser1258=) | |
3 | g.38562476_38562479dup | CA2586965802 | SCN5A | c.3897_3900dup (p.Leu1301ValfsTer18) c.3900_3903dup (p.Leu1302ValfsTer18) c.3738_3741dup (p.Leu1248ValfsTer18) c.3771_3774dup (p.Leu1259ValfsTer18) | |
3 | g.38562476G>A | CA352148165 | SCN5A | c.3899C>T (p.Ser1300Leu) c.3902C>T (p.Ser1301Leu) c.3740C>T (p.Ser1247Leu) c.3773C>T (p.Ser1258Leu) | |
3 | g.38562476G>C | CA352148166 | SCN5A | c.3899C>G (p.Ser1300Ter) c.3902C>G (p.Ser1301Ter) c.3740C>G (p.Ser1247Ter) c.3773C>G (p.Ser1258Ter) | |
3 | g.38562476G>T | CA352148167 | SCN5A | c.3899C>A (p.Ser1300Ter) c.3902C>A (p.Ser1301Ter) c.3740C>A (p.Ser1247Ter) c.3773C>A (p.Ser1258Ter) | |
3 | g.38562476_38562477delinsGA | CA1358566722 | SCN5A | c.3898_3899delinsTC (p.Ser1300=) c.3901_3902delinsTC (p.Ser1301=) c.3739_3740delinsTC (p.Ser1247=) c.3772_3773delinsTC (p.Ser1258=) | |
3 | g.38562477del | CA1139657975 | SCN5A | c.3898del (p.Ser1300HisfsTer11) c.3901del (p.Ser1301HisfsTer11) c.3739del (p.Ser1247HisfsTer11) c.3772del (p.Ser1258HisfsTer11) | ClinVar dbSNP |
3 | g.38562477A>C | CA352148168 | SCN5A | c.3898T>G (p.Ser1300Ala) c.3901T>G (p.Ser1301Ala) c.3739T>G (p.Ser1247Ala) c.3772T>G (p.Ser1258Ala) | gnomAD v4 |
3 | g.38562477A>G | CA352148169 | SCN5A | c.3898T>C (p.Ser1300Pro) c.3901T>C (p.Ser1301Pro) c.3739T>C (p.Ser1247Pro) c.3772T>C (p.Ser1258Pro) | |
3 | g.38562477A>T | CA352148170 | SCN5A | c.3898T>A (p.Ser1300Thr) c.3901T>A (p.Ser1301Thr) c.3739T>A (p.Ser1247Thr) c.3772T>A (p.Ser1258Thr) | |
3 | g.38562478C>A | CA352148171 | SCN5A | c.3897G>T (p.Lys1299Asn) c.3900G>T (p.Lys1300Asn) c.3738G>T (p.Lys1246Asn) c.3771G>T (p.Lys1257Asn) | |
3 | g.38562478C= | CA1358566723 | SCN5A | c.3897G= (p.Lys1299=) c.3900G= (p.Lys1300=) c.3738G= (p.Lys1246=) c.3771G= (p.Lys1257=) | |
3 | g.38562478C>G | CA352148172 | SCN5A | c.3897G>C (p.Lys1299Asn) c.3900G>C (p.Lys1300Asn) c.3738G>C (p.Lys1246Asn) c.3771G>C (p.Lys1257Asn) | |
3 | g.38562478C>T | CA433136497 | SCN5A | c.3897G>A (p.Lys1299=) c.3900G>A (p.Lys1300=) c.3738G>A (p.Lys1246=) c.3771G>A (p.Lys1257=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562479T>A | CA352148173 | SCN5A | c.3896A>T (p.Lys1299Met) c.3899A>T (p.Lys1300Met) c.3737A>T (p.Lys1246Met) c.3770A>T (p.Lys1257Met) | |
3 | g.38562479T>C | CA352148174 | SCN5A | c.3896A>G (p.Lys1299Arg) c.3899A>G (p.Lys1300Arg) c.3737A>G (p.Lys1246Arg) c.3770A>G (p.Lys1257Arg) | |
3 | g.38562479T>G | CA352148175 | SCN5A | c.3896A>C (p.Lys1299Thr) c.3899A>C (p.Lys1300Thr) c.3737A>C (p.Lys1246Thr) c.3770A>C (p.Lys1257Thr) | |
3 | g.38562480T>A | CA352148176 | SCN5A | c.3895A>T (p.Lys1299Ter) c.3898A>T (p.Lys1300Ter) c.3736A>T (p.Lys1246Ter) c.3769A>T (p.Lys1257Ter) | dbSNP |
3 | g.38562480T>C | CA352148177 | SCN5A | c.3895A>G (p.Lys1299Glu) c.3898A>G (p.Lys1300Glu) c.3736A>G (p.Lys1246Glu) c.3769A>G (p.Lys1257Glu) | |
3 | g.38562480T>G | CA352148178 | SCN5A | c.3895A>C (p.Lys1299Gln) c.3898A>C (p.Lys1300Gln) c.3736A>C (p.Lys1246Gln) c.3769A>C (p.Lys1257Gln) | |
3 | g.38562480T= | CA1358566724 | SCN5A | c.3895A= (p.Lys1299=) c.3898A= (p.Lys1300=) c.3736A= (p.Lys1246=) c.3769A= (p.Lys1257=) | |
3 | g.38562481G>A | CA433136499 | SCN5A | c.3894C>T (p.Ile1298=) c.3897C>T (p.Ile1299=) c.3735C>T (p.Ile1245=) c.3768C>T (p.Ile1256=) | ClinVar dbSNP |
3 | g.38562481G>C | CA352148179 | SCN5A | c.3894C>G (p.Ile1298Met) c.3897C>G (p.Ile1299Met) c.3735C>G (p.Ile1245Met) c.3768C>G (p.Ile1256Met) | ClinVar dbSNP |
3 | g.38562481G= | CA1358566725 | SCN5A | c.3894C= (p.Ile1298=) c.3897C= (p.Ile1299=) c.3735C= (p.Ile1245=) c.3768C= (p.Ile1256=) | |
3 | g.38562481G>T | CA433136500 | SCN5A | c.3894C>A (p.Ile1298=) c.3897C>A (p.Ile1299=) c.3735C>A (p.Ile1245=) c.3768C>A (p.Ile1256=) | |
3 | g.38562482A>C | CA352148180 | SCN5A | c.3893T>G (p.Ile1298Ser) c.3896T>G (p.Ile1299Ser) c.3734T>G (p.Ile1245Ser) c.3767T>G (p.Ile1256Ser) | |
3 | g.38562482A>G | CA352148181 | SCN5A | c.3893T>C (p.Ile1298Thr) c.3896T>C (p.Ile1299Thr) c.3734T>C (p.Ile1245Thr) c.3767T>C (p.Ile1256Thr) | |
3 | g.38562482A>T | CA352148182 | SCN5A | c.3893T>A (p.Ile1298Asn) c.3896T>A (p.Ile1299Asn) c.3734T>A (p.Ile1245Asn) c.3767T>A (p.Ile1256Asn) | |
3 | g.38562483T>A | CA352148183 | SCN5A | c.3892A>T (p.Ile1298Phe) c.3895A>T (p.Ile1299Phe) c.3733A>T (p.Ile1245Phe) c.3766A>T (p.Ile1256Phe) | |
3 | g.38562483T>C | CA352148184 | SCN5A | c.3892A>G (p.Ile1298Val) c.3895A>G (p.Ile1299Val) c.3733A>G (p.Ile1245Val) c.3766A>G (p.Ile1256Val) | |
3 | g.38562483T>G | CA352148185 | SCN5A | c.3892A>C (p.Ile1298Leu) c.3895A>C (p.Ile1299Leu) c.3733A>C (p.Ile1245Leu) c.3766A>C (p.Ile1256Leu) | |
3 | g.38562484G>A | CA433136507 | SCN5A | c.3891C>T (p.Pro1297=) c.3894C>T (p.Pro1298=) c.3732C>T (p.Pro1244=) c.3765C>T (p.Pro1255=) | gnomAD v4 |
3 | g.38562484G>C | CA433136504 | SCN5A | c.3891C>G (p.Pro1297=) c.3894C>G (p.Pro1298=) c.3732C>G (p.Pro1244=) c.3765C>G (p.Pro1255=) | |
3 | g.38562484G>T | CA433136506 | SCN5A | c.3891C>A (p.Pro1297=) c.3894C>A (p.Pro1298=) c.3732C>A (p.Pro1244=) c.3765C>A (p.Pro1255=) | |
3 | g.38562487dup | CA2580069763 | SCN5A | c.3891dup (p.Ile1298HisfsTer20) c.3894dup (p.Ile1299HisfsTer20) c.3732dup (p.Ile1245HisfsTer20) c.3765dup (p.Ile1256HisfsTer20) | ClinVar |
3 | g.38562487del | CA2586965804 | SCN5A | c.3891del (p.Ile1298SerfsTer13) c.3894del (p.Ile1299SerfsTer13) c.3732del (p.Ile1245SerfsTer13) c.3765del (p.Ile1256SerfsTer13) | |
3 | g.38562485G>A | CA017599 | SCN5A | c.3890C>T (p.Pro1297Leu) c.3893C>T (p.Pro1298Leu) c.3731C>T (p.Pro1244Leu) c.3764C>T (p.Pro1255Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38562485G>C | CA352148187 | SCN5A | c.3890C>G (p.Pro1297Arg) c.3893C>G (p.Pro1298Arg) c.3731C>G (p.Pro1244Arg) c.3764C>G (p.Pro1255Arg) | |
3 | g.38562485G= | CA1358566726 | SCN5A | c.3890C= (p.Pro1297=) c.3893C= (p.Pro1298=) c.3731C= (p.Pro1244=) c.3764C= (p.Pro1255=) | |
3 | g.38562485G>T | CA352148186 | SCN5A | c.3890C>A (p.Pro1297His) c.3893C>A (p.Pro1298His) c.3731C>A (p.Pro1244His) c.3764C>A (p.Pro1255His) | COSMIC COSMIC COSMIC |
3 | g.38562486G>A | CA352148189 | SCN5A | c.3889C>T (p.Pro1297Ser) c.3892C>T (p.Pro1298Ser) c.3730C>T (p.Pro1244Ser) c.3763C>T (p.Pro1255Ser) | gnomAD v4 |
3 | g.38562486G>C | CA352148188 | SCN5A | c.3889C>G (p.Pro1297Ala) c.3892C>G (p.Pro1298Ala) c.3730C>G (p.Pro1244Ala) c.3763C>G (p.Pro1255Ala) | |
3 | g.38562486G>T | CA352148190 | SCN5A | c.3889C>A (p.Pro1297Thr) c.3892C>A (p.Pro1298Thr) c.3730C>A (p.Pro1244Thr) c.3763C>A (p.Pro1255Thr) | |
3 | g.38562487G>A | CA72945833 | SCN5A | c.3888C>T (p.Gly1296=) c.3891C>T (p.Gly1297=) c.3729C>T (p.Gly1243=) c.3762C>T (p.Gly1254=) | ClinVar dbSNP gnomAD v4 |
3 | g.38562487G>C | CA433136508 | SCN5A | c.3888C>G (p.Gly1296=) c.3891C>G (p.Gly1297=) c.3729C>G (p.Gly1243=) c.3762C>G (p.Gly1254=) | |
3 | g.38562487G= | CA1358566727 | SCN5A | c.3888C= (p.Gly1296=) c.3891C= (p.Gly1297=) c.3729C= (p.Gly1243=) c.3762C= (p.Gly1254=) | |
3 | g.38562487G>T | CA433136509 | SCN5A | c.3888C>A (p.Gly1296=) c.3891C>A (p.Gly1297=) c.3729C>A (p.Gly1243=) c.3762C>A (p.Gly1254=) | COSMIC |
3 | g.38562487_38562488insT | CA2586965807 | SCN5A | c.3887_3888insA (p.Ile1298HisfsTer20) c.3890_3891insA (p.Ile1299HisfsTer20) c.3728_3729insA (p.Ile1245HisfsTer20) c.3761_3762insA (p.Ile1256HisfsTer20) | |
3 | g.38562488C>A | CA352148193 | SCN5A | c.3887G>T (p.Gly1296Val) c.3890G>T (p.Gly1297Val) c.3728G>T (p.Gly1243Val) c.3761G>T (p.Gly1254Val) | COSMIC COSMIC COSMIC |
3 | g.38562488C= | CA1358566728 | SCN5A | c.3887G= (p.Gly1296=) c.3890G= (p.Gly1297=) c.3728G= (p.Gly1243=) c.3761G= (p.Gly1254=) | |
3 | g.38562488C>G | CA352148191 | SCN5A | c.3887G>C (p.Gly1296Ala) c.3890G>C (p.Gly1297Ala) c.3728G>C (p.Gly1243Ala) c.3761G>C (p.Gly1254Ala) | |
3 | g.38562488C>T | CA352148192 | SCN5A | c.3887G>A (p.Gly1296Asp) c.3890G>A (p.Gly1297Asp) c.3728G>A (p.Gly1243Asp) c.3761G>A (p.Gly1254Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562489C>A | CA352148194 | SCN5A | c.3886G>T (p.Gly1296Cys) c.3889G>T (p.Gly1297Cys) c.3727G>T (p.Gly1243Cys) c.3760G>T (p.Gly1254Cys) | |
3 | g.38562489C>G | CA352148195 | SCN5A | c.3886G>C (p.Gly1296Arg) c.3889G>C (p.Gly1297Arg) c.3727G>C (p.Gly1243Arg) c.3760G>C (p.Gly1254Arg) | |
3 | g.38562489C>T | CA352148196 | SCN5A | c.3886G>A (p.Gly1296Ser) c.3889G>A (p.Gly1297Ser) c.3727G>A (p.Gly1243Ser) c.3760G>A (p.Gly1254Ser) | |
3 | g.38562490C>A | CA352148197 | SCN5A | c.3885G>T (p.Met1295Ile) c.3888G>T (p.Met1296Ile) c.3726G>T (p.Met1242Ile) c.3759G>T (p.Met1253Ile) | |
3 | g.38562490C= | CA1358566729 | SCN5A | c.3885G= (p.Met1295=) c.3888G= (p.Met1296=) c.3726G= (p.Met1242=) c.3759G= (p.Met1253=) | |
3 | g.38562490C>G | CA352148198 | SCN5A | c.3885G>C (p.Met1295Ile) c.3888G>C (p.Met1296Ile) c.3726G>C (p.Met1242Ile) c.3759G>C (p.Met1253Ile) | |
3 | g.38562490C>T | CA352148199 | SCN5A | c.3885G>A (p.Met1295Ile) c.3888G>A (p.Met1296Ile) c.3726G>A (p.Met1242Ile) c.3759G>A (p.Met1253Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38562491A= | CA1358566730 | SCN5A | c.3884T= (p.Met1295=) c.3887T= (p.Met1296=) c.3725T= (p.Met1242=) c.3758T= (p.Met1253=) | |
3 | g.38562491A>C | CA352148200 | SCN5A | c.3884T>G (p.Met1295Arg) c.3887T>G (p.Met1296Arg) c.3725T>G (p.Met1242Arg) c.3758T>G (p.Met1253Arg) | |
3 | g.38562491A>G | CA062435 | SCN5A | c.3884T>C (p.Met1295Thr) c.3887T>C (p.Met1296Thr) c.3725T>C (p.Met1242Thr) c.3758T>C (p.Met1253Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562491A>T | CA352148201 | SCN5A | c.3884T>A (p.Met1295Lys) c.3887T>A (p.Met1296Lys) c.3725T>A (p.Met1242Lys) c.3758T>A (p.Met1253Lys) | |
3 | g.38562491dup | CA2586965809 | SCN5A | c.3884dup (p.Met1295IlefsTer23) c.3887dup (p.Met1296IlefsTer23) c.3725dup (p.Met1242IlefsTer23) c.3758dup (p.Met1253IlefsTer23) | |
3 | g.38562492T>A | CA352148202 | SCN5A | c.3883A>T (p.Met1295Leu) c.3886A>T (p.Met1296Leu) c.3724A>T (p.Met1242Leu) c.3757A>T (p.Met1253Leu) | ClinVar gnomAD v4 |
3 | g.38562492T>C | CA352148203 | SCN5A | c.3883A>G (p.Met1295Val) c.3886A>G (p.Met1296Val) c.3724A>G (p.Met1242Val) c.3757A>G (p.Met1253Val) | |
3 | g.38562492T>G | CA352148204 | SCN5A | c.3883A>C (p.Met1295Leu) c.3886A>C (p.Met1296Leu) c.3724A>C (p.Met1242Leu) c.3757A>C (p.Met1253Leu) | |
3 | g.38562493C>A | CA352148205 | SCN5A | c.3882G>T (p.Glu1294Asp) c.3885G>T (p.Glu1295Asp) c.3723G>T (p.Glu1241Asp) c.3756G>T (p.Glu1252Asp) | |
3 | g.38562493C= | CA1358566731 | SCN5A | c.3882G= (p.Glu1294=) c.3885G= (p.Glu1295=) c.3723G= (p.Glu1241=) c.3756G= (p.Glu1252=) | |
3 | g.38562493C>G | CA352148206 | SCN5A | c.3882G>C (p.Glu1294Asp) c.3885G>C (p.Glu1295Asp) c.3723G>C (p.Glu1241Asp) c.3756G>C (p.Glu1252Asp) | |
3 | g.38562493C>T | CA433136511 | SCN5A | c.3882G>A (p.Glu1294=) c.3885G>A (p.Glu1295=) c.3723G>A (p.Glu1241=) c.3756G>A (p.Glu1252=) | ClinVar dbSNP gnomAD v4 |
3 | g.38562494T>A | CA352148207 | SCN5A | c.3881A>T (p.Glu1294Val) c.3884A>T (p.Glu1295Val) c.3722A>T (p.Glu1241Val) c.3755A>T (p.Glu1252Val) | |
3 | g.38562494T>C | CA352148208 | SCN5A | c.3881A>G (p.Glu1294Gly) c.3884A>G (p.Glu1295Gly) c.3722A>G (p.Glu1241Gly) c.3755A>G (p.Glu1252Gly) | |
3 | g.38562494T>G | CA352148209 | SCN5A | c.3881A>C (p.Glu1294Ala) c.3884A>C (p.Glu1295Ala) c.3722A>C (p.Glu1241Ala) c.3755A>C (p.Glu1252Ala) | |
3 | g.38562495C>A | CA352148210 | SCN5A | c.3880G>T (p.Glu1294Ter) c.3883G>T (p.Glu1295Ter) c.3721G>T (p.Glu1241Ter) c.3754G>T (p.Glu1252Ter) | dbSNP |
3 | g.38562495C= | CA1358566732 | SCN5A | c.3880G= (p.Glu1294=) c.3883G= (p.Glu1295=) c.3721G= (p.Glu1241=) c.3754G= (p.Glu1252=) | |
3 | g.38562495C>G | CA352148211 | SCN5A | c.3880G>C (p.Glu1294Gln) c.3883G>C (p.Glu1295Gln) c.3721G>C (p.Glu1241Gln) c.3754G>C (p.Glu1252Gln) | |
3 | g.38562495C>T | CA017593 | SCN5A | c.3880G>A (p.Glu1294Lys) c.3883G>A (p.Glu1295Lys) c.3721G>A (p.Glu1241Lys) c.3754G>A (p.Glu1252Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38562496G>A | CA017587 | SCN5A | c.3879C>T (p.Ala1293=) c.3882C>T (p.Ala1294=) c.3720C>T (p.Ala1240=) c.3753C>T (p.Ala1251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562496G>C | CA433136513 | SCN5A | c.3879C>G (p.Ala1293=) c.3882C>G (p.Ala1294=) c.3720C>G (p.Ala1240=) c.3753C>G (p.Ala1251=) | |
3 | g.38562496G= | CA1358566733 | SCN5A | c.3879C= (p.Ala1293=) c.3882C= (p.Ala1294=) c.3720C= (p.Ala1240=) c.3753C= (p.Ala1251=) | |
3 | g.38562496G>T | CA72945857 | SCN5A | c.3879C>A (p.Ala1293=) c.3882C>A (p.Ala1294=) c.3720C>A (p.Ala1240=) c.3753C>A (p.Ala1251=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38562497G>A | CA352148212 | SCN5A | c.3878C>T (p.Ala1293Val) c.3881C>T (p.Ala1294Val) c.3719C>T (p.Ala1240Val) c.3752C>T (p.Ala1251Val) | gnomAD v4 |
3 | g.38562497G>C | CA062420 | SCN5A | c.3878C>G (p.Ala1293Gly) c.3881C>G (p.Ala1294Gly) c.3719C>G (p.Ala1240Gly) c.3752C>G (p.Ala1251Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562497G= | CA1358566734 | SCN5A | c.3878C= (p.Ala1293=) c.3881C= (p.Ala1294=) c.3719C= (p.Ala1240=) c.3752C= (p.Ala1251=) | |
3 | g.38562497G>T | CA72945858 | SCN5A | c.3878C>A (p.Ala1293Asp) c.3881C>A (p.Ala1294Asp) c.3719C>A (p.Ala1240Asp) c.3752C>A (p.Ala1251Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38562498C>A | CA352148213 | SCN5A | c.3877G>T (p.Ala1293Ser) c.3880G>T (p.Ala1294Ser) c.3718G>T (p.Ala1240Ser) c.3751G>T (p.Ala1251Ser) | |
3 | g.38562498C>G | CA352148214 | SCN5A | c.3877G>C (p.Ala1293Pro) c.3880G>C (p.Ala1294Pro) c.3718G>C (p.Ala1240Pro) c.3751G>C (p.Ala1251Pro) | gnomAD v4 |
3 | g.38562498C>T | CA352148215 | SCN5A | c.3877G>A (p.Ala1293Thr) c.3880G>A (p.Ala1294Thr) c.3718G>A (p.Ala1240Thr) c.3751G>A (p.Ala1251Thr) | ClinVar |
3 | g.38562499A>C | CA352148216 | SCN5A | c.3876T>G (p.Phe1292Leu) c.3879T>G (p.Phe1293Leu) c.3717T>G (p.Phe1239Leu) c.3750T>G (p.Phe1250Leu) | |
3 | g.38562499A>G | CA433136515 | SCN5A | c.3876T>C (p.Phe1292=) c.3879T>C (p.Phe1293=) c.3717T>C (p.Phe1239=) c.3750T>C (p.Phe1250=) | |
3 | g.38562499A>T | CA352148217 | SCN5A | c.3876T>A (p.Phe1292Leu) c.3879T>A (p.Phe1293Leu) c.3717T>A (p.Phe1239Leu) c.3750T>A (p.Phe1250Leu) | |
3 | g.38562500A= | CA1358566735 | SCN5A | c.3875T= (p.Phe1292=) c.3878T= (p.Phe1293=) c.3716T= (p.Phe1239=) c.3749T= (p.Phe1250=) | |
3 | g.38562500A>C | CA352148218 | SCN5A | c.3875T>G (p.Phe1292Cys) c.3878T>G (p.Phe1293Cys) c.3716T>G (p.Phe1239Cys) c.3749T>G (p.Phe1250Cys) | |
3 | g.38562500A>G | CA017579 | SCN5A | c.3875T>C (p.Phe1292Ser) c.3878T>C (p.Phe1293Ser) c.3716T>C (p.Phe1239Ser) c.3749T>C (p.Phe1250Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562500A>T | CA352148219 | SCN5A | c.3875T>A (p.Phe1292Tyr) c.3878T>A (p.Phe1293Tyr) c.3716T>A (p.Phe1239Tyr) c.3749T>A (p.Phe1250Tyr) | |
3 | g.38562501A>C | CA352148220 | SCN5A | c.3874T>G (p.Phe1292Val) c.3877T>G (p.Phe1293Val) c.3715T>G (p.Phe1239Val) c.3748T>G (p.Phe1250Val) | |
3 | g.38562501A>G | CA352148221 | SCN5A | c.3874T>C (p.Phe1292Leu) c.3877T>C (p.Phe1293Leu) c.3715T>C (p.Phe1239Leu) c.3748T>C (p.Phe1250Leu) | |
3 | g.38562501A>T | CA352148222 | SCN5A | c.3874T>A (p.Phe1292Ile) c.3877T>A (p.Phe1293Ile) c.3715T>A (p.Phe1239Ile) c.3748T>A (p.Phe1250Ile) | |
3 | g.38562501_38562502delinsAG | CA1358566736 | SCN5A | c.3873_3874delinsCT (p.Gly1291=) c.3876_3877delinsCT (p.Gly1292=) c.3714_3715delinsCT (p.Gly1238=) c.3747_3748delinsCT (p.Gly1249=) | |
3 | g.38562502del | CA658657283 | SCN5A | c.3873del (p.Phe1292LeufsTer19) c.3876del (p.Phe1293LeufsTer19) c.3714del (p.Phe1239LeufsTer19) c.3747del (p.Phe1250LeufsTer19) | ClinVar dbSNP |
3 | g.38562502G>A | CA433136518 | SCN5A | c.3873C>T (p.Gly1291=) c.3876C>T (p.Gly1292=) c.3714C>T (p.Gly1238=) c.3747C>T (p.Gly1249=) | |
3 | g.38562502G>C | CA433136519 | SCN5A | c.3873C>G (p.Gly1291=) c.3876C>G (p.Gly1292=) c.3714C>G (p.Gly1238=) c.3747C>G (p.Gly1249=) | ClinVar dbSNP |
3 | g.38562502G= | CA1358566737 | SCN5A | c.3873C= (p.Gly1291=) c.3876C= (p.Gly1292=) c.3714C= (p.Gly1238=) c.3747C= (p.Gly1249=) | |
3 | g.38562502G>T | CA433136521 | SCN5A | c.3873C>A (p.Gly1291=) c.3876C>A (p.Gly1292=) c.3714C>A (p.Gly1238=) c.3747C>A (p.Gly1249=) | |
3 | g.38562503C>A | CA352148223 | SCN5A | c.3872G>T (p.Gly1291Val) c.3875G>T (p.Gly1292Val) c.3713G>T (p.Gly1238Val) c.3746G>T (p.Gly1249Val) | |
3 | g.38562503C= | CA1358566738 | SCN5A | c.3872G= (p.Gly1291=) c.3875G= (p.Gly1292=) c.3713G= (p.Gly1238=) c.3746G= (p.Gly1249=) | |
3 | g.38562503C>G | CA352148224 | SCN5A | c.3872G>C (p.Gly1291Ala) c.3875G>C (p.Gly1292Ala) c.3713G>C (p.Gly1238Ala) c.3746G>C (p.Gly1249Ala) | ClinVar dbSNP |
3 | g.38562503C>T | CA352148225 | SCN5A | c.3872G>A (p.Gly1291Asp) c.3875G>A (p.Gly1292Asp) c.3713G>A (p.Gly1238Asp) c.3746G>A (p.Gly1249Asp) | |
3 | g.38562504C>A | CA352148226 | SCN5A | c.3871G>T (p.Gly1291Cys) c.3874G>T (p.Gly1292Cys) c.3712G>T (p.Gly1238Cys) c.3745G>T (p.Gly1249Cys) | |
3 | g.38562504C= | CA1358566739 | SCN5A | c.3871G= (p.Gly1291=) c.3874G= (p.Gly1292=) c.3712G= (p.Gly1238=) c.3745G= (p.Gly1249=) | |
3 | g.38562504C>G | CA352148227 | SCN5A | c.3871G>C (p.Gly1291Arg) c.3874G>C (p.Gly1292Arg) c.3712G>C (p.Gly1238Arg) c.3745G>C (p.Gly1249Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38562504C>T | CA352148228 | SCN5A | c.3871G>A (p.Gly1291Ser) c.3874G>A (p.Gly1292Ser) c.3712G>A (p.Gly1238Ser) c.3745G>A (p.Gly1249Ser) | |
3 | g.38562505C>A | CA433136522 | SCN5A | c.3870G>T (p.Leu1290=) c.3873G>T (p.Leu1291=) c.3711G>T (p.Leu1237=) c.3744G>T (p.Leu1248=) | |
3 | g.38562505C= | CA1358566740 | SCN5A | c.3870G= (p.Leu1290=) c.3873G= (p.Leu1291=) c.3711G= (p.Leu1237=) c.3744G= (p.Leu1248=) | |
3 | g.38562505C>G | CA433136523 | SCN5A | c.3870G>C (p.Leu1290=) c.3873G>C (p.Leu1291=) c.3711G>C (p.Leu1237=) c.3744G>C (p.Leu1248=) | |
3 | g.38562505C>T | CA017574 | SCN5A | c.3870G>A (p.Leu1290=) c.3873G>A (p.Leu1291=) c.3711G>A (p.Leu1237=) c.3744G>A (p.Leu1248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562506A>C | CA352148230 | SCN5A | c.3869T>G (p.Leu1290Arg) c.3872T>G (p.Leu1291Arg) c.3710T>G (p.Leu1237Arg) c.3743T>G (p.Leu1248Arg) | |
3 | g.38562506A>G | CA352148231 | SCN5A | c.3869T>C (p.Leu1290Pro) c.3872T>C (p.Leu1291Pro) c.3710T>C (p.Leu1237Pro) c.3743T>C (p.Leu1248Pro) | |
3 | g.38562506A>T | CA352148229 | SCN5A | c.3869T>A (p.Leu1290Gln) c.3872T>A (p.Leu1291Gln) c.3710T>A (p.Leu1237Gln) c.3743T>A (p.Leu1248Gln) | |
3 | g.38562507G>A | CA433136524 | SCN5A | c.3868C>T (p.Leu1290=) c.3871C>T (p.Leu1291=) c.3709C>T (p.Leu1237=) c.3742C>T (p.Leu1248=) | gnomAD v4 |
3 | g.38562507G>C | CA352148232 | SCN5A | c.3868C>G (p.Leu1290Val) c.3871C>G (p.Leu1291Val) c.3709C>G (p.Leu1237Val) c.3742C>G (p.Leu1248Val) | ClinVar dbSNP |
3 | g.38562507G>T | CA352148233 | SCN5A | c.3868C>A (p.Leu1290Met) c.3871C>A (p.Leu1291Met) c.3709C>A (p.Leu1237Met) c.3742C>A (p.Leu1248Met) | |
3 | g.38562508G>A | CA433136526 | SCN5A | c.3867C>T (p.Thr1289=) c.3870C>T (p.Thr1290=) c.3708C>T (p.Thr1236=) c.3741C>T (p.Thr1247=) | |
3 | g.38562508G>C | CA433136528 | SCN5A | c.3867C>G (p.Thr1289=) c.3870C>G (p.Thr1290=) c.3708C>G (p.Thr1236=) c.3741C>G (p.Thr1247=) | |
3 | g.38562508G>T | CA433136529 | SCN5A | c.3867C>A (p.Thr1289=) c.3870C>A (p.Thr1290=) c.3708C>A (p.Thr1236=) c.3741C>A (p.Thr1247=) | |
3 | g.38562509G>A | CA352148234 | SCN5A | c.3866C>T (p.Thr1289Ile) c.3869C>T (p.Thr1290Ile) c.3707C>T (p.Thr1236Ile) c.3740C>T (p.Thr1247Ile) | ClinVar dbSNP |
3 | g.38562509G>C | CA352148235 | SCN5A | c.3866C>G (p.Thr1289Ser) c.3869C>G (p.Thr1290Ser) c.3707C>G (p.Thr1236Ser) c.3740C>G (p.Thr1247Ser) | |
3 | g.38562509G>T | CA352148236 | SCN5A | c.3866C>A (p.Thr1289Asn) c.3869C>A (p.Thr1290Asn) c.3707C>A (p.Thr1236Asn) c.3740C>A (p.Thr1247Asn) | gnomAD v4 |
3 | g.38562510T>A | CA352148239 | SCN5A | c.3865A>T (p.Thr1289Ser) c.3868A>T (p.Thr1290Ser) c.3706A>T (p.Thr1236Ser) c.3739A>T (p.Thr1247Ser) | |
3 | g.38562510T>C | CA352148237 | SCN5A | c.3865A>G (p.Thr1289Ala) c.3868A>G (p.Thr1290Ala) c.3706A>G (p.Thr1236Ala) c.3739A>G (p.Thr1247Ala) | |
3 | g.38562510T>G | CA352148238 | SCN5A | c.3865A>C (p.Thr1289Pro) c.3868A>C (p.Thr1290Pro) c.3706A>C (p.Thr1236Pro) c.3739A>C (p.Thr1247Pro) | |
3 | g.38562511G>A | CA433136532 | SCN5A | c.3864C>T (p.Asn1288=) c.3867C>T (p.Asn1289=) c.3705C>T (p.Asn1235=) c.3738C>T (p.Asn1246=) | ClinVar dbSNP |
3 | g.38562511G>C | CA352148240 | SCN5A | c.3864C>G (p.Asn1288Lys) c.3867C>G (p.Asn1289Lys) c.3705C>G (p.Asn1235Lys) c.3738C>G (p.Asn1246Lys) | |
3 | g.38562511G>T | CA352148241 | SCN5A | c.3864C>A (p.Asn1288Lys) c.3867C>A (p.Asn1289Lys) c.3705C>A (p.Asn1235Lys) c.3738C>A (p.Asn1246Lys) | |
3 | g.38562512T>A | CA352148242 | SCN5A | c.3863A>T (p.Asn1288Ile) c.3866A>T (p.Asn1289Ile) c.3704A>T (p.Asn1235Ile) c.3737A>T (p.Asn1246Ile) | gnomAD v4 |
3 | g.38562512T>C | CA352148243 | SCN5A | c.3863A>G (p.Asn1288Ser) c.3866A>G (p.Asn1289Ser) c.3704A>G (p.Asn1235Ser) c.3737A>G (p.Asn1246Ser) | |
3 | g.38562512T>G | CA352148244 | SCN5A | c.3863A>C (p.Asn1288Thr) c.3866A>C (p.Asn1289Thr) c.3704A>C (p.Asn1235Thr) c.3737A>C (p.Asn1246Thr) | |
3 | g.38562513T>A | CA352148245 | SCN5A | c.3862A>T (p.Asn1288Tyr) c.3865A>T (p.Asn1289Tyr) c.3703A>T (p.Asn1235Tyr) c.3736A>T (p.Asn1246Tyr) | |
3 | g.38562513T>C | CA352148247 | SCN5A | c.3862A>G (p.Asn1288Asp) c.3865A>G (p.Asn1289Asp) c.3703A>G (p.Asn1235Asp) c.3736A>G (p.Asn1246Asp) | ClinVar dbSNP |
3 | g.38562513T>G | CA352148246 | SCN5A | c.3862A>C (p.Asn1288His) c.3865A>C (p.Asn1289His) c.3703A>C (p.Asn1235His) c.3736A>C (p.Asn1246His) | gnomAD v4 |
3 | g.38562513T= | CA1358566741 | SCN5A | c.3862A= (p.Asn1288=) c.3865A= (p.Asn1289=) c.3703A= (p.Asn1235=) c.3736A= (p.Asn1246=) | |
3 | g.38562514G>A | CA433136536 | SCN5A | c.3861C>T (p.Ala1287=) c.3864C>T (p.Ala1288=) c.3702C>T (p.Ala1234=) c.3735C>T (p.Ala1245=) | |
3 | g.38562514G>C | CA433136537 | SCN5A | c.3861C>G (p.Ala1287=) c.3864C>G (p.Ala1288=) c.3702C>G (p.Ala1234=) c.3735C>G (p.Ala1245=) | gnomAD v4 |
3 | g.38562514G>T | CA433136538 | SCN5A | c.3861C>A (p.Ala1287=) c.3864C>A (p.Ala1288=) c.3702C>A (p.Ala1234=) c.3735C>A (p.Ala1245=) | |
3 | g.38562515G>A | CA352148248 | SCN5A | c.3860C>T (p.Ala1287Val) c.3863C>T (p.Ala1288Val) c.3701C>T (p.Ala1234Val) c.3734C>T (p.Ala1245Val) | |
3 | g.38562515G>C | CA017568 | SCN5A | c.3860C>G (p.Ala1287Gly) c.3863C>G (p.Ala1288Gly) c.3701C>G (p.Ala1234Gly) c.3734C>G (p.Ala1245Gly) | ClinVar dbSNP |
3 | g.38562515G= | CA1358566742 | SCN5A | c.3860C= (p.Ala1287=) c.3863C= (p.Ala1288=) c.3701C= (p.Ala1234=) c.3734C= (p.Ala1245=) | |
3 | g.38562515G>T | CA352148249 | SCN5A | c.3860C>A (p.Ala1287Asp) c.3863C>A (p.Ala1288Asp) c.3701C>A (p.Ala1234Asp) c.3734C>A (p.Ala1245Asp) | |
3 | g.38562516C>A | CA352148250 | SCN5A | c.3859G>T (p.Ala1287Ser) c.3862G>T (p.Ala1288Ser) c.3700G>T (p.Ala1234Ser) c.3733G>T (p.Ala1245Ser) | |
3 | g.38562516C>G | CA352148251 | SCN5A | c.3859G>C (p.Ala1287Pro) c.3862G>C (p.Ala1288Pro) c.3700G>C (p.Ala1234Pro) c.3733G>C (p.Ala1245Pro) | |
3 | g.38562516C>T | CA352148252 | SCN5A | c.3859G>A (p.Ala1287Thr) c.3862G>A (p.Ala1288Thr) c.3700G>A (p.Ala1234Thr) c.3733G>A (p.Ala1245Thr) | |
3 | g.38562517C>A | CA433136540 | SCN5A | c.3858G>T (p.Val1286=) c.3861G>T (p.Val1287=) c.3699G>T (p.Val1233=) c.3732G>T (p.Val1244=) | |
3 | g.38562517C>G | CA433136543 | SCN5A | c.3858G>C (p.Val1286=) c.3861G>C (p.Val1287=) c.3699G>C (p.Val1233=) c.3732G>C (p.Val1244=) | |
3 | g.38562517C>T | CA433136542 | SCN5A | c.3858G>A (p.Val1286=) c.3861G>A (p.Val1287=) c.3699G>A (p.Val1233=) c.3732G>A (p.Val1244=) | gnomAD v4 |
3 | g.38562518A= | CA1358566743 | SCN5A | c.3857T= (p.Val1286=) c.3860T= (p.Val1287=) c.3698T= (p.Val1233=) c.3731T= (p.Val1244=) | |
3 | g.38562518A>C | CA352148253 | SCN5A | c.3857T>G (p.Val1286Gly) c.3860T>G (p.Val1287Gly) c.3698T>G (p.Val1233Gly) c.3731T>G (p.Val1244Gly) | |
3 | g.38562518A>G | CA352148254 | SCN5A | c.3857T>C (p.Val1286Ala) c.3860T>C (p.Val1287Ala) c.3698T>C (p.Val1233Ala) c.3731T>C (p.Val1244Ala) | ClinVar dbSNP |
3 | g.38562518A>T | CA352148255 | SCN5A | c.3857T>A (p.Val1286Glu) c.3860T>A (p.Val1287Glu) c.3698T>A (p.Val1233Glu) c.3731T>A (p.Val1244Glu) | |
3 | g.38562519C>A | CA352148256 | SCN5A | c.3856G>T (p.Val1286Leu) c.3859G>T (p.Val1287Leu) c.3697G>T (p.Val1233Leu) c.3730G>T (p.Val1244Leu) | COSMIC |
3 | g.38562519C>G | CA352148257 | SCN5A | c.3856G>C (p.Val1286Leu) c.3859G>C (p.Val1287Leu) c.3697G>C (p.Val1233Leu) c.3730G>C (p.Val1244Leu) | |
3 | g.38562519C>T | CA352148258 | SCN5A | c.3856G>A (p.Val1286Met) c.3859G>A (p.Val1287Met) c.3697G>A (p.Val1233Met) c.3730G>A (p.Val1244Met) | gnomAD v4 |
3 | g.38562520C>A | CA433136544 | SCN5A | c.3855G>T (p.Leu1285=) c.3858G>T (p.Leu1286=) c.3696G>T (p.Leu1232=) c.3729G>T (p.Leu1243=) | COSMIC COSMIC COSMIC |
3 | g.38562520C= | CA1358566744 | SCN5A | c.3855G= (p.Leu1285=) c.3858G= (p.Leu1286=) c.3696G= (p.Leu1232=) c.3729G= (p.Leu1243=) | |
3 | g.38562520C>G | CA433136545 | SCN5A | c.3855G>C (p.Leu1285=) c.3858G>C (p.Leu1286=) c.3696G>C (p.Leu1232=) c.3729G>C (p.Leu1243=) | gnomAD v4 |
3 | g.38562520C>T | CA433136546 | SCN5A | c.3855G>A (p.Leu1285=) c.3858G>A (p.Leu1286=) c.3696G>A (p.Leu1232=) c.3729G>A (p.Leu1243=) | ClinVar dbSNP gnomAD v4 |
3 | g.38562521A>C | CA352148259 | SCN5A | c.3854T>G (p.Leu1285Arg) c.3857T>G (p.Leu1286Arg) c.3695T>G (p.Leu1232Arg) c.3728T>G (p.Leu1243Arg) | |
3 | g.38562521A>G | CA352148260 | SCN5A | c.3854T>C (p.Leu1285Pro) c.3857T>C (p.Leu1286Pro) c.3695T>C (p.Leu1232Pro) c.3728T>C (p.Leu1243Pro) | |
3 | g.38562521A>T | CA352148261 | SCN5A | c.3854T>A (p.Leu1285Gln) c.3857T>A (p.Leu1286Gln) c.3695T>A (p.Leu1232Gln) c.3728T>A (p.Leu1243Gln) | |
3 | g.38562522G>A | CA433136548 | SCN5A | c.3853C>T (p.Leu1285=) c.3856C>T (p.Leu1286=) c.3694C>T (p.Leu1232=) c.3727C>T (p.Leu1243=) | ClinVar dbSNP |
3 | g.38562522G>C | CA352148263 | SCN5A | c.3853C>G (p.Leu1285Val) c.3856C>G (p.Leu1286Val) c.3694C>G (p.Leu1232Val) c.3727C>G (p.Leu1243Val) | |
3 | g.38562522G= | CA1358566745 | SCN5A | c.3853C= (p.Leu1285=) c.3856C= (p.Leu1286=) c.3694C= (p.Leu1232=) c.3727C= (p.Leu1243=) | |
3 | g.38562522G>T | CA352148262 | SCN5A | c.3853C>A (p.Leu1285Met) c.3856C>A (p.Leu1286Met) c.3694C>A (p.Leu1232Met) c.3727C>A (p.Leu1243Met) | |
3 | g.38562523G>A | CA433136549 | SCN5A | c.3852C>T (p.Ser1284=) c.3855C>T (p.Ser1285=) c.3693C>T (p.Ser1231=) c.3726C>T (p.Ser1242=) | dbSNP gnomAD v2 |
3 | g.38562523G>C | CA352148264 | SCN5A | c.3852C>G (p.Ser1284Arg) c.3855C>G (p.Ser1285Arg) c.3693C>G (p.Ser1231Arg) c.3726C>G (p.Ser1242Arg) | |
3 | g.38562523G= | CA1358566746 | SCN5A | c.3852C= (p.Ser1284=) c.3855C= (p.Ser1285=) c.3693C= (p.Ser1231=) c.3726C= (p.Ser1242=) | |
3 | g.38562523G>T | CA352148265 | SCN5A | c.3852C>A (p.Ser1284Arg) c.3855C>A (p.Ser1285Arg) c.3693C>A (p.Ser1231Arg) c.3726C>A (p.Ser1242Arg) | |
3 | g.38562524C>A | CA352148266 | SCN5A | c.3851G>T (p.Ser1284Ile) c.3854G>T (p.Ser1285Ile) c.3692G>T (p.Ser1231Ile) c.3725G>T (p.Ser1242Ile) | |
3 | g.38562524C>G | CA352148267 | SCN5A | c.3851G>C (p.Ser1284Thr) c.3854G>C (p.Ser1285Thr) c.3692G>C (p.Ser1231Thr) c.3725G>C (p.Ser1242Thr) | |
3 | g.38562524C>T | CA352148268 | SCN5A | c.3851G>A (p.Ser1284Asn) c.3854G>A (p.Ser1285Asn) c.3692G>A (p.Ser1231Asn) c.3725G>A (p.Ser1242Asn) | |
3 | g.38562525T>A | CA352148269 | SCN5A | c.3850A>T (p.Ser1284Cys) c.3853A>T (p.Ser1285Cys) c.3691A>T (p.Ser1231Cys) c.3724A>T (p.Ser1242Cys) | |
3 | g.38562525T>C | CA352148270 | SCN5A | c.3850A>G (p.Ser1284Gly) c.3853A>G (p.Ser1285Gly) c.3691A>G (p.Ser1231Gly) c.3724A>G (p.Ser1242Gly) | |
3 | g.38562525T>G | CA352148271 | SCN5A | c.3850A>C (p.Ser1284Arg) c.3853A>C (p.Ser1285Arg) c.3691A>C (p.Ser1231Arg) c.3724A>C (p.Ser1242Arg) | |
3 | g.38562526G>A | CA433136554 | SCN5A | c.3849C>T (p.Val1283=) c.3852C>T (p.Val1284=) c.3690C>T (p.Val1230=) c.3723C>T (p.Val1241=) | ClinVar gnomAD v4 |
3 | g.38562526G>C | CA433136552 | SCN5A | c.3849C>G (p.Val1283=) c.3852C>G (p.Val1284=) c.3690C>G (p.Val1230=) c.3723C>G (p.Val1241=) | |
3 | g.38562526G>T | CA433136553 | SCN5A | c.3849C>A (p.Val1283=) c.3852C>A (p.Val1284=) c.3690C>A (p.Val1230=) c.3723C>A (p.Val1241=) | gnomAD v4 |
3 | g.38562527A= | CA1358566747 | SCN5A | c.3848T= (p.Val1283=) c.3851T= (p.Val1284=) c.3689T= (p.Val1230=) c.3722T= (p.Val1241=) | |
3 | g.38562527A>C | CA352148272 | SCN5A | c.3848T>G (p.Val1283Gly) c.3851T>G (p.Val1284Gly) c.3689T>G (p.Val1230Gly) c.3722T>G (p.Val1241Gly) | |
3 | g.38562527A>G | CA352148273 | SCN5A | c.3848T>C (p.Val1283Ala) c.3851T>C (p.Val1284Ala) c.3689T>C (p.Val1230Ala) c.3722T>C (p.Val1241Ala) | ClinVar |
3 | g.38562527A>T | CA352148274 | SCN5A | c.3848T>A (p.Val1283Asp) c.3851T>A (p.Val1284Asp) c.3689T>A (p.Val1230Asp) c.3722T>A (p.Val1241Asp) | dbSNP gnomAD v4 |
3 | g.38562528C>A | CA352148277 | SCN5A | c.3847G>T (p.Val1283Phe) c.3850G>T (p.Val1284Phe) c.3688G>T (p.Val1230Phe) c.3721G>T (p.Val1241Phe) | |
3 | g.38562528C>G | CA352148276 | SCN5A | c.3847G>C (p.Val1283Leu) c.3850G>C (p.Val1284Leu) c.3688G>C (p.Val1230Leu) c.3721G>C (p.Val1241Leu) | |
3 | g.38562528C>T | CA352148275 | SCN5A | c.3847G>A (p.Val1283Ile) c.3850G>A (p.Val1284Ile) c.3688G>A (p.Val1230Ile) c.3721G>A (p.Val1241Ile) | |
3 | g.38562529C>A | CA433136557 | SCN5A | c.3846G>T (p.Leu1282=) c.3849G>T (p.Leu1283=) c.3687G>T (p.Leu1229=) c.3720G>T (p.Leu1240=) | |
3 | g.38562529C>G | CA433136558 | SCN5A | c.3846G>C (p.Leu1282=) c.3849G>C (p.Leu1283=) c.3687G>C (p.Leu1229=) c.3720G>C (p.Leu1240=) | |
3 | g.38562529C>T | CA433136559 | SCN5A | c.3846G>A (p.Leu1282=) c.3849G>A (p.Leu1283=) c.3687G>A (p.Leu1229=) c.3720G>A (p.Leu1240=) | |
3 | g.38562529_38562531delinsCAG | CA1358566748 | SCN5A | c.3844_3846delinsCTG (p.Leu1282=) c.3847_3849delinsCTG (p.Leu1283=) c.3685_3687delinsCTG (p.Leu1229=) c.3718_3720delinsCTG (p.Leu1240=) | |
3 | g.38562530A>C | CA352148278 | SCN5A | c.3845T>G (p.Leu1282Arg) c.3848T>G (p.Leu1283Arg) c.3686T>G (p.Leu1229Arg) c.3719T>G (p.Leu1240Arg) | |
3 | g.38562530A>G | CA352148279 | SCN5A | c.3845T>C (p.Leu1282Pro) c.3848T>C (p.Leu1283Pro) c.3686T>C (p.Leu1229Pro) c.3719T>C (p.Leu1240Pro) | |
3 | g.38562530A>T | CA352148280 | SCN5A | c.3845T>A (p.Leu1282Gln) c.3848T>A (p.Leu1283Gln) c.3686T>A (p.Leu1229Gln) c.3719T>A (p.Leu1240Gln) | |
3 | g.38562535_38562536del | CA916079922 | SCN5A | c.3844_3845del (p.Leu1282GlyfsTer?) c.3847_3848del (p.Leu1283GlyfsTer?) c.3685_3686del (p.Leu1229GlyfsTer?) c.3718_3719del (p.Leu1240GlyfsTer?) | ClinVar dbSNP |
3 | g.38562531G>A | CA062398 | SCN5A | c.3844C>T (p.Leu1282=) c.3847C>T (p.Leu1283=) c.3685C>T (p.Leu1229=) c.3718C>T (p.Leu1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562531G>C | CA352148281 | SCN5A | c.3844C>G (p.Leu1282Val) c.3847C>G (p.Leu1283Val) c.3685C>G (p.Leu1229Val) c.3718C>G (p.Leu1240Val) | gnomAD v4 |
3 | g.38562531G= | CA1358566749 | SCN5A | c.3844C= (p.Leu1282=) c.3847C= (p.Leu1283=) c.3685C= (p.Leu1229=) c.3718C= (p.Leu1240=) | |
3 | g.38562531G>T | CA017562 | SCN5A | c.3844C>A (p.Leu1282Met) c.3847C>A (p.Leu1283Met) c.3685C>A (p.Leu1229Met) c.3718C>A (p.Leu1240Met) | ClinVar dbSNP gnomAD v4 |
3 | g.38562532A= | CA1358566750 | SCN5A | c.3843T= (p.Ser1281=) c.3846T= (p.Ser1282=) c.3684T= (p.Ser1228=) c.3717T= (p.Ser1239=) | |
3 | g.38562532A>C | CA433136565 | SCN5A | c.3843T>G (p.Ser1281=) c.3846T>G (p.Ser1282=) c.3684T>G (p.Ser1228=) c.3717T>G (p.Ser1239=) | |
3 | g.38562532A>G | CA433136564 | SCN5A | c.3843T>C (p.Ser1281=) c.3846T>C (p.Ser1282=) c.3684T>C (p.Ser1228=) c.3717T>C (p.Ser1239=) | dbSNP |
3 | g.38562532A>T | CA433136566 | SCN5A | c.3843T>A (p.Ser1281=) c.3846T>A (p.Ser1282=) c.3684T>A (p.Ser1228=) c.3717T>A (p.Ser1239=) | |
3 | g.38562533G>A | CA352148282 | SCN5A | c.3842C>T (p.Ser1281Phe) c.3845C>T (p.Ser1282Phe) c.3683C>T (p.Ser1228Phe) c.3716C>T (p.Ser1239Phe) | |
3 | g.38562533G>C | CA352148283 | SCN5A | c.3842C>G (p.Ser1281Cys) c.3845C>G (p.Ser1282Cys) c.3683C>G (p.Ser1228Cys) c.3716C>G (p.Ser1239Cys) | |
3 | g.38562533G>T | CA352148284 | SCN5A | c.3842C>A (p.Ser1281Tyr) c.3845C>A (p.Ser1282Tyr) c.3683C>A (p.Ser1228Tyr) c.3716C>A (p.Ser1239Tyr) | |
3 | g.38562534A= | CA1358566751 | SCN5A | c.3841T= (p.Ser1281=) c.3844T= (p.Ser1282=) c.3682T= (p.Ser1228=) c.3715T= (p.Ser1239=) | |
3 | g.38562534A>C | CA352148285 | SCN5A | c.3841T>G (p.Ser1281Ala) c.3844T>G (p.Ser1282Ala) c.3682T>G (p.Ser1228Ala) c.3715T>G (p.Ser1239Ala) | dbSNP gnomAD v4 |
3 | g.38562534A>G | CA352148286 | SCN5A | c.3841T>C (p.Ser1281Pro) c.3844T>C (p.Ser1282Pro) c.3682T>C (p.Ser1228Pro) c.3715T>C (p.Ser1239Pro) | |
3 | g.38562534A>T | CA352148287 | SCN5A | c.3841T>A (p.Ser1281Thr) c.3844T>A (p.Ser1282Thr) c.3682T>A (p.Ser1228Thr) c.3715T>A (p.Ser1239Thr) | |
3 | g.38562535G>A | CA433136570 | SCN5A | c.3840C>T (p.Val1280=) c.3843C>T (p.Val1281=) c.3681C>T (p.Val1227=) c.3714C>T (p.Val1238=) | |
3 | g.38562535G>C | CA433136571 | SCN5A | c.3840C>G (p.Val1280=) c.3843C>G (p.Val1281=) c.3681C>G (p.Val1227=) c.3714C>G (p.Val1238=) | |
3 | g.38562535G>T | CA433136572 | SCN5A | c.3840C>A (p.Val1280=) c.3843C>A (p.Val1281=) c.3681C>A (p.Val1227=) c.3714C>A (p.Val1238=) | COSMIC COSMIC COSMIC |
3 | g.38562536A>C | CA352148290 | SCN5A | c.3839T>G (p.Val1280Gly) c.3842T>G (p.Val1281Gly) c.3680T>G (p.Val1227Gly) c.3713T>G (p.Val1238Gly) | |
3 | g.38562536A>G | CA352148289 | SCN5A | c.3839T>C (p.Val1280Ala) c.3842T>C (p.Val1281Ala) c.3680T>C (p.Val1227Ala) c.3713T>C (p.Val1238Ala) | gnomAD v4 |
3 | g.38562536A>T | CA352148288 | SCN5A | c.3839T>A (p.Val1280Asp) c.3842T>A (p.Val1281Asp) c.3680T>A (p.Val1227Asp) c.3713T>A (p.Val1238Asp) | |
3 | g.38562537C>A | CA017557 | SCN5A | c.3838G>T (p.Val1280Phe) c.3841G>T (p.Val1281Phe) c.3679G>T (p.Val1227Phe) c.3712G>T (p.Val1238Phe) | ClinVar dbSNP COSMIC |
3 | g.38562537C= | CA1358566752 | SCN5A | c.3838G= (p.Val1280=) c.3841G= (p.Val1281=) c.3679G= (p.Val1227=) c.3712G= (p.Val1238=) | |
3 | g.38562537C>G | CA352148291 | SCN5A | c.3838G>C (p.Val1280Leu) c.3841G>C (p.Val1281Leu) c.3679G>C (p.Val1227Leu) c.3712G>C (p.Val1238Leu) | ClinVar dbSNP |
3 | g.38562537C>T | CA352148292 | SCN5A | c.3838G>A (p.Val1280Ile) c.3841G>A (p.Val1281Ile) c.3679G>A (p.Val1227Ile) c.3712G>A (p.Val1238Ile) | dbSNP gnomAD v4 |
3 | g.38562537_38562538insGTCTACGATGAGGAAGTCGAGCCAGCACCAGGCATTGGTGAAGTACTTCTTGAAGCCGTAGGCCACCCACTTGAGCAG | CA542270481 | SCN5A | c.3838-1_3838insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3838-1_3838insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC) c.3841-1_3841insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3841-1_3841insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC) c.3679-1_3679insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3679-1_3679insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC) c.3712-1_3712insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3712-1_3712insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC) | gnomAD v2 |
3 | g.38562538C>A | CA352148293 | SCN5A | c.3838-1G>T (n.3838-1G>T) c.3841-1G>T (n.3841-1G>T) c.3679-1G>T (n.3679-1G>T) c.3712-1G>T (n.3712-1G>T) | |
3 | g.38562538C= | CA1358566753 | SCN5A | c.3838-1G= (n.3838-1G=) c.3841-1G= (n.3841-1G=) c.3679-1G= (n.3679-1G=) c.3712-1G= (n.3712-1G=) | |
3 | g.38562538C>G | CA352148294 | SCN5A | c.3838-1G>C (n.3838-1G>C) c.3841-1G>C (n.3841-1G>C) c.3679-1G>C (n.3679-1G>C) c.3712-1G>C (n.3712-1G>C) | dbSNP |
3 | g.38562538C>T | CA352148295 | SCN5A | c.3838-1G>A (n.3838-1G>A) c.3841-1G>A (n.3841-1G>A) c.3679-1G>A (n.3679-1G>A) c.3712-1G>A (n.3712-1G>A) | |
3 | g.38562539T>A | CA352148296 | SCN5A | c.3838-2A>T (n.3838-2A>T) c.3841-2A>T (n.3841-2A>T) c.3679-2A>T (n.3679-2A>T) c.3712-2A>T (n.3712-2A>T) | ClinVar |
3 | g.38562539T>C | CA352148297 | SCN5A | c.3838-2A>G (n.3838-2A>G) c.3841-2A>G (n.3841-2A>G) c.3679-2A>G (n.3679-2A>G) c.3712-2A>G (n.3712-2A>G) | |
3 | g.38562539T>G | CA352148298 | SCN5A | c.3838-2A>C (n.3838-2A>C) c.3841-2A>C (n.3841-2A>C) c.3679-2A>C (n.3679-2A>C) c.3712-2A>C (n.3712-2A>C) | |
3 | g.38562540G>C | CA72945889 | SCN5A | c.3838-3C>G (n.3838-3C>G) c.3841-3C>G (n.3841-3C>G) c.3679-3C>G (n.3679-3C>G) c.3712-3C>G (n.3712-3C>G) | dbSNP |
3 | g.38562540G= | CA1358566754 | SCN5A | c.3838-3C= (n.3838-3C=) c.3841-3C= (n.3841-3C=) c.3679-3C= (n.3679-3C=) c.3712-3C= (n.3712-3C=) | |
3 | g.38562544dup | CA2665111728 | SCN5A | c.3838-3dup (n.3838-3dup) c.3841-3dup (n.3841-3dup) c.3679-3dup (n.3679-3dup) c.3712-3dup (n.3712-3dup) | gnomAD v4 |
3 | g.38562541G>T | CA2511263719 | SCN5A | c.3838-4C>A (n.3838-4C>A) c.3841-4C>A (n.3841-4C>A) c.3679-4C>A (n.3679-4C>A) c.3712-4C>A (n.3712-4C>A) | |
3 | g.38562542G>A | CA2577553162 | SCN5A | c.3838-5C>T (n.3838-5C>T) c.3841-5C>T (n.3841-5C>T) c.3679-5C>T (n.3679-5C>T) c.3712-5C>T (n.3712-5C>T) | |
3 | g.38562542G>T | CA2702486504 | SCN5A | c.3838-5C>A (n.3838-5C>A) c.3841-5C>A (n.3841-5C>A) c.3679-5C>A (n.3679-5C>A) c.3712-5C>A (n.3712-5C>A) | dbSNP |
3 | g.38562543G>A | CA2665111729 | SCN5A | c.3838-6C>T (n.3838-6C>T) c.3841-6C>T (n.3841-6C>T) c.3679-6C>T (n.3679-6C>T) c.3712-6C>T (n.3712-6C>T) | gnomAD v4 |
3 | g.38562544G>A | CA2530525865 | SCN5A | c.3838-7C>T (n.3838-7C>T) c.3841-7C>T (n.3841-7C>T) c.3679-7C>T (n.3679-7C>T) c.3712-7C>T (n.3712-7C>T) | |
3 | g.38562544G>C | CA645530250 | SCN5A | c.3838-7C>G (n.3838-7C>G) c.3841-7C>G (n.3841-7C>G) c.3679-7C>G (n.3679-7C>G) c.3712-7C>G (n.3712-7C>G) | COSMIC COSMIC COSMIC |
3 | g.38562544G= | CA1358566755 | SCN5A | c.3838-7C= (n.3838-7C=) c.3841-7C= (n.3841-7C=) c.3679-7C= (n.3679-7C=) c.3712-7C= (n.3712-7C=) | |
3 | g.38562544G>T | CA542270482 | SCN5A | c.3838-7C>A (n.3838-7C>A) c.3841-7C>A (n.3841-7C>A) c.3679-7C>A (n.3679-7C>A) c.3712-7C>A (n.3712-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562545A>G | CA2665111730 | SCN5A | c.3838-8T>C (n.3838-8T>C) c.3841-8T>C (n.3841-8T>C) c.3679-8T>C (n.3679-8T>C) c.3712-8T>C (n.3712-8T>C) | gnomAD v4 |
3 | g.38562547G>A | CA542270483 | SCN5A | c.3838-10C>T (n.3838-10C>T) c.3841-10C>T (n.3841-10C>T) c.3679-10C>T (n.3679-10C>T) c.3712-10C>T (n.3712-10C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562547G= | CA1358566756 | SCN5A | c.3838-10C= (n.3838-10C=) c.3841-10C= (n.3841-10C=) c.3679-10C= (n.3679-10C=) c.3712-10C= (n.3712-10C=) | |
3 | g.38562547G>T | CA062371 | SCN5A | c.3838-10C>A (n.3838-10C>A) c.3841-10C>A (n.3841-10C>A) c.3679-10C>A (n.3679-10C>A) c.3712-10C>A (n.3712-10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562548C>T | CA647831794 | SCN5A | c.3838-11G>A (n.3838-11G>A) c.3841-11G>A (n.3841-11G>A) c.3679-11G>A (n.3679-11G>A) c.3712-11G>A (n.3712-11G>A) | gnomAD v4 COSMIC |