| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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]) | ClinVar |
| 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=) |