Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560261G>A | CA062875 | SCN5A | c.4128C>T (p.Ile1376=) c.4131C>T (p.Ile1377=) c.3969C>T (p.Ile1323=) c.4002C>T (p.Ile1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560261G>C | CA062867 | SCN5A | c.4128C>G (p.Ile1376Met) c.4131C>G (p.Ile1377Met) c.3969C>G (p.Ile1323Met) c.4002C>G (p.Ile1334Met) | dbSNP ExAC gnomAD v2 |
3 | g.38560261G= | CA1358565698 | SCN5A | c.4128C= (p.Ile1376=) c.4131C= (p.Ile1377=) c.3969C= (p.Ile1323=) c.4002C= (p.Ile1334=) | |
3 | g.38560261G>T | CA433332386 | SCN5A | c.4128C>A (p.Ile1376=) c.4131C>A (p.Ile1377=) c.3969C>A (p.Ile1323=) c.4002C>A (p.Ile1334=) | COSMIC COSMIC COSMIC |
3 | g.38560262A>C | CA352146825 | SCN5A | c.4127T>G (p.Ile1376Ser) c.4130T>G (p.Ile1377Ser) c.3968T>G (p.Ile1323Ser) c.4001T>G (p.Ile1334Ser) | |
3 | g.38560262A>G | CA352146828 | SCN5A | c.4127T>C (p.Ile1376Thr) c.4130T>C (p.Ile1377Thr) c.3968T>C (p.Ile1323Thr) c.4001T>C (p.Ile1334Thr) | |
3 | g.38560262A>T | CA352146822 | SCN5A | c.4127T>A (p.Ile1376Asn) c.4130T>A (p.Ile1377Asn) c.3968T>A (p.Ile1323Asn) c.4001T>A (p.Ile1334Asn) | |
3 | g.38560263T>A | CA352146832 | SCN5A | c.4126A>T (p.Ile1376Phe) c.4129A>T (p.Ile1377Phe) c.3967A>T (p.Ile1323Phe) c.4000A>T (p.Ile1334Phe) | |
3 | g.38560263T>C | CA352146835 | SCN5A | c.4126A>G (p.Ile1376Val) c.4129A>G (p.Ile1377Val) c.3967A>G (p.Ile1323Val) c.4000A>G (p.Ile1334Val) | gnomAD v4 |
3 | g.38560263T>G | CA352146836 | SCN5A | c.4126A>C (p.Ile1376Leu) c.4129A>C (p.Ile1377Leu) c.3967A>C (p.Ile1323Leu) c.4000A>C (p.Ile1334Leu) | |
3 | g.38560264G>A | CA433332387 | SCN5A | c.4125C>T (p.Thr1375=) c.4128C>T (p.Thr1376=) c.3966C>T (p.Thr1322=) c.3999C>T (p.Thr1333=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560264G>C | CA433332389 | SCN5A | c.4125C>G (p.Thr1375=) c.4128C>G (p.Thr1376=) c.3966C>G (p.Thr1322=) c.3999C>G (p.Thr1333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560264G= | CA1358565699 | SCN5A | c.4125C= (p.Thr1375=) c.4128C= (p.Thr1376=) c.3966C= (p.Thr1322=) c.3999C= (p.Thr1333=) | |
3 | g.38560264G>T | CA433332390 | SCN5A | c.4125C>A (p.Thr1375=) c.4128C>A (p.Thr1376=) c.3966C>A (p.Thr1322=) c.3999C>A (p.Thr1333=) | |
3 | g.38560265G>A | CA352146837 | SCN5A | c.4124C>T (p.Thr1375Ile) c.4127C>T (p.Thr1376Ile) c.3965C>T (p.Thr1322Ile) c.3998C>T (p.Thr1333Ile) | |
3 | g.38560265G>C | CA352146838 | SCN5A | c.4124C>G (p.Thr1375Ser) c.4127C>G (p.Thr1376Ser) c.3965C>G (p.Thr1322Ser) c.3998C>G (p.Thr1333Ser) | |
3 | g.38560265G>T | CA352146839 | SCN5A | c.4124C>A (p.Thr1375Asn) c.4127C>A (p.Thr1376Asn) c.3965C>A (p.Thr1322Asn) c.3998C>A (p.Thr1333Asn) | |
3 | g.38560267_38560268dup | CA1358565700 | SCN5A | c.4123_4124dup (p.Ile1376ProfsTer3) c.4126_4127dup (p.Ile1377ProfsTer3) c.3964_3965dup (p.Ile1323ProfsTer3) c.3997_3998dup (p.Ile1334ProfsTer3) | ClinVar dbSNP |
3 | g.38560266T>A | CA352146841 | SCN5A | c.4123A>T (p.Thr1375Ser) c.4126A>T (p.Thr1376Ser) c.3964A>T (p.Thr1322Ser) c.3997A>T (p.Thr1333Ser) | |
3 | g.38560266T>C | CA352146842 | SCN5A | c.4123A>G (p.Thr1375Ala) c.4126A>G (p.Thr1376Ala) c.3964A>G (p.Thr1322Ala) c.3997A>G (p.Thr1333Ala) | |
3 | g.38560266T>G | CA352146845 | SCN5A | c.4123A>C (p.Thr1375Pro) c.4126A>C (p.Thr1376Pro) c.3964A>C (p.Thr1322Pro) c.3997A>C (p.Thr1333Pro) | |
3 | g.38560267G>A | CA062862 | SCN5A | c.4122C>T (p.Tyr1374=) c.4125C>T (p.Tyr1375=) c.3963C>T (p.Tyr1321=) c.3996C>T (p.Tyr1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560267G>C | CA352146849 | SCN5A | c.4122C>G (p.Tyr1374Ter) c.4125C>G (p.Tyr1375Ter) c.3963C>G (p.Tyr1321Ter) c.3996C>G (p.Tyr1332Ter) | |
3 | g.38560267G= | CA1358565701 | SCN5A | c.4122C= (p.Tyr1374=) c.4125C= (p.Tyr1375=) c.3963C= (p.Tyr1321=) c.3996C= (p.Tyr1332=) | |
3 | g.38560267G>T | CA352146850 | SCN5A | c.4122C>A (p.Tyr1374Ter) c.4125C>A (p.Tyr1375Ter) c.3963C>A (p.Tyr1321Ter) c.3996C>A (p.Tyr1332Ter) | |
3 | g.38560268T>A | CA352146857 | SCN5A | c.4121A>T (p.Tyr1374Phe) c.4124A>T (p.Tyr1375Phe) c.3962A>T (p.Tyr1321Phe) c.3995A>T (p.Tyr1332Phe) | |
3 | g.38560268T>C | CA352146853 | SCN5A | c.4121A>G (p.Tyr1374Cys) c.4124A>G (p.Tyr1375Cys) c.3962A>G (p.Tyr1321Cys) c.3995A>G (p.Tyr1332Cys) | |
3 | g.38560268T>G | CA352146855 | SCN5A | c.4121A>C (p.Tyr1374Ser) c.4124A>C (p.Tyr1375Ser) c.3962A>C (p.Tyr1321Ser) c.3995A>C (p.Tyr1332Ser) | |
3 | g.38560269A= | CA1358565702 | SCN5A | c.4120T= (p.Tyr1374=) c.4123T= (p.Tyr1375=) c.3961T= (p.Tyr1321=) c.3994T= (p.Tyr1332=) | |
3 | g.38560269A>C | CA352146858 | SCN5A | c.4120T>G (p.Tyr1374Asp) c.4123T>G (p.Tyr1375Asp) c.3961T>G (p.Tyr1321Asp) c.3994T>G (p.Tyr1332Asp) | gnomAD v4 |
3 | g.38560269A>G | CA062856 | SCN5A | c.4120T>C (p.Tyr1374His) c.4123T>C (p.Tyr1375His) c.3961T>C (p.Tyr1321His) c.3994T>C (p.Tyr1332His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560269A>T | CA352146859 | SCN5A | c.4120T>A (p.Tyr1374Asn) c.4123T>A (p.Tyr1375Asn) c.3961T>A (p.Tyr1321Asn) c.3994T>A (p.Tyr1332Asn) | |
3 | g.38560270G>A | CA433332392 | SCN5A | c.4119C>T (p.Asn1373=) c.4122C>T (p.Asn1374=) c.3960C>T (p.Asn1320=) c.3993C>T (p.Asn1331=) | ClinVar |
3 | g.38560270G>C | CA352146861 | SCN5A | c.4119C>G (p.Asn1373Lys) c.4122C>G (p.Asn1374Lys) c.3960C>G (p.Asn1320Lys) c.3993C>G (p.Asn1331Lys) | |
3 | g.38560270G>T | CA352146862 | SCN5A | c.4119C>A (p.Asn1373Lys) c.4122C>A (p.Asn1374Lys) c.3960C>A (p.Asn1320Lys) c.3993C>A (p.Asn1331Lys) | ClinVar |
3 | g.38560271T>A | CA352146864 | SCN5A | c.4118A>T (p.Asn1373Ile) c.4121A>T (p.Asn1374Ile) c.3959A>T (p.Asn1320Ile) c.3992A>T (p.Asn1331Ile) | |
3 | g.38560271T>C | CA352146865 | SCN5A | c.4118A>G (p.Asn1373Ser) c.4121A>G (p.Asn1374Ser) c.3959A>G (p.Asn1320Ser) c.3992A>G (p.Asn1331Ser) | gnomAD v4 |
3 | g.38560271T>G | CA352146866 | SCN5A | c.4118A>C (p.Asn1373Thr) c.4121A>C (p.Asn1374Thr) c.3959A>C (p.Asn1320Thr) c.3992A>C (p.Asn1331Thr) | |
3 | g.38560272T>A | CA352146867 | SCN5A | c.4117A>T (p.Asn1373Tyr) c.4120A>T (p.Asn1374Tyr) c.3958A>T (p.Asn1320Tyr) c.3991A>T (p.Asn1331Tyr) | |
3 | g.38560272T>C | CA352146868 | SCN5A | c.4117A>G (p.Asn1373Asp) c.4120A>G (p.Asn1374Asp) c.3958A>G (p.Asn1320Asp) c.3991A>G (p.Asn1331Asp) | |
3 | g.38560272T>G | CA352146870 | SCN5A | c.4117A>C (p.Asn1373His) c.4120A>C (p.Asn1374His) c.3958A>C (p.Asn1320His) c.3991A>C (p.Asn1331His) | |
3 | g.38560273C>A | CA352146872 | SCN5A | c.4116G>T (p.Leu1372Phe) c.4119G>T (p.Leu1373Phe) c.3957G>T (p.Leu1319Phe) c.3990G>T (p.Leu1330Phe) | |
3 | g.38560273C>G | CA352146878 | SCN5A | c.4116G>C (p.Leu1372Phe) c.4119G>C (p.Leu1373Phe) c.3957G>C (p.Leu1319Phe) c.3990G>C (p.Leu1330Phe) | COSMIC COSMIC COSMIC |
3 | g.38560273C>T | CA433332393 | SCN5A | c.4116G>A (p.Leu1372=) c.4119G>A (p.Leu1373=) c.3957G>A (p.Leu1319=) c.3990G>A (p.Leu1330=) | |
3 | g.38560274A>C | CA352146882 | SCN5A | c.4115T>G (p.Leu1372Trp) c.4118T>G (p.Leu1373Trp) c.3956T>G (p.Leu1319Trp) c.3989T>G (p.Leu1330Trp) | |
3 | g.38560274A>G | CA352146884 | SCN5A | c.4115T>C (p.Leu1372Ser) c.4118T>C (p.Leu1373Ser) c.3956T>C (p.Leu1319Ser) c.3989T>C (p.Leu1330Ser) | gnomAD v4 |
3 | g.38560274A>T | CA352146880 | SCN5A | c.4115T>A (p.Leu1372Ter) c.4118T>A (p.Leu1373Ter) c.3956T>A (p.Leu1319Ter) c.3989T>A (p.Leu1330Ter) | |
3 | g.38560276del | CA2586965772 | SCN5A | c.4115del (p.Leu1372Ter) c.4118del (p.Leu1373Ter) c.3956del (p.Leu1319Ter) c.3989del (p.Leu1330Ter) | |
3 | g.38560275A>C | CA352146886 | SCN5A | c.4114T>G (p.Leu1372Val) c.4117T>G (p.Leu1373Val) c.3955T>G (p.Leu1319Val) c.3988T>G (p.Leu1330Val) | |
3 | g.38560275A>G | CA433332394 | SCN5A | c.4114T>C (p.Leu1372=) c.4117T>C (p.Leu1373=) c.3955T>C (p.Leu1319=) c.3988T>C (p.Leu1330=) |