UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560249C>A | CA352146746 | SCN5A | c.4140G>T (p.Lys1380Asn) c.4143G>T (p.Lys1381Asn) c.3981G>T (p.Lys1327Asn) c.4014G>T (p.Lys1338Asn) | |
| 3 | g.38560249C= | CA1358565692 | SCN5A | c.4140G= (p.Lys1380=) c.4143G= (p.Lys1381=) c.3981G= (p.Lys1327=) c.4014G= (p.Lys1338=) | |
| 3 | g.38560249C>G | CA352146748 | SCN5A | c.4140G>C (p.Lys1380Asn) c.4143G>C (p.Lys1381Asn) c.3981G>C (p.Lys1327Asn) c.4014G>C (p.Lys1338Asn) | ClinVar |
| 3 | g.38560249C>T | CA433332376 | SCN5A | c.4140G>A (p.Lys1380=) c.4143G>A (p.Lys1381=) c.3981G>A (p.Lys1327=) c.4014G>A (p.Lys1338=) | ClinVar dbSNP |
| 3 | g.38560249_38560252delinsCTTG | CA1358565691 | SCN5A | c.4137_4140delinsCAAG (p.Asn1379=) c.4140_4143delinsCAAG (p.Asn1380=) c.3978_3981delinsCAAG (p.Asn1326=) c.4011_4014delinsCAAG (p.Asn1337=) | |
| 3 | g.38560250T>A | CA352146757 | SCN5A | c.4139A>T (p.Lys1380Met) c.4142A>T (p.Lys1381Met) c.3980A>T (p.Lys1327Met) c.4013A>T (p.Lys1338Met) | ClinVar |
| 3 | g.38560250T>C | CA352146751 | SCN5A | c.4139A>G (p.Lys1380Arg) c.4142A>G (p.Lys1381Arg) c.3980A>G (p.Lys1327Arg) c.4013A>G (p.Lys1338Arg) | |
| 3 | g.38560250T>G | CA352146754 | SCN5A | c.4139A>C (p.Lys1380Thr) c.4142A>C (p.Lys1381Thr) c.3980A>C (p.Lys1327Thr) c.4013A>C (p.Lys1338Thr) | |
| 3 | g.38560255_38560257del | CA017894 | SCN5A | c.4137_4139del (p.Asn1379del) c.4140_4142del (p.Asn1380del) c.3978_3980del (p.Asn1326del) c.4011_4013del (p.Asn1337del) | ClinVar dbSNP |
| 3 | g.38560251T>A | CA352146763 | SCN5A | c.4138A>T (p.Lys1380Ter) c.4141A>T (p.Lys1381Ter) c.3979A>T (p.Lys1327Ter) c.4012A>T (p.Lys1338Ter) | |
| 3 | g.38560251T>C | CA352146760 | SCN5A | c.4138A>G (p.Lys1380Glu) c.4141A>G (p.Lys1381Glu) c.3979A>G (p.Lys1327Glu) c.4012A>G (p.Lys1338Glu) | ClinVar dbSNP |
| 3 | g.38560251T>G | CA352146764 | SCN5A | c.4138A>C (p.Lys1380Gln) c.4141A>C (p.Lys1381Gln) c.3979A>C (p.Lys1327Gln) c.4012A>C (p.Lys1338Gln) | |
| 3 | g.38560251T= | CA1358565693 | SCN5A | c.4138A= (p.Lys1380=) c.4141A= (p.Lys1381=) c.3979A= (p.Lys1327=) c.4012A= (p.Lys1338=) | |
| 3 | g.38560252G>A | CA433332380 | SCN5A | c.4137C>T (p.Asn1379=) c.4140C>T (p.Asn1380=) c.3978C>T (p.Asn1326=) c.4011C>T (p.Asn1337=) | |
| 3 | g.38560252G>C | CA017900 | SCN5A | c.4137C>G (p.Asn1379Lys) c.4140C>G (p.Asn1380Lys) c.3978C>G (p.Asn1326Lys) c.4011C>G (p.Asn1337Lys) | ClinVar dbSNP |
| 3 | g.38560252G= | CA1358565694 | SCN5A | c.4137C= (p.Asn1379=) c.4140C= (p.Asn1380=) c.3978C= (p.Asn1326=) c.4011C= (p.Asn1337=) | |
| 3 | g.38560252G>T | CA352146767 | SCN5A | c.4137C>A (p.Asn1379Lys) c.4140C>A (p.Asn1380Lys) c.3978C>A (p.Asn1326Lys) c.4011C>A (p.Asn1337Lys) | |
| 3 | g.38560253T>A | CA352146770 | SCN5A | c.4136A>T (p.Asn1379Ile) c.4139A>T (p.Asn1380Ile) c.3977A>T (p.Asn1326Ile) c.4010A>T (p.Asn1337Ile) | |
| 3 | g.38560253T>C | CA352146771 | SCN5A | c.4136A>G (p.Asn1379Ser) c.4139A>G (p.Asn1380Ser) c.3977A>G (p.Asn1326Ser) c.4010A>G (p.Asn1337Ser) | |
| 3 | g.38560253T>G | CA352146773 | SCN5A | c.4136A>C (p.Asn1379Thr) c.4139A>C (p.Asn1380Thr) c.3977A>C (p.Asn1326Thr) c.4010A>C (p.Asn1337Thr) | |
| 3 | g.38560254T>A | CA352146776 | SCN5A | c.4135A>T (p.Asn1379Tyr) c.4138A>T (p.Asn1380Tyr) c.3976A>T (p.Asn1326Tyr) c.4009A>T (p.Asn1337Tyr) | |
| 3 | g.38560254T>C | CA352146778 | SCN5A | c.4135A>G (p.Asn1379Asp) c.4138A>G (p.Asn1380Asp) c.3976A>G (p.Asn1326Asp) c.4009A>G (p.Asn1337Asp) | |
| 3 | g.38560254T>G | CA352146780 | SCN5A | c.4135A>C (p.Asn1379His) c.4138A>C (p.Asn1380His) c.3976A>C (p.Asn1326His) c.4009A>C (p.Asn1337His) | |
| 3 | g.38560255G>A | CA433332382 | SCN5A | c.4134C>T (p.Asn1378=) c.4137C>T (p.Asn1379=) c.3975C>T (p.Asn1325=) c.4008C>T (p.Asn1336=) | |
| 3 | g.38560255G>C | CA352146783 | SCN5A | c.4134C>G (p.Asn1378Lys) c.4137C>G (p.Asn1379Lys) c.3975C>G (p.Asn1325Lys) c.4008C>G (p.Asn1336Lys) | |
| 3 | g.38560255G>T | CA352146785 | SCN5A | c.4134C>A (p.Asn1378Lys) c.4137C>A (p.Asn1379Lys) c.3975C>A (p.Asn1325Lys) c.4008C>A (p.Asn1336Lys) | |
| 3 | g.38560256T>A | CA352146791 | SCN5A | c.4133A>T (p.Asn1378Ile) c.4136A>T (p.Asn1379Ile) c.3974A>T (p.Asn1325Ile) c.4007A>T (p.Asn1336Ile) | |
| 3 | g.38560256T>C | CA352146789 | SCN5A | c.4133A>G (p.Asn1378Ser) c.4136A>G (p.Asn1379Ser) c.3974A>G (p.Asn1325Ser) c.4007A>G (p.Asn1336Ser) | ClinVar dbSNP |
| 3 | g.38560256T>G | CA352146787 | SCN5A | c.4133A>C (p.Asn1378Thr) c.4136A>C (p.Asn1379Thr) c.3974A>C (p.Asn1325Thr) c.4007A>C (p.Asn1336Thr) | |
| 3 | g.38560256T= | CA1358565695 | SCN5A | c.4133A= (p.Asn1378=) c.4136A= (p.Asn1379=) c.3974A= (p.Asn1325=) c.4007A= (p.Asn1336=) | |
| 3 | g.38560257T>A | CA352146793 | SCN5A | c.4132A>T (p.Asn1378Tyr) c.4135A>T (p.Asn1379Tyr) c.3973A>T (p.Asn1325Tyr) c.4006A>T (p.Asn1336Tyr) | gnomAD v4 |
| 3 | g.38560257T>C | CA352146795 | SCN5A | c.4132A>G (p.Asn1378Asp) c.4135A>G (p.Asn1379Asp) c.3973A>G (p.Asn1325Asp) c.4006A>G (p.Asn1336Asp) | |
| 3 | g.38560257T>G | CA352146798 | SCN5A | c.4132A>C (p.Asn1378His) c.4135A>C (p.Asn1379His) c.3973A>C (p.Asn1325His) c.4006A>C (p.Asn1336His) | |
| 3 | g.38560258C>A | CA433332383 | SCN5A | c.4131G>T (p.Val1377=) c.4134G>T (p.Val1378=) c.3972G>T (p.Val1324=) c.4005G>T (p.Val1335=) | |
| 3 | g.38560258C= | CA1358565696 | SCN5A | c.4131G= (p.Val1377=) c.4134G= (p.Val1378=) c.3972G= (p.Val1324=) c.4005G= (p.Val1335=) | |
| 3 | g.38560258C>G | CA433332384 | SCN5A | c.4131G>C (p.Val1377=) c.4134G>C (p.Val1378=) c.3972G>C (p.Val1324=) c.4005G>C (p.Val1335=) | |
| 3 | g.38560258C>T | CA72944778 | SCN5A | c.4131G>A (p.Val1377=) c.4134G>A (p.Val1378=) c.3972G>A (p.Val1324=) c.4005G>A (p.Val1335=) | dbSNP COSMIC |
| 3 | g.38560259A>C | CA352146803 | SCN5A | c.4130T>G (p.Val1377Gly) c.4133T>G (p.Val1378Gly) c.3971T>G (p.Val1324Gly) c.4004T>G (p.Val1335Gly) | |
| 3 | g.38560259A>G | CA352146805 | SCN5A | c.4130T>C (p.Val1377Ala) c.4133T>C (p.Val1378Ala) c.3971T>C (p.Val1324Ala) c.4004T>C (p.Val1335Ala) | |
| 3 | g.38560259A>T | CA352146808 | SCN5A | c.4130T>A (p.Val1377Glu) c.4133T>A (p.Val1378Glu) c.3971T>A (p.Val1324Glu) c.4004T>A (p.Val1335Glu) | |
| 3 | g.38560260C>A | CA352146811 | SCN5A | c.4129G>T (p.Val1377Leu) c.4132G>T (p.Val1378Leu) c.3970G>T (p.Val1324Leu) c.4003G>T (p.Val1335Leu) | dbSNP |
| 3 | g.38560260C= | CA1358565697 | SCN5A | c.4129G= (p.Val1377=) c.4132G= (p.Val1378=) c.3970G= (p.Val1324=) c.4003G= (p.Val1335=) | |
| 3 | g.38560260C>G | CA352146814 | SCN5A | c.4129G>C (p.Val1377Leu) c.4132G>C (p.Val1378Leu) c.3970G>C (p.Val1324Leu) c.4003G>C (p.Val1335Leu) | |
| 3 | g.38560260C>T | CA062884 | SCN5A | c.4129G>A (p.Val1377Met) c.4132G>A (p.Val1378Met) c.3970G>A (p.Val1324Met) c.4003G>A (p.Val1335Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) | |
| 3 | g.38560275A>T | CA352146888 | SCN5A | c.4114T>A (p.Leu1372Met) c.4117T>A (p.Leu1373Met) c.3955T>A (p.Leu1319Met) c.3988T>A (p.Leu1330Met) | |
| 3 | g.38560276A>C | CA433332395 | SCN5A | c.4113T>G (p.Pro1371=) c.4116T>G (p.Pro1372=) c.3954T>G (p.Pro1318=) c.3987T>G (p.Pro1329=) | |
| 3 | g.38560276A>G | CA433332396 | SCN5A | c.4113T>C (p.Pro1371=) c.4116T>C (p.Pro1372=) c.3954T>C (p.Pro1318=) c.3987T>C (p.Pro1329=) | |
| 3 | g.38560276A>T | CA433332397 | SCN5A | c.4113T>A (p.Pro1371=) c.4116T>A (p.Pro1372=) c.3954T>A (p.Pro1318=) c.3987T>A (p.Pro1329=) | |
| 3 | g.38560277G>A | CA352146890 | SCN5A | c.4112C>T (p.Pro1371Leu) c.4115C>T (p.Pro1372Leu) c.3953C>T (p.Pro1318Leu) c.3986C>T (p.Pro1329Leu) | |
| 3 | g.38560277G>C | CA352146893 | SCN5A | c.4112C>G (p.Pro1371Arg) c.4115C>G (p.Pro1372Arg) c.3953C>G (p.Pro1318Arg) c.3986C>G (p.Pro1329Arg) | |
| 3 | g.38560277G>T | CA352146895 | SCN5A | c.4112C>A (p.Pro1371His) c.4115C>A (p.Pro1372His) c.3953C>A (p.Pro1318His) c.3986C>A (p.Pro1329His) | |
| 3 | g.38560278G>A | CA352146899 | SCN5A | c.4111C>T (p.Pro1371Ser) c.4114C>T (p.Pro1372Ser) c.3952C>T (p.Pro1318Ser) c.3985C>T (p.Pro1329Ser) | |
| 3 | g.38560278G>C | CA352146902 | SCN5A | c.4111C>G (p.Pro1371Ala) c.4114C>G (p.Pro1372Ala) c.3952C>G (p.Pro1318Ala) c.3985C>G (p.Pro1329Ala) | |
| 3 | g.38560278G>T | CA352146903 | SCN5A | c.4111C>A (p.Pro1371Thr) c.4114C>A (p.Pro1372Thr) c.3952C>A (p.Pro1318Thr) c.3985C>A (p.Pro1329Thr) | |
| 3 | g.38560279C>A | CA352146905 | SCN5A | c.4110G>T (p.Leu1370Phe) c.4113G>T (p.Leu1371Phe) c.3951G>T (p.Leu1317Phe) c.3984G>T (p.Leu1328Phe) | gnomAD v4 |
| 3 | g.38560279C= | CA1358565703 | SCN5A | c.4110G= (p.Leu1370=) c.4113G= (p.Leu1371=) c.3951G= (p.Leu1317=) c.3984G= (p.Leu1328=) | |
| 3 | g.38560279C>G | CA352146908 | SCN5A | c.4110G>C (p.Leu1370Phe) c.4113G>C (p.Leu1371Phe) c.3951G>C (p.Leu1317Phe) c.3984G>C (p.Leu1328Phe) | |
| 3 | g.38560279C>T | CA433332399 | SCN5A | c.4110G>A (p.Leu1370=) c.4113G>A (p.Leu1371=) c.3951G>A (p.Leu1317=) c.3984G>A (p.Leu1328=) | ClinVar dbSNP |
| 3 | g.38560280A= | CA1358565704 | SCN5A | c.4109T= (p.Leu1370=) c.4112T= (p.Leu1371=) c.3950T= (p.Leu1317=) c.3983T= (p.Leu1328=) | |
| 3 | g.38560280A>C | CA352146911 | SCN5A | c.4109T>G (p.Leu1370Trp) c.4112T>G (p.Leu1371Trp) c.3950T>G (p.Leu1317Trp) c.3983T>G (p.Leu1328Trp) | |
| 3 | g.38560280A>G | CA352146913 | SCN5A | c.4109T>C (p.Leu1370Ser) c.4112T>C (p.Leu1371Ser) c.3950T>C (p.Leu1317Ser) c.3983T>C (p.Leu1328Ser) | |
| 3 | g.38560280A>T | CA352146916 | SCN5A | c.4109T>A (p.Leu1370Ter) c.4112T>A (p.Leu1371Ter) c.3950T>A (p.Leu1317Ter) c.3983T>A (p.Leu1328Ter) | dbSNP |
| 3 | g.38560281A>C | CA352146918 | SCN5A | c.4108T>G (p.Leu1370Val) c.4111T>G (p.Leu1371Val) c.3949T>G (p.Leu1317Val) c.3982T>G (p.Leu1328Val) | ClinVar |
| 3 | g.38560281A>G | CA433332400 | SCN5A | c.4108T>C (p.Leu1370=) c.4111T>C (p.Leu1371=) c.3949T>C (p.Leu1317=) c.3982T>C (p.Leu1328=) | |
| 3 | g.38560281A>T | CA352146920 | SCN5A | c.4108T>A (p.Leu1370Met) c.4111T>A (p.Leu1371Met) c.3949T>A (p.Leu1317Met) c.3982T>A (p.Leu1328Met) | |
| 3 | g.38560282G>A | CA433332401 | SCN5A | c.4107C>T (p.Asp1369=) c.4110C>T (p.Asp1370=) c.3948C>T (p.Asp1316=) c.3981C>T (p.Asp1327=) | |
| 3 | g.38560282G>C | CA352146925 | SCN5A | c.4107C>G (p.Asp1369Glu) c.4110C>G (p.Asp1370Glu) c.3948C>G (p.Asp1316Glu) c.3981C>G (p.Asp1327Glu) | |
| 3 | g.38560282G>T | CA352146923 | SCN5A | c.4107C>A (p.Asp1369Glu) c.4110C>A (p.Asp1370Glu) c.3948C>A (p.Asp1316Glu) c.3981C>A (p.Asp1327Glu) | |
| 3 | g.38560283T>A | CA352146929 | SCN5A | c.4106A>T (p.Asp1369Val) c.4109A>T (p.Asp1370Val) c.3947A>T (p.Asp1316Val) c.3980A>T (p.Asp1327Val) | |
| 3 | g.38560283T>C | CA017888 | SCN5A | c.4106A>G (p.Asp1369Gly) c.4109A>G (p.Asp1370Gly) c.3947A>G (p.Asp1316Gly) c.3980A>G (p.Asp1327Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560283T>G | CA352146932 | SCN5A | c.4106A>C (p.Asp1369Ala) c.4109A>C (p.Asp1370Ala) c.3947A>C (p.Asp1316Ala) c.3980A>C (p.Asp1327Ala) | dbSNP gnomAD v2 |
| 3 | g.38560283T= | CA1358565705 | SCN5A | c.4106A= (p.Asp1369=) c.4109A= (p.Asp1370=) c.3947A= (p.Asp1316=) c.3980A= (p.Asp1327=) | |
| 3 | g.38560284C>A | CA352146936 | SCN5A | c.4105G>T (p.Asp1369Tyr) c.4108G>T (p.Asp1370Tyr) c.3946G>T (p.Asp1316Tyr) c.3979G>T (p.Asp1327Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38560284C>G | CA352146939 | SCN5A | c.4105G>C (p.Asp1369His) c.4108G>C (p.Asp1370His) c.3946G>C (p.Asp1316His) c.3979G>C (p.Asp1327His) | |
| 3 | g.38560284C>T | CA352146941 | SCN5A | c.4105G>A (p.Asp1369Asn) c.4108G>A (p.Asp1370Asn) c.3946G>A (p.Asp1316Asn) c.3979G>A (p.Asp1327Asn) | ClinVar |
| 3 | g.38560285T>A | CA433332402 | SCN5A | c.4104A>T (p.Gly1368=) c.4107A>T (p.Gly1369=) c.3945A>T (p.Gly1315=) c.3978A>T (p.Gly1326=) | |
| 3 | g.38560285T>C | CA433332403 | SCN5A | c.4104A>G (p.Gly1368=) c.4107A>G (p.Gly1369=) c.3945A>G (p.Gly1315=) c.3978A>G (p.Gly1326=) | |
| 3 | g.38560285T>G | CA433332404 | SCN5A | c.4104A>C (p.Gly1368=) c.4107A>C (p.Gly1369=) c.3945A>C (p.Gly1315=) c.3978A>C (p.Gly1326=) | |
| 3 | g.38560286C>A | CA352146945 | SCN5A | c.4103G>T (p.Gly1368Val) c.4106G>T (p.Gly1369Val) c.3944G>T (p.Gly1315Val) c.3977G>T (p.Gly1326Val) | |
| 3 | g.38560286C>G | CA352146942 | SCN5A | c.4103G>C (p.Gly1368Ala) c.4106G>C (p.Gly1369Ala) c.3944G>C (p.Gly1315Ala) c.3977G>C (p.Gly1326Ala) | |
| 3 | g.38560286C>T | CA352146944 | SCN5A | c.4103G>A (p.Gly1368Glu) c.4106G>A (p.Gly1369Glu) c.3944G>A (p.Gly1315Glu) c.3977G>A (p.Gly1326Glu) | ClinVar |
| 3 | g.38560287C>A | CA352146947 | SCN5A | c.4102G>T (p.Gly1368Ter) c.4105G>T (p.Gly1369Ter) c.3943G>T (p.Gly1315Ter) c.3976G>T (p.Gly1326Ter) | dbSNP |
| 3 | g.38560287C= | CA1358565706 | SCN5A | c.4102G= (p.Gly1368=) c.4105G= (p.Gly1369=) c.3943G= (p.Gly1315=) c.3976G= (p.Gly1326=) | |
| 3 | g.38560287C>G | CA352146949 | SCN5A | c.4102G>C (p.Gly1368Arg) c.4105G>C (p.Gly1369Arg) c.3943G>C (p.Gly1315Arg) c.3976G>C (p.Gly1326Arg) | |
| 3 | g.38560287C>T | CA352146952 | SCN5A | c.4102G>A (p.Gly1368Arg) c.4105G>A (p.Gly1369Arg) c.3943G>A (p.Gly1315Arg) c.3976G>A (p.Gly1326Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560288C>A | CA352146955 | SCN5A | c.4101G>T (p.Glu1367Asp) c.4104G>T (p.Glu1368Asp) c.3942G>T (p.Glu1314Asp) c.3975G>T (p.Glu1325Asp) | |
| 3 | g.38560288C>G | CA352146957 | SCN5A | c.4101G>C (p.Glu1367Asp) c.4104G>C (p.Glu1368Asp) c.3942G>C (p.Glu1314Asp) c.3975G>C (p.Glu1325Asp) | |
| 3 | g.38560288C>T | CA433332406 | SCN5A | c.4101G>A (p.Glu1367=) c.4104G>A (p.Glu1368=) c.3942G>A (p.Glu1314=) c.3975G>A (p.Glu1325=) | |
| 3 | g.38560289T>A | CA352146960 | SCN5A | c.4100A>T (p.Glu1367Val) c.4103A>T (p.Glu1368Val) c.3941A>T (p.Glu1314Val) c.3974A>T (p.Glu1325Val) | |
| 3 | g.38560289T>C | CA352146964 | SCN5A | c.4100A>G (p.Glu1367Gly) c.4103A>G (p.Glu1368Gly) c.3941A>G (p.Glu1314Gly) c.3974A>G (p.Glu1325Gly) | |
| 3 | g.38560289T>G | CA352146962 | SCN5A | c.4100A>C (p.Glu1367Ala) c.4103A>C (p.Glu1368Ala) c.3941A>C (p.Glu1314Ala) c.3974A>C (p.Glu1325Ala) | |
| 3 | g.38560290C>A | CA352146968 | SCN5A | c.4099G>T (p.Glu1367Ter) c.4102G>T (p.Glu1368Ter) c.3940G>T (p.Glu1314Ter) c.3973G>T (p.Glu1325Ter) | dbSNP |
| 3 | g.38560290C= | CA1358565707 | SCN5A | c.4099G= (p.Glu1367=) c.4102G= (p.Glu1368=) c.3940G= (p.Glu1314=) c.3973G= (p.Glu1325=) | |
| 3 | g.38560290C>G | CA352146971 | SCN5A | c.4099G>C (p.Glu1367Gln) c.4102G>C (p.Glu1368Gln) c.3940G>C (p.Glu1314Gln) c.3973G>C (p.Glu1325Gln) | |
| 3 | g.38560290C>T | CA352146973 | SCN5A | c.4099G>A (p.Glu1367Lys) c.4102G>A (p.Glu1368Lys) c.3940G>A (p.Glu1314Lys) c.3973G>A (p.Glu1325Lys) | |
| 3 | g.38560291T>A | CA433332408 | SCN5A | c.4098A>T (p.Thr1366=) c.4101A>T (p.Thr1367=) c.3939A>T (p.Thr1313=) c.3972A>T (p.Thr1324=) | |
| 3 | g.38560291T>C | CA062842 | SCN5A | c.4098A>G (p.Thr1366=) c.4101A>G (p.Thr1367=) c.3939A>G (p.Thr1313=) c.3972A>G (p.Thr1324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560291T>G | CA433332409 | SCN5A | c.4098A>C (p.Thr1366=) c.4101A>C (p.Thr1367=) c.3939A>C (p.Thr1313=) c.3972A>C (p.Thr1324=) | |
| 3 | g.38560291T= | CA1358565708 | SCN5A | c.4098A= (p.Thr1366=) c.4101A= (p.Thr1367=) c.3939A= (p.Thr1313=) c.3972A= (p.Thr1324=) | |
| 3 | g.38560292G>A | CA352146980 | SCN5A | c.4097C>T (p.Thr1366Ile) c.4100C>T (p.Thr1367Ile) c.3938C>T (p.Thr1313Ile) c.3971C>T (p.Thr1324Ile) | gnomAD v4 |
| 3 | g.38560292G>C | CA352146982 | SCN5A | c.4097C>G (p.Thr1366Arg) c.4100C>G (p.Thr1367Arg) c.3938C>G (p.Thr1313Arg) c.3971C>G (p.Thr1324Arg) | |
| 3 | g.38560292G>T | CA352146985 | SCN5A | c.4097C>A (p.Thr1366Lys) c.4100C>A (p.Thr1367Lys) c.3938C>A (p.Thr1313Lys) c.3971C>A (p.Thr1324Lys) | |
| 3 | g.38560293T>A | CA352146987 | SCN5A | c.4096A>T (p.Thr1366Ser) c.4099A>T (p.Thr1367Ser) c.3937A>T (p.Thr1313Ser) c.3970A>T (p.Thr1324Ser) | |
| 3 | g.38560293T>C | CA352146990 | SCN5A | c.4096A>G (p.Thr1366Ala) c.4099A>G (p.Thr1367Ala) c.3937A>G (p.Thr1313Ala) c.3970A>G (p.Thr1324Ala) | |
| 3 | g.38560293T>G | CA352146994 | SCN5A | c.4096A>C (p.Thr1366Pro) c.4099A>C (p.Thr1367Pro) c.3937A>C (p.Thr1313Pro) c.3970A>C (p.Thr1324Pro) | ClinVar dbSNP |
| 3 | g.38560293T= | CA1358565709 | SCN5A | c.4096A= (p.Thr1366=) c.4099A= (p.Thr1367=) c.3937A= (p.Thr1313=) c.3970A= (p.Thr1324=) | |
| 3 | g.38560294C>A | CA062827 | SCN5A | c.4095G>T (p.Gln1365His) c.4098G>T (p.Gln1366His) c.3936G>T (p.Gln1312His) c.3969G>T (p.Gln1323His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560294C= | CA1358565710 | SCN5A | c.4095G= (p.Gln1365=) c.4098G= (p.Gln1366=) c.3936G= (p.Gln1312=) c.3969G= (p.Gln1323=) | |
| 3 | g.38560294C>G | CA352146999 | SCN5A | c.4095G>C (p.Gln1365His) c.4098G>C (p.Gln1366His) c.3936G>C (p.Gln1312His) c.3969G>C (p.Gln1323His) | |
| 3 | g.38560294C>T | CA433332413 | SCN5A | c.4095G>A (p.Gln1365=) c.4098G>A (p.Gln1366=) c.3936G>A (p.Gln1312=) c.3969G>A (p.Gln1323=) | |
| 3 | g.38560295T>A | CA352147015 | SCN5A | c.4094A>T (p.Gln1365Leu) c.4097A>T (p.Gln1366Leu) c.3935A>T (p.Gln1312Leu) c.3968A>T (p.Gln1323Leu) | gnomAD v4 |
| 3 | g.38560295T>C | CA062822 | SCN5A | c.4094A>G (p.Gln1365Arg) c.4097A>G (p.Gln1366Arg) c.3935A>G (p.Gln1312Arg) c.3968A>G (p.Gln1323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560295T>G | CA352147004 | SCN5A | c.4094A>C (p.Gln1365Pro) c.4097A>C (p.Gln1366Pro) c.3935A>C (p.Gln1312Pro) c.3968A>C (p.Gln1323Pro) | |
| 3 | g.38560295T= | CA1358565711 | SCN5A | c.4094A= (p.Gln1365=) c.4097A= (p.Gln1366=) c.3935A= (p.Gln1312=) c.3968A= (p.Gln1323=) | |
| 3 | g.38560296G>A | CA352147018 | SCN5A | c.4093C>T (p.Gln1365Ter) c.4096C>T (p.Gln1366Ter) c.3934C>T (p.Gln1312Ter) c.3967C>T (p.Gln1323Ter) | |
| 3 | g.38560296G>C | CA352147020 | SCN5A | c.4093C>G (p.Gln1365Glu) c.4096C>G (p.Gln1366Glu) c.3934C>G (p.Gln1312Glu) c.3967C>G (p.Gln1323Glu) | |
| 3 | g.38560296G>T | CA352147023 | SCN5A | c.4093C>A (p.Gln1365Lys) c.4096C>A (p.Gln1366Lys) c.3934C>A (p.Gln1312Lys) c.3967C>A (p.Gln1323Lys) | |
| 3 | g.38560297G>A | CA433332416 | SCN5A | c.4092C>T (p.Asn1364=) c.4095C>T (p.Asn1365=) c.3933C>T (p.Asn1311=) c.3966C>T (p.Asn1322=) | |
| 3 | g.38560297G>C | CA352147026 | SCN5A | c.4092C>G (p.Asn1364Lys) c.4095C>G (p.Asn1365Lys) c.3933C>G (p.Asn1311Lys) c.3966C>G (p.Asn1322Lys) | |
| 3 | g.38560297G>T | CA352147028 | SCN5A | c.4092C>A (p.Asn1364Lys) c.4095C>A (p.Asn1365Lys) c.3933C>A (p.Asn1311Lys) c.3966C>A (p.Asn1322Lys) | gnomAD v4 |
| 3 | g.38560298T>A | CA352147032 | SCN5A | c.4091A>T (p.Asn1364Ile) c.4094A>T (p.Asn1365Ile) c.3932A>T (p.Asn1311Ile) c.3965A>T (p.Asn1322Ile) | |
| 3 | g.38560298T>C | CA352147034 | SCN5A | c.4091A>G (p.Asn1364Ser) c.4094A>G (p.Asn1365Ser) c.3932A>G (p.Asn1311Ser) c.3965A>G (p.Asn1322Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560298T>G | CA352147036 | SCN5A | c.4091A>C (p.Asn1364Thr) c.4094A>C (p.Asn1365Thr) c.3932A>C (p.Asn1311Thr) c.3965A>C (p.Asn1322Thr) | |
| 3 | g.38560299T>A | CA352147039 | SCN5A | c.4090A>T (p.Asn1364Tyr) c.4093A>T (p.Asn1365Tyr) c.3931A>T (p.Asn1311Tyr) c.3964A>T (p.Asn1322Tyr) | |
| 3 | g.38560299T>C | CA352147041 | SCN5A | c.4090A>G (p.Asn1364Asp) c.4093A>G (p.Asn1365Asp) c.3931A>G (p.Asn1311Asp) c.3964A>G (p.Asn1322Asp) | |
| 3 | g.38560299T>G | CA352147044 | SCN5A | c.4090A>C (p.Asn1364His) c.4093A>C (p.Asn1365His) c.3931A>C (p.Asn1311His) c.3964A>C (p.Asn1322His) | |
| 3 | g.38560300G>A | CA433332417 | SCN5A | c.4089C>T (p.Ile1363=) c.4092C>T (p.Ile1364=) c.3930C>T (p.Ile1310=) c.3963C>T (p.Ile1321=) | |
| 3 | g.38560300G>C | CA352147046 | SCN5A | c.4089C>G (p.Ile1363Met) c.4092C>G (p.Ile1364Met) c.3930C>G (p.Ile1310Met) c.3963C>G (p.Ile1321Met) | |
| 3 | g.38560300G>T | CA433332418 | SCN5A | c.4089C>A (p.Ile1363=) c.4092C>A (p.Ile1364=) c.3930C>A (p.Ile1310=) c.3963C>A (p.Ile1321=) | |
| 3 | g.38560301A>C | CA352147049 | SCN5A | c.4088T>G (p.Ile1363Ser) c.4091T>G (p.Ile1364Ser) c.3929T>G (p.Ile1310Ser) c.3962T>G (p.Ile1321Ser) | |
| 3 | g.38560301A>G | CA352147055 | SCN5A | c.4088T>C (p.Ile1363Thr) c.4091T>C (p.Ile1364Thr) c.3929T>C (p.Ile1310Thr) c.3962T>C (p.Ile1321Thr) | |
| 3 | g.38560301A>T | CA352147052 | SCN5A | c.4088T>A (p.Ile1363Asn) c.4091T>A (p.Ile1364Asn) c.3929T>A (p.Ile1310Asn) c.3962T>A (p.Ile1321Asn) | |
| 3 | g.38560302T>A | CA352147057 | SCN5A | c.4087A>T (p.Ile1363Phe) c.4090A>T (p.Ile1364Phe) c.3928A>T (p.Ile1310Phe) c.3961A>T (p.Ile1321Phe) | |
| 3 | g.38560302T>C | CA72944803 | SCN5A | c.4087A>G (p.Ile1363Val) c.4090A>G (p.Ile1364Val) c.3928A>G (p.Ile1310Val) c.3961A>G (p.Ile1321Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560302T>G | CA352147060 | SCN5A | c.4087A>C (p.Ile1363Leu) c.4090A>C (p.Ile1364Leu) c.3928A>C (p.Ile1310Leu) c.3961A>C (p.Ile1321Leu) | ClinVar dbSNP |
| 3 | g.38560302T= | CA1358565712 | SCN5A | c.4087A= (p.Ile1363=) c.4090A= (p.Ile1364=) c.3928A= (p.Ile1310=) c.3961A= (p.Ile1321=) | |
| 3 | g.38560303G>A | CA433332421 | SCN5A | c.4086C>T (p.Cys1362=) c.4089C>T (p.Cys1363=) c.3927C>T (p.Cys1309=) c.3960C>T (p.Cys1320=) | ClinVar dbSNP |
| 3 | g.38560303G>C | CA352147065 | SCN5A | c.4086C>G (p.Cys1362Trp) c.4089C>G (p.Cys1363Trp) c.3927C>G (p.Cys1309Trp) c.3960C>G (p.Cys1320Trp) | |
| 3 | g.38560303G= | CA1358565713 | SCN5A | c.4086C= (p.Cys1362=) c.4089C= (p.Cys1363=) c.3927C= (p.Cys1309=) c.3960C= (p.Cys1320=) | |
| 3 | g.38560303G>T | CA352147067 | SCN5A | c.4086C>A (p.Cys1362Ter) c.4089C>A (p.Cys1363Ter) c.3927C>A (p.Cys1309Ter) c.3960C>A (p.Cys1320Ter) | dbSNP |
| 3 | g.38560304del | CA2499216734 | SCN5A | c.4085del (p.Cys1362SerfsTer11) c.4088del (p.Cys1363SerfsTer11) c.3926del (p.Cys1309SerfsTer11) c.3959del (p.Cys1320SerfsTer11) | ClinVar dbSNP |
| 3 | g.38560304C>A | CA352147070 | SCN5A | c.4085G>T (p.Cys1362Phe) c.4088G>T (p.Cys1363Phe) c.3926G>T (p.Cys1309Phe) c.3959G>T (p.Cys1320Phe) | |
| 3 | g.38560304C= | CA1358565714 | SCN5A | c.4085G= (p.Cys1362=) c.4088G= (p.Cys1363=) c.3926G= (p.Cys1309=) c.3959G= (p.Cys1320=) | |
| 3 | g.38560304C>G | CA352147072 | SCN5A | c.4085G>C (p.Cys1362Ser) c.4088G>C (p.Cys1363Ser) c.3926G>C (p.Cys1309Ser) c.3959G>C (p.Cys1320Ser) | |
| 3 | g.38560304C>T | CA017882 | SCN5A | c.4085G>A (p.Cys1362Tyr) c.4088G>A (p.Cys1363Tyr) c.3926G>A (p.Cys1309Tyr) c.3959G>A (p.Cys1320Tyr) | ClinVar dbSNP |
| 3 | g.38560305A>C | CA352147074 | SCN5A | c.4084T>G (p.Cys1362Gly) c.4087T>G (p.Cys1363Gly) c.3925T>G (p.Cys1309Gly) c.3958T>G (p.Cys1320Gly) | |
| 3 | g.38560305A>G | CA352147076 | SCN5A | c.4084T>C (p.Cys1362Arg) c.4087T>C (p.Cys1363Arg) c.3925T>C (p.Cys1309Arg) c.3958T>C (p.Cys1320Arg) | |
| 3 | g.38560305A>T | CA352147078 | SCN5A | c.4084T>A (p.Cys1362Ser) c.4087T>A (p.Cys1363Ser) c.3925T>A (p.Cys1309Ser) c.3958T>A (p.Cys1320Ser) | |
| 3 | g.38560306C>A | CA062817 | SCN5A | c.4083G>T (p.Arg1361Ser) c.4086G>T (p.Arg1362Ser) c.3924G>T (p.Arg1308Ser) c.3957G>T (p.Arg1319Ser) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560306C= | CA1358565715 | SCN5A | c.4083G= (p.Arg1361=) c.4086G= (p.Arg1362=) c.3924G= (p.Arg1308=) c.3957G= (p.Arg1319=) | |
| 3 | g.38560306C>G | CA352147081 | SCN5A | c.4083G>C (p.Arg1361Ser) c.4086G>C (p.Arg1362Ser) c.3924G>C (p.Arg1308Ser) c.3957G>C (p.Arg1319Ser) | |
| 3 | g.38560306C>T | CA017877 | SCN5A | c.4083G>A (p.Arg1361=) c.4086G>A (p.Arg1362=) c.3924G>A (p.Arg1308=) c.3957G>A (p.Arg1319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560307del | CA2586965774 | SCN5A | c.4083del (p.Arg1361SerfsTer12) c.4086del (p.Arg1362SerfsTer12) c.3924del (p.Arg1308SerfsTer12) c.3957del (p.Arg1319SerfsTer12) | |
| 3 | g.38560307C>A | CA352147088 | SCN5A | c.4082G>T (p.Arg1361Met) c.4085G>T (p.Arg1362Met) c.3923G>T (p.Arg1308Met) c.3956G>T (p.Arg1319Met) | |
| 3 | g.38560307C= | CA1358565716 | SCN5A | c.4082G= (p.Arg1361=) c.4085G= (p.Arg1362=) c.3923G= (p.Arg1308=) c.3956G= (p.Arg1319=) | |
| 3 | g.38560307C>G | CA352147084 | SCN5A | c.4082G>C (p.Arg1361Thr) c.4085G>C (p.Arg1362Thr) c.3923G>C (p.Arg1308Thr) c.3956G>C (p.Arg1319Thr) | |
| 3 | g.38560307C>T | CA352147086 | SCN5A | c.4082G>A (p.Arg1361Lys) c.4085G>A (p.Arg1362Lys) c.3923G>A (p.Arg1308Lys) c.3956G>A (p.Arg1319Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560308T>A | CA352147089 | SCN5A | c.4081A>T (p.Arg1361Trp) c.4084A>T (p.Arg1362Trp) c.3922A>T (p.Arg1308Trp) c.3955A>T (p.Arg1319Trp) | |
| 3 | g.38560308T>C | CA352147090 | SCN5A | c.4081A>G (p.Arg1361Gly) c.4084A>G (p.Arg1362Gly) c.3922A>G (p.Arg1308Gly) c.3955A>G (p.Arg1319Gly) | |
| 3 | g.38560308T>G | CA433332427 | SCN5A | c.4081A>C (p.Arg1361=) c.4084A>C (p.Arg1362=) c.3922A>C (p.Arg1308=) c.3955A>C (p.Arg1319=) | |
| 3 | g.38560309C>A | CA433332428 | SCN5A | c.4080G>T (p.Gly1360=) c.4083G>T (p.Gly1361=) c.3921G>T (p.Gly1307=) c.3954G>T (p.Gly1318=) | |
| 3 | g.38560309C>G | CA433332429 | SCN5A | c.4080G>C (p.Gly1360=) c.4083G>C (p.Gly1361=) c.3921G>C (p.Gly1307=) c.3954G>C (p.Gly1318=) | |
| 3 | g.38560309C>T | CA433332430 | SCN5A | c.4080G>A (p.Gly1360=) c.4083G>A (p.Gly1361=) c.3921G>A (p.Gly1307=) c.3954G>A (p.Gly1318=) | |
| 3 | g.38560311del | CA2586965775 | SCN5A | c.4080del (p.Arg1361GlyfsTer12) c.4083del (p.Arg1362GlyfsTer12) c.3921del (p.Arg1308GlyfsTer12) c.3954del (p.Arg1319GlyfsTer12) | |
| 3 | g.38560310C>A | CA352147092 | SCN5A | c.4079G>T (p.Gly1360Val) c.4082G>T (p.Gly1361Val) c.3920G>T (p.Gly1307Val) c.3953G>T (p.Gly1318Val) | |
| 3 | g.38560310C>G | CA352147093 | SCN5A | c.4079G>C (p.Gly1360Ala) c.4082G>C (p.Gly1361Ala) c.3920G>C (p.Gly1307Ala) c.3953G>C (p.Gly1318Ala) | |
| 3 | g.38560310C>T | CA352147096 | SCN5A | c.4079G>A (p.Gly1360Glu) c.4082G>A (p.Gly1361Glu) c.3920G>A (p.Gly1307Glu) c.3953G>A (p.Gly1318Glu) | ClinVar dbSNP |
| 3 | g.38560311C>A | CA352147098 | SCN5A | c.4078G>T (p.Gly1360Trp) c.4081G>T (p.Gly1361Trp) c.3919G>T (p.Gly1307Trp) c.3952G>T (p.Gly1318Trp) | |
| 3 | g.38560311C>G | CA352147100 | SCN5A | c.4078G>C (p.Gly1360Arg) c.4081G>C (p.Gly1361Arg) c.3919G>C (p.Gly1307Arg) c.3952G>C (p.Gly1318Arg) | |
| 3 | g.38560311C>T | CA352147102 | SCN5A | c.4078G>A (p.Gly1360Arg) c.4081G>A (p.Gly1361Arg) c.3919G>A (p.Gly1307Arg) c.3952G>A (p.Gly1318Arg) | |
| 3 | g.38560312A>C | CA352147105 | SCN5A | c.4077T>G (p.Phe1359Leu) c.4080T>G (p.Phe1360Leu) c.3918T>G (p.Phe1306Leu) c.3951T>G (p.Phe1317Leu) | |
| 3 | g.38560312A>G | CA433332434 | SCN5A | c.4077T>C (p.Phe1359=) c.4080T>C (p.Phe1360=) c.3918T>C (p.Phe1306=) c.3951T>C (p.Phe1317=) | |
| 3 | g.38560312A>T | CA352147107 | SCN5A | c.4077T>A (p.Phe1359Leu) c.4080T>A (p.Phe1360Leu) c.3918T>A (p.Phe1306Leu) c.3951T>A (p.Phe1317Leu) | |
| 3 | g.38560313A= | CA1358565717 | SCN5A | c.4076T= (p.Phe1359=) c.4079T= (p.Phe1360=) c.3917T= (p.Phe1306=) c.3950T= (p.Phe1317=) | |
| 3 | g.38560313A>C | CA017864 | SCN5A | c.4076T>G (p.Phe1359Cys) c.4079T>G (p.Phe1360Cys) c.3917T>G (p.Phe1306Cys) c.3950T>G (p.Phe1317Cys) | ClinVar dbSNP |
| 3 | g.38560313A>G | CA352147114 | SCN5A | c.4076T>C (p.Phe1359Ser) c.4079T>C (p.Phe1360Ser) c.3917T>C (p.Phe1306Ser) c.3950T>C (p.Phe1317Ser) | ClinVar |
| 3 | g.38560313A>T | CA352147110 | SCN5A | c.4076T>A (p.Phe1359Tyr) c.4079T>A (p.Phe1360Tyr) c.3917T>A (p.Phe1306Tyr) c.3950T>A (p.Phe1317Tyr) | |
| 3 | g.38560314A>C | CA352147118 | SCN5A | c.4075T>G (p.Phe1359Val) c.4078T>G (p.Phe1360Val) c.3916T>G (p.Phe1306Val) c.3949T>G (p.Phe1317Val) | |
| 3 | g.38560314A>G | CA352147119 | SCN5A | c.4075T>C (p.Phe1359Leu) c.4078T>C (p.Phe1360Leu) c.3916T>C (p.Phe1306Leu) c.3949T>C (p.Phe1317Leu) | |
| 3 | g.38560314A>T | CA352147121 | SCN5A | c.4075T>A (p.Phe1359Ile) c.4078T>A (p.Phe1360Ile) c.3916T>A (p.Phe1306Ile) c.3949T>A (p.Phe1317Ile) | |
| 3 | g.38560315C>A | CA017858 | SCN5A | c.4074G>T (p.Lys1358Asn) c.4077G>T (p.Lys1359Asn) c.3915G>T (p.Lys1305Asn) c.3948G>T (p.Lys1316Asn) | ClinVar dbSNP |
| 3 | g.38560315C= | CA1358565718 | SCN5A | c.4074G= (p.Lys1358=) c.4077G= (p.Lys1359=) c.3915G= (p.Lys1305=) c.3948G= (p.Lys1316=) | |
| 3 | g.38560315C>G | CA352147126 | SCN5A | c.4074G>C (p.Lys1358Asn) c.4077G>C (p.Lys1359Asn) c.3915G>C (p.Lys1305Asn) c.3948G>C (p.Lys1316Asn) | |
| 3 | g.38560315C>T | CA062806 | SCN5A | c.4074G>A (p.Lys1358=) c.4077G>A (p.Lys1359=) c.3915G>A (p.Lys1305=) c.3948G>A (p.Lys1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560316T>A | CA062799 | SCN5A | c.4073A>T (p.Lys1358Met) c.4076A>T (p.Lys1359Met) c.3914A>T (p.Lys1305Met) c.3947A>T (p.Lys1316Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560316T>C | CA352147134 | SCN5A | c.4073A>G (p.Lys1358Arg) c.4076A>G (p.Lys1359Arg) c.3914A>G (p.Lys1305Arg) c.3947A>G (p.Lys1316Arg) | |
| 3 | g.38560316T>G | CA352147136 | SCN5A | c.4073A>C (p.Lys1358Thr) c.4076A>C (p.Lys1359Thr) c.3914A>C (p.Lys1305Thr) c.3947A>C (p.Lys1316Thr) | ClinVar dbSNP |
| 3 | g.38560316T= | CA1358565719 | SCN5A | c.4073A= (p.Lys1358=) c.4076A= (p.Lys1359=) c.3914A= (p.Lys1305=) c.3947A= (p.Lys1316=) | |
| 3 | g.38560317T>A | CA352147138 | SCN5A | c.4072A>T (p.Lys1358Ter) c.4075A>T (p.Lys1359Ter) c.3913A>T (p.Lys1305Ter) c.3946A>T (p.Lys1316Ter) | dbSNP |
| 3 | g.38560317T>C | CA352147141 | SCN5A | c.4072A>G (p.Lys1358Glu) c.4075A>G (p.Lys1359Glu) c.3913A>G (p.Lys1305Glu) c.3946A>G (p.Lys1316Glu) | |
| 3 | g.38560317T>G | CA352147144 | SCN5A | c.4072A>C (p.Lys1358Gln) c.4075A>C (p.Lys1359Gln) c.3913A>C (p.Lys1305Gln) c.3946A>C (p.Lys1316Gln) | |
| 3 | g.38560317T= | CA1358565720 | SCN5A | c.4072A= (p.Lys1358=) c.4075A= (p.Lys1359=) c.3913A= (p.Lys1305=) c.3946A= (p.Lys1316=) | |
| 3 | g.38560318C>A | CA433332442 | SCN5A | c.4071G>T (p.Gly1357=) c.4074G>T (p.Gly1358=) c.3912G>T (p.Gly1304=) c.3945G>T (p.Gly1315=) | |
| 3 | g.38560318C= | CA1358565721 | SCN5A | c.4071G= (p.Gly1357=) c.4074G= (p.Gly1358=) c.3912G= (p.Gly1304=) c.3945G= (p.Gly1315=) | |
| 3 | g.38560318C>G | CA433332443 | SCN5A | c.4071G>C (p.Gly1357=) c.4074G>C (p.Gly1358=) c.3912G>C (p.Gly1304=) c.3945G>C (p.Gly1315=) | |
| 3 | g.38560318C>T | CA062794 | SCN5A | c.4071G>A (p.Gly1357=) c.4074G>A (p.Gly1358=) c.3912G>A (p.Gly1304=) c.3945G>A (p.Gly1315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560319C>A | CA352147160 | SCN5A | c.4070G>T (p.Gly1357Val) c.4073G>T (p.Gly1358Val) c.3911G>T (p.Gly1304Val) c.3944G>T (p.Gly1315Val) | |
| 3 | g.38560319C= | CA1358565722 | SCN5A | c.4070G= (p.Gly1357=) c.4073G= (p.Gly1358=) c.3911G= (p.Gly1304=) c.3944G= (p.Gly1315=) | |
| 3 | g.38560319C>G | CA352147158 | SCN5A | c.4070G>C (p.Gly1357Ala) c.4073G>C (p.Gly1358Ala) c.3911G>C (p.Gly1304Ala) c.3944G>C (p.Gly1315Ala) | |
| 3 | g.38560319C>T | CA352147155 | SCN5A | c.4070G>A (p.Gly1357Glu) c.4073G>A (p.Gly1358Glu) c.3911G>A (p.Gly1304Glu) c.3944G>A (p.Gly1315Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560320C>A | CA017852 | SCN5A | c.4069G>T (p.Gly1357Trp) c.4072G>T (p.Gly1358Trp) c.3910G>T (p.Gly1304Trp) c.3943G>T (p.Gly1315Trp) | ClinVar dbSNP |
| 3 | g.38560320C= | CA1358565723 | SCN5A | c.4069G= (p.Gly1357=) c.4072G= (p.Gly1358=) c.3910G= (p.Gly1304=) c.3943G= (p.Gly1315=) | |
| 3 | g.38560320C>G | CA352147166 | SCN5A | c.4069G>C (p.Gly1357Arg) c.4072G>C (p.Gly1358Arg) c.3910G>C (p.Gly1304Arg) c.3943G>C (p.Gly1315Arg) | |
| 3 | g.38560320C>T | CA352147167 | SCN5A | c.4069G>A (p.Gly1357Arg) c.4072G>A (p.Gly1358Arg) c.3910G>A (p.Gly1304Arg) c.3943G>A (p.Gly1315Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560321C>A | CA433332444 | SCN5A | c.4068G>T (p.Ala1356=) c.4071G>T (p.Ala1357=) c.3909G>T (p.Ala1303=) c.3942G>T (p.Ala1314=) | gnomAD v3 gnomAD v4 |
| 3 | g.38560321C= | CA1358565724 | SCN5A | c.4068G= (p.Ala1356=) c.4071G= (p.Ala1357=) c.3909G= (p.Ala1303=) c.3942G= (p.Ala1314=) | |
| 3 | g.38560321C>G | CA433332445 | SCN5A | c.4068G>C (p.Ala1356=) c.4071G>C (p.Ala1357=) c.3909G>C (p.Ala1303=) c.3942G>C (p.Ala1314=) | ClinVar dbSNP |
| 3 | g.38560321C>T | CA062789 | SCN5A | c.4068G>A (p.Ala1356=) c.4071G>A (p.Ala1357=) c.3909G>A (p.Ala1303=) c.3942G>A (p.Ala1314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560322G>A | CA017845 | SCN5A | c.4067C>T (p.Ala1356Val) c.4070C>T (p.Ala1357Val) c.3908C>T (p.Ala1303Val) c.3941C>T (p.Ala1314Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560322G>C | CA352147173 | SCN5A | c.4067C>G (p.Ala1356Gly) c.4070C>G (p.Ala1357Gly) c.3908C>G (p.Ala1303Gly) c.3941C>G (p.Ala1314Gly) | gnomAD v4 |
| 3 | g.38560322G= | CA1358565725 | SCN5A | c.4067C= (p.Ala1356=) c.4070C= (p.Ala1357=) c.3908C= (p.Ala1303=) c.3941C= (p.Ala1314=) | |
| 3 | g.38560322G>T | CA352147176 | SCN5A | c.4067C>A (p.Ala1356Glu) c.4070C>A (p.Ala1357Glu) c.3908C>A (p.Ala1303Glu) c.3941C>A (p.Ala1314Glu) | gnomAD v4 |
| 3 | g.38560323C>A | CA352147177 | SCN5A | c.4066G>T (p.Ala1356Ser) c.4069G>T (p.Ala1357Ser) c.3907G>T (p.Ala1303Ser) c.3940G>T (p.Ala1314Ser) | gnomAD v4 |
| 3 | g.38560323C>G | CA352147178 | SCN5A | c.4066G>C (p.Ala1356Pro) c.4069G>C (p.Ala1357Pro) c.3907G>C (p.Ala1303Pro) c.3940G>C (p.Ala1314Pro) | |
| 3 | g.38560323C>T | CA352147179 | SCN5A | c.4066G>A (p.Ala1356Thr) c.4069G>A (p.Ala1357Thr) c.3907G>A (p.Ala1303Thr) c.3940G>A (p.Ala1314Thr) | |
| 3 | g.38560324A= | CA1358565726 | SCN5A | c.4065T= (p.Phe1355=) c.4068T= (p.Phe1356=) c.3906T= (p.Phe1302=) c.3939T= (p.Phe1313=) | |
| 3 | g.38560324A>C | CA352147182 | SCN5A | c.4065T>G (p.Phe1355Leu) c.4068T>G (p.Phe1356Leu) c.3906T>G (p.Phe1302Leu) c.3939T>G (p.Phe1313Leu) | |
| 3 | g.38560324A>G | CA433332446 | SCN5A | c.4065T>C (p.Phe1355=) c.4068T>C (p.Phe1356=) c.3906T>C (p.Phe1302=) c.3939T>C (p.Phe1313=) | ClinVar dbSNP |
| 3 | g.38560324A>T | CA352147184 | SCN5A | c.4065T>A (p.Phe1355Leu) c.4068T>A (p.Phe1356Leu) c.3906T>A (p.Phe1302Leu) c.3939T>A (p.Phe1313Leu) | |
| 3 | g.38560325_38560326del | CA2586965778 | SCN5A | c.4064_4065del (p.Phe1355CysfsTer29) c.4067_4068del (p.Phe1356CysfsTer29) c.3905_3906del (p.Phe1302CysfsTer29) c.3938_3939del (p.Phe1313CysfsTer29) | |
| 3 | g.38560325A>C | CA352147189 | SCN5A | c.4064T>G (p.Phe1355Cys) c.4067T>G (p.Phe1356Cys) c.3905T>G (p.Phe1302Cys) c.3938T>G (p.Phe1313Cys) | |
| 3 | g.38560325A>G | CA352147188 | SCN5A | c.4064T>C (p.Phe1355Ser) c.4067T>C (p.Phe1356Ser) c.3905T>C (p.Phe1302Ser) c.3938T>C (p.Phe1313Ser) | |
| 3 | g.38560325A>T | CA352147186 | SCN5A | c.4064T>A (p.Phe1355Tyr) c.4067T>A (p.Phe1356Tyr) c.3905T>A (p.Phe1302Tyr) c.3938T>A (p.Phe1313Tyr) | |
| 3 | g.38560326A>C | CA352147192 | SCN5A | c.4063T>G (p.Phe1355Val) c.4066T>G (p.Phe1356Val) c.3904T>G (p.Phe1302Val) c.3937T>G (p.Phe1313Val) | |
| 3 | g.38560326A>G | CA352147208 | SCN5A | c.4063T>C (p.Phe1355Leu) c.4066T>C (p.Phe1356Leu) c.3904T>C (p.Phe1302Leu) c.3937T>C (p.Phe1313Leu) | |
| 3 | g.38560326A>T | CA352147195 | SCN5A | c.4063T>A (p.Phe1355Ile) c.4066T>A (p.Phe1356Ile) c.3904T>A (p.Phe1302Ile) c.3937T>A (p.Phe1313Ile) | |
| 3 | g.38560327G>A | CA72944832 | SCN5A | c.4062C>T (p.Leu1354=) c.4065C>T (p.Leu1355=) c.3903C>T (p.Leu1301=) c.3936C>T (p.Leu1312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560327G>C | CA433332447 | SCN5A | c.4062C>G (p.Leu1354=) c.4065C>G (p.Leu1355=) c.3903C>G (p.Leu1301=) c.3936C>G (p.Leu1312=) | |
| 3 | g.38560327G= | CA1358565727 | SCN5A | c.4062C= (p.Leu1354=) c.4065C= (p.Leu1355=) c.3903C= (p.Leu1301=) c.3936C= (p.Leu1312=) | |
| 3 | g.38560327G>T | CA433332448 | SCN5A | c.4062C>A (p.Leu1354=) c.4065C>A (p.Leu1355=) c.3903C>A (p.Leu1301=) c.3936C>A (p.Leu1312=) | |
| 3 | g.38560328A= | CA1358565728 | SCN5A | c.4061T= (p.Leu1354=) c.4064T= (p.Leu1355=) c.3902T= (p.Leu1301=) c.3935T= (p.Leu1312=) | |
| 3 | g.38560328A>C | CA352147211 | SCN5A | c.4061T>G (p.Leu1354Arg) c.4064T>G (p.Leu1355Arg) c.3902T>G (p.Leu1301Arg) c.3935T>G (p.Leu1312Arg) | |
| 3 | g.38560328A>G | CA352147218 | SCN5A | c.4061T>C (p.Leu1354Pro) c.4064T>C (p.Leu1355Pro) c.3902T>C (p.Leu1301Pro) c.3935T>C (p.Leu1312Pro) | ClinVar dbSNP |
| 3 | g.38560328A>T | CA352147214 | SCN5A | c.4061T>A (p.Leu1354His) c.4064T>A (p.Leu1355His) c.3902T>A (p.Leu1301His) c.3935T>A (p.Leu1312His) | |
| 3 | g.38560328_38560332dup | CA2665111487 | SCN5A | c.4057_4061dup (p.Phe1355ThrfsTer20) c.4060_4064dup (p.Phe1356ThrfsTer20) c.3898_3902dup (p.Phe1302ThrfsTer20) c.3931_3935dup (p.Phe1313ThrfsTer20) | gnomAD v4 |
| 3 | g.38560329G>A | CA352147219 | SCN5A | c.4060C>T (p.Leu1354Phe) c.4063C>T (p.Leu1355Phe) c.3901C>T (p.Leu1301Phe) c.3934C>T (p.Leu1312Phe) | |
| 3 | g.38560329G>C | CA352147223 | SCN5A | c.4060C>G (p.Leu1354Val) c.4063C>G (p.Leu1355Val) c.3901C>G (p.Leu1301Val) c.3934C>G (p.Leu1312Val) | |
| 3 | g.38560329G>T | CA352147220 | SCN5A | c.4060C>A (p.Leu1354Ile) c.4063C>A (p.Leu1355Ile) c.3901C>A (p.Leu1301Ile) c.3934C>A (p.Leu1312Ile) | |
| 3 | g.38560329_38560330delinsGG | CA1358565729 | SCN5A | c.4059_4060delinsCC (p.Asn1353=) c.4062_4063delinsCC (p.Asn1354=) c.3900_3901delinsCC (p.Asn1300=) c.3933_3934delinsCC (p.Asn1311=) | |
| 3 | g.38560329_38560330delinsTT | CA1139657974 | SCN5A | c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle) c.4062_4063delinsAA (p.Asn1354_Leu1355delinsLysIle) c.3900_3901delinsAA (p.Asn1300_Leu1301delinsLysIle) c.3933_3934delinsAA (p.Asn1311_Leu1312delinsLysIle) | ClinVar dbSNP |
| 3 | g.38560330G>A | CA433332450 | SCN5A | c.4059C>T (p.Asn1353=) c.4062C>T (p.Asn1354=) c.3900C>T (p.Asn1300=) c.3933C>T (p.Asn1311=) | |
| 3 | g.38560330G>C | CA352147227 | SCN5A | c.4059C>G (p.Asn1353Lys) c.4062C>G (p.Asn1354Lys) c.3900C>G (p.Asn1300Lys) c.3933C>G (p.Asn1311Lys) | |
| 3 | g.38560330G= | CA1358565730 | SCN5A | c.4059C= (p.Asn1353=) c.4062C= (p.Asn1354=) c.3900C= (p.Asn1300=) c.3933C= (p.Asn1311=) | |
| 3 | g.38560330G>T | CA352147230 | SCN5A | c.4059C>A (p.Asn1353Lys) c.4062C>A (p.Asn1354Lys) c.3900C>A (p.Asn1300Lys) c.3933C>A (p.Asn1311Lys) | dbSNP |
| 3 | g.38560331T>A | CA352147231 | SCN5A | c.4058A>T (p.Asn1353Ile) c.4061A>T (p.Asn1354Ile) c.3899A>T (p.Asn1300Ile) c.3932A>T (p.Asn1311Ile) | |
| 3 | g.38560331T>C | CA352147233 | SCN5A | c.4058A>G (p.Asn1353Ser) c.4061A>G (p.Asn1354Ser) c.3899A>G (p.Asn1300Ser) c.3932A>G (p.Asn1311Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38560331T>G | CA352147235 | SCN5A | c.4058A>C (p.Asn1353Thr) c.4061A>C (p.Asn1354Thr) c.3899A>C (p.Asn1300Thr) c.3932A>C (p.Asn1311Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38560332T>A | CA352147236 | SCN5A | c.4057A>T (p.Asn1353Tyr) c.4060A>T (p.Asn1354Tyr) c.3898A>T (p.Asn1300Tyr) c.3931A>T (p.Asn1311Tyr) | |
| 3 | g.38560332T>C | CA352147238 | SCN5A | c.4057A>G (p.Asn1353Asp) c.4060A>G (p.Asn1354Asp) c.3898A>G (p.Asn1300Asp) c.3931A>G (p.Asn1311Asp) | |
| 3 | g.38560332T>G | CA72944835 | SCN5A | c.4057A>C (p.Asn1353His) c.4060A>C (p.Asn1354His) c.3898A>C (p.Asn1300His) c.3931A>C (p.Asn1311His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38560332T= | CA1358565731 | SCN5A | c.4057A= (p.Asn1353=) c.4060A= (p.Asn1354=) c.3898A= (p.Asn1300=) c.3931A= (p.Asn1311=) | |
| 3 | g.38560333C>A | CA433332451 | SCN5A | c.4056G>T (p.Val1352=) c.4059G>T (p.Val1353=) c.3897G>T (p.Val1299=) c.3930G>T (p.Val1310=) | ClinVar |
| 3 | g.38560333C= | CA1358565732 | SCN5A | c.4056G= (p.Val1352=) c.4059G= (p.Val1353=) c.3897G= (p.Val1299=) c.3930G= (p.Val1310=) | |
| 3 | g.38560333C>G | CA433332452 | SCN5A | c.4056G>C (p.Val1352=) c.4059G>C (p.Val1353=) c.3897G>C (p.Val1299=) c.3930G>C (p.Val1310=) | |
| 3 | g.38560333C>T | CA062777 | SCN5A | c.4056G>A (p.Val1352=) c.4059G>A (p.Val1353=) c.3897G>A (p.Val1299=) c.3930G>A (p.Val1310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560334A>C | CA352147243 | SCN5A | c.4055T>G (p.Val1352Gly) c.4058T>G (p.Val1353Gly) c.3896T>G (p.Val1299Gly) c.3929T>G (p.Val1310Gly) | |
| 3 | g.38560334A>G | CA352147246 | SCN5A | c.4055T>C (p.Val1352Ala) c.4058T>C (p.Val1353Ala) c.3896T>C (p.Val1299Ala) c.3929T>C (p.Val1310Ala) | |
| 3 | g.38560334A>T | CA352147248 | SCN5A | c.4055T>A (p.Val1352Glu) c.4058T>A (p.Val1353Glu) c.3896T>A (p.Val1299Glu) c.3929T>A (p.Val1310Glu) | |
| 3 | g.38560335C>A | CA352147250 | SCN5A | c.4054G>T (p.Val1352Leu) c.4057G>T (p.Val1353Leu) c.3895G>T (p.Val1299Leu) c.3928G>T (p.Val1310Leu) | |
| 3 | g.38560335C= | CA1358565733 | SCN5A | c.4054G= (p.Val1352=) c.4057G= (p.Val1353=) c.3895G= (p.Val1299=) c.3928G= (p.Val1310=) | |
| 3 | g.38560335C>G | CA352147252 | SCN5A | c.4054G>C (p.Val1352Leu) c.4057G>C (p.Val1353Leu) c.3895G>C (p.Val1299Leu) c.3928G>C (p.Val1310Leu) | |
| 3 | g.38560335C>T | CA017837 | SCN5A | c.4054G>A (p.Val1352Met) c.4057G>A (p.Val1353Met) c.3895G>A (p.Val1299Met) c.3928G>A (p.Val1310Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38560336G>A | CA017831 | SCN5A | c.4053C>T (p.Gly1351=) c.4056C>T (p.Gly1352=) c.3894C>T (p.Gly1298=) c.3927C>T (p.Gly1309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560336G>C | CA433332456 | SCN5A | c.4053C>G (p.Gly1351=) c.4056C>G (p.Gly1352=) c.3894C>G (p.Gly1298=) c.3927C>G (p.Gly1309=) | |
| 3 | g.38560336G= | CA1358565734 | SCN5A | c.4053C= (p.Gly1351=) c.4056C= (p.Gly1352=) c.3894C= (p.Gly1298=) c.3927C= (p.Gly1309=) | |
| 3 | g.38560336G>T | CA433332457 | SCN5A | c.4053C>A (p.Gly1351=) c.4056C>A (p.Gly1352=) c.3894C>A (p.Gly1298=) c.3927C>A (p.Gly1309=) | |
| 3 | g.38560337C>A | CA352147256 | SCN5A | c.4052G>T (p.Gly1351Val) c.4055G>T (p.Gly1352Val) c.3893G>T (p.Gly1298Val) c.3926G>T (p.Gly1309Val) | |
| 3 | g.38560337C>G | CA352147259 | SCN5A | c.4052G>C (p.Gly1351Ala) c.4055G>C (p.Gly1352Ala) c.3893G>C (p.Gly1298Ala) c.3926G>C (p.Gly1309Ala) | |
| 3 | g.38560337C>T | CA352147261 | SCN5A | c.4052G>A (p.Gly1351Asp) c.4055G>A (p.Gly1352Asp) c.3893G>A (p.Gly1298Asp) c.3926G>A (p.Gly1309Asp) | |
| 3 | g.38560338C>A | CA352147263 | SCN5A | c.4051G>T (p.Gly1351Cys) c.4054G>T (p.Gly1352Cys) c.3892G>T (p.Gly1298Cys) c.3925G>T (p.Gly1309Cys) | |
| 3 | g.38560338C>G | CA352147269 | SCN5A | c.4051G>C (p.Gly1351Arg) c.4054G>C (p.Gly1352Arg) c.3892G>C (p.Gly1298Arg) c.3925G>C (p.Gly1309Arg) | |
| 3 | g.38560338C>T | CA352147271 | SCN5A | c.4051G>A (p.Gly1351Ser) c.4054G>A (p.Gly1352Ser) c.3892G>A (p.Gly1298Ser) c.3925G>A (p.Gly1309Ser) | |
| 3 | g.38560339C>A | CA352147274 | SCN5A | c.4050G>T (p.Met1350Ile) c.4053G>T (p.Met1351Ile) c.3891G>T (p.Met1297Ile) c.3924G>T (p.Met1308Ile) | ClinVar |
| 3 | g.38560339C>G | CA352147276 | SCN5A | c.4050G>C (p.Met1350Ile) c.4053G>C (p.Met1351Ile) c.3891G>C (p.Met1297Ile) c.3924G>C (p.Met1308Ile) | |
| 3 | g.38560339C>T | CA352147278 | SCN5A | c.4050G>A (p.Met1350Ile) c.4053G>A (p.Met1351Ile) c.3891G>A (p.Met1297Ile) c.3924G>A (p.Met1308Ile) | |
| 3 | g.38560340A= | CA1358565735 | SCN5A | c.4049T= (p.Met1350=) c.4052T= (p.Met1351=) c.3890T= (p.Met1297=) c.3923T= (p.Met1308=) | |
| 3 | g.38560340A>C | CA017824 | SCN5A | c.4049T>G (p.Met1350Arg) c.4052T>G (p.Met1351Arg) c.3890T>G (p.Met1297Arg) c.3923T>G (p.Met1308Arg) | ClinVar dbSNP |
| 3 | g.38560340A>G | CA352147281 | SCN5A | c.4049T>C (p.Met1350Thr) c.4052T>C (p.Met1351Thr) c.3890T>C (p.Met1297Thr) c.3923T>C (p.Met1308Thr) | |
| 3 | g.38560340A>T | CA352147282 | SCN5A | c.4049T>A (p.Met1350Lys) c.4052T>A (p.Met1351Lys) c.3890T>A (p.Met1297Lys) c.3923T>A (p.Met1308Lys) | |
| 3 | g.38560341T>A | CA352147288 | SCN5A | c.4048A>T (p.Met1350Leu) c.4051A>T (p.Met1351Leu) c.3889A>T (p.Met1297Leu) c.3922A>T (p.Met1308Leu) | |
| 3 | g.38560341T>C | CA352147287 | SCN5A | c.4048A>G (p.Met1350Val) c.4051A>G (p.Met1351Val) c.3889A>G (p.Met1297Val) c.3922A>G (p.Met1308Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560341T>G | CA352147285 | SCN5A | c.4048A>C (p.Met1350Leu) c.4051A>C (p.Met1351Leu) c.3889A>C (p.Met1297Leu) c.3922A>C (p.Met1308Leu) | |
| 3 | g.38560341T= | CA1358565736 | SCN5A | c.4048A= (p.Met1350=) c.4051A= (p.Met1351=) c.3889A= (p.Met1297=) c.3922A= (p.Met1308=) | |
| 3 | g.38560342G>A | CA433332461 | SCN5A | c.4047C>T (p.Ile1349=) c.4050C>T (p.Ile1350=) c.3888C>T (p.Ile1296=) c.3921C>T (p.Ile1307=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38560342G>C | CA352147290 | SCN5A | c.4047C>G (p.Ile1349Met) c.4050C>G (p.Ile1350Met) c.3888C>G (p.Ile1296Met) c.3921C>G (p.Ile1307Met) | |
| 3 | g.38560342G= | CA1358565737 | SCN5A | c.4047C= (p.Ile1349=) c.4050C= (p.Ile1350=) c.3888C= (p.Ile1296=) c.3921C= (p.Ile1307=) | |
| 3 | g.38560342G>T | CA433332462 | SCN5A | c.4047C>A (p.Ile1349=) c.4050C>A (p.Ile1350=) c.3888C>A (p.Ile1296=) c.3921C>A (p.Ile1307=) | |
| 3 | g.38560343A= | CA1358565738 | SCN5A | c.4046T= (p.Ile1349=) c.4049T= (p.Ile1350=) c.3887T= (p.Ile1296=) c.3920T= (p.Ile1307=) | |
| 3 | g.38560343A>C | CA352147293 | SCN5A | c.4046T>G (p.Ile1349Ser) c.4049T>G (p.Ile1350Ser) c.3887T>G (p.Ile1296Ser) c.3920T>G (p.Ile1307Ser) | |
| 3 | g.38560343A>G | CA017817 | SCN5A | c.4046T>C (p.Ile1349Thr) c.4049T>C (p.Ile1350Thr) c.3887T>C (p.Ile1296Thr) c.3920T>C (p.Ile1307Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560343A>T | CA352147294 | SCN5A | c.4046T>A (p.Ile1349Asn) c.4049T>A (p.Ile1350Asn) c.3887T>A (p.Ile1296Asn) c.3920T>A (p.Ile1307Asn) | |
| 3 | g.38560344T>A | CA352147296 | SCN5A | c.4045A>T (p.Ile1349Phe) c.4048A>T (p.Ile1350Phe) c.3886A>T (p.Ile1296Phe) c.3919A>T (p.Ile1307Phe) | ClinVar dbSNP |
| 3 | g.38560344T>C | CA352147298 | SCN5A | c.4045A>G (p.Ile1349Val) c.4048A>G (p.Ile1350Val) c.3886A>G (p.Ile1296Val) c.3919A>G (p.Ile1307Val) | |
| 3 | g.38560344T>G | CA062762 | SCN5A | c.4045A>C (p.Ile1349Leu) c.4048A>C (p.Ile1350Leu) c.3886A>C (p.Ile1296Leu) c.3919A>C (p.Ile1307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560344T= | CA1358565739 | SCN5A | c.4045A= (p.Ile1349=) c.4048A= (p.Ile1350=) c.3886A= (p.Ile1296=) c.3919A= (p.Ile1307=) | |
| 3 | g.38560345G>A | CA433332466 | SCN5A | c.4044C>T (p.Ser1348=) c.4047C>T (p.Ser1349=) c.3885C>T (p.Ser1295=) c.3918C>T (p.Ser1306=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560345G>C | CA352147301 | SCN5A | c.4044C>G (p.Ser1348Arg) c.4047C>G (p.Ser1349Arg) c.3885C>G (p.Ser1295Arg) c.3918C>G (p.Ser1306Arg) | |
| 3 | g.38560345G= | CA1358565740 | SCN5A | c.4044C= (p.Ser1348=) c.4047C= (p.Ser1349=) c.3885C= (p.Ser1295=) c.3918C= (p.Ser1306=) | |
| 3 | g.38560345G>T | CA352147303 | SCN5A | c.4044C>A (p.Ser1348Arg) c.4047C>A (p.Ser1349Arg) c.3885C>A (p.Ser1295Arg) c.3918C>A (p.Ser1306Arg) | |
| 3 | g.38560346C>A | CA352147313 | SCN5A | c.4043G>T (p.Ser1348Ile) c.4046G>T (p.Ser1349Ile) c.3884G>T (p.Ser1295Ile) c.3917G>T (p.Ser1306Ile) | |
| 3 | g.38560346C>G | CA352147314 | SCN5A | c.4043G>C (p.Ser1348Thr) c.4046G>C (p.Ser1349Thr) c.3884G>C (p.Ser1295Thr) c.3917G>C (p.Ser1306Thr) | |
| 3 | g.38560346C>T | CA352147316 | SCN5A | c.4043G>A (p.Ser1348Asn) c.4046G>A (p.Ser1349Asn) c.3884G>A (p.Ser1295Asn) c.3917G>A (p.Ser1306Asn) | gnomAD v4 |
| 3 | g.38560346_38560358delinsA | CA2739278200 | SCN5A | c.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe) c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe) c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe) c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe) | ClinVar |
| 3 | g.38560347_38560358del | CA2573136263 | SCN5A | c.4032_4043del (p.Trp1344_Ser1348delinsCys) c.4035_4046del (p.Trp1345_Ser1349delinsCys) c.3873_3884del (p.Trp1291_Ser1295delinsCys) c.3906_3917del (p.Trp1302_Ser1306delinsCys) | dbSNP |
| 3 | g.38560347T>A | CA352147324 | SCN5A | c.4042A>T (p.Ser1348Cys) c.4045A>T (p.Ser1349Cys) c.3883A>T (p.Ser1295Cys) c.3916A>T (p.Ser1306Cys) | |
| 3 | g.38560347T>C | CA352147321 | SCN5A | c.4042A>G (p.Ser1348Gly) c.4045A>G (p.Ser1349Gly) c.3883A>G (p.Ser1295Gly) c.3916A>G (p.Ser1306Gly) | |
| 3 | g.38560347T>G | CA352147319 | SCN5A | c.4042A>C (p.Ser1348Arg) c.4045A>C (p.Ser1349Arg) c.3883A>C (p.Ser1295Arg) c.3916A>C (p.Ser1306Arg) | |
| 3 | g.38560348G>A | CA062758 | SCN5A | c.4041C>T (p.Phe1347=) c.4044C>T (p.Phe1348=) c.3882C>T (p.Phe1294=) c.3915C>T (p.Phe1305=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560348G>C | CA352147328 | SCN5A | c.4041C>G (p.Phe1347Leu) c.4044C>G (p.Phe1348Leu) c.3882C>G (p.Phe1294Leu) c.3915C>G (p.Phe1305Leu) | |
| 3 | g.38560348G= | CA1358565741 | SCN5A | c.4041C= (p.Phe1347=) c.4044C= (p.Phe1348=) c.3882C= (p.Phe1294=) c.3915C= (p.Phe1305=) | |
| 3 | g.38560348G>T | CA352147332 | SCN5A | c.4041C>A (p.Phe1347Leu) c.4044C>A (p.Phe1348Leu) c.3882C>A (p.Phe1294Leu) c.3915C>A (p.Phe1305Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560357_38560368del | CA2755901968 | SCN5A | c.4030_4041del (p.Trp1344_Phe1347del) c.4033_4044del (p.Trp1345_Phe1348del) c.3871_3882del (p.Trp1291_Phe1294del) c.3904_3915del (p.Trp1302_Phe1305del) | |
| 3 | g.38560349A>C | CA352147335 | SCN5A | c.4040T>G (p.Phe1347Cys) c.4043T>G (p.Phe1348Cys) c.3881T>G (p.Phe1294Cys) c.3914T>G (p.Phe1305Cys) | |
| 3 | g.38560349A>G | CA352147337 | SCN5A | c.4040T>C (p.Phe1347Ser) c.4043T>C (p.Phe1348Ser) c.3881T>C (p.Phe1294Ser) c.3914T>C (p.Phe1305Ser) | |
| 3 | g.38560349A>T | CA352147340 | SCN5A | c.4040T>A (p.Phe1347Tyr) c.4043T>A (p.Phe1348Tyr) c.3881T>A (p.Phe1294Tyr) c.3914T>A (p.Phe1305Tyr) |