| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560240A= | CA1358565687 | SCN5A | c.4149T= (p.Cys1383=) c.4152T= (p.Cys1384=) c.3990T= (p.Cys1330=) c.4023T= (p.Cys1341=) | |
| 3 | g.38560240A>C | CA352146690 | SCN5A | c.4149T>G (p.Cys1383Trp) c.4152T>G (p.Cys1384Trp) c.3990T>G (p.Cys1330Trp) c.4023T>G (p.Cys1341Trp) | gnomAD v4 |
| 3 | g.38560240A>G | CA433332370 | SCN5A | c.4149T>C (p.Cys1383=) c.4152T>C (p.Cys1384=) c.3990T>C (p.Cys1330=) c.4023T>C (p.Cys1341=) | |
| 3 | g.38560240A>T | CA352146691 | SCN5A | c.4149T>A (p.Cys1383Ter) c.4152T>A (p.Cys1384Ter) c.3990T>A (p.Cys1330Ter) c.4023T>A (p.Cys1341Ter) | dbSNP |
| 3 | g.38560241C>A | CA352146693 | SCN5A | c.4148G>T (p.Cys1383Phe) c.4151G>T (p.Cys1384Phe) c.3989G>T (p.Cys1330Phe) c.4022G>T (p.Cys1341Phe) | |
| 3 | g.38560241C= | CA1358565688 | SCN5A | c.4148G= (p.Cys1383=) c.4151G= (p.Cys1384=) c.3989G= (p.Cys1330=) c.4022G= (p.Cys1341=) | |
| 3 | g.38560241C>G | CA352146694 | SCN5A | c.4148G>C (p.Cys1383Ser) c.4151G>C (p.Cys1384Ser) c.3989G>C (p.Cys1330Ser) c.4022G>C (p.Cys1341Ser) | |
| 3 | g.38560241C>T | CA352146695 | SCN5A | c.4148G>A (p.Cys1383Tyr) c.4151G>A (p.Cys1384Tyr) c.3989G>A (p.Cys1330Tyr) c.4022G>A (p.Cys1341Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560242A>C | CA352146696 | SCN5A | c.4147T>G (p.Cys1383Gly) c.4150T>G (p.Cys1384Gly) c.3988T>G (p.Cys1330Gly) c.4021T>G (p.Cys1341Gly) | |
| 3 | g.38560242A>G | CA352146698 | SCN5A | c.4147T>C (p.Cys1383Arg) c.4150T>C (p.Cys1384Arg) c.3988T>C (p.Cys1330Arg) c.4021T>C (p.Cys1341Arg) | ClinVar dbSNP |
| 3 | g.38560242A>T | CA352146700 | SCN5A | c.4147T>A (p.Cys1383Ser) c.4150T>A (p.Cys1384Ser) c.3988T>A (p.Cys1330Ser) c.4021T>A (p.Cys1341Ser) | |
| 3 | g.38560243C>A | CA352146702 | SCN5A | c.4146G>T (p.Gln1382His) c.4149G>T (p.Gln1383His) c.3987G>T (p.Gln1329His) c.4020G>T (p.Gln1340His) | gnomAD v4 |
| 3 | g.38560243C>G | CA352146705 | SCN5A | c.4146G>C (p.Gln1382His) c.4149G>C (p.Gln1383His) c.3987G>C (p.Gln1329His) c.4020G>C (p.Gln1340His) | |
| 3 | g.38560243C>T | CA433332373 | SCN5A | c.4146G>A (p.Gln1382=) c.4149G>A (p.Gln1383=) c.3987G>A (p.Gln1329=) c.4020G>A (p.Gln1340=) | gnomAD v4 |
| 3 | g.38560244T>A | CA352146713 | SCN5A | c.4145A>T (p.Gln1382Leu) c.4148A>T (p.Gln1383Leu) c.3986A>T (p.Gln1329Leu) c.4019A>T (p.Gln1340Leu) | |
| 3 | g.38560244T>C | CA352146711 | SCN5A | c.4145A>G (p.Gln1382Arg) c.4148A>G (p.Gln1383Arg) c.3986A>G (p.Gln1329Arg) c.4019A>G (p.Gln1340Arg) | |
| 3 | g.38560244T>G | CA352146708 | SCN5A | c.4145A>C (p.Gln1382Pro) c.4148A>C (p.Gln1383Pro) c.3986A>C (p.Gln1329Pro) c.4019A>C (p.Gln1340Pro) | ClinVar |
| 3 | g.38560245G>A | CA352146716 | SCN5A | c.4144C>T (p.Gln1382Ter) c.4147C>T (p.Gln1383Ter) c.3985C>T (p.Gln1329Ter) c.4018C>T (p.Gln1340Ter) | ClinVar dbSNP |
| 3 | g.38560245G>C | CA352146719 | SCN5A | c.4144C>G (p.Gln1382Glu) c.4147C>G (p.Gln1383Glu) c.3985C>G (p.Gln1329Glu) c.4018C>G (p.Gln1340Glu) | |
| 3 | g.38560245G= | CA1358565689 | SCN5A | c.4144C= (p.Gln1382=) c.4147C= (p.Gln1383=) c.3985C= (p.Gln1329=) c.4018C= (p.Gln1340=) | |
| 3 | g.38560245G>T | CA352146723 | SCN5A | c.4144C>A (p.Gln1382Lys) c.4147C>A (p.Gln1383Lys) c.3985C>A (p.Gln1329Lys) c.4018C>A (p.Gln1340Lys) | |
| 3 | g.38560246G>A | CA433332375 | SCN5A | c.4143C>T (p.Ser1381=) c.4146C>T (p.Ser1382=) c.3984C>T (p.Ser1328=) c.4017C>T (p.Ser1339=) | |
| 3 | g.38560246G>C | CA352146725 | SCN5A | c.4143C>G (p.Ser1381Arg) c.4146C>G (p.Ser1382Arg) c.3984C>G (p.Ser1328Arg) c.4017C>G (p.Ser1339Arg) | |
| 3 | g.38560246G>T | CA352146728 | SCN5A | c.4143C>A (p.Ser1381Arg) c.4146C>A (p.Ser1382Arg) c.3984C>A (p.Ser1328Arg) c.4017C>A (p.Ser1339Arg) | |
| 3 | g.38560247C>A | CA017913 | SCN5A | c.4142G>T (p.Ser1381Ile) c.4145G>T (p.Ser1382Ile) c.3983G>T (p.Ser1328Ile) c.4016G>T (p.Ser1339Ile) | ClinVar dbSNP |
| 3 | g.38560247C= | CA1358565690 | SCN5A | c.4142G= (p.Ser1381=) c.4145G= (p.Ser1382=) c.3983G= (p.Ser1328=) c.4016G= (p.Ser1339=) | |
| 3 | g.38560247C>G | CA352146732 | SCN5A | c.4142G>C (p.Ser1381Thr) c.4145G>C (p.Ser1382Thr) c.3983G>C (p.Ser1328Thr) c.4016G>C (p.Ser1339Thr) | |
| 3 | g.38560247C>T | CA352146735 | SCN5A | c.4142G>A (p.Ser1381Asn) c.4145G>A (p.Ser1382Asn) c.3983G>A (p.Ser1328Asn) c.4016G>A (p.Ser1339Asn) | |
| 3 | g.38560248T>A | CA352146739 | SCN5A | c.4141A>T (p.Ser1381Cys) c.4144A>T (p.Ser1382Cys) c.3982A>T (p.Ser1328Cys) c.4015A>T (p.Ser1339Cys) | |
| 3 | g.38560248T>C | CA352146741 | SCN5A | c.4141A>G (p.Ser1381Gly) c.4144A>G (p.Ser1382Gly) c.3982A>G (p.Ser1328Gly) c.4015A>G (p.Ser1339Gly) | |
| 3 | g.38560248T>G | CA352146743 | SCN5A | c.4141A>C (p.Ser1381Arg) c.4144A>C (p.Ser1382Arg) c.3982A>C (p.Ser1328Arg) c.4015A>C (p.Ser1339Arg) | |
| 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) |