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.38604011T>A | CA352147299 | SCN5A | c.1591A>T (p.Thr531Ser) c.1462A>T (p.Thr488Ser) | |
| 3 | g.38604011T>C | CA058313 | SCN5A | c.1591A>G (p.Thr531Ala) c.1462A>G (p.Thr488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604011T>G | CA352147304 | SCN5A | c.1591A>C (p.Thr531Pro) c.1462A>C (p.Thr488Pro) | |
| 3 | g.38604011T= | CA1358585009 | SCN5A | c.1591A= (p.Thr531=) c.1462A= (p.Thr488=) | |
| 3 | g.38604012G>A | CA058304 | SCN5A | c.1590C>T (p.Phe530=) c.1461C>T (p.Phe487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604012G>C | CA352147305 | SCN5A | c.1590C>G (p.Phe530Leu) c.1461C>G (p.Phe487Leu) | ClinVar dbSNP |
| 3 | g.38604012G= | CA1358585010 | SCN5A | c.1590C= (p.Phe530=) c.1461C= (p.Phe487=) | |
| 3 | g.38604012G>T | CA352147306 | SCN5A | c.1590C>A (p.Phe530Leu) c.1461C>A (p.Phe487Leu) | gnomAD v4 |
| 3 | g.38604013A= | CA1358585011 | SCN5A | c.1589T= (p.Phe530=) c.1460T= (p.Phe487=) | |
| 3 | g.38604013A>C | CA352147308 | SCN5A | c.1589T>G (p.Phe530Cys) c.1460T>G (p.Phe487Cys) | |
| 3 | g.38604013A>G | CA058282 | SCN5A | c.1589T>C (p.Phe530Ser) c.1460T>C (p.Phe487Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604013A>T | CA352147317 | SCN5A | c.1589T>A (p.Phe530Tyr) c.1460T>A (p.Phe487Tyr) | |
| 3 | g.38604016del | CA2573136267 | SCN5A | c.1589del (p.Phe530SerfsTer?) c.1460del (p.Phe487SerfsTer?) | ClinVar dbSNP |
| 3 | g.38604014A= | CA1358585012 | SCN5A | c.1588T= (p.Phe530=) c.1459T= (p.Phe487=) | |
| 3 | g.38604014A>C | CA015032 | SCN5A | c.1588T>G (p.Phe530Val) c.1459T>G (p.Phe487Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604014A>G | CA352147320 | SCN5A | c.1588T>C (p.Phe530Leu) c.1459T>C (p.Phe487Leu) | |
| 3 | g.38604014A>T | CA352147323 | SCN5A | c.1588T>A (p.Phe530Ile) c.1459T>A (p.Phe487Ile) | |
| 3 | g.38604015A= | CA1358585013 | SCN5A | c.1587T= (p.Ile529=) c.1458T= (p.Ile486=) | |
| 3 | g.38604015A>C | CA352147325 | SCN5A | c.1587T>G (p.Ile529Met) c.1458T>G (p.Ile486Met) | |
| 3 | g.38604015A>G | CA015024 | SCN5A | c.1587T>C (p.Ile529=) c.1458T>C (p.Ile486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604015A>T | CA433333244 | SCN5A | c.1587T>A (p.Ile529=) c.1458T>A (p.Ile486=) | |
| 3 | g.38604016A>C | CA352147329 | SCN5A | c.1586T>G (p.Ile529Ser) c.1457T>G (p.Ile486Ser) | gnomAD v4 |
| 3 | g.38604016A>G | CA352147331 | SCN5A | c.1586T>C (p.Ile529Thr) c.1457T>C (p.Ile486Thr) | |
| 3 | g.38604016A>T | CA352147334 | SCN5A | c.1586T>A (p.Ile529Asn) c.1457T>A (p.Ile486Asn) | |
| 3 | g.38604017T>A | CA352147339 | SCN5A | c.1585A>T (p.Ile529Phe) c.1456A>T (p.Ile486Phe) | |
| 3 | g.38604017T>C | CA352147341 | SCN5A | c.1585A>G (p.Ile529Val) c.1456A>G (p.Ile486Val) | |
| 3 | g.38604017T>G | CA352147342 | SCN5A | c.1585A>C (p.Ile529Leu) c.1456A>C (p.Ile486Leu) | |
| 3 | g.38604017_38604019delinsTGC | CA1358585014 | SCN5A | c.1583_1585delinsGCA (p.Ser528=) c.1454_1456delinsGCA (p.Ser485=) | |
| 3 | g.38604018G>A | CA433333250 | SCN5A | c.1584C>T (p.Ser528=) c.1455C>T (p.Ser485=) | |
| 3 | g.38604018G>C | CA352147346 | SCN5A | c.1584C>G (p.Ser528Arg) c.1455C>G (p.Ser485Arg) | ClinVar |
| 3 | g.38604018G= | CA1358585015 | SCN5A | c.1584C= (p.Ser528=) c.1455C= (p.Ser485=) | |
| 3 | g.38604018G>T | CA015016 | SCN5A | c.1584C>A (p.Ser528Arg) c.1455C>A (p.Ser485Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604018_38604019del | CA015010 | SCN5A | c.1583_1584del (p.Ser528AsnfsTer12) c.1454_1455del (p.Ser485AsnfsTer12) | ClinVar dbSNP |
| 3 | g.38604019C>A | CA16611287 | SCN5A | c.1583G>T (p.Ser528Ile) c.1454G>T (p.Ser485Ile) | ClinVar dbSNP |
| 3 | g.38604019C= | CA1358585016 | SCN5A | c.1583G= (p.Ser528=) c.1454G= (p.Ser485=) | |
| 3 | g.38604019C>G | CA352147358 | SCN5A | c.1583G>C (p.Ser528Thr) c.1454G>C (p.Ser485Thr) | |
| 3 | g.38604019C>T | CA352147361 | SCN5A | c.1583G>A (p.Ser528Asn) c.1454G>A (p.Ser485Asn) | |
| 3 | g.38604020T>A | CA352147376 | SCN5A | c.1582A>T (p.Ser528Cys) c.1453A>T (p.Ser485Cys) | |
| 3 | g.38604020T>C | CA352147372 | SCN5A | c.1582A>G (p.Ser528Gly) c.1453A>G (p.Ser485Gly) | dbSNP |
| 3 | g.38604020T>G | CA352147368 | SCN5A | c.1582A>C (p.Ser528Arg) c.1453A>C (p.Ser485Arg) | |
| 3 | g.38604021C>A | CA433333260 | SCN5A | c.1581G>T (p.Gly527=) c.1452G>T (p.Gly484=) | gnomAD v4 |
| 3 | g.38604021C= | CA1358585017 | SCN5A | c.1581G= (p.Gly527=) c.1452G= (p.Gly484=) | |
| 3 | g.38604021C>G | CA433333264 | SCN5A | c.1581G>C (p.Gly527=) c.1452G>C (p.Gly484=) | |
| 3 | g.38604021C>T | CA433333266 | SCN5A | c.1581G>A (p.Gly527=) c.1452G>A (p.Gly484=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604022C>A | CA352147379 | SCN5A | c.1580G>T (p.Gly527Val) c.1451G>T (p.Gly484Val) | |
| 3 | g.38604022C>G | CA352147377 | SCN5A | c.1580G>C (p.Gly527Ala) c.1451G>C (p.Gly484Ala) | |
| 3 | g.38604022C>T | CA352147381 | SCN5A | c.1580G>A (p.Gly527Glu) c.1451G>A (p.Gly484Glu) | ClinVar dbSNP |
| 3 | g.38604023C>A | CA352147383 | SCN5A | c.1579G>T (p.Gly527Trp) c.1450G>T (p.Gly484Trp) | gnomAD v4 |
| 3 | g.38604023C= | CA1358585018 | SCN5A | c.1579G= (p.Gly527=) c.1450G= (p.Gly484=) | |
| 3 | g.38604023C>G | CA352147385 | SCN5A | c.1579G>C (p.Gly527Arg) c.1450G>C (p.Gly484Arg) | |
| 3 | g.38604023C>T | CA058255 | SCN5A | c.1579G>A (p.Gly527Arg) c.1450G>A (p.Gly484Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604024G>A | CA433333273 | SCN5A | c.1578C>T (p.Arg526=) c.1449C>T (p.Arg483=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604024G>C | CA433333275 | SCN5A | c.1578C>G (p.Arg526=) c.1449C>G (p.Arg483=) | |
| 3 | g.38604024G= | CA1358585019 | SCN5A | c.1578C= (p.Arg526=) c.1449C= (p.Arg483=) | |
| 3 | g.38604024G>T | CA72939306 | SCN5A | c.1578C>A (p.Arg526=) c.1449C>A (p.Arg483=) | dbSNP gnomAD v4 |
| 3 | g.38604025C>A | CA352147390 | SCN5A | c.1577G>T (p.Arg526Leu) c.1448G>T (p.Arg483Leu) | |
| 3 | g.38604025C= | CA1358585020 | SCN5A | c.1577G= (p.Arg526=) c.1448G= (p.Arg483=) | |
| 3 | g.38604025C>G | CA352147393 | SCN5A | c.1577G>C (p.Arg526Pro) c.1448G>C (p.Arg483Pro) | |
| 3 | g.38604025C>T | CA015002 | SCN5A | c.1577G>A (p.Arg526His) c.1448G>A (p.Arg483His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604026G>A | CA058232 | SCN5A | c.1576C>T (p.Arg526Cys) c.1447C>T (p.Arg483Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604026G>C | CA352147397 | SCN5A | c.1576C>G (p.Arg526Gly) c.1447C>G (p.Arg483Gly) | |
| 3 | g.38604026G= | CA1358585021 | SCN5A | c.1576C= (p.Arg526=) c.1447C= (p.Arg483=) | |
| 3 | g.38604026G>T | CA352147398 | SCN5A | c.1576C>A (p.Arg526Ser) c.1447C>A (p.Arg483Ser) | |
| 3 | g.38604027G>A | CA058225 | SCN5A | c.1575C>T (p.Ser525=) c.1446C>T (p.Ser482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604027G>C | CA352147399 | SCN5A | c.1575C>G (p.Ser525Arg) c.1446C>G (p.Ser482Arg) | COSMIC COSMIC COSMIC |
| 3 | g.38604027G= | CA1358585022 | SCN5A | c.1575C= (p.Ser525=) c.1446C= (p.Ser482=) | |
| 3 | g.38604027G>T | CA352147402 | SCN5A | c.1575C>A (p.Ser525Arg) c.1446C>A (p.Ser482Arg) | ClinVar gnomAD v4 |
| 3 | g.38604028C>A | CA352147408 | SCN5A | c.1574G>T (p.Ser525Ile) c.1445G>T (p.Ser482Ile) | |
| 3 | g.38604028C>G | CA352147406 | SCN5A | c.1574G>C (p.Ser525Thr) c.1445G>C (p.Ser482Thr) | |
| 3 | g.38604028C>T | CA352147405 | SCN5A | c.1574G>A (p.Ser525Asn) c.1445G>A (p.Ser482Asn) | ClinVar |
| 3 | g.38604029T>A | CA352147409 | SCN5A | c.1573A>T (p.Ser525Cys) c.1444A>T (p.Ser482Cys) | |
| 3 | g.38604029T>C | CA352147411 | SCN5A | c.1573A>G (p.Ser525Gly) c.1444A>G (p.Ser482Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604029T>G | CA352147413 | SCN5A | c.1573A>C (p.Ser525Arg) c.1444A>C (p.Ser482Arg) | |
| 3 | g.38604029T= | CA1358585023 | SCN5A | c.1573A= (p.Ser525=) c.1444A= (p.Ser482=) | |
| 3 | g.38604030G>A | CA433333295 | SCN5A | c.1572C>T (p.Ser524=) c.1443C>T (p.Ser481=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38604030G>C | CA433333294 | SCN5A | c.1572C>G (p.Ser524=) c.1443C>G (p.Ser481=) | |
| 3 | g.38604030G= | CA1358585024 | SCN5A | c.1572C= (p.Ser524=) c.1443C= (p.Ser481=) | |
| 3 | g.38604030G>T | CA433333296 | SCN5A | c.1572C>A (p.Ser524=) c.1443C>A (p.Ser481=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38604031G>A | CA352147415 | SCN5A | c.1571C>T (p.Ser524Phe) c.1442C>T (p.Ser481Phe) | |
| 3 | g.38604031G>C | CA352147417 | SCN5A | c.1571C>G (p.Ser524Cys) c.1442C>G (p.Ser481Cys) | |
| 3 | g.38604031G= | CA1358585025 | SCN5A | c.1571C= (p.Ser524=) c.1442C= (p.Ser481=) | |
| 3 | g.38604031G>T | CA014995 | SCN5A | c.1571C>A (p.Ser524Tyr) c.1442C>A (p.Ser481Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604031_38604032insCCTTGTTGATTAGGCACCCACAGTGTGCCCAACCCTGTGCTTTGTTTTCAGACTAGAACTGGGCAGA | CA2319562 | SCN5A | c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG (p.Ser524PhefsTer7) c.1441_1442insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG (p.Ser481PhefsTer7) | ExAC |
| 3 | g.38604032A>C | CA352147419 | SCN5A | c.1570T>G (p.Ser524Ala) c.1441T>G (p.Ser481Ala) | |
| 3 | g.38604032A>G | CA352147420 | SCN5A | c.1570T>C (p.Ser524Pro) c.1441T>C (p.Ser481Pro) | |
| 3 | g.38604032A>T | CA352147422 | SCN5A | c.1570T>A (p.Ser524Thr) c.1441T>A (p.Ser481Thr) | |
| 3 | g.38604032_38604033insC | CA2586971914 | SCN5A | c.1569_1570insG (p.Ser524ValfsTer17) c.1440_1441insG (p.Ser481ValfsTer17) | |
| 3 | g.38604033A= | CA1358585026 | SCN5A | c.1569T= (p.Arg523=) c.1440T= (p.Arg480=) | |
| 3 | g.38604033A>C | CA433333306 | SCN5A | c.1569T>G (p.Arg523=) c.1440T>G (p.Arg480=) | |
| 3 | g.38604033A>G | CA433333308 | SCN5A | c.1569T>C (p.Arg523=) c.1440T>C (p.Arg480=) | ClinVar dbSNP |
| 3 | g.38604033A>T | CA014986 | SCN5A | c.1569T>A (p.Arg523=) c.1440T>A (p.Arg480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604034C>A | CA352147426 | SCN5A | c.1568G>T (p.Arg523Leu) c.1439G>T (p.Arg480Leu) | ClinVar |
| 3 | g.38604034C= | CA1358585027 | SCN5A | c.1568G= (p.Arg523=) c.1439G= (p.Arg480=) | |
| 3 | g.38604034C>G | CA352147428 | SCN5A | c.1568G>C (p.Arg523Pro) c.1439G>C (p.Arg480Pro) | |
| 3 | g.38604034C>T | CA058193 | SCN5A | c.1568G>A (p.Arg523His) c.1439G>A (p.Arg480His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604035G>A | CA014976 | SCN5A | c.1567C>T (p.Arg523Cys) c.1438C>T (p.Arg480Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604035G>C | CA352147433 | SCN5A | c.1567C>G (p.Arg523Gly) c.1438C>G (p.Arg480Gly) | |
| 3 | g.38604035G= | CA1358585028 | SCN5A | c.1567C= (p.Arg523=) c.1438C= (p.Arg480=) | |
| 3 | g.38604035G>T | CA352147430 | SCN5A | c.1567C>A (p.Arg523Ser) c.1438C>A (p.Arg480Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604036T>A | CA433333312 | SCN5A | c.1566A>T (p.Pro522=) c.1437A>T (p.Pro479=) | |
| 3 | g.38604036T>C | CA433333314 | SCN5A | c.1566A>G (p.Pro522=) c.1437A>G (p.Pro479=) | |
| 3 | g.38604036T>G | CA433333317 | SCN5A | c.1566A>C (p.Pro522=) c.1437A>C (p.Pro479=) | |
| 3 | g.38604037G>A | CA352147434 | SCN5A | c.1565C>T (p.Pro522Leu) c.1436C>T (p.Pro479Leu) | gnomAD v4 |
| 3 | g.38604037G>C | CA058186 | SCN5A | c.1565C>G (p.Pro522Arg) c.1436C>G (p.Pro479Arg) | dbSNP ExAC |
| 3 | g.38604037G= | CA1358585029 | SCN5A | c.1565C= (p.Pro522=) c.1436C= (p.Pro479=) | |
| 3 | g.38604037G>T | CA352147436 | SCN5A | c.1565C>A (p.Pro522Gln) c.1436C>A (p.Pro479Gln) | |
| 3 | g.38604038G>A | CA058181 | SCN5A | c.1564C>T (p.Pro522Ser) c.1435C>T (p.Pro479Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604038G>C | CA352147437 | SCN5A | c.1564C>G (p.Pro522Ala) c.1435C>G (p.Pro479Ala) | |
| 3 | g.38604038G= | CA1358585030 | SCN5A | c.1564C= (p.Pro522=) c.1435C= (p.Pro479=) | |
| 3 | g.38604038G>T | CA058174 | SCN5A | c.1564C>A (p.Pro522Thr) c.1435C>A (p.Pro479Thr) | dbSNP ExAC |
| 3 | g.38604038_38604039delinsGC | CA1358585031 | SCN5A | c.1563_1564delinsGC (p.Lys521=) c.1434_1435delinsGC (p.Lys478=) | |
| 3 | g.38604038_38604039delinsTT | CA1139655772 | SCN5A | c.1563_1564delinsAA (p.Pro522Thr) c.1434_1435delinsAA (p.Pro479Thr) | ClinVar dbSNP |
| 3 | g.38604039C>A | CA352147441 | SCN5A | c.1563G>T (p.Lys521Asn) c.1434G>T (p.Lys478Asn) | gnomAD v4 |
| 3 | g.38604039C>G | CA352147445 | SCN5A | c.1563G>C (p.Lys521Asn) c.1434G>C (p.Lys478Asn) | |
| 3 | g.38604039C>T | CA433333325 | SCN5A | c.1563G>A (p.Lys521=) c.1434G>A (p.Lys478=) | |
| 3 | g.38604040T>A | CA352147452 | SCN5A | c.1562A>T (p.Lys521Met) c.1433A>T (p.Lys478Met) | |
| 3 | g.38604040T>C | CA352147450 | SCN5A | c.1562A>G (p.Lys521Arg) c.1433A>G (p.Lys478Arg) | |
| 3 | g.38604040T>G | CA352147448 | SCN5A | c.1562A>C (p.Lys521Thr) c.1433A>C (p.Lys478Thr) | |
| 3 | g.38604041del | CA2586971915 | SCN5A | c.1562del (p.Lys521SerfsTer?) c.1433del (p.Lys478SerfsTer?) | |
| 3 | g.38604041T>A | CA352147454 | SCN5A | c.1561A>T (p.Lys521Ter) c.1432A>T (p.Lys478Ter) | dbSNP |
| 3 | g.38604041T>C | CA058165 | SCN5A | c.1561A>G (p.Lys521Glu) c.1432A>G (p.Lys478Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604041T>G | CA352147456 | SCN5A | c.1561A>C (p.Lys521Gln) c.1432A>C (p.Lys478Gln) | |
| 3 | g.38604041T= | CA1358585032 | SCN5A | c.1561A= (p.Lys521=) c.1432A= (p.Lys478=) | |
| 3 | g.38604042C>A | CA352147458 | SCN5A | c.1560G>T (p.Met520Ile) c.1431G>T (p.Met477Ile) | |
| 3 | g.38604042C>G | CA352147459 | SCN5A | c.1560G>C (p.Met520Ile) c.1431G>C (p.Met477Ile) | |
| 3 | g.38604042C>T | CA352147460 | SCN5A | c.1560G>A (p.Met520Ile) c.1431G>A (p.Met477Ile) | |
| 3 | g.38604043A= | CA1358585033 | SCN5A | c.1559T= (p.Met520=) c.1430T= (p.Met477=) | |
| 3 | g.38604043A>C | CA72939343 | SCN5A | c.1559T>G (p.Met520Arg) c.1430T>G (p.Met477Arg) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38604043A>G | CA352147462 | SCN5A | c.1559T>C (p.Met520Thr) c.1430T>C (p.Met477Thr) | ClinVar dbSNP |
| 3 | g.38604043A>T | CA352147461 | SCN5A | c.1559T>A (p.Met520Lys) c.1430T>A (p.Met477Lys) | |
| 3 | g.38604044T>A | CA352147463 | SCN5A | c.1558A>T (p.Met520Leu) c.1429A>T (p.Met477Leu) | |
| 3 | g.38604044T>C | CA058151 | SCN5A | c.1558A>G (p.Met520Val) c.1429A>G (p.Met477Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604044T>G | CA352147464 | SCN5A | c.1558A>C (p.Met520Leu) c.1429A>C (p.Met477Leu) | |
| 3 | g.38604044T= | CA1358585034 | SCN5A | c.1558A= (p.Met520=) c.1429A= (p.Met477=) | |
| 3 | g.38604045A= | CA1358585035 | SCN5A | c.1557T= (p.Ser519=) c.1428T= (p.Ser476=) | |
| 3 | g.38604045A>C | CA433333332 | SCN5A | c.1557T>G (p.Ser519=) c.1428T>G (p.Ser476=) | |
| 3 | g.38604045A>G | CA058141 | SCN5A | c.1557T>C (p.Ser519=) c.1428T>C (p.Ser476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604045A>T | CA433333333 | SCN5A | c.1557T>A (p.Ser519=) c.1428T>A (p.Ser476=) | |
| 3 | g.38604046G>A | CA352147466 | SCN5A | c.1556C>T (p.Ser519Phe) c.1427C>T (p.Ser476Phe) | gnomAD v4 |
| 3 | g.38604046G>C | CA352147467 | SCN5A | c.1556C>G (p.Ser519Cys) c.1427C>G (p.Ser476Cys) | gnomAD v4 |
| 3 | g.38604046G>T | CA352147469 | SCN5A | c.1556C>A (p.Ser519Tyr) c.1427C>A (p.Ser476Tyr) | |
| 3 | g.38604047A>C | CA352147471 | SCN5A | c.1555T>G (p.Ser519Ala) c.1426T>G (p.Ser476Ala) | |
| 3 | g.38604047A>G | CA352147472 | SCN5A | c.1555T>C (p.Ser519Pro) c.1426T>C (p.Ser476Pro) | |
| 3 | g.38604047A>T | CA352147473 | SCN5A | c.1555T>A (p.Ser519Thr) c.1426T>A (p.Ser476Thr) | |
| 3 | g.38604048del | CA2573136271 | SCN5A | c.1555del (p.Ser519LeufsTer2) c.1426del (p.Ser476LeufsTer2) | ClinVar dbSNP |
| 3 | g.38604048A>C | CA433333340 | SCN5A | c.1554T>G (p.Thr518=) c.1425T>G (p.Thr475=) | |
| 3 | g.38604048A>G | CA433333342 | SCN5A | c.1554T>C (p.Thr518=) c.1425T>C (p.Thr475=) | gnomAD v4 |
| 3 | g.38604048A>T | CA433333343 | SCN5A | c.1554T>A (p.Thr518=) c.1425T>A (p.Thr475=) | |
| 3 | g.38604049G>A | CA352147479 | SCN5A | c.1553C>T (p.Thr518Ile) c.1424C>T (p.Thr475Ile) | dbSNP gnomAD v2 |
| 3 | g.38604049G>C | CA352147477 | SCN5A | c.1553C>G (p.Thr518Ser) c.1424C>G (p.Thr475Ser) | |
| 3 | g.38604049G= | CA1358585036 | SCN5A | c.1553C= (p.Thr518=) c.1424C= (p.Thr475=) | |
| 3 | g.38604049G>T | CA352147476 | SCN5A | c.1553C>A (p.Thr518Asn) c.1424C>A (p.Thr475Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604050T>A | CA352147481 | SCN5A | c.1552A>T (p.Thr518Ser) c.1423A>T (p.Thr475Ser) | |
| 3 | g.38604050T>C | CA352147483 | SCN5A | c.1552A>G (p.Thr518Ala) c.1423A>G (p.Thr475Ala) | |
| 3 | g.38604050T>G | CA352147485 | SCN5A | c.1552A>C (p.Thr518Pro) c.1423A>C (p.Thr475Pro) | gnomAD v4 |
| 3 | g.38604051C>A | CA352147486 | SCN5A | c.1551G>T (p.Arg517Ser) c.1422G>T (p.Arg474Ser) | |
| 3 | g.38604051C= | CA1358585037 | SCN5A | c.1551G= (p.Arg517=) c.1422G= (p.Arg474=) | |
| 3 | g.38604051C>G | CA058133 | SCN5A | c.1551G>C (p.Arg517Ser) c.1422G>C (p.Arg474Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604051C>T | CA433333349 | SCN5A | c.1551G>A (p.Arg517=) c.1422G>A (p.Arg474=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38604052C>A | CA352147489 | SCN5A | c.1550G>T (p.Arg517Met) c.1421G>T (p.Arg474Met) | |
| 3 | g.38604052C= | CA1358585038 | SCN5A | c.1550G= (p.Arg517=) c.1421G= (p.Arg474=) | |
| 3 | g.38604052C>G | CA352147491 | SCN5A | c.1550G>C (p.Arg517Thr) c.1421G>C (p.Arg474Thr) | |
| 3 | g.38604052C>T | CA352147493 | SCN5A | c.1550G>A (p.Arg517Lys) c.1421G>A (p.Arg474Lys) | ClinVar dbSNP |
| 3 | g.38604053T>A | CA352147495 | SCN5A | c.1549A>T (p.Arg517Trp) c.1420A>T (p.Arg474Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38604053T>C | CA352147497 | SCN5A | c.1549A>G (p.Arg517Gly) c.1420A>G (p.Arg474Gly) | |
| 3 | g.38604053T>G | CA433333355 | SCN5A | c.1549A>C (p.Arg517=) c.1420A>C (p.Arg474=) | |
| 3 | g.38604053T= | CA1358585039 | SCN5A | c.1549A= (p.Arg517=) c.1420A= (p.Arg474=) | |
| 3 | g.38604054G>A | CA433333360 | SCN5A | c.1548C>T (p.Ser516=) c.1419C>T (p.Ser473=) | gnomAD v4 |
| 3 | g.38604054G>C | CA352147499 | SCN5A | c.1548C>G (p.Ser516Arg) c.1419C>G (p.Ser473Arg) | |
| 3 | g.38604054G>T | CA352147500 | SCN5A | c.1548C>A (p.Ser516Arg) c.1419C>A (p.Ser473Arg) | |
| 3 | g.38604055C>A | CA352147503 | SCN5A | c.1547G>T (p.Ser516Ile) c.1418G>T (p.Ser473Ile) | gnomAD v4 |
| 3 | g.38604055C= | CA1358585040 | SCN5A | c.1547G= (p.Ser516=) c.1418G= (p.Ser473=) | |
| 3 | g.38604055C>G | CA352147505 | SCN5A | c.1547G>C (p.Ser516Thr) c.1418G>C (p.Ser473Thr) | |
| 3 | g.38604055C>T | CA352147502 | SCN5A | c.1547G>A (p.Ser516Asn) c.1418G>A (p.Ser473Asn) | |
| 3 | g.38604056T>A | CA352147507 | SCN5A | c.1546A>T (p.Ser516Cys) c.1417A>T (p.Ser473Cys) | |
| 3 | g.38604056T>C | CA352147509 | SCN5A | c.1546A>G (p.Ser516Gly) c.1417A>G (p.Ser473Gly) | |
| 3 | g.38604056T>G | CA352147511 | SCN5A | c.1546A>C (p.Ser516Arg) c.1417A>C (p.Ser473Arg) | |
| 3 | g.38604057_38604083dup | CA542615631 | SCN5A | c.1520_1546dup (p.Leu515_Ser516insAsnHisLeuSerLeuThrArgGlyLeu) c.1391_1417dup (p.Leu472_Ser473insAsnHisLeuSerLeuThrArgGlyLeu) | dbSNP gnomAD v2 |
| 3 | g.38604057G>A | CA058127 | SCN5A | c.1545C>T (p.Leu515=) c.1416C>T (p.Leu472=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604057G>C | CA433333366 | SCN5A | c.1545C>G (p.Leu515=) c.1416C>G (p.Leu472=) | |
| 3 | g.38604057G= | CA1358585041 | SCN5A | c.1545C= (p.Leu515=) c.1416C= (p.Leu472=) | |
| 3 | g.38604057G>T | CA433333365 | SCN5A | c.1545C>A (p.Leu515=) c.1416C>A (p.Leu472=) | |
| 3 | g.38604058A>C | CA352147517 | SCN5A | c.1544T>G (p.Leu515Arg) c.1415T>G (p.Leu472Arg) | |
| 3 | g.38604058A>G | CA352147516 | SCN5A | c.1544T>C (p.Leu515Pro) c.1415T>C (p.Leu472Pro) | |
| 3 | g.38604058A>T | CA352147514 | SCN5A | c.1544T>A (p.Leu515His) c.1415T>A (p.Leu472His) | dbSNP |
| 3 | g.38604059G>A | CA352147518 | SCN5A | c.1543C>T (p.Leu515Phe) c.1414C>T (p.Leu472Phe) | |
| 3 | g.38604059G>C | CA352147520 | SCN5A | c.1543C>G (p.Leu515Val) c.1414C>G (p.Leu472Val) | |
| 3 | g.38604059G>T | CA352147523 | SCN5A | c.1543C>A (p.Leu515Ile) c.1414C>A (p.Leu472Ile) | gnomAD v4 |
| 3 | g.38604060G>A | CA433333369 | SCN5A | c.1542C>T (p.Gly514=) c.1413C>T (p.Gly471=) | |
| 3 | g.38604060G>C | CA433333370 | SCN5A | c.1542C>G (p.Gly514=) c.1413C>G (p.Gly471=) | |
| 3 | g.38604060G>T | CA433333371 | SCN5A | c.1542C>A (p.Gly514=) c.1413C>A (p.Gly471=) | |
| 3 | g.38604061C>A | CA352147525 | SCN5A | c.1541G>T (p.Gly514Val) c.1412G>T (p.Gly471Val) | gnomAD v4 |
| 3 | g.38604061C>G | CA352147526 | SCN5A | c.1541G>C (p.Gly514Ala) c.1412G>C (p.Gly471Ala) | |
| 3 | g.38604061C>T | CA352147528 | SCN5A | c.1541G>A (p.Gly514Asp) c.1412G>A (p.Gly471Asp) | gnomAD v4 |
| 3 | g.38604062C>A | CA014960 | SCN5A | c.1540G>T (p.Gly514Cys) c.1411G>T (p.Gly471Cys) | ClinVar dbSNP |
| 3 | g.38604062C= | CA1358585042 | SCN5A | c.1540G= (p.Gly514=) c.1411G= (p.Gly471=) | |
| 3 | g.38604062C>G | CA352147533 | SCN5A | c.1540G>C (p.Gly514Arg) c.1411G>C (p.Gly471Arg) | |
| 3 | g.38604062C>T | CA352147531 | SCN5A | c.1540G>A (p.Gly514Ser) c.1411G>A (p.Gly471Ser) | gnomAD v4 |
| 3 | g.38604063A= | CA1358585043 | SCN5A | c.1539T= (p.Arg513=) c.1410T= (p.Arg470=) | |
| 3 | g.38604063A>C | CA433333374 | SCN5A | c.1539T>G (p.Arg513=) c.1410T>G (p.Arg470=) | dbSNP |
| 3 | g.38604063A>G | CA72939354 | SCN5A | c.1539T>C (p.Arg513=) c.1410T>C (p.Arg470=) | ClinVar dbSNP |
| 3 | g.38604063A>T | CA433333377 | SCN5A | c.1539T>A (p.Arg513=) c.1410T>A (p.Arg470=) | |
| 3 | g.38604064C>A | CA352147535 | SCN5A | c.1538G>T (p.Arg513Leu) c.1409G>T (p.Arg470Leu) | gnomAD v4 |
| 3 | g.38604064C= | CA1358585044 | SCN5A | c.1538G= (p.Arg513=) c.1409G= (p.Arg470=) | |
| 3 | g.38604064C>G | CA352147537 | SCN5A | c.1538G>C (p.Arg513Pro) c.1409G>C (p.Arg470Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604064C>T | CA014950 | SCN5A | c.1538G>A (p.Arg513His) c.1409G>A (p.Arg470His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604065G>A | CA014941 | SCN5A | c.1537C>T (p.Arg513Cys) c.1408C>T (p.Arg470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604065G>C | CA352147539 | SCN5A | c.1537C>G (p.Arg513Gly) c.1408C>G (p.Arg470Gly) | |
| 3 | g.38604065G= | CA1358585045 | SCN5A | c.1537C= (p.Arg513=) c.1408C= (p.Arg470=) | |
| 3 | g.38604065G>T | CA352147538 | SCN5A | c.1537C>A (p.Arg513Ser) c.1408C>A (p.Arg470Ser) | gnomAD v4 |
| 3 | g.38604067del | CA2586971916 | SCN5A | c.1537del (p.Arg513ValfsTer8) c.1408del (p.Arg470ValfsTer8) | gnomAD v4 |
| 3 | g.38604066G>A | CA433333382 | SCN5A | c.1536C>T (p.Thr512=) c.1407C>T (p.Thr469=) | |
| 3 | g.38604066G>C | CA433333384 | SCN5A | c.1536C>G (p.Thr512=) c.1407C>G (p.Thr469=) | |
| 3 | g.38604066G>T | CA433333386 | SCN5A | c.1536C>A (p.Thr512=) c.1407C>A (p.Thr469=) | gnomAD v4 |
| 3 | g.38604067G>A | CA014930 | SCN5A | c.1535C>T (p.Thr512Ile) c.1406C>T (p.Thr469Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604067G>C | CA352147543 | SCN5A | c.1535C>G (p.Thr512Ser) c.1406C>G (p.Thr469Ser) | |
| 3 | g.38604067G= | CA1358585046 | SCN5A | c.1535C= (p.Thr512=) c.1406C= (p.Thr469=) | |
| 3 | g.38604067G>T | CA352147544 | SCN5A | c.1535C>A (p.Thr512Asn) c.1406C>A (p.Thr469Asn) | |
| 3 | g.38604068T>A | CA352147547 | SCN5A | c.1534A>T (p.Thr512Ser) c.1405A>T (p.Thr469Ser) | gnomAD v4 |
| 3 | g.38604068T>C | CA352147548 | SCN5A | c.1534A>G (p.Thr512Ala) c.1405A>G (p.Thr469Ala) | |
| 3 | g.38604068T>G | CA352147549 | SCN5A | c.1534A>C (p.Thr512Pro) c.1405A>C (p.Thr469Pro) | dbSNP |
| 3 | g.38604068T= | CA1358585047 | SCN5A | c.1534A= (p.Thr512=) c.1405A= (p.Thr469=) | |
| 3 | g.38604069G>A | CA433333392 | SCN5A | c.1533C>T (p.Leu511=) c.1404C>T (p.Leu468=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604069G>C | CA433333396 | SCN5A | c.1533C>G (p.Leu511=) c.1404C>G (p.Leu468=) | |
| 3 | g.38604069G= | CA1358585048 | SCN5A | c.1533C= (p.Leu511=) c.1404C= (p.Leu468=) | |
| 3 | g.38604069G>T | CA433333398 | SCN5A | c.1533C>A (p.Leu511=) c.1404C>A (p.Leu468=) | gnomAD v4 |
| 3 | g.38604070A>C | CA352147552 | SCN5A | c.1532T>G (p.Leu511Arg) c.1403T>G (p.Leu468Arg) | |
| 3 | g.38604070A>G | CA352147553 | SCN5A | c.1532T>C (p.Leu511Pro) c.1403T>C (p.Leu468Pro) | gnomAD v4 |
| 3 | g.38604070A>T | CA352147555 | SCN5A | c.1532T>A (p.Leu511His) c.1403T>A (p.Leu468His) | |
| 3 | g.38604071G>A | CA352147558 | SCN5A | c.1531C>T (p.Leu511Phe) c.1402C>T (p.Leu468Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38604071G>C | CA352147559 | SCN5A | c.1531C>G (p.Leu511Val) c.1402C>G (p.Leu468Val) | gnomAD v4 |
| 3 | g.38604071G= | CA1358585049 | SCN5A | c.1531C= (p.Leu511=) c.1402C= (p.Leu468=) | |
| 3 | g.38604071G>T | CA352147560 | SCN5A | c.1531C>A (p.Leu511Ile) c.1402C>A (p.Leu468Ile) | gnomAD v4 |
| 3 | g.38604072G>A | CA433333404 | SCN5A | c.1530C>T (p.Ser510=) c.1401C>T (p.Ser467=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38604072G>C | CA352147563 | SCN5A | c.1530C>G (p.Ser510Arg) c.1401C>G (p.Ser467Arg) | |
| 3 | g.38604072G= | CA1358585050 | SCN5A | c.1530C= (p.Ser510=) c.1401C= (p.Ser467=) | |
| 3 | g.38604072G>T | CA352147561 | SCN5A | c.1530C>A (p.Ser510Arg) c.1401C>A (p.Ser467Arg) | |
| 3 | g.38604073C>A | CA352147564 | SCN5A | c.1529G>T (p.Ser510Ile) c.1400G>T (p.Ser467Ile) | gnomAD v4 |
| 3 | g.38604073C= | CA1358585051 | SCN5A | c.1529G= (p.Ser510=) c.1400G= (p.Ser467=) | |
| 3 | g.38604073C>G | CA352147565 | SCN5A | c.1529G>C (p.Ser510Thr) c.1400G>C (p.Ser467Thr) | gnomAD v4 |
| 3 | g.38604073C>T | CA352147567 | SCN5A | c.1529G>A (p.Ser510Asn) c.1400G>A (p.Ser467Asn) | dbSNP gnomAD v2 |
| 3 | g.38604074T>A | CA352147569 | SCN5A | c.1528A>T (p.Ser510Cys) c.1399A>T (p.Ser467Cys) | |
| 3 | g.38604074T>C | CA352147570 | SCN5A | c.1528A>G (p.Ser510Gly) c.1399A>G (p.Ser467Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38604074T>G | CA352147572 | SCN5A | c.1528A>C (p.Ser510Arg) c.1399A>C (p.Ser467Arg) | gnomAD v4 |
| 3 | g.38604075G>A | CA433333411 | SCN5A | c.1527C>T (p.Leu509=) c.1398C>T (p.Leu466=) | |
| 3 | g.38604075G>C | CA433333412 | SCN5A | c.1527C>G (p.Leu509=) c.1398C>G (p.Leu466=) | |
| 3 | g.38604075G>T | CA433333413 | SCN5A | c.1527C>A (p.Leu509=) c.1398C>A (p.Leu466=) | |
| 3 | g.38604076A= | CA1358585052 | SCN5A | c.1526T= (p.Leu509=) c.1397T= (p.Leu466=) | |
| 3 | g.38604076A>C | CA352147575 | SCN5A | c.1526T>G (p.Leu509Arg) c.1397T>G (p.Leu466Arg) | |
| 3 | g.38604076A>G | CA352147577 | SCN5A | c.1526T>C (p.Leu509Pro) c.1397T>C (p.Leu466Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604076A>T | CA352147579 | SCN5A | c.1526T>A (p.Leu509His) c.1397T>A (p.Leu466His) | |
| 3 | g.38604077G>A | CA352147581 | SCN5A | c.1525C>T (p.Leu509Phe) c.1396C>T (p.Leu466Phe) | |
| 3 | g.38604077G>C | CA352147582 | SCN5A | c.1525C>G (p.Leu509Val) c.1396C>G (p.Leu466Val) | |
| 3 | g.38604077G>T | CA352147585 | SCN5A | c.1525C>A (p.Leu509Ile) c.1396C>A (p.Leu466Ile) | gnomAD v4 |
| 3 | g.38604078A>C | CA352147587 | SCN5A | c.1524T>G (p.His508Gln) c.1395T>G (p.His465Gln) | |
| 3 | g.38604078A>G | CA433333422 | SCN5A | c.1524T>C (p.His508=) c.1395T>C (p.His465=) | |
| 3 | g.38604078A>T | CA352147589 | SCN5A | c.1524T>A (p.His508Gln) c.1395T>A (p.His465Gln) | |
| 3 | g.38604079T>A | CA352147590 | SCN5A | c.1523A>T (p.His508Leu) c.1394A>T (p.His465Leu) | |
| 3 | g.38604079T>C | CA352147591 | SCN5A | c.1523A>G (p.His508Arg) c.1394A>G (p.His465Arg) | |
| 3 | g.38604079T>G | CA352147592 | SCN5A | c.1523A>C (p.His508Pro) c.1394A>C (p.His465Pro) | |
| 3 | g.38604080G>A | CA352147594 | SCN5A | c.1522C>T (p.His508Tyr) c.1393C>T (p.His465Tyr) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604080G>C | CA352147596 | SCN5A | c.1522C>G (p.His508Asp) c.1393C>G (p.His465Asp) | ClinVar gnomAD v4 |
| 3 | g.38604080G= | CA1358585053 | SCN5A | c.1522C= (p.His508=) c.1393C= (p.His465=) | |
| 3 | g.38604080G>T | CA352147597 | SCN5A | c.1522C>A (p.His508Asn) c.1393C>A (p.His465Asn) | |
| 3 | g.38604081A= | CA1358585054 | SCN5A | c.1521T= (p.Asn507=) c.1392T= (p.Asn464=) | |
| 3 | g.38604081A>C | CA352147601 | SCN5A | c.1521T>G (p.Asn507Lys) c.1392T>G (p.Asn464Lys) | |
| 3 | g.38604081A>G | CA433333426 | SCN5A | c.1521T>C (p.Asn507=) c.1392T>C (p.Asn464=) | dbSNP |
| 3 | g.38604081A>T | CA352147599 | SCN5A | c.1521T>A (p.Asn507Lys) c.1392T>A (p.Asn464Lys) | gnomAD v4 |
| 3 | g.38604082T>A | CA352147603 | SCN5A | c.1520A>T (p.Asn507Ile) c.1391A>T (p.Asn464Ile) | |
| 3 | g.38604082T>C | CA352147604 | SCN5A | c.1520A>G (p.Asn507Ser) c.1391A>G (p.Asn464Ser) | gnomAD v4 |
| 3 | g.38604082T>G | CA352147606 | SCN5A | c.1520A>C (p.Asn507Thr) c.1391A>C (p.Asn464Thr) | |
| 3 | g.38604083T>A | CA352147609 | SCN5A | c.1519A>T (p.Asn507Tyr) c.1390A>T (p.Asn464Tyr) | |
| 3 | g.38604083T>C | CA352147610 | SCN5A | c.1519A>G (p.Asn507Asp) c.1390A>G (p.Asn464Asp) | |
| 3 | g.38604083T>G | CA352147612 | SCN5A | c.1519A>C (p.Asn507His) c.1390A>C (p.Asn464His) | |
| 3 | g.38604084C>A | CA352147614 | SCN5A | c.1519-1G>T (n.1519-1G>T) c.1390-1G>T (n.1390-1G>T) | gnomAD v4 |
| 3 | g.38604084C= | CA1358585055 | SCN5A | c.1519-1G= (n.1519-1G=) c.1390-1G= (n.1390-1G=) | |
| 3 | g.38604084C>G | CA352147616 | SCN5A | c.1519-1G>C (n.1519-1G>C) c.1390-1G>C (n.1390-1G>C) | |
| 3 | g.38604084C>T | CA014903 | SCN5A | c.1519-1G>A (n.1519-1G>A) c.1390-1G>A (n.1390-1G>A) | ClinVar dbSNP |
| 3 | g.38604084_38604085insATTGCTCTGGGACCATCTTCTGAGTCAGACTTGGGGAGCCTGTCCTCCCCACACTCCTCAGTTCCTGAAGACATCCGTTTTCTCCTCTTGCTTCT | CA2665114733 | SCN5A | c.1519-2_1519-1insAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAAT (n.1519-2_1519-1insAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAAT) c.1390-2_1390-1insAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAAT (n.1390-2_1390-1insAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAAT) | gnomAD v4 |
| 3 | g.38604085T>A | CA352147619 | SCN5A | c.1519-2A>T (n.1519-2A>T) c.1390-2A>T (n.1390-2A>T) | dbSNP |
| 3 | g.38604085T>C | CA352147621 | SCN5A | c.1519-2A>G (n.1519-2A>G) c.1390-2A>G (n.1390-2A>G) | |
| 3 | g.38604085T>G | CA352147623 | SCN5A | c.1519-2A>C (n.1519-2A>C) c.1390-2A>C (n.1390-2A>C) | |
| 3 | g.38604085T= | CA1358585056 | SCN5A | c.1519-2A= (n.1519-2A=) c.1390-2A= (n.1390-2A=) | |
| 3 | g.38604086A= | CA1358585057 | SCN5A | c.1519-3T= (n.1519-3T=) c.1390-3T= (n.1390-3T=) | |
| 3 | g.38604086A>G | CA1047010948 | SCN5A | c.1519-3T>C (n.1519-3T>C) c.1390-3T>C (n.1390-3T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38604087A>G | CA2665114734 | SCN5A | c.1519-4T>C (n.1519-4T>C) c.1390-4T>C (n.1390-4T>C) | gnomAD v4 |
| 3 | g.38604087A>T | CA2665114735 | SCN5A | c.1519-4T>A (n.1519-4T>A) c.1390-4T>A (n.1390-4T>A) | gnomAD v4 |
| 3 | g.38604088G>C | CA2702483233 | SCN5A | c.1519-5C>G (n.1519-5C>G) c.1390-5C>G (n.1390-5C>G) | dbSNP |
| 3 | g.38604088G>T | CA2665114736 | SCN5A | c.1519-5C>A (n.1519-5C>A) c.1390-5C>A (n.1390-5C>A) | gnomAD v4 |
| 3 | g.38604089G>A | CA058096 | SCN5A | c.1519-6C>T (n.1519-6C>T) c.1390-6C>T (n.1390-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604089G= | CA1358585058 | SCN5A | c.1519-6C= (n.1519-6C=) c.1390-6C= (n.1390-6C=) | |
| 3 | g.38604090G>A | CA2665114737 | SCN5A | c.1519-7C>T (n.1519-7C>T) c.1390-7C>T (n.1390-7C>T) | gnomAD v4 |
| 3 | g.38604090G>C | CA2577553437 | SCN5A | c.1519-7C>G (n.1519-7C>G) c.1390-7C>G (n.1390-7C>G) | ClinVar |
| 3 | g.38604090G>T | CA2665114738 | SCN5A | c.1519-7C>A (n.1519-7C>A) c.1390-7C>A (n.1390-7C>A) | gnomAD v4 |
| 3 | g.38604091C>A | CA2665114739 | SCN5A | c.1519-8G>T (n.1519-8G>T) c.1390-8G>T (n.1390-8G>T) | gnomAD v4 |
| 3 | g.38604092A>T | CA2665114740 | SCN5A | c.1519-9T>A (n.1519-9T>A) c.1390-9T>A (n.1390-9T>A) | gnomAD v4 |
| 3 | g.38604093T>C | CA2665114741 | SCN5A | c.1519-10A>G (n.1519-10A>G) c.1390-10A>G (n.1390-10A>G) | dbSNP gnomAD v4 |
| 3 | g.38604094G>A | CA058045 | SCN5A | c.1519-11C>T (n.1519-11C>T) c.1390-11C>T (n.1390-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604094G= | CA1358585059 | SCN5A | c.1519-11C= (n.1519-11C=) c.1390-11C= (n.1390-11C=) | |
| 3 | g.38604096G>A | CA542615632 | SCN5A | c.1519-13C>T (n.1519-13C>T) c.1390-13C>T (n.1390-13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604096G= | CA1358585060 | SCN5A | c.1519-13C= (n.1519-13C=) c.1390-13C= (n.1390-13C=) | |
| 3 | g.38604096G>T | CA2665114742 | SCN5A | c.1519-13C>A (n.1519-13C>A) c.1390-13C>A (n.1390-13C>A) | gnomAD v4 |
| 3 | g.38604097G>A | CA2665114744 | SCN5A | c.1519-14C>T (n.1519-14C>T) c.1390-14C>T (n.1390-14C>T) | gnomAD v4 |
| 3 | g.38604097G>T | CA2665114745 | SCN5A | c.1519-14C>A (n.1519-14C>A) c.1390-14C>A (n.1390-14C>A) | gnomAD v4 |
| 3 | g.38604100_38604101del | CA2665114743 | SCN5A | c.1519-15_1519-14del (n.1519-15_1519-14del) c.1390-15_1390-14del (n.1390-15_1390-14del) | gnomAD v4 |
| 3 | g.38604098A= | CA1358585061 | SCN5A | c.1519-15T= (n.1519-15T=) c.1390-15T= (n.1390-15T=) | |
| 3 | g.38604098A>G | CA2503873899 | SCN5A | c.1519-15T>C (n.1519-15T>C) c.1390-15T>C (n.1390-15T>C) | ClinVar gnomAD v4 |
| 3 | g.38604098A>T | CA906893939 | SCN5A | c.1519-15T>A (n.1519-15T>A) c.1390-15T>A (n.1390-15T>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38604099G>A | CA2580069755 | SCN5A | c.1519-16C>T (n.1519-16C>T) c.1390-16C>T (n.1390-16C>T) | ClinVar gnomAD v4 |
| 3 | g.38604099G>T | CA2665114746 | SCN5A | c.1519-16C>A (n.1519-16C>A) c.1390-16C>A (n.1390-16C>A) | gnomAD v4 |
| 3 | g.38604100A= | CA1358585062 | SCN5A | c.1519-17T= (n.1519-17T=) c.1390-17T= (n.1390-17T=) | |
| 3 | g.38604100A>G | CA2665114747 | SCN5A | c.1519-17T>C (n.1519-17T>C) c.1390-17T>C (n.1390-17T>C) | dbSNP gnomAD v4 |
| 3 | g.38604100A>T | CA72939370 | SCN5A | c.1519-17T>A (n.1519-17T>A) c.1390-17T>A (n.1390-17T>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38604101G>A | CA058053 | SCN5A | c.1519-18C>T (n.1519-18C>T) c.1390-18C>T (n.1390-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604101G= | CA1358585063 | SCN5A | c.1519-18C= (n.1519-18C=) c.1390-18C= (n.1390-18C=) | |
| 3 | g.38604101G>T | CA2665114748 | SCN5A | c.1519-18C>A (n.1519-18C>A) c.1390-18C>A (n.1390-18C>A) | gnomAD v4 |
| 3 | g.38604102G>T | CA2665114749 | SCN5A | c.1519-19C>A (n.1519-19C>A) c.1390-19C>A (n.1390-19C>A) | gnomAD v4 |
| 3 | g.38604103G>C | CA2665114750 | SCN5A | c.1519-20C>G (n.1519-20C>G) c.1390-20C>G (n.1390-20C>G) | dbSNP gnomAD v4 |
| 3 | g.38604103G= | CA1358585064 | SCN5A | c.1519-20C= (n.1519-20C=) c.1390-20C= (n.1390-20C=) | |
| 3 | g.38604103G>T | CA72939375 | SCN5A | c.1519-20C>A (n.1519-20C>A) c.1390-20C>A (n.1390-20C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38604104G>C | CA058060 | SCN5A | c.1519-21C>G (n.1519-21C>G) c.1390-21C>G (n.1390-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604104G= | CA1358585065 | SCN5A | c.1519-21C= (n.1519-21C=) c.1390-21C= (n.1390-21C=) | |
| 3 | g.38604104G>T | CA2665114751 | SCN5A | c.1519-21C>A (n.1519-21C>A) c.1390-21C>A (n.1390-21C>A) | gnomAD v4 |
| 3 | g.38604106C>A | CA2665114752 | SCN5A | c.1519-23G>T (n.1519-23G>T) c.1390-23G>T (n.1390-23G>T) | gnomAD v4 |
| 3 | g.38604106C>T | CA2665114753 | SCN5A | c.1519-23G>A (n.1519-23G>A) c.1390-23G>A (n.1390-23G>A) | gnomAD v4 |
| 3 | g.38604108C>A | CA2665114754 | SCN5A | c.1519-25G>T (n.1519-25G>T) c.1390-25G>T (n.1390-25G>T) | gnomAD v4 |
| 3 | g.38604108C= | CA1358585066 | SCN5A | c.1519-25G= (n.1519-25G=) c.1390-25G= (n.1390-25G=) | |
| 3 | g.38604108C>G | CA2665114755 | SCN5A | c.1519-25G>C (n.1519-25G>C) c.1390-25G>C (n.1390-25G>C) | gnomAD v4 |
| 3 | g.38604108C>T | CA058067 | SCN5A | c.1519-25G>A (n.1519-25G>A) c.1390-25G>A (n.1390-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604109G>A | CA542615633 | SCN5A | c.1519-26C>T (n.1519-26C>T) c.1390-26C>T (n.1390-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604109G= | CA1358585067 | SCN5A | c.1519-26C= (n.1519-26C=) c.1390-26C= (n.1390-26C=) | |
| 3 | g.38604109G>T | CA2665114756 | SCN5A | c.1519-26C>A (n.1519-26C>A) c.1390-26C>A (n.1390-26C>A) | gnomAD v4 |
| 3 | g.38604110A= | CA1358585068 | SCN5A | c.1519-27T= (n.1519-27T=) c.1390-27T= (n.1390-27T=) | |
| 3 | g.38604110A>G | CA542615634 | SCN5A | c.1519-27T>C (n.1519-27T>C) c.1390-27T>C (n.1390-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604111C>A | CA2665114758 | SCN5A | c.1519-28G>T (n.1519-28G>T) c.1390-28G>T (n.1390-28G>T) | gnomAD v4 |
| 3 | g.38604111C>T | CA2665114757 | SCN5A | c.1519-28G>A (n.1519-28G>A) c.1390-28G>A (n.1390-28G>A) | gnomAD v4 |