| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38603885G>A | CA352146536 | SCN5A | c.1717C>T (p.Gln573Ter) c.1588C>T (p.Gln530Ter) | |
| 3 | g.38603885G>C | CA015285 | SCN5A | c.1717C>G (p.Gln573Glu) c.1588C>G (p.Gln530Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603885G= | CA1358584942 | SCN5A | c.1717C= (p.Gln573=) c.1588C= (p.Gln530=) | |
| 3 | g.38603885G>T | CA352146539 | SCN5A | c.1717C>A (p.Gln573Lys) c.1588C>A (p.Gln530Lys) | |
| 3 | g.38603887del | CA2595895042 | SCN5A | c.1717del (p.Gln573ArgfsTer?) c.1588del (p.Gln530ArgfsTer?) | gnomAD v3 gnomAD v4 |
| 3 | g.38603886G>A | CA72939164 | SCN5A | c.1716C>T (p.Ala572=) c.1587C>T (p.Ala529=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603886G>C | CA433333098 | SCN5A | c.1716C>G (p.Ala572=) c.1587C>G (p.Ala529=) | |
| 3 | g.38603886G= | CA1358584943 | SCN5A | c.1716C= (p.Ala572=) c.1587C= (p.Ala529=) | |
| 3 | g.38603886G>T | CA433333099 | SCN5A | c.1716C>A (p.Ala572=) c.1587C>A (p.Ala529=) | |
| 3 | g.38603887G>A | CA015275 | SCN5A | c.1715C>T (p.Ala572Val) c.1586C>T (p.Ala529Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603887G>C | CA72939170 | SCN5A | c.1715C>G (p.Ala572Gly) c.1586C>G (p.Ala529Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603887G= | CA1358584945 | SCN5A | c.1715C= (p.Ala572=) c.1586C= (p.Ala529=) | |
| 3 | g.38603887G>T | CA015266 | SCN5A | c.1715C>A (p.Ala572Asp) c.1586C>A (p.Ala529Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603887_38603888delinsAA | CA015243 | SCN5A | c.1714_1715delinsTT (p.Ala572Phe) c.1585_1586delinsTT (p.Ala529Phe) | ClinVar dbSNP |
| 3 | g.38603887_38603888delinsGC | CA1358584944 | SCN5A | c.1714_1715delinsGC (p.Ala572=) c.1585_1586delinsGC (p.Ala529=) | |
| 3 | g.38603888C>A | CA015256 | SCN5A | c.1714G>T (p.Ala572Ser) c.1585G>T (p.Ala529Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603888C= | CA1358584946 | SCN5A | c.1714G= (p.Ala572=) c.1585G= (p.Ala529=) | |
| 3 | g.38603888C>G | CA352146560 | SCN5A | c.1714G>C (p.Ala572Pro) c.1585G>C (p.Ala529Pro) | gnomAD v4 |
| 3 | g.38603888C>T | CA352146556 | SCN5A | c.1714G>A (p.Ala572Thr) c.1585G>A (p.Ala529Thr) | gnomAD v4 |
| 3 | g.38603889A= | CA1358584947 | SCN5A | c.1713T= (p.Ser571=) c.1584T= (p.Ser528=) | |
| 3 | g.38603889A>C | CA352146564 | SCN5A | c.1713T>G (p.Ser571Arg) c.1584T>G (p.Ser528Arg) | |
| 3 | g.38603889A>G | CA058614 | SCN5A | c.1713T>C (p.Ser571=) c.1584T>C (p.Ser528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603889A>T | CA352146567 | SCN5A | c.1713T>A (p.Ser571Arg) c.1584T>A (p.Ser528Arg) | |
| 3 | g.38603890C>A | CA015234 | SCN5A | c.1712G>T (p.Ser571Ile) c.1583G>T (p.Ser528Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603890C= | CA1358584948 | SCN5A | c.1712G= (p.Ser571=) c.1583G= (p.Ser528=) | |
| 3 | g.38603890C>G | CA352146569 | SCN5A | c.1712G>C (p.Ser571Thr) c.1583G>C (p.Ser528Thr) | |
| 3 | g.38603890C>T | CA352146572 | SCN5A | c.1712G>A (p.Ser571Asn) c.1583G>A (p.Ser528Asn) | |
| 3 | g.38603890_38603891delinsCT | CA1358584949 | SCN5A | c.1711_1712delinsAG (p.Ser571=) c.1582_1583delinsAG (p.Ser528=) | |
| 3 | g.38603891del | CA015225 | SCN5A | c.1711del (p.Ser571ValfsTer?) c.1582del (p.Ser528ValfsTer?) | ClinVar dbSNP |
| 3 | g.38603891T>A | CA352146575 | SCN5A | c.1711A>T (p.Ser571Cys) c.1582A>T (p.Ser528Cys) | |
| 3 | g.38603891T>C | CA352146577 | SCN5A | c.1711A>G (p.Ser571Gly) c.1582A>G (p.Ser528Gly) | |
| 3 | g.38603891T>G | CA352146578 | SCN5A | c.1711A>C (p.Ser571Arg) c.1582A>C (p.Ser528Arg) | |
| 3 | g.38603892G>A | CA433333111 | SCN5A | c.1710C>T (p.Thr570=) c.1581C>T (p.Thr527=) | |
| 3 | g.38603892G>C | CA16611273 | SCN5A | c.1710C>G (p.Thr570=) c.1581C>G (p.Thr527=) | ClinVar dbSNP |
| 3 | g.38603892G= | CA1358584950 | SCN5A | c.1710C= (p.Thr570=) c.1581C= (p.Thr527=) | |
| 3 | g.38603892G>T | CA433333112 | SCN5A | c.1710C>A (p.Thr570=) c.1581C>A (p.Thr527=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603893G>A | CA352146581 | SCN5A | c.1709C>T (p.Thr570Ile) c.1580C>T (p.Thr527Ile) | |
| 3 | g.38603893G>C | CA352146582 | SCN5A | c.1709C>G (p.Thr570Ser) c.1580C>G (p.Thr527Ser) | |
| 3 | g.38603893G= | CA1358584951 | SCN5A | c.1709C= (p.Thr570=) c.1580C= (p.Thr527=) | |
| 3 | g.38603893G>T | CA058593 | SCN5A | c.1709C>A (p.Thr570Asn) c.1580C>A (p.Thr527Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603894T>A | CA352146587 | SCN5A | c.1708A>T (p.Thr570Ser) c.1579A>T (p.Thr527Ser) | |
| 3 | g.38603894T>C | CA352146593 | SCN5A | c.1708A>G (p.Thr570Ala) c.1579A>G (p.Thr527Ala) | |
| 3 | g.38603894T>G | CA352146590 | SCN5A | c.1708A>C (p.Thr570Pro) c.1579A>C (p.Thr527Pro) | |
| 3 | g.38603895C>A | CA058580 | SCN5A | c.1707G>T (p.Arg569=) c.1578G>T (p.Arg526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603895C= | CA1358584952 | SCN5A | c.1707G= (p.Arg569=) c.1578G= (p.Arg526=) | |
| 3 | g.38603895C>G | CA433333115 | SCN5A | c.1707G>C (p.Arg569=) c.1578G>C (p.Arg526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38603895C>T | CA433333117 | SCN5A | c.1707G>A (p.Arg569=) c.1578G>A (p.Arg526=) | gnomAD v4 |
| 3 | g.38603896C>A | CA352146597 | SCN5A | c.1706G>T (p.Arg569Leu) c.1577G>T (p.Arg526Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603896C= | CA1358584953 | SCN5A | c.1706G= (p.Arg569=) c.1577G= (p.Arg526=) | |
| 3 | g.38603896C>G | CA352146600 | SCN5A | c.1706G>C (p.Arg569Pro) c.1577G>C (p.Arg526Pro) |