| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948866T>A | CA007008 | KCNH2 | n.3415A>T c.2582A>T (p.Asn861Ile) c.1562A>T (p.Asn521Ile) c.2282A>T (p.Asn761Ile) c.2432A>T (p.Asn811Ile) c.2405A>T (p.Asn802Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948866T>G | CA006990 | KCNH2 | n.3415A>C c.2582A>C (p.Asn861Thr) c.1562A>C (p.Asn521Thr) c.2282A>C (p.Asn761Thr) c.2432A>C (p.Asn811Thr) c.2405A>C (p.Asn802Thr) | ClinVar dbSNP |
| 7 | g.150948866T>C | CA006998 | KCNH2 | n.3415A>G c.2582A>G (p.Asn861Ser) c.1562A>G (p.Asn521Ser) c.2282A>G (p.Asn761Ser) c.2432A>G (p.Asn811Ser) c.2405A>G (p.Asn802Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150948866T= | CA1752431832 | KCNH2 | n.3415A= c.2582A= (p.Asn861=) c.1562A= (p.Asn521=) c.2282A= (p.Asn761=) c.2432A= (p.Asn811=) c.2405A= (p.Asn802=) | dbSNP |