Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947800C>G | CA007376 | KCNH2 | n.3604G>C c.2771G>C (p.Gly924Ala) c.1751G>C (p.Gly584Ala) c.2471G>C (p.Gly824Ala) c.2693-109G>C (n.2693-109G>C) c.2621G>C (p.Gly874Ala) c.2594G>C (p.Gly865Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947800C>T | CA007369 | KCNH2 | n.3604G>A c.2771G>A (p.Gly924Glu) c.1751G>A (p.Gly584Glu) c.2471G>A (p.Gly824Glu) c.2693-109G>A (n.2693-109G>A) c.2621G>A (p.Gly874Glu) c.2594G>A (p.Gly865Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947800C>A | CA369853431 | KCNH2 | n.3604G>T c.2771G>T (p.Gly924Val) c.1751G>T (p.Gly584Val) c.2471G>T (p.Gly824Val) c.2693-109G>T (n.2693-109G>T) c.2621G>T (p.Gly874Val) c.2594G>T (p.Gly865Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |