| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947368C>A | CA037127 | KCNH2 | n.3945G>T c.3112G>T (p.Val1038Leu) c.2092G>T (p.Val698Leu) c.2812G>T (p.Val938Leu) c.2962G>T (p.Val988Leu) c.2935G>T (p.Val979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947368C>T | CA007991 | KCNH2 | n.3945G>A c.3112G>A (p.Val1038Met) c.2092G>A (p.Val698Met) c.2812G>A (p.Val938Met) c.2962G>A (p.Val988Met) c.2935G>A (p.Val979Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |