| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150946929G>A | CA008157 | KCNH2 | n.4111C>T c.3278C>T (p.Pro1093Leu) c.2258C>T (p.Pro753Leu) c.2978C>T (p.Pro993Leu) c.3128C>T (p.Pro1043Leu) c.3101C>T (p.Pro1034Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946929G>C | CA038207 | KCNH2 | n.4111C>G c.3278C>G (p.Pro1093Arg) c.2258C>G (p.Pro753Arg) c.2978C>G (p.Pro993Arg) c.3128C>G (p.Pro1043Arg) c.3101C>G (p.Pro1034Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |