| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588804C>T | CA005629 | KCNQ1 | c.986C>T (p.Pro329Leu) c.803C>T (p.Pro268Leu) c.1343C>T (p.Pro448Leu) c.962C>T (p.Pro321Leu) c.449C>T (p.Pro150Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2588804C>A | CA028774 | KCNQ1 | c.986C>A (p.Pro329Gln) c.803C>A (p.Pro268Gln) c.1343C>A (p.Pro448Gln) c.962C>A (p.Pro321Gln) c.449C>A (p.Pro150Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2588804C>G | CA005620 | KCNQ1 | c.986C>G (p.Pro329Arg) c.803C>G (p.Pro268Arg) c.1343C>G (p.Pro448Arg) c.962C>G (p.Pro321Arg) c.449C>G (p.Pro150Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |