| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570719G>T | CA007551 | KCNQ1 | c.308G>T (p.Arg103Leu) c.478-12716G>T (n.478-12716G>T) c.569G>T (p.Arg190Leu) c.188G>T (p.Arg63Leu) c.124-12716G>T (n.124-12716G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.2570719G>C | CA10582882 | KCNQ1 | c.308G>C (p.Arg103Pro) c.478-12716G>C (n.478-12716G>C) c.569G>C (p.Arg190Pro) c.188G>C (p.Arg63Pro) c.124-12716G>C (n.124-12716G>C) | ClinVar dbSNP |
| 11 | g.2570719G>A | CA007542 | KCNQ1 | c.308G>A (p.Arg103Gln) c.478-12716G>A (n.478-12716G>A) c.569G>A (p.Arg190Gln) c.188G>A (p.Arg63Gln) c.124-12716G>A (n.124-12716G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |