| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570682G>A | CA007353 | KCNQ1 | c.271G>A (p.Ala91Thr) c.478-12753G>A (n.478-12753G>A) c.532G>A (p.Ala178Thr) c.151G>A (p.Ala51Thr) c.124-12753G>A (n.124-12753G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570682G>C | CA007364 | KCNQ1 | c.271G>C (p.Ala91Pro) c.478-12753G>C (n.478-12753G>C) c.532G>C (p.Ala178Pro) c.151G>C (p.Ala51Pro) c.124-12753G>C (n.124-12753G>C) | ClinVar dbSNP |
| 11 | g.2570682G= | CA1948239685 | KCNQ1 | c.271G= (p.Ala91=) c.478-12753G= (n.478-12753G=) c.532G= (p.Ala178=) c.151G= (p.Ala51=) c.124-12753G= (n.124-12753G=) | dbSNP |
| 11 | g.2570682G>T | CA379129893 | KCNQ1 | c.271G>T (p.Ala91Ser) c.478-12753G>T (n.478-12753G>T) c.532G>T (p.Ala178Ser) c.151G>T (p.Ala51Ser) c.124-12753G>T (n.124-12753G>T) | dbSNP gnomAD v4 |