| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583541C>G | CA004932 | KCNQ1 | c.767C>G (p.Pro256Arg) c.584C>G (p.Pro195Arg) c.1028C>G (p.Pro343Arg) c.647C>G (p.Pro216Arg) c.230C>G (p.Pro77Arg) | ClinVar dbSNP |
| 11 | g.2583541C>T | CA004942 | KCNQ1 | c.767C>T (p.Pro256Leu) c.584C>T (p.Pro195Leu) c.1028C>T (p.Pro343Leu) c.647C>T (p.Pro216Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2583541C= | CA1948225165 | KCNQ1 | c.767C= (p.Pro256=) c.584C= (p.Pro195=) c.1028C= (p.Pro343=) c.647C= (p.Pro216=) c.230C= (p.Pro77=) | dbSNP |