| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2527935A>C | CA006975 | KCNQ1 | n.191A>C c.133A>C (p.Ile45Leu) c.394A>C (p.Ile132Leu) c.13A>C (p.Ile5Leu) c.40A>C (p.Ile14Leu) n.263A>C c.184A>C (p.Ile62Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2527935A= | CA1948196742 | KCNQ1 | n.191A= c.133A= (p.Ile45=) c.394A= (p.Ile132=) c.13A= (p.Ile5=) c.40A= (p.Ile14=) n.263A= c.184A= (p.Ile62=) | dbSNP |
| 11 | g.2527935A>G | CA379121176 | KCNQ1 | n.191A>G c.133A>G (p.Ile45Val) c.394A>G (p.Ile132Val) c.13A>G (p.Ile5Val) c.40A>G (p.Ile14Val) n.263A>G c.184A>G (p.Ile62Val) | dbSNP gnomAD v4 |