| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2571332C>T | CA039096 | KCNQ1 | c.351C>T (p.Ile117=) c.478-12103C>T (n.478-12103C>T) c.612C>T (p.Ile204=) c.231C>T (p.Ile77=) c.124-12103C>T (n.124-12103C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571332C>G | CA007766 | KCNQ1 | c.351C>G (p.Ile117Met) c.478-12103C>G (n.478-12103C>G) c.612C>G (p.Ile204Met) c.231C>G (p.Ile77Met) c.124-12103C>G (n.124-12103C>G) | ClinVar dbSNP |
| 11 | g.2571332C= | CA1948241379 | KCNQ1 | c.351C= (p.Ile117=) c.478-12103C= (n.478-12103C=) c.612C= (p.Ile204=) c.231C= (p.Ile77=) c.124-12103C= (n.124-12103C=) | dbSNP |
| 11 | g.2571332C>A | CA472037975 | KCNQ1 | c.351C>A (p.Ile117=) c.478-12103C>A (n.478-12103C>A) c.612C>A (p.Ile204=) c.231C>A (p.Ile77=) c.124-12103C>A (n.124-12103C>A) | dbSNP gnomAD v4 |