Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2527981A>T | CA379121912 | KCNQ1 | c.179A>T (p.Gln60Leu) c.440A>T (p.Gln147Leu) c.59A>T (p.Gln20Leu) c.86A>T (p.Gln29Leu) | ClinVar dbSNP |
11 | g.2527981A>G | CA007099 | KCNQ1 | c.179A>G (p.Gln60Arg) c.440A>G (p.Gln147Arg) c.59A>G (p.Gln20Arg) c.86A>G (p.Gln29Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |