Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2583462G>A | CA008869 | KCNQ1 | c.688G>A (p.Asp230Asn) c.505G>A (p.Asp169Asn) c.949G>A (p.Asp317Asn) c.568G>A (p.Asp190Asn) c.151G>A (p.Asp51Asn) | ClinVar dbSNP |
11 | g.2583462G>T | CA008878 | KCNQ1 | c.688G>T (p.Asp230Tyr) c.505G>T (p.Asp169Tyr) c.949G>T (p.Asp317Tyr) c.568G>T (p.Asp190Tyr) c.151G>T (p.Asp51Tyr) | ClinVar dbSNP |