| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48251770G>C | CA392313732 | SLC12A1 | c.1942G>C (p.Asp648His) c.2080G>C (p.Asp694His) n.6065G>C c.1381G>C (p.Asp461His) n.6081G>C c.2038G>C (p.Asp680His) n.2254G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48251770G>A | CA119888 | SLC12A1 | c.1942G>A (p.Asp648Asn) c.2080G>A (p.Asp694Asn) n.6065G>A c.1381G>A (p.Asp461Asn) n.6081G>A c.2038G>A (p.Asp680Asn) n.2254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48251770G= | CA2175420351 | SLC12A1 | c.1942G= (p.Asp648=) c.2080G= (p.Asp694=) n.6065G= c.1381G= (p.Asp461=) n.6081G= c.2038G= (p.Asp680=) n.2254G= | dbSNP |
| 15 | g.48251770G>T | CA392313733 | SLC12A1 | c.1942G>T (p.Asp648Tyr) c.2080G>T (p.Asp694Tyr) n.6065G>T c.1381G>T (p.Asp461Tyr) n.6081G>T c.2038G>T (p.Asp680Tyr) n.2254G>T | dbSNP gnomAD v4 |