| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48288516T>C | CA7547535 | SLC12A1 | c.2873T>C (p.Val958Ala) c.3011T>C (p.Val1004Ala) n.6996T>C n.7012T>C c.2969T>C (p.Val990Ala) n.1001+1262A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48288516T>G | CA392318388 | SLC12A1 | c.2873T>G (p.Val958Gly) c.3011T>G (p.Val1004Gly) n.6996T>G n.7012T>G c.2969T>G (p.Val990Gly) n.1001+1262A>C | ClinVar dbSNP |
| 15 | g.48288516T= | CA2175418208 | SLC12A1 | c.2873T= (p.Val958=) c.3011T= (p.Val1004=) n.6996T= n.7012T= c.2969T= (p.Val990=) n.1001+1262A= | dbSNP |