| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49196760G>T | CA9569565 | TRPM4 | c.2531G>T (p.Gly844Val) c.2211-3540G>T (n.2211-3540G>T) n.1495G>T c.*1941G>T (n.*1941G>T) n.2628G>T c.*1644G>T (n.*1644G>T) c.*1486G>T (n.*1486G>T) c.1244G>T (p.Gly415Val) c.923G>T (p.Gly308Val) c.2009G>T (p.Gly670Val) c.2186G>T (p.Gly729Val) c.1469G>T (p.Gly490Val) c.557G>T (p.Gly186Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49196760G>A | CA090939 | TRPM4 | c.2531G>A (p.Gly844Asp) c.2211-3540G>A (n.2211-3540G>A) n.1495G>A c.*1941G>A (n.*1941G>A) n.2628G>A c.*1644G>A (n.*1644G>A) c.*1486G>A (n.*1486G>A) c.1244G>A (p.Gly415Asp) c.923G>A (p.Gly308Asp) c.2009G>A (p.Gly670Asp) c.2186G>A (p.Gly729Asp) c.1469G>A (p.Gly490Asp) c.557G>A (p.Gly186Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |