| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49200395A>G | CA250718 | TRPM4 | c.2741A>G (p.Lys914Arg) c.2306A>G (p.Lys769Arg) n.1705A>G c.*2151A>G (n.*2151A>G) n.2838A>G c.*1854A>G (n.*1854A>G) c.*1696A>G (n.*1696A>G) c.1454A>G (p.Lys485Arg) c.1133A>G (p.Lys378Arg) c.2219A>G (p.Lys740Arg) c.2396A>G (p.Lys799Arg) c.1679A>G (p.Lys560Arg) c.767A>G (p.Lys256Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.49200395A= | CA2340289396 | TRPM4 | c.2741A= (p.Lys914=) c.2306A= (p.Lys769=) n.1705A= c.*2151A= (n.*2151A=) n.2838A= c.*1854A= (n.*1854A=) c.*1696A= (n.*1696A=) c.1454A= (p.Lys485=) c.1133A= (p.Lys378=) c.2219A= (p.Lys740=) c.2396A= (p.Lys799=) c.1679A= (p.Lys560=) c.767A= (p.Lys256=) | dbSNP |