| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.79026002G>A | CA16618332 | PHIP | c.781C>T (p.Arg261Ter) c.703C>T (p.Arg235Ter) c.763C>T (p.Arg255Ter) c.*574C>T (n.*574C>T) c.247C>T (p.Arg83Ter) n.989C>T c.-967C>T (n.-967C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.79026002G>T | CA451017357 | PHIP | c.781C>A (p.Arg261=) c.703C>A (p.Arg235=) c.763C>A (p.Arg255=) c.*574C>A (n.*574C>A) c.247C>A (p.Arg83=) n.989C>A c.-967C>A (n.-967C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.79026002G>C | CA364639716 | PHIP | c.781C>G (p.Arg261Gly) c.703C>G (p.Arg235Gly) c.763C>G (p.Arg255Gly) c.*574C>G (n.*574C>G) c.247C>G (p.Arg83Gly) n.989C>G c.-967C>G (n.-967C>G) | dbSNP gnomAD v4 |
| 6 | g.79026002G= | CA1640411352 | PHIP | c.781C= (p.Arg261=) c.703C= (p.Arg235=) c.763C= (p.Arg255=) c.*574C= (n.*574C=) c.247C= (p.Arg83=) n.989C= c.-967C= (n.-967C=) | dbSNP |