| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.78970876G>A | CA3899825 | IRAK1BP1,PHIP | c.2920C>T (p.Arg974Ter) c.2842C>T (p.Arg948Ter) c.2899C>T (p.Arg967Ter) c.2941C>T (p.Arg981Ter) n.332C>T c.2902C>T (p.Arg968Ter) n.191C>T c.2386C>T (p.Arg796Ter) n.3128C>T c.1237C>T (p.Arg413Ter) n.818-8257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.78970876G= | CA1640385417 | IRAK1BP1,PHIP | c.2920C= (p.Arg974=) c.2842C= (p.Arg948=) c.2899C= (p.Arg967=) c.2941C= (p.Arg981=) n.332C= c.2902C= (p.Arg968=) n.191C= c.2386C= (p.Arg796=) n.3128C= c.1237C= (p.Arg413=) n.818-8257G= | dbSNP |