| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659682G>A | CA274092 | PKHD1 | c.10444C>T (p.Arg3482Cys) c.10315C>T (p.Arg3439Cys) c.10306C>T (p.Arg3436Cys) c.9802C>T (p.Arg3268Cys) c.9733C>T (p.Arg3245Cys) c.10157-10462C>T (n.10157-10462C>T) c.4519C>T (p.Arg1507Cys) n.535+7309G>A n.403+7309G>A c.10369C>T (p.Arg3457Cys) c.10249C>T (p.Arg3417Cys) c.10180C>T (p.Arg3394Cys) c.8584C>T (p.Arg2862Cys) n.10720C>T n.3145+7309G>A n.3013+7309G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.51659682G>T | CA364435258 | PKHD1 | c.10444C>A (p.Arg3482Ser) c.10315C>A (p.Arg3439Ser) c.10306C>A (p.Arg3436Ser) c.9802C>A (p.Arg3268Ser) c.9733C>A (p.Arg3245Ser) c.10157-10462C>A (n.10157-10462C>A) c.4519C>A (p.Arg1507Ser) n.535+7309G>T n.403+7309G>T c.10369C>A (p.Arg3457Ser) c.10249C>A (p.Arg3417Ser) c.10180C>A (p.Arg3394Ser) c.8584C>A (p.Arg2862Ser) n.10720C>A n.3145+7309G>T n.3013+7309G>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.51659682G= | CA1628439556 | PKHD1 | c.10444C= (p.Arg3482=) c.10315C= (p.Arg3439=) c.10306C= (p.Arg3436=) c.9802C= (p.Arg3268=) c.9733C= (p.Arg3245=) c.10157-10462C= (n.10157-10462C=) c.4519C= (p.Arg1507=) n.535+7309G= n.403+7309G= c.10369C= (p.Arg3457=) c.10249C= (p.Arg3417=) c.10180C= (p.Arg3394=) c.8584C= (p.Arg2862=) n.10720C= n.3145+7309G= n.3013+7309G= | dbSNP |