| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.47502992C>T | CA8040444 | PHKB | c.286C>T (p.Arg96Ter) c.307C>T (p.Arg103Ter) n.96+41566C>T n.322C>T c.141C>T c.-1199C>T (n.-1199C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.47502992C= | CA2220377979 | PHKB | c.286C= (p.Arg96=) c.307C= (p.Arg103=) n.96+41566C= n.322C= c.141C= c.-1199C= (n.-1199C=) | dbSNP |
| 16 | g.47502992C>A | CA495356798 | PHKB | c.286C>A (p.Arg96=) c.307C>A (p.Arg103=) n.96+41566C>A n.322C>A c.141C>A c.-1199C>A (n.-1199C>A) | ClinVar dbSNP gnomAD v4 |