| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.170383792C>T | CA117876 | KCNIP1,KCNMB1 | c.193G>A (p.Glu65Lys) c.88+29828C>T (n.88+29828C>T) n.478+29828C>T c.-1+29828C>T (n.-1+29828C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.170383792C= | CA1600349559 | KCNIP1,KCNMB1 | c.193G= (p.Glu65=) c.88+29828C= (n.88+29828C=) n.478+29828C= c.-1+29828C= (n.-1+29828C=) | dbSNP |