Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65196790C>T | CA7615075 | CILP | c.3496G>A (p.Gly1166Ser) c.3577G>A (p.Gly1193Ser) c.3424G>A (p.Gly1142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65196790C>A | CA392850345 | CILP | c.3496G>T (p.Gly1166Cys) c.3577G>T (p.Gly1193Cys) c.3424G>T (p.Gly1142Cys) | dbSNP gnomAD v4 |
15 | g.65196790C>G | CA392850346 | CILP | c.3496G>C (p.Gly1166Arg) c.3577G>C (p.Gly1193Arg) c.3424G>C (p.Gly1142Arg) | dbSNP |