| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65201874A>G | CA118128 | CILP | c.1184T>C (p.Ile395Thr) c.1265T>C (p.Ile422Thr) c.1112T>C (p.Ile371Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65201874A>C | CA392867300 | CILP | c.1184T>G (p.Ile395Arg) c.1265T>G (p.Ile422Arg) c.1112T>G (p.Ile371Arg) | dbSNP |
| 15 | g.65201874A= | CA2183504986 | CILP | c.1184T= (p.Ile395=) c.1265T= (p.Ile422=) c.1112T= (p.Ile371=) | dbSNP |
| 15 | g.65201874A>T | CA392867302 | CILP | c.1184T>A (p.Ile395Lys) c.1265T>A (p.Ile422Lys) c.1112T>A (p.Ile371Lys) | dbSNP gnomAD v4 |