| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65197350T>A | CA392853656 | CILP | c.2936A>T (p.Gln979Leu) c.3017A>T (p.Gln1006Leu) c.2864A>T (p.Gln955Leu) | dbSNP gnomAD v4 |
| 15 | g.65197350T>G | CA392853660 | CILP | c.2936A>C (p.Gln979Pro) c.3017A>C (p.Gln1006Pro) c.2864A>C (p.Gln955Pro) | dbSNP gnomAD v4 |
| 15 | g.65197350T>C | CA7615202 | CILP | c.2936A>G (p.Gln979Arg) c.3017A>G (p.Gln1006Arg) c.2864A>G (p.Gln955Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |