| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.78870935C>T | CA8807703 | CEP295NL,TIMP2 | c.72G>A (p.Ser24=) c.303G>A (p.Ser101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870935C>G | CA502131148 | CEP295NL,TIMP2 | c.72G>C (p.Ser24=) c.303G>C (p.Ser101=) | dbSNP gnomAD v4 |
| 17 | g.78870935C>A | CA502131150 | CEP295NL,TIMP2 | c.72G>T (p.Ser24=) c.303G>T (p.Ser101=) | dbSNP gnomAD v4 |
| 17 | g.78870935C= | CA2277198166 | CEP295NL,TIMP2 | c.72G= (p.Ser24=) c.303G= (p.Ser101=) | dbSNP |