| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.22116400A>T | CA210693 | HR | c.3407T>A (p.Val1136Asp) c.3242T>A (p.Val1081Asp) n.1600T>A c.3410T>A (p.Val1137Asp) c.3245T>A (p.Val1082Asp) | ClinVar dbSNP |
| 8 | g.22116400A>G | CA370514100 | HR | c.3407T>C (p.Val1136Ala) c.3242T>C (p.Val1081Ala) n.1600T>C c.3410T>C (p.Val1137Ala) c.3245T>C (p.Val1082Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |