| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.80008576A>G | CA357472653 | ANTXR2 | c.986T>C (p.Leu329Pro) c.755T>C (p.Leu252Pro) c.677T>C (p.Leu226Pro) c.*136T>C (n.*136T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.80008576A>C | CA252347 | ANTXR2 | c.986T>G (p.Leu329Arg) c.755T>G (p.Leu252Arg) c.677T>G (p.Leu226Arg) c.*136T>G (n.*136T>G) | ClinVar dbSNP |