| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.80036011C>T | CA100500964 | ANTXR2 | c.658G>A (p.Glu220Lys) c.427G>A (p.Glu143Lys) c.636+18261G>A (n.636+18261G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.80036011C>A | CA252349 | ANTXR2 | c.658G>T (p.Glu220Ter) c.427G>T (p.Glu143Ter) c.636+18261G>T (n.636+18261G>T) | ClinVar dbSNP gnomAD v4 |