| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.3770916C>T | CA114875 | RAX2 | c.260G>A (p.Arg87Gln) c.398G>A (p.Arg133Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770916C>G | CA403375032 | RAX2 | c.260G>C (p.Arg87Pro) c.398G>C (p.Arg133Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770916C>A | CA403375030 | RAX2 | c.260G>T (p.Arg87Leu) c.398G>T (p.Arg133Leu) | dbSNP gnomAD v2 gnomAD v4 |