| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.16598169T>C | CA119335 | DAZL | c.160A>G (p.Thr54Ala) c.220A>G (p.Thr74Ala) c.274A>G (p.Thr92Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.16598169T>G | CA2280427 | DAZL | c.160A>C (p.Thr54Pro) c.220A>C (p.Thr74Pro) c.274A>C (p.Thr92Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |