| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.176151875A>C | CA1978084 | HOXD3,HOXD4 | c.242A>C (p.Glu81Ala) c.-85+14876A>C (n.-85+14876A>C) c.-180-12198A>C (n.-180-12198A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.176151875A>T | CA124435 | HOXD3,HOXD4 | c.242A>T (p.Glu81Val) c.-85+14876A>T (n.-85+14876A>T) c.-180-12198A>T (n.-180-12198A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |