| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.968024T>C | CA114825 | RSPO4 | c.194A>G (p.Gln65Arg) c.242A>G (p.Gln81Arg) n.314A>G n.309A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968024T>A | CA407970524 | RSPO4 | c.194A>T (p.Gln65Leu) c.242A>T (p.Gln81Leu) n.314A>T n.309A>T | dbSNP gnomAD v4 |
| 20 | g.968024T= | CA2345447911 | RSPO4 | c.194A= (p.Gln65=) c.242A= (p.Gln81=) n.314A= n.309A= | dbSNP |