| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17331039G>T | CA338231599 | PADI4 | c.163G>T (p.Gly55Cys) c.166+592C>A (n.166+592C>A) | dbSNP |
| 1 | g.17331039G>A | CA640362 | PADI4 | c.163G>A (p.Gly55Ser) c.166+592C>T (n.166+592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17331039G= | CA1140243721 | PADI4 | c.163G= (p.Gly55=) c.166+592C= (n.166+592C=) | dbSNP |