| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17348042C>A | CA640790 | PADI4 | c.1149C>A (p.Arg383=) n.208C>A n.116C>A c.963C>A (p.Arg321=) c.612C>A (p.Arg204=) c.258C>A (p.Arg86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17348042C= | CA1139922412 | PADI4 | c.1149C= (p.Arg383=) n.208C= n.116C= c.963C= (p.Arg321=) c.612C= (p.Arg204=) c.258C= (p.Arg86=) | dbSNP |
| 1 | g.17348042C>T | CA416412201 | PADI4 | c.1149C>T (p.Arg383=) n.208C>T n.116C>T c.963C>T (p.Arg321=) c.612C>T (p.Arg204=) c.258C>T (p.Arg86=) | dbSNP gnomAD v4 |