| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.127613804G>A | CA123479 | PAX4 | c.514C>T (p.Arg172Trp) c.490C>T (p.Arg164Trp) c.484C>T (p.Arg162Trp) n.484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.127613804G>T | CA457524955 | PAX4 | c.514C>A (p.Arg172=) c.490C>A (p.Arg164=) c.484C>A (p.Arg162=) n.484C>A | dbSNP gnomAD v4 |
| 7 | g.127613804G= | CA1742009456 | PAX4 | c.514C= (p.Arg172=) c.490C= (p.Arg164=) c.484C= (p.Arg162=) n.484C= | dbSNP |
| 7 | g.127613804G>C | CA369174442 | PAX4 | c.514C>G (p.Arg172Gly) c.490C>G (p.Arg164Gly) c.484C>G (p.Arg162Gly) n.484C>G | dbSNP gnomAD v4 |