| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70599055G>T | CA5538950 | PALD1,PRF1 | c.2586G>T (p.Lys862Asn) c.2250+34536G>T (n.2250+34536G>T) c.2430G>T (p.Lys810Asn) n.2890G>T n.2734G>T c.666C>A (p.His222Gln) c.540-1214C>A (n.540-1214C>A) n.98-1214C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70599055G= | CA1918330606 | PALD1,PRF1 | c.2586G= (p.Lys862=) c.2250+34536G= (n.2250+34536G=) c.2430G= (p.Lys810=) n.2890G= n.2734G= c.666C= (p.His222=) c.540-1214C= (n.540-1214C=) n.98-1214C= | dbSNP |