| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161360193C>T | CA344225 | PRKN | c.1058G>A (n.1058G>A) c.939G>A (n.939G>A) c.1180G>A (p.Asp394Asn) c.1261G>A n.565G>A n.816G>A c.607G>A (p.Asp203Asn) c.733G>A (p.Asp245Asn) c.1096G>A (p.Asp366Asn) c.*62-9982G>A (n.*62-9982G>A) c.313G>A (p.Asp105Asn) c.1177G>A (p.Asp393Asn) c.1294G>A (p.Asp432Asn) c.940G>A (p.Asp314Asn) c.943G>A (p.Asp315Asn) n.1372G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.161360193C= | CA1677492816 | PRKN | c.1058G= (n.1058G=) c.939G= (n.939G=) c.1180G= (p.Asp394=) c.1261G= n.565G= n.816G= c.607G= (p.Asp203=) c.733G= (p.Asp245=) c.1096G= (p.Asp366=) c.*62-9982G= (n.*62-9982G=) c.313G= (p.Asp105=) c.1177G= (p.Asp393=) c.1294G= (p.Asp432=) c.940G= (p.Asp314=) c.943G= (p.Asp315=) n.1372G= | dbSNP |