| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66633410C>T | CA130028 | KCTD7 | c.280C>T (p.Arg94Trp) c.258C>T c.144+4202C>T (n.144+4202C>T) c.139+4202C>T c.118+4202C>T c.150C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633410C= | CA1714174506 | KCTD7 | c.280C= (p.Arg94=) c.258C= c.144+4202C= (n.144+4202C=) c.139+4202C= c.118+4202C= c.150C= | dbSNP |