| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638281G>T | CA130030 | KCTD7 | c.343G>T (p.Asp115Tyr) c.321G>T c.173G>T (p.Gly58Val) c.168G>T c.147G>T c.213G>T | ClinVar dbSNP |
| 7 | g.66638281G>A | CA367696098 | KCTD7 | c.343G>A (p.Asp115Asn) c.321G>A c.173G>A (p.Gly58Glu) c.168G>A c.147G>A c.213G>A | dbSNP |
| 7 | g.66638281G= | CA1714178052 | KCTD7 | c.343G= (p.Asp115=) c.321G= c.173G= (p.Gly58=) c.168G= c.147G= c.213G= | dbSNP |