| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.61397797C>T | CA144308 | TMEM216 | c.253C>T (p.Arg85Ter) n.576C>T n.315C>T c.-6C>T (n.-6C>T) c.299C>T (p.Ala100Val) c.70C>T (p.Arg24Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.61397797C>G | CA6034733 | TMEM216 | c.253C>G (p.Arg85Gly) n.576C>G n.315C>G c.-6C>G (n.-6C>G) c.299C>G (p.Ala100Gly) c.70C>G (p.Arg24Gly) | dbSNP ExAC gnomAD v2 |
| 11 | g.61397797C>A | CA6034732 | TMEM216 | c.253C>A (p.Arg85=) n.576C>A n.315C>A c.-6C>A (n.-6C>A) c.299C>A (p.Ala100Glu) c.70C>A (p.Arg24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |