| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.75556198A>T | CA130590 | TMEM231 | c.12T>A (p.Tyr4Ter) n.55T>A n.65T>A n.48T>A c.2T>A (p.Met1Lys) c.74T>A (p.Met25Lys) n.89T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.75556198A>G | CA8176319 | TMEM231 | c.12T>C (p.Tyr4=) n.55T>C n.65T>C n.48T>C c.2T>C (p.Met1Thr) c.74T>C (p.Met25Thr) n.89T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |