| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.14141692G>A | CA024580 | TMEM43 | c.*1130G>A (n.*1130G>A) c.1100G>A (p.Gly367Asp) n.327+2395G>A c.236+2395G>A c.995G>A (p.Gly332Asp) | ClinVar dbSNP gnomAD v2 |
| 3 | g.14141692G= | CA1346973861 | TMEM43 | c.*1130G= (n.*1130G=) c.1100G= (p.Gly367=) n.327+2395G= c.236+2395G= c.995G= (p.Gly332=) | dbSNP |