| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.14130828G>A | CA024618 | TMEM43 | c.*199G>A (n.*199G>A) c.169G>A (p.Ala57Thr) c.64G>A (p.Ala22Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14130828G>T | CA052070 | TMEM43 | c.*199G>T (n.*199G>T) c.169G>T (p.Ala57Ser) c.64G>T (p.Ala22Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14130828G>C | CA351534491 | TMEM43 | c.*199G>C (n.*199G>C) c.169G>C (p.Ala57Pro) c.64G>C (p.Ala22Pro) | dbSNP gnomAD v4 |
| 3 | g.14130828G= | CA1346968564 | TMEM43 | c.*199G= (n.*199G=) c.169G= (p.Ala57=) c.64G= (p.Ala22=) | dbSNP |