| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561076T>A | CA278559 | MMAB | c.548A>T (p.His183Leu) c.*113A>T (n.*113A>T) c.392A>T (p.His131Leu) c.773A>T (n.773A>T) c.*429A>T (n.*429A>T) n.708A>T c.393A>T (p.Ala131=) c.275A>T (p.His92Leu) c.272A>T (p.His91Leu) n.659A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109561076T= | CA2062448228 | MMAB | c.548A= (p.His183=) c.*113A= (n.*113A=) c.392A= (p.His131=) c.773A= (n.773A=) c.*429A= (n.*429A=) n.708A= c.393A= (p.Ala131=) c.275A= (p.His92=) c.272A= (p.His91=) n.659A= | dbSNP |