| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73490373dup | CA16043771 | ALMS1 | c.8033dup (p.Gln2680SerfsTer17) c.1425dup c.5485dup c.2480dup (p.Gln829SerfsTer17) c.8414dup (p.Gln2807SerfsTer17) c.896-29402dup c.3030+215dup (n.3030+215dup) c.8288dup (p.Gln2765SerfsTer17) n.2217dup c.8417dup (p.Gln2808SerfsTer17) | ClinVar dbSNP |
| 2 | g.73490373C= | CA3085915240 | ALMS1 | c.8033C= (p.Ser2678=) c.1425C= c.5485C= c.2480C= (p.Ser827=) c.8414C= (p.Ser2805=) c.896-29402C= c.3030+215C= (n.3030+215C=) c.8288C= (p.Ser2763=) n.2217C= c.8417C= (p.Ser2806=) | dbSNP |