| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109557081G>A | CA312718 | MMAB | c.700C>T (p.Gln234Ter) c.*265C>T (n.*265C>T) c.544C>T (p.Gln182Ter) c.925C>T (n.925C>T) c.*581C>T (n.*581C>T) n.860C>T c.*47C>T (n.*47C>T) c.427C>T (p.Gln143Ter) c.424C>T (p.Gln142Ter) n.811C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109557081G= | CA2062444094 | MMAB | c.700C= (p.Gln234=) c.*265C= (n.*265C=) c.544C= (p.Gln182=) c.925C= (n.925C=) c.*581C= (n.*581C=) n.860C= c.*47C= (n.*47C=) c.427C= (p.Gln143=) c.424C= (p.Gln142=) n.811C= | dbSNP |