| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561053G>T | CA481711090 | MMAB | c.571C>A (p.Arg191=) c.*136C>A (n.*136C>A) c.415C>A (p.Arg139=) c.796C>A (n.796C>A) c.*452C>A (n.*452C>A) n.731C>A c.416C>A (p.Pro139Gln) c.298C>A (p.Arg100=) c.295C>A (p.Arg99=) n.682C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109561053G>A | CA347810 | MMAB | c.571C>T (p.Arg191Trp) c.*136C>T (n.*136C>T) c.415C>T (p.Arg139Trp) c.796C>T (n.796C>T) c.*452C>T (n.*452C>T) n.731C>T c.416C>T (p.Pro139Leu) c.298C>T (p.Arg100Trp) c.295C>T (p.Arg99Trp) n.682C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |