| 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 |
| 12 | g.109561053G>C | CA386636840 | MMAB | c.571C>G (p.Arg191Gly) c.*136C>G (n.*136C>G) c.415C>G (p.Arg139Gly) c.796C>G (n.796C>G) c.*452C>G (n.*452C>G) n.731C>G c.416C>G (p.Pro139Arg) c.298C>G (p.Arg100Gly) c.295C>G (p.Arg99Gly) n.682C>G | ClinVar dbSNP |
| 12 | g.109561053G= | CA2062448141 | MMAB | c.571C= (p.Arg191=) c.*136C= (n.*136C=) c.415C= (p.Arg139=) c.796C= (n.796C=) c.*452C= (n.*452C=) n.731C= c.416C= (p.Pro139=) c.298C= (p.Arg100=) c.295C= (p.Arg99=) n.682C= | dbSNP |