| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561056G>A | CA223862 | MMAB | c.568C>T (p.Arg190Cys) c.*133C>T (n.*133C>T) c.412C>T (p.Arg138Cys) c.793C>T (n.793C>T) c.*449C>T (n.*449C>T) n.728C>T c.413C>T (p.Pro138Leu) c.295C>T (p.Arg99Cys) c.292C>T (p.Arg98Cys) n.679C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109561056G>C | CA10603291 | MMAB | c.568C>G (p.Arg190Gly) c.*133C>G (n.*133C>G) c.412C>G (p.Arg138Gly) c.793C>G (n.793C>G) c.*449C>G (n.*449C>G) n.728C>G c.413C>G (p.Pro138Arg) c.295C>G (p.Arg99Gly) c.292C>G (p.Arg98Gly) n.679C>G | ClinVar dbSNP |
| 12 | g.109561056G>T | CA386636849 | MMAB | c.568C>A (p.Arg190Ser) c.*133C>A (n.*133C>A) c.412C>A (p.Arg138Ser) c.793C>A (n.793C>A) c.*449C>A (n.*449C>A) n.728C>A c.413C>A (p.Pro138Gln) c.295C>A (p.Arg99Ser) c.292C>A (p.Arg98Ser) n.679C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |