| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.79211665G>C | CA150588 | MAF,WWOX | c.*228G>C (n.*228G>C) c.1114G>C (p.Gly372Arg) c.467G>C (p.Gly156Ala) c.574G>C (p.Gly192Arg) c.543G>C (p.Trp181Cys) n.181G>C c.*911G>C (n.*911G>C) c.775G>C (p.Gly259Arg) c.1210G>C (p.Gly404Arg) c.*86G>C (n.*86G>C) c.200G>C (p.Gly67Ala) c.*1265C>G (n.*1265C>G) n.4467C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.79211665G>T | CA396537070 | MAF,WWOX | c.*228G>T (n.*228G>T) c.1114G>T (p.Gly372Ter) c.467G>T (p.Gly156Val) c.574G>T (p.Gly192Ter) c.543G>T (p.Trp181Cys) n.181G>T c.*911G>T (n.*911G>T) c.775G>T (p.Gly259Ter) c.1210G>T (p.Gly404Ter) c.*86G>T (n.*86G>T) c.200G>T (p.Gly67Val) c.*1265C>A (n.*1265C>A) n.4467C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.79211665G>A | CA396537069 | MAF,WWOX | c.*228G>A (n.*228G>A) c.1114G>A (p.Gly372Arg) c.467G>A (p.Gly156Glu) c.574G>A (p.Gly192Arg) c.543G>A (p.Trp181Ter) n.181G>A c.*911G>A (n.*911G>A) c.775G>A (p.Gly259Arg) c.1210G>A (p.Gly404Arg) c.*86G>A (n.*86G>A) c.200G>A (p.Gly67Glu) c.*1265C>T (n.*1265C>T) n.4467C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |