Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.67711673G>C | CA413423538 | AR | c.*505G>C (n.*505G>C) c.2157G>C (p.Trp719Cys) c.784G>C (n.784G>C) c.561G>C (p.Trp187Cys) c.1587G>C (p.Trp529Cys) | dbSNP |
X | g.67711673G>A | CA120680 | AR | c.*505G>A (n.*505G>A) c.2157G>A (p.Trp719Ter) c.784G>A (n.784G>A) c.561G>A (p.Trp187Ter) c.1587G>A (p.Trp529Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.67711673G>T | CA413423539 | AR | c.*505G>T (n.*505G>T) c.2157G>T (p.Trp719Cys) c.784G>T (n.784G>T) c.561G>T (p.Trp187Cys) c.1587G>T (p.Trp529Cys) | dbSNP |