| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67717495G>A | CA120709 | AR | c.*539G>A (n.*539G>A) c.2191G>A (p.Val731Met) c.818G>A (n.818G>A) c.2173+5806G>A (n.2173+5806G>A) c.595G>A (p.Val199Met) c.1621G>A (p.Val541Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.67717495G>C | CA413424340 | AR | c.*539G>C (n.*539G>C) c.2191G>C (p.Val731Leu) c.818G>C (n.818G>C) c.2173+5806G>C (n.2173+5806G>C) c.595G>C (p.Val199Leu) c.1621G>C (p.Val541Leu) | dbSNP |
| X | g.67717495G= | CA2435132630 | AR | c.*539G= (n.*539G=) c.2191G= (p.Val731=) c.818G= (n.818G=) c.2173+5806G= (n.2173+5806G=) c.595G= (p.Val199=) c.1621G= (p.Val541=) | dbSNP |
| X | g.67717495G>T | CA413424342 | AR | c.*539G>T (n.*539G>T) c.2191G>T (p.Val731Leu) c.818G>T (n.818G>T) c.2173+5806G>T (n.2173+5806G>T) c.595G>T (p.Val199Leu) c.1621G>T (p.Val541Leu) | dbSNP gnomAD v4 |