| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42726390G>C | CA269898493 | CDAN1 | c.3124C>G (p.Arg1042Gly) c.*2255C>G (n.*2255C>G) c.1070C>G (n.1070C>G) c.3127C>G (p.Arg1043Gly) c.3151C>G (p.Arg1051Gly) c.3148C>G (p.Arg1050Gly) c.*26C>G (n.*26C>G) c.2116C>G (p.Arg706Gly) c.2368C>G (p.Arg790Gly) n.3181C>G n.3134C>G | dbSNP |
| 15 | g.42726390G>A | CA342451 | CDAN1 | c.3124C>T (p.Arg1042Trp) c.*2255C>T (n.*2255C>T) c.1070C>T (n.1070C>T) c.3127C>T (p.Arg1043Trp) c.3151C>T (p.Arg1051Trp) c.3148C>T (p.Arg1050Trp) c.*26C>T (n.*26C>T) c.2116C>T (p.Arg706Trp) c.2368C>T (p.Arg790Trp) n.3181C>T n.3134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42726390G>T | CA489894158 | CDAN1 | c.3124C>A (p.Arg1042=) c.*2255C>A (n.*2255C>A) c.1070C>A (n.1070C>A) c.3127C>A (p.Arg1043=) c.3151C>A (p.Arg1051=) c.3148C>A (p.Arg1050=) c.*26C>A (n.*26C>A) c.2116C>A (p.Arg706=) c.2368C>A (p.Arg790=) n.3181C>A n.3134C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |