| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583810C>T | CA339968 | ARG1,MED23 | c.871C>T (p.Arg291Ter) c.613C>T (p.Arg205Ter) c.817C>T (p.Arg273Ter) c.*758C>T (n.*758C>T) c.616C>T (p.Arg206Ter) c.4095+3899G>A (n.4095+3899G>A) c.895C>T (p.Arg299Ter) c.4077+3899G>A (n.4077+3899G>A) n.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583810C= | CA1664137844 | ARG1,MED23 | c.871C= (p.Arg291=) c.613C= (p.Arg205=) c.817C= (p.Arg273=) c.*758C= (n.*758C=) c.616C= (p.Arg206=) c.4095+3899G= (n.4095+3899G=) c.895C= (p.Arg299=) c.4077+3899G= (n.4077+3899G=) n.855C= | dbSNP |