| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161047766C>T | CA1203938 | ARHGAP30 | c.3255G>A (p.Arg1085=) c.2724G>A (p.Arg908=) c.2622G>A (p.Arg874=) n.4037G>A c.2811G>A (p.Arg937=) c.3084G>A (p.Arg1028=) c.2853G>A (p.Arg951=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161047766C= | CA1139955627 | ARHGAP30 | c.3255G= (p.Arg1085=) c.2724G= (p.Arg908=) c.2622G= (p.Arg874=) n.4037G= c.2811G= (p.Arg937=) c.3084G= (p.Arg1028=) c.2853G= (p.Arg951=) | dbSNP |
| 1 | g.161047766C>A | CA343317996 | ARHGAP30 | c.3255G>T (p.Arg1085Ser) c.2724G>T (p.Arg908Ser) c.2622G>T (p.Arg874Ser) n.4037G>T c.2811G>T (p.Arg937Ser) c.3084G>T (p.Arg1028Ser) c.2853G>T (p.Arg951Ser) | dbSNP gnomAD v4 |