| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1882687G>A | CA369956932 | ARHGEF10 | c.1013G>A (p.Arg338Lys) c.1541G>A c.*967G>A (n.*967G>A) c.281G>A (p.Arg94Lys) c.1088G>A (p.Arg363Lys) c.899G>A (p.Arg300Lys) n.709G>A c.32G>A (p.Arg11Lys) n.737G>A c.1016G>A (p.Arg339Lys) c.896G>A (p.Arg299Lys) c.971G>A (p.Arg324Lys) c.1100G>A (p.Arg367Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1882687G>C | CA233138 | ARHGEF10 | c.1013G>C (p.Arg338Thr) c.1541G>C c.*967G>C (n.*967G>C) c.281G>C (p.Arg94Thr) c.1088G>C (p.Arg363Thr) c.899G>C (p.Arg300Thr) n.709G>C c.32G>C (p.Arg11Thr) n.737G>C c.1016G>C (p.Arg339Thr) c.896G>C (p.Arg299Thr) c.971G>C (p.Arg324Thr) c.1100G>C (p.Arg367Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1882687G>T | CA369956933 | ARHGEF10 | c.1013G>T (p.Arg338Met) c.1541G>T c.*967G>T (n.*967G>T) c.281G>T (p.Arg94Met) c.1088G>T (p.Arg363Met) c.899G>T (p.Arg300Met) n.709G>T c.32G>T (p.Arg11Met) n.737G>T c.1016G>T (p.Arg339Met) c.896G>T (p.Arg299Met) c.971G>T (p.Arg324Met) c.1100G>T (p.Arg367Met) | dbSNP gnomAD v4 |
| 8 | g.1882687G= | CA1757727708 | ARHGEF10 | c.1013G= (p.Arg338=) c.1541G= c.*967G= (n.*967G=) c.281G= (p.Arg94=) c.1088G= (p.Arg363=) c.899G= (p.Arg300=) n.709G= c.32G= (p.Arg11=) n.737G= c.1016G= (p.Arg339=) c.896G= (p.Arg299=) c.971G= (p.Arg324=) c.1100G= (p.Arg367=) | dbSNP |