Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.124875145G>A | CA6343699 | ROBO3 | c.2108G>A (p.Arg703Gln) c.2042G>A (p.Arg681Gln) c.3080G>A (p.Arg1027Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.124875145G>C | CA115384 | ROBO3 | c.2108G>C (p.Arg703Pro) c.2042G>C (p.Arg681Pro) c.3080G>C (p.Arg1027Pro) | ClinVar dbSNP |