| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.228315865G>T | CA345169143 | OBSCN | c.13031G>T (p.Arg4344Leu) c.15902G>T (p.Arg5301Leu) c.635G>T (p.Arg212Leu) c.14576G>T (p.Arg4859Leu) c.4693+11412G>T c.16202G>T (p.Arg5401Leu) c.16166G>T (p.Arg5389Leu) c.15938G>T (p.Arg5313Leu) c.15926G>T (p.Arg5309Leu) c.15893G>T (p.Arg5298Leu) c.15674G>T (p.Arg5225Leu) c.15650G>T (p.Arg5217Leu) c.15410G>T (p.Arg5137Leu) c.15146G>T (p.Arg5049Leu) c.15080G>T (p.Arg5027Leu) c.16052G>T (p.Arg5351Leu) c.15662G>T (p.Arg5221Leu) c.15626G>T (p.Arg5209Leu) c.14618G>T (p.Arg4873Leu) c.13298G>T (p.Arg4433Leu) c.14042G>T (p.Arg4681Leu) c.13766G>T (p.Arg4589Leu) c.15629G>T (p.Arg5210Leu) c.15098G>T (p.Arg5033Leu) c.14354G>T (p.Arg4785Leu) c.16247G>T (p.Arg5416Leu) c.16097G>T (p.Arg5366Leu) c.15983G>T (p.Arg5328Leu) c.15971G>T (p.Arg5324Leu) c.15719G>T (p.Arg5240Leu) c.15707G>T (p.Arg5236Leu) c.15695G>T (p.Arg5232Leu) c.15455G>T (p.Arg5152Leu) c.15191G>T (p.Arg5064Leu) c.14663G>T (p.Arg4888Leu) c.13343G>T (p.Arg4448Leu) n.23130G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228315865G>A | CA1436431 | OBSCN | c.13031G>A (p.Arg4344Gln) c.15902G>A (p.Arg5301Gln) c.635G>A (p.Arg212Gln) c.14576G>A (p.Arg4859Gln) c.4693+11412G>A c.16202G>A (p.Arg5401Gln) c.16166G>A (p.Arg5389Gln) c.15938G>A (p.Arg5313Gln) c.15926G>A (p.Arg5309Gln) c.15893G>A (p.Arg5298Gln) c.15674G>A (p.Arg5225Gln) c.15650G>A (p.Arg5217Gln) c.15410G>A (p.Arg5137Gln) c.15146G>A (p.Arg5049Gln) c.15080G>A (p.Arg5027Gln) c.16052G>A (p.Arg5351Gln) c.15662G>A (p.Arg5221Gln) c.15626G>A (p.Arg5209Gln) c.14618G>A (p.Arg4873Gln) c.13298G>A (p.Arg4433Gln) c.14042G>A (p.Arg4681Gln) c.13766G>A (p.Arg4589Gln) c.15629G>A (p.Arg5210Gln) c.15098G>A (p.Arg5033Gln) c.14354G>A (p.Arg4785Gln) c.16247G>A (p.Arg5416Gln) c.16097G>A (p.Arg5366Gln) c.15983G>A (p.Arg5328Gln) c.15971G>A (p.Arg5324Gln) c.15719G>A (p.Arg5240Gln) c.15707G>A (p.Arg5236Gln) c.15695G>A (p.Arg5232Gln) c.15455G>A (p.Arg5152Gln) c.15191G>A (p.Arg5064Gln) c.14663G>A (p.Arg4888Gln) c.13343G>A (p.Arg4448Gln) n.23130G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |