| 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 |
| 1 | g.228315865G= | CA1141122771 | OBSCN | c.13031G= (p.Arg4344=) c.15902G= (p.Arg5301=) c.635G= (p.Arg212=) c.14576G= (p.Arg4859=) c.4693+11412G= c.16202G= (p.Arg5401=) c.16166G= (p.Arg5389=) c.15938G= (p.Arg5313=) c.15926G= (p.Arg5309=) c.15893G= (p.Arg5298=) c.15674G= (p.Arg5225=) c.15650G= (p.Arg5217=) c.15410G= (p.Arg5137=) c.15146G= (p.Arg5049=) c.15080G= (p.Arg5027=) c.16052G= (p.Arg5351=) c.15662G= (p.Arg5221=) c.15626G= (p.Arg5209=) c.14618G= (p.Arg4873=) c.13298G= (p.Arg4433=) c.14042G= (p.Arg4681=) c.13766G= (p.Arg4589=) c.15629G= (p.Arg5210=) c.15098G= (p.Arg5033=) c.14354G= (p.Arg4785=) c.16247G= (p.Arg5416=) c.16097G= (p.Arg5366=) c.15983G= (p.Arg5328=) c.15971G= (p.Arg5324=) c.15719G= (p.Arg5240=) c.15707G= (p.Arg5236=) c.15695G= (p.Arg5232=) c.15455G= (p.Arg5152=) c.15191G= (p.Arg5064=) c.14663G= (p.Arg4888=) c.13343G= (p.Arg4448=) n.23130G= | dbSNP |
| 1 | g.228315865G>C | CA345169145 | OBSCN | c.13031G>C (p.Arg4344Pro) c.15902G>C (p.Arg5301Pro) c.635G>C (p.Arg212Pro) c.14576G>C (p.Arg4859Pro) c.4693+11412G>C c.16202G>C (p.Arg5401Pro) c.16166G>C (p.Arg5389Pro) c.15938G>C (p.Arg5313Pro) c.15926G>C (p.Arg5309Pro) c.15893G>C (p.Arg5298Pro) c.15674G>C (p.Arg5225Pro) c.15650G>C (p.Arg5217Pro) c.15410G>C (p.Arg5137Pro) c.15146G>C (p.Arg5049Pro) c.15080G>C (p.Arg5027Pro) c.16052G>C (p.Arg5351Pro) c.15662G>C (p.Arg5221Pro) c.15626G>C (p.Arg5209Pro) c.14618G>C (p.Arg4873Pro) c.13298G>C (p.Arg4433Pro) c.14042G>C (p.Arg4681Pro) c.13766G>C (p.Arg4589Pro) c.15629G>C (p.Arg5210Pro) c.15098G>C (p.Arg5033Pro) c.14354G>C (p.Arg4785Pro) c.16247G>C (p.Arg5416Pro) c.16097G>C (p.Arg5366Pro) c.15983G>C (p.Arg5328Pro) c.15971G>C (p.Arg5324Pro) c.15719G>C (p.Arg5240Pro) c.15707G>C (p.Arg5236Pro) c.15695G>C (p.Arg5232Pro) c.15455G>C (p.Arg5152Pro) c.15191G>C (p.Arg5064Pro) c.14663G>C (p.Arg4888Pro) c.13343G>C (p.Arg4448Pro) n.23130G>C | dbSNP gnomAD v4 |