| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122119472G>A | CA2569363 | CD86 | c.928G>A (p.Ala310Thr) c.766G>A (p.Ala256Thr) c.910G>A (p.Ala304Thr) c.682G>A (p.Ala228Thr) c.770G>A c.592G>A (p.Ala198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122119472G>C | CA354163844 | CD86 | c.928G>C (p.Ala310Pro) c.766G>C (p.Ala256Pro) c.910G>C (p.Ala304Pro) c.682G>C (p.Ala228Pro) c.770G>C c.592G>C (p.Ala198Pro) | dbSNP |
| 3 | g.122119472G= | CA1397810679 | CD86 | c.928G= (p.Ala310=) c.766G= (p.Ala256=) c.910G= (p.Ala304=) c.682G= (p.Ala228=) c.770G= c.592G= (p.Ala198=) | |
| 3 | g.122119472G>T | CA354163845 | CD86 | c.928G>T (p.Ala310Ser) c.766G>T (p.Ala256Ser) c.910G>T (p.Ala304Ser) c.682G>T (p.Ala228Ser) c.770G>T c.592G>T (p.Ala198Ser) | |
| 3 | g.122119473C>A | CA354163846 | CD86 | c.929C>A (p.Ala310Asp) c.767C>A (p.Ala256Asp) c.911C>A (p.Ala304Asp) c.683C>A (p.Ala228Asp) c.771C>A c.593C>A (p.Ala198Asp) | gnomAD v4 |
| 3 | g.122119473C>G | CA354163847 | CD86 | c.929C>G (p.Ala310Gly) c.767C>G (p.Ala256Gly) c.911C>G (p.Ala304Gly) c.683C>G (p.Ala228Gly) c.771C>G c.593C>G (p.Ala198Gly) | gnomAD v4 |
| 3 | g.122119473C>T | CA354163848 | CD86 | c.929C>T (p.Ala310Val) c.767C>T (p.Ala256Val) c.911C>T (p.Ala304Val) c.683C>T (p.Ala228Val) c.771C>T c.593C>T (p.Ala198Val) | |
| 3 | g.122119474C>A | CA435252269 | CD86 | c.930C>A (p.Ala310=) c.768C>A (p.Ala256=) c.912C>A (p.Ala304=) c.684C>A (p.Ala228=) c.772C>A c.594C>A (p.Ala198=) | gnomAD v4 |
| 3 | g.122119474C>G | CA435252270 | CD86 | c.930C>G (p.Ala310=) c.768C>G (p.Ala256=) c.912C>G (p.Ala304=) c.684C>G (p.Ala228=) c.772C>G c.594C>G (p.Ala198=) | |
| 3 | g.122119474C>T | CA435252271 | CD86 | c.930C>T (p.Ala310=) c.768C>T (p.Ala256=) c.912C>T (p.Ala304=) c.684C>T (p.Ala228=) c.772C>T c.594C>T (p.Ala198=) | |
| 3 | g.122119475C>A | CA354163849 | CD86 | c.931C>A (p.Gln311Lys) c.769C>A (p.Gln257Lys) c.913C>A (p.Gln305Lys) c.685C>A (p.Gln229Lys) c.773C>A c.595C>A (p.Gln199Lys) | |
| 3 | g.122119475C= | CA1397810682 | CD86 | c.931C= (p.Gln311=) c.769C= (p.Gln257=) c.913C= (p.Gln305=) c.685C= (p.Gln229=) c.773C= c.595C= (p.Gln199=) | |
| 3 | g.122119475C>G | CA2569364 | CD86 | c.931C>G (p.Gln311Glu) c.769C>G (p.Gln257Glu) c.913C>G (p.Gln305Glu) c.685C>G (p.Gln229Glu) c.773C>G c.595C>G (p.Gln199Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122119475C>T | CA354163850 | CD86 | c.931C>T (p.Gln311Ter) c.769C>T (p.Gln257Ter) c.913C>T (p.Gln305Ter) c.685C>T (p.Gln229Ter) c.773C>T c.595C>T (p.Gln199Ter) | |
| 3 | g.122119476A>C | CA354163851 | CD86 | c.932A>C (p.Gln311Pro) c.770A>C (p.Gln257Pro) c.914A>C (p.Gln305Pro) c.686A>C (p.Gln229Pro) c.774A>C c.596A>C (p.Gln199Pro) | |
| 3 | g.122119476A>G | CA354163852 | CD86 | c.932A>G (p.Gln311Arg) c.770A>G (p.Gln257Arg) c.914A>G (p.Gln305Arg) c.686A>G (p.Gln229Arg) c.774A>G c.596A>G (p.Gln199Arg) | |
| 3 | g.122119476A>T | CA354163853 | CD86 | c.932A>T (p.Gln311Leu) c.770A>T (p.Gln257Leu) c.914A>T (p.Gln305Leu) c.686A>T (p.Gln229Leu) c.774A>T c.596A>T (p.Gln199Leu) | gnomAD v4 |
| 3 | g.122119477G>A | CA435252272 | CD86 | c.933G>A (p.Gln311=) c.771G>A (p.Gln257=) c.915G>A (p.Gln305=) c.687G>A (p.Gln229=) c.775G>A c.597G>A (p.Gln199=) | gnomAD v4 |
| 3 | g.122119477G>C | CA354163854 | CD86 | c.933G>C (p.Gln311His) c.771G>C (p.Gln257His) c.915G>C (p.Gln305His) c.687G>C (p.Gln229His) c.775G>C c.597G>C (p.Gln199His) | |
| 3 | g.122119477G>T | CA354163855 | CD86 | c.933G>T (p.Gln311His) c.771G>T (p.Gln257His) c.915G>T (p.Gln305His) c.687G>T (p.Gln229His) c.775G>T c.597G>T (p.Gln199His) | |
| 3 | g.122119478C>A | CA2569366 | CD86 | c.934C>A (p.Arg312Ser) c.772C>A (p.Arg258Ser) c.916C>A (p.Arg306Ser) c.688C>A (p.Arg230Ser) c.776C>A c.598C>A (p.Arg200Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122119478C= | CA1397810687 | CD86 | c.934C= (p.Arg312=) c.772C= (p.Arg258=) c.916C= (p.Arg306=) c.688C= (p.Arg230=) c.776C= c.598C= (p.Arg200=) | |
| 3 | g.122119478C>G | CA354163856 | CD86 | c.934C>G (p.Arg312Gly) c.772C>G (p.Arg258Gly) c.916C>G (p.Arg306Gly) c.688C>G (p.Arg230Gly) c.776C>G c.598C>G (p.Arg200Gly) | |
| 3 | g.122119478C>T | CA2569365 | CD86 | c.934C>T (p.Arg312Cys) c.772C>T (p.Arg258Cys) c.916C>T (p.Arg306Cys) c.688C>T (p.Arg230Cys) c.776C>T c.598C>T (p.Arg200Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122119479G>A | CA2569367 | CD86 | c.935G>A (p.Arg312His) c.773G>A (p.Arg258His) c.917G>A (p.Arg306His) c.689G>A (p.Arg230His) c.777G>A c.599G>A (p.Arg200His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122119479G>C | CA354163857 | CD86 | c.935G>C (p.Arg312Pro) c.773G>C (p.Arg258Pro) c.917G>C (p.Arg306Pro) c.689G>C (p.Arg230Pro) c.777G>C c.599G>C (p.Arg200Pro) | gnomAD v4 |
| 3 | g.122119479G= | CA1397810692 | CD86 | c.935G= (p.Arg312=) c.773G= (p.Arg258=) c.917G= (p.Arg306=) c.689G= (p.Arg230=) c.777G= c.599G= (p.Arg200=) | |
| 3 | g.122119479G>T | CA354163858 | CD86 | c.935G>T (p.Arg312Leu) c.773G>T (p.Arg258Leu) c.917G>T (p.Arg306Leu) c.689G>T (p.Arg230Leu) c.777G>T c.599G>T (p.Arg200Leu) | |
| 3 | g.122119481_122119482del | CA2667228389 | CD86 | c.937_938del (p.Val313PhefsTer2) c.775_776del (p.Val259PhefsTer2) c.919_920del (p.Val307PhefsTer2) c.691_692del (p.Val231PhefsTer2) c.779_780del c.601_602del (p.Val201PhefsTer2) | gnomAD v4 |
| 3 | g.122119480T>A | CA435252273 | CD86 | c.936T>A (p.Arg312=) c.774T>A (p.Arg258=) c.918T>A (p.Arg306=) c.690T>A (p.Arg230=) c.778T>A c.600T>A (p.Arg200=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122119480T>C | CA435252274 | CD86 | c.936T>C (p.Arg312=) c.774T>C (p.Arg258=) c.918T>C (p.Arg306=) c.690T>C (p.Arg230=) c.778T>C c.600T>C (p.Arg200=) | |
| 3 | g.122119480T>G | CA435252275 | CD86 | c.936T>G (p.Arg312=) c.774T>G (p.Arg258=) c.918T>G (p.Arg306=) c.690T>G (p.Arg230=) c.778T>G c.600T>G (p.Arg200=) | |
| 3 | g.122119480T= | CA1397810694 | CD86 | c.936T= (p.Arg312=) c.774T= (p.Arg258=) c.918T= (p.Arg306=) c.690T= (p.Arg230=) c.778T= c.600T= (p.Arg200=) | |
| 3 | g.122119481G>A | CA354163860 | CD86 | c.937G>A (p.Val313Ile) c.775G>A (p.Val259Ile) c.919G>A (p.Val307Ile) c.691G>A (p.Val231Ile) c.779G>A c.601G>A (p.Val201Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122119481G>C | CA354163861 | CD86 | c.937G>C (p.Val313Leu) c.775G>C (p.Val259Leu) c.919G>C (p.Val307Leu) c.691G>C (p.Val231Leu) c.779G>C c.601G>C (p.Val201Leu) | |
| 3 | g.122119481G= | CA1397810695 | CD86 | c.937G= (p.Val313=) c.775G= (p.Val259=) c.919G= (p.Val307=) c.691G= (p.Val231=) c.779G= c.601G= (p.Val201=) | |
| 3 | g.122119481G>T | CA354163859 | CD86 | c.937G>T (p.Val313Phe) c.775G>T (p.Val259Phe) c.919G>T (p.Val307Phe) c.691G>T (p.Val231Phe) c.779G>T c.601G>T (p.Val201Phe) | |
| 3 | g.122119482T>A | CA354163863 | CD86 | c.938T>A (p.Val313Asp) c.776T>A (p.Val259Asp) c.920T>A (p.Val307Asp) c.692T>A (p.Val231Asp) c.780T>A c.602T>A (p.Val201Asp) | |
| 3 | g.122119482T>C | CA354163862 | CD86 | c.938T>C (p.Val313Ala) c.776T>C (p.Val259Ala) c.920T>C (p.Val307Ala) c.692T>C (p.Val231Ala) c.780T>C c.602T>C (p.Val201Ala) | |
| 3 | g.122119482T>G | CA354163864 | CD86 | c.938T>G (p.Val313Gly) c.776T>G (p.Val259Gly) c.920T>G (p.Val307Gly) c.692T>G (p.Val231Gly) c.780T>G c.602T>G (p.Val201Gly) | |
| 3 | g.122119483T>A | CA435252276 | CD86 | c.939T>A (p.Val313=) c.777T>A (p.Val259=) c.921T>A (p.Val307=) c.693T>A (p.Val231=) c.781T>A c.603T>A (p.Val201=) | |
| 3 | g.122119483T>C | CA435252277 | CD86 | c.939T>C (p.Val313=) c.777T>C (p.Val259=) c.921T>C (p.Val307=) c.693T>C (p.Val231=) c.781T>C c.603T>C (p.Val201=) | |
| 3 | g.122119483T>G | CA435252278 | CD86 | c.939T>G (p.Val313=) c.777T>G (p.Val259=) c.921T>G (p.Val307=) c.693T>G (p.Val231=) c.781T>G c.603T>G (p.Val201=) | |
| 3 | g.122119484T>A | CA354163865 | CD86 | c.940T>A (p.Phe314Ile) c.778T>A (p.Phe260Ile) c.922T>A (p.Phe308Ile) c.694T>A (p.Phe232Ile) c.782T>A c.604T>A (p.Phe202Ile) | COSMIC |
| 3 | g.122119484T>C | CA354163867 | CD86 | c.940T>C (p.Phe314Leu) c.778T>C (p.Phe260Leu) c.922T>C (p.Phe308Leu) c.694T>C (p.Phe232Leu) c.782T>C c.604T>C (p.Phe202Leu) | |
| 3 | g.122119484T>G | CA354163866 | CD86 | c.940T>G (p.Phe314Val) c.778T>G (p.Phe260Val) c.922T>G (p.Phe308Val) c.694T>G (p.Phe232Val) c.782T>G c.604T>G (p.Phe202Val) | |
| 3 | g.122119485T>A | CA354163868 | CD86 | c.941T>A (p.Phe314Tyr) c.779T>A (p.Phe260Tyr) c.923T>A (p.Phe308Tyr) c.695T>A (p.Phe232Tyr) c.783T>A c.605T>A (p.Phe202Tyr) | |
| 3 | g.122119485T>C | CA354163870 | CD86 | c.941T>C (p.Phe314Ser) c.779T>C (p.Phe260Ser) c.923T>C (p.Phe308Ser) c.695T>C (p.Phe232Ser) c.783T>C c.605T>C (p.Phe202Ser) | |
| 3 | g.122119485T>G | CA354163869 | CD86 | c.941T>G (p.Phe314Cys) c.779T>G (p.Phe260Cys) c.923T>G (p.Phe308Cys) c.695T>G (p.Phe232Cys) c.783T>G c.605T>G (p.Phe202Cys) | |
| 3 | g.122119486T>A | CA354163871 | CD86 | c.942T>A (p.Phe314Leu) c.780T>A (p.Phe260Leu) c.924T>A (p.Phe308Leu) c.696T>A (p.Phe232Leu) c.784T>A c.606T>A (p.Phe202Leu) |