UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.122119486T>C | CA82750723 | CD86 | c.942T>C (p.Phe314=) c.780T>C (p.Phe260=) c.924T>C (p.Phe308=) c.696T>C (p.Phe232=) c.784T>C c.606T>C (p.Phe202=) | dbSNP |
| 3 | g.122119486T>G | CA354163872 | CD86 | c.942T>G (p.Phe314Leu) c.780T>G (p.Phe260Leu) c.924T>G (p.Phe308Leu) c.696T>G (p.Phe232Leu) c.784T>G c.606T>G (p.Phe202Leu) | |
| 3 | g.122119486T= | CA1397810699 | CD86 | c.942T= (p.Phe314=) c.780T= (p.Phe260=) c.924T= (p.Phe308=) c.696T= (p.Phe232=) c.784T= c.606T= (p.Phe202=) | |
| 3 | g.122119487A>C | CA354163873 | CD86 | c.943A>C (p.Lys315Gln) c.781A>C (p.Lys261Gln) c.925A>C (p.Lys309Gln) c.697A>C (p.Lys233Gln) c.785A>C c.607A>C (p.Lys203Gln) | |
| 3 | g.122119487A>G | CA354163874 | CD86 | c.943A>G (p.Lys315Glu) c.781A>G (p.Lys261Glu) c.925A>G (p.Lys309Glu) c.697A>G (p.Lys233Glu) c.785A>G c.607A>G (p.Lys203Glu) | gnomAD v4 COSMIC |
| 3 | g.122119487A>T | CA354163875 | CD86 | c.943A>T (p.Lys315Ter) c.781A>T (p.Lys261Ter) c.925A>T (p.Lys309Ter) c.697A>T (p.Lys233Ter) c.785A>T c.607A>T (p.Lys203Ter) | |
| 3 | g.122119488A= | CA1397810702 | CD86 | c.944A= (p.Lys315=) c.782A= (p.Lys261=) c.926A= (p.Lys309=) c.698A= (p.Lys233=) c.786A= c.608A= (p.Lys203=) | |
| 3 | g.122119488A>C | CA354163876 | CD86 | c.944A>C (p.Lys315Thr) c.782A>C (p.Lys261Thr) c.926A>C (p.Lys309Thr) c.698A>C (p.Lys233Thr) c.786A>C c.608A>C (p.Lys203Thr) | |
| 3 | g.122119488A>G | CA354163877 | CD86 | c.944A>G (p.Lys315Arg) c.782A>G (p.Lys261Arg) c.926A>G (p.Lys309Arg) c.698A>G (p.Lys233Arg) c.786A>G c.608A>G (p.Lys203Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122119488A>T | CA354163878 | CD86 | c.944A>T (p.Lys315Ile) c.782A>T (p.Lys261Ile) c.926A>T (p.Lys309Ile) c.698A>T (p.Lys233Ile) c.786A>T c.608A>T (p.Lys203Ile) | |
| 3 | g.122119489A>C | CA354163879 | CD86 | c.945A>C (p.Lys315Asn) c.783A>C (p.Lys261Asn) c.927A>C (p.Lys309Asn) c.699A>C (p.Lys233Asn) c.787A>C c.609A>C (p.Lys203Asn) | |
| 3 | g.122119489A>G | CA435252279 | CD86 | c.945A>G (p.Lys315=) c.783A>G (p.Lys261=) c.927A>G (p.Lys309=) c.699A>G (p.Lys233=) c.787A>G c.609A>G (p.Lys203=) | |
| 3 | g.122119489A>T | CA354163880 | CD86 | c.945A>T (p.Lys315Asn) c.783A>T (p.Lys261Asn) c.927A>T (p.Lys309Asn) c.699A>T (p.Lys233Asn) c.787A>T c.609A>T (p.Lys203Asn) | |
| 3 | g.122119490A>C | CA354163881 | CD86 | c.946A>C (p.Ser316Arg) c.784A>C (p.Ser262Arg) c.928A>C (p.Ser310Arg) c.700A>C (p.Ser234Arg) c.788A>C c.610A>C (p.Ser204Arg) | |
| 3 | g.122119490A>G | CA354163882 | CD86 | c.946A>G (p.Ser316Gly) c.784A>G (p.Ser262Gly) c.928A>G (p.Ser310Gly) c.700A>G (p.Ser234Gly) c.788A>G c.610A>G (p.Ser204Gly) | gnomAD v4 |
| 3 | g.122119490A>T | CA354163883 | CD86 | c.946A>T (p.Ser316Cys) c.784A>T (p.Ser262Cys) c.928A>T (p.Ser310Cys) c.700A>T (p.Ser234Cys) c.788A>T c.610A>T (p.Ser204Cys) | |
| 3 | g.122119491G>A | CA2569368 | CD86 | c.947G>A (p.Ser316Asn) c.785G>A (p.Ser262Asn) c.929G>A (p.Ser310Asn) c.701G>A (p.Ser234Asn) c.789G>A c.611G>A (p.Ser204Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122119491G>C | CA354163884 | CD86 | c.947G>C (p.Ser316Thr) c.785G>C (p.Ser262Thr) c.929G>C (p.Ser310Thr) c.701G>C (p.Ser234Thr) c.789G>C c.611G>C (p.Ser204Thr) | gnomAD v4 |
| 3 | g.122119491G= | CA1397810706 | CD86 | c.947G= (p.Ser316=) c.785G= (p.Ser262=) c.929G= (p.Ser310=) c.701G= (p.Ser234=) c.789G= c.611G= (p.Ser204=) | |
| 3 | g.122119491G>T | CA354163885 | CD86 | c.947G>T (p.Ser316Ile) c.785G>T (p.Ser262Ile) c.929G>T (p.Ser310Ile) c.701G>T (p.Ser234Ile) c.789G>T c.611G>T (p.Ser204Ile) | |
| 3 | g.122119492T>A | CA354163886 | CD86 | c.948T>A (p.Ser316Arg) c.786T>A (p.Ser262Arg) c.930T>A (p.Ser310Arg) c.702T>A (p.Ser234Arg) c.790T>A c.612T>A (p.Ser204Arg) | |
| 3 | g.122119492T>C | CA435252280 | CD86 | c.948T>C (p.Ser316=) c.786T>C (p.Ser262=) c.930T>C (p.Ser310=) c.702T>C (p.Ser234=) c.790T>C c.612T>C (p.Ser204=) | gnomAD v4 |
| 3 | g.122119492T>G | CA354163887 | CD86 | c.948T>G (p.Ser316Arg) c.786T>G (p.Ser262Arg) c.930T>G (p.Ser310Arg) c.702T>G (p.Ser234Arg) c.790T>G c.612T>G (p.Ser204Arg) | |
| 3 | g.122119493T>A | CA354163888 | CD86 | c.949T>A (p.Ser317Thr) c.787T>A (p.Ser263Thr) c.931T>A (p.Ser311Thr) c.703T>A (p.Ser235Thr) c.791T>A c.613T>A (p.Ser205Thr) | |
| 3 | g.122119493T>C | CA82750731 | CD86 | c.949T>C (p.Ser317Pro) c.787T>C (p.Ser263Pro) c.931T>C (p.Ser311Pro) c.703T>C (p.Ser235Pro) c.791T>C c.613T>C (p.Ser205Pro) | dbSNP gnomAD v4 |
| 3 | g.122119493T>G | CA354163889 | CD86 | c.949T>G (p.Ser317Ala) c.787T>G (p.Ser263Ala) c.931T>G (p.Ser311Ala) c.703T>G (p.Ser235Ala) c.791T>G c.613T>G (p.Ser205Ala) | |
| 3 | g.122119493T= | CA1397810708 | CD86 | c.949T= (p.Ser317=) c.787T= (p.Ser263=) c.931T= (p.Ser311=) c.703T= (p.Ser235=) c.791T= c.613T= (p.Ser205=) | |
| 3 | g.122119494C>A | CA354163890 | CD86 | c.950C>A (p.Ser317Ter) c.788C>A (p.Ser263Ter) c.932C>A (p.Ser311Ter) c.704C>A (p.Ser235Ter) c.792C>A c.614C>A (p.Ser205Ter) | gnomAD v4 |