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 |
|---|---|---|---|---|---|
| 22 | g.42128185C>A | CA411773038 | CYP2D6 | c.679G>T (p.Glu227Ter) c.832G>T (p.Glu278Ter) c.499G>T (p.Glu167Ter) c.766G>T (p.Glu256Ter) n.1556G>T c.688G>T (p.Glu230Ter) | |
| 22 | g.42128185C= | CA2406578985 | CYP2D6 | c.679G= (p.Glu227=) c.832G= (p.Glu278=) c.499G= (p.Glu167=) c.766G= (p.Glu256=) n.1556G= c.688G= (p.Glu230=) | |
| 22 | g.42128185C>G | CA411773040 | CYP2D6 | c.679G>C (p.Glu227Gln) c.832G>C (p.Glu278Gln) c.499G>C (p.Glu167Gln) c.766G>C (p.Glu256Gln) n.1556G>C c.688G>C (p.Glu230Gln) | |
| 22 | g.42128185C>T | CA10264854 | CYP2D6 | c.679G>A (p.Glu227Lys) c.832G>A (p.Glu278Lys) c.499G>A (p.Glu167Lys) c.766G>A (p.Glu256Lys) n.1556G>A c.688G>A (p.Glu230Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128186T>A | CA514800263 | CYP2D6 | c.678A>T (p.Ala226=) c.831A>T (p.Ala277=) c.498A>T (p.Ala166=) c.765A>T (p.Ala255=) n.1555A>T c.687A>T (p.Ala229=) | |
| 22 | g.42128186T>C | CA514800264 | CYP2D6 | c.678A>G (p.Ala226=) c.831A>G (p.Ala277=) c.498A>G (p.Ala166=) c.765A>G (p.Ala255=) n.1555A>G c.687A>G (p.Ala229=) | |
| 22 | g.42128186T>G | CA10264855 | CYP2D6 | c.678A>C (p.Ala226=) c.831A>C (p.Ala277=) c.498A>C (p.Ala166=) c.765A>C (p.Ala255=) n.1555A>C c.687A>C (p.Ala229=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42128186T= | CA2406578986 | CYP2D6 | c.678A= (p.Ala226=) c.831A= (p.Ala277=) c.498A= (p.Ala166=) c.765A= (p.Ala255=) n.1555A= c.687A= (p.Ala229=) | |
| 22 | g.42128187G>A | CA411773045 | CYP2D6 | c.677C>T (p.Ala226Val) c.830C>T (p.Ala277Val) c.497C>T (p.Ala166Val) c.764C>T (p.Ala255Val) n.1554C>T c.686C>T (p.Ala229Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128187G>C | CA411773047 | CYP2D6 | c.677C>G (p.Ala226Gly) c.830C>G (p.Ala277Gly) c.497C>G (p.Ala166Gly) c.764C>G (p.Ala255Gly) n.1554C>G c.686C>G (p.Ala229Gly) | gnomAD v4 |
| 22 | g.42128187G= | CA2406578987 | CYP2D6 | c.677C= (p.Ala226=) c.830C= (p.Ala277=) c.497C= (p.Ala166=) c.764C= (p.Ala255=) n.1554C= c.686C= (p.Ala229=) | |
| 22 | g.42128187G>T | CA411773043 | CYP2D6 | c.677C>A (p.Ala226Glu) c.830C>A (p.Ala277Glu) c.497C>A (p.Ala166Glu) c.764C>A (p.Ala255Glu) n.1554C>A c.686C>A (p.Ala229Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128188C>A | CA411773049 | CYP2D6 | c.676G>T (p.Ala226Ser) c.829G>T (p.Ala277Ser) c.496G>T (p.Ala166Ser) c.763G>T (p.Ala255Ser) n.1553G>T c.685G>T (p.Ala229Ser) | |
| 22 | g.42128188C= | CA2406578988 | CYP2D6 | c.676G= (p.Ala226=) c.829G= (p.Ala277=) c.496G= (p.Ala166=) c.763G= (p.Ala255=) n.1553G= c.685G= (p.Ala229=) | |
| 22 | g.42128188C>G | CA411773051 | CYP2D6 | c.676G>C (p.Ala226Pro) c.829G>C (p.Ala277Pro) c.496G>C (p.Ala166Pro) c.763G>C (p.Ala255Pro) n.1553G>C c.685G>C (p.Ala229Pro) | |
| 22 | g.42128188C>T | CA411773053 | CYP2D6 | c.676G>A (p.Ala226Thr) c.829G>A (p.Ala277Thr) c.496G>A (p.Ala166Thr) c.763G>A (p.Ala255Thr) n.1553G>A c.685G>A (p.Ala229Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128189C>A | CA10264856 | CYP2D6 | c.675G>T (p.Leu225=) c.828G>T (p.Leu276=) c.495G>T (p.Leu165=) c.762G>T (p.Leu254=) n.1552G>T c.684G>T (p.Leu228=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128189C= | CA2406578989 | CYP2D6 | c.675G= (p.Leu225=) c.828G= (p.Leu276=) c.495G= (p.Leu165=) c.762G= (p.Leu254=) n.1552G= c.684G= (p.Leu228=) | |
| 22 | g.42128189C>G | CA514800265 | CYP2D6 | c.675G>C (p.Leu225=) c.828G>C (p.Leu276=) c.495G>C (p.Leu165=) c.762G>C (p.Leu254=) n.1552G>C c.684G>C (p.Leu228=) | |
| 22 | g.42128189C>T | CA514800266 | CYP2D6 | c.675G>A (p.Leu225=) c.828G>A (p.Leu276=) c.495G>A (p.Leu165=) c.762G>A (p.Leu254=) n.1552G>A c.684G>A (p.Leu228=) | |
| 22 | g.42128190A= | CA2406578990 | CYP2D6 | c.674T= (p.Leu225=) c.827T= (p.Leu276=) c.494T= (p.Leu165=) c.761T= (p.Leu254=) n.1551T= c.683T= (p.Leu228=) | |
| 22 | g.42128190A>C | CA411773055 | CYP2D6 | c.674T>G (p.Leu225Arg) c.827T>G (p.Leu276Arg) c.494T>G (p.Leu165Arg) c.761T>G (p.Leu254Arg) n.1551T>G c.683T>G (p.Leu228Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128190A>G | CA411773057 | CYP2D6 | c.674T>C (p.Leu225Pro) c.827T>C (p.Leu276Pro) c.494T>C (p.Leu165Pro) c.761T>C (p.Leu254Pro) n.1551T>C c.683T>C (p.Leu228Pro) | |
| 22 | g.42128190A>T | CA411773059 | CYP2D6 | c.674T>A (p.Leu225Gln) c.827T>A (p.Leu276Gln) c.494T>A (p.Leu165Gln) c.761T>A (p.Leu254Gln) n.1551T>A c.683T>A (p.Leu228Gln) | |
| 22 | g.42128191G>A | CA514800267 | CYP2D6 | c.673C>T (p.Leu225=) c.826C>T (p.Leu276=) c.493C>T (p.Leu165=) c.760C>T (p.Leu254=) n.1550C>T c.682C>T (p.Leu228=) | dbSNP gnomAD v2 |
| 22 | g.42128191G>C | CA411773061 | CYP2D6 | c.673C>G (p.Leu225Val) c.826C>G (p.Leu276Val) c.493C>G (p.Leu165Val) c.760C>G (p.Leu254Val) n.1550C>G c.682C>G (p.Leu228Val) | |
| 22 | g.42128191G= | CA2406578991 | CYP2D6 | c.673C= (p.Leu225=) c.826C= (p.Leu276=) c.493C= (p.Leu165=) c.760C= (p.Leu254=) n.1550C= c.682C= (p.Leu228=) | |
| 22 | g.42128191G>T | CA411773063 | CYP2D6 | c.673C>A (p.Leu225Met) c.826C>A (p.Leu276Met) c.493C>A (p.Leu165Met) c.760C>A (p.Leu254Met) n.1550C>A c.682C>A (p.Leu228Met) | gnomAD v4 |
| 22 | g.42128192G>A | CA514800268 | CYP2D6 | c.672C>T (p.Phe224=) c.825C>T (p.Phe275=) c.492C>T (p.Phe164=) c.759C>T (p.Phe253=) n.1549C>T c.681C>T (p.Phe227=) | gnomAD v4 |
| 22 | g.42128192G>C | CA411773064 | CYP2D6 | c.672C>G (p.Phe224Leu) c.825C>G (p.Phe275Leu) c.492C>G (p.Phe164Leu) c.759C>G (p.Phe253Leu) n.1549C>G c.681C>G (p.Phe227Leu) | |
| 22 | g.42128192G>T | CA411773066 | CYP2D6 | c.672C>A (p.Phe224Leu) c.825C>A (p.Phe275Leu) c.492C>A (p.Phe164Leu) c.759C>A (p.Phe253Leu) n.1549C>A c.681C>A (p.Phe227Leu) | |
| 22 | g.42128193A>C | CA411773070 | CYP2D6 | c.671T>G (p.Phe224Cys) c.824T>G (p.Phe275Cys) c.491T>G (p.Phe164Cys) c.758T>G (p.Phe253Cys) n.1548T>G c.680T>G (p.Phe227Cys) | |
| 22 | g.42128193A>G | CA411773071 | CYP2D6 | c.671T>C (p.Phe224Ser) c.824T>C (p.Phe275Ser) c.491T>C (p.Phe164Ser) c.758T>C (p.Phe253Ser) n.1548T>C c.680T>C (p.Phe227Ser) | |
| 22 | g.42128193A>T | CA411773068 | CYP2D6 | c.671T>A (p.Phe224Tyr) c.824T>A (p.Phe275Tyr) c.491T>A (p.Phe164Tyr) c.758T>A (p.Phe253Tyr) n.1548T>A c.680T>A (p.Phe227Tyr) | |
| 22 | g.42128194A>C | CA411773074 | CYP2D6 | c.670T>G (p.Phe224Val) c.823T>G (p.Phe275Val) c.490T>G (p.Phe164Val) c.757T>G (p.Phe253Val) n.1547T>G c.679T>G (p.Phe227Val) | |
| 22 | g.42128194A>G | CA411773075 | CYP2D6 | c.670T>C (p.Phe224Leu) c.823T>C (p.Phe275Leu) c.490T>C (p.Phe164Leu) c.757T>C (p.Phe253Leu) n.1547T>C c.679T>C (p.Phe227Leu) | |
| 22 | g.42128194A>T | CA411773077 | CYP2D6 | c.670T>A (p.Phe224Ile) c.823T>A (p.Phe275Ile) c.490T>A (p.Phe164Ile) c.757T>A (p.Phe253Ile) n.1547T>A c.679T>A (p.Phe227Ile) | |
| 22 | g.42128195G>A | CA10264857 | CYP2D6 | c.669C>T (p.Ala223=) c.822C>T (p.Ala274=) c.489C>T (p.Ala163=) c.756C>T (p.Ala252=) n.1546C>T c.678C>T (p.Ala226=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128195G>C | CA514800269 | CYP2D6 | c.669C>G (p.Ala223=) c.822C>G (p.Ala274=) c.489C>G (p.Ala163=) c.756C>G (p.Ala252=) n.1546C>G c.678C>G (p.Ala226=) | |
| 22 | g.42128195G= | CA2406578992 | CYP2D6 | c.669C= (p.Ala223=) c.822C= (p.Ala274=) c.489C= (p.Ala163=) c.756C= (p.Ala252=) n.1546C= c.678C= (p.Ala226=) | |
| 22 | g.42128195G>T | CA324670838 | CYP2D6 | c.669C>A (p.Ala223=) c.822C>A (p.Ala274=) c.489C>A (p.Ala163=) c.756C>A (p.Ala252=) n.1546C>A c.678C>A (p.Ala226=) | dbSNP gnomAD v4 |
| 22 | g.42128196G>A | CA10264858 | CYP2D6 | c.668C>T (p.Ala223Val) c.821C>T (p.Ala274Val) c.488C>T (p.Ala163Val) c.755C>T (p.Ala252Val) n.1545C>T c.677C>T (p.Ala226Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128196G>C | CA411773082 | CYP2D6 | c.668C>G (p.Ala223Gly) c.821C>G (p.Ala274Gly) c.488C>G (p.Ala163Gly) c.755C>G (p.Ala252Gly) n.1545C>G c.677C>G (p.Ala226Gly) | |
| 22 | g.42128196G= | CA2406578993 | CYP2D6 | c.668C= (p.Ala223=) c.821C= (p.Ala274=) c.488C= (p.Ala163=) c.755C= (p.Ala252=) n.1545C= c.677C= (p.Ala226=) | |
| 22 | g.42128196G>T | CA411773084 | CYP2D6 | c.668C>A (p.Ala223Asp) c.821C>A (p.Ala274Asp) c.488C>A (p.Ala163Asp) c.755C>A (p.Ala252Asp) n.1545C>A c.677C>A (p.Ala226Asp) | |
| 22 | g.42128197C>A | CA411773087 | CYP2D6 | c.667G>T (p.Ala223Ser) c.820G>T (p.Ala274Ser) c.487G>T (p.Ala163Ser) c.754G>T (p.Ala252Ser) n.1544G>T c.676G>T (p.Ala226Ser) | |
| 22 | g.42128197C= | CA2406578994 | CYP2D6 | c.667G= (p.Ala223=) c.820G= (p.Ala274=) c.487G= (p.Ala163=) c.754G= (p.Ala252=) n.1544G= c.676G= (p.Ala226=) | |
| 22 | g.42128197C>G | CA411773088 | CYP2D6 | c.667G>C (p.Ala223Pro) c.820G>C (p.Ala274Pro) c.487G>C (p.Ala163Pro) c.754G>C (p.Ala252Pro) n.1544G>C c.676G>C (p.Ala226Pro) | gnomAD v4 |
| 22 | g.42128197C>T | CA411773090 | CYP2D6 | c.667G>A (p.Ala223Thr) c.820G>A (p.Ala274Thr) c.487G>A (p.Ala163Thr) c.754G>A (p.Ala252Thr) n.1544G>A c.676G>A (p.Ala226Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128198C>A | CA411773092 | CYP2D6 | c.666G>T (p.Glu222Asp) c.819G>T (p.Glu273Asp) c.486G>T (p.Glu162Asp) c.753G>T (p.Glu251Asp) n.1543G>T c.675G>T (p.Glu225Asp) |