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 |
|---|---|---|---|---|---|
| 11 | g.71437834A>C | CA381702919 | DHCR7 | c.941T>G (p.Leu314Arg) c.767T>G (p.Leu256Arg) c.992T>G (p.Leu331Arg) c.977T>G (p.Leu326Arg) n.981T>G c.356T>G (p.Leu119Arg) c.845T>G (p.Leu282Arg) c.308T>G (p.Leu103Arg) c.191T>G (p.Leu64Arg) c.297T>G | gnomAD v4 |
| 11 | g.71437834A>G | CA381702920 | DHCR7 | c.941T>C (p.Leu314Pro) c.767T>C (p.Leu256Pro) c.992T>C (p.Leu331Pro) c.977T>C (p.Leu326Pro) n.981T>C c.356T>C (p.Leu119Pro) c.845T>C (p.Leu282Pro) c.308T>C (p.Leu103Pro) c.191T>C (p.Leu64Pro) c.297T>C | |
| 11 | g.71437834A>T | CA381702921 | DHCR7 | c.941T>A (p.Leu314Gln) c.767T>A (p.Leu256Gln) c.992T>A (p.Leu331Gln) c.977T>A (p.Leu326Gln) n.981T>A c.356T>A (p.Leu119Gln) c.845T>A (p.Leu282Gln) c.308T>A (p.Leu103Gln) c.191T>A (p.Leu64Gln) c.297T>A | |
| 11 | g.71437835G>A | CA475567228 | DHCR7 | c.940C>T (p.Leu314=) c.766C>T (p.Leu256=) c.991C>T (p.Leu331=) c.976C>T (p.Leu326=) n.980C>T c.355C>T (p.Leu119=) c.844C>T (p.Leu282=) c.307C>T (p.Leu103=) c.190C>T (p.Leu64=) c.296C>T | |
| 11 | g.71437835G>C | CA381702923 | DHCR7 | c.940C>G (p.Leu314Val) c.766C>G (p.Leu256Val) c.991C>G (p.Leu331Val) c.976C>G (p.Leu326Val) n.980C>G c.355C>G (p.Leu119Val) c.844C>G (p.Leu282Val) c.307C>G (p.Leu103Val) c.190C>G (p.Leu64Val) c.296C>G | gnomAD v4 |
| 11 | g.71437835G>T | CA381702922 | DHCR7 | c.940C>A (p.Leu314Met) c.766C>A (p.Leu256Met) c.991C>A (p.Leu331Met) c.976C>A (p.Leu326Met) n.980C>A c.355C>A (p.Leu119Met) c.844C>A (p.Leu282Met) c.307C>A (p.Leu103Met) c.190C>A (p.Leu64Met) c.296C>A | |
| 11 | g.71437836C>A | CA381702924 | DHCR7 | c.939G>T (p.Trp313Cys) c.765G>T (p.Trp255Cys) c.990G>T (p.Trp330Cys) c.975G>T (p.Trp325Cys) n.979G>T c.354G>T (p.Trp118Cys) c.843G>T (p.Trp281Cys) c.306G>T (p.Trp102Cys) c.189G>T (p.Trp63Cys) c.295G>T | |
| 11 | g.71437836C= | CA1981488012 | DHCR7 | c.939G= (p.Trp313=) c.765G= (p.Trp255=) c.990G= (p.Trp330=) c.975G= (p.Trp325=) n.979G= c.354G= (p.Trp118=) c.843G= (p.Trp281=) c.306G= (p.Trp102=) c.189G= (p.Trp63=) c.295G= | |
| 11 | g.71437836C>G | CA381702925 | DHCR7 | c.939G>C (p.Trp313Cys) c.765G>C (p.Trp255Cys) c.990G>C (p.Trp330Cys) c.975G>C (p.Trp325Cys) n.979G>C c.354G>C (p.Trp118Cys) c.843G>C (p.Trp281Cys) c.306G>C (p.Trp102Cys) c.189G>C (p.Trp63Cys) c.295G>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.71437836C>T | CA381702926 | DHCR7 | c.939G>A (p.Trp313Ter) c.765G>A (p.Trp255Ter) c.990G>A (p.Trp330Ter) c.975G>A (p.Trp325Ter) n.979G>A c.354G>A (p.Trp118Ter) c.843G>A (p.Trp281Ter) c.306G>A (p.Trp102Ter) c.189G>A (p.Trp63Ter) c.295G>A | ClinVar dbSNP |
| 11 | g.71437837C>A | CA381702927 | DHCR7 | c.938G>T (p.Trp313Leu) c.764G>T (p.Trp255Leu) c.989G>T (p.Trp330Leu) c.974G>T (p.Trp325Leu) n.978G>T c.353G>T (p.Trp118Leu) c.842G>T (p.Trp281Leu) c.305G>T (p.Trp102Leu) c.188G>T (p.Trp63Leu) c.294G>T | |
| 11 | g.71437837C>G | CA381702928 | DHCR7 | c.938G>C (p.Trp313Ser) c.764G>C (p.Trp255Ser) c.989G>C (p.Trp330Ser) c.974G>C (p.Trp325Ser) n.978G>C c.353G>C (p.Trp118Ser) c.842G>C (p.Trp281Ser) c.305G>C (p.Trp102Ser) c.188G>C (p.Trp63Ser) c.294G>C | |
| 11 | g.71437837C>T | CA381702929 | DHCR7 | c.938G>A (p.Trp313Ter) c.764G>A (p.Trp255Ter) c.989G>A (p.Trp330Ter) c.974G>A (p.Trp325Ter) n.978G>A c.353G>A (p.Trp118Ter) c.842G>A (p.Trp281Ter) c.305G>A (p.Trp102Ter) c.188G>A (p.Trp63Ter) c.294G>A | |
| 11 | g.71437838A>C | CA381702930 | DHCR7 | c.937T>G (p.Trp313Gly) c.763T>G (p.Trp255Gly) c.988T>G (p.Trp330Gly) c.973T>G (p.Trp325Gly) n.977T>G c.352T>G (p.Trp118Gly) c.841T>G (p.Trp281Gly) c.304T>G (p.Trp102Gly) c.187T>G (p.Trp63Gly) c.293T>G | |
| 11 | g.71437838A>G | CA381702931 | DHCR7 | c.937T>C (p.Trp313Arg) c.763T>C (p.Trp255Arg) c.988T>C (p.Trp330Arg) c.973T>C (p.Trp325Arg) n.977T>C c.352T>C (p.Trp118Arg) c.841T>C (p.Trp281Arg) c.304T>C (p.Trp102Arg) c.187T>C (p.Trp63Arg) c.293T>C | |
| 11 | g.71437838A>T | CA381702932 | DHCR7 | c.937T>A (p.Trp313Arg) c.763T>A (p.Trp255Arg) c.988T>A (p.Trp330Arg) c.973T>A (p.Trp325Arg) n.977T>A c.352T>A (p.Trp118Arg) c.841T>A (p.Trp281Arg) c.304T>A (p.Trp102Arg) c.187T>A (p.Trp63Arg) c.293T>A | |
| 11 | g.71437839G>A | CA475567251 | DHCR7 | c.936C>T (p.Val312=) c.762C>T (p.Val254=) c.987C>T (p.Val329=) c.972C>T (p.Val324=) n.976C>T c.351C>T (p.Val117=) c.840C>T (p.Val280=) c.303C>T (p.Val101=) c.186C>T (p.Val62=) c.292C>T | |
| 11 | g.71437839G>C | CA475567260 | DHCR7 | c.936C>G (p.Val312=) c.762C>G (p.Val254=) c.987C>G (p.Val329=) c.972C>G (p.Val324=) n.976C>G c.351C>G (p.Val117=) c.840C>G (p.Val280=) c.303C>G (p.Val101=) c.186C>G (p.Val62=) c.292C>G | ClinVar |
| 11 | g.71437839G>T | CA475567263 | DHCR7 | c.936C>A (p.Val312=) c.762C>A (p.Val254=) c.987C>A (p.Val329=) c.972C>A (p.Val324=) n.976C>A c.351C>A (p.Val117=) c.840C>A (p.Val280=) c.303C>A (p.Val101=) c.186C>A (p.Val62=) c.292C>A | |
| 11 | g.71437839_71437841del | CA912973039 | DHCR7 | c.934_936del (p.Val312del) c.760_762del (p.Val254del) c.985_987del (p.Val329del) c.970_972del (p.Val324del) n.974_976del c.349_351del (p.Val117del) c.838_840del (p.Val280del) c.301_303del (p.Val101del) c.184_186del (p.Val62del) c.290_292del | |
| 11 | g.71437839_71437841delinsGAC | CA1981488013 | DHCR7 | c.934_936delinsGTC (p.Val312=) c.760_762delinsGTC (p.Val254=) c.985_987delinsGTC (p.Val329=) c.970_972delinsGTC (p.Val324=) n.974_976delinsGTC c.349_351delinsGTC (p.Val117=) c.838_840delinsGTC (p.Val280=) c.301_303delinsGTC (p.Val101=) c.184_186delinsGTC (p.Val62=) c.290_292delinsGTC | |
| 11 | g.71437840A>C | CA381702933 | DHCR7 | c.935T>G (p.Val312Gly) c.761T>G (p.Val254Gly) c.986T>G (p.Val329Gly) c.971T>G (p.Val324Gly) n.975T>G c.350T>G (p.Val117Gly) c.839T>G (p.Val280Gly) c.302T>G (p.Val101Gly) c.185T>G (p.Val62Gly) c.291T>G | |
| 11 | g.71437840A>G | CA381702934 | DHCR7 | c.935T>C (p.Val312Ala) c.761T>C (p.Val254Ala) c.986T>C (p.Val329Ala) c.971T>C (p.Val324Ala) n.975T>C c.350T>C (p.Val117Ala) c.839T>C (p.Val280Ala) c.302T>C (p.Val101Ala) c.185T>C (p.Val62Ala) c.291T>C | |
| 11 | g.71437840A>T | CA381702935 | DHCR7 | c.935T>A (p.Val312Asp) c.761T>A (p.Val254Asp) c.986T>A (p.Val329Asp) c.971T>A (p.Val324Asp) n.975T>A c.350T>A (p.Val117Asp) c.839T>A (p.Val280Asp) c.302T>A (p.Val101Asp) c.185T>A (p.Val62Asp) c.291T>A | |
| 11 | g.71437843_71437844del | CA658823155 | DHCR7 | c.934_935del (p.Val312LeufsTer?) c.760_761del (p.Val254LeufsTer?) c.985_986del (p.Val329LeufsTer?) c.934_935del (p.Val312LeufsTer27) c.970_971del (p.Val324LeufsTer?) n.974_975del c.349_350del (p.Val117LeufsTer?) c.838_839del (p.Val280LeufsTer?) c.301_302del (p.Val101LeufsTer?) c.184_185del (p.Val62LeufsTer?) c.290_291del | ClinVar dbSNP |
| 11 | g.71437841C>A | CA381702938 | DHCR7 | c.934G>T (p.Val312Phe) c.760G>T (p.Val254Phe) c.985G>T (p.Val329Phe) c.970G>T (p.Val324Phe) n.974G>T c.349G>T (p.Val117Phe) c.838G>T (p.Val280Phe) c.301G>T (p.Val101Phe) c.184G>T (p.Val62Phe) c.290G>T | |
| 11 | g.71437841C>G | CA381702937 | DHCR7 | c.934G>C (p.Val312Leu) c.760G>C (p.Val254Leu) c.985G>C (p.Val329Leu) c.970G>C (p.Val324Leu) n.974G>C c.349G>C (p.Val117Leu) c.838G>C (p.Val280Leu) c.301G>C (p.Val101Leu) c.184G>C (p.Val62Leu) c.290G>C | |
| 11 | g.71437841C>T | CA381702936 | DHCR7 | c.934G>A (p.Val312Ile) c.760G>A (p.Val254Ile) c.985G>A (p.Val329Ile) c.970G>A (p.Val324Ile) n.974G>A c.349G>A (p.Val117Ile) c.838G>A (p.Val280Ile) c.301G>A (p.Val101Ile) c.184G>A (p.Val62Ile) c.290G>A | gnomAD v4 |
| 11 | g.71437842A>C | CA381702939 | DHCR7 | c.933T>G (p.Cys311Trp) c.759T>G (p.Cys253Trp) c.984T>G (p.Cys328Trp) c.969T>G (p.Cys323Trp) n.973T>G c.348T>G (p.Cys116Trp) c.837T>G (p.Cys279Trp) c.300T>G (p.Cys100Trp) c.183T>G (p.Cys61Trp) c.289T>G | |
| 11 | g.71437842A>G | CA475567279 | DHCR7 | c.933T>C (p.Cys311=) c.759T>C (p.Cys253=) c.984T>C (p.Cys328=) c.969T>C (p.Cys323=) n.973T>C c.348T>C (p.Cys116=) c.837T>C (p.Cys279=) c.300T>C (p.Cys100=) c.183T>C (p.Cys61=) c.289T>C | |
| 11 | g.71437842A>T | CA381702940 | DHCR7 | c.933T>A (p.Cys311Ter) c.759T>A (p.Cys253Ter) c.984T>A (p.Cys328Ter) c.969T>A (p.Cys323Ter) n.973T>A c.348T>A (p.Cys116Ter) c.837T>A (p.Cys279Ter) c.300T>A (p.Cys100Ter) c.183T>A (p.Cys61Ter) c.289T>A | |
| 11 | g.71437843C>A | CA381702941 | DHCR7 | c.932G>T (p.Cys311Phe) c.758G>T (p.Cys253Phe) c.983G>T (p.Cys328Phe) c.968G>T (p.Cys323Phe) n.972G>T c.347G>T (p.Cys116Phe) c.836G>T (p.Cys279Phe) c.299G>T (p.Cys100Phe) c.182G>T (p.Cys61Phe) c.288G>T | |
| 11 | g.71437843C= | CA1981488014 | DHCR7 | c.932G= (p.Cys311=) c.758G= (p.Cys253=) c.983G= (p.Cys328=) c.968G= (p.Cys323=) n.972G= c.347G= (p.Cys116=) c.836G= (p.Cys279=) c.299G= (p.Cys100=) c.182G= (p.Cys61=) c.288G= | |
| 11 | g.71437843C>G | CA381702942 | DHCR7 | c.932G>C (p.Cys311Ser) c.758G>C (p.Cys253Ser) c.983G>C (p.Cys328Ser) c.968G>C (p.Cys323Ser) n.972G>C c.347G>C (p.Cys116Ser) c.836G>C (p.Cys279Ser) c.299G>C (p.Cys100Ser) c.182G>C (p.Cys61Ser) c.288G>C | gnomAD v4 |
| 11 | g.71437843C>T | CA381702943 | DHCR7 | c.932G>A (p.Cys311Tyr) c.758G>A (p.Cys253Tyr) c.983G>A (p.Cys328Tyr) c.968G>A (p.Cys323Tyr) n.972G>A c.347G>A (p.Cys116Tyr) c.836G>A (p.Cys279Tyr) c.299G>A (p.Cys100Tyr) c.182G>A (p.Cys61Tyr) c.288G>A | dbSNP gnomAD v4 |
| 11 | g.71437844A= | CA1981488015 | DHCR7 | c.931T= (p.Cys311=) c.757T= (p.Cys253=) c.982T= (p.Cys328=) c.967T= (p.Cys323=) n.971T= c.346T= (p.Cys116=) c.835T= (p.Cys279=) c.298T= (p.Cys100=) c.181T= (p.Cys61=) c.287T= | |
| 11 | g.71437844A>C | CA381702944 | DHCR7 | c.931T>G (p.Cys311Gly) c.757T>G (p.Cys253Gly) c.982T>G (p.Cys328Gly) c.967T>G (p.Cys323Gly) n.971T>G c.346T>G (p.Cys116Gly) c.835T>G (p.Cys279Gly) c.298T>G (p.Cys100Gly) c.181T>G (p.Cys61Gly) c.287T>G | |
| 11 | g.71437844A>G | CA381702945 | DHCR7 | c.931T>C (p.Cys311Arg) c.757T>C (p.Cys253Arg) c.982T>C (p.Cys328Arg) c.967T>C (p.Cys323Arg) n.971T>C c.346T>C (p.Cys116Arg) c.835T>C (p.Cys279Arg) c.298T>C (p.Cys100Arg) c.181T>C (p.Cys61Arg) c.287T>C | ClinVar dbSNP |
| 11 | g.71437844A>T | CA381702946 | DHCR7 | c.931T>A (p.Cys311Ser) c.757T>A (p.Cys253Ser) c.982T>A (p.Cys328Ser) c.967T>A (p.Cys323Ser) n.971T>A c.346T>A (p.Cys116Ser) c.835T>A (p.Cys279Ser) c.298T>A (p.Cys100Ser) c.181T>A (p.Cys61Ser) c.287T>A | |
| 11 | g.71437845G>A | CA475567294 | DHCR7 | c.930C>T (p.Asp310=) c.756C>T (p.Asp252=) c.981C>T (p.Asp327=) c.966C>T (p.Asp322=) n.970C>T c.345C>T (p.Asp115=) c.834C>T (p.Asp278=) c.297C>T (p.Asp99=) c.180C>T (p.Asp60=) c.286C>T | ClinVar |
| 11 | g.71437845G>C | CA381702947 | DHCR7 | c.930C>G (p.Asp310Glu) c.756C>G (p.Asp252Glu) c.981C>G (p.Asp327Glu) c.966C>G (p.Asp322Glu) n.970C>G c.345C>G (p.Asp115Glu) c.834C>G (p.Asp278Glu) c.297C>G (p.Asp99Glu) c.180C>G (p.Asp60Glu) c.286C>G | |
| 11 | g.71437845G>T | CA381702948 | DHCR7 | c.930C>A (p.Asp310Glu) c.756C>A (p.Asp252Glu) c.981C>A (p.Asp327Glu) c.966C>A (p.Asp322Glu) n.970C>A c.345C>A (p.Asp115Glu) c.834C>A (p.Asp278Glu) c.297C>A (p.Asp99Glu) c.180C>A (p.Asp60Glu) c.286C>A | |
| 11 | g.71437846T>A | CA381702949 | DHCR7 | c.929A>T (p.Asp310Val) c.755A>T (p.Asp252Val) c.980A>T (p.Asp327Val) c.965A>T (p.Asp322Val) n.969A>T c.344A>T (p.Asp115Val) c.833A>T (p.Asp278Val) c.296A>T (p.Asp99Val) c.179A>T (p.Asp60Val) c.285A>T | |
| 11 | g.71437846T>C | CA381702950 | DHCR7 | c.929A>G (p.Asp310Gly) c.755A>G (p.Asp252Gly) c.980A>G (p.Asp327Gly) c.965A>G (p.Asp322Gly) n.969A>G c.344A>G (p.Asp115Gly) c.833A>G (p.Asp278Gly) c.296A>G (p.Asp99Gly) c.179A>G (p.Asp60Gly) c.285A>G | |
| 11 | g.71437846T>G | CA381702951 | DHCR7 | c.929A>C (p.Asp310Ala) c.755A>C (p.Asp252Ala) c.980A>C (p.Asp327Ala) c.965A>C (p.Asp322Ala) n.969A>C c.344A>C (p.Asp115Ala) c.833A>C (p.Asp278Ala) c.296A>C (p.Asp99Ala) c.179A>C (p.Asp60Ala) c.285A>C | dbSNP gnomAD v4 |
| 11 | g.71437846T= | CA1981488016 | DHCR7 | c.929A= (p.Asp310=) c.755A= (p.Asp252=) c.980A= (p.Asp327=) c.965A= (p.Asp322=) n.969A= c.344A= (p.Asp115=) c.833A= (p.Asp278=) c.296A= (p.Asp99=) c.179A= (p.Asp60=) c.285A= | |
| 11 | g.71437847C>A | CA381702953 | DHCR7 | c.928G>T (p.Asp310Tyr) c.754G>T (p.Asp252Tyr) c.979G>T (p.Asp327Tyr) c.964G>T (p.Asp322Tyr) n.968G>T c.343G>T (p.Asp115Tyr) c.832G>T (p.Asp278Tyr) c.295G>T (p.Asp99Tyr) c.178G>T (p.Asp60Tyr) c.284G>T | |
| 11 | g.71437847C= | CA1981488017 | DHCR7 | c.928G= (p.Asp310=) c.754G= (p.Asp252=) c.979G= (p.Asp327=) c.964G= (p.Asp322=) n.968G= c.343G= (p.Asp115=) c.832G= (p.Asp278=) c.295G= (p.Asp99=) c.178G= (p.Asp60=) c.284G= | |
| 11 | g.71437847C>G | CA381702952 | DHCR7 | c.928G>C (p.Asp310His) c.754G>C (p.Asp252His) c.979G>C (p.Asp327His) c.964G>C (p.Asp322His) n.968G>C c.343G>C (p.Asp115His) c.832G>C (p.Asp278His) c.295G>C (p.Asp99His) c.178G>C (p.Asp60His) c.284G>C | ClinVar dbSNP |
| 11 | g.71437847C>T | CA6162401 | DHCR7 | c.928G>A (p.Asp310Asn) c.754G>A (p.Asp252Asn) c.979G>A (p.Asp327Asn) c.964G>A (p.Asp322Asn) n.968G>A c.343G>A (p.Asp115Asn) c.832G>A (p.Asp278Asn) c.295G>A (p.Asp99Asn) c.178G>A (p.Asp60Asn) c.284G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |