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 |
|---|---|---|---|---|---|
| 4 | g.6291319G>A | CA356172086 | WFS1 | c.583G>A (p.Val195Met) c.573G>A c.334G>A (p.Val112Met) c.382G>A (p.Val128Met) c.180G>A n.768G>A c.592G>A (p.Val198Met) | dbSNP |
| 4 | g.6291319G>C | CA356172087 | WFS1 | c.583G>C (p.Val195Leu) c.573G>C c.334G>C (p.Val112Leu) c.382G>C (p.Val128Leu) c.180G>C n.768G>C c.592G>C (p.Val198Leu) | |
| 4 | g.6291319G= | CA1435768623 | WFS1 | c.583G= (p.Val195=) c.573G= c.334G= (p.Val112=) c.382G= (p.Val128=) c.180G= n.768G= c.592G= (p.Val198=) | |
| 4 | g.6291319G>T | CA356172088 | WFS1 | c.583G>T (p.Val195Leu) c.573G>T c.334G>T (p.Val112Leu) c.382G>T (p.Val128Leu) c.180G>T n.768G>T c.592G>T (p.Val198Leu) | |
| 4 | g.6291320T>A | CA356172089 | WFS1 | c.584T>A (p.Val195Glu) c.574T>A c.335T>A (p.Val112Glu) c.383T>A (p.Val128Glu) c.181T>A n.769T>A c.593T>A (p.Val198Glu) | |
| 4 | g.6291320T>C | CA356172090 | WFS1 | c.584T>C (p.Val195Ala) c.574T>C c.335T>C (p.Val112Ala) c.383T>C (p.Val128Ala) c.181T>C n.769T>C c.593T>C (p.Val198Ala) | gnomAD v4 |
| 4 | g.6291320T>G | CA356172091 | WFS1 | c.584T>G (p.Val195Gly) c.574T>G c.335T>G (p.Val112Gly) c.383T>G (p.Val128Gly) c.181T>G n.769T>G c.593T>G (p.Val198Gly) | |
| 4 | g.6291321G>A | CA438210993 | WFS1 | c.585G>A (p.Val195=) c.575G>A c.336G>A (p.Val112=) c.384G>A (p.Val128=) c.182G>A n.770G>A c.594G>A (p.Val198=) | |
| 4 | g.6291321G>C | CA438210994 | WFS1 | c.585G>C (p.Val195=) c.575G>C c.336G>C (p.Val112=) c.384G>C (p.Val128=) c.182G>C n.770G>C c.594G>C (p.Val198=) | |
| 4 | g.6291321G>T | CA438210995 | WFS1 | c.585G>T (p.Val195=) c.575G>T c.336G>T (p.Val112=) c.384G>T (p.Val128=) c.182G>T n.770G>T c.594G>T (p.Val198=) | gnomAD v4 |
| 4 | g.6291322G>A | CA356172092 | WFS1 | c.586G>A (p.Ala196Thr) c.576G>A c.337G>A (p.Ala113Thr) c.385G>A (p.Ala129Thr) c.183G>A n.771G>A c.595G>A (p.Ala199Thr) | gnomAD v4 |
| 4 | g.6291322G>C | CA356172093 | WFS1 | c.586G>C (p.Ala196Pro) c.576G>C c.337G>C (p.Ala113Pro) c.385G>C (p.Ala129Pro) c.183G>C n.771G>C c.595G>C (p.Ala199Pro) | |
| 4 | g.6291322G>T | CA356172094 | WFS1 | c.586G>T (p.Ala196Ser) c.576G>T c.337G>T (p.Ala113Ser) c.385G>T (p.Ala129Ser) c.183G>T n.771G>T c.595G>T (p.Ala199Ser) | |
| 4 | g.6291323C>A | CA356172097 | WFS1 | c.587C>A (p.Ala196Asp) c.577C>A c.338C>A (p.Ala113Asp) c.386C>A (p.Ala129Asp) c.184C>A n.772C>A c.596C>A (p.Ala199Asp) | |
| 4 | g.6291323C>G | CA356172096 | WFS1 | c.587C>G (p.Ala196Gly) c.577C>G c.338C>G (p.Ala113Gly) c.386C>G (p.Ala129Gly) c.184C>G n.772C>G c.596C>G (p.Ala199Gly) | |
| 4 | g.6291323C>T | CA356172095 | WFS1 | c.587C>T (p.Ala196Val) c.577C>T c.338C>T (p.Ala113Val) c.386C>T (p.Ala129Val) c.184C>T n.772C>T c.596C>T (p.Ala199Val) | COSMIC |
| 4 | g.6291324C>A | CA438210996 | WFS1 | c.588C>A (p.Ala196=) c.578C>A c.339C>A (p.Ala113=) c.387C>A (p.Ala129=) c.185C>A n.773C>A c.597C>A (p.Ala199=) | gnomAD v4 |
| 4 | g.6291324C= | CA1435768624 | WFS1 | c.588C= (p.Ala196=) c.578C= c.339C= (p.Ala113=) c.387C= (p.Ala129=) c.185C= n.773C= c.597C= (p.Ala199=) | |
| 4 | g.6291324C>G | CA438210997 | WFS1 | c.588C>G (p.Ala196=) c.578C>G c.339C>G (p.Ala113=) c.387C>G (p.Ala129=) c.185C>G n.773C>G c.597C>G (p.Ala199=) | |
| 4 | g.6291324C>T | CA2838944 | WFS1 | c.588C>T (p.Ala196=) c.578C>T c.339C>T (p.Ala113=) c.387C>T (p.Ala129=) c.185C>T n.773C>T c.597C>T (p.Ala199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291325G>A | CA356172098 | WFS1 | c.589G>A (p.Val197Met) c.579G>A c.340G>A (p.Val114Met) c.388G>A (p.Val130Met) c.186G>A n.774G>A c.598G>A (p.Val200Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6291325G>C | CA356172099 | WFS1 | c.589G>C (p.Val197Leu) c.579G>C c.340G>C (p.Val114Leu) c.388G>C (p.Val130Leu) c.186G>C n.774G>C c.598G>C (p.Val200Leu) | |
| 4 | g.6291325G= | CA1435768625 | WFS1 | c.589G= (p.Val197=) c.579G= c.340G= (p.Val114=) c.388G= (p.Val130=) c.186G= n.774G= c.598G= (p.Val200=) | |
| 4 | g.6291325G>T | CA356172100 | WFS1 | c.589G>T (p.Val197Leu) c.579G>T c.340G>T (p.Val114Leu) c.388G>T (p.Val130Leu) c.186G>T n.774G>T c.598G>T (p.Val200Leu) | |
| 4 | g.6291326T>A | CA356172101 | WFS1 | c.590T>A (p.Val197Glu) c.580T>A c.341T>A (p.Val114Glu) c.389T>A (p.Val130Glu) c.187T>A n.775T>A c.599T>A (p.Val200Glu) | |
| 4 | g.6291326T>C | CA356172102 | WFS1 | c.590T>C (p.Val197Ala) c.580T>C c.341T>C (p.Val114Ala) c.389T>C (p.Val130Ala) c.187T>C n.775T>C c.599T>C (p.Val200Ala) | |
| 4 | g.6291326T>G | CA356172103 | WFS1 | c.590T>G (p.Val197Gly) c.580T>G c.341T>G (p.Val114Gly) c.389T>G (p.Val130Gly) c.187T>G n.775T>G c.599T>G (p.Val200Gly) | |
| 4 | g.6291327G>A | CA91794578 | WFS1 | c.591G>A (p.Val197=) c.581G>A c.342G>A (p.Val114=) c.390G>A (p.Val130=) c.188G>A n.776G>A c.600G>A (p.Val200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291327G>C | CA438210998 | WFS1 | c.591G>C (p.Val197=) c.581G>C c.342G>C (p.Val114=) c.390G>C (p.Val130=) c.188G>C n.776G>C c.600G>C (p.Val200=) | |
| 4 | g.6291327G= | CA1435768626 | WFS1 | c.591G= (p.Val197=) c.581G= c.342G= (p.Val114=) c.390G= (p.Val130=) c.188G= n.776G= c.600G= (p.Val200=) | |
| 4 | g.6291327G>T | CA438210999 | WFS1 | c.591G>T (p.Val197=) c.581G>T c.342G>T (p.Val114=) c.390G>T (p.Val130=) c.188G>T n.776G>T c.600G>T (p.Val200=) | |
| 4 | g.6291328G>A | CA356172104 | WFS1 | c.592G>A (p.Ala198Thr) c.582G>A c.343G>A (p.Ala115Thr) c.391G>A (p.Ala131Thr) c.189G>A n.777G>A c.601G>A (p.Ala201Thr) | gnomAD v4 |
| 4 | g.6291328G>C | CA356172105 | WFS1 | c.592G>C (p.Ala198Pro) c.582G>C c.343G>C (p.Ala115Pro) c.391G>C (p.Ala131Pro) c.189G>C n.777G>C c.601G>C (p.Ala201Pro) | |
| 4 | g.6291328G>T | CA356172106 | WFS1 | c.592G>T (p.Ala198Ser) c.582G>T c.343G>T (p.Ala115Ser) c.391G>T (p.Ala131Ser) c.189G>T n.777G>T c.601G>T (p.Ala201Ser) | gnomAD v3 gnomAD v4 |
| 4 | g.6291329C>A | CA356172107 | WFS1 | c.593C>A (p.Ala198Glu) c.583C>A c.344C>A (p.Ala115Glu) c.392C>A (p.Ala131Glu) c.190C>A n.778C>A c.602C>A (p.Ala201Glu) | |
| 4 | g.6291329C= | CA1435768627 | WFS1 | c.593C= (p.Ala198=) c.583C= c.344C= (p.Ala115=) c.392C= (p.Ala131=) c.190C= n.778C= c.602C= (p.Ala201=) | |
| 4 | g.6291329C>G | CA356172108 | WFS1 | c.593C>G (p.Ala198Gly) c.583C>G c.344C>G (p.Ala115Gly) c.392C>G (p.Ala131Gly) c.190C>G n.778C>G c.602C>G (p.Ala201Gly) | |
| 4 | g.6291329C>T | CA91794579 | WFS1 | c.593C>T (p.Ala198Val) c.583C>T c.344C>T (p.Ala115Val) c.392C>T (p.Ala131Val) c.190C>T n.778C>T c.602C>T (p.Ala201Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291330G>A | CA2838945 | WFS1 | c.594G>A (p.Ala198=) c.584G>A c.345G>A (p.Ala115=) c.393G>A (p.Ala131=) c.191G>A n.779G>A c.603G>A (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291330G>C | CA438211000 | WFS1 | c.594G>C (p.Ala198=) c.584G>C c.345G>C (p.Ala115=) c.393G>C (p.Ala131=) c.191G>C n.779G>C c.603G>C (p.Ala201=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291330G= | CA1435768628 | WFS1 | c.594G= (p.Ala198=) c.584G= c.345G= (p.Ala115=) c.393G= (p.Ala131=) c.191G= n.779G= c.603G= (p.Ala201=) | |
| 4 | g.6291330G>T | CA438211001 | WFS1 | c.594G>T (p.Ala198=) c.584G>T c.345G>T (p.Ala115=) c.393G>T (p.Ala131=) c.191G>T n.779G>T c.603G>T (p.Ala201=) | |
| 4 | g.6291331G>A | CA356172109 | WFS1 | c.595G>A (p.Glu199Lys) c.585G>A c.346G>A (p.Glu116Lys) c.394G>A (p.Glu132Lys) c.192G>A n.780G>A c.604G>A (p.Glu202Lys) | |
| 4 | g.6291331G>C | CA2838946 | WFS1 | c.595G>C (p.Glu199Gln) c.585G>C c.346G>C (p.Glu116Gln) c.394G>C (p.Glu132Gln) c.192G>C n.780G>C c.604G>C (p.Glu202Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291331G= | CA1435768629 | WFS1 | c.595G= (p.Glu199=) c.585G= c.346G= (p.Glu116=) c.394G= (p.Glu132=) c.192G= n.780G= c.604G= (p.Glu202=) | |
| 4 | g.6291331G>T | CA356172110 | WFS1 | c.595G>T (p.Glu199Ter) c.585G>T c.346G>T (p.Glu116Ter) c.394G>T (p.Glu132Ter) c.192G>T n.780G>T c.604G>T (p.Glu202Ter) | |
| 4 | g.6291332A>C | CA356172111 | WFS1 | c.596A>C (p.Glu199Ala) c.586A>C c.347A>C (p.Glu116Ala) c.395A>C (p.Glu132Ala) c.193A>C n.781A>C c.605A>C (p.Glu202Ala) | |
| 4 | g.6291332A>G | CA356172113 | WFS1 | c.596A>G (p.Glu199Gly) c.586A>G c.347A>G (p.Glu116Gly) c.395A>G (p.Glu132Gly) c.193A>G n.781A>G c.605A>G (p.Glu202Gly) | ClinVar |
| 4 | g.6291332A>T | CA356172112 | WFS1 | c.596A>T (p.Glu199Val) c.586A>T c.347A>T (p.Glu116Val) c.395A>T (p.Glu132Val) c.193A>T n.781A>T c.605A>T (p.Glu202Val) | |
| 4 | g.6291333G>A | CA438211002 | WFS1 | c.597G>A (p.Glu199=) c.587G>A c.348G>A (p.Glu116=) c.396G>A (p.Glu132=) c.194G>A n.782G>A c.606G>A (p.Glu202=) |