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.6291339G>A | CA438211008 | WFS1 | c.603G>A (p.Leu201=) c.593G>A c.354G>A (p.Leu118=) c.402G>A (p.Leu134=) c.200G>A n.788G>A c.612G>A (p.Leu204=) | COSMIC |
| 4 | g.6291339G>C | CA438211009 | WFS1 | c.603G>C (p.Leu201=) c.593G>C c.354G>C (p.Leu118=) c.402G>C (p.Leu134=) c.200G>C n.788G>C c.612G>C (p.Leu204=) | gnomAD v4 |
| 4 | g.6291339G>T | CA438211010 | WFS1 | c.603G>T (p.Leu201=) c.593G>T c.354G>T (p.Leu118=) c.402G>T (p.Leu134=) c.200G>T n.788G>T c.612G>T (p.Leu204=) | |
| 4 | g.6291340G>A | CA2838948 | WFS1 | c.604G>A (p.Glu202Lys) c.594G>A c.355G>A (p.Glu119Lys) c.403G>A (p.Glu135Lys) c.201G>A n.789G>A c.613G>A (p.Glu205Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291340G>C | CA356172125 | WFS1 | c.604G>C (p.Glu202Gln) c.594G>C c.355G>C (p.Glu119Gln) c.403G>C (p.Glu135Gln) c.201G>C n.789G>C c.613G>C (p.Glu205Gln) | ClinVar |
| 4 | g.6291340G= | CA1435768631 | WFS1 | c.604G= (p.Glu202=) c.594G= c.355G= (p.Glu119=) c.403G= (p.Glu135=) c.201G= n.789G= c.613G= (p.Glu205=) | |
| 4 | g.6291340G>T | CA356172126 | WFS1 | c.604G>T (p.Glu202Ter) c.594G>T c.355G>T (p.Glu119Ter) c.403G>T (p.Glu135Ter) c.201G>T n.789G>T c.613G>T (p.Glu205Ter) | |
| 4 | g.6291341A= | CA1435768632 | WFS1 | c.605A= (p.Glu202=) c.595A= c.356A= (p.Glu119=) c.404A= (p.Glu135=) c.202A= n.790A= c.614A= (p.Glu205=) | |
| 4 | g.6291341A>C | CA356172128 | WFS1 | c.605A>C (p.Glu202Ala) c.595A>C c.356A>C (p.Glu119Ala) c.404A>C (p.Glu135Ala) c.202A>C n.790A>C c.614A>C (p.Glu205Ala) | |
| 4 | g.6291341A>G | CA16618051 | WFS1 | c.605A>G (p.Glu202Gly) c.595A>G c.356A>G (p.Glu119Gly) c.404A>G (p.Glu135Gly) c.202A>G n.790A>G c.614A>G (p.Glu205Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291341A>T | CA356172127 | WFS1 | c.605A>T (p.Glu202Val) c.595A>T c.356A>T (p.Glu119Val) c.404A>T (p.Glu135Val) c.202A>T n.790A>T c.614A>T (p.Glu205Val) | |
| 4 | g.6291342G>A | CA438211011 | WFS1 | c.606G>A (p.Glu202=) c.596G>A c.357G>A (p.Glu119=) c.405G>A (p.Glu135=) c.203G>A n.791G>A c.615G>A (p.Glu205=) | dbSNP |
| 4 | g.6291342G>C | CA356172129 | WFS1 | c.606G>C (p.Glu202Asp) c.596G>C c.357G>C (p.Glu119Asp) c.405G>C (p.Glu135Asp) c.203G>C n.791G>C c.615G>C (p.Glu205Asp) | |
| 4 | g.6291342G>T | CA356172130 | WFS1 | c.606G>T (p.Glu202Asp) c.596G>T c.357G>T (p.Glu119Asp) c.405G>T (p.Glu135Asp) c.203G>T n.791G>T c.615G>T (p.Glu205Asp) | |
| 4 | g.6291343A>C | CA356172131 | WFS1 | c.607A>C (p.Asn203His) c.597A>C c.358A>C (p.Asn120His) c.406A>C (p.Asn136His) c.204A>C n.792A>C c.616A>C (p.Asn206His) | |
| 4 | g.6291343A>G | CA356172132 | WFS1 | c.607A>G (p.Asn203Asp) c.597A>G c.358A>G (p.Asn120Asp) c.406A>G (p.Asn136Asp) c.204A>G n.792A>G c.616A>G (p.Asn206Asp) | gnomAD v4 |
| 4 | g.6291343A>T | CA356172133 | WFS1 | c.607A>T (p.Asn203Tyr) c.597A>T c.358A>T (p.Asn120Tyr) c.406A>T (p.Asn136Tyr) c.204A>T n.792A>T c.616A>T (p.Asn206Tyr) | |
| 4 | g.6291344A= | CA1435768633 | WFS1 | c.608A= (p.Asn203=) c.598A= c.359A= (p.Asn120=) c.407A= (p.Asn136=) c.205A= n.793A= c.617A= (p.Asn206=) | |
| 4 | g.6291344A>C | CA356172134 | WFS1 | c.608A>C (p.Asn203Thr) c.598A>C c.359A>C (p.Asn120Thr) c.407A>C (p.Asn136Thr) c.205A>C n.793A>C c.617A>C (p.Asn206Thr) | |
| 4 | g.6291344A>G | CA91794580 | WFS1 | c.608A>G (p.Asn203Ser) c.598A>G c.359A>G (p.Asn120Ser) c.407A>G (p.Asn136Ser) c.205A>G n.793A>G c.617A>G (p.Asn206Ser) | dbSNP |
| 4 | g.6291344A>T | CA356172135 | WFS1 | c.608A>T (p.Asn203Ile) c.598A>T c.359A>T (p.Asn120Ile) c.407A>T (p.Asn136Ile) c.205A>T n.793A>T c.617A>T (p.Asn206Ile) | |
| 4 | g.6291345T>A | CA356172136 | WFS1 | c.609T>A (p.Asn203Lys) c.599T>A c.360T>A (p.Asn120Lys) c.408T>A (p.Asn136Lys) c.206T>A n.794T>A c.618T>A (p.Asn206Lys) | gnomAD v4 |
| 4 | g.6291345T>C | CA2838949 | WFS1 | c.609T>C (p.Asn203=) c.599T>C c.360T>C (p.Asn120=) c.408T>C (p.Asn136=) c.206T>C n.794T>C c.618T>C (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291345T>G | CA356172137 | WFS1 | c.609T>G (p.Asn203Lys) c.599T>G c.360T>G (p.Asn120Lys) c.408T>G (p.Asn136Lys) c.206T>G n.794T>G c.618T>G (p.Asn206Lys) | |
| 4 | g.6291345T= | CA1435768634 | WFS1 | c.609T= (p.Asn203=) c.599T= c.360T= (p.Asn120=) c.408T= (p.Asn136=) c.206T= n.794T= c.618T= (p.Asn206=) | |
| 4 | g.6291346G>A | CA356172140 | WFS1 | c.610G>A (p.Val204Ile) c.600G>A c.361G>A (p.Val121Ile) c.409G>A (p.Val137Ile) c.207G>A n.795G>A c.619G>A (p.Val207Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291346G>C | CA356172139 | WFS1 | c.610G>C (p.Val204Leu) c.600G>C c.361G>C (p.Val121Leu) c.409G>C (p.Val137Leu) c.207G>C n.795G>C c.619G>C (p.Val207Leu) | |
| 4 | g.6291346G= | CA1435768635 | WFS1 | c.610G= (p.Val204=) c.600G= c.361G= (p.Val121=) c.409G= (p.Val137=) c.207G= n.795G= c.619G= (p.Val207=) | |
| 4 | g.6291346G>T | CA356172138 | WFS1 | c.610G>T (p.Val204Phe) c.600G>T c.361G>T (p.Val121Phe) c.409G>T (p.Val137Phe) c.207G>T n.795G>T c.619G>T (p.Val207Phe) | |
| 4 | g.6291347T>A | CA356172141 | WFS1 | c.611T>A (p.Val204Asp) c.601T>A c.362T>A (p.Val121Asp) c.410T>A (p.Val137Asp) c.208T>A n.796T>A c.620T>A (p.Val207Asp) | |
| 4 | g.6291347T>C | CA356172142 | WFS1 | c.611T>C (p.Val204Ala) c.601T>C c.362T>C (p.Val121Ala) c.410T>C (p.Val137Ala) c.208T>C n.796T>C c.620T>C (p.Val207Ala) | |
| 4 | g.6291347T>G | CA356172143 | WFS1 | c.611T>G (p.Val204Gly) c.601T>G c.362T>G (p.Val121Gly) c.410T>G (p.Val137Gly) c.208T>G n.796T>G c.620T>G (p.Val207Gly) | |
| 4 | g.6291348C>A | CA438211012 | WFS1 | c.612C>A (p.Val204=) c.602C>A c.363C>A (p.Val121=) c.411C>A (p.Val137=) c.209C>A n.797C>A c.621C>A (p.Val207=) | |
| 4 | g.6291348C= | CA1435768636 | WFS1 | c.612C= (p.Val204=) c.602C= c.363C= (p.Val121=) c.411C= (p.Val137=) c.209C= n.797C= c.621C= (p.Val207=) | |
| 4 | g.6291348C>G | CA438211013 | WFS1 | c.612C>G (p.Val204=) c.602C>G c.363C>G (p.Val121=) c.411C>G (p.Val137=) c.209C>G n.797C>G c.621C>G (p.Val207=) | |
| 4 | g.6291348C>T | CA2838950 | WFS1 | c.612C>T (p.Val204=) c.602C>T c.363C>T (p.Val121=) c.411C>T (p.Val137=) c.209C>T n.797C>T c.621C>T (p.Val207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291349G>A | CA2838951 | WFS1 | c.613G>A (p.Gly205Ser) c.603G>A c.364G>A (p.Gly122Ser) c.412G>A (p.Gly138Ser) c.210G>A n.798G>A c.622G>A (p.Gly208Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291349G>C | CA356172144 | WFS1 | c.613G>C (p.Gly205Arg) c.603G>C c.364G>C (p.Gly122Arg) c.412G>C (p.Gly138Arg) c.210G>C n.798G>C c.622G>C (p.Gly208Arg) | |
| 4 | g.6291349G= | CA1435768637 | WFS1 | c.613G= (p.Gly205=) c.603G= c.364G= (p.Gly122=) c.412G= (p.Gly138=) c.210G= n.798G= c.622G= (p.Gly208=) | |
| 4 | g.6291349G>T | CA356172145 | WFS1 | c.613G>T (p.Gly205Cys) c.603G>T c.364G>T (p.Gly122Cys) c.412G>T (p.Gly138Cys) c.210G>T n.798G>T c.622G>T (p.Gly208Cys) | gnomAD v4 |
| 4 | g.6291350G>A | CA356172146 | WFS1 | c.614G>A (p.Gly205Asp) c.604G>A c.365G>A (p.Gly122Asp) c.413G>A (p.Gly138Asp) c.211G>A n.799G>A c.623G>A (p.Gly208Asp) | dbSNP gnomAD v4 |
| 4 | g.6291350G>C | CA356172147 | WFS1 | c.614G>C (p.Gly205Ala) c.604G>C c.365G>C (p.Gly122Ala) c.413G>C (p.Gly138Ala) c.211G>C n.799G>C c.623G>C (p.Gly208Ala) | |
| 4 | g.6291350G= | CA1435768638 | WFS1 | c.614G= (p.Gly205=) c.604G= c.365G= (p.Gly122=) c.413G= (p.Gly138=) c.211G= n.799G= c.623G= (p.Gly208=) | |
| 4 | g.6291350G>T | CA356172148 | WFS1 | c.614G>T (p.Gly205Val) c.604G>T c.365G>T (p.Gly122Val) c.413G>T (p.Gly138Val) c.211G>T n.799G>T c.623G>T (p.Gly208Val) | dbSNP gnomAD v4 |
| 4 | g.6291351C>A | CA438211015 | WFS1 | c.615C>A (p.Gly205=) c.605C>A c.366C>A (p.Gly122=) c.414C>A (p.Gly138=) c.212C>A n.800C>A c.624C>A (p.Gly208=) | |
| 4 | g.6291351C= | CA1435768639 | WFS1 | c.615C= (p.Gly205=) c.605C= c.366C= (p.Gly122=) c.414C= (p.Gly138=) c.212C= n.800C= c.624C= (p.Gly208=) | |
| 4 | g.6291351C>G | CA438211014 | WFS1 | c.615C>G (p.Gly205=) c.605C>G c.366C>G (p.Gly122=) c.414C>G (p.Gly138=) c.212C>G n.800C>G c.624C>G (p.Gly208=) | ClinVar dbSNP |
| 4 | g.6291351C>T | CA91794581 | WFS1 | c.615C>T (p.Gly205=) c.605C>T c.366C>T (p.Gly122=) c.414C>T (p.Gly138=) c.212C>T n.800C>T c.624C>T (p.Gly208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6291352C>A | CA356172149 | WFS1 | c.616C>A (p.Gln206Lys) c.606C>A c.367C>A (p.Gln123Lys) c.415C>A (p.Gln139Lys) c.213C>A n.801C>A c.625C>A (p.Gln209Lys) | |
| 4 | g.6291352C>G | CA356172150 | WFS1 | c.616C>G (p.Gln206Glu) c.606C>G c.367C>G (p.Gln123Glu) c.415C>G (p.Gln139Glu) c.213C>G n.801C>G c.625C>G (p.Gln209Glu) |