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.6291358A>C | CA356172163 | WFS1 | c.622A>C (p.Asn208His) c.608+4A>C c.373A>C (p.Asn125His) c.421A>C (p.Asn141His) c.219A>C n.807A>C c.631A>C (p.Asn211His) | |
| 4 | g.6291358A>G | CA356172164 | WFS1 | c.622A>G (p.Asn208Asp) c.608+4A>G c.373A>G (p.Asn125Asp) c.421A>G (p.Asn141Asp) c.219A>G n.807A>G c.631A>G (p.Asn211Asp) | COSMIC |
| 4 | g.6291358A>T | CA356172165 | WFS1 | c.622A>T (p.Asn208Tyr) c.608+4A>T c.373A>T (p.Asn125Tyr) c.421A>T (p.Asn141Tyr) c.219A>T n.807A>T c.631A>T (p.Asn211Tyr) | |
| 4 | g.6291359A= | CA1435768643 | WFS1 | c.623A= (p.Asn208=) c.608+5A= c.374A= (p.Asn125=) c.422A= (p.Asn141=) c.220A= n.808A= c.632A= (p.Asn211=) | |
| 4 | g.6291359A>C | CA2838952 | WFS1 | c.623A>C (p.Asn208Thr) c.608+5A>C c.374A>C (p.Asn125Thr) c.422A>C (p.Asn141Thr) c.220A>C n.808A>C c.632A>C (p.Asn211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291359A>G | CA356172167 | WFS1 | c.623A>G (p.Asn208Ser) c.608+5A>G c.374A>G (p.Asn125Ser) c.422A>G (p.Asn141Ser) c.220A>G n.808A>G c.632A>G (p.Asn211Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291359A>T | CA356172166 | WFS1 | c.623A>T (p.Asn208Ile) c.608+5A>T c.374A>T (p.Asn125Ile) c.422A>T (p.Asn141Ile) c.220A>T n.808A>T c.632A>T (p.Asn211Ile) | |
| 4 | g.6291360C>A | CA356172169 | WFS1 | c.624C>A (p.Asn208Lys) c.608+6C>A c.375C>A (p.Asn125Lys) c.423C>A (p.Asn141Lys) c.221C>A n.809C>A c.633C>A (p.Asn211Lys) | |
| 4 | g.6291360C= | CA1435768644 | WFS1 | c.624C= (p.Asn208=) c.608+6C= c.375C= (p.Asn125=) c.423C= (p.Asn141=) c.221C= n.809C= c.633C= (p.Asn211=) | |
| 4 | g.6291360C>G | CA356172168 | WFS1 | c.624C>G (p.Asn208Lys) c.608+6C>G c.375C>G (p.Asn125Lys) c.423C>G (p.Asn141Lys) c.221C>G n.809C>G c.633C>G (p.Asn211Lys) | |
| 4 | g.6291360C>T | CA2838953 | WFS1 | c.624C>T (p.Asn208=) c.608+6C>T c.375C>T (p.Asn125=) c.423C>T (p.Asn141=) c.221C>T n.809C>T c.633C>T (p.Asn211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291361G>A | CA2838954 | WFS1 | c.625G>A (p.Glu209Lys) c.608+7G>A c.376G>A (p.Glu126Lys) c.424G>A (p.Glu142Lys) c.222G>A n.810G>A c.634G>A (p.Glu212Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291361G>C | CA356172170 | WFS1 | c.625G>C (p.Glu209Gln) c.608+7G>C c.376G>C (p.Glu126Gln) c.424G>C (p.Glu142Gln) c.222G>C n.810G>C c.634G>C (p.Glu212Gln) | |
| 4 | g.6291361G= | CA1435768645 | WFS1 | c.625G= (p.Glu209=) c.608+7G= c.376G= (p.Glu126=) c.424G= (p.Glu142=) c.222G= n.810G= c.634G= (p.Glu212=) | |
| 4 | g.6291361G>T | CA356172171 | WFS1 | c.625G>T (p.Glu209Ter) c.608+7G>T c.376G>T (p.Glu126Ter) c.424G>T (p.Glu142Ter) c.222G>T n.810G>T c.634G>T (p.Glu212Ter) | gnomAD v4 |
| 4 | g.6291362A>C | CA356172172 | WFS1 | c.626A>C (p.Glu209Ala) c.608+8A>C c.377A>C (p.Glu126Ala) c.425A>C (p.Glu142Ala) c.223A>C n.811A>C c.635A>C (p.Glu212Ala) | |
| 4 | g.6291362A>G | CA356172173 | WFS1 | c.626A>G (p.Glu209Gly) c.608+8A>G c.377A>G (p.Glu126Gly) c.425A>G (p.Glu142Gly) c.223A>G n.811A>G c.635A>G (p.Glu212Gly) | |
| 4 | g.6291362A>T | CA356172174 | WFS1 | c.626A>T (p.Glu209Val) c.608+8A>T c.377A>T (p.Glu126Val) c.425A>T (p.Glu142Val) c.223A>T n.811A>T c.635A>T (p.Glu212Val) | |
| 4 | g.6291363G>A | CA438211021 | WFS1 | c.627G>A (p.Glu209=) c.608+9G>A c.378G>A (p.Glu126=) c.426G>A (p.Glu142=) c.224G>A n.812G>A c.636G>A (p.Glu212=) | gnomAD v4 |
| 4 | g.6291363G>C | CA356172175 | WFS1 | c.627G>C (p.Glu209Asp) c.608+9G>C c.378G>C (p.Glu126Asp) c.426G>C (p.Glu142Asp) c.224G>C n.812G>C c.636G>C (p.Glu212Asp) | |
| 4 | g.6291363G>T | CA356172176 | WFS1 | c.627G>T (p.Glu209Asp) c.608+9G>T c.378G>T (p.Glu126Asp) c.426G>T (p.Glu142Asp) c.224G>T n.812G>T c.636G>T (p.Glu212Asp) | |
| 4 | g.6291364C>A | CA356172177 | WFS1 | c.628C>A (p.His210Asn) c.608+10C>A c.379C>A (p.His127Asn) c.427C>A (p.His143Asn) c.225C>A n.813C>A c.637C>A (p.His213Asn) | |
| 4 | g.6291364C= | CA1435768646 | WFS1 | c.628C= (p.His210=) c.608+10C= c.379C= (p.His127=) c.427C= (p.His143=) c.225C= n.813C= c.637C= (p.His213=) | |
| 4 | g.6291364C>G | CA356172178 | WFS1 | c.628C>G (p.His210Asp) c.608+10C>G c.379C>G (p.His127Asp) c.427C>G (p.His143Asp) c.225C>G n.813C>G c.637C>G (p.His213Asp) | |
| 4 | g.6291364C>T | CA356172179 | WFS1 | c.628C>T (p.His210Tyr) c.608+10C>T c.379C>T (p.His127Tyr) c.427C>T (p.His143Tyr) c.225C>T n.813C>T c.637C>T (p.His213Tyr) | dbSNP |
| 4 | g.6291365A>C | CA356172182 | WFS1 | c.629A>C (p.His210Pro) c.608+11A>C c.380A>C (p.His127Pro) c.428A>C (p.His143Pro) c.226A>C n.814A>C c.638A>C (p.His213Pro) | |
| 4 | g.6291365A>G | CA356172180 | WFS1 | c.629A>G (p.His210Arg) c.608+11A>G c.380A>G (p.His127Arg) c.428A>G (p.His143Arg) c.226A>G n.814A>G c.638A>G (p.His213Arg) | |
| 4 | g.6291365A>T | CA356172181 | WFS1 | c.629A>T (p.His210Leu) c.608+11A>T c.380A>T (p.His127Leu) c.428A>T (p.His143Leu) c.226A>T n.814A>T c.638A>T (p.His213Leu) | |
| 4 | g.6291365dup | CA2669825957 | WFS1 | c.629dup (p.His210GlnfsTer?) c.608+11dup c.380dup (p.His127GlnfsTer?) c.428dup (p.His143GlnfsTer?) c.226dup n.814dup c.638dup (p.His213GlnfsTer?) | gnomAD v4 |
| 4 | g.6291366C>A | CA356172183 | WFS1 | c.630C>A (p.His210Gln) c.608+12C>A c.381C>A (p.His127Gln) c.429C>A (p.His143Gln) c.227C>A n.815C>A c.639C>A (p.His213Gln) | |
| 4 | g.6291366C= | CA1435768647 | WFS1 | c.630C= (p.His210=) c.608+12C= c.381C= (p.His127=) c.429C= (p.His143=) c.227C= n.815C= c.639C= (p.His213=) | |
| 4 | g.6291366C>G | CA356172184 | WFS1 | c.630C>G (p.His210Gln) c.608+12C>G c.381C>G (p.His127Gln) c.429C>G (p.His143Gln) c.227C>G n.815C>G c.639C>G (p.His213Gln) | |
| 4 | g.6291366C>T | CA2838955 | WFS1 | c.630C>T (p.His210=) c.608+12C>T c.381C>T (p.His127=) c.429C>T (p.His143=) c.227C>T n.815C>T c.639C>T (p.His213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291367G>A | CA320894 | WFS1 | c.631G>A (p.Asp211Asn) c.608+13G>A c.631G>A (p.Gly211Ser) c.382G>A (p.Asp128Asn) c.430G>A (p.Asp144Asn) c.228G>A n.816G>A c.640G>A (p.Asp214Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291367G>C | CA356172185 | WFS1 | c.631G>C (p.Asp211His) c.608+13G>C c.631G>C (p.Gly211Arg) c.382G>C (p.Asp128His) c.430G>C (p.Asp144His) c.228G>C n.816G>C c.640G>C (p.Asp214His) | gnomAD v4 |
| 4 | g.6291367G= | CA1435768648 | WFS1 | c.631G= (p.Asp211=) c.608+13G= c.631G= (p.Gly211=) c.382G= (p.Asp128=) c.430G= (p.Asp144=) c.228G= n.816G= c.640G= (p.Asp214=) | |
| 4 | g.6291367G>T | CA356172186 | WFS1 | c.631G>T (p.Asp211Tyr) c.608+13G>T c.631G>T (p.Gly211Cys) c.382G>T (p.Asp128Tyr) c.430G>T (p.Asp144Tyr) c.228G>T n.816G>T c.640G>T (p.Asp214Tyr) | |
| 4 | g.6291368del | CA2586973596 | WFS1 | c.631+1del c.608+14del c.632del (p.Gly211ValfsTer?) c.382+1del c.430+1del c.228+1del n.816+1del c.640+1del | |
| 4 | g.6291368G>A | CA356172187 | WFS1 | c.631+1G>A (n.631+1G>A) c.608+14G>A c.632G>A (p.Gly211Asp) c.382+1G>A (n.382+1G>A) c.430+1G>A (n.430+1G>A) c.228+1G>A n.816+1G>A c.640+1G>A (n.640+1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291368G>C | CA356172188 | WFS1 | c.631+1G>C (n.631+1G>C) c.608+14G>C c.632G>C (p.Gly211Ala) c.382+1G>C (n.382+1G>C) c.430+1G>C (n.430+1G>C) c.228+1G>C n.816+1G>C c.640+1G>C (n.640+1G>C) | |
| 4 | g.6291368G= | CA1435768649 | WFS1 | c.631+1G= (n.631+1G=) c.608+14G= c.632G= (p.Gly211=) c.382+1G= (n.382+1G=) c.430+1G= (n.430+1G=) c.228+1G= n.816+1G= c.640+1G= (n.640+1G=) | |
| 4 | g.6291368G>T | CA356172189 | WFS1 | c.631+1G>T (n.631+1G>T) c.608+14G>T c.632G>T (p.Gly211Val) c.382+1G>T (n.382+1G>T) c.430+1G>T (n.430+1G>T) c.228+1G>T n.816+1G>T c.640+1G>T (n.640+1G>T) | |
| 4 | g.6291369T>A | CA356172190 | WFS1 | c.631+2T>A (n.631+2T>A) c.608+15T>A c.633T>A (p.Gly211=) c.382+2T>A (n.382+2T>A) c.430+2T>A (n.430+2T>A) c.228+2T>A n.816+2T>A c.640+2T>A (n.640+2T>A) | |
| 4 | g.6291369T>C | CA356172191 | WFS1 | c.631+2T>C (n.631+2T>C) c.608+15T>C c.633T>C (p.Gly211=) c.382+2T>C (n.382+2T>C) c.430+2T>C (n.430+2T>C) c.228+2T>C n.816+2T>C c.640+2T>C (n.640+2T>C) | gnomAD v4 |
| 4 | g.6291369T>G | CA91794582 | WFS1 | c.631+2T>G (n.631+2T>G) c.608+15T>G c.633T>G (p.Gly211=) c.382+2T>G (n.382+2T>G) c.430+2T>G (n.430+2T>G) c.228+2T>G n.816+2T>G c.640+2T>G (n.640+2T>G) | ClinVar dbSNP |
| 4 | g.6291369T= | CA1435768650 | WFS1 | c.631+2T= (n.631+2T=) c.608+15T= c.633T= (p.Gly211=) c.382+2T= (n.382+2T=) c.430+2T= (n.430+2T=) c.228+2T= n.816+2T= c.640+2T= (n.640+2T=) | |
| 4 | g.6291370G>A | CA2838956 | WFS1 | c.631+3G>A (n.631+3G>A) c.608+16G>A c.634G>A (p.Ala212Thr) c.382+3G>A (n.382+3G>A) c.430+3G>A (n.430+3G>A) c.228+3G>A n.816+3G>A c.640+3G>A (n.640+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291370G= | CA1435768651 | WFS1 | c.631+3G= (n.631+3G=) c.608+16G= c.634G= (p.Ala212=) c.382+3G= (n.382+3G=) c.430+3G= (n.430+3G=) c.228+3G= n.816+3G= c.640+3G= (n.640+3G=) | |
| 4 | g.6291371C= | CA1435768652 | WFS1 | c.631+4C= (n.631+4C=) c.608+17C= c.635C= (p.Ala212=) c.382+4C= (n.382+4C=) c.430+4C= (n.430+4C=) c.228+4C= n.816+4C= c.640+4C= (n.640+4C=) | |
| 4 | g.6291371C>G | CA2838958 | WFS1 | c.631+4C>G (n.631+4C>G) c.608+17C>G c.635C>G (p.Ala212Gly) c.382+4C>G (n.382+4C>G) c.430+4C>G (n.430+4C>G) c.228+4C>G n.816+4C>G c.640+4C>G (n.640+4C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |