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.6291204G>A | CA2838912 | WFS1 | c.468G>A (p.Thr156=) c.458G>A c.219G>A (p.Thr73=) c.267G>A (p.Thr89=) c.342G>A (p.Thr114=) c.65G>A n.653G>A c.477G>A (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291204G>C | CA438210931 | WFS1 | c.468G>C (p.Thr156=) c.458G>C c.219G>C (p.Thr73=) c.267G>C (p.Thr89=) c.342G>C (p.Thr114=) c.65G>C n.653G>C c.477G>C (p.Thr159=) | |
| 4 | g.6291204G= | CA1435768567 | WFS1 | c.468G= (p.Thr156=) c.458G= c.219G= (p.Thr73=) c.267G= (p.Thr89=) c.342G= (p.Thr114=) c.65G= n.653G= c.477G= (p.Thr159=) | |
| 4 | g.6291204G>T | CA2838911 | WFS1 | c.468G>T (p.Thr156=) c.458G>T c.219G>T (p.Thr73=) c.267G>T (p.Thr89=) c.342G>T (p.Thr114=) c.65G>T n.653G>T c.477G>T (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291205T>A | CA356171843 | WFS1 | c.469T>A (p.Ser157Thr) c.459T>A c.220T>A (p.Ser74Thr) c.268T>A (p.Ser90Thr) c.343T>A (p.Ser115Thr) c.66T>A n.654T>A c.478T>A (p.Ser160Thr) | |
| 4 | g.6291205T>C | CA356171844 | WFS1 | c.469T>C (p.Ser157Pro) c.459T>C c.220T>C (p.Ser74Pro) c.268T>C (p.Ser90Pro) c.343T>C (p.Ser115Pro) c.66T>C n.654T>C c.478T>C (p.Ser160Pro) | |
| 4 | g.6291205T>G | CA356171845 | WFS1 | c.469T>G (p.Ser157Ala) c.459T>G c.220T>G (p.Ser74Ala) c.268T>G (p.Ser90Ala) c.343T>G (p.Ser115Ala) c.66T>G n.654T>G c.478T>G (p.Ser160Ala) | |
| 4 | g.6291206C>A | CA356171846 | WFS1 | c.470C>A (p.Ser157Tyr) c.460C>A c.221C>A (p.Ser74Tyr) c.269C>A (p.Ser90Tyr) c.344C>A (p.Ser115Tyr) c.67C>A n.655C>A c.479C>A (p.Ser160Tyr) | |
| 4 | g.6291206C>G | CA356171847 | WFS1 | c.470C>G (p.Ser157Cys) c.460C>G c.221C>G (p.Ser74Cys) c.269C>G (p.Ser90Cys) c.344C>G (p.Ser115Cys) c.67C>G n.655C>G c.479C>G (p.Ser160Cys) | |
| 4 | g.6291206C>T | CA356171848 | WFS1 | c.470C>T (p.Ser157Phe) c.460C>T c.221C>T (p.Ser74Phe) c.269C>T (p.Ser90Phe) c.344C>T (p.Ser115Phe) c.67C>T n.655C>T c.479C>T (p.Ser160Phe) | |
| 4 | g.6291207C>A | CA438210932 | WFS1 | c.471C>A (p.Ser157=) c.461C>A c.222C>A (p.Ser74=) c.270C>A (p.Ser90=) c.345C>A (p.Ser115=) c.68C>A n.656C>A c.480C>A (p.Ser160=) | |
| 4 | g.6291207C= | CA1435768568 | WFS1 | c.471C= (p.Ser157=) c.461C= c.222C= (p.Ser74=) c.270C= (p.Ser90=) c.345C= (p.Ser115=) c.68C= n.656C= c.480C= (p.Ser160=) | |
| 4 | g.6291207C>G | CA2838914 | WFS1 | c.471C>G (p.Ser157=) c.461C>G c.222C>G (p.Ser74=) c.270C>G (p.Ser90=) c.345C>G (p.Ser115=) c.68C>G n.656C>G c.480C>G (p.Ser160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291207C>T | CA2838913 | WFS1 | c.471C>T (p.Ser157=) c.461C>T c.222C>T (p.Ser74=) c.270C>T (p.Ser90=) c.345C>T (p.Ser115=) c.68C>T n.656C>T c.480C>T (p.Ser160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6291208G>A | CA2838915 | WFS1 | c.472G>A (p.Glu158Lys) c.462G>A c.223G>A (p.Glu75Lys) c.271G>A (p.Glu91Lys) c.346G>A (p.Glu116Lys) c.69G>A n.657G>A c.481G>A (p.Glu161Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291208G>C | CA356171849 | WFS1 | c.472G>C (p.Glu158Gln) c.462G>C c.223G>C (p.Glu75Gln) c.271G>C (p.Glu91Gln) c.346G>C (p.Glu116Gln) c.69G>C n.657G>C c.481G>C (p.Glu161Gln) | |
| 4 | g.6291208G= | CA1435768569 | WFS1 | c.472G= (p.Glu158=) c.462G= c.223G= (p.Glu75=) c.271G= (p.Glu91=) c.346G= (p.Glu116=) c.69G= n.657G= c.481G= (p.Glu161=) | |
| 4 | g.6291208G>T | CA356171850 | WFS1 | c.472G>T (p.Glu158Ter) c.462G>T c.223G>T (p.Glu75Ter) c.271G>T (p.Glu91Ter) c.346G>T (p.Glu116Ter) c.69G>T n.657G>T c.481G>T (p.Glu161Ter) | |
| 4 | g.6291209A>C | CA356171851 | WFS1 | c.473A>C (p.Glu158Ala) c.463A>C c.224A>C (p.Glu75Ala) c.272A>C (p.Glu91Ala) c.347A>C (p.Glu116Ala) c.70A>C n.658A>C c.482A>C (p.Glu161Ala) | |
| 4 | g.6291209A>G | CA356171852 | WFS1 | c.473A>G (p.Glu158Gly) c.463A>G c.224A>G (p.Glu75Gly) c.272A>G (p.Glu91Gly) c.347A>G (p.Glu116Gly) c.70A>G n.658A>G c.482A>G (p.Glu161Gly) | |
| 4 | g.6291209A>T | CA356171853 | WFS1 | c.473A>T (p.Glu158Val) c.463A>T c.224A>T (p.Glu75Val) c.272A>T (p.Glu91Val) c.347A>T (p.Glu116Val) c.70A>T n.658A>T c.482A>T (p.Glu161Val) | |
| 4 | g.6291210G>A | CA2838916 | WFS1 | c.474G>A (p.Glu158=) c.464G>A c.225G>A (p.Glu75=) c.273G>A (p.Glu91=) c.348G>A (p.Glu116=) c.71G>A n.659G>A c.483G>A (p.Glu161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291210G>C | CA356171854 | WFS1 | c.474G>C (p.Glu158Asp) c.464G>C c.225G>C (p.Glu75Asp) c.273G>C (p.Glu91Asp) c.348G>C (p.Glu116Asp) c.71G>C n.659G>C c.483G>C (p.Glu161Asp) | |
| 4 | g.6291210G= | CA1435768570 | WFS1 | c.474G= (p.Glu158=) c.464G= c.225G= (p.Glu75=) c.273G= (p.Glu91=) c.348G= (p.Glu116=) c.71G= n.659G= c.483G= (p.Glu161=) | |
| 4 | g.6291210G>T | CA356171855 | WFS1 | c.474G>T (p.Glu158Asp) c.464G>T c.225G>T (p.Glu75Asp) c.273G>T (p.Glu91Asp) c.348G>T (p.Glu116Asp) c.71G>T n.659G>T c.483G>T (p.Glu161Asp) | gnomAD v4 COSMIC |
| 4 | g.6291211A>C | CA356171856 | WFS1 | c.475A>C (p.Asn159His) c.465A>C c.226A>C (p.Asn76His) c.274A>C (p.Asn92His) c.349A>C (p.Asn117His) c.72A>C n.660A>C c.484A>C (p.Asn162His) | |
| 4 | g.6291211A>G | CA356171857 | WFS1 | c.475A>G (p.Asn159Asp) c.465A>G c.226A>G (p.Asn76Asp) c.274A>G (p.Asn92Asp) c.349A>G (p.Asn117Asp) c.72A>G n.660A>G c.484A>G (p.Asn162Asp) | |
| 4 | g.6291211A>T | CA356171858 | WFS1 | c.475A>T (p.Asn159Tyr) c.465A>T c.226A>T (p.Asn76Tyr) c.274A>T (p.Asn92Tyr) c.349A>T (p.Asn117Tyr) c.72A>T n.660A>T c.484A>T (p.Asn162Tyr) | |
| 4 | g.6291212A= | CA1435768571 | WFS1 | c.476A= (p.Asn159=) c.466A= c.227A= (p.Asn76=) c.275A= (p.Asn92=) c.350A= (p.Asn117=) c.73A= n.661A= c.485A= (p.Asn162=) | |
| 4 | g.6291212A>C | CA356171859 | WFS1 | c.476A>C (p.Asn159Thr) c.466A>C c.227A>C (p.Asn76Thr) c.275A>C (p.Asn92Thr) c.350A>C (p.Asn117Thr) c.73A>C n.661A>C c.485A>C (p.Asn162Thr) | |
| 4 | g.6291212A>G | CA2838917 | WFS1 | c.476A>G (p.Asn159Ser) c.466A>G c.227A>G (p.Asn76Ser) c.275A>G (p.Asn92Ser) c.350A>G (p.Asn117Ser) c.73A>G n.661A>G c.485A>G (p.Asn162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291212A>T | CA356171860 | WFS1 | c.476A>T (p.Asn159Ile) c.466A>T c.227A>T (p.Asn76Ile) c.275A>T (p.Asn92Ile) c.350A>T (p.Asn117Ile) c.73A>T n.661A>T c.485A>T (p.Asn162Ile) | |
| 4 | g.6291213C>A | CA356171861 | WFS1 | c.477C>A (p.Asn159Lys) c.467C>A c.228C>A (p.Asn76Lys) c.276C>A (p.Asn92Lys) c.351C>A (p.Asn117Lys) c.74C>A n.662C>A c.486C>A (p.Asn162Lys) | |
| 4 | g.6291213C= | CA1435768572 | WFS1 | c.477C= (p.Asn159=) c.467C= c.228C= (p.Asn76=) c.276C= (p.Asn92=) c.351C= (p.Asn117=) c.74C= n.662C= c.486C= (p.Asn162=) | |
| 4 | g.6291213C>G | CA356171862 | WFS1 | c.477C>G (p.Asn159Lys) c.467C>G c.228C>G (p.Asn76Lys) c.276C>G (p.Asn92Lys) c.351C>G (p.Asn117Lys) c.74C>G n.662C>G c.486C>G (p.Asn162Lys) | |
| 4 | g.6291213C>T | CA2838918 | WFS1 | c.477C>T (p.Asn159=) c.467C>T c.228C>T (p.Asn76=) c.276C>T (p.Asn92=) c.351C>T (p.Asn117=) c.74C>T n.662C>T c.486C>T (p.Asn162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6291214G>A | CA356171863 | WFS1 | c.478G>A (p.Glu160Lys) c.468G>A c.229G>A (p.Glu77Lys) c.277G>A (p.Glu93Lys) c.352G>A (p.Glu118Lys) c.75G>A n.663G>A c.487G>A (p.Glu163Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291214G>C | CA356171864 | WFS1 | c.478G>C (p.Glu160Gln) c.468G>C c.229G>C (p.Glu77Gln) c.277G>C (p.Glu93Gln) c.352G>C (p.Glu118Gln) c.75G>C n.663G>C c.487G>C (p.Glu163Gln) | |
| 4 | g.6291214G= | CA1435768573 | WFS1 | c.478G= (p.Glu160=) c.468G= c.229G= (p.Glu77=) c.277G= (p.Glu93=) c.352G= (p.Glu118=) c.75G= n.663G= c.487G= (p.Glu163=) | |
| 4 | g.6291214G>T | CA356171865 | WFS1 | c.478G>T (p.Glu160Ter) c.468G>T c.229G>T (p.Glu77Ter) c.277G>T (p.Glu93Ter) c.352G>T (p.Glu118Ter) c.75G>T n.663G>T c.487G>T (p.Glu163Ter) | gnomAD v4 |
| 4 | g.6291215A>C | CA356171866 | WFS1 | c.479A>C (p.Glu160Ala) c.469A>C c.230A>C (p.Glu77Ala) c.278A>C (p.Glu93Ala) c.353A>C (p.Glu118Ala) c.76A>C n.664A>C c.488A>C (p.Glu163Ala) | |
| 4 | g.6291215A>G | CA356171867 | WFS1 | c.479A>G (p.Glu160Gly) c.469A>G c.230A>G (p.Glu77Gly) c.278A>G (p.Glu93Gly) c.353A>G (p.Glu118Gly) c.76A>G n.664A>G c.488A>G (p.Glu163Gly) | gnomAD v4 |
| 4 | g.6291215A>T | CA356171868 | WFS1 | c.479A>T (p.Glu160Val) c.469A>T c.230A>T (p.Glu77Val) c.278A>T (p.Glu93Val) c.353A>T (p.Glu118Val) c.76A>T n.664A>T c.488A>T (p.Glu163Val) | dbSNP |
| 4 | g.6291216A= | CA1435768574 | WFS1 | c.480A= (p.Glu160=) c.470A= c.231A= (p.Glu77=) c.279A= (p.Glu93=) c.354A= (p.Glu118=) c.77A= n.665A= c.489A= (p.Glu163=) | |
| 4 | g.6291216A>C | CA356171869 | WFS1 | c.480A>C (p.Glu160Asp) c.470A>C c.231A>C (p.Glu77Asp) c.279A>C (p.Glu93Asp) c.354A>C (p.Glu118Asp) c.77A>C n.665A>C c.489A>C (p.Glu163Asp) | |
| 4 | g.6291216A>G | CA438210933 | WFS1 | c.480A>G (p.Glu160=) c.470A>G c.231A>G (p.Glu77=) c.279A>G (p.Glu93=) c.354A>G (p.Glu118=) c.77A>G n.665A>G c.489A>G (p.Glu163=) | dbSNP |
| 4 | g.6291216A>T | CA356171870 | WFS1 | c.480A>T (p.Glu160Asp) c.470A>T c.231A>T (p.Glu77Asp) c.279A>T (p.Glu93Asp) c.354A>T (p.Glu118Asp) c.77A>T n.665A>T c.489A>T (p.Glu163Asp) | |
| 4 | g.6291217C>A | CA438210934 | WFS1 | c.481C>A (p.Arg161=) c.471C>A c.232C>A (p.Arg78=) c.280C>A (p.Arg94=) c.355C>A (p.Arg119=) c.78C>A n.666C>A c.490C>A (p.Arg164=) | |
| 4 | g.6291217C= | CA1435768575 | WFS1 | c.481C= (p.Arg161=) c.471C= c.232C= (p.Arg78=) c.280C= (p.Arg94=) c.355C= (p.Arg119=) c.78C= n.666C= c.490C= (p.Arg164=) | |
| 4 | g.6291217C>G | CA356171871 | WFS1 | c.481C>G (p.Arg161Gly) c.471C>G c.232C>G (p.Arg78Gly) c.280C>G (p.Arg94Gly) c.355C>G (p.Arg119Gly) c.78C>G n.666C>G c.490C>G (p.Arg164Gly) | gnomAD v4 |