| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291228G>A | CA438210943 | WFS1 | c.492G>A (p.Arg164=) c.482G>A c.243G>A (p.Arg81=) c.291G>A (p.Arg97=) c.366G>A (p.Arg122=) c.89G>A n.677G>A c.501G>A (p.Arg167=) | |
| 4 | g.6291228G>C | CA356171893 | WFS1 | c.492G>C (p.Arg164Ser) c.482G>C c.243G>C (p.Arg81Ser) c.291G>C (p.Arg97Ser) c.366G>C (p.Arg122Ser) c.89G>C n.677G>C c.501G>C (p.Arg167Ser) | |
| 4 | g.6291228G>T | CA356171894 | WFS1 | c.492G>T (p.Arg164Ser) c.482G>T c.243G>T (p.Arg81Ser) c.291G>T (p.Arg97Ser) c.366G>T (p.Arg122Ser) c.89G>T n.677G>T c.501G>T (p.Arg167Ser) | |
| 4 | g.6291229C>A | CA356171895 | WFS1 | c.493C>A (p.Gln165Lys) c.483C>A c.244C>A (p.Gln82Lys) c.292C>A (p.Gln98Lys) c.367C>A (p.Gln123Lys) c.90C>A n.678C>A c.502C>A (p.Gln168Lys) | |
| 4 | g.6291229C>G | CA356171897 | WFS1 | c.493C>G (p.Gln165Glu) c.483C>G c.244C>G (p.Gln82Glu) c.292C>G (p.Gln98Glu) c.367C>G (p.Gln123Glu) c.90C>G n.678C>G c.502C>G (p.Gln168Glu) | |
| 4 | g.6291229C>T | CA356171896 | WFS1 | c.493C>T (p.Gln165Ter) c.483C>T c.244C>T (p.Gln82Ter) c.292C>T (p.Gln98Ter) c.367C>T (p.Gln123Ter) c.90C>T n.678C>T c.502C>T (p.Gln168Ter) | gnomAD v4 |
| 4 | g.6291230A>C | CA356171898 | WFS1 | c.494A>C (p.Gln165Pro) c.484A>C c.245A>C (p.Gln82Pro) c.293A>C (p.Gln98Pro) c.368A>C (p.Gln123Pro) c.91A>C n.679A>C c.503A>C (p.Gln168Pro) | |
| 4 | g.6291230A>G | CA356171899 | WFS1 | c.494A>G (p.Gln165Arg) c.484A>G c.245A>G (p.Gln82Arg) c.293A>G (p.Gln98Arg) c.368A>G (p.Gln123Arg) c.91A>G n.679A>G c.503A>G (p.Gln168Arg) | |
| 4 | g.6291230A>T | CA356171900 | WFS1 | c.494A>T (p.Gln165Leu) c.484A>T c.245A>T (p.Gln82Leu) c.293A>T (p.Gln98Leu) c.368A>T (p.Gln123Leu) c.91A>T n.679A>T c.503A>T (p.Gln168Leu) | |
| 4 | g.6291231G>A | CA2838920 | WFS1 | c.495G>A (p.Gln165=) c.485G>A c.246G>A (p.Gln82=) c.294G>A (p.Gln98=) c.369G>A (p.Gln123=) c.92G>A n.680G>A c.504G>A (p.Gln168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291231G>C | CA356171901 | WFS1 | c.495G>C (p.Gln165His) c.485G>C c.246G>C (p.Gln82His) c.294G>C (p.Gln98His) c.369G>C (p.Gln123His) c.92G>C n.680G>C c.504G>C (p.Gln168His) | gnomAD v4 |
| 4 | g.6291231G= | CA1435768578 | WFS1 | c.495G= (p.Gln165=) c.485G= c.246G= (p.Gln82=) c.294G= (p.Gln98=) c.369G= (p.Gln123=) c.92G= n.680G= c.504G= (p.Gln168=) | |
| 4 | g.6291231G>T | CA356171902 | WFS1 | c.495G>T (p.Gln165His) c.485G>T c.246G>T (p.Gln82His) c.294G>T (p.Gln98His) c.369G>T (p.Gln123His) c.92G>T n.680G>T c.504G>T (p.Gln168His) | |
| 4 | g.6291232C>A | CA356171903 | WFS1 | c.496C>A (p.Leu166Ile) c.486C>A c.247C>A (p.Leu83Ile) c.295C>A (p.Leu99Ile) c.370C>A (p.Leu124Ile) c.93C>A n.681C>A c.505C>A (p.Leu169Ile) | |
| 4 | g.6291232C>G | CA356171904 | WFS1 | c.496C>G (p.Leu166Val) c.486C>G c.247C>G (p.Leu83Val) c.295C>G (p.Leu99Val) c.370C>G (p.Leu124Val) c.93C>G n.681C>G c.505C>G (p.Leu169Val) | |
| 4 | g.6291232C>T | CA356171905 | WFS1 | c.496C>T (p.Leu166Phe) c.486C>T c.247C>T (p.Leu83Phe) c.295C>T (p.Leu99Phe) c.370C>T (p.Leu124Phe) c.93C>T n.681C>T c.505C>T (p.Leu169Phe) | |
| 4 | g.6291233T>A | CA356171906 | WFS1 | c.497T>A (p.Leu166His) c.487T>A c.248T>A (p.Leu83His) c.296T>A (p.Leu99His) c.371T>A (p.Leu124His) c.94T>A n.682T>A c.506T>A (p.Leu169His) | |
| 4 | g.6291233T>C | CA356171907 | WFS1 | c.497T>C (p.Leu166Pro) c.487T>C c.248T>C (p.Leu83Pro) c.296T>C (p.Leu99Pro) c.371T>C (p.Leu124Pro) c.94T>C n.682T>C c.506T>C (p.Leu169Pro) | dbSNP |
| 4 | g.6291233T>G | CA356171908 | WFS1 | c.497T>G (p.Leu166Arg) c.487T>G c.248T>G (p.Leu83Arg) c.296T>G (p.Leu99Arg) c.371T>G (p.Leu124Arg) c.94T>G n.682T>G c.506T>G (p.Leu169Arg) | |
| 4 | g.6291233T= | CA1435768579 | WFS1 | c.497T= (p.Leu166=) c.487T= c.248T= (p.Leu83=) c.296T= (p.Leu99=) c.371T= (p.Leu124=) c.94T= n.682T= c.506T= (p.Leu169=) | |
| 4 | g.6291234C>A | CA438210945 | WFS1 | c.498C>A (p.Leu166=) c.488C>A c.249C>A (p.Leu83=) c.297C>A (p.Leu99=) c.372C>A (p.Leu124=) c.95C>A n.683C>A c.507C>A (p.Leu169=) | |
| 4 | g.6291234C= | CA1435768580 | WFS1 | c.498C= (p.Leu166=) c.488C= c.249C= (p.Leu83=) c.297C= (p.Leu99=) c.372C= (p.Leu124=) c.95C= n.683C= c.507C= (p.Leu169=) | |
| 4 | g.6291234C>G | CA2838921 | WFS1 | c.498C>G (p.Leu166=) c.488C>G c.249C>G (p.Leu83=) c.297C>G (p.Leu99=) c.372C>G (p.Leu124=) c.95C>G n.683C>G c.507C>G (p.Leu169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291234C>T | CA438210944 | WFS1 | c.498C>T (p.Leu166=) c.488C>T c.249C>T (p.Leu83=) c.297C>T (p.Leu99=) c.372C>T (p.Leu124=) c.95C>T n.683C>T c.507C>T (p.Leu169=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291238_6291240del | CA2586973593 | WFS1 | c.502_504del (p.Ser168del) c.492_494del c.253_255del (p.Ser85del) c.301_303del (p.Ser101del) c.376_378del (p.Ser126del) c.99_101del n.687_689del c.511_513del (p.Ser171del) | |
| 4 | g.6291235T>A | CA356171909 | WFS1 | c.499T>A (p.Ser167Thr) c.489T>A c.250T>A (p.Ser84Thr) c.298T>A (p.Ser100Thr) c.373T>A (p.Ser125Thr) c.96T>A n.684T>A c.508T>A (p.Ser170Thr) | |
| 4 | g.6291235T>C | CA356171911 | WFS1 | c.499T>C (p.Ser167Pro) c.489T>C c.250T>C (p.Ser84Pro) c.298T>C (p.Ser100Pro) c.373T>C (p.Ser125Pro) c.96T>C n.684T>C c.508T>C (p.Ser170Pro) | |
| 4 | g.6291235T>G | CA356171910 | WFS1 | c.499T>G (p.Ser167Ala) c.489T>G c.250T>G (p.Ser84Ala) c.298T>G (p.Ser100Ala) c.373T>G (p.Ser125Ala) c.96T>G n.684T>G c.508T>G (p.Ser170Ala) | |
| 4 | g.6291236C>A | CA356171912 | WFS1 | c.500C>A (p.Ser167Tyr) c.490C>A c.251C>A (p.Ser84Tyr) c.299C>A (p.Ser100Tyr) c.374C>A (p.Ser125Tyr) c.97C>A n.685C>A c.509C>A (p.Ser170Tyr) | |
| 4 | g.6291236C>G | CA356171913 | WFS1 | c.500C>G (p.Ser167Cys) c.490C>G c.251C>G (p.Ser84Cys) c.299C>G (p.Ser100Cys) c.374C>G (p.Ser125Cys) c.97C>G n.685C>G c.509C>G (p.Ser170Cys) | |
| 4 | g.6291236C>T | CA356171914 | WFS1 | c.500C>T (p.Ser167Phe) c.490C>T c.251C>T (p.Ser84Phe) c.299C>T (p.Ser100Phe) c.374C>T (p.Ser125Phe) c.97C>T n.685C>T c.509C>T (p.Ser170Phe) | gnomAD v4 |
| 4 | g.6291237C>A | CA438210946 | WFS1 | c.501C>A (p.Ser167=) c.491C>A c.252C>A (p.Ser84=) c.300C>A (p.Ser100=) c.375C>A (p.Ser125=) c.98C>A n.686C>A c.510C>A (p.Ser170=) | |
| 4 | g.6291237C= | CA1435768581 | WFS1 | c.501C= (p.Ser167=) c.491C= c.252C= (p.Ser84=) c.300C= (p.Ser100=) c.375C= (p.Ser125=) c.98C= n.686C= c.510C= (p.Ser170=) | |
| 4 | g.6291237C>G | CA438210947 | WFS1 | c.501C>G (p.Ser167=) c.491C>G c.252C>G (p.Ser84=) c.300C>G (p.Ser100=) c.375C>G (p.Ser125=) c.98C>G n.686C>G c.510C>G (p.Ser170=) | |
| 4 | g.6291237C>T | CA438210948 | WFS1 | c.501C>T (p.Ser167=) c.491C>T c.252C>T (p.Ser84=) c.300C>T (p.Ser100=) c.375C>T (p.Ser125=) c.98C>T n.686C>T c.510C>T (p.Ser170=) | dbSNP gnomAD v2 |
| 4 | g.6291238T>A | CA356171915 | WFS1 | c.502T>A (p.Ser168Thr) c.492T>A c.253T>A (p.Ser85Thr) c.301T>A (p.Ser101Thr) c.376T>A (p.Ser126Thr) c.99T>A n.687T>A c.511T>A (p.Ser171Thr) | |
| 4 | g.6291238T>C | CA356171916 | WFS1 | c.502T>C (p.Ser168Pro) c.492T>C c.253T>C (p.Ser85Pro) c.301T>C (p.Ser101Pro) c.376T>C (p.Ser126Pro) c.99T>C n.687T>C c.511T>C (p.Ser171Pro) | |
| 4 | g.6291238T>G | CA356171917 | WFS1 | c.502T>G (p.Ser168Ala) c.492T>G c.253T>G (p.Ser85Ala) c.301T>G (p.Ser101Ala) c.376T>G (p.Ser126Ala) c.99T>G n.687T>G c.511T>G (p.Ser171Ala) | |
| 4 | g.6291238_6291239delinsTC | CA1435768582 | WFS1 | c.502_503delinsTC (p.Ser168=) c.492_493delinsTC c.253_254delinsTC (p.Ser85=) c.301_302delinsTC (p.Ser101=) c.376_377delinsTC (p.Ser126=) c.99_100delinsTC n.687_688delinsTC c.511_512delinsTC (p.Ser171=) | |
| 4 | g.6291239C>A | CA356171918 | WFS1 | c.503C>A (p.Ser168Tyr) c.493C>A c.254C>A (p.Ser85Tyr) c.302C>A (p.Ser101Tyr) c.377C>A (p.Ser126Tyr) c.100C>A n.688C>A c.512C>A (p.Ser171Tyr) | ClinVar |
| 4 | g.6291239C>G | CA356171919 | WFS1 | c.503C>G (p.Ser168Cys) c.493C>G c.254C>G (p.Ser85Cys) c.302C>G (p.Ser101Cys) c.377C>G (p.Ser126Cys) c.100C>G n.688C>G c.512C>G (p.Ser171Cys) | |
| 4 | g.6291239C>T | CA356171920 | WFS1 | c.503C>T (p.Ser168Phe) c.493C>T c.254C>T (p.Ser85Phe) c.302C>T (p.Ser101Phe) c.377C>T (p.Ser126Phe) c.100C>T n.688C>T c.512C>T (p.Ser171Phe) | |
| 4 | g.6291240del | CA549707975 | WFS1 | c.504del (p.Glu169ArgfsTer?) c.494del c.255del (p.Glu86ArgfsTer?) c.303del (p.Glu102ArgfsTer?) c.378del (p.Glu127ArgfsTer?) c.101del n.689del c.513del (p.Glu172ArgfsTer?) | dbSNP gnomAD v2 |
| 4 | g.6291240C>A | CA438210949 | WFS1 | c.504C>A (p.Ser168=) c.494C>A c.255C>A (p.Ser85=) c.303C>A (p.Ser101=) c.378C>A (p.Ser126=) c.101C>A n.689C>A c.513C>A (p.Ser171=) | |
| 4 | g.6291240C= | CA1435768583 | WFS1 | c.504C= (p.Ser168=) c.494C= c.255C= (p.Ser85=) c.303C= (p.Ser101=) c.378C= (p.Ser126=) c.101C= n.689C= c.513C= (p.Ser171=) | |
| 4 | g.6291240C>G | CA438210950 | WFS1 | c.504C>G (p.Ser168=) c.494C>G c.255C>G (p.Ser85=) c.303C>G (p.Ser101=) c.378C>G (p.Ser126=) c.101C>G n.689C>G c.513C>G (p.Ser171=) | |
| 4 | g.6291240C>T | CA2838922 | WFS1 | c.504C>T (p.Ser168=) c.494C>T c.255C>T (p.Ser85=) c.303C>T (p.Ser101=) c.378C>T (p.Ser126=) c.101C>T n.689C>T c.513C>T (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291241G>A | CA321089 | WFS1 | c.505G>A (p.Glu169Lys) c.495G>A c.256G>A (p.Glu86Lys) c.304G>A (p.Glu102Lys) c.379G>A (p.Glu127Lys) c.102G>A n.690G>A c.514G>A (p.Glu172Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291241G>C | CA356171922 | WFS1 | c.505G>C (p.Glu169Gln) c.495G>C c.256G>C (p.Glu86Gln) c.304G>C (p.Glu102Gln) c.379G>C (p.Glu127Gln) c.102G>C n.690G>C c.514G>C (p.Glu172Gln) | |
| 4 | g.6291241G= | CA1435768584 | WFS1 | c.505G= (p.Glu169=) c.495G= c.256G= (p.Glu86=) c.304G= (p.Glu102=) c.379G= (p.Glu127=) c.102G= n.690G= c.514G= (p.Glu172=) | |
| 4 | g.6291241G>T | CA356171921 | WFS1 | c.505G>T (p.Glu169Ter) c.495G>T c.256G>T (p.Glu86Ter) c.304G>T (p.Glu102Ter) c.379G>T (p.Glu127Ter) c.102G>T n.690G>T c.514G>T (p.Glu172Ter) | gnomAD v4 |
| 4 | g.6291242A>C | CA356171925 | WFS1 | c.506A>C (p.Glu169Ala) c.496A>C c.257A>C (p.Glu86Ala) c.305A>C (p.Glu102Ala) c.380A>C (p.Glu127Ala) c.103A>C n.691A>C c.515A>C (p.Glu172Ala) | |
| 4 | g.6291242A>G | CA356171923 | WFS1 | c.506A>G (p.Glu169Gly) c.496A>G c.257A>G (p.Glu86Gly) c.305A>G (p.Glu102Gly) c.380A>G (p.Glu127Gly) c.103A>G n.691A>G c.515A>G (p.Glu172Gly) | |
| 4 | g.6291242A>T | CA356171924 | WFS1 | c.506A>T (p.Glu169Val) c.496A>T c.257A>T (p.Glu86Val) c.305A>T (p.Glu102Val) c.380A>T (p.Glu127Val) c.103A>T n.691A>T c.515A>T (p.Glu172Val) | |
| 4 | g.6291243G>A | CA438210951 | WFS1 | c.507G>A (p.Glu169=) c.497G>A c.258G>A (p.Glu86=) c.306G>A (p.Glu102=) c.381G>A (p.Glu127=) c.104G>A n.692G>A c.516G>A (p.Glu172=) | gnomAD v4 |
| 4 | g.6291243G>C | CA356171926 | WFS1 | c.507G>C (p.Glu169Asp) c.497G>C c.258G>C (p.Glu86Asp) c.306G>C (p.Glu102Asp) c.381G>C (p.Glu127Asp) c.104G>C n.692G>C c.516G>C (p.Glu172Asp) | |
| 4 | g.6291243G>T | CA356171927 | WFS1 | c.507G>T (p.Glu169Asp) c.497G>T c.258G>T (p.Glu86Asp) c.306G>T (p.Glu102Asp) c.381G>T (p.Glu127Asp) c.104G>T n.692G>T c.516G>T (p.Glu172Asp) | |
| 4 | g.6291244A>C | CA356171928 | WFS1 | c.508A>C (p.Thr170Pro) c.498A>C c.259A>C (p.Thr87Pro) c.307A>C (p.Thr103Pro) c.382A>C (p.Thr128Pro) c.105A>C n.693A>C c.517A>C (p.Thr173Pro) | |
| 4 | g.6291244A>G | CA356171929 | WFS1 | c.508A>G (p.Thr170Ala) c.498A>G c.259A>G (p.Thr87Ala) c.307A>G (p.Thr103Ala) c.382A>G (p.Thr128Ala) c.105A>G n.693A>G c.517A>G (p.Thr173Ala) | |
| 4 | g.6291244A>T | CA356171930 | WFS1 | c.508A>T (p.Thr170Ser) c.498A>T c.259A>T (p.Thr87Ser) c.307A>T (p.Thr103Ser) c.382A>T (p.Thr128Ser) c.105A>T n.693A>T c.517A>T (p.Thr173Ser) | |
| 4 | g.6291245C>A | CA356171931 | WFS1 | c.509C>A (p.Thr170Asn) c.499C>A c.260C>A (p.Thr87Asn) c.308C>A (p.Thr103Asn) c.383C>A (p.Thr128Asn) c.106C>A n.694C>A c.518C>A (p.Thr173Asn) | |
| 4 | g.6291245C= | CA1435768585 | WFS1 | c.509C= (p.Thr170=) c.499C= c.260C= (p.Thr87=) c.308C= (p.Thr103=) c.383C= (p.Thr128=) c.106C= n.694C= c.518C= (p.Thr173=) | |
| 4 | g.6291245C>G | CA91794572 | WFS1 | c.509C>G (p.Thr170Ser) c.499C>G c.260C>G (p.Thr87Ser) c.308C>G (p.Thr103Ser) c.383C>G (p.Thr128Ser) c.106C>G n.694C>G c.518C>G (p.Thr173Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291245C>T | CA356171932 | WFS1 | c.509C>T (p.Thr170Ile) c.499C>T c.260C>T (p.Thr87Ile) c.308C>T (p.Thr103Ile) c.383C>T (p.Thr128Ile) c.106C>T n.694C>T c.518C>T (p.Thr173Ile) | |
| 4 | g.6291246C>A | CA438210952 | WFS1 | c.510C>A (p.Thr170=) c.500C>A c.261C>A (p.Thr87=) c.309C>A (p.Thr103=) c.384C>A (p.Thr128=) c.107C>A n.695C>A c.519C>A (p.Thr173=) | gnomAD v4 |
| 4 | g.6291246C= | CA1435768586 | WFS1 | c.510C= (p.Thr170=) c.500C= c.261C= (p.Thr87=) c.309C= (p.Thr103=) c.384C= (p.Thr128=) c.107C= n.695C= c.519C= (p.Thr173=) | |
| 4 | g.6291246C>G | CA321835 | WFS1 | c.510C>G (p.Thr170=) c.500C>G c.261C>G (p.Thr87=) c.309C>G (p.Thr103=) c.384C>G (p.Thr128=) c.107C>G n.695C>G c.519C>G (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291246C>T | CA2838923 | WFS1 | c.510C>T (p.Thr170=) c.500C>T c.261C>T (p.Thr87=) c.309C>T (p.Thr103=) c.384C>T (p.Thr128=) c.107C>T n.695C>T c.519C>T (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291247G>A | CA2838924 | WFS1 | c.511G>A (p.Asp171Asn) c.501G>A c.262G>A (p.Asp88Asn) c.310G>A (p.Asp104Asn) c.385G>A (p.Asp129Asn) c.108G>A n.696G>A c.520G>A (p.Asp174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291247G>C | CA2838925 | WFS1 | c.511G>C (p.Asp171His) c.501G>C c.262G>C (p.Asp88His) c.310G>C (p.Asp104His) c.385G>C (p.Asp129His) c.108G>C n.696G>C c.520G>C (p.Asp174His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291247G= | CA1435768587 | WFS1 | c.511G= (p.Asp171=) c.501G= c.262G= (p.Asp88=) c.310G= (p.Asp104=) c.385G= (p.Asp129=) c.108G= n.696G= c.520G= (p.Asp174=) | |
| 4 | g.6291247G>T | CA356171933 | WFS1 | c.511G>T (p.Asp171Tyr) c.501G>T c.262G>T (p.Asp88Tyr) c.310G>T (p.Asp104Tyr) c.385G>T (p.Asp129Tyr) c.108G>T n.696G>T c.520G>T (p.Asp174Tyr) | |
| 4 | g.6291248A>C | CA356171934 | WFS1 | c.512A>C (p.Asp171Ala) c.502A>C c.263A>C (p.Asp88Ala) c.311A>C (p.Asp104Ala) c.386A>C (p.Asp129Ala) c.109A>C n.697A>C c.521A>C (p.Asp174Ala) | |
| 4 | g.6291248A>G | CA356171935 | WFS1 | c.512A>G (p.Asp171Gly) c.502A>G c.263A>G (p.Asp88Gly) c.311A>G (p.Asp104Gly) c.386A>G (p.Asp129Gly) c.109A>G n.697A>G c.521A>G (p.Asp174Gly) | |
| 4 | g.6291248A>T | CA356171936 | WFS1 | c.512A>T (p.Asp171Val) c.502A>T c.263A>T (p.Asp88Val) c.311A>T (p.Asp104Val) c.386A>T (p.Asp129Val) c.109A>T n.697A>T c.521A>T (p.Asp174Val) | |
| 4 | g.6291249C>A | CA356171937 | WFS1 | c.513C>A (p.Asp171Glu) c.503C>A c.264C>A (p.Asp88Glu) c.312C>A (p.Asp104Glu) c.387C>A (p.Asp129Glu) c.110C>A n.698C>A c.522C>A (p.Asp174Glu) | |
| 4 | g.6291249C>G | CA356171938 | WFS1 | c.513C>G (p.Asp171Glu) c.503C>G c.264C>G (p.Asp88Glu) c.312C>G (p.Asp104Glu) c.387C>G (p.Asp129Glu) c.110C>G n.698C>G c.522C>G (p.Asp174Glu) | |
| 4 | g.6291249C>T | CA438210953 | WFS1 | c.513C>T (p.Asp171=) c.503C>T c.264C>T (p.Asp88=) c.312C>T (p.Asp104=) c.387C>T (p.Asp129=) c.110C>T n.698C>T c.522C>T (p.Asp174=) | gnomAD v4 |
| 4 | g.6291250C>A | CA356171940 | WFS1 | c.514C>A (p.Leu172Met) c.504C>A c.265C>A (p.Leu89Met) c.313C>A (p.Leu105Met) c.388C>A (p.Leu130Met) c.111C>A n.699C>A c.523C>A (p.Leu175Met) | |
| 4 | g.6291250C= | CA1435768588 | WFS1 | c.514C= (p.Leu172=) c.504C= c.265C= (p.Leu89=) c.313C= (p.Leu105=) c.388C= (p.Leu130=) c.111C= n.699C= c.523C= (p.Leu175=) | |
| 4 | g.6291250C>G | CA356171939 | WFS1 | c.514C>G (p.Leu172Val) c.504C>G c.265C>G (p.Leu89Val) c.313C>G (p.Leu105Val) c.388C>G (p.Leu130Val) c.111C>G n.699C>G c.523C>G (p.Leu175Val) | |
| 4 | g.6291250C>T | CA2838926 | WFS1 | c.514C>T (p.Leu172=) c.504C>T c.265C>T (p.Leu89=) c.313C>T (p.Leu105=) c.388C>T (p.Leu130=) c.111C>T n.699C>T c.523C>T (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291251T>A | CA356171941 | WFS1 | c.515T>A (p.Leu172Gln) c.505T>A c.266T>A (p.Leu89Gln) c.314T>A (p.Leu105Gln) c.389T>A (p.Leu130Gln) c.112T>A n.700T>A c.524T>A (p.Leu175Gln) | gnomAD v4 |
| 4 | g.6291251T>C | CA356171942 | WFS1 | c.515T>C (p.Leu172Pro) c.505T>C c.266T>C (p.Leu89Pro) c.314T>C (p.Leu105Pro) c.389T>C (p.Leu130Pro) c.112T>C n.700T>C c.524T>C (p.Leu175Pro) | |
| 4 | g.6291251T>G | CA356171943 | WFS1 | c.515T>G (p.Leu172Arg) c.505T>G c.266T>G (p.Leu89Arg) c.314T>G (p.Leu105Arg) c.389T>G (p.Leu130Arg) c.112T>G n.700T>G c.524T>G (p.Leu175Arg) | |
| 4 | g.6291252G>A | CA438210954 | WFS1 | c.516G>A (p.Leu172=) c.506G>A c.267G>A (p.Leu89=) c.315G>A (p.Leu105=) c.390G>A (p.Leu130=) c.113G>A n.701G>A c.525G>A (p.Leu175=) | |
| 4 | g.6291252G>C | CA438210955 | WFS1 | c.516G>C (p.Leu172=) c.506G>C c.267G>C (p.Leu89=) c.315G>C (p.Leu105=) c.390G>C (p.Leu130=) c.113G>C n.701G>C c.525G>C (p.Leu175=) | |
| 4 | g.6291252G>T | CA438210956 | WFS1 | c.516G>T (p.Leu172=) c.506G>T c.267G>T (p.Leu89=) c.315G>T (p.Leu105=) c.390G>T (p.Leu130=) c.113G>T n.701G>T c.525G>T (p.Leu175=) | |
| 4 | g.6291253G>A | CA356171944 | WFS1 | c.517G>A (p.Glu173Lys) c.507G>A c.268G>A (p.Glu90Lys) c.316G>A (p.Glu106Lys) c.391G>A (p.Glu131Lys) c.114G>A n.702G>A c.526G>A (p.Glu176Lys) | |
| 4 | g.6291253G>C | CA356171945 | WFS1 | c.517G>C (p.Glu173Gln) c.507G>C c.268G>C (p.Glu90Gln) c.316G>C (p.Glu106Gln) c.391G>C (p.Glu131Gln) c.114G>C n.702G>C c.526G>C (p.Glu176Gln) | ClinVar |
| 4 | g.6291253G>T | CA356171946 | WFS1 | c.517G>T (p.Glu173Ter) c.507G>T c.268G>T (p.Glu90Ter) c.316G>T (p.Glu106Ter) c.391G>T (p.Glu131Ter) c.114G>T n.702G>T c.526G>T (p.Glu176Ter) | |
| 4 | g.6291254A>C | CA356171948 | WFS1 | c.518A>C (p.Glu173Ala) c.508A>C c.269A>C (p.Glu90Ala) c.317A>C (p.Glu106Ala) c.392A>C (p.Glu131Ala) c.115A>C n.703A>C c.527A>C (p.Glu176Ala) | |
| 4 | g.6291254A>G | CA356171949 | WFS1 | c.518A>G (p.Glu173Gly) c.508A>G c.269A>G (p.Glu90Gly) c.317A>G (p.Glu106Gly) c.392A>G (p.Glu131Gly) c.115A>G n.703A>G c.527A>G (p.Glu176Gly) | gnomAD v4 |
| 4 | g.6291254A>T | CA356171947 | WFS1 | c.518A>T (p.Glu173Val) c.508A>T c.269A>T (p.Glu90Val) c.317A>T (p.Glu106Val) c.392A>T (p.Glu131Val) c.115A>T n.703A>T c.527A>T (p.Glu176Val) | |
| 4 | g.6291255G>A | CA438210957 | WFS1 | c.519G>A (p.Glu173=) c.509G>A c.270G>A (p.Glu90=) c.318G>A (p.Glu106=) c.393G>A (p.Glu131=) c.116G>A n.704G>A c.528G>A (p.Glu176=) | gnomAD v4 |
| 4 | g.6291255G>C | CA356171950 | WFS1 | c.519G>C (p.Glu173Asp) c.509G>C c.270G>C (p.Glu90Asp) c.318G>C (p.Glu106Asp) c.393G>C (p.Glu131Asp) c.116G>C n.704G>C c.528G>C (p.Glu176Asp) | |
| 4 | g.6291255G>T | CA356171951 | WFS1 | c.519G>T (p.Glu173Asp) c.509G>T c.270G>T (p.Glu90Asp) c.318G>T (p.Glu106Asp) c.393G>T (p.Glu131Asp) c.116G>T n.704G>T c.528G>T (p.Glu176Asp) | COSMIC |
| 4 | g.6291256A= | CA1435768589 | WFS1 | c.520A= (p.Arg174=) c.510A= c.271A= (p.Arg91=) c.319A= (p.Arg107=) c.394A= (p.Arg132=) c.117A= n.705A= c.529A= (p.Arg177=) | |
| 4 | g.6291256A>C | CA438210958 | WFS1 | c.520A>C (p.Arg174=) c.510A>C c.271A>C (p.Arg91=) c.319A>C (p.Arg107=) c.394A>C (p.Arg132=) c.117A>C n.705A>C c.529A>C (p.Arg177=) | |
| 4 | g.6291256A>G | CA356171952 | WFS1 | c.520A>G (p.Arg174Gly) c.510A>G c.271A>G (p.Arg91Gly) c.319A>G (p.Arg107Gly) c.394A>G (p.Arg132Gly) c.117A>G n.705A>G c.529A>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291256A>T | CA356171953 | WFS1 | c.520A>T (p.Arg174Trp) c.510A>T c.271A>T (p.Arg91Trp) c.319A>T (p.Arg107Trp) c.394A>T (p.Arg132Trp) c.117A>T n.705A>T c.529A>T (p.Arg177Trp) | |
| 4 | g.6291257G>A | CA356171954 | WFS1 | c.521G>A (p.Arg174Lys) c.511G>A c.272G>A (p.Arg91Lys) c.320G>A (p.Arg107Lys) c.395G>A (p.Arg132Lys) c.118G>A n.706G>A c.530G>A (p.Arg177Lys) | |
| 4 | g.6291257G>C | CA356171955 | WFS1 | c.521G>C (p.Arg174Thr) c.511G>C c.272G>C (p.Arg91Thr) c.320G>C (p.Arg107Thr) c.395G>C (p.Arg132Thr) c.118G>C n.706G>C c.530G>C (p.Arg177Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291257G= | CA1435768590 | WFS1 | c.521G= (p.Arg174=) c.511G= c.272G= (p.Arg91=) c.320G= (p.Arg107=) c.395G= (p.Arg132=) c.118G= n.706G= c.530G= (p.Arg177=) | |
| 4 | g.6291257G>T | CA356171956 | WFS1 | c.521G>T (p.Arg174Met) c.511G>T c.272G>T (p.Arg91Met) c.320G>T (p.Arg107Met) c.395G>T (p.Arg132Met) c.118G>T n.706G>T c.530G>T (p.Arg177Met) | |
| 4 | g.6291258G>A | CA438210959 | WFS1 | c.522G>A (p.Arg174=) c.512G>A c.273G>A (p.Arg91=) c.321G>A (p.Arg107=) c.396G>A (p.Arg132=) c.119G>A n.707G>A c.531G>A (p.Arg177=) | gnomAD v4 |
| 4 | g.6291258G>C | CA356171957 | WFS1 | c.522G>C (p.Arg174Ser) c.512G>C c.273G>C (p.Arg91Ser) c.321G>C (p.Arg107Ser) c.396G>C (p.Arg132Ser) c.119G>C n.707G>C c.531G>C (p.Arg177Ser) | |
| 4 | g.6291258G>T | CA356171958 | WFS1 | c.522G>T (p.Arg174Ser) c.512G>T c.273G>T (p.Arg91Ser) c.321G>T (p.Arg107Ser) c.396G>T (p.Arg132Ser) c.119G>T n.707G>T c.531G>T (p.Arg177Ser) | |
| 4 | g.6291259G>A | CA356171959 | WFS1 | c.523G>A (p.Ala175Thr) c.513G>A c.274G>A (p.Ala92Thr) c.322G>A (p.Ala108Thr) c.397G>A (p.Ala133Thr) c.120G>A n.708G>A c.532G>A (p.Ala178Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6291259G>C | CA356171960 | WFS1 | c.523G>C (p.Ala175Pro) c.513G>C c.274G>C (p.Ala92Pro) c.322G>C (p.Ala108Pro) c.397G>C (p.Ala133Pro) c.120G>C n.708G>C c.532G>C (p.Ala178Pro) | |
| 4 | g.6291259G= | CA1435768591 | WFS1 | c.523G= (p.Ala175=) c.513G= c.274G= (p.Ala92=) c.322G= (p.Ala108=) c.397G= (p.Ala133=) c.120G= n.708G= c.532G= (p.Ala178=) | |
| 4 | g.6291259G>T | CA356171961 | WFS1 | c.523G>T (p.Ala175Ser) c.513G>T c.274G>T (p.Ala92Ser) c.322G>T (p.Ala108Ser) c.397G>T (p.Ala133Ser) c.120G>T n.708G>T c.532G>T (p.Ala178Ser) | gnomAD v4 |
| 4 | g.6291260C>A | CA356171962 | WFS1 | c.524C>A (p.Ala175Asp) c.514C>A c.275C>A (p.Ala92Asp) c.323C>A (p.Ala108Asp) c.398C>A (p.Ala133Asp) c.121C>A n.709C>A c.533C>A (p.Ala178Asp) | |
| 4 | g.6291260C>G | CA356171963 | WFS1 | c.524C>G (p.Ala175Gly) c.514C>G c.275C>G (p.Ala92Gly) c.323C>G (p.Ala108Gly) c.398C>G (p.Ala133Gly) c.121C>G n.709C>G c.533C>G (p.Ala178Gly) | |
| 4 | g.6291260C>T | CA356171964 | WFS1 | c.524C>T (p.Ala175Val) c.514C>T c.275C>T (p.Ala92Val) c.323C>T (p.Ala108Val) c.398C>T (p.Ala133Val) c.121C>T n.709C>T c.533C>T (p.Ala178Val) | gnomAD v4 |
| 4 | g.6291261C>A | CA438210960 | WFS1 | c.525C>A (p.Ala175=) c.515C>A c.276C>A (p.Ala92=) c.324C>A (p.Ala108=) c.399C>A (p.Ala133=) c.122C>A n.710C>A c.534C>A (p.Ala178=) | |
| 4 | g.6291261C= | CA1435768592 | WFS1 | c.525C= (p.Ala175=) c.515C= c.276C= (p.Ala92=) c.324C= (p.Ala108=) c.399C= (p.Ala133=) c.122C= n.710C= c.534C= (p.Ala178=) | |
| 4 | g.6291261C>G | CA438210961 | WFS1 | c.525C>G (p.Ala175=) c.515C>G c.276C>G (p.Ala92=) c.324C>G (p.Ala108=) c.399C>G (p.Ala133=) c.122C>G n.710C>G c.534C>G (p.Ala178=) | |
| 4 | g.6291261C>T | CA2838927 | WFS1 | c.525C>T (p.Ala175=) c.515C>T c.276C>T (p.Ala92=) c.324C>T (p.Ala108=) c.399C>T (p.Ala133=) c.122C>T n.710C>T c.534C>T (p.Ala178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291262G>A | CA2838928 | WFS1 | c.526G>A (p.Val176Met) c.516G>A c.277G>A (p.Val93Met) c.325G>A (p.Val109Met) c.400G>A (p.Val134Met) c.123G>A n.711G>A c.535G>A (p.Val179Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6291262G>C | CA356171965 | WFS1 | c.526G>C (p.Val176Leu) c.516G>C c.277G>C (p.Val93Leu) c.325G>C (p.Val109Leu) c.400G>C (p.Val134Leu) c.123G>C n.711G>C c.535G>C (p.Val179Leu) | |
| 4 | g.6291262G= | CA1435768593 | WFS1 | c.526G= (p.Val176=) c.516G= c.277G= (p.Val93=) c.325G= (p.Val109=) c.400G= (p.Val134=) c.123G= n.711G= c.535G= (p.Val179=) | |
| 4 | g.6291262G>T | CA356171966 | WFS1 | c.526G>T (p.Val176Leu) c.516G>T c.277G>T (p.Val93Leu) c.325G>T (p.Val109Leu) c.400G>T (p.Val134Leu) c.123G>T n.711G>T c.535G>T (p.Val179Leu) | gnomAD v4 |
| 4 | g.6291263del | CA2669825845 | WFS1 | c.527del (p.Val176GlyfsTer?) c.517del c.278del (p.Val93GlyfsTer?) c.326del (p.Val109GlyfsTer?) c.401del (p.Val134GlyfsTer?) c.124del n.712del c.536del (p.Val179GlyfsTer?) | gnomAD v4 |
| 4 | g.6291263T>A | CA91794573 | WFS1 | c.527T>A (p.Val176Glu) c.517T>A c.278T>A (p.Val93Glu) c.326T>A (p.Val109Glu) c.401T>A (p.Val134Glu) c.124T>A n.712T>A c.536T>A (p.Val179Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291263T>C | CA2838929 | WFS1 | c.527T>C (p.Val176Ala) c.517T>C c.278T>C (p.Val93Ala) c.326T>C (p.Val109Ala) c.401T>C (p.Val134Ala) c.124T>C n.712T>C c.536T>C (p.Val179Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291263T>G | CA356171967 | WFS1 | c.527T>G (p.Val176Gly) c.517T>G c.278T>G (p.Val93Gly) c.326T>G (p.Val109Gly) c.401T>G (p.Val134Gly) c.124T>G n.712T>G c.536T>G (p.Val179Gly) | |
| 4 | g.6291263T= | CA1435768594 | WFS1 | c.527T= (p.Val176=) c.517T= c.278T= (p.Val93=) c.326T= (p.Val109=) c.401T= (p.Val134=) c.124T= n.712T= c.536T= (p.Val179=) | |
| 4 | g.6291264G>A | CA438210962 | WFS1 | c.528G>A (p.Val176=) c.518G>A c.279G>A (p.Val93=) c.327G>A (p.Val109=) c.402G>A (p.Val134=) c.125G>A n.713G>A c.537G>A (p.Val179=) | |
| 4 | g.6291264G>C | CA438210963 | WFS1 | c.528G>C (p.Val176=) c.518G>C c.279G>C (p.Val93=) c.327G>C (p.Val109=) c.402G>C (p.Val134=) c.125G>C n.713G>C c.537G>C (p.Val179=) | |
| 4 | g.6291264G>T | CA438210964 | WFS1 | c.528G>T (p.Val176=) c.518G>T c.279G>T (p.Val93=) c.327G>T (p.Val109=) c.402G>T (p.Val134=) c.125G>T n.713G>T c.537G>T (p.Val179=) | gnomAD v4 |
| 4 | g.6291264_6291267dup | CA2580616070 | WFS1 | c.528_531dup (p.Lys178AlafsTer?) c.518_521dup c.279_282dup (p.Lys95AlafsTer?) c.327_330dup (p.Lys111AlafsTer?) c.402_405dup (p.Lys136AlafsTer?) c.125_128dup n.713_716dup c.537_540dup (p.Lys181AlafsTer?) | ClinVar dbSNP |
| 4 | g.6291265C>A | CA2838930 | WFS1 | c.529C>A (p.Arg177Ser) c.519C>A c.280C>A (p.Arg94Ser) c.328C>A (p.Arg110Ser) c.403C>A (p.Arg135Ser) c.126C>A n.714C>A c.538C>A (p.Arg180Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291265C= | CA1435768595 | WFS1 | c.529C= (p.Arg177=) c.519C= c.280C= (p.Arg94=) c.328C= (p.Arg110=) c.403C= (p.Arg135=) c.126C= n.714C= c.538C= (p.Arg180=) | |
| 4 | g.6291265C>G | CA356171968 | WFS1 | c.529C>G (p.Arg177Gly) c.519C>G c.280C>G (p.Arg94Gly) c.328C>G (p.Arg110Gly) c.403C>G (p.Arg135Gly) c.126C>G n.714C>G c.538C>G (p.Arg180Gly) | |
| 4 | g.6291265C>T | CA91794574 | WFS1 | c.529C>T (p.Arg177Cys) c.519C>T c.280C>T (p.Arg94Cys) c.328C>T (p.Arg110Cys) c.403C>T (p.Arg135Cys) c.126C>T n.714C>T c.538C>T (p.Arg180Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6291266G>A | CA2838931 | WFS1 | c.530G>A (p.Arg177His) c.520G>A c.281G>A (p.Arg94His) c.329G>A (p.Arg110His) c.404G>A (p.Arg135His) c.127G>A n.715G>A c.539G>A (p.Arg180His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291266G>C | CA356171969 | WFS1 | c.530G>C (p.Arg177Pro) c.520G>C c.281G>C (p.Arg94Pro) c.329G>C (p.Arg110Pro) c.404G>C (p.Arg135Pro) c.127G>C n.715G>C c.539G>C (p.Arg180Pro) | |
| 4 | g.6291266G= | CA1435768596 | WFS1 | c.530G= (p.Arg177=) c.520G= c.281G= (p.Arg94=) c.329G= (p.Arg110=) c.404G= (p.Arg135=) c.127G= n.715G= c.539G= (p.Arg180=) | |
| 4 | g.6291266G>T | CA356171970 | WFS1 | c.530G>T (p.Arg177Leu) c.520G>T c.281G>T (p.Arg94Leu) c.329G>T (p.Arg110Leu) c.404G>T (p.Arg135Leu) c.127G>T n.715G>T c.539G>T (p.Arg180Leu) | gnomAD v4 |
| 4 | g.6291267C>A | CA438210965 | WFS1 | c.531C>A (p.Arg177=) c.521C>A c.282C>A (p.Arg94=) c.330C>A (p.Arg110=) c.405C>A (p.Arg135=) c.128C>A n.716C>A c.540C>A (p.Arg180=) | |
| 4 | g.6291267C>G | CA438210966 | WFS1 | c.531C>G (p.Arg177=) c.521C>G c.282C>G (p.Arg94=) c.330C>G (p.Arg110=) c.405C>G (p.Arg135=) c.128C>G n.716C>G c.540C>G (p.Arg180=) | |
| 4 | g.6291267C>T | CA438210967 | WFS1 | c.531C>T (p.Arg177=) c.521C>T c.282C>T (p.Arg94=) c.330C>T (p.Arg110=) c.405C>T (p.Arg135=) c.128C>T n.716C>T c.540C>T (p.Arg180=) | |
| 4 | g.6291268A>C | CA356171973 | WFS1 | c.532A>C (p.Lys178Gln) c.522A>C c.283A>C (p.Lys95Gln) c.331A>C (p.Lys111Gln) c.406A>C (p.Lys136Gln) c.129A>C n.717A>C c.541A>C (p.Lys181Gln) | |
| 4 | g.6291268A>G | CA356171972 | WFS1 | c.532A>G (p.Lys178Glu) c.522A>G c.283A>G (p.Lys95Glu) c.331A>G (p.Lys111Glu) c.406A>G (p.Lys136Glu) c.129A>G n.717A>G c.541A>G (p.Lys181Glu) | |
| 4 | g.6291268A>T | CA356171971 | WFS1 | c.532A>T (p.Lys178Ter) c.522A>T c.283A>T (p.Lys95Ter) c.331A>T (p.Lys111Ter) c.406A>T (p.Lys136Ter) c.129A>T n.717A>T c.541A>T (p.Lys181Ter) | |
| 4 | g.6291268_6291273del | CA2586973594 | WFS1 | c.532_537del (p.Lys178_Ala179del) c.522_527del c.283_288del (p.Lys95_Ala96del) c.331_336del (p.Lys111_Ala112del) c.406_411del (p.Lys136_Ala137del) c.129_134del n.717_722del c.541_546del (p.Lys181_Ala182del) | |
| 4 | g.6291269A>C | CA356171974 | WFS1 | c.533A>C (p.Lys178Thr) c.523A>C c.284A>C (p.Lys95Thr) c.332A>C (p.Lys111Thr) c.407A>C (p.Lys136Thr) c.130A>C n.718A>C c.542A>C (p.Lys181Thr) | |
| 4 | g.6291269A>G | CA356171975 | WFS1 | c.533A>G (p.Lys178Arg) c.523A>G c.284A>G (p.Lys95Arg) c.332A>G (p.Lys111Arg) c.407A>G (p.Lys136Arg) c.130A>G n.718A>G c.542A>G (p.Lys181Arg) | |
| 4 | g.6291269A>T | CA356171976 | WFS1 | c.533A>T (p.Lys178Met) c.523A>T c.284A>T (p.Lys95Met) c.332A>T (p.Lys111Met) c.407A>T (p.Lys136Met) c.130A>T n.718A>T c.542A>T (p.Lys181Met) | |
| 4 | g.6291269_6291274del | CA2586973595 | WFS1 | c.533_538del (p.Lys178_Ala180delinsThr) c.523_528del c.284_289del (p.Lys95_Ala97delinsThr) c.332_337del (p.Lys111_Ala113delinsThr) c.407_412del (p.Lys136_Ala138delinsThr) c.130_135del n.718_723del c.542_547del (p.Lys181_Ala183delinsThr) | |
| 4 | g.6291270G>A | CA438210968 | WFS1 | c.534G>A (p.Lys178=) c.524G>A c.285G>A (p.Lys95=) c.333G>A (p.Lys111=) c.408G>A (p.Lys136=) c.131G>A n.719G>A c.543G>A (p.Lys181=) | |
| 4 | g.6291270G>C | CA356171977 | WFS1 | c.534G>C (p.Lys178Asn) c.524G>C c.285G>C (p.Lys95Asn) c.333G>C (p.Lys111Asn) c.408G>C (p.Lys136Asn) c.131G>C n.719G>C c.543G>C (p.Lys181Asn) | |
| 4 | g.6291270G>T | CA356171978 | WFS1 | c.534G>T (p.Lys178Asn) c.524G>T c.285G>T (p.Lys95Asn) c.333G>T (p.Lys111Asn) c.408G>T (p.Lys136Asn) c.131G>T n.719G>T c.543G>T (p.Lys181Asn) | |
| 4 | g.6291271G>A | CA2838932 | WFS1 | c.535G>A (p.Ala179Thr) c.525G>A c.286G>A (p.Ala96Thr) c.334G>A (p.Ala112Thr) c.409G>A (p.Ala137Thr) c.132G>A n.720G>A c.544G>A (p.Ala182Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291271G>C | CA356171980 | WFS1 | c.535G>C (p.Ala179Pro) c.525G>C c.286G>C (p.Ala96Pro) c.334G>C (p.Ala112Pro) c.409G>C (p.Ala137Pro) c.132G>C n.720G>C c.544G>C (p.Ala182Pro) | |
| 4 | g.6291271G= | CA1435768597 | WFS1 | c.535G= (p.Ala179=) c.525G= c.286G= (p.Ala96=) c.334G= (p.Ala112=) c.409G= (p.Ala137=) c.132G= n.720G= c.544G= (p.Ala182=) | |
| 4 | g.6291271G>T | CA356171979 | WFS1 | c.535G>T (p.Ala179Ser) c.525G>T c.286G>T (p.Ala96Ser) c.334G>T (p.Ala112Ser) c.409G>T (p.Ala137Ser) c.132G>T n.720G>T c.544G>T (p.Ala182Ser) | |
| 4 | g.6291272C>A | CA356171981 | WFS1 | c.536C>A (p.Ala179Glu) c.526C>A c.287C>A (p.Ala96Glu) c.335C>A (p.Ala112Glu) c.410C>A (p.Ala137Glu) c.133C>A n.721C>A c.545C>A (p.Ala182Glu) | |
| 4 | g.6291272C>G | CA356171982 | WFS1 | c.536C>G (p.Ala179Gly) c.526C>G c.287C>G (p.Ala96Gly) c.335C>G (p.Ala112Gly) c.410C>G (p.Ala137Gly) c.133C>G n.721C>G c.545C>G (p.Ala182Gly) | |
| 4 | g.6291272C>T | CA356171983 | WFS1 | c.536C>T (p.Ala179Val) c.526C>T c.287C>T (p.Ala96Val) c.335C>T (p.Ala112Val) c.410C>T (p.Ala137Val) c.133C>T n.721C>T c.545C>T (p.Ala182Val) | gnomAD v4 |
| 4 | g.6291273A= | CA1435768598 | WFS1 | c.537A= (p.Ala179=) c.527A= c.288A= (p.Ala96=) c.336A= (p.Ala112=) c.411A= (p.Ala137=) c.134A= n.722A= c.546A= (p.Ala182=) | |
| 4 | g.6291273A>C | CA438210969 | WFS1 | c.537A>C (p.Ala179=) c.527A>C c.288A>C (p.Ala96=) c.336A>C (p.Ala112=) c.411A>C (p.Ala137=) c.134A>C n.722A>C c.546A>C (p.Ala182=) | dbSNP gnomAD v4 |
| 4 | g.6291273A>G | CA438210970 | WFS1 | c.537A>G (p.Ala179=) c.527A>G c.288A>G (p.Ala96=) c.336A>G (p.Ala112=) c.411A>G (p.Ala137=) c.134A>G n.722A>G c.546A>G (p.Ala182=) | |
| 4 | g.6291273A>T | CA438210971 | WFS1 | c.537A>T (p.Ala179=) c.527A>T c.288A>T (p.Ala96=) c.336A>T (p.Ala112=) c.411A>T (p.Ala137=) c.134A>T n.722A>T c.546A>T (p.Ala182=) | |
| 4 | g.6291274G>A | CA356171984 | WFS1 | c.538G>A (p.Ala180Thr) c.528G>A c.289G>A (p.Ala97Thr) c.337G>A (p.Ala113Thr) c.412G>A (p.Ala138Thr) c.135G>A n.723G>A c.547G>A (p.Ala183Thr) | |
| 4 | g.6291274G>C | CA356171985 | WFS1 | c.538G>C (p.Ala180Pro) c.528G>C c.289G>C (p.Ala97Pro) c.337G>C (p.Ala113Pro) c.412G>C (p.Ala138Pro) c.135G>C n.723G>C c.547G>C (p.Ala183Pro) | |
| 4 | g.6291274G>T | CA356171986 | WFS1 | c.538G>T (p.Ala180Ser) c.528G>T c.289G>T (p.Ala97Ser) c.337G>T (p.Ala113Ser) c.412G>T (p.Ala138Ser) c.135G>T n.723G>T c.547G>T (p.Ala183Ser) | |
| 4 | g.6291275C>A | CA91794575 | WFS1 | c.539C>A (p.Ala180Asp) c.529C>A c.290C>A (p.Ala97Asp) c.338C>A (p.Ala113Asp) c.413C>A (p.Ala138Asp) c.136C>A n.724C>A c.548C>A (p.Ala183Asp) | dbSNP |
| 4 | g.6291275C= | CA1435768599 | WFS1 | c.539C= (p.Ala180=) c.529C= c.290C= (p.Ala97=) c.338C= (p.Ala113=) c.413C= (p.Ala138=) c.136C= n.724C= c.548C= (p.Ala183=) | |
| 4 | g.6291275C>G | CA356171988 | WFS1 | c.539C>G (p.Ala180Gly) c.529C>G c.290C>G (p.Ala97Gly) c.338C>G (p.Ala113Gly) c.413C>G (p.Ala138Gly) c.136C>G n.724C>G c.548C>G (p.Ala183Gly) | |
| 4 | g.6291275C>T | CA356171987 | WFS1 | c.539C>T (p.Ala180Val) c.529C>T c.290C>T (p.Ala97Val) c.338C>T (p.Ala113Val) c.413C>T (p.Ala138Val) c.136C>T n.724C>T c.548C>T (p.Ala183Val) | |
| 4 | g.6291276C>A | CA438210972 | WFS1 | c.540C>A (p.Ala180=) c.530C>A c.291C>A (p.Ala97=) c.339C>A (p.Ala113=) c.414C>A (p.Ala138=) c.137C>A n.725C>A c.549C>A (p.Ala183=) | |
| 4 | g.6291276C= | CA1435768600 | WFS1 | c.540C= (p.Ala180=) c.530C= c.291C= (p.Ala97=) c.339C= (p.Ala113=) c.414C= (p.Ala138=) c.137C= n.725C= c.549C= (p.Ala183=) | |
| 4 | g.6291276C>G | CA438210974 | WFS1 | c.540C>G (p.Ala180=) c.530C>G c.291C>G (p.Ala97=) c.339C>G (p.Ala113=) c.414C>G (p.Ala138=) c.137C>G n.725C>G c.549C>G (p.Ala183=) | |
| 4 | g.6291276C>T | CA438210973 | WFS1 | c.540C>T (p.Ala180=) c.530C>T c.291C>T (p.Ala97=) c.339C>T (p.Ala113=) c.414C>T (p.Ala138=) c.137C>T n.725C>T c.549C>T (p.Ala183=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291277C>A | CA356171989 | WFS1 | c.541C>A (p.Leu181Met) c.531C>A c.292C>A (p.Leu98Met) c.340C>A (p.Leu114Met) c.415C>A (p.Leu139Met) c.138C>A n.726C>A c.550C>A (p.Leu184Met) | |
| 4 | g.6291277C= | CA1435768601 | WFS1 | c.541C= (p.Leu181=) c.531C= c.292C= (p.Leu98=) c.340C= (p.Leu114=) c.415C= (p.Leu139=) c.138C= n.726C= c.550C= (p.Leu184=) | |
| 4 | g.6291277C>G | CA356171990 | WFS1 | c.541C>G (p.Leu181Val) c.531C>G c.292C>G (p.Leu98Val) c.340C>G (p.Leu114Val) c.415C>G (p.Leu139Val) c.138C>G n.726C>G c.550C>G (p.Leu184Val) | |
| 4 | g.6291277C>T | CA2838933 | WFS1 | c.541C>T (p.Leu181=) c.531C>T c.292C>T (p.Leu98=) c.340C>T (p.Leu114=) c.415C>T (p.Leu139=) c.138C>T n.726C>T c.550C>T (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291278T>A | CA356171991 | WFS1 | c.542T>A (p.Leu181Gln) c.532T>A c.293T>A (p.Leu98Gln) c.341T>A (p.Leu114Gln) c.416T>A (p.Leu139Gln) c.139T>A n.727T>A c.551T>A (p.Leu184Gln) | gnomAD v4 |
| 4 | g.6291278T>C | CA356171992 | WFS1 | c.542T>C (p.Leu181Pro) c.532T>C c.293T>C (p.Leu98Pro) c.341T>C (p.Leu114Pro) c.416T>C (p.Leu139Pro) c.139T>C n.727T>C c.551T>C (p.Leu184Pro) | gnomAD v4 |
| 4 | g.6291278T>G | CA356171993 | WFS1 | c.542T>G (p.Leu181Arg) c.532T>G c.293T>G (p.Leu98Arg) c.341T>G (p.Leu114Arg) c.416T>G (p.Leu139Arg) c.139T>G n.727T>G c.551T>G (p.Leu184Arg) | |
| 4 | g.6291279G>A | CA438210975 | WFS1 | c.543G>A (p.Leu181=) c.533G>A c.294G>A (p.Leu98=) c.342G>A (p.Leu114=) c.417G>A (p.Leu139=) c.140G>A n.728G>A c.552G>A (p.Leu184=) | gnomAD v4 |
| 4 | g.6291279G>C | CA2838934 | WFS1 | c.543G>C (p.Leu181=) c.533G>C c.294G>C (p.Leu98=) c.342G>C (p.Leu114=) c.417G>C (p.Leu139=) c.140G>C n.728G>C c.552G>C (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291279G= | CA1435768602 | WFS1 | c.543G= (p.Leu181=) c.533G= c.294G= (p.Leu98=) c.342G= (p.Leu114=) c.417G= (p.Leu139=) c.140G= n.728G= c.552G= (p.Leu184=) | |
| 4 | g.6291279G>T | CA438210976 | WFS1 | c.543G>T (p.Leu181=) c.533G>T c.294G>T (p.Leu98=) c.342G>T (p.Leu114=) c.417G>T (p.Leu139=) c.140G>T n.728G>T c.552G>T (p.Leu184=) | |
| 4 | g.6291280G>A | CA356171994 | WFS1 | c.544G>A (p.Val182Ile) c.534G>A c.295G>A (p.Val99Ile) c.343G>A (p.Val115Ile) c.418G>A (p.Val140Ile) c.141G>A n.729G>A c.553G>A (p.Val185Ile) | |
| 4 | g.6291280G>C | CA356171995 | WFS1 | c.544G>C (p.Val182Leu) c.534G>C c.295G>C (p.Val99Leu) c.343G>C (p.Val115Leu) c.418G>C (p.Val140Leu) c.141G>C n.729G>C c.553G>C (p.Val185Leu) | |
| 4 | g.6291280G>T | CA356171996 | WFS1 | c.544G>T (p.Val182Phe) c.534G>T c.295G>T (p.Val99Phe) c.343G>T (p.Val115Phe) c.418G>T (p.Val140Phe) c.141G>T n.729G>T c.553G>T (p.Val185Phe) | |
| 4 | g.6291281T>A | CA356171999 | WFS1 | c.545T>A (p.Val182Asp) c.535T>A c.296T>A (p.Val99Asp) c.344T>A (p.Val115Asp) c.419T>A (p.Val140Asp) c.142T>A n.730T>A c.554T>A (p.Val185Asp) | |
| 4 | g.6291281T>C | CA356171998 | WFS1 | c.545T>C (p.Val182Ala) c.535T>C c.296T>C (p.Val99Ala) c.344T>C (p.Val115Ala) c.419T>C (p.Val140Ala) c.142T>C n.730T>C c.554T>C (p.Val185Ala) | |
| 4 | g.6291281T>G | CA356171997 | WFS1 | c.545T>G (p.Val182Gly) c.535T>G c.296T>G (p.Val99Gly) c.344T>G (p.Val115Gly) c.419T>G (p.Val140Gly) c.142T>G n.730T>G c.554T>G (p.Val185Gly) | |
| 4 | g.6291282C>A | CA438210977 | WFS1 | c.546C>A (p.Val182=) c.536C>A c.297C>A (p.Val99=) c.345C>A (p.Val115=) c.420C>A (p.Val140=) c.143C>A n.731C>A c.555C>A (p.Val185=) | gnomAD v4 |
| 4 | g.6291282C= | CA1435768603 | WFS1 | c.546C= (p.Val182=) c.536C= c.297C= (p.Val99=) c.345C= (p.Val115=) c.420C= (p.Val140=) c.143C= n.731C= c.555C= (p.Val185=) | |
| 4 | g.6291282C>G | CA438210978 | WFS1 | c.546C>G (p.Val182=) c.536C>G c.297C>G (p.Val99=) c.345C>G (p.Val115=) c.420C>G (p.Val140=) c.143C>G n.731C>G c.555C>G (p.Val185=) | |
| 4 | g.6291282C>T | CA438210979 | WFS1 | c.546C>T (p.Val182=) c.536C>T c.297C>T (p.Val99=) c.345C>T (p.Val115=) c.420C>T (p.Val140=) c.143C>T n.731C>T c.555C>T (p.Val185=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291283A= | CA1435768604 | WFS1 | c.547A= (p.Met183=) c.537A= c.298A= (p.Met100=) c.346A= (p.Met116=) c.421A= (p.Met141=) c.144A= n.732A= c.556A= (p.Met186=) | |
| 4 | g.6291283A>C | CA356172000 | WFS1 | c.547A>C (p.Met183Leu) c.537A>C c.298A>C (p.Met100Leu) c.346A>C (p.Met116Leu) c.421A>C (p.Met141Leu) c.144A>C n.732A>C c.556A>C (p.Met186Leu) | |
| 4 | g.6291283A>G | CA356172002 | WFS1 | c.547A>G (p.Met183Val) c.537A>G c.298A>G (p.Met100Val) c.346A>G (p.Met116Val) c.421A>G (p.Met141Val) c.144A>G n.732A>G c.556A>G (p.Met186Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291283A>T | CA356172001 | WFS1 | c.547A>T (p.Met183Leu) c.537A>T c.298A>T (p.Met100Leu) c.346A>T (p.Met116Leu) c.421A>T (p.Met141Leu) c.144A>T n.732A>T c.556A>T (p.Met186Leu) | |
| 4 | g.6291284T>A | CA356172003 | WFS1 | c.548T>A (p.Met183Lys) c.538T>A c.299T>A (p.Met100Lys) c.347T>A (p.Met116Lys) c.422T>A (p.Met141Lys) c.145T>A n.733T>A c.557T>A (p.Met186Lys) | |
| 4 | g.6291284T>C | CA91794576 | WFS1 | c.548T>C (p.Met183Thr) c.538T>C c.299T>C (p.Met100Thr) c.347T>C (p.Met116Thr) c.422T>C (p.Met141Thr) c.145T>C n.733T>C c.557T>C (p.Met186Thr) | dbSNP gnomAD v4 |
| 4 | g.6291284T>G | CA356172004 | WFS1 | c.548T>G (p.Met183Arg) c.538T>G c.299T>G (p.Met100Arg) c.347T>G (p.Met116Arg) c.422T>G (p.Met141Arg) c.145T>G n.733T>G c.557T>G (p.Met186Arg) | |
| 4 | g.6291284T= | CA1435768605 | WFS1 | c.548T= (p.Met183=) c.538T= c.299T= (p.Met100=) c.347T= (p.Met116=) c.422T= (p.Met141=) c.145T= n.733T= c.557T= (p.Met186=) | |
| 4 | g.6291285G>A | CA356172005 | WFS1 | c.549G>A (p.Met183Ile) c.539G>A c.300G>A (p.Met100Ile) c.348G>A (p.Met116Ile) c.423G>A (p.Met141Ile) c.146G>A n.734G>A c.558G>A (p.Met186Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291285G>C | CA356172006 | WFS1 | c.549G>C (p.Met183Ile) c.539G>C c.300G>C (p.Met100Ile) c.348G>C (p.Met116Ile) c.423G>C (p.Met141Ile) c.146G>C n.734G>C c.558G>C (p.Met186Ile) | |
| 4 | g.6291285G= | CA1435768606 | WFS1 | c.549G= (p.Met183=) c.539G= c.300G= (p.Met100=) c.348G= (p.Met116=) c.423G= (p.Met141=) c.146G= n.734G= c.558G= (p.Met186=) | |
| 4 | g.6291285G>T | CA356172007 | WFS1 | c.549G>T (p.Met183Ile) c.539G>T c.300G>T (p.Met100Ile) c.348G>T (p.Met116Ile) c.423G>T (p.Met141Ile) c.146G>T n.734G>T c.558G>T (p.Met186Ile) | |
| 4 | g.6291286T>A | CA356172008 | WFS1 | c.550T>A (p.Tyr184Asn) c.540T>A c.301T>A (p.Tyr101Asn) c.349T>A (p.Tyr117Asn) c.424T>A (p.Tyr142Asn) c.147T>A n.735T>A c.559T>A (p.Tyr187Asn) | |
| 4 | g.6291286T>C | CA356172009 | WFS1 | c.550T>C (p.Tyr184His) c.540T>C c.301T>C (p.Tyr101His) c.349T>C (p.Tyr117His) c.424T>C (p.Tyr142His) c.147T>C n.735T>C c.559T>C (p.Tyr187His) | |
| 4 | g.6291286T>G | CA356172010 | WFS1 | c.550T>G (p.Tyr184Asp) c.540T>G c.301T>G (p.Tyr101Asp) c.349T>G (p.Tyr117Asp) c.424T>G (p.Tyr142Asp) c.147T>G n.735T>G c.559T>G (p.Tyr187Asp) | |
| 4 | g.6291287A>C | CA356172011 | WFS1 | c.551A>C (p.Tyr184Ser) c.541A>C c.302A>C (p.Tyr101Ser) c.350A>C (p.Tyr117Ser) c.425A>C (p.Tyr142Ser) c.148A>C n.736A>C c.560A>C (p.Tyr187Ser) | |
| 4 | g.6291287A>G | CA356172012 | WFS1 | c.551A>G (p.Tyr184Cys) c.541A>G c.302A>G (p.Tyr101Cys) c.350A>G (p.Tyr117Cys) c.425A>G (p.Tyr142Cys) c.148A>G n.736A>G c.560A>G (p.Tyr187Cys) | |
| 4 | g.6291287A>T | CA356172013 | WFS1 | c.551A>T (p.Tyr184Phe) c.541A>T c.302A>T (p.Tyr101Phe) c.350A>T (p.Tyr117Phe) c.425A>T (p.Tyr142Phe) c.148A>T n.736A>T c.560A>T (p.Tyr187Phe) | gnomAD v4 |
| 4 | g.6291288C>A | CA356172014 | WFS1 | c.552C>A (p.Tyr184Ter) c.542C>A c.303C>A (p.Tyr101Ter) c.351C>A (p.Tyr117Ter) c.426C>A (p.Tyr142Ter) c.149C>A n.737C>A c.561C>A (p.Tyr187Ter) | |
| 4 | g.6291288C= | CA1435768607 | WFS1 | c.552C= (p.Tyr184=) c.542C= c.303C= (p.Tyr101=) c.351C= (p.Tyr117=) c.426C= (p.Tyr142=) c.149C= n.737C= c.561C= (p.Tyr187=) | |
| 4 | g.6291288C>G | CA2838935 | WFS1 | c.552C>G (p.Tyr184Ter) c.542C>G c.303C>G (p.Tyr101Ter) c.351C>G (p.Tyr117Ter) c.426C>G (p.Tyr142Ter) c.149C>G n.737C>G c.561C>G (p.Tyr187Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291288C>T | CA438210980 | WFS1 | c.552C>T (p.Tyr184=) c.542C>T c.303C>T (p.Tyr101=) c.351C>T (p.Tyr117=) c.426C>T (p.Tyr142=) c.149C>T n.737C>T c.561C>T (p.Tyr187=) | |
| 4 | g.6291289T>A | CA356172017 | WFS1 | c.553T>A (p.Trp185Arg) c.543T>A c.304T>A (p.Trp102Arg) c.352T>A (p.Trp118Arg) c.427T>A (p.Trp143Arg) c.150T>A n.738T>A c.562T>A (p.Trp188Arg) | |
| 4 | g.6291289T>C | CA356172016 | WFS1 | c.553T>C (p.Trp185Arg) c.543T>C c.304T>C (p.Trp102Arg) c.352T>C (p.Trp118Arg) c.427T>C (p.Trp143Arg) c.150T>C n.738T>C c.562T>C (p.Trp188Arg) | |
| 4 | g.6291289T>G | CA356172015 | WFS1 | c.553T>G (p.Trp185Gly) c.543T>G c.304T>G (p.Trp102Gly) c.352T>G (p.Trp118Gly) c.427T>G (p.Trp143Gly) c.150T>G n.738T>G c.562T>G (p.Trp188Gly) | |
| 4 | g.6291289_6291293dup | CA2669825847 | WFS1 | c.553_557dup (p.Lys186AsnfsTer?) c.543_547dup c.304_308dup (p.Lys103AsnfsTer?) c.352_356dup (p.Lys119AsnfsTer?) c.427_431dup (p.Lys144AsnfsTer?) c.150_154dup n.738_742dup c.562_566dup (p.Lys189AsnfsTer?) | gnomAD v4 |
| 4 | g.6291290G>A | CA2838936 | WFS1 | c.554G>A (p.Trp185Ter) c.544G>A c.305G>A (p.Trp102Ter) c.353G>A (p.Trp118Ter) c.428G>A (p.Trp143Ter) c.151G>A n.739G>A c.563G>A (p.Trp188Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291290G>C | CA356172018 | WFS1 | c.554G>C (p.Trp185Ser) c.544G>C c.305G>C (p.Trp102Ser) c.353G>C (p.Trp118Ser) c.428G>C (p.Trp143Ser) c.151G>C n.739G>C c.563G>C (p.Trp188Ser) | |
| 4 | g.6291290G= | CA1435768608 | WFS1 | c.554G= (p.Trp185=) c.544G= c.305G= (p.Trp102=) c.353G= (p.Trp118=) c.428G= (p.Trp143=) c.151G= n.739G= c.563G= (p.Trp188=) | |
| 4 | g.6291290G>T | CA356172019 | WFS1 | c.554G>T (p.Trp185Leu) c.544G>T c.305G>T (p.Trp102Leu) c.353G>T (p.Trp118Leu) c.428G>T (p.Trp143Leu) c.151G>T n.739G>T c.563G>T (p.Trp188Leu) | |
| 4 | g.6291291G>A | CA356172020 | WFS1 | c.555G>A (p.Trp185Ter) c.545G>A c.306G>A (p.Trp102Ter) c.354G>A (p.Trp118Ter) c.429G>A (p.Trp143Ter) c.152G>A n.740G>A c.564G>A (p.Trp188Ter) | |
| 4 | g.6291291G>C | CA356172021 | WFS1 | c.555G>C (p.Trp185Cys) c.545G>C c.306G>C (p.Trp102Cys) c.354G>C (p.Trp118Cys) c.429G>C (p.Trp143Cys) c.152G>C n.740G>C c.564G>C (p.Trp188Cys) | |
| 4 | g.6291291G>T | CA356172022 | WFS1 | c.555G>T (p.Trp185Cys) c.545G>T c.306G>T (p.Trp102Cys) c.354G>T (p.Trp118Cys) c.429G>T (p.Trp143Cys) c.152G>T n.740G>T c.564G>T (p.Trp188Cys) | |
| 4 | g.6291292A>C | CA356172023 | WFS1 | c.556A>C (p.Lys186Gln) c.546A>C c.307A>C (p.Lys103Gln) c.355A>C (p.Lys119Gln) c.430A>C (p.Lys144Gln) c.153A>C n.741A>C c.565A>C (p.Lys189Gln) | gnomAD v4 |
| 4 | g.6291292A>G | CA356172024 | WFS1 | c.556A>G (p.Lys186Glu) c.546A>G c.307A>G (p.Lys103Glu) c.355A>G (p.Lys119Glu) c.430A>G (p.Lys144Glu) c.153A>G n.741A>G c.565A>G (p.Lys189Glu) | |
| 4 | g.6291292A>T | CA356172025 | WFS1 | c.556A>T (p.Lys186Ter) c.546A>T c.307A>T (p.Lys103Ter) c.355A>T (p.Lys119Ter) c.430A>T (p.Lys144Ter) c.153A>T n.741A>T c.565A>T (p.Lys189Ter) | gnomAD v4 |
| 4 | g.6291293A>C | CA356172026 | WFS1 | c.557A>C (p.Lys186Thr) c.547A>C c.308A>C (p.Lys103Thr) c.356A>C (p.Lys119Thr) c.431A>C (p.Lys144Thr) c.154A>C n.742A>C c.566A>C (p.Lys189Thr) | |
| 4 | g.6291293A>G | CA356172027 | WFS1 | c.557A>G (p.Lys186Arg) c.547A>G c.308A>G (p.Lys103Arg) c.356A>G (p.Lys119Arg) c.431A>G (p.Lys144Arg) c.154A>G n.742A>G c.566A>G (p.Lys189Arg) | |
| 4 | g.6291293A>T | CA356172028 | WFS1 | c.557A>T (p.Lys186Met) c.547A>T c.308A>T (p.Lys103Met) c.356A>T (p.Lys119Met) c.431A>T (p.Lys144Met) c.154A>T n.742A>T c.566A>T (p.Lys189Met) | |
| 4 | g.6291294G>A | CA438210981 | WFS1 | c.558G>A (p.Lys186=) c.548G>A c.309G>A (p.Lys103=) c.357G>A (p.Lys119=) c.432G>A (p.Lys144=) c.155G>A n.743G>A c.567G>A (p.Lys189=) | |
| 4 | g.6291294G>C | CA356172029 | WFS1 | c.558G>C (p.Lys186Asn) c.548G>C c.309G>C (p.Lys103Asn) c.357G>C (p.Lys119Asn) c.432G>C (p.Lys144Asn) c.155G>C n.743G>C c.567G>C (p.Lys189Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291294G= | CA1435768609 | WFS1 | c.558G= (p.Lys186=) c.548G= c.309G= (p.Lys103=) c.357G= (p.Lys119=) c.432G= (p.Lys144=) c.155G= n.743G= c.567G= (p.Lys189=) | |
| 4 | g.6291294G>T | CA356172030 | WFS1 | c.558G>T (p.Lys186Asn) c.548G>T c.309G>T (p.Lys103Asn) c.357G>T (p.Lys119Asn) c.432G>T (p.Lys144Asn) c.155G>T n.743G>T c.567G>T (p.Lys189Asn) | |
| 4 | g.6291295C>A | CA356172031 | WFS1 | c.559C>A (p.Leu187Ile) c.549C>A c.310C>A (p.Leu104Ile) c.358C>A (p.Leu120Ile) c.433C>A (p.Leu145Ile) c.156C>A n.744C>A c.568C>A (p.Leu190Ile) | |
| 4 | g.6291295C= | CA1435768610 | WFS1 | c.559C= (p.Leu187=) c.549C= c.310C= (p.Leu104=) c.358C= (p.Leu120=) c.433C= (p.Leu145=) c.156C= n.744C= c.568C= (p.Leu190=) | |
| 4 | g.6291295C>G | CA356172032 | WFS1 | c.559C>G (p.Leu187Val) c.549C>G c.310C>G (p.Leu104Val) c.358C>G (p.Leu120Val) c.433C>G (p.Leu145Val) c.156C>G n.744C>G c.568C>G (p.Leu190Val) | dbSNP gnomAD v4 |
| 4 | g.6291295C>T | CA356172033 | WFS1 | c.559C>T (p.Leu187Phe) c.549C>T c.310C>T (p.Leu104Phe) c.358C>T (p.Leu120Phe) c.433C>T (p.Leu145Phe) c.156C>T n.744C>T c.568C>T (p.Leu190Phe) | ClinVar |
| 4 | g.6291296T>A | CA356172034 | WFS1 | c.560T>A (p.Leu187His) c.550T>A c.311T>A (p.Leu104His) c.359T>A (p.Leu120His) c.434T>A (p.Leu145His) c.157T>A n.745T>A c.569T>A (p.Leu190His) | |
| 4 | g.6291296T>C | CA356172035 | WFS1 | c.560T>C (p.Leu187Pro) c.550T>C c.311T>C (p.Leu104Pro) c.359T>C (p.Leu120Pro) c.434T>C (p.Leu145Pro) c.157T>C n.745T>C c.569T>C (p.Leu190Pro) | |
| 4 | g.6291296T>G | CA356172036 | WFS1 | c.560T>G (p.Leu187Arg) c.550T>G c.311T>G (p.Leu104Arg) c.359T>G (p.Leu120Arg) c.434T>G (p.Leu145Arg) c.157T>G n.745T>G c.569T>G (p.Leu190Arg) | |
| 4 | g.6291297C>A | CA438210982 | WFS1 | c.561C>A (p.Leu187=) c.551C>A c.312C>A (p.Leu104=) c.360C>A (p.Leu120=) c.435C>A (p.Leu145=) c.158C>A n.746C>A c.570C>A (p.Leu190=) | |
| 4 | g.6291297C>G | CA438210983 | WFS1 | c.561C>G (p.Leu187=) c.551C>G c.312C>G (p.Leu104=) c.360C>G (p.Leu120=) c.435C>G (p.Leu145=) c.158C>G n.746C>G c.570C>G (p.Leu190=) | |
| 4 | g.6291297C>T | CA438210984 | WFS1 | c.561C>T (p.Leu187=) c.551C>T c.312C>T (p.Leu104=) c.360C>T (p.Leu120=) c.435C>T (p.Leu145=) c.158C>T n.746C>T c.570C>T (p.Leu190=) | |
| 4 | g.6291298A>C | CA356172039 | WFS1 | c.562A>C (p.Asn188His) c.552A>C c.313A>C (p.Asn105His) c.361A>C (p.Asn121His) c.436A>C (p.Asn146His) c.159A>C n.747A>C c.571A>C (p.Asn191His) | gnomAD v4 |
| 4 | g.6291298A>G | CA356172037 | WFS1 | c.562A>G (p.Asn188Asp) c.552A>G c.313A>G (p.Asn105Asp) c.361A>G (p.Asn121Asp) c.436A>G (p.Asn146Asp) c.159A>G n.747A>G c.571A>G (p.Asn191Asp) | |
| 4 | g.6291298A>T | CA356172038 | WFS1 | c.562A>T (p.Asn188Tyr) c.552A>T c.313A>T (p.Asn105Tyr) c.361A>T (p.Asn121Tyr) c.436A>T (p.Asn146Tyr) c.159A>T n.747A>T c.571A>T (p.Asn191Tyr) | |
| 4 | g.6291299A>C | CA356172040 | WFS1 | c.563A>C (p.Asn188Thr) c.553A>C c.314A>C (p.Asn105Thr) c.362A>C (p.Asn121Thr) c.437A>C (p.Asn146Thr) c.160A>C n.748A>C c.572A>C (p.Asn191Thr) | |
| 4 | g.6291299A>G | CA356172041 | WFS1 | c.563A>G (p.Asn188Ser) c.553A>G c.314A>G (p.Asn105Ser) c.362A>G (p.Asn121Ser) c.437A>G (p.Asn146Ser) c.160A>G n.748A>G c.572A>G (p.Asn191Ser) | |
| 4 | g.6291299A>T | CA356172042 | WFS1 | c.563A>T (p.Asn188Ile) c.553A>T c.314A>T (p.Asn105Ile) c.362A>T (p.Asn121Ile) c.437A>T (p.Asn146Ile) c.160A>T n.748A>T c.572A>T (p.Asn191Ile) | |
| 4 | g.6291300C>A | CA356172043 | WFS1 | c.564C>A (p.Asn188Lys) c.554C>A c.315C>A (p.Asn105Lys) c.363C>A (p.Asn121Lys) c.438C>A (p.Asn146Lys) c.161C>A n.749C>A c.573C>A (p.Asn191Lys) | gnomAD v4 |
| 4 | g.6291300C>G | CA356172044 | WFS1 | c.564C>G (p.Asn188Lys) c.554C>G c.315C>G (p.Asn105Lys) c.363C>G (p.Asn121Lys) c.438C>G (p.Asn146Lys) c.161C>G n.749C>G c.573C>G (p.Asn191Lys) | |
| 4 | g.6291300C>T | CA438210985 | WFS1 | c.564C>T (p.Asn188=) c.554C>T c.315C>T (p.Asn105=) c.363C>T (p.Asn121=) c.438C>T (p.Asn146=) c.161C>T n.749C>T c.573C>T (p.Asn191=) | |
| 4 | g.6291301C>A | CA356172045 | WFS1 | c.565C>A (p.Pro189Thr) c.555C>A c.316C>A (p.Pro106Thr) c.364C>A (p.Pro122Thr) c.439C>A (p.Pro147Thr) c.162C>A n.750C>A c.574C>A (p.Pro192Thr) | |
| 4 | g.6291301C= | CA1435768611 | WFS1 | c.565C= (p.Pro189=) c.555C= c.316C= (p.Pro106=) c.364C= (p.Pro122=) c.439C= (p.Pro147=) c.162C= n.750C= c.574C= (p.Pro192=) | |
| 4 | g.6291301C>G | CA356172047 | WFS1 | c.565C>G (p.Pro189Ala) c.555C>G c.316C>G (p.Pro106Ala) c.364C>G (p.Pro122Ala) c.439C>G (p.Pro147Ala) c.162C>G n.750C>G c.574C>G (p.Pro192Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291301C>T | CA356172046 | WFS1 | c.565C>T (p.Pro189Ser) c.555C>T c.316C>T (p.Pro106Ser) c.364C>T (p.Pro122Ser) c.439C>T (p.Pro147Ser) c.162C>T n.750C>T c.574C>T (p.Pro192Ser) | COSMIC |
| 4 | g.6291302C>A | CA356172048 | WFS1 | c.566C>A (p.Pro189His) c.556C>A c.317C>A (p.Pro106His) c.365C>A (p.Pro122His) c.440C>A (p.Pro147His) c.163C>A n.751C>A c.575C>A (p.Pro192His) | |
| 4 | g.6291302C>G | CA356172049 | WFS1 | c.566C>G (p.Pro189Arg) c.556C>G c.317C>G (p.Pro106Arg) c.365C>G (p.Pro122Arg) c.440C>G (p.Pro147Arg) c.163C>G n.751C>G c.575C>G (p.Pro192Arg) | |
| 4 | g.6291302C>T | CA356172050 | WFS1 | c.566C>T (p.Pro189Leu) c.556C>T c.317C>T (p.Pro106Leu) c.365C>T (p.Pro122Leu) c.440C>T (p.Pro147Leu) c.163C>T n.751C>T c.575C>T (p.Pro192Leu) | |
| 4 | g.6291303C>A | CA438210986 | WFS1 | c.567C>A (p.Pro189=) c.557C>A c.318C>A (p.Pro106=) c.366C>A (p.Pro122=) c.441C>A (p.Pro147=) c.164C>A n.752C>A c.576C>A (p.Pro192=) | ClinVar dbSNP |
| 4 | g.6291303C= | CA1435768613 | WFS1 | c.567C= (p.Pro189=) c.557C= c.318C= (p.Pro106=) c.366C= (p.Pro122=) c.441C= (p.Pro147=) c.164C= n.752C= c.576C= (p.Pro192=) | |
| 4 | g.6291303C>G | CA438210987 | WFS1 | c.567C>G (p.Pro189=) c.557C>G c.318C>G (p.Pro106=) c.366C>G (p.Pro122=) c.441C>G (p.Pro147=) c.164C>G n.752C>G c.576C>G (p.Pro192=) | gnomAD v4 |
| 4 | g.6291303C>T | CA438210988 | WFS1 | c.567C>T (p.Pro189=) c.557C>T c.318C>T (p.Pro106=) c.366C>T (p.Pro122=) c.441C>T (p.Pro147=) c.164C>T n.752C>T c.576C>T (p.Pro192=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291303_6291306delinsCAAG | CA1435768612 | WFS1 | c.567_570delinsCAAG (p.Pro189=) c.557_560delinsCAAG c.318_321delinsCAAG (p.Pro106=) c.366_369delinsCAAG (p.Pro122=) c.441_444delinsCAAG (p.Pro147=) c.164_167delinsCAAG n.752_755delinsCAAG c.576_579delinsCAAG (p.Pro192=) | |
| 4 | g.6291304A= | CA1435768614 | WFS1 | c.568A= (p.Lys190=) c.558A= c.319A= (p.Lys107=) c.367A= (p.Lys123=) c.442A= (p.Lys148=) c.165A= n.753A= c.577A= (p.Lys193=) | |
| 4 | g.6291304A>C | CA2838939 | WFS1 | c.568A>C (p.Lys190Gln) c.558A>C c.319A>C (p.Lys107Gln) c.367A>C (p.Lys123Gln) c.442A>C (p.Lys148Gln) c.165A>C n.753A>C c.577A>C (p.Lys193Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291304A>G | CA91794577 | WFS1 | c.568A>G (p.Lys190Glu) c.558A>G c.319A>G (p.Lys107Glu) c.367A>G (p.Lys123Glu) c.442A>G (p.Lys148Glu) c.165A>G n.753A>G c.577A>G (p.Lys193Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291304A>T | CA356172051 | WFS1 | c.568A>T (p.Lys190Ter) c.558A>T c.319A>T (p.Lys107Ter) c.367A>T (p.Lys123Ter) c.442A>T (p.Lys148Ter) c.165A>T n.753A>T c.577A>T (p.Lys193Ter) | |
| 4 | g.6291313_6291315dup | CA2838938 | WFS1 | c.577_579dup (p.Lys193_Gln194insLys) c.567_569dup c.328_330dup (p.Lys110_Gln111insLys) c.376_378dup (p.Lys126_Gln127insLys) c.174_176dup n.762_764dup c.586_588dup (p.Lys196_Gln197insLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291313_6291315del | CA2838937 | WFS1 | c.577_579del (p.Lys193del) c.567_569del c.328_330del (p.Lys110del) c.376_378del (p.Lys126del) c.174_176del n.762_764del c.586_588del (p.Lys196del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291305A>C | CA356172052 | WFS1 | c.569A>C (p.Lys190Thr) c.559A>C c.320A>C (p.Lys107Thr) c.368A>C (p.Lys123Thr) c.443A>C (p.Lys148Thr) c.166A>C n.754A>C c.578A>C (p.Lys193Thr) | |
| 4 | g.6291305A>G | CA356172053 | WFS1 | c.569A>G (p.Lys190Arg) c.559A>G c.320A>G (p.Lys107Arg) c.368A>G (p.Lys123Arg) c.443A>G (p.Lys148Arg) c.166A>G n.754A>G c.578A>G (p.Lys193Arg) | gnomAD v4 |
| 4 | g.6291305A>T | CA356172054 | WFS1 | c.569A>T (p.Lys190Met) c.559A>T c.320A>T (p.Lys107Met) c.368A>T (p.Lys123Met) c.443A>T (p.Lys148Met) c.166A>T n.754A>T c.578A>T (p.Lys193Met) | |
| 4 | g.6291306G>A | CA438210989 | WFS1 | c.570G>A (p.Lys190=) c.560G>A c.321G>A (p.Lys107=) c.369G>A (p.Lys123=) c.444G>A (p.Lys148=) c.167G>A n.755G>A c.579G>A (p.Lys193=) | |
| 4 | g.6291306G>C | CA356172055 | WFS1 | c.570G>C (p.Lys190Asn) c.560G>C c.321G>C (p.Lys107Asn) c.369G>C (p.Lys123Asn) c.444G>C (p.Lys148Asn) c.167G>C n.755G>C c.579G>C (p.Lys193Asn) | |
| 4 | g.6291306G>T | CA356172056 | WFS1 | c.570G>T (p.Lys190Asn) c.560G>T c.321G>T (p.Lys107Asn) c.369G>T (p.Lys123Asn) c.444G>T (p.Lys148Asn) c.167G>T n.755G>T c.579G>T (p.Lys193Asn) | |
| 4 | g.6291307A>C | CA356172057 | WFS1 | c.571A>C (p.Lys191Gln) c.561A>C c.322A>C (p.Lys108Gln) c.370A>C (p.Lys124Gln) c.445A>C c.168A>C n.756A>C c.580A>C (p.Lys194Gln) | |
| 4 | g.6291307A>G | CA356172059 | WFS1 | c.571A>G (p.Lys191Glu) c.561A>G c.322A>G (p.Lys108Glu) c.370A>G (p.Lys124Glu) c.445A>G c.168A>G n.756A>G c.580A>G (p.Lys194Glu) | |
| 4 | g.6291307A>T | CA356172058 | WFS1 | c.571A>T (p.Lys191Ter) c.561A>T c.322A>T (p.Lys108Ter) c.370A>T (p.Lys124Ter) c.445A>T c.168A>T n.756A>T c.580A>T (p.Lys194Ter) | |
| 4 | g.6291308A= | CA1435768615 | WFS1 | c.572A= (p.Lys191=) c.562A= c.323A= (p.Lys108=) c.371A= (p.Lys124=) c.446A= c.169A= n.757A= c.581A= (p.Lys194=) | |
| 4 | g.6291308A>C | CA356172060 | WFS1 | c.572A>C (p.Lys191Thr) c.562A>C c.323A>C (p.Lys108Thr) c.371A>C (p.Lys124Thr) c.446A>C c.169A>C n.757A>C c.581A>C (p.Lys194Thr) | |
| 4 | g.6291308A>G | CA2838940 | WFS1 | c.572A>G (p.Lys191Arg) c.562A>G c.323A>G (p.Lys108Arg) c.371A>G (p.Lys124Arg) c.446A>G c.169A>G n.757A>G c.581A>G (p.Lys194Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291308A>T | CA356172061 | WFS1 | c.572A>T (p.Lys191Met) c.562A>T c.323A>T (p.Lys108Met) c.371A>T (p.Lys124Met) c.446A>T c.169A>T n.757A>T c.581A>T (p.Lys194Met) | |
| 4 | g.6291309G>A | CA2838941 | WFS1 | c.573G>A (p.Lys191=) c.563G>A c.324G>A (p.Lys108=) c.372G>A (p.Lys124=) c.170G>A n.758G>A c.582G>A (p.Lys194=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6291309G>C | CA356172062 | WFS1 | c.573G>C (p.Lys191Asn) c.563G>C c.324G>C (p.Lys108Asn) c.372G>C (p.Lys124Asn) c.170G>C n.758G>C c.582G>C (p.Lys194Asn) | |
| 4 | g.6291309G= | CA1435768616 | WFS1 | c.573G= (p.Lys191=) c.563G= c.324G= (p.Lys108=) c.372G= (p.Lys124=) c.170G= n.758G= c.582G= (p.Lys194=) | |
| 4 | g.6291309G>T | CA356172063 | WFS1 | c.573G>T (p.Lys191Asn) c.563G>T c.324G>T (p.Lys108Asn) c.372G>T (p.Lys124Asn) c.170G>T n.758G>T c.582G>T (p.Lys194Asn) | ClinVar dbSNP gnomAD v2 |
| 4 | g.6291310A= | CA1435768617 | WFS1 | c.574A= (p.Lys192=) c.564A= c.325A= (p.Lys109=) c.373A= (p.Lys125=) c.171A= n.759A= c.583A= (p.Lys195=) | |
| 4 | g.6291310A>C | CA356172064 | WFS1 | c.574A>C (p.Lys192Gln) c.564A>C c.325A>C (p.Lys109Gln) c.373A>C (p.Lys125Gln) c.171A>C n.759A>C c.583A>C (p.Lys195Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291310A>G | CA356172065 | WFS1 | c.574A>G (p.Lys192Glu) c.564A>G c.325A>G (p.Lys109Glu) c.373A>G (p.Lys125Glu) c.171A>G n.759A>G c.583A>G (p.Lys195Glu) | |
| 4 | g.6291310A>T | CA356172066 | WFS1 | c.574A>T (p.Lys192Ter) c.564A>T c.325A>T (p.Lys109Ter) c.373A>T (p.Lys125Ter) c.171A>T n.759A>T c.583A>T (p.Lys195Ter) | |
| 4 | g.6291311A= | CA1435768618 | WFS1 | c.575A= (p.Lys192=) c.565A= c.326A= (p.Lys109=) c.374A= (p.Lys125=) c.172A= n.760A= c.584A= (p.Lys195=) | |
| 4 | g.6291311A>C | CA356172067 | WFS1 | c.575A>C (p.Lys192Thr) c.565A>C c.326A>C (p.Lys109Thr) c.374A>C (p.Lys125Thr) c.172A>C n.760A>C c.584A>C (p.Lys195Thr) | dbSNP gnomAD v4 |
| 4 | g.6291311A>G | CA356172068 | WFS1 | c.575A>G (p.Lys192Arg) c.565A>G c.326A>G (p.Lys109Arg) c.374A>G (p.Lys125Arg) c.172A>G n.760A>G c.584A>G (p.Lys195Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291311A>T | CA356172069 | WFS1 | c.575A>T (p.Lys192Met) c.565A>T c.326A>T (p.Lys109Met) c.374A>T (p.Lys125Met) c.172A>T n.760A>T c.584A>T (p.Lys195Met) | |
| 4 | g.6291312G>A | CA438210990 | WFS1 | c.576G>A (p.Lys192=) c.566G>A c.327G>A (p.Lys109=) c.375G>A (p.Lys125=) c.173G>A n.761G>A c.585G>A (p.Lys195=) | |
| 4 | g.6291312G>C | CA356172070 | WFS1 | c.576G>C (p.Lys192Asn) c.566G>C c.327G>C (p.Lys109Asn) c.375G>C (p.Lys125Asn) c.173G>C n.761G>C c.585G>C (p.Lys195Asn) | |
| 4 | g.6291312G= | CA1435768619 | WFS1 | c.576G= (p.Lys192=) c.566G= c.327G= (p.Lys109=) c.375G= (p.Lys125=) c.173G= n.761G= c.585G= (p.Lys195=) | |
| 4 | g.6291312G>T | CA356172071 | WFS1 | c.576G>T (p.Lys192Asn) c.566G>T c.327G>T (p.Lys109Asn) c.375G>T (p.Lys125Asn) c.173G>T n.761G>T c.585G>T (p.Lys195Asn) | |
| 4 | g.6291313A= | CA1435768620 | WFS1 | c.577A= (p.Lys193=) c.567A= c.328A= (p.Lys110=) c.376A= (p.Lys126=) c.174A= n.762A= c.586A= (p.Lys196=) | |
| 4 | g.6291313A>C | CA295799 | WFS1 | c.577A>C (p.Lys193Gln) c.567A>C c.328A>C (p.Lys110Gln) c.376A>C (p.Lys126Gln) c.174A>C n.762A>C c.586A>C (p.Lys196Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291313A>G | CA356172072 | WFS1 | c.577A>G (p.Lys193Glu) c.567A>G c.328A>G (p.Lys110Glu) c.376A>G (p.Lys126Glu) c.174A>G n.762A>G c.586A>G (p.Lys196Glu) | gnomAD v4 |
| 4 | g.6291313A>T | CA356172073 | WFS1 | c.577A>T (p.Lys193Ter) c.567A>T c.328A>T (p.Lys110Ter) c.376A>T (p.Lys126Ter) c.174A>T n.762A>T c.586A>T (p.Lys196Ter) | |
| 4 | g.6291314dup | CA2838942 | WFS1 | c.578dup (p.Gln194AlafsTer?) c.568dup c.329dup (p.Gln111AlafsTer?) c.377dup (p.Gln127AlafsTer?) c.175dup n.763dup c.587dup (p.Gln197AlafsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.6291314A= | CA1435768621 | WFS1 | c.578A= (p.Lys193=) c.568A= c.329A= (p.Lys110=) c.377A= (p.Lys126=) c.175A= n.763A= c.587A= (p.Lys196=) | |
| 4 | g.6291314A>C | CA356172074 | WFS1 | c.578A>C (p.Lys193Thr) c.568A>C c.329A>C (p.Lys110Thr) c.377A>C (p.Lys126Thr) c.175A>C n.763A>C c.587A>C (p.Lys196Thr) | |
| 4 | g.6291314A>G | CA16609250 | WFS1 | c.578A>G (p.Lys193Arg) c.568A>G c.329A>G (p.Lys110Arg) c.377A>G (p.Lys126Arg) c.175A>G n.763A>G c.587A>G (p.Lys196Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291314A>T | CA356172075 | WFS1 | c.578A>T (p.Lys193Met) c.568A>T c.329A>T (p.Lys110Met) c.377A>T (p.Lys126Met) c.175A>T n.763A>T c.587A>T (p.Lys196Met) | |
| 4 | g.6291315_6291316insGAG | CA2838943 | WFS1 | c.579_580insGAG (p.Lys193_Gln194insGlu) c.569_570insGAG c.330_331insGAG (p.Lys110_Gln111insGlu) c.378_379insGAG (p.Lys126_Gln127insGlu) c.176_177insGAG n.764_765insGAG c.588_589insGAG (p.Lys196_Gln197insGlu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291315G>A | CA438210991 | WFS1 | c.579G>A (p.Lys193=) c.569G>A c.330G>A (p.Lys110=) c.378G>A (p.Lys126=) c.176G>A n.764G>A c.588G>A (p.Lys196=) | |
| 4 | g.6291315G>C | CA356172076 | WFS1 | c.579G>C (p.Lys193Asn) c.569G>C c.330G>C (p.Lys110Asn) c.378G>C (p.Lys126Asn) c.176G>C n.764G>C c.588G>C (p.Lys196Asn) | |
| 4 | g.6291315G>T | CA356172077 | WFS1 | c.579G>T (p.Lys193Asn) c.569G>T c.330G>T (p.Lys110Asn) c.378G>T (p.Lys126Asn) c.176G>T n.764G>T c.588G>T (p.Lys196Asn) | |
| 4 | g.6291316C>A | CA356172078 | WFS1 | c.580C>A (p.Gln194Lys) c.570C>A c.331C>A (p.Gln111Lys) c.379C>A (p.Gln127Lys) c.177C>A n.765C>A c.589C>A (p.Gln197Lys) | gnomAD v4 |
| 4 | g.6291316C>G | CA356172079 | WFS1 | c.580C>G (p.Gln194Glu) c.570C>G c.331C>G (p.Gln111Glu) c.379C>G (p.Gln127Glu) c.177C>G n.765C>G c.589C>G (p.Gln197Glu) | gnomAD v4 |
| 4 | g.6291316C>T | CA356172080 | WFS1 | c.580C>T (p.Gln194Ter) c.570C>T c.331C>T (p.Gln111Ter) c.379C>T (p.Gln127Ter) c.177C>T n.765C>T c.589C>T (p.Gln197Ter) | gnomAD v4 |
| 4 | g.6291317A>C | CA356172081 | WFS1 | c.581A>C (p.Gln194Pro) c.571A>C c.332A>C (p.Gln111Pro) c.380A>C (p.Gln127Pro) c.178A>C n.766A>C c.590A>C (p.Gln197Pro) | |
| 4 | g.6291317A>G | CA356172083 | WFS1 | c.581A>G (p.Gln194Arg) c.571A>G c.332A>G (p.Gln111Arg) c.380A>G (p.Gln127Arg) c.178A>G n.766A>G c.590A>G (p.Gln197Arg) | |
| 4 | g.6291317A>T | CA356172082 | WFS1 | c.581A>T (p.Gln194Leu) c.571A>T c.332A>T (p.Gln111Leu) c.380A>T (p.Gln127Leu) c.178A>T n.766A>T c.590A>T (p.Gln197Leu) | |
| 4 | g.6291318G>A | CA438210992 | WFS1 | c.582G>A (p.Gln194=) c.572G>A c.333G>A (p.Gln111=) c.381G>A (p.Gln127=) c.179G>A n.767G>A c.591G>A (p.Gln197=) | gnomAD v4 |
| 4 | g.6291318G>C | CA356172084 | WFS1 | c.582G>C (p.Gln194His) c.572G>C c.333G>C (p.Gln111His) c.381G>C (p.Gln127His) c.179G>C n.767G>C c.591G>C (p.Gln197His) | dbSNP gnomAD v2 |
| 4 | g.6291318G= | CA1435768622 | WFS1 | c.582G= (p.Gln194=) c.572G= c.333G= (p.Gln111=) c.381G= (p.Gln127=) c.179G= n.767G= c.591G= (p.Gln197=) | |
| 4 | g.6291318G>T | CA356172085 | WFS1 | c.582G>T (p.Gln194His) c.572G>T c.333G>T (p.Gln111His) c.381G>T (p.Gln127His) c.179G>T n.767G>T c.591G>T (p.Gln197His) | COSMIC |
| 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 |