| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6300768_6300779del | CA2580610797 | WFS1 | c.1009_1020del (p.Asn337_Ile340del) c.950_961del c.973_984del (p.Asn325_Ile328del) c.724_735del (p.Asn242_Ile245del) c.661-29_661-18del (n.661-29_661-18del) c.606_617del n.1158_1169del n.531_542del c.982_993del (p.Asn328_Ile331del) | |
| 4 | g.6300765_6300774delinsATCAACGCGC | CA1435772137 | WFS1 | c.1006_1015delinsATCAACGCGC (p.Ile336=) c.947_956delinsATCAACGCGC c.970_979delinsATCAACGCGC (p.Ile324=) c.721_730delinsATCAACGCGC (p.Ile241=) c.661-32_661-23delinsATCAACGCGC (n.661-32_661-23delinsATCAACGCGC) c.603_612delinsATCAACGCGC n.1155_1164delinsATCAACGCGC n.528_537delinsATCAACGCGC c.979_988delinsATCAACGCGC (p.Ile327=) | |
| 4 | g.6300769_6300777del | CA1435772140 | WFS1 | c.1010_1018del (p.Asn337_Leu339del) c.951_959del c.974_982del (p.Asn325_Leu327del) c.725_733del (p.Asn242_Leu244del) c.661-28_661-20del (n.661-28_661-20del) c.607_615del n.1159_1167del n.532_540del c.983_991del (p.Asn328_Leu330del) | dbSNP |
| 4 | g.6300774C>A | CA91796219 | WFS1 | c.1015C>A (p.Leu339Ile) c.956C>A c.979C>A (p.Leu327Ile) c.730C>A (p.Leu244Ile) c.661-23C>A (n.661-23C>A) c.612C>A n.1164C>A n.537C>A c.988C>A (p.Leu330Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300774C= | CA1435772156 | WFS1 | c.1015C= (p.Leu339=) c.956C= c.979C= (p.Leu327=) c.730C= (p.Leu244=) c.661-23C= (n.661-23C=) c.612C= n.1164C= n.537C= c.988C= (p.Leu330=) | |
| 4 | g.6300774C>G | CA356174000 | WFS1 | c.1015C>G (p.Leu339Val) c.956C>G c.979C>G (p.Leu327Val) c.730C>G (p.Leu244Val) c.661-23C>G (n.661-23C>G) c.612C>G n.1164C>G n.537C>G c.988C>G (p.Leu330Val) | gnomAD v4 |
| 4 | g.6300774C>T | CA356174001 | WFS1 | c.1015C>T (p.Leu339Phe) c.956C>T c.979C>T (p.Leu327Phe) c.730C>T (p.Leu244Phe) c.661-23C>T (n.661-23C>T) c.612C>T n.1164C>T n.537C>T c.988C>T (p.Leu330Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300775T>A | CA356174003 | WFS1 | c.1016T>A (p.Leu339His) c.957T>A c.980T>A (p.Leu327His) c.731T>A (p.Leu244His) c.661-22T>A (n.661-22T>A) c.613T>A n.1165T>A n.538T>A c.989T>A (p.Leu330His) | |
| 4 | g.6300775T>C | CA356174004 | WFS1 | c.1016T>C (p.Leu339Pro) c.957T>C c.980T>C (p.Leu327Pro) c.731T>C (p.Leu244Pro) c.661-22T>C (n.661-22T>C) c.613T>C n.1165T>C n.538T>C c.989T>C (p.Leu330Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300775T>G | CA356174002 | WFS1 | c.1016T>G (p.Leu339Arg) c.957T>G c.980T>G (p.Leu327Arg) c.731T>G (p.Leu244Arg) c.661-22T>G (n.661-22T>G) c.613T>G n.1165T>G n.538T>G c.989T>G (p.Leu330Arg) | |
| 4 | g.6300775T= | CA1435772158 | WFS1 | c.1016T= (p.Leu339=) c.957T= c.980T= (p.Leu327=) c.731T= (p.Leu244=) c.661-22T= (n.661-22T=) c.613T= n.1165T= n.538T= c.989T= (p.Leu330=) | |
| 4 | g.6300775_6300805delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC | CA1435772159 | WFS1 | c.1016_1046delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu339=) c.957_987delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC c.980_1010delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu327=) c.731_761delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu244=) c.661-22_669delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC c.613_643delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC n.1165_1195delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC n.538_568delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC c.989_1019delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu330=) | |
| 4 | g.6300776C>A | CA438211497 | WFS1 | c.1017C>A (p.Leu339=) c.958C>A c.981C>A (p.Leu327=) c.732C>A (p.Leu244=) c.661-21C>A (n.661-21C>A) c.614C>A n.1166C>A n.539C>A c.990C>A (p.Leu330=) | |
| 4 | g.6300776C= | CA1435772161 | WFS1 | c.1017C= (p.Leu339=) c.958C= c.981C= (p.Leu327=) c.732C= (p.Leu244=) c.661-21C= (n.661-21C=) c.614C= n.1166C= n.539C= c.990C= (p.Leu330=) | |
| 4 | g.6300776C>G | CA438211498 | WFS1 | c.1017C>G (p.Leu339=) c.958C>G c.981C>G (p.Leu327=) c.732C>G (p.Leu244=) c.661-21C>G (n.661-21C>G) c.614C>G n.1166C>G n.539C>G c.990C>G (p.Leu330=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300776C>T | CA438211499 | WFS1 | c.1017C>T (p.Leu339=) c.958C>T c.981C>T (p.Leu327=) c.732C>T (p.Leu244=) c.661-21C>T (n.661-21C>T) c.614C>T n.1166C>T n.539C>T c.990C>T (p.Leu330=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300780_6300809del | CA1058891029 | WFS1 | c.1021_1050del (p.Phe341_Ile350del) c.962_991del c.985_1014del (p.Phe329_Ile338del) c.736_765del (p.Phe246_Ile255del) c.661-17_673del c.618_647del n.1170_1199del c.994_1023del (p.Phe332_Ile341del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300777A= | CA1435772163 | WFS1 | c.1018A= (p.Ile340=) c.959A= c.982A= (p.Ile328=) c.733A= (p.Ile245=) c.661-20A= (n.661-20A=) c.615A= n.1167A= n.540A= c.991A= (p.Ile331=) | |
| 4 | g.6300777A>C | CA356174005 | WFS1 | c.1018A>C (p.Ile340Leu) c.959A>C c.982A>C (p.Ile328Leu) c.733A>C (p.Ile245Leu) c.661-20A>C (n.661-20A>C) c.615A>C n.1167A>C n.540A>C c.991A>C (p.Ile331Leu) | |
| 4 | g.6300777A>G | CA356174006 | WFS1 | c.1018A>G (p.Ile340Val) c.959A>G c.982A>G (p.Ile328Val) c.733A>G (p.Ile245Val) c.661-20A>G (n.661-20A>G) c.615A>G n.1167A>G n.540A>G c.991A>G (p.Ile331Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300777A>T | CA356174007 | WFS1 | c.1018A>T (p.Ile340Phe) c.959A>T c.982A>T (p.Ile328Phe) c.733A>T (p.Ile245Phe) c.661-20A>T (n.661-20A>T) c.615A>T n.1167A>T n.540A>T c.991A>T (p.Ile331Phe) | gnomAD v4 |
| 4 | g.6300778T>A | CA356174008 | WFS1 | c.1019T>A (p.Ile340Asn) c.960T>A c.983T>A (p.Ile328Asn) c.734T>A (p.Ile245Asn) c.661-19T>A (n.661-19T>A) c.616T>A n.1168T>A n.541T>A c.992T>A (p.Ile331Asn) | |
| 4 | g.6300778T>C | CA356174009 | WFS1 | c.1019T>C (p.Ile340Thr) c.960T>C c.983T>C (p.Ile328Thr) c.734T>C (p.Ile245Thr) c.661-19T>C (n.661-19T>C) c.616T>C n.1168T>C n.541T>C c.992T>C (p.Ile331Thr) | |
| 4 | g.6300778T>G | CA356174010 | WFS1 | c.1019T>G (p.Ile340Ser) c.960T>G c.983T>G (p.Ile328Ser) c.734T>G (p.Ile245Ser) c.661-19T>G (n.661-19T>G) c.616T>G n.1168T>G n.541T>G c.992T>G (p.Ile331Ser) | |
| 4 | g.6300778_6300788del | CA2669843412 | WFS1 | c.1019_1029del (p.Ile340AsnfsTer?) c.960_970del c.983_993del (p.Ile328AsnfsTer?) c.734_744del (p.Ile245AsnfsTer?) c.661-19_661-9del (n.661-19_661-9del) c.616_626del n.1168_1178del n.541_551del c.992_1002del (p.Ile331AsnfsTer?) | gnomAD v4 |
| 4 | g.6300786_6300788del | CA2669843411 | WFS1 | c.1027_1029del (p.Phe343del) c.968_970del c.991_993del (p.Phe331del) c.742_744del (p.Phe248del) c.661-11_661-9del (n.661-11_661-9del) c.624_626del n.1176_1178del n.549_551del c.1000_1002del (p.Phe334del) | gnomAD v4 |
| 4 | g.6300779C>A | CA438211500 | WFS1 | c.1020C>A (p.Ile340=) c.961C>A c.984C>A (p.Ile328=) c.735C>A (p.Ile245=) c.661-18C>A (n.661-18C>A) c.617C>A n.1169C>A n.542C>A c.993C>A (p.Ile331=) | |
| 4 | g.6300779C= | CA1435772165 | WFS1 | c.1020C= (p.Ile340=) c.961C= c.984C= (p.Ile328=) c.735C= (p.Ile245=) c.661-18C= (n.661-18C=) c.617C= n.1169C= n.542C= c.993C= (p.Ile331=) | |
| 4 | g.6300779C>G | CA356174011 | WFS1 | c.1020C>G (p.Ile340Met) c.961C>G c.984C>G (p.Ile328Met) c.735C>G (p.Ile245Met) c.661-18C>G (n.661-18C>G) c.617C>G n.1169C>G n.542C>G c.993C>G (p.Ile331Met) | |
| 4 | g.6300779C>T | CA438211501 | WFS1 | c.1020C>T (p.Ile340=) c.961C>T c.984C>T (p.Ile328=) c.735C>T (p.Ile245=) c.661-18C>T (n.661-18C>T) c.617C>T n.1169C>T n.542C>T c.993C>T (p.Ile331=) | dbSNP gnomAD v4 |
| 4 | g.6300780T>A | CA2839181 | WFS1 | c.1021T>A (p.Phe341Ile) c.962T>A c.985T>A (p.Phe329Ile) c.736T>A (p.Phe246Ile) c.661-17T>A (n.661-17T>A) c.618T>A n.1170T>A n.543T>A c.994T>A (p.Phe332Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300780T>C | CA356174012 | WFS1 | c.1021T>C (p.Phe341Leu) c.962T>C c.985T>C (p.Phe329Leu) c.736T>C (p.Phe246Leu) c.661-17T>C (n.661-17T>C) c.618T>C n.1170T>C n.543T>C c.994T>C (p.Phe332Leu) | dbSNP gnomAD v2 |
| 4 | g.6300780T>G | CA356174013 | WFS1 | c.1021T>G (p.Phe341Val) c.962T>G c.985T>G (p.Phe329Val) c.736T>G (p.Phe246Val) c.661-17T>G (n.661-17T>G) c.618T>G n.1170T>G n.543T>G c.994T>G (p.Phe332Val) | |
| 4 | g.6300780T= | CA1435772167 | WFS1 | c.1021T= (p.Phe341=) c.962T= c.985T= (p.Phe329=) c.736T= (p.Phe246=) c.661-17T= (n.661-17T=) c.618T= n.1170T= n.543T= c.994T= (p.Phe332=) | |
| 4 | g.6300781T>A | CA356174014 | WFS1 | c.1022T>A (p.Phe341Tyr) c.963T>A c.986T>A (p.Phe329Tyr) c.737T>A (p.Phe246Tyr) c.661-16T>A (n.661-16T>A) c.619T>A n.1171T>A n.544T>A c.995T>A (p.Phe332Tyr) | |
| 4 | g.6300781T>C | CA356174015 | WFS1 | c.1022T>C (p.Phe341Ser) c.963T>C c.986T>C (p.Phe329Ser) c.737T>C (p.Phe246Ser) c.661-16T>C (n.661-16T>C) c.619T>C n.1171T>C n.544T>C c.995T>C (p.Phe332Ser) | |
| 4 | g.6300781T>G | CA356174016 | WFS1 | c.1022T>G (p.Phe341Cys) c.963T>G c.986T>G (p.Phe329Cys) c.737T>G (p.Phe246Cys) c.661-16T>G (n.661-16T>G) c.619T>G n.1171T>G n.544T>G c.995T>G (p.Phe332Cys) | |
| 4 | g.6300782C>A | CA356174017 | WFS1 | c.1023C>A (p.Phe341Leu) c.964C>A c.987C>A (p.Phe329Leu) c.738C>A (p.Phe246Leu) c.661-15C>A (n.661-15C>A) c.620C>A n.1172C>A n.545C>A c.996C>A (p.Phe332Leu) | |
| 4 | g.6300782C= | CA1435772169 | WFS1 | c.1023C= (p.Phe341=) c.964C= c.987C= (p.Phe329=) c.738C= (p.Phe246=) c.661-15C= (n.661-15C=) c.620C= n.1172C= n.545C= c.996C= (p.Phe332=) | |
| 4 | g.6300782C>G | CA356174018 | WFS1 | c.1023C>G (p.Phe341Leu) c.964C>G c.987C>G (p.Phe329Leu) c.738C>G (p.Phe246Leu) c.661-15C>G (n.661-15C>G) c.620C>G n.1172C>G n.545C>G c.996C>G (p.Phe332Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6300782C>T | CA2839182 | WFS1 | c.1023C>T (p.Phe341=) c.964C>T c.987C>T (p.Phe329=) c.738C>T (p.Phe246=) c.661-15C>T (n.661-15C>T) c.620C>T n.1172C>T n.545C>T c.996C>T (p.Phe332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300783T>A | CA356174019 | WFS1 | c.1024T>A (p.Phe342Ile) c.965T>A c.988T>A (p.Phe330Ile) c.739T>A (p.Phe247Ile) c.661-14T>A (n.661-14T>A) c.621T>A n.1173T>A n.546T>A c.997T>A (p.Phe333Ile) | gnomAD v4 |
| 4 | g.6300783T>C | CA356174020 | WFS1 | c.1024T>C (p.Phe342Leu) c.965T>C c.988T>C (p.Phe330Leu) c.739T>C (p.Phe247Leu) c.661-14T>C (n.661-14T>C) c.621T>C n.1173T>C n.546T>C c.997T>C (p.Phe333Leu) | |
| 4 | g.6300783T>G | CA356174021 | WFS1 | c.1024T>G (p.Phe342Val) c.965T>G c.988T>G (p.Phe330Val) c.739T>G (p.Phe247Val) c.661-14T>G (n.661-14T>G) c.621T>G n.1173T>G n.546T>G c.997T>G (p.Phe333Val) | |
| 4 | g.6300784T>A | CA356174022 | WFS1 | c.1025T>A (p.Phe342Tyr) c.966T>A c.989T>A (p.Phe330Tyr) c.740T>A (p.Phe247Tyr) c.661-13T>A (n.661-13T>A) c.622T>A n.1174T>A n.547T>A c.998T>A (p.Phe333Tyr) | |
| 4 | g.6300784T>C | CA356174023 | WFS1 | c.1025T>C (p.Phe342Ser) c.966T>C c.989T>C (p.Phe330Ser) c.740T>C (p.Phe247Ser) c.661-13T>C (n.661-13T>C) c.622T>C n.1174T>C n.547T>C c.998T>C (p.Phe333Ser) | |
| 4 | g.6300784T>G | CA356174024 | WFS1 | c.1025T>G (p.Phe342Cys) c.966T>G c.989T>G (p.Phe330Cys) c.740T>G (p.Phe247Cys) c.661-13T>G (n.661-13T>G) c.622T>G n.1174T>G n.547T>G c.998T>G (p.Phe333Cys) | |
| 4 | g.6300785C>A | CA356174025 | WFS1 | c.1026C>A (p.Phe342Leu) c.967C>A c.990C>A (p.Phe330Leu) c.741C>A (p.Phe247Leu) c.661-12C>A (n.661-12C>A) c.623C>A n.1175C>A n.548C>A c.999C>A (p.Phe333Leu) | |
| 4 | g.6300785C= | CA1435772171 | WFS1 | c.1026C= (p.Phe342=) c.967C= c.990C= (p.Phe330=) c.741C= (p.Phe247=) c.661-12C= (n.661-12C=) c.623C= n.1175C= n.548C= c.999C= (p.Phe333=) | |
| 4 | g.6300785C>G | CA356174026 | WFS1 | c.1026C>G (p.Phe342Leu) c.967C>G c.990C>G (p.Phe330Leu) c.741C>G (p.Phe247Leu) c.661-12C>G (n.661-12C>G) c.623C>G n.1175C>G n.548C>G c.999C>G (p.Phe333Leu) | gnomAD v4 |
| 4 | g.6300785C>T | CA438211502 | WFS1 | c.1026C>T (p.Phe342=) c.967C>T c.990C>T (p.Phe330=) c.741C>T (p.Phe247=) c.661-12C>T (n.661-12C>T) c.623C>T n.1175C>T n.548C>T c.999C>T (p.Phe333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300786T>A | CA2839183 | WFS1 | c.1027T>A (p.Phe343Ile) c.968T>A c.991T>A (p.Phe331Ile) c.742T>A (p.Phe248Ile) c.661-11T>A (n.661-11T>A) c.624T>A n.1176T>A n.549T>A c.1000T>A (p.Phe334Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300786T>C | CA356174027 | WFS1 | c.1027T>C (p.Phe343Leu) c.968T>C c.991T>C (p.Phe331Leu) c.742T>C (p.Phe248Leu) c.661-11T>C (n.661-11T>C) c.624T>C n.1176T>C n.549T>C c.1000T>C (p.Phe334Leu) | |
| 4 | g.6300786T>G | CA356174028 | WFS1 | c.1027T>G (p.Phe343Val) c.968T>G c.991T>G (p.Phe331Val) c.742T>G (p.Phe248Val) c.661-11T>G (n.661-11T>G) c.624T>G n.1176T>G n.549T>G c.1000T>G (p.Phe334Val) | |
| 4 | g.6300786T= | CA1435772174 | WFS1 | c.1027T= (p.Phe343=) c.968T= c.991T= (p.Phe331=) c.742T= (p.Phe248=) c.661-11T= (n.661-11T=) c.624T= n.1176T= n.549T= c.1000T= (p.Phe334=) | |
| 4 | g.6300787T>A | CA356174031 | WFS1 | c.1028T>A (p.Phe343Tyr) c.969T>A c.992T>A (p.Phe331Tyr) c.743T>A (p.Phe248Tyr) c.661-10T>A (n.661-10T>A) c.625T>A n.1177T>A n.550T>A c.1001T>A (p.Phe334Tyr) | |
| 4 | g.6300787T>C | CA356174030 | WFS1 | c.1028T>C (p.Phe343Ser) c.969T>C c.992T>C (p.Phe331Ser) c.743T>C (p.Phe248Ser) c.661-10T>C (n.661-10T>C) c.625T>C n.1177T>C n.550T>C c.1001T>C (p.Phe334Ser) | |
| 4 | g.6300787T>G | CA356174029 | WFS1 | c.1028T>G (p.Phe343Cys) c.969T>G c.992T>G (p.Phe331Cys) c.743T>G (p.Phe248Cys) c.661-10T>G (n.661-10T>G) c.625T>G n.1177T>G n.550T>G c.1001T>G (p.Phe334Cys) | |
| 4 | g.6300789_6300791dup | CA2697557065 | WFS1 | c.1030_1032dup (p.Ile344_Val345insIle) c.971_973dup c.994_996dup (p.Ile332_Val333insIle) c.745_747dup (p.Ile249_Val250insIle) c.661-8_661-6dup (n.661-8_661-6dup) c.627_629dup n.1179_1181dup n.552_554dup c.1003_1005dup (p.Ile335_Val336insIle) | ClinVar |
| 4 | g.6300788C>A | CA356174033 | WFS1 | c.1029C>A (p.Phe343Leu) c.970C>A c.993C>A (p.Phe331Leu) c.744C>A (p.Phe248Leu) c.661-9C>A (n.661-9C>A) c.626C>A n.1178C>A n.551C>A c.1002C>A (p.Phe334Leu) | |
| 4 | g.6300788C= | CA1435772176 | WFS1 | c.1029C= (p.Phe343=) c.970C= c.993C= (p.Phe331=) c.744C= (p.Phe248=) c.661-9C= (n.661-9C=) c.626C= n.1178C= n.551C= c.1002C= (p.Phe334=) | |
| 4 | g.6300788C>G | CA356174032 | WFS1 | c.1029C>G (p.Phe343Leu) c.970C>G c.993C>G (p.Phe331Leu) c.744C>G (p.Phe248Leu) c.661-9C>G (n.661-9C>G) c.626C>G n.1178C>G n.551C>G c.1002C>G (p.Phe334Leu) | |
| 4 | g.6300788C>T | CA2839184 | WFS1 | c.1029C>T (p.Phe343=) c.970C>T c.993C>T (p.Phe331=) c.744C>T (p.Phe248=) c.661-9C>T (n.661-9C>T) c.626C>T n.1178C>T n.551C>T c.1002C>T (p.Phe334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300789A= | CA1435772178 | WFS1 | c.1030A= (p.Ile344=) c.971A= c.994A= (p.Ile332=) c.745A= (p.Ile249=) c.661-8A= (n.661-8A=) c.627A= n.1179A= n.552A= c.1003A= (p.Ile335=) | |
| 4 | g.6300789A>C | CA356174034 | WFS1 | c.1030A>C (p.Ile344Leu) c.971A>C c.994A>C (p.Ile332Leu) c.745A>C (p.Ile249Leu) c.661-8A>C (n.661-8A>C) c.627A>C n.1179A>C n.552A>C c.1003A>C (p.Ile335Leu) | |
| 4 | g.6300789A>G | CA2839185 | WFS1 | c.1030A>G (p.Ile344Val) c.971A>G c.994A>G (p.Ile332Val) c.745A>G (p.Ile249Val) c.661-8A>G (n.661-8A>G) c.627A>G n.1179A>G n.552A>G c.1003A>G (p.Ile335Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300789A>T | CA10606909 | WFS1 | c.1030A>T (p.Ile344Phe) c.971A>T c.994A>T (p.Ile332Phe) c.745A>T (p.Ile249Phe) c.661-8A>T (n.661-8A>T) c.627A>T n.1179A>T n.552A>T c.1003A>T (p.Ile335Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300790T>A | CA356174035 | WFS1 | c.1031T>A (p.Ile344Asn) c.972T>A c.995T>A (p.Ile332Asn) c.746T>A (p.Ile249Asn) c.661-7T>A (n.661-7T>A) c.628T>A n.1180T>A n.553T>A c.1004T>A (p.Ile335Asn) | |
| 4 | g.6300790T>C | CA2839186 | WFS1 | c.1031T>C (p.Ile344Thr) c.972T>C c.995T>C (p.Ile332Thr) c.746T>C (p.Ile249Thr) c.661-7T>C (n.661-7T>C) c.628T>C n.1180T>C n.553T>C c.1004T>C (p.Ile335Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300790T>G | CA356174036 | WFS1 | c.1031T>G (p.Ile344Ser) c.972T>G c.995T>G (p.Ile332Ser) c.746T>G (p.Ile249Ser) c.661-7T>G (n.661-7T>G) c.628T>G n.1180T>G n.553T>G c.1004T>G (p.Ile335Ser) | |
| 4 | g.6300790T= | CA1435772180 | WFS1 | c.1031T= (p.Ile344=) c.972T= c.995T= (p.Ile332=) c.746T= (p.Ile249=) c.661-7T= (n.661-7T=) c.628T= n.1180T= n.553T= c.1004T= (p.Ile335=) | |
| 4 | g.6300792_6300794del | CA2669843413 | WFS1 | c.1033_1035del (p.Val345del) c.974_976del c.997_999del (p.Val333del) c.748_750del (p.Val250del) c.661-5_661-3del (n.661-5_661-3del) c.630_632del n.1182_1184del n.555_557del c.1006_1008del (p.Val336del) | gnomAD v4 |
| 4 | g.6300791C>A | CA2839187 | WFS1 | c.1032C>A (p.Ile344=) c.973C>A c.996C>A (p.Ile332=) c.747C>A (p.Ile249=) c.661-6C>A (n.661-6C>A) c.629C>A n.1181C>A n.554C>A c.1005C>A (p.Ile335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300791C= | CA1435772184 | WFS1 | c.1032C= (p.Ile344=) c.973C= c.996C= (p.Ile332=) c.747C= (p.Ile249=) c.661-6C= (n.661-6C=) c.629C= n.1181C= n.554C= c.1005C= (p.Ile335=) | |
| 4 | g.6300791C>G | CA356174037 | WFS1 | c.1032C>G (p.Ile344Met) c.973C>G c.996C>G (p.Ile332Met) c.747C>G (p.Ile249Met) c.661-6C>G (n.661-6C>G) c.629C>G n.1181C>G n.554C>G c.1005C>G (p.Ile335Met) | gnomAD v4 |
| 4 | g.6300791C>T | CA2839188 | WFS1 | c.1032C>T (p.Ile344=) c.973C>T c.996C>T (p.Ile332=) c.747C>T (p.Ile249=) c.661-6C>T (n.661-6C>T) c.629C>T n.1181C>T n.554C>T c.1005C>T (p.Ile335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300791_6300792delinsAA | CA2499217321 | WFS1 | c.1032_1033delinsAA (p.Val345Ile) c.973_974delinsAA c.996_997delinsAA (p.Val333Ile) c.747_748delinsAA (p.Val250Ile) c.661-6_661-5delinsAA (n.661-6_661-5delinsAA) c.629_630delinsAA n.1181_1182delinsAA n.554_555delinsAA c.1005_1006delinsAA (p.Val336Ile) | ClinVar dbSNP |
| 4 | g.6300792G>A | CA136363 | WFS1 | c.1033G>A (p.Val345Ile) c.974G>A c.997G>A (p.Val333Ile) c.748G>A (p.Val250Ile) c.661-5G>A (n.661-5G>A) c.630G>A n.1182G>A n.555G>A c.1006G>A (p.Val336Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300792G>C | CA356174038 | WFS1 | c.1033G>C (p.Val345Leu) c.974G>C c.997G>C (p.Val333Leu) c.748G>C (p.Val250Leu) c.661-5G>C (n.661-5G>C) c.630G>C n.1182G>C n.555G>C c.1006G>C (p.Val336Leu) | ClinVar dbSNP |
| 4 | g.6300792G= | CA1435772189 | WFS1 | c.1033G= (p.Val345=) c.974G= c.997G= (p.Val333=) c.748G= (p.Val250=) c.661-5G= (n.661-5G=) c.630G= n.1182G= n.555G= c.1006G= (p.Val336=) | |
| 4 | g.6300792G>T | CA182614 | WFS1 | c.1033G>T (p.Val345Phe) c.974G>T c.997G>T (p.Val333Phe) c.748G>T (p.Val250Phe) c.661-5G>T (n.661-5G>T) c.630G>T n.1182G>T n.555G>T c.1006G>T (p.Val336Phe) | ClinVar dbSNP |
| 4 | g.6300792_6300793delinsAC | CA2573138323 | WFS1 | c.1033_1034delinsAC (p.Val345Thr) c.974_975delinsAC c.997_998delinsAC (p.Val333Thr) c.748_749delinsAC (p.Val250Thr) c.661-5_661-4delinsAC (n.661-5_661-4delinsAC) c.630_631delinsAC n.1182_1183delinsAC n.555_556delinsAC c.1006_1007delinsAC (p.Val336Thr) | ClinVar |
| 4 | g.6300793T>A | CA356174040 | WFS1 | c.1034T>A (p.Val345Asp) c.975T>A c.998T>A (p.Val333Asp) c.749T>A (p.Val250Asp) c.661-4T>A (n.661-4T>A) c.631T>A n.1183T>A n.556T>A c.1007T>A (p.Val336Asp) | |
| 4 | g.6300793T>C | CA356174041 | WFS1 | c.1034T>C (p.Val345Ala) c.975T>C c.998T>C (p.Val333Ala) c.749T>C (p.Val250Ala) c.661-4T>C (n.661-4T>C) c.631T>C n.1183T>C n.556T>C c.1007T>C (p.Val336Ala) | |
| 4 | g.6300793T>G | CA356174039 | WFS1 | c.1034T>G (p.Val345Gly) c.975T>G c.998T>G (p.Val333Gly) c.749T>G (p.Val250Gly) c.661-4T>G (n.661-4T>G) c.631T>G n.1183T>G n.556T>G c.1007T>G (p.Val336Gly) | |
| 4 | g.6300794C>A | CA438367849 | WFS1 | c.1035C>A (p.Val345=) c.976C>A c.999C>A (p.Val333=) c.750C>A (p.Val250=) c.661-3C>A (n.661-3C>A) c.632C>A n.1184C>A n.557C>A c.1008C>A (p.Val336=) | |
| 4 | g.6300794C= | CA1435772190 | WFS1 | c.1035C= (p.Val345=) c.976C= c.999C= (p.Val333=) c.750C= (p.Val250=) c.661-3C= (n.661-3C=) c.632C= n.1184C= n.557C= c.1008C= (p.Val336=) | |
| 4 | g.6300794C>G | CA438367848 | WFS1 | c.1035C>G (p.Val345=) c.976C>G c.999C>G (p.Val333=) c.750C>G (p.Val250=) c.661-3C>G (n.661-3C>G) c.632C>G n.1184C>G n.557C>G c.1008C>G (p.Val336=) | |
| 4 | g.6300794C>T | CA438367850 | WFS1 | c.1035C>T (p.Val345=) c.976C>T c.999C>T (p.Val333=) c.750C>T (p.Val250=) c.661-3C>T (n.661-3C>T) c.632C>T n.1184C>T n.557C>T c.1008C>T (p.Val336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300796_6300798dup | CA2578035746 | WFS1 | c.1037_1039dup (p.Ser346_Asn347insSer) c.978_980dup c.1001_1003dup (p.Ser334_Asn335insSer) c.752_754dup (p.Ser251_Asn252insSer) c.661-1_662dup c.634_636dup n.1186_1188dup n.559_561dup c.1010_1012dup (p.Ser337_Asn338insSer) | |
| 4 | g.6300795A>C | CA356174042 | WFS1 | c.1036A>C (p.Ser346Arg) c.977A>C c.1000A>C (p.Ser334Arg) c.751A>C (p.Ser251Arg) c.661-2A>C (n.661-2A>C) c.633A>C n.1185A>C n.558A>C c.1009A>C (p.Ser337Arg) | ClinVar dbSNP |
| 4 | g.6300795A>G | CA356174043 | WFS1 | c.1036A>G (p.Ser346Gly) c.977A>G c.1000A>G (p.Ser334Gly) c.751A>G (p.Ser251Gly) c.661-2A>G (n.661-2A>G) c.633A>G n.1185A>G n.558A>G c.1009A>G (p.Ser337Gly) | |
| 4 | g.6300795A>T | CA356174044 | WFS1 | c.1036A>T (p.Ser346Cys) c.977A>T c.1000A>T (p.Ser334Cys) c.751A>T (p.Ser251Cys) c.661-2A>T (n.661-2A>T) c.633A>T n.1185A>T n.558A>T c.1009A>T (p.Ser337Cys) | |
| 4 | g.6300796G>A | CA2839189 | WFS1 | c.1037G>A (p.Ser346Asn) c.978G>A c.1001G>A (p.Ser334Asn) c.752G>A (p.Ser251Asn) c.661-1G>A (n.661-1G>A) c.634G>A n.1186G>A n.559G>A c.1010G>A (p.Ser337Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6300796G>C | CA356174045 | WFS1 | c.1037G>C (p.Ser346Thr) c.978G>C c.1001G>C (p.Ser334Thr) c.752G>C (p.Ser251Thr) c.661-1G>C (n.661-1G>C) c.634G>C n.1186G>C n.559G>C c.1010G>C (p.Ser337Thr) | |
| 4 | g.6300796G= | CA1435772192 | WFS1 | c.1037G= (p.Ser346=) c.978G= c.1001G= (p.Ser334=) c.752G= (p.Ser251=) c.661-1G= (n.661-1G=) c.634G= n.1186G= n.559G= c.1010G= (p.Ser337=) | |
| 4 | g.6300796G>T | CA356174046 | WFS1 | c.1037G>T (p.Ser346Ile) c.978G>T c.1001G>T (p.Ser334Ile) c.752G>T (p.Ser251Ile) c.661-1G>T (n.661-1G>T) c.634G>T n.1186G>T n.559G>T c.1010G>T (p.Ser337Ile) | |
| 4 | g.6300797C>A | CA356174047 | WFS1 | c.1038C>A (p.Ser346Arg) c.979C>A c.1002C>A (p.Ser334Arg) c.753C>A (p.Ser251Arg) c.661C>A (p.Gln221Lys) c.635C>A n.1187C>A n.560C>A c.1011C>A (p.Ser337Arg) | |
| 4 | g.6300797C= | CA1435772193 | WFS1 | c.1038C= (p.Ser346=) c.979C= c.1002C= (p.Ser334=) c.753C= (p.Ser251=) c.661C= (p.Gln221=) c.635C= n.1187C= n.560C= c.1011C= (p.Ser337=) | |
| 4 | g.6300797C>G | CA356174048 | WFS1 | c.1038C>G (p.Ser346Arg) c.979C>G c.1002C>G (p.Ser334Arg) c.753C>G (p.Ser251Arg) c.661C>G (p.Gln221Glu) c.635C>G n.1187C>G n.560C>G c.1011C>G (p.Ser337Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300797C>T | CA438367857 | WFS1 | c.1038C>T (p.Ser346=) c.979C>T c.1002C>T (p.Ser334=) c.753C>T (p.Ser251=) c.661C>T (p.Gln221Ter) c.635C>T n.1187C>T n.560C>T c.1011C>T (p.Ser337=) | dbSNP gnomAD v4 |
| 4 | g.6300798A= | CA1435772194 | WFS1 | c.1039A= (p.Asn347=) c.980A= c.1003A= (p.Asn335=) c.754A= (p.Asn252=) c.662A= (p.Gln221=) c.636A= n.1188A= n.561A= c.1012A= (p.Asn338=) | |
| 4 | g.6300798A>C | CA356174049 | WFS1 | c.1039A>C (p.Asn347His) c.980A>C c.1003A>C (p.Asn335His) c.754A>C (p.Asn252His) c.662A>C (p.Gln221Pro) c.636A>C n.1188A>C n.561A>C c.1012A>C (p.Asn338His) | |
| 4 | g.6300798A>G | CA356174050 | WFS1 | c.1039A>G (p.Asn347Asp) c.980A>G c.1003A>G (p.Asn335Asp) c.754A>G (p.Asn252Asp) c.662A>G (p.Gln221Arg) c.636A>G n.1188A>G n.561A>G c.1012A>G (p.Asn338Asp) | |
| 4 | g.6300798A>T | CA356174051 | WFS1 | c.1039A>T (p.Asn347Tyr) c.980A>T c.1003A>T (p.Asn335Tyr) c.754A>T (p.Asn252Tyr) c.662A>T (p.Gln221Leu) c.636A>T n.1188A>T n.561A>T c.1012A>T (p.Asn338Tyr) | dbSNP |
| 4 | g.6300799A>C | CA356174052 | WFS1 | c.1040A>C (p.Asn347Thr) c.981A>C c.1004A>C (p.Asn335Thr) c.755A>C (p.Asn252Thr) c.663A>C (p.Gln221His) c.637A>C n.1189A>C n.562A>C c.1013A>C (p.Asn338Thr) | gnomAD v4 |
| 4 | g.6300799A>G | CA356174053 | WFS1 | c.1040A>G (p.Asn347Ser) c.981A>G c.1004A>G (p.Asn335Ser) c.755A>G (p.Asn252Ser) c.663A>G (p.Gln221=) c.637A>G n.1189A>G n.562A>G c.1013A>G (p.Asn338Ser) | |
| 4 | g.6300799A>T | CA356174054 | WFS1 | c.1040A>T (p.Asn347Ile) c.981A>T c.1004A>T (p.Asn335Ile) c.755A>T (p.Asn252Ile) c.663A>T (p.Gln221His) c.637A>T n.1189A>T n.562A>T c.1013A>T (p.Asn338Ile) | |
| 4 | g.6300800C>A | CA356174055 | WFS1 | c.1041C>A (p.Asn347Lys) c.982C>A c.1005C>A (p.Asn335Lys) c.756C>A (p.Asn252Lys) c.664C>A (p.Pro222Thr) c.638C>A n.1190C>A n.563C>A c.1014C>A (p.Asn338Lys) | |
| 4 | g.6300800C= | CA1435772196 | WFS1 | c.1041C= (p.Asn347=) c.982C= c.1005C= (p.Asn335=) c.756C= (p.Asn252=) c.664C= (p.Pro222=) c.638C= n.1190C= n.563C= c.1014C= (p.Asn338=) | |
| 4 | g.6300800C>G | CA356174056 | WFS1 | c.1041C>G (p.Asn347Lys) c.982C>G c.1005C>G (p.Asn335Lys) c.756C>G (p.Asn252Lys) c.664C>G (p.Pro222Ala) c.638C>G n.1190C>G n.563C>G c.1014C>G (p.Asn338Lys) | |
| 4 | g.6300800C>T | CA438367859 | WFS1 | c.1041C>T (p.Asn347=) c.982C>T c.1005C>T (p.Asn335=) c.756C>T (p.Asn252=) c.664C>T (p.Pro222Ser) c.638C>T n.1190C>T n.563C>T c.1014C>T (p.Asn338=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300801C>A | CA356174057 | WFS1 | c.1042C>A (p.Leu348Ile) c.983C>A c.1006C>A (p.Leu336Ile) c.757C>A (p.Leu253Ile) c.665C>A (p.Pro222His) c.639C>A n.1191C>A n.564C>A c.1015C>A (p.Leu339Ile) | |
| 4 | g.6300801C= | CA1435772197 | WFS1 | c.1042C= (p.Leu348=) c.983C= c.1006C= (p.Leu336=) c.757C= (p.Leu253=) c.665C= (p.Pro222=) c.639C= n.1191C= n.564C= c.1015C= (p.Leu339=) | |
| 4 | g.6300801C>G | CA91796220 | WFS1 | c.1042C>G (p.Leu348Val) c.983C>G c.1006C>G (p.Leu336Val) c.757C>G (p.Leu253Val) c.665C>G (p.Pro222Arg) c.639C>G n.1191C>G n.564C>G c.1015C>G (p.Leu339Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300801C>T | CA91796221 | WFS1 | c.1042C>T (p.Leu348Phe) c.983C>T c.1006C>T (p.Leu336Phe) c.757C>T (p.Leu253Phe) c.665C>T (p.Pro222Leu) c.639C>T n.1191C>T n.564C>T c.1015C>T (p.Leu339Phe) | dbSNP gnomAD v4 |
| 4 | g.6300803_6300813del | CA2573052345 | WFS1 | c.1044_1054del (p.Thr349LeufsTer?) c.985_995del c.1008_1018del (p.Thr337LeufsTer?) c.759_769del (p.Thr254LeufsTer?) c.667_677del (p.His223SerfsTer19) c.641_651del n.1193_1203del c.1017_1027del (p.Thr340LeufsTer?) | ClinVar dbSNP |
| 4 | g.6300802T>A | CA356174058 | WFS1 | c.1043T>A (p.Leu348His) c.984T>A c.1007T>A (p.Leu336His) c.758T>A (p.Leu253His) c.666T>A (p.Pro222=) c.640T>A n.1192T>A n.565T>A c.1016T>A (p.Leu339His) | |
| 4 | g.6300802T>C | CA356174059 | WFS1 | c.1043T>C (p.Leu348Pro) c.984T>C c.1007T>C (p.Leu336Pro) c.758T>C (p.Leu253Pro) c.666T>C (p.Pro222=) c.640T>C n.1192T>C n.565T>C c.1016T>C (p.Leu339Pro) | |
| 4 | g.6300802T>G | CA356174060 | WFS1 | c.1043T>G (p.Leu348Arg) c.984T>G c.1007T>G (p.Leu336Arg) c.758T>G (p.Leu253Arg) c.666T>G (p.Pro222=) c.640T>G n.1192T>G n.565T>G c.1016T>G (p.Leu339Arg) | |
| 4 | g.6300803C>A | CA438367864 | WFS1 | c.1044C>A (p.Leu348=) c.985C>A c.1008C>A (p.Leu336=) c.759C>A (p.Leu253=) c.667C>A (p.His223Asn) c.641C>A n.1193C>A n.566C>A c.1017C>A (p.Leu339=) | dbSNP |
| 4 | g.6300803C= | CA1435772199 | WFS1 | c.1044C= (p.Leu348=) c.985C= c.1008C= (p.Leu336=) c.759C= (p.Leu253=) c.667C= (p.His223=) c.641C= n.1193C= n.566C= c.1017C= (p.Leu339=) | |
| 4 | g.6300803C>G | CA2839190 | WFS1 | c.1044C>G (p.Leu348=) c.985C>G c.1008C>G (p.Leu336=) c.759C>G (p.Leu253=) c.667C>G (p.His223Asp) c.641C>G n.1193C>G n.566C>G c.1017C>G (p.Leu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300803C>T | CA438367865 | WFS1 | c.1044C>T (p.Leu348=) c.985C>T c.1008C>T (p.Leu336=) c.759C>T (p.Leu253=) c.667C>T (p.His223Tyr) c.641C>T n.1193C>T n.566C>T c.1017C>T (p.Leu339=) | gnomAD v4 |
| 4 | g.6300804A>C | CA356174061 | WFS1 | c.1045A>C (p.Thr349Pro) c.986A>C c.1009A>C (p.Thr337Pro) c.760A>C (p.Thr254Pro) c.668A>C (p.His223Pro) c.642A>C n.1194A>C n.567A>C c.1018A>C (p.Thr340Pro) | |
| 4 | g.6300804A>G | CA356174062 | WFS1 | c.1045A>G (p.Thr349Ala) c.986A>G c.1009A>G (p.Thr337Ala) c.760A>G (p.Thr254Ala) c.668A>G (p.His223Arg) c.642A>G n.1194A>G n.567A>G c.1018A>G (p.Thr340Ala) | ClinVar |
| 4 | g.6300804A>T | CA356174063 | WFS1 | c.1045A>T (p.Thr349Ser) c.986A>T c.1009A>T (p.Thr337Ser) c.760A>T (p.Thr254Ser) c.668A>T (p.His223Leu) c.642A>T n.1194A>T n.567A>T c.1018A>T (p.Thr340Ser) | |
| 4 | g.6300805C>A | CA356174064 | WFS1 | c.1046C>A (p.Thr349Asn) c.987C>A c.1010C>A (p.Thr337Asn) c.761C>A (p.Thr254Asn) c.669C>A (p.His223Gln) c.643C>A n.1195C>A n.568C>A c.1019C>A (p.Thr340Asn) | |
| 4 | g.6300805C>G | CA356174065 | WFS1 | c.1046C>G (p.Thr349Ser) c.987C>G c.1010C>G (p.Thr337Ser) c.761C>G (p.Thr254Ser) c.669C>G (p.His223Gln) c.643C>G n.1195C>G n.568C>G c.1019C>G (p.Thr340Ser) | |
| 4 | g.6300805C>T | CA356174066 | WFS1 | c.1046C>T (p.Thr349Ile) c.987C>T c.1010C>T (p.Thr337Ile) c.761C>T (p.Thr254Ile) c.669C>T (p.His223=) c.643C>T n.1195C>T n.568C>T c.1019C>T (p.Thr340Ile) | ClinVar |
| 4 | g.6300806C>A | CA438367870 | WFS1 | c.1047C>A (p.Thr349=) c.988C>A c.1011C>A (p.Thr337=) c.762C>A (p.Thr254=) c.670C>A (p.His224Asn) c.644C>A n.1196C>A n.569C>A c.1020C>A (p.Thr340=) | |
| 4 | g.6300806C= | CA1435772200 | WFS1 | c.1047C= (p.Thr349=) c.988C= c.1011C= (p.Thr337=) c.762C= (p.Thr254=) c.670C= (p.His224=) c.644C= n.1196C= n.569C= c.1020C= (p.Thr340=) | |
| 4 | g.6300806C>G | CA438367871 | WFS1 | c.1047C>G (p.Thr349=) c.988C>G c.1011C>G (p.Thr337=) c.762C>G (p.Thr254=) c.670C>G (p.His224Asp) c.644C>G n.1196C>G n.569C>G c.1020C>G (p.Thr340=) | |
| 4 | g.6300806C>T | CA438367872 | WFS1 | c.1047C>T (p.Thr349=) c.988C>T c.1011C>T (p.Thr337=) c.762C>T (p.Thr254=) c.670C>T (p.His224Tyr) c.644C>T n.1196C>T n.569C>T c.1020C>T (p.Thr340=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300807A= | CA1435772202 | WFS1 | c.1048A= (p.Ile350=) c.989A= c.1012A= (p.Ile338=) c.763A= (p.Ile255=) c.671A= (p.His224=) c.645A= n.1197A= n.570A= c.1021A= (p.Ile341=) | |
| 4 | g.6300807A>C | CA356174068 | WFS1 | c.1048A>C (p.Ile350Leu) c.989A>C c.1012A>C (p.Ile338Leu) c.763A>C (p.Ile255Leu) c.671A>C (p.His224Pro) c.645A>C n.1197A>C n.570A>C c.1021A>C (p.Ile341Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300807A>G | CA2839191 | WFS1 | c.1048A>G (p.Ile350Val) c.989A>G c.1012A>G (p.Ile338Val) c.763A>G (p.Ile255Val) c.671A>G (p.His224Arg) c.645A>G n.1197A>G n.570A>G c.1021A>G (p.Ile341Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300807A>T | CA356174067 | WFS1 | c.1048A>T (p.Ile350Phe) c.989A>T c.1012A>T (p.Ile338Phe) c.763A>T (p.Ile255Phe) c.671A>T (p.His224Leu) c.645A>T n.1197A>T n.570A>T c.1021A>T (p.Ile341Phe) | |
| 4 | g.6300808T>A | CA356174069 | WFS1 | c.1049T>A (p.Ile350Asn) c.990T>A c.1013T>A (p.Ile338Asn) c.764T>A (p.Ile255Asn) c.672T>A (p.His224Gln) c.646T>A n.1198T>A c.1022T>A (p.Ile341Asn) | |
| 4 | g.6300808T>C | CA356174070 | WFS1 | c.1049T>C (p.Ile350Thr) c.990T>C c.1013T>C (p.Ile338Thr) c.764T>C (p.Ile255Thr) c.672T>C (p.His224=) c.646T>C n.1198T>C c.1022T>C (p.Ile341Thr) | |
| 4 | g.6300808T>G | CA356174071 | WFS1 | c.1049T>G (p.Ile350Ser) c.990T>G c.1013T>G (p.Ile338Ser) c.764T>G (p.Ile255Ser) c.672T>G (p.His224Gln) c.646T>G n.1198T>G c.1022T>G (p.Ile341Ser) | |
| 4 | g.6300808_6300809delinsAT | CA2573138324 | WFS1 | c.1049_1050delinsAT (p.Ile350Asn) c.990_991delinsAT c.1013_1014delinsAT (p.Ile338Asn) c.764_765delinsAT (p.Ile255Asn) c.672_673delinsAT (p.His224GlnfsTer2) c.646_647delinsAT n.1198_1199delinsAT c.1022_1023delinsAT (p.Ile341Asn) | ClinVar dbSNP |
| 4 | g.6300809C>A | CA438367874 | WFS1 | c.1050C>A (p.Ile350=) c.991C>A c.1014C>A (p.Ile338=) c.765C>A (p.Ile255=) c.673C>A (p.Arg225=) c.647C>A n.1199C>A c.1023C>A (p.Ile341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300809C= | CA1435772204 | WFS1 | c.1050C= (p.Ile350=) c.991C= c.1014C= (p.Ile338=) c.765C= (p.Ile255=) c.673C= (p.Arg225=) c.647C= n.1199C= c.1023C= (p.Ile341=) | |
| 4 | g.6300809C>G | CA2839192 | WFS1 | c.1050C>G (p.Ile350Met) c.991C>G c.1014C>G (p.Ile338Met) c.765C>G (p.Ile255Met) c.673C>G (p.Arg225Gly) c.647C>G n.1199C>G c.1023C>G (p.Ile341Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300809C>T | CA438367875 | WFS1 | c.1050C>T (p.Ile350=) c.991C>T c.1014C>T (p.Ile338=) c.765C>T (p.Ile255=) c.673C>T (p.Arg225Ter) c.647C>T n.1199C>T c.1023C>T (p.Ile341=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300810G>A | CA323935 | WFS1 | c.1051G>A (p.Asp351Asn) c.992G>A c.1015G>A (p.Asp339Asn) c.766G>A (p.Asp256Asn) c.674G>A (p.Arg225Gln) c.648G>A n.1200G>A c.1024G>A (p.Asp342Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6300810G>C | CA356174073 | WFS1 | c.1051G>C (p.Asp351His) c.992G>C c.1015G>C (p.Asp339His) c.766G>C (p.Asp256His) c.674G>C (p.Arg225Pro) c.648G>C n.1200G>C c.1024G>C (p.Asp342His) | gnomAD v4 |
| 4 | g.6300810G= | CA1435772206 | WFS1 | c.1051G= (p.Asp351=) c.992G= c.1015G= (p.Asp339=) c.766G= (p.Asp256=) c.674G= (p.Arg225=) c.648G= n.1200G= c.1024G= (p.Asp342=) | |
| 4 | g.6300810G>T | CA356174072 | WFS1 | c.1051G>T (p.Asp351Tyr) c.992G>T c.1015G>T (p.Asp339Tyr) c.766G>T (p.Asp256Tyr) c.674G>T (p.Arg225Leu) c.648G>T n.1200G>T c.1024G>T (p.Asp342Tyr) | gnomAD v4 |
| 4 | g.6300810dup | CA2760284639 | WFS1 | c.1051dup (p.Asp351GlyfsTer?) c.992dup c.1015dup (p.Asp339GlyfsTer?) c.766dup (p.Asp256GlyfsTer?) c.674dup (p.Leu226ThrfsTer20) c.648dup n.1200dup c.1024dup (p.Asp342GlyfsTer?) | |
| 4 | g.6300811A= | CA1435772210 | WFS1 | c.1052A= (p.Asp351=) c.993A= c.1016A= (p.Asp339=) c.767A= (p.Asp256=) c.675A= (p.Arg225=) c.649A= n.1201A= c.1025A= (p.Asp342=) | |
| 4 | g.6300811A>C | CA356174074 | WFS1 | c.1052A>C (p.Asp351Ala) c.993A>C c.1016A>C (p.Asp339Ala) c.767A>C (p.Asp256Ala) c.675A>C (p.Arg225=) c.649A>C n.1201A>C c.1025A>C (p.Asp342Ala) | |
| 4 | g.6300811A>G | CA356174075 | WFS1 | c.1052A>G (p.Asp351Gly) c.993A>G c.1016A>G (p.Asp339Gly) c.767A>G (p.Asp256Gly) c.675A>G (p.Arg225=) c.649A>G n.1201A>G c.1025A>G (p.Asp342Gly) | ClinVar dbSNP |
| 4 | g.6300811A>T | CA356174076 | WFS1 | c.1052A>T (p.Asp351Val) c.993A>T c.1016A>T (p.Asp339Val) c.767A>T (p.Asp256Val) c.675A>T (p.Arg225=) c.649A>T n.1201A>T c.1025A>T (p.Asp342Val) | |
| 4 | g.6300811_6300814delinsACTT | CA1435772209 | WFS1 | c.1052_1055delinsACTT (p.Asp351=) c.993_996delinsACTT c.1016_1019delinsACTT (p.Asp339=) c.767_770delinsACTT (p.Asp256=) c.675_678delinsACTT (p.Arg225=) c.649_652delinsACTT n.1201_1204delinsACTT c.1025_1028delinsACTT (p.Asp342=) | |
| 4 | g.6300812C>A | CA356174077 | WFS1 | c.1053C>A (p.Asp351Glu) c.994C>A c.1017C>A (p.Asp339Glu) c.768C>A (p.Asp256Glu) c.676C>A (p.Leu226Ile) c.650C>A n.1202C>A c.1026C>A (p.Asp342Glu) | |
| 4 | g.6300812C= | CA1435772212 | WFS1 | c.1053C= (p.Asp351=) c.994C= c.1017C= (p.Asp339=) c.768C= (p.Asp256=) c.676C= (p.Leu226=) c.650C= n.1202C= c.1026C= (p.Asp342=) | |
| 4 | g.6300812C>G | CA356174078 | WFS1 | c.1053C>G (p.Asp351Glu) c.994C>G c.1017C>G (p.Asp339Glu) c.768C>G (p.Asp256Glu) c.676C>G (p.Leu226Val) c.650C>G n.1202C>G c.1026C>G (p.Asp342Glu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6300812C>T | CA438367882 | WFS1 | c.1053C>T (p.Asp351=) c.994C>T c.1017C>T (p.Asp339=) c.768C>T (p.Asp256=) c.676C>T (p.Leu226Phe) c.650C>T n.1202C>T c.1026C>T (p.Asp342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300816_6300818del | CA2839193 | WFS1 | c.1057_1059del (p.Phe353del) c.998_1000del c.1021_1023del (p.Phe341del) c.772_774del (p.Phe258del) c.680_682del (p.Leu227del) c.654_656del n.1206_1208del c.1030_1032del (p.Phe344del) | dbSNP ExAC gnomAD v4 |
| 4 | g.6300819_6300827dup | CA91796222 | WFS1 | c.1060_1068dup (p.Phe356_Ile357insAlaPhePhe) c.1001_1009dup c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe) c.775_783dup (p.Phe261_Ile262insAlaPhePhe) c.683_691dup (p.Leu230_His231insArgLeuLeu) c.657_665dup n.1209_1217dup c.1033_1041dup (p.Phe347_Ile348insAlaPhePhe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300819_6300827del | CA2578035747 | WFS1 | c.1060_1068del (p.Ala354_Phe356del) c.1001_1009del c.1024_1032del (p.Ala342_Phe344del) c.775_783del (p.Ala259_Phe261del) c.683_691del (p.Arg228_Leu230del) c.657_665del n.1209_1217del c.1033_1041del (p.Ala345_Phe347del) | ClinVar gnomAD v4 |
| 4 | g.6300816_6300827del | CA2669843414 | WFS1 | c.1057_1068del (p.Phe353_Phe356del) c.998_1009del c.1021_1032del (p.Phe341_Phe344del) c.772_783del (p.Phe258_Phe261del) c.680_691del (p.Leu227_Leu230del) c.654_665del n.1206_1217del c.1030_1041del (p.Phe344_Phe347del) | gnomAD v4 |
| 4 | g.6300813T>A | CA356174079 | WFS1 | c.1054T>A (p.Phe352Ile) c.995T>A c.1018T>A (p.Phe340Ile) c.769T>A (p.Phe257Ile) c.677T>A (p.Leu226His) c.651T>A n.1203T>A c.1027T>A (p.Phe343Ile) | |
| 4 | g.6300813T>C | CA356174081 | WFS1 | c.1054T>C (p.Phe352Leu) c.995T>C c.1018T>C (p.Phe340Leu) c.769T>C (p.Phe257Leu) c.677T>C (p.Leu226Pro) c.651T>C n.1203T>C c.1027T>C (p.Phe343Leu) | |
| 4 | g.6300813T>G | CA356174080 | WFS1 | c.1054T>G (p.Phe352Val) c.995T>G c.1018T>G (p.Phe340Val) c.769T>G (p.Phe257Val) c.677T>G (p.Leu226Arg) c.651T>G n.1203T>G c.1027T>G (p.Phe343Val) | gnomAD v4 |
| 4 | g.6300814T>A | CA356174082 | WFS1 | c.1055T>A (p.Phe352Tyr) c.996T>A c.1019T>A (p.Phe340Tyr) c.770T>A (p.Phe257Tyr) c.678T>A (p.Leu226=) c.652T>A n.1204T>A c.1028T>A (p.Phe343Tyr) | |
| 4 | g.6300814T>C | CA356174084 | WFS1 | c.1055T>C (p.Phe352Ser) c.996T>C c.1019T>C (p.Phe340Ser) c.770T>C (p.Phe257Ser) c.678T>C (p.Leu226=) c.652T>C n.1204T>C c.1028T>C (p.Phe343Ser) | |
| 4 | g.6300814T>G | CA356174083 | WFS1 | c.1055T>G (p.Phe352Cys) c.996T>G c.1019T>G (p.Phe340Cys) c.770T>G (p.Phe257Cys) c.678T>G (p.Leu226=) c.652T>G n.1204T>G c.1028T>G (p.Phe343Cys) | |
| 4 | g.6300815C>A | CA356174085 | WFS1 | c.1056C>A (p.Phe352Leu) c.997C>A c.1020C>A (p.Phe340Leu) c.771C>A (p.Phe257Leu) c.679C>A (p.Leu227Ile) c.653C>A n.1205C>A c.1029C>A (p.Phe343Leu) | gnomAD v4 COSMIC |
| 4 | g.6300815C= | CA1435772215 | WFS1 | c.1056C= (p.Phe352=) c.997C= c.1020C= (p.Phe340=) c.771C= (p.Phe257=) c.679C= (p.Leu227=) c.653C= n.1205C= c.1029C= (p.Phe343=) | |
| 4 | g.6300815C>G | CA10576637 | WFS1 | c.1056C>G (p.Phe352Leu) c.997C>G c.1020C>G (p.Phe340Leu) c.771C>G (p.Phe257Leu) c.679C>G (p.Leu227Val) c.653C>G n.1205C>G c.1029C>G (p.Phe343Leu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6300815C>T | CA438367884 | WFS1 | c.1056C>T (p.Phe352=) c.997C>T c.1020C>T (p.Phe340=) c.771C>T (p.Phe257=) c.679C>T (p.Leu227Phe) c.653C>T n.1205C>T c.1029C>T (p.Phe343=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300816T>A | CA356174086 | WFS1 | c.1057T>A (p.Phe353Ile) c.998T>A c.1021T>A (p.Phe341Ile) c.772T>A (p.Phe258Ile) c.680T>A (p.Leu227His) c.654T>A n.1206T>A c.1030T>A (p.Phe344Ile) | |
| 4 | g.6300816T>C | CA356174087 | WFS1 | c.1057T>C (p.Phe353Leu) c.998T>C c.1021T>C (p.Phe341Leu) c.772T>C (p.Phe258Leu) c.680T>C (p.Leu227Pro) c.654T>C n.1206T>C c.1030T>C (p.Phe344Leu) | |
| 4 | g.6300816T>G | CA356174088 | WFS1 | c.1057T>G (p.Phe353Val) c.998T>G c.1021T>G (p.Phe341Val) c.772T>G (p.Phe258Val) c.680T>G (p.Leu227Arg) c.654T>G n.1206T>G c.1030T>G (p.Phe344Val) | |
| 4 | g.6300817T>A | CA356174089 | WFS1 | c.1058T>A (p.Phe353Tyr) c.999T>A c.1022T>A (p.Phe341Tyr) c.773T>A (p.Phe258Tyr) c.681T>A (p.Leu227=) c.655T>A n.1207T>A c.1031T>A (p.Phe344Tyr) | |
| 4 | g.6300817T>C | CA356174090 | WFS1 | c.1058T>C (p.Phe353Ser) c.999T>C c.1022T>C (p.Phe341Ser) c.773T>C (p.Phe258Ser) c.681T>C (p.Leu227=) c.655T>C n.1207T>C c.1031T>C (p.Phe344Ser) | |
| 4 | g.6300817T>G | CA356174091 | WFS1 | c.1058T>G (p.Phe353Cys) c.999T>G c.1022T>G (p.Phe341Cys) c.773T>G (p.Phe258Cys) c.681T>G (p.Leu227=) c.655T>G n.1207T>G c.1031T>G (p.Phe344Cys) | |
| 4 | g.6300818C>A | CA356174092 | WFS1 | c.1059C>A (p.Phe353Leu) c.1000C>A c.1023C>A (p.Phe341Leu) c.774C>A (p.Phe258Leu) c.682C>A (p.Arg228Ser) c.656C>A n.1208C>A c.1032C>A (p.Phe344Leu) | |
| 4 | g.6300818C= | CA1435772219 | WFS1 | c.1059C= (p.Phe353=) c.1000C= c.1023C= (p.Phe341=) c.774C= (p.Phe258=) c.682C= (p.Arg228=) c.656C= n.1208C= c.1032C= (p.Phe344=) | |
| 4 | g.6300818C>G | CA356174093 | WFS1 | c.1059C>G (p.Phe353Leu) c.1000C>G c.1023C>G (p.Phe341Leu) c.774C>G (p.Phe258Leu) c.682C>G (p.Arg228Gly) c.656C>G n.1208C>G c.1032C>G (p.Phe344Leu) | gnomAD v4 |
| 4 | g.6300818C>T | CA282566 | WFS1 | c.1059C>T (p.Phe353=) c.1000C>T c.1023C>T (p.Phe341=) c.774C>T (p.Phe258=) c.682C>T (p.Arg228Cys) c.656C>T n.1208C>T c.1032C>T (p.Phe344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300819G>A | CA231652 | WFS1 | c.1060G>A (p.Ala354Thr) c.1001G>A c.1024G>A (p.Ala342Thr) c.775G>A (p.Ala259Thr) c.683G>A (p.Arg228His) c.657G>A n.1209G>A c.1033G>A (p.Ala345Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300819G>C | CA2839194 | WFS1 | c.1060G>C (p.Ala354Pro) c.1001G>C c.1024G>C (p.Ala342Pro) c.775G>C (p.Ala259Pro) c.683G>C (p.Arg228Pro) c.657G>C n.1209G>C c.1033G>C (p.Ala345Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300819G= | CA1435772221 | WFS1 | c.1060G= (p.Ala354=) c.1001G= c.1024G= (p.Ala342=) c.775G= (p.Ala259=) c.683G= (p.Arg228=) c.657G= n.1209G= c.1033G= (p.Ala345=) | |
| 4 | g.6300819G>T | CA356174094 | WFS1 | c.1060G>T (p.Ala354Ser) c.1001G>T c.1024G>T (p.Ala342Ser) c.775G>T (p.Ala259Ser) c.683G>T (p.Arg228Leu) c.657G>T n.1209G>T c.1033G>T (p.Ala345Ser) | dbSNP gnomAD v4 |
| 4 | g.6300820C>A | CA356174095 | WFS1 | c.1061C>A (p.Ala354Asp) c.1002C>A c.1025C>A (p.Ala342Asp) c.776C>A (p.Ala259Asp) c.684C>A (p.Arg228=) c.658C>A n.1210C>A c.1034C>A (p.Ala345Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300820C= | CA1435772224 | WFS1 | c.1061C= (p.Ala354=) c.1002C= c.1025C= (p.Ala342=) c.776C= (p.Ala259=) c.684C= (p.Arg228=) c.658C= n.1210C= c.1034C= (p.Ala345=) | |
| 4 | g.6300820C>G | CA356174096 | WFS1 | c.1061C>G (p.Ala354Gly) c.1002C>G c.1025C>G (p.Ala342Gly) c.776C>G (p.Ala259Gly) c.684C>G (p.Arg228=) c.658C>G n.1210C>G c.1034C>G (p.Ala345Gly) | |
| 4 | g.6300820C>T | CA356174097 | WFS1 | c.1061C>T (p.Ala354Val) c.1002C>T c.1025C>T (p.Ala342Val) c.776C>T (p.Ala259Val) c.684C>T (p.Arg228=) c.658C>T n.1210C>T c.1034C>T (p.Ala345Val) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6300820_6300823delinsCCTT | CA1435772225 | WFS1 | c.1061_1064delinsCCTT (p.Ala354=) c.1002_1005delinsCCTT c.1025_1028delinsCCTT (p.Ala342=) c.776_779delinsCCTT (p.Ala259=) c.684_687delinsCCTT (p.Arg228=) c.658_661delinsCCTT n.1210_1213delinsCCTT c.1034_1037delinsCCTT (p.Ala345=) | |
| 4 | g.6300821C>A | CA438367885 | WFS1 | c.1062C>A (p.Ala354=) c.1003C>A c.1026C>A (p.Ala342=) c.777C>A (p.Ala259=) c.685C>A (p.Leu229Ile) c.659C>A n.1211C>A c.1035C>A (p.Ala345=) | |
| 4 | g.6300821C= | CA1435772229 | WFS1 | c.1062C= (p.Ala354=) c.1003C= c.1026C= (p.Ala342=) c.777C= (p.Ala259=) c.685C= (p.Leu229=) c.659C= n.1211C= c.1035C= (p.Ala345=) | |
| 4 | g.6300821C>G | CA438367886 | WFS1 | c.1062C>G (p.Ala354=) c.1003C>G c.1026C>G (p.Ala342=) c.777C>G (p.Ala259=) c.685C>G (p.Leu229Val) c.659C>G n.1211C>G c.1035C>G (p.Ala345=) | |
| 4 | g.6300821C>T | CA2839195 | WFS1 | c.1062C>T (p.Ala354=) c.1003C>T c.1026C>T (p.Ala342=) c.777C>T (p.Ala259=) c.685C>T (p.Leu229Phe) c.659C>T n.1211C>T c.1035C>T (p.Ala345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300821_6300822delinsCT | CA1435772231 | WFS1 | c.1062_1063delinsCT (p.Ala354=) c.1003_1004delinsCT c.1026_1027delinsCT (p.Ala342=) c.777_778delinsCT (p.Ala259=) c.685_686delinsCT (p.Leu229=) c.659_660delinsCT n.1211_1212delinsCT c.1035_1036delinsCT (p.Ala345=) | |
| 4 | g.6300825_6300827del | CA1435772228 | WFS1 | c.1066_1068del (p.Phe356del) c.1007_1009del c.1030_1032del (p.Phe344del) c.781_783del (p.Phe261del) c.689_691del (p.Leu230del) c.663_665del n.1215_1217del c.1039_1041del (p.Phe347del) | dbSNP |
| 4 | g.6300821_6300835delinsCTTCTTCATCCCGCT | CA1435772232 | WFS1 | c.1062_1076delinsCTTCTTCATCCCGCT (p.Ala354=) c.1003_1017delinsCTTCTTCATCCCGCT c.1026_1040delinsCTTCTTCATCCCGCT (p.Ala342=) c.777_791delinsCTTCTTCATCCCGCT (p.Ala259=) c.685_699delinsCTTCTTCATCCCGCT (p.Leu229=) c.659_673delinsCTTCTTCATCCCGCT n.1211_1225delinsCTTCTTCATCCCGCT c.1035_1049delinsCTTCTTCATCCCGCT (p.Ala345=) | |
| 4 | g.6300821_6300822insACT | CA2760284647 | WFS1 | c.1062_1063insACT (p.Ala354_Phe355insThr) c.1003_1004insACT c.1026_1027insACT (p.Ala342_Phe343insThr) c.777_778insACT (p.Ala259_Phe260insThr) c.685_686insACT (p.Leu229delinsHisPhe) c.659_660insACT n.1211_1212insACT c.1035_1036insACT (p.Ala345_Phe346insThr) | |
| 4 | g.6300822T>A | CA356174098 | WFS1 | c.1063T>A (p.Phe355Ile) c.1004T>A c.1027T>A (p.Phe343Ile) c.778T>A (p.Phe260Ile) c.686T>A (p.Leu229His) c.660T>A n.1212T>A c.1036T>A (p.Phe346Ile) | |
| 4 | g.6300822T>C | CA356174099 | WFS1 | c.1063T>C (p.Phe355Leu) c.1004T>C c.1027T>C (p.Phe343Leu) c.778T>C (p.Phe260Leu) c.686T>C (p.Leu229Pro) c.660T>C n.1212T>C c.1036T>C (p.Phe346Leu) | gnomAD v4 |
| 4 | g.6300822T>G | CA356174100 | WFS1 | c.1063T>G (p.Phe355Val) c.1004T>G c.1027T>G (p.Phe343Val) c.778T>G (p.Phe260Val) c.686T>G (p.Leu229Arg) c.660T>G n.1212T>G c.1036T>G (p.Phe346Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300822T= | CA1435772234 | WFS1 | c.1063T= (p.Phe355=) c.1004T= c.1027T= (p.Phe343=) c.778T= (p.Phe260=) c.686T= (p.Leu229=) c.660T= n.1212T= c.1036T= (p.Phe346=) | |
| 4 | g.6300823del | CA549707894 | WFS1 | c.1064del (p.Phe355SerfsTer16) c.1005del c.1028del (p.Phe343SerfsTer16) c.779del (p.Phe260SerfsTer16) c.687del (p.Leu230PhefsTer?) c.661del n.1213del c.1037del (p.Phe346SerfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300822_6300835del | CA1435772235 | WFS1 | c.1063_1076del (p.Phe355GlyfsTer?) c.1004_1017del c.1027_1040del (p.Phe343GlyfsTer?) c.778_791del (p.Phe260GlyfsTer?) c.686_699del (p.Leu229ArgfsTer12) c.660_673del n.1212_1225del c.1036_1049del (p.Phe346GlyfsTer?) | dbSNP |
| 4 | g.6300823T>A | CA356174101 | WFS1 | c.1064T>A (p.Phe355Tyr) c.1005T>A c.1028T>A (p.Phe343Tyr) c.779T>A (p.Phe260Tyr) c.687T>A (p.Leu229=) c.661T>A n.1213T>A c.1037T>A (p.Phe346Tyr) | dbSNP gnomAD v4 |
| 4 | g.6300823T>C | CA356174102 | WFS1 | c.1064T>C (p.Phe355Ser) c.1005T>C c.1028T>C (p.Phe343Ser) c.779T>C (p.Phe260Ser) c.687T>C (p.Leu229=) c.661T>C n.1213T>C c.1037T>C (p.Phe346Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300823T>G | CA356174103 | WFS1 | c.1064T>G (p.Phe355Cys) c.1005T>G c.1028T>G (p.Phe343Cys) c.779T>G (p.Phe260Cys) c.687T>G (p.Leu229=) c.661T>G n.1213T>G c.1037T>G (p.Phe346Cys) | |
| 4 | g.6300823T= | CA1435772237 | WFS1 | c.1064T= (p.Phe355=) c.1005T= c.1028T= (p.Phe343=) c.779T= (p.Phe260=) c.687T= (p.Leu229=) c.661T= n.1213T= c.1037T= (p.Phe346=) | |
| 4 | g.6300824C>A | CA356174104 | WFS1 | c.1065C>A (p.Phe355Leu) c.1006C>A c.1029C>A (p.Phe343Leu) c.780C>A (p.Phe260Leu) c.688C>A (p.Leu230Ile) c.662C>A n.1214C>A c.1038C>A (p.Phe346Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300824C= | CA1435772239 | WFS1 | c.1065C= (p.Phe355=) c.1006C= c.1029C= (p.Phe343=) c.780C= (p.Phe260=) c.688C= (p.Leu230=) c.662C= n.1214C= c.1038C= (p.Phe346=) | |
| 4 | g.6300824C>G | CA356174105 | WFS1 | c.1065C>G (p.Phe355Leu) c.1006C>G c.1029C>G (p.Phe343Leu) c.780C>G (p.Phe260Leu) c.688C>G (p.Leu230Val) c.662C>G n.1214C>G c.1038C>G (p.Phe346Leu) | gnomAD v4 |
| 4 | g.6300824C>T | CA2839196 | WFS1 | c.1065C>T (p.Phe355=) c.1006C>T c.1029C>T (p.Phe343=) c.780C>T (p.Phe260=) c.688C>T (p.Leu230Phe) c.662C>T n.1214C>T c.1038C>T (p.Phe346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300824dup | CA2586973604 | WFS1 | c.1065dup (p.Phe356LeufsTer?) c.1006dup c.1029dup (p.Phe344LeufsTer?) c.780dup (p.Phe261LeufsTer?) c.688dup (p.Leu230ProfsTer16) c.662dup n.1214dup c.1038dup (p.Phe347LeufsTer?) | |
| 4 | g.6300825T>A | CA356174106 | WFS1 | c.1066T>A (p.Phe356Ile) c.1007T>A c.1030T>A (p.Phe344Ile) c.781T>A (p.Phe261Ile) c.689T>A (p.Leu230His) c.663T>A n.1215T>A c.1039T>A (p.Phe347Ile) | |
| 4 | g.6300825T>C | CA356174107 | WFS1 | c.1066T>C (p.Phe356Leu) c.1007T>C c.1030T>C (p.Phe344Leu) c.781T>C (p.Phe261Leu) c.689T>C (p.Leu230Pro) c.663T>C n.1215T>C c.1039T>C (p.Phe347Leu) | |
| 4 | g.6300825T>G | CA356174108 | WFS1 | c.1066T>G (p.Phe356Val) c.1007T>G c.1030T>G (p.Phe344Val) c.781T>G (p.Phe261Val) c.689T>G (p.Leu230Arg) c.663T>G n.1215T>G c.1039T>G (p.Phe347Val) | gnomAD v4 |
| 4 | g.6300826del | CA2669843415 | WFS1 | c.1067del (p.Phe356SerfsTer15) c.1008del c.1031del (p.Phe344SerfsTer15) c.782del (p.Phe261SerfsTer15) c.690del (p.His231IlefsTer?) c.664del n.1216del c.1040del (p.Phe347SerfsTer15) | gnomAD v4 |
| 4 | g.6300826T>A | CA356174109 | WFS1 | c.1067T>A (p.Phe356Tyr) c.1008T>A c.1031T>A (p.Phe344Tyr) c.782T>A (p.Phe261Tyr) c.690T>A (p.Leu230=) c.664T>A n.1216T>A c.1040T>A (p.Phe347Tyr) | |
| 4 | g.6300826T>C | CA356174110 | WFS1 | c.1067T>C (p.Phe356Ser) c.1008T>C c.1031T>C (p.Phe344Ser) c.782T>C (p.Phe261Ser) c.690T>C (p.Leu230=) c.664T>C n.1216T>C c.1040T>C (p.Phe347Ser) | |
| 4 | g.6300826T>G | CA356174111 | WFS1 | c.1067T>G (p.Phe356Cys) c.1008T>G c.1031T>G (p.Phe344Cys) c.782T>G (p.Phe261Cys) c.690T>G (p.Leu230=) c.664T>G n.1216T>G c.1040T>G (p.Phe347Cys) | |
| 4 | g.6300826_6300831dup | CA2669843416 | WFS1 | c.1067_1072dup (p.Ile357_Pro358insLeuIle) c.1008_1013dup c.1031_1036dup (p.Ile345_Pro346insLeuIle) c.782_787dup (p.Ile262_Pro263insLeuIle) c.690_695dup (p.Pro232_Ala233insHisPro) c.664_669dup n.1216_1221dup c.1040_1045dup (p.Ile348_Pro349insLeuIle) | gnomAD v4 |
| 4 | g.6300827C>A | CA356174112 | WFS1 | c.1068C>A (p.Phe356Leu) c.1009C>A c.1032C>A (p.Phe344Leu) c.783C>A (p.Phe261Leu) c.691C>A (p.His231Asn) c.665C>A n.1217C>A c.1041C>A (p.Phe347Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300827C= | CA1435772242 | WFS1 | c.1068C= (p.Phe356=) c.1009C= c.1032C= (p.Phe344=) c.783C= (p.Phe261=) c.691C= (p.His231=) c.665C= n.1217C= c.1041C= (p.Phe347=) | |
| 4 | g.6300827C>G | CA356174113 | WFS1 | c.1068C>G (p.Phe356Leu) c.1009C>G c.1032C>G (p.Phe344Leu) c.783C>G (p.Phe261Leu) c.691C>G (p.His231Asp) c.665C>G n.1217C>G c.1041C>G (p.Phe347Leu) | |
| 4 | g.6300827C>T | CA2839197 | WFS1 | c.1068C>T (p.Phe356=) c.1009C>T c.1032C>T (p.Phe344=) c.783C>T (p.Phe261=) c.691C>T (p.His231Tyr) c.665C>T n.1217C>T c.1041C>T (p.Phe347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300828del | CA2669843417 | WFS1 | c.1069del (p.Ile357SerfsTer14) c.1010del c.1033del (p.Ile345SerfsTer14) c.784del (p.Ile262SerfsTer14) c.692del (p.His231LeufsTer?) c.666del n.1218del c.1042del (p.Ile348SerfsTer14) | gnomAD v4 |
| 4 | g.6300828A>C | CA356174114 | WFS1 | c.1069A>C (p.Ile357Leu) c.1010A>C c.1033A>C (p.Ile345Leu) c.784A>C (p.Ile262Leu) c.692A>C (p.His231Pro) c.666A>C n.1218A>C c.1042A>C (p.Ile348Leu) | |
| 4 | g.6300828A>G | CA356174115 | WFS1 | c.1069A>G (p.Ile357Val) c.1010A>G c.1033A>G (p.Ile345Val) c.784A>G (p.Ile262Val) c.692A>G (p.His231Arg) c.666A>G n.1218A>G c.1042A>G (p.Ile348Val) | |
| 4 | g.6300828A>T | CA356174116 | WFS1 | c.1069A>T (p.Ile357Phe) c.1010A>T c.1033A>T (p.Ile345Phe) c.784A>T (p.Ile262Phe) c.692A>T (p.His231Leu) c.666A>T n.1218A>T c.1042A>T (p.Ile348Phe) | |
| 4 | g.6300829T>A | CA356174118 | WFS1 | c.1070T>A (p.Ile357Asn) c.1011T>A c.1034T>A (p.Ile345Asn) c.785T>A (p.Ile262Asn) c.693T>A (p.His231Gln) c.667T>A n.1219T>A c.1043T>A (p.Ile348Asn) | |
| 4 | g.6300829T>C | CA356174119 | WFS1 | c.1070T>C (p.Ile357Thr) c.1011T>C c.1034T>C (p.Ile345Thr) c.785T>C (p.Ile262Thr) c.693T>C (p.His231=) c.667T>C n.1219T>C c.1043T>C (p.Ile348Thr) | gnomAD v4 |
| 4 | g.6300829T>G | CA356174117 | WFS1 | c.1070T>G (p.Ile357Ser) c.1011T>G c.1034T>G (p.Ile345Ser) c.785T>G (p.Ile262Ser) c.693T>G (p.His231Gln) c.667T>G n.1219T>G c.1043T>G (p.Ile348Ser) | dbSNP gnomAD v4 |
| 4 | g.6300829T= | CA1435772244 | WFS1 | c.1070T= (p.Ile357=) c.1011T= c.1034T= (p.Ile345=) c.785T= (p.Ile262=) c.693T= (p.His231=) c.667T= n.1219T= c.1043T= (p.Ile348=) | |
| 4 | g.6300830C>A | CA438367889 | WFS1 | c.1071C>A (p.Ile357=) c.1012C>A c.1035C>A (p.Ile345=) c.786C>A (p.Ile262=) c.694C>A (p.Pro232Thr) c.668C>A n.1220C>A c.1044C>A (p.Ile348=) | |
| 4 | g.6300830C>G | CA356174120 | WFS1 | c.1071C>G (p.Ile357Met) c.1012C>G c.1035C>G (p.Ile345Met) c.786C>G (p.Ile262Met) c.694C>G (p.Pro232Ala) c.668C>G n.1220C>G c.1044C>G (p.Ile348Met) | |
| 4 | g.6300830C>T | CA438367890 | WFS1 | c.1071C>T (p.Ile357=) c.1012C>T c.1035C>T (p.Ile345=) c.786C>T (p.Ile262=) c.694C>T (p.Pro232Ser) c.668C>T n.1220C>T c.1044C>T (p.Ile348=) | gnomAD v4 |
| 4 | g.6300832dup | CA2586973605 | WFS1 | c.1073dup (p.Leu359AlafsTer?) c.1014dup c.1037dup (p.Leu347AlafsTer?) c.788dup (p.Leu264AlafsTer?) c.696dup (p.Ala233ArgfsTer13) c.670dup n.1222dup c.1046dup (p.Leu350AlafsTer?) | |
| 4 | g.6300831C>A | CA356174121 | WFS1 | c.1072C>A (p.Pro358Thr) c.1013C>A c.1036C>A (p.Pro346Thr) c.787C>A (p.Pro263Thr) c.695C>A (p.Pro232His) c.669C>A n.1221C>A c.1045C>A (p.Pro349Thr) | |
| 4 | g.6300831C= | CA1435772246 | WFS1 | c.1072C= (p.Pro358=) c.1013C= c.1036C= (p.Pro346=) c.787C= (p.Pro263=) c.695C= (p.Pro232=) c.669C= n.1221C= c.1045C= (p.Pro349=) | |
| 4 | g.6300831C>G | CA356174122 | WFS1 | c.1072C>G (p.Pro358Ala) c.1013C>G c.1036C>G (p.Pro346Ala) c.787C>G (p.Pro263Ala) c.695C>G (p.Pro232Arg) c.669C>G n.1221C>G c.1045C>G (p.Pro349Ala) | gnomAD v4 |
| 4 | g.6300831C>T | CA356174123 | WFS1 | c.1072C>T (p.Pro358Ser) c.1013C>T c.1036C>T (p.Pro346Ser) c.787C>T (p.Pro263Ser) c.695C>T (p.Pro232Leu) c.669C>T n.1221C>T c.1045C>T (p.Pro349Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300832C>A | CA356174125 | WFS1 | c.1073C>A (p.Pro358Gln) c.1014C>A c.1037C>A (p.Pro346Gln) c.788C>A (p.Pro263Gln) c.696C>A (p.Pro232=) c.670C>A n.1222C>A c.1046C>A (p.Pro349Gln) | |
| 4 | g.6300832C= | CA1435772250 | WFS1 | c.1073C= (p.Pro358=) c.1014C= c.1037C= (p.Pro346=) c.788C= (p.Pro263=) c.696C= (p.Pro232=) c.670C= n.1222C= c.1046C= (p.Pro349=) | |
| 4 | g.6300832C>G | CA356174124 | WFS1 | c.1073C>G (p.Pro358Arg) c.1014C>G c.1037C>G (p.Pro346Arg) c.788C>G (p.Pro263Arg) c.696C>G (p.Pro232=) c.670C>G n.1222C>G c.1046C>G (p.Pro349Arg) | gnomAD v4 |
| 4 | g.6300832C>T | CA2839198 | WFS1 | c.1073C>T (p.Pro358Leu) c.1014C>T c.1037C>T (p.Pro346Leu) c.788C>T (p.Pro263Leu) c.696C>T (p.Pro232=) c.670C>T n.1222C>T c.1046C>T (p.Pro349Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300833G>A | CA2839199 | WFS1 | c.1074G>A (p.Pro358=) c.1015G>A c.1038G>A (p.Pro346=) c.789G>A (p.Pro263=) c.697G>A (p.Ala233Thr) c.671G>A n.1223G>A c.1047G>A (p.Pro349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300833G>C | CA438367894 | WFS1 | c.1074G>C (p.Pro358=) c.1015G>C c.1038G>C (p.Pro346=) c.789G>C (p.Pro263=) c.697G>C (p.Ala233Pro) c.671G>C n.1223G>C c.1047G>C (p.Pro349=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300833G= | CA1435772252 | WFS1 | c.1074G= (p.Pro358=) c.1015G= c.1038G= (p.Pro346=) c.789G= (p.Pro263=) c.697G= (p.Ala233=) c.671G= n.1223G= c.1047G= (p.Pro349=) | |
| 4 | g.6300833G>T | CA438367895 | WFS1 | c.1074G>T (p.Pro358=) c.1015G>T c.1038G>T (p.Pro346=) c.789G>T (p.Pro263=) c.697G>T (p.Ala233Ser) c.671G>T n.1223G>T c.1047G>T (p.Pro349=) | |
| 4 | g.6300834_6300836dup | CA1058891124 | WFS1 | c.1075_1077dup (p.Leu359_Val360insLeu) c.1016_1018dup c.1039_1041dup (p.Leu347_Val348insLeu) c.790_792dup (p.Leu264_Val265insLeu) c.698_700dup (p.Ala233_Gly234insAla) c.672_674dup n.1224_1226dup c.1048_1050dup (p.Leu350_Val351insLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300834C>A | CA356174126 | WFS1 | c.1075C>A (p.Leu359Met) c.1016C>A c.1039C>A (p.Leu347Met) c.790C>A (p.Leu264Met) c.698C>A (p.Ala233Asp) c.672C>A n.1224C>A c.1048C>A (p.Leu350Met) | |
| 4 | g.6300834C>G | CA356174127 | WFS1 | c.1075C>G (p.Leu359Val) c.1016C>G c.1039C>G (p.Leu347Val) c.790C>G (p.Leu264Val) c.698C>G (p.Ala233Gly) c.672C>G n.1224C>G c.1048C>G (p.Leu350Val) | |
| 4 | g.6300834C>T | CA438367896 | WFS1 | c.1075C>T (p.Leu359=) c.1016C>T c.1039C>T (p.Leu347=) c.790C>T (p.Leu264=) c.698C>T (p.Ala233Val) c.672C>T n.1224C>T c.1048C>T (p.Leu350=) | |
| 4 | g.6300835T>A | CA356174128 | WFS1 | c.1076T>A (p.Leu359Gln) c.1017T>A c.1040T>A (p.Leu347Gln) c.791T>A (p.Leu264Gln) c.699T>A (p.Ala233=) c.673T>A n.1225T>A c.1049T>A (p.Leu350Gln) | |
| 4 | g.6300835T>C | CA356174129 | WFS1 | c.1076T>C (p.Leu359Pro) c.1017T>C c.1040T>C (p.Leu347Pro) c.791T>C (p.Leu264Pro) c.699T>C (p.Ala233=) c.673T>C n.1225T>C c.1049T>C (p.Leu350Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300835T>G | CA356174130 | WFS1 | c.1076T>G (p.Leu359Arg) c.1017T>G c.1040T>G (p.Leu347Arg) c.791T>G (p.Leu264Arg) c.699T>G (p.Ala233=) c.673T>G n.1225T>G c.1049T>G (p.Leu350Arg) | |
| 4 | g.6300835T= | CA1435772256 | WFS1 | c.1076T= (p.Leu359=) c.1017T= c.1040T= (p.Leu347=) c.791T= (p.Leu264=) c.699T= (p.Ala233=) c.673T= n.1225T= c.1049T= (p.Leu350=) | |
| 4 | g.6300836G>A | CA2839200 | WFS1 | c.1077G>A (p.Leu359=) c.1018G>A c.1041G>A (p.Leu347=) c.792G>A (p.Leu264=) c.700G>A (p.Gly234Ser) c.674G>A n.1226G>A c.1050G>A (p.Leu350=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300836G>C | CA438367901 | WFS1 | c.1077G>C (p.Leu359=) c.1018G>C c.1041G>C (p.Leu347=) c.792G>C (p.Leu264=) c.700G>C (p.Gly234Arg) c.674G>C n.1226G>C c.1050G>C (p.Leu350=) | |
| 4 | g.6300836G= | CA1435772257 | WFS1 | c.1077G= (p.Leu359=) c.1018G= c.1041G= (p.Leu347=) c.792G= (p.Leu264=) c.700G= (p.Gly234=) c.674G= n.1226G= c.1050G= (p.Leu350=) | |
| 4 | g.6300836G>T | CA438367900 | WFS1 | c.1077G>T (p.Leu359=) c.1018G>T c.1041G>T (p.Leu347=) c.792G>T (p.Leu264=) c.700G>T (p.Gly234Cys) c.674G>T n.1226G>T c.1050G>T (p.Leu350=) | |
| 4 | g.6300837G>A | CA356174132 | WFS1 | c.1078G>A (p.Val360Ile) c.1019G>A c.1042G>A (p.Val348Ile) c.793G>A (p.Val265Ile) c.701G>A (p.Gly234Asp) c.675G>A n.1227G>A c.1051G>A (p.Val351Ile) | |
| 4 | g.6300837G>C | CA356174133 | WFS1 | c.1078G>C (p.Val360Leu) c.1019G>C c.1042G>C (p.Val348Leu) c.793G>C (p.Val265Leu) c.701G>C (p.Gly234Ala) c.675G>C n.1227G>C c.1051G>C (p.Val351Leu) | |
| 4 | g.6300837G>T | CA356174131 | WFS1 | c.1078G>T (p.Val360Phe) c.1019G>T c.1042G>T (p.Val348Phe) c.793G>T (p.Val265Phe) c.701G>T (p.Gly234Val) c.675G>T n.1227G>T c.1051G>T (p.Val351Phe) | |
| 4 | g.6300838T>A | CA356174134 | WFS1 | c.1079T>A (p.Val360Asp) c.1020T>A c.1043T>A (p.Val348Asp) c.794T>A (p.Val265Asp) c.702T>A (p.Gly234=) c.676T>A n.1228T>A c.1052T>A (p.Val351Asp) | |
| 4 | g.6300838T>C | CA356174136 | WFS1 | c.1079T>C (p.Val360Ala) c.1020T>C c.1043T>C (p.Val348Ala) c.794T>C (p.Val265Ala) c.702T>C (p.Gly234=) c.676T>C n.1228T>C c.1052T>C (p.Val351Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300838T>G | CA356174135 | WFS1 | c.1079T>G (p.Val360Gly) c.1020T>G c.1043T>G (p.Val348Gly) c.794T>G (p.Val265Gly) c.702T>G (p.Gly234=) c.676T>G n.1228T>G c.1052T>G (p.Val351Gly) | |
| 4 | g.6300838T= | CA1435772259 | WFS1 | c.1079T= (p.Val360=) c.1020T= c.1043T= (p.Val348=) c.794T= (p.Val265=) c.702T= (p.Gly234=) c.676T= n.1228T= c.1052T= (p.Val351=) | |
| 4 | g.6300844_6300861del | CA2669843418 | WFS1 | c.1085_1102del (p.Phe362_Ile367del) c.1026_1043del c.1049_1066del (p.Phe350_Ile355del) c.800_817del (p.Phe267_Ile272del) c.708_725del (p.Leu237_Leu242del) c.682_699del n.1234_1251del c.1058_1075del (p.Phe353_Ile358del) | gnomAD v4 |
| 4 | g.6300839C>A | CA438367903 | WFS1 | c.1080C>A (p.Val360=) c.1021C>A c.1044C>A (p.Val348=) c.795C>A (p.Val265=) c.703C>A (p.His235Asn) c.677C>A n.1229C>A c.1053C>A (p.Val351=) | |
| 4 | g.6300839C= | CA1435772261 | WFS1 | c.1080C= (p.Val360=) c.1021C= c.1044C= (p.Val348=) c.795C= (p.Val265=) c.703C= (p.His235=) c.677C= n.1229C= c.1053C= (p.Val351=) | |
| 4 | g.6300839C>G | CA2839201 | WFS1 | c.1080C>G (p.Val360=) c.1021C>G c.1044C>G (p.Val348=) c.795C>G (p.Val265=) c.703C>G (p.His235Asp) c.677C>G n.1229C>G c.1053C>G (p.Val351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300839C>T | CA438367904 | WFS1 | c.1080C>T (p.Val360=) c.1021C>T c.1044C>T (p.Val348=) c.795C>T (p.Val265=) c.703C>T (p.His235Tyr) c.677C>T n.1229C>T c.1053C>T (p.Val351=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300840A= | CA1435772263 | WFS1 | c.1081A= (p.Ile361=) c.1022A= c.1045A= (p.Ile349=) c.796A= (p.Ile266=) c.704A= (p.His235=) c.678A= n.1230A= c.1054A= (p.Ile352=) | |
| 4 | g.6300840A>C | CA356174138 | WFS1 | c.1081A>C (p.Ile361Leu) c.1022A>C c.1045A>C (p.Ile349Leu) c.796A>C (p.Ile266Leu) c.704A>C (p.His235Pro) c.678A>C n.1230A>C c.1054A>C (p.Ile352Leu) | |
| 4 | g.6300840A>G | CA356174137 | WFS1 | c.1081A>G (p.Ile361Val) c.1022A>G c.1045A>G (p.Ile349Val) c.796A>G (p.Ile266Val) c.704A>G (p.His235Arg) c.678A>G n.1230A>G c.1054A>G (p.Ile352Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300840A>T | CA356174139 | WFS1 | c.1081A>T (p.Ile361Phe) c.1022A>T c.1045A>T (p.Ile349Phe) c.796A>T (p.Ile266Phe) c.704A>T (p.His235Leu) c.678A>T n.1230A>T c.1054A>T (p.Ile352Phe) | |
| 4 | g.6300840_6300843delinsATCT | CA1435772264 | WFS1 | c.1081_1084delinsATCT (p.Ile361=) c.1022_1025delinsATCT c.1045_1048delinsATCT (p.Ile349=) c.796_799delinsATCT (p.Ile266=) c.704_707delinsATCT (p.His235=) c.678_681delinsATCT n.1230_1233delinsATCT c.1054_1057delinsATCT (p.Ile352=) | |
| 4 | g.6300841T>A | CA356174140 | WFS1 | c.1082T>A (p.Ile361Asn) c.1023T>A c.1046T>A (p.Ile349Asn) c.797T>A (p.Ile266Asn) c.705T>A (p.His235Gln) c.679T>A n.1231T>A c.1055T>A (p.Ile352Asn) | |
| 4 | g.6300841T>C | CA356174141 | WFS1 | c.1082T>C (p.Ile361Thr) c.1023T>C c.1046T>C (p.Ile349Thr) c.797T>C (p.Ile266Thr) c.705T>C (p.His235=) c.679T>C n.1231T>C c.1055T>C (p.Ile352Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300841T>G | CA356174142 | WFS1 | c.1082T>G (p.Ile361Ser) c.1023T>G c.1046T>G (p.Ile349Ser) c.797T>G (p.Ile266Ser) c.705T>G (p.His235Gln) c.679T>G n.1231T>G c.1055T>G (p.Ile352Ser) | |
| 4 | g.6300841T= | CA1435772268 | WFS1 | c.1082T= (p.Ile361=) c.1023T= c.1046T= (p.Ile349=) c.797T= (p.Ile266=) c.705T= (p.His235=) c.679T= n.1231T= c.1055T= (p.Ile352=) | |
| 4 | g.6300841_6300842delinsAG | CA2586973606 | WFS1 | c.1082_1083delinsAG (p.Ile361Lys) c.1023_1024delinsAG c.1046_1047delinsAG (p.Ile349Lys) c.797_798delinsAG (p.Ile266Lys) c.705_706delinsAG (p.His235_Leu236delinsGlnVal) c.679_680delinsAG n.1231_1232delinsAG c.1055_1056delinsAG (p.Ile352Lys) | |
| 4 | g.6300844_6300846del | CA438367905 | WFS1 | c.1085_1087del (p.Phe362del) c.1026_1028del c.1049_1051del (p.Phe350del) c.800_802del (p.Phe267del) c.708_710del (p.Leu237del) c.682_684del n.1234_1236del c.1058_1060del (p.Phe353del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300842C>A | CA438367907 | WFS1 | c.1083C>A (p.Ile361=) c.1024C>A c.1047C>A (p.Ile349=) c.798C>A (p.Ile266=) c.706C>A (p.Leu236Ile) c.680C>A n.1232C>A c.1056C>A (p.Ile352=) | |
| 4 | g.6300842C= | CA1435772270 | WFS1 | c.1083C= (p.Ile361=) c.1024C= c.1047C= (p.Ile349=) c.798C= (p.Ile266=) c.706C= (p.Leu236=) c.680C= n.1232C= c.1056C= (p.Ile352=) | |
| 4 | g.6300842C>G | CA356174143 | WFS1 | c.1083C>G (p.Ile361Met) c.1024C>G c.1047C>G (p.Ile349Met) c.798C>G (p.Ile266Met) c.706C>G (p.Leu236Val) c.680C>G n.1232C>G c.1056C>G (p.Ile352Met) | |
| 4 | g.6300842C>T | CA2839202 | WFS1 | c.1083C>T (p.Ile361=) c.1024C>T c.1047C>T (p.Ile349=) c.798C>T (p.Ile266=) c.706C>T (p.Leu236Phe) c.680C>T n.1232C>T c.1056C>T (p.Ile352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300843T>A | CA356174144 | WFS1 | c.1084T>A (p.Phe362Ile) c.1025T>A c.1048T>A (p.Phe350Ile) c.799T>A (p.Phe267Ile) c.707T>A (p.Leu236His) c.681T>A n.1233T>A c.1057T>A (p.Phe353Ile) | dbSNP gnomAD v4 |
| 4 | g.6300843T>C | CA356174145 | WFS1 | c.1084T>C (p.Phe362Leu) c.1025T>C c.1048T>C (p.Phe350Leu) c.799T>C (p.Phe267Leu) c.707T>C (p.Leu236Pro) c.681T>C n.1233T>C c.1057T>C (p.Phe353Leu) | |
| 4 | g.6300843T>G | CA356174146 | WFS1 | c.1084T>G (p.Phe362Val) c.1025T>G c.1048T>G (p.Phe350Val) c.799T>G (p.Phe267Val) c.707T>G (p.Leu236Arg) c.681T>G n.1233T>G c.1057T>G (p.Phe353Val) | |
| 4 | g.6300843T= | CA1435772272 | WFS1 | c.1084T= (p.Phe362=) c.1025T= c.1048T= (p.Phe350=) c.799T= (p.Phe267=) c.707T= (p.Leu236=) c.681T= n.1233T= c.1057T= (p.Phe353=) | |
| 4 | g.6300844T>A | CA356174147 | WFS1 | c.1085T>A (p.Phe362Tyr) c.1026T>A c.1049T>A (p.Phe350Tyr) c.800T>A (p.Phe267Tyr) c.708T>A (p.Leu236=) c.682T>A n.1234T>A c.1058T>A (p.Phe353Tyr) | |
| 4 | g.6300844T>C | CA356174148 | WFS1 | c.1085T>C (p.Phe362Ser) c.1026T>C c.1049T>C (p.Phe350Ser) c.800T>C (p.Phe267Ser) c.708T>C (p.Leu236=) c.682T>C n.1234T>C c.1058T>C (p.Phe353Ser) | |
| 4 | g.6300844T>G | CA356174149 | WFS1 | c.1085T>G (p.Phe362Cys) c.1026T>G c.1049T>G (p.Phe350Cys) c.800T>G (p.Phe267Cys) c.708T>G (p.Leu236=) c.682T>G n.1234T>G c.1058T>G (p.Phe353Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300844T= | CA1435772275 | WFS1 | c.1085T= (p.Phe362=) c.1026T= c.1049T= (p.Phe350=) c.800T= (p.Phe267=) c.708T= (p.Leu236=) c.682T= n.1234T= c.1058T= (p.Phe353=) | |
| 4 | g.6300844_6300848delinsTCTAC | CA1435772276 | WFS1 | c.1085_1089delinsTCTAC (p.Phe362=) c.1026_1030delinsTCTAC c.1049_1053delinsTCTAC (p.Phe350=) c.800_804delinsTCTAC (p.Phe267=) c.708_712delinsTCTAC (p.Leu236=) c.682_686delinsTCTAC n.1234_1238delinsTCTAC c.1058_1062delinsTCTAC (p.Phe353=) | |
| 4 | g.6300845C>A | CA356174150 | WFS1 | c.1086C>A (p.Phe362Leu) c.1027C>A c.1050C>A (p.Phe350Leu) c.801C>A (p.Phe267Leu) c.709C>A (p.Leu237Ile) c.683C>A n.1235C>A c.1059C>A (p.Phe353Leu) | |
| 4 | g.6300845C= | CA1435772278 | WFS1 | c.1086C= (p.Phe362=) c.1027C= c.1050C= (p.Phe350=) c.801C= (p.Phe267=) c.709C= (p.Leu237=) c.683C= n.1235C= c.1059C= (p.Phe353=) | |
| 4 | g.6300845C>G | CA2839203 | WFS1 | c.1086C>G (p.Phe362Leu) c.1027C>G c.1050C>G (p.Phe350Leu) c.801C>G (p.Phe267Leu) c.709C>G (p.Leu237Val) c.683C>G n.1235C>G c.1059C>G (p.Phe353Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300845C>T | CA438367911 | WFS1 | c.1086C>T (p.Phe362=) c.1027C>T c.1050C>T (p.Phe350=) c.801C>T (p.Phe267=) c.709C>T (p.Leu237=) c.683C>T n.1235C>T c.1059C>T (p.Phe353=) | |
| 4 | g.6300847_6300850del | CA549707895 | WFS1 | c.1088_1091del (p.Tyr363CysfsTer7) c.1029_1032del c.1052_1055del (p.Tyr351CysfsTer7) c.803_806del (p.Tyr268CysfsTer7) c.711_714del (p.Pro238SerfsTer?) c.685_688del n.1237_1240del c.1061_1064del (p.Tyr354CysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300846T>A | CA356174151 | WFS1 | c.1087T>A (p.Tyr363Asn) c.1028T>A c.1051T>A (p.Tyr351Asn) c.802T>A (p.Tyr268Asn) c.710T>A (p.Leu237Gln) c.684T>A n.1236T>A c.1060T>A (p.Tyr354Asn) | |
| 4 | g.6300846T>C | CA356174153 | WFS1 | c.1087T>C (p.Tyr363His) c.1028T>C c.1051T>C (p.Tyr351His) c.802T>C (p.Tyr268His) c.710T>C (p.Leu237Pro) c.684T>C n.1236T>C c.1060T>C (p.Tyr354His) | |
| 4 | g.6300846T>G | CA356174152 | WFS1 | c.1087T>G (p.Tyr363Asp) c.1028T>G c.1051T>G (p.Tyr351Asp) c.802T>G (p.Tyr268Asp) c.710T>G (p.Leu237Arg) c.684T>G n.1236T>G c.1060T>G (p.Tyr354Asp) | |
| 4 | g.6300847A= | CA1435772281 | WFS1 | c.1088A= (p.Tyr363=) c.1029A= c.1052A= (p.Tyr351=) c.803A= (p.Tyr268=) c.711A= (p.Leu237=) c.685A= n.1237A= c.1061A= (p.Tyr354=) | |
| 4 | g.6300847A>C | CA356174154 | WFS1 | c.1088A>C (p.Tyr363Ser) c.1029A>C c.1052A>C (p.Tyr351Ser) c.803A>C (p.Tyr268Ser) c.711A>C (p.Leu237=) c.685A>C n.1237A>C c.1061A>C (p.Tyr354Ser) | ClinVar |
| 4 | g.6300847A>G | CA2839204 | WFS1 | c.1088A>G (p.Tyr363Cys) c.1029A>G c.1052A>G (p.Tyr351Cys) c.803A>G (p.Tyr268Cys) c.711A>G (p.Leu237=) c.685A>G n.1237A>G c.1061A>G (p.Tyr354Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300847A>T | CA356174155 | WFS1 | c.1088A>T (p.Tyr363Phe) c.1029A>T c.1052A>T (p.Tyr351Phe) c.803A>T (p.Tyr268Phe) c.711A>T (p.Leu237=) c.685A>T n.1237A>T c.1061A>T (p.Tyr354Phe) | dbSNP gnomAD v2 |
| 4 | g.6300848C>A | CA356174156 | WFS1 | c.1089C>A (p.Tyr363Ter) c.1030C>A c.1053C>A (p.Tyr351Ter) c.804C>A (p.Tyr268Ter) c.712C>A (p.Pro238Thr) c.686C>A n.1238C>A c.1062C>A (p.Tyr354Ter) | |
| 4 | g.6300848C= | CA1435772283 | WFS1 | c.1089C= (p.Tyr363=) c.1030C= c.1053C= (p.Tyr351=) c.804C= (p.Tyr268=) c.712C= (p.Pro238=) c.686C= n.1238C= c.1062C= (p.Tyr354=) | |
| 4 | g.6300848C>G | CA356174157 | WFS1 | c.1089C>G (p.Tyr363Ter) c.1030C>G c.1053C>G (p.Tyr351Ter) c.804C>G (p.Tyr268Ter) c.712C>G (p.Pro238Ala) c.686C>G n.1238C>G c.1062C>G (p.Tyr354Ter) | |
| 4 | g.6300848C>T | CA438367913 | WFS1 | c.1089C>T (p.Tyr363=) c.1030C>T c.1053C>T (p.Tyr351=) c.804C>T (p.Tyr268=) c.712C>T (p.Pro238Ser) c.686C>T n.1238C>T c.1062C>T (p.Tyr354=) | dbSNP gnomAD v4 |
| 4 | g.6300849C>A | CA356174158 | WFS1 | c.1090C>A (p.Leu364Met) c.1031C>A c.1054C>A (p.Leu352Met) c.805C>A (p.Leu269Met) c.713C>A (p.Pro238His) c.687C>A n.1239C>A c.1063C>A (p.Leu355Met) | dbSNP |
| 4 | g.6300849C= | CA1435772286 | WFS1 | c.1090C= (p.Leu364=) c.1031C= c.1054C= (p.Leu352=) c.805C= (p.Leu269=) c.713C= (p.Pro238=) c.687C= n.1239C= c.1063C= (p.Leu355=) | |
| 4 | g.6300849C>G | CA356174159 | WFS1 | c.1090C>G (p.Leu364Val) c.1031C>G c.1054C>G (p.Leu352Val) c.805C>G (p.Leu269Val) c.713C>G (p.Pro238Arg) c.687C>G n.1239C>G c.1063C>G (p.Leu355Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300849C>T | CA438367914 | WFS1 | c.1090C>T (p.Leu364=) c.1031C>T c.1054C>T (p.Leu352=) c.805C>T (p.Leu269=) c.713C>T (p.Pro238Leu) c.687C>T n.1239C>T c.1063C>T (p.Leu355=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300850T>A | CA356174160 | WFS1 | c.1091T>A (p.Leu364Gln) c.1032T>A c.1055T>A (p.Leu352Gln) c.806T>A (p.Leu269Gln) c.714T>A (p.Pro238=) c.688T>A n.1240T>A c.1064T>A (p.Leu355Gln) | |
| 4 | g.6300850T>C | CA356174161 | WFS1 | c.1091T>C (p.Leu364Pro) c.1032T>C c.1055T>C (p.Leu352Pro) c.806T>C (p.Leu269Pro) c.714T>C (p.Pro238=) c.688T>C n.1240T>C c.1064T>C (p.Leu355Pro) | gnomAD v4 |
| 4 | g.6300850T>G | CA356174162 | WFS1 | c.1091T>G (p.Leu364Arg) c.1032T>G c.1055T>G (p.Leu352Arg) c.806T>G (p.Leu269Arg) c.714T>G (p.Pro238=) c.688T>G n.1240T>G c.1064T>G (p.Leu355Arg) | |
| 4 | g.6300851G>A | CA438367915 | WFS1 | c.1092G>A (p.Leu364=) c.1033G>A c.1056G>A (p.Leu352=) c.807G>A (p.Leu269=) c.715G>A (p.Val239Ile) c.689G>A n.1241G>A c.1065G>A (p.Leu355=) | gnomAD v4 COSMIC |
| 4 | g.6300851G>C | CA438367916 | WFS1 | c.1092G>C (p.Leu364=) c.1033G>C c.1056G>C (p.Leu352=) c.807G>C (p.Leu269=) c.715G>C (p.Val239Leu) c.689G>C n.1241G>C c.1065G>C (p.Leu355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300851G= | CA1435772288 | WFS1 | c.1092G= (p.Leu364=) c.1033G= c.1056G= (p.Leu352=) c.807G= (p.Leu269=) c.715G= (p.Val239=) c.689G= n.1241G= c.1065G= (p.Leu355=) | |
| 4 | g.6300851G>T | CA438367917 | WFS1 | c.1092G>T (p.Leu364=) c.1033G>T c.1056G>T (p.Leu352=) c.807G>T (p.Leu269=) c.715G>T (p.Val239Phe) c.689G>T n.1241G>T c.1065G>T (p.Leu355=) | |
| 4 | g.6300852T>A | CA356174165 | WFS1 | c.1093T>A (p.Ser365Thr) c.1034T>A c.1057T>A (p.Ser353Thr) c.808T>A (p.Ser270Thr) c.716T>A (p.Val239Asp) c.690T>A n.1242T>A c.1066T>A (p.Ser356Thr) | |
| 4 | g.6300852T>C | CA356174164 | WFS1 | c.1093T>C (p.Ser365Pro) c.1034T>C c.1057T>C (p.Ser353Pro) c.808T>C (p.Ser270Pro) c.716T>C (p.Val239Ala) c.690T>C n.1242T>C c.1066T>C (p.Ser356Pro) | |
| 4 | g.6300852T>G | CA356174163 | WFS1 | c.1093T>G (p.Ser365Ala) c.1034T>G c.1057T>G (p.Ser353Ala) c.808T>G (p.Ser270Ala) c.716T>G (p.Val239Gly) c.690T>G n.1242T>G c.1066T>G (p.Ser356Ala) | |
| 4 | g.6300853C>A | CA356174166 | WFS1 | c.1094C>A (p.Ser365Tyr) c.1035C>A c.1058C>A (p.Ser353Tyr) c.809C>A (p.Ser270Tyr) c.717C>A (p.Val239=) c.691C>A n.1243C>A c.1067C>A (p.Ser356Tyr) | |
| 4 | g.6300853C= | CA1435772292 | WFS1 | c.1094C= (p.Ser365=) c.1035C= c.1058C= (p.Ser353=) c.809C= (p.Ser270=) c.717C= (p.Val239=) c.691C= n.1243C= c.1067C= (p.Ser356=) | |
| 4 | g.6300853C>G | CA2839206 | WFS1 | c.1094C>G (p.Ser365Cys) c.1035C>G c.1058C>G (p.Ser353Cys) c.809C>G (p.Ser270Cys) c.717C>G (p.Val239=) c.691C>G n.1243C>G c.1067C>G (p.Ser356Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300853C>T | CA91796223 | WFS1 | c.1094C>T (p.Ser365Phe) c.1035C>T c.1058C>T (p.Ser353Phe) c.809C>T (p.Ser270Phe) c.717C>T (p.Val239=) c.691C>T n.1243C>T c.1067C>T (p.Ser356Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300853_6300856delinsCCTT | CA1435772290 | WFS1 | c.1094_1097delinsCCTT (p.Ser365=) c.1035_1038delinsCCTT c.1058_1061delinsCCTT (p.Ser353=) c.809_812delinsCCTT (p.Ser270=) c.717_720delinsCCTT (p.Val239=) c.691_694delinsCCTT n.1243_1246delinsCCTT c.1067_1070delinsCCTT (p.Ser356=) | |
| 4 | g.6300854C>A | CA438367921 | WFS1 | c.1095C>A (p.Ser365=) c.1036C>A c.1059C>A (p.Ser353=) c.810C>A (p.Ser270=) c.718C>A (p.Leu240Ile) c.692C>A n.1244C>A c.1068C>A (p.Ser356=) | ClinVar |
| 4 | g.6300854C= | CA1435772297 | WFS1 | c.1095C= (p.Ser365=) c.1036C= c.1059C= (p.Ser353=) c.810C= (p.Ser270=) c.718C= (p.Leu240=) c.692C= n.1244C= c.1068C= (p.Ser356=) | |
| 4 | g.6300854C>G | CA438367920 | WFS1 | c.1095C>G (p.Ser365=) c.1036C>G c.1059C>G (p.Ser353=) c.810C>G (p.Ser270=) c.718C>G (p.Leu240Val) c.692C>G n.1244C>G c.1068C>G (p.Ser356=) | |
| 4 | g.6300854C>T | CA2839207 | WFS1 | c.1095C>T (p.Ser365=) c.1036C>T c.1059C>T (p.Ser353=) c.810C>T (p.Ser270=) c.718C>T (p.Leu240Phe) c.692C>T n.1244C>T c.1068C>T (p.Ser356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300855_6300857del | CA2839205 | WFS1 | c.1096_1098del (p.Phe366del) c.1037_1039del c.1060_1062del (p.Phe354del) c.811_813del (p.Phe271del) c.719_721del (p.Leu240del) c.693_695del n.1245_1247del c.1069_1071del (p.Phe357del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300855T>A | CA356174167 | WFS1 | c.1096T>A (p.Phe366Ile) c.1037T>A c.1060T>A (p.Phe354Ile) c.811T>A (p.Phe271Ile) c.719T>A (p.Leu240His) c.693T>A n.1245T>A c.1069T>A (p.Phe357Ile) | |
| 4 | g.6300855T>C | CA356174168 | WFS1 | c.1096T>C (p.Phe366Leu) c.1037T>C c.1060T>C (p.Phe354Leu) c.811T>C (p.Phe271Leu) c.719T>C (p.Leu240Pro) c.693T>C n.1245T>C c.1069T>C (p.Phe357Leu) | gnomAD v4 |
| 4 | g.6300855T>G | CA356174169 | WFS1 | c.1096T>G (p.Phe366Val) c.1037T>G c.1060T>G (p.Phe354Val) c.811T>G (p.Phe271Val) c.719T>G (p.Leu240Arg) c.693T>G n.1245T>G c.1069T>G (p.Phe357Val) | |
| 4 | g.6300855_6300856insG | CA2669843419 | WFS1 | c.1096_1097insG (p.Phe366CysfsTer?) c.1037_1038insG c.1060_1061insG (p.Phe354CysfsTer?) c.811_812insG (p.Phe271CysfsTer?) c.719_720insG (p.His241SerfsTer5) c.693_694insG n.1245_1246insG c.1069_1070insG (p.Phe357CysfsTer?) | gnomAD v4 |
| 4 | g.6300856T>A | CA356174170 | WFS1 | c.1097T>A (p.Phe366Tyr) c.1038T>A c.1061T>A (p.Phe354Tyr) c.812T>A (p.Phe271Tyr) c.720T>A (p.Leu240=) c.694T>A n.1246T>A c.1070T>A (p.Phe357Tyr) | |
| 4 | g.6300856T>C | CA356174171 | WFS1 | c.1097T>C (p.Phe366Ser) c.1038T>C c.1061T>C (p.Phe354Ser) c.812T>C (p.Phe271Ser) c.720T>C (p.Leu240=) c.694T>C n.1246T>C c.1070T>C (p.Phe357Ser) | |
| 4 | g.6300856T>G | CA356174172 | WFS1 | c.1097T>G (p.Phe366Cys) c.1038T>G c.1061T>G (p.Phe354Cys) c.812T>G (p.Phe271Cys) c.720T>G (p.Leu240=) c.694T>G n.1246T>G c.1070T>G (p.Phe357Cys) | |
| 4 | g.6300857C>A | CA356174173 | WFS1 | c.1098C>A (p.Phe366Leu) c.1039C>A c.1062C>A (p.Phe354Leu) c.813C>A (p.Phe271Leu) c.721C>A (p.His241Asn) c.695C>A n.1247C>A c.1071C>A (p.Phe357Leu) | |
| 4 | g.6300857C= | CA1435772299 | WFS1 | c.1098C= (p.Phe366=) c.1039C= c.1062C= (p.Phe354=) c.813C= (p.Phe271=) c.721C= (p.His241=) c.695C= n.1247C= c.1071C= (p.Phe357=) | |
| 4 | g.6300857C>G | CA356174174 | WFS1 | c.1098C>G (p.Phe366Leu) c.1039C>G c.1062C>G (p.Phe354Leu) c.813C>G (p.Phe271Leu) c.721C>G (p.His241Asp) c.695C>G n.1247C>G c.1071C>G (p.Phe357Leu) | |
| 4 | g.6300857C>T | CA438367925 | WFS1 | c.1098C>T (p.Phe366=) c.1039C>T c.1062C>T (p.Phe354=) c.813C>T (p.Phe271=) c.721C>T (p.His241Tyr) c.695C>T n.1247C>T c.1071C>T (p.Phe357=) | dbSNP |
| 4 | g.6300858A= | CA1435772300 | WFS1 | c.1099A= (p.Ile367=) c.1040A= c.1063A= (p.Ile355=) c.814A= (p.Ile272=) c.722A= (p.His241=) c.696A= n.1248A= c.1072A= (p.Ile358=) | |
| 4 | g.6300858A>C | CA356174177 | WFS1 | c.1099A>C (p.Ile367Leu) c.1040A>C c.1063A>C (p.Ile355Leu) c.814A>C (p.Ile272Leu) c.722A>C (p.His241Pro) c.696A>C n.1248A>C c.1072A>C (p.Ile358Leu) | dbSNP gnomAD v4 |
| 4 | g.6300858A>G | CA356174175 | WFS1 | c.1099A>G (p.Ile367Val) c.1040A>G c.1063A>G (p.Ile355Val) c.814A>G (p.Ile272Val) c.722A>G (p.His241Arg) c.696A>G n.1248A>G c.1072A>G (p.Ile358Val) | ClinVar gnomAD v4 |
| 4 | g.6300858A>T | CA356174176 | WFS1 | c.1099A>T (p.Ile367Phe) c.1040A>T c.1063A>T (p.Ile355Phe) c.814A>T (p.Ile272Phe) c.722A>T (p.His241Leu) c.696A>T n.1248A>T c.1072A>T (p.Ile358Phe) | gnomAD v4 |
| 4 | g.6300859T>A | CA356174178 | WFS1 | c.1100T>A (p.Ile367Asn) c.1041T>A c.1064T>A (p.Ile355Asn) c.815T>A (p.Ile272Asn) c.723T>A (p.His241Gln) c.697T>A n.1249T>A c.1073T>A (p.Ile358Asn) | |
| 4 | g.6300859T>C | CA356174179 | WFS1 | c.1100T>C (p.Ile367Thr) c.1041T>C c.1064T>C (p.Ile355Thr) c.815T>C (p.Ile272Thr) c.723T>C (p.His241=) c.697T>C n.1249T>C c.1073T>C (p.Ile358Thr) | |
| 4 | g.6300859T>G | CA2839208 | WFS1 | c.1100T>G (p.Ile367Ser) c.1041T>G c.1064T>G (p.Ile355Ser) c.815T>G (p.Ile272Ser) c.723T>G (p.His241Gln) c.697T>G n.1249T>G c.1073T>G (p.Ile358Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300859T= | CA1435772302 | WFS1 | c.1100T= (p.Ile367=) c.1041T= c.1064T= (p.Ile355=) c.815T= (p.Ile272=) c.723T= (p.His241=) c.697T= n.1249T= c.1073T= (p.Ile358=) | |
| 4 | g.6300860C>A | CA2839209 | WFS1 | c.1101C>A (p.Ile367=) c.1042C>A c.1065C>A (p.Ile355=) c.816C>A (p.Ile272=) c.724C>A (p.Leu242Ile) c.698C>A n.1250C>A c.1074C>A (p.Ile358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300860C= | CA1435772304 | WFS1 | c.1101C= (p.Ile367=) c.1042C= c.1065C= (p.Ile355=) c.816C= (p.Ile272=) c.724C= (p.Leu242=) c.698C= n.1250C= c.1074C= (p.Ile358=) | |
| 4 | g.6300860C>G | CA356174180 | WFS1 | c.1101C>G (p.Ile367Met) c.1042C>G c.1065C>G (p.Ile355Met) c.816C>G (p.Ile272Met) c.724C>G (p.Leu242Val) c.698C>G n.1250C>G c.1074C>G (p.Ile358Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300860C>T | CA438367929 | WFS1 | c.1101C>T (p.Ile367=) c.1042C>T c.1065C>T (p.Ile355=) c.816C>T (p.Ile272=) c.724C>T (p.Leu242Phe) c.698C>T n.1250C>T c.1074C>T (p.Ile358=) | gnomAD v4 |
| 4 | g.6300861T>A | CA356174181 | WFS1 | c.1102T>A (p.Ser368Thr) c.1043T>A c.1066T>A (p.Ser356Thr) c.817T>A (p.Ser273Thr) c.725T>A (p.Leu242His) c.699T>A n.1251T>A c.1075T>A (p.Ser359Thr) | |
| 4 | g.6300861T>C | CA356174182 | WFS1 | c.1102T>C (p.Ser368Pro) c.1043T>C c.1066T>C (p.Ser356Pro) c.817T>C (p.Ser273Pro) c.725T>C (p.Leu242Pro) c.699T>C n.1251T>C c.1075T>C (p.Ser359Pro) | |
| 4 | g.6300861T>G | CA356174183 | WFS1 | c.1102T>G (p.Ser368Ala) c.1043T>G c.1066T>G (p.Ser356Ala) c.817T>G (p.Ser273Ala) c.725T>G (p.Leu242Arg) c.699T>G n.1251T>G c.1075T>G (p.Ser359Ala) | gnomAD v4 |
| 4 | g.6300862C>A | CA356174184 | WFS1 | c.1103C>A (p.Ser368Tyr) c.1044C>A c.1067C>A (p.Ser356Tyr) c.818C>A (p.Ser273Tyr) c.726C>A (p.Leu242=) c.700C>A n.1252C>A c.1076C>A (p.Ser359Tyr) | gnomAD v4 |
| 4 | g.6300862C= | CA1435772307 | WFS1 | c.1103C= (p.Ser368=) c.1044C= c.1067C= (p.Ser356=) c.818C= (p.Ser273=) c.726C= (p.Leu242=) c.700C= n.1252C= c.1076C= (p.Ser359=) | |
| 4 | g.6300862C>G | CA356174185 | WFS1 | c.1103C>G (p.Ser368Cys) c.1044C>G c.1067C>G (p.Ser356Cys) c.818C>G (p.Ser273Cys) c.726C>G (p.Leu242=) c.700C>G n.1252C>G c.1076C>G (p.Ser359Cys) | gnomAD v4 |
| 4 | g.6300862C>T | CA356174186 | WFS1 | c.1103C>T (p.Ser368Phe) c.1044C>T c.1067C>T (p.Ser356Phe) c.818C>T (p.Ser273Phe) c.726C>T (p.Leu242=) c.700C>T n.1252C>T c.1076C>T (p.Ser359Phe) | dbSNP |
| 4 | g.6300863C>A | CA438367931 | WFS1 | c.1104C>A (p.Ser368=) c.1045C>A c.1068C>A (p.Ser356=) c.819C>A (p.Ser273=) c.727C>A (p.His243Asn) c.701C>A n.1253C>A c.1077C>A (p.Ser359=) | |
| 4 | g.6300863C= | CA1435772309 | WFS1 | c.1104C= (p.Ser368=) c.1045C= c.1068C= (p.Ser356=) c.819C= (p.Ser273=) c.727C= (p.His243=) c.701C= n.1253C= c.1077C= (p.Ser359=) | |
| 4 | g.6300863C>G | CA438367932 | WFS1 | c.1104C>G (p.Ser368=) c.1045C>G c.1068C>G (p.Ser356=) c.819C>G (p.Ser273=) c.727C>G (p.His243Asp) c.701C>G n.1253C>G c.1077C>G (p.Ser359=) | |
| 4 | g.6300863C>T | CA2839210 | WFS1 | c.1104C>T (p.Ser368=) c.1045C>T c.1068C>T (p.Ser356=) c.819C>T (p.Ser273=) c.727C>T (p.His243Tyr) c.701C>T n.1253C>T c.1077C>T (p.Ser359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300864A>C | CA356174188 | WFS1 | c.1105A>C (p.Met369Leu) c.1046A>C c.1069A>C (p.Met357Leu) c.820A>C (p.Met274Leu) c.728A>C (p.His243Pro) c.702A>C n.1254A>C c.1078A>C (p.Met360Leu) | |
| 4 | g.6300864A>G | CA356174189 | WFS1 | c.1105A>G (p.Met369Val) c.1046A>G c.1069A>G (p.Met357Val) c.820A>G (p.Met274Val) c.728A>G (p.His243Arg) c.702A>G n.1254A>G c.1078A>G (p.Met360Val) | gnomAD v4 |
| 4 | g.6300864A>T | CA356174187 | WFS1 | c.1105A>T (p.Met369Leu) c.1046A>T c.1069A>T (p.Met357Leu) c.820A>T (p.Met274Leu) c.728A>T (p.His243Leu) c.702A>T n.1254A>T c.1078A>T (p.Met360Leu) | |
| 4 | g.6300865T>A | CA356174190 | WFS1 | c.1106T>A (p.Met369Lys) c.1047T>A c.1070T>A (p.Met357Lys) c.821T>A (p.Met274Lys) c.729T>A (p.His243Gln) c.703T>A n.1255T>A c.1079T>A (p.Met360Lys) | |
| 4 | g.6300865T>C | CA91796224 | WFS1 | c.1106T>C (p.Met369Thr) c.1047T>C c.1070T>C (p.Met357Thr) c.821T>C (p.Met274Thr) c.729T>C (p.His243=) c.703T>C n.1255T>C c.1079T>C (p.Met360Thr) | dbSNP gnomAD v4 |
| 4 | g.6300865T>G | CA356174191 | WFS1 | c.1106T>G (p.Met369Arg) c.1047T>G c.1070T>G (p.Met357Arg) c.821T>G (p.Met274Arg) c.729T>G (p.His243Gln) c.703T>G n.1255T>G c.1079T>G (p.Met360Arg) | |
| 4 | g.6300865T= | CA1435772311 | WFS1 | c.1106T= (p.Met369=) c.1047T= c.1070T= (p.Met357=) c.821T= (p.Met274=) c.729T= (p.His243=) c.703T= n.1255T= c.1079T= (p.Met360=) | |
| 4 | g.6300866G>A | CA356174192 | WFS1 | c.1107G>A (p.Met369Ile) c.1048G>A c.1071G>A (p.Met357Ile) c.822G>A (p.Met274Ile) c.730G>A (p.Gly244Ser) c.704G>A n.1256G>A c.1080G>A (p.Met360Ile) | gnomAD v4 |
| 4 | g.6300866G>C | CA356174193 | WFS1 | c.1107G>C (p.Met369Ile) c.1048G>C c.1071G>C (p.Met357Ile) c.822G>C (p.Met274Ile) c.730G>C (p.Gly244Arg) c.704G>C n.1256G>C c.1080G>C (p.Met360Ile) | |
| 4 | g.6300866G>T | CA356174194 | WFS1 | c.1107G>T (p.Met369Ile) c.1048G>T c.1071G>T (p.Met357Ile) c.822G>T (p.Met274Ile) c.730G>T (p.Gly244Cys) c.704G>T n.1256G>T c.1080G>T (p.Met360Ile) | |
| 4 | g.6300867G>A | CA356174195 | WFS1 | c.1108G>A (p.Val370Met) c.1049G>A c.1072G>A (p.Val358Met) c.823G>A (p.Val275Met) c.731G>A (p.Gly244Asp) c.705G>A n.1257G>A c.1081G>A (p.Val361Met) | |
| 4 | g.6300867G>C | CA91796225 | WFS1 | c.1108G>C (p.Val370Leu) c.1049G>C c.1072G>C (p.Val358Leu) c.823G>C (p.Val275Leu) c.731G>C (p.Gly244Ala) c.705G>C n.1257G>C c.1081G>C (p.Val361Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300867G= | CA1435772312 | WFS1 | c.1108G= (p.Val370=) c.1049G= c.1072G= (p.Val358=) c.823G= (p.Val275=) c.731G= (p.Gly244=) c.705G= n.1257G= c.1081G= (p.Val361=) | |
| 4 | g.6300867G>T | CA356174196 | WFS1 | c.1108G>T (p.Val370Leu) c.1049G>T c.1072G>T (p.Val358Leu) c.823G>T (p.Val275Leu) c.731G>T (p.Gly244Val) c.705G>T n.1257G>T c.1081G>T (p.Val361Leu) | |
| 4 | g.6300868T>A | CA356174197 | WFS1 | c.1109T>A (p.Val370Glu) c.1050T>A c.1073T>A (p.Val358Glu) c.824T>A (p.Val275Glu) c.732T>A (p.Gly244=) c.706T>A n.1258T>A c.1082T>A (p.Val361Glu) | |
| 4 | g.6300868T>C | CA356174198 | WFS1 | c.1109T>C (p.Val370Ala) c.1050T>C c.1073T>C (p.Val358Ala) c.824T>C (p.Val275Ala) c.732T>C (p.Gly244=) c.706T>C n.1258T>C c.1082T>C (p.Val361Ala) | |
| 4 | g.6300868T>G | CA356174199 | WFS1 | c.1109T>G (p.Val370Gly) c.1050T>G c.1073T>G (p.Val358Gly) c.824T>G (p.Val275Gly) c.732T>G (p.Gly244=) c.706T>G n.1258T>G c.1082T>G (p.Val361Gly) | |
| 4 | g.6300869del | CA2760284657 | WFS1 | c.1110del (p.Ile371SerfsTer?) c.1051del c.1074del (p.Ile359SerfsTer?) c.825del (p.Ile276SerfsTer?) c.733del (p.Asp245IlefsTer?) c.707del n.1259del c.1083del (p.Ile362SerfsTer?) | |
| 4 | g.6300869G>A | CA438367935 | WFS1 | c.1110G>A (p.Val370=) c.1051G>A c.1074G>A (p.Val358=) c.825G>A (p.Val275=) c.733G>A (p.Asp245Asn) c.707G>A n.1259G>A c.1083G>A (p.Val361=) | |
| 4 | g.6300869G>C | CA438367936 | WFS1 | c.1110G>C (p.Val370=) c.1051G>C c.1074G>C (p.Val358=) c.825G>C (p.Val275=) c.733G>C (p.Asp245His) c.707G>C n.1259G>C c.1083G>C (p.Val361=) | |
| 4 | g.6300869G>T | CA438367937 | WFS1 | c.1110G>T (p.Val370=) c.1051G>T c.1074G>T (p.Val358=) c.825G>T (p.Val275=) c.733G>T (p.Asp245Tyr) c.707G>T n.1259G>T c.1083G>T (p.Val361=) | |
| 4 | g.6300870A>C | CA356174200 | WFS1 | c.1111A>C (p.Ile371Leu) c.1052A>C c.1075A>C (p.Ile359Leu) c.826A>C (p.Ile276Leu) c.734A>C (p.Asp245Ala) c.708A>C n.1260A>C c.1084A>C (p.Ile362Leu) | |
| 4 | g.6300870A>G | CA356174201 | WFS1 | c.1111A>G (p.Ile371Val) c.1052A>G c.1075A>G (p.Ile359Val) c.826A>G (p.Ile276Val) c.734A>G (p.Asp245Gly) c.708A>G n.1260A>G c.1084A>G (p.Ile362Val) | |
| 4 | g.6300870A>T | CA356174202 | WFS1 | c.1111A>T (p.Ile371Phe) c.1052A>T c.1075A>T (p.Ile359Phe) c.826A>T (p.Ile276Phe) c.734A>T (p.Asp245Val) c.708A>T n.1260A>T c.1084A>T (p.Ile362Phe) | |
| 4 | g.6300871T>A | CA356174205 | WFS1 | c.1112T>A (p.Ile371Asn) c.1053T>A c.1076T>A (p.Ile359Asn) c.827T>A (p.Ile276Asn) c.735T>A (p.Asp245Glu) c.709T>A n.1261T>A c.1085T>A (p.Ile362Asn) | ClinVar dbSNP |
| 4 | g.6300871T>C | CA356174203 | WFS1 | c.1112T>C (p.Ile371Thr) c.1053T>C c.1076T>C (p.Ile359Thr) c.827T>C (p.Ile276Thr) c.735T>C (p.Asp245=) c.709T>C n.1261T>C c.1085T>C (p.Ile362Thr) | |
| 4 | g.6300871T>G | CA356174204 | WFS1 | c.1112T>G (p.Ile371Ser) c.1053T>G c.1076T>G (p.Ile359Ser) c.827T>G (p.Ile276Ser) c.735T>G (p.Asp245Glu) c.709T>G n.1261T>G c.1085T>G (p.Ile362Ser) | |
| 4 | g.6300871_6300874del | CA2760284658 | WFS1 | c.1112_1115del (p.Ile371ThrfsTer?) c.1053_1056del c.1076_1079del (p.Ile359ThrfsTer?) c.827_830del (p.Ile276ThrfsTer?) c.735_738del (p.Leu246ThrfsTer?) c.709_712del n.1261_1264del c.1085_1088del (p.Ile362ThrfsTer?) | |
| 4 | g.6300872C>A | CA438367941 | WFS1 | c.1113C>A (p.Ile371=) c.1054C>A c.1077C>A (p.Ile359=) c.828C>A (p.Ile276=) c.736C>A (p.Leu246Met) c.710C>A n.1262C>A c.1086C>A (p.Ile362=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300872C= | CA1435772315 | WFS1 | c.1113C= (p.Ile371=) c.1054C= c.1077C= (p.Ile359=) c.828C= (p.Ile276=) c.736C= (p.Leu246=) c.710C= n.1262C= c.1086C= (p.Ile362=) | |
| 4 | g.6300872C>G | CA356174206 | WFS1 | c.1113C>G (p.Ile371Met) c.1054C>G c.1077C>G (p.Ile359Met) c.828C>G (p.Ile276Met) c.736C>G (p.Leu246Val) c.710C>G n.1262C>G c.1086C>G (p.Ile362Met) | gnomAD v4 |
| 4 | g.6300872C>T | CA438367942 | WFS1 | c.1113C>T (p.Ile371=) c.1054C>T c.1077C>T (p.Ile359=) c.828C>T (p.Ile276=) c.736C>T (p.Leu246=) c.710C>T n.1262C>T c.1086C>T (p.Ile362=) | dbSNP gnomAD v4 |
| 4 | g.6300873T>A | CA356174207 | WFS1 | c.1114T>A (p.Cys372Ser) c.1055T>A c.1078T>A (p.Cys360Ser) c.829T>A (p.Cys277Ser) c.737T>A (p.Leu246Gln) c.711T>A n.1263T>A c.1087T>A (p.Cys363Ser) | |
| 4 | g.6300873T>C | CA356174208 | WFS1 | c.1114T>C (p.Cys372Arg) c.1055T>C c.1078T>C (p.Cys360Arg) c.829T>C (p.Cys277Arg) c.737T>C (p.Leu246Pro) c.711T>C n.1263T>C c.1087T>C (p.Cys363Arg) | ClinVar gnomAD v4 |
| 4 | g.6300873T>G | CA91796226 | WFS1 | c.1114T>G (p.Cys372Gly) c.1055T>G c.1078T>G (p.Cys360Gly) c.829T>G (p.Cys277Gly) c.737T>G (p.Leu246Arg) c.711T>G n.1263T>G c.1087T>G (p.Cys363Gly) | dbSNP gnomAD v4 |
| 4 | g.6300873T= | CA1435772316 | WFS1 | c.1114T= (p.Cys372=) c.1055T= c.1078T= (p.Cys360=) c.829T= (p.Cys277=) c.737T= (p.Leu246=) c.711T= n.1263T= c.1087T= (p.Cys363=) | |
| 4 | g.6300874G>A | CA2839211 | WFS1 | c.1115G>A (p.Cys372Tyr) c.1056G>A c.1079G>A (p.Cys360Tyr) c.830G>A (p.Cys277Tyr) c.738G>A (p.Leu246=) c.712G>A n.1264G>A c.1088G>A (p.Cys363Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300874G>C | CA356174209 | WFS1 | c.1115G>C (p.Cys372Ser) c.1056G>C c.1079G>C (p.Cys360Ser) c.830G>C (p.Cys277Ser) c.738G>C (p.Leu246=) c.712G>C n.1264G>C c.1088G>C (p.Cys363Ser) | gnomAD v4 |
| 4 | g.6300874G= | CA1435772319 | WFS1 | c.1115G= (p.Cys372=) c.1056G= c.1079G= (p.Cys360=) c.830G= (p.Cys277=) c.738G= (p.Leu246=) c.712G= n.1264G= c.1088G= (p.Cys363=) | |
| 4 | g.6300874G>T | CA356174210 | WFS1 | c.1115G>T (p.Cys372Phe) c.1056G>T c.1079G>T (p.Cys360Phe) c.830G>T (p.Cys277Phe) c.738G>T (p.Leu246=) c.712G>T n.1264G>T c.1088G>T (p.Cys363Phe) |