| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6300685_6300732dup | CA2580071757 | WFS1 | c.926_973dup (p.Met324_His325insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) c.867_914dup c.890_937dup (p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) c.641_688dup (p.Met229_His230insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) c.661-112_661-65dup (n.661-112_661-65dup) c.523_570dup n.1075_1122dup n.448_495dup c.899_946dup (p.Met315_His316insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) | ClinVar |
| 4 | g.6300732_6300736dup | CA2586973600 | WFS1 | c.973_977dup (p.Trp326CysfsTer?) c.914_918dup c.937_941dup (p.Trp314CysfsTer?) c.688_692dup (p.Trp231CysfsTer?) c.661-65_661-61dup (n.661-65_661-61dup) c.570_574dup n.1122_1126dup n.495_499dup c.946_950dup (p.Trp317CysfsTer?) | |
| 4 | g.6300732C>A | CA356173921 | WFS1 | c.973C>A (p.His325Asn) c.914C>A c.937C>A (p.His313Asn) c.688C>A (p.His230Asn) c.661-65C>A (n.661-65C>A) c.570C>A n.1122C>A n.495C>A c.946C>A (p.His316Asn) | |
| 4 | g.6300732C= | CA1435772073 | WFS1 | c.973C= (p.His325=) c.914C= c.937C= (p.His313=) c.688C= (p.His230=) c.661-65C= (n.661-65C=) c.570C= n.1122C= n.495C= c.946C= (p.His316=) | |
| 4 | g.6300732C>G | CA356173920 | WFS1 | c.973C>G (p.His325Asp) c.914C>G c.937C>G (p.His313Asp) c.688C>G (p.His230Asp) c.661-65C>G (n.661-65C>G) c.570C>G n.1122C>G n.495C>G c.946C>G (p.His316Asp) | |
| 4 | g.6300732C>T | CA10606914 | WFS1 | c.973C>T (p.His325Tyr) c.914C>T c.937C>T (p.His313Tyr) c.688C>T (p.His230Tyr) c.661-65C>T (n.661-65C>T) c.570C>T n.1122C>T n.495C>T c.946C>T (p.His316Tyr) | ClinVar dbSNP |
| 4 | g.6300733A>C | CA356173922 | WFS1 | c.974A>C (p.His325Pro) c.915A>C c.938A>C (p.His313Pro) c.689A>C (p.His230Pro) c.661-64A>C (n.661-64A>C) c.571A>C n.1123A>C n.496A>C c.947A>C (p.His316Pro) | ClinVar gnomAD v4 |
| 4 | g.6300733A>G | CA356173923 | WFS1 | c.974A>G (p.His325Arg) c.915A>G c.938A>G (p.His313Arg) c.689A>G (p.His230Arg) c.661-64A>G (n.661-64A>G) c.571A>G n.1123A>G n.496A>G c.947A>G (p.His316Arg) | |
| 4 | g.6300733A>T | CA356173924 | WFS1 | c.974A>T (p.His325Leu) c.915A>T c.938A>T (p.His313Leu) c.689A>T (p.His230Leu) c.661-64A>T (n.661-64A>T) c.571A>T n.1123A>T n.496A>T c.947A>T (p.His316Leu) | |
| 4 | g.6300734C>A | CA356173925 | WFS1 | c.975C>A (p.His325Gln) c.916C>A c.939C>A (p.His313Gln) c.690C>A (p.His230Gln) c.661-63C>A (n.661-63C>A) c.572C>A n.1124C>A n.497C>A c.948C>A (p.His316Gln) | |
| 4 | g.6300734C= | CA1435772075 | WFS1 | c.975C= (p.His325=) c.916C= c.939C= (p.His313=) c.690C= (p.His230=) c.661-63C= (n.661-63C=) c.572C= n.1124C= n.497C= c.948C= (p.His316=) | |
| 4 | g.6300734C>G | CA2839161 | WFS1 | c.975C>G (p.His325Gln) c.916C>G c.939C>G (p.His313Gln) c.690C>G (p.His230Gln) c.661-63C>G (n.661-63C>G) c.572C>G n.1124C>G n.497C>G c.948C>G (p.His316Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300734C>T | CA438211478 | WFS1 | c.975C>T (p.His325=) c.916C>T c.939C>T (p.His313=) c.690C>T (p.His230=) c.661-63C>T (n.661-63C>T) c.572C>T n.1124C>T n.497C>T c.948C>T (p.His316=) | dbSNP gnomAD v4 |
| 4 | g.6300735T>A | CA356173926 | WFS1 | c.976T>A (p.Trp326Arg) c.917T>A c.940T>A (p.Trp314Arg) c.691T>A (p.Trp231Arg) c.661-62T>A (n.661-62T>A) c.573T>A n.1125T>A n.498T>A c.949T>A (p.Trp317Arg) | |
| 4 | g.6300735T>C | CA356173927 | WFS1 | c.976T>C (p.Trp326Arg) c.917T>C c.940T>C (p.Trp314Arg) c.691T>C (p.Trp231Arg) c.661-62T>C (n.661-62T>C) c.573T>C n.1125T>C n.498T>C c.949T>C (p.Trp317Arg) | ClinVar dbSNP |
| 4 | g.6300735T>G | CA356173928 | WFS1 | c.976T>G (p.Trp326Gly) c.917T>G c.940T>G (p.Trp314Gly) c.691T>G (p.Trp231Gly) c.661-62T>G (n.661-62T>G) c.573T>G n.1125T>G n.498T>G c.949T>G (p.Trp317Gly) | |
| 4 | g.6300736G>A | CA356173929 | WFS1 | c.977G>A (p.Trp326Ter) c.918G>A c.941G>A (p.Trp314Ter) c.692G>A (p.Trp231Ter) c.661-61G>A (n.661-61G>A) c.574G>A n.1126G>A n.499G>A c.950G>A (p.Trp317Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6300736G>C | CA356173930 | WFS1 | c.977G>C (p.Trp326Ser) c.918G>C c.941G>C (p.Trp314Ser) c.692G>C (p.Trp231Ser) c.661-61G>C (n.661-61G>C) c.574G>C n.1126G>C n.499G>C c.950G>C (p.Trp317Ser) | |
| 4 | g.6300736G= | CA1435772077 | WFS1 | c.977G= (p.Trp326=) c.918G= c.941G= (p.Trp314=) c.692G= (p.Trp231=) c.661-61G= (n.661-61G=) c.574G= n.1126G= n.499G= c.950G= (p.Trp317=) | |
| 4 | g.6300736G>T | CA356173931 | WFS1 | c.977G>T (p.Trp326Leu) c.918G>T c.941G>T (p.Trp314Leu) c.692G>T (p.Trp231Leu) c.661-61G>T (n.661-61G>T) c.574G>T n.1126G>T n.499G>T c.950G>T (p.Trp317Leu) | |
| 4 | g.6300737G>A | CA356173934 | WFS1 | c.978G>A (p.Trp326Ter) c.919G>A c.942G>A (p.Trp314Ter) c.693G>A (p.Trp231Ter) c.661-60G>A (n.661-60G>A) c.575G>A n.1127G>A n.500G>A c.951G>A (p.Trp317Ter) | |
| 4 | g.6300737G>C | CA356173932 | WFS1 | c.978G>C (p.Trp326Cys) c.919G>C c.942G>C (p.Trp314Cys) c.693G>C (p.Trp231Cys) c.661-60G>C (n.661-60G>C) c.575G>C n.1127G>C n.500G>C c.951G>C (p.Trp317Cys) | |
| 4 | g.6300737G>T | CA356173933 | WFS1 | c.978G>T (p.Trp326Cys) c.919G>T c.942G>T (p.Trp314Cys) c.693G>T (p.Trp231Cys) c.661-60G>T (n.661-60G>T) c.575G>T n.1127G>T n.500G>T c.951G>T (p.Trp317Cys) | |
| 4 | g.6300738C>A | CA356173935 | WFS1 | c.979C>A (p.Leu327Met) c.920C>A c.943C>A (p.Leu315Met) c.694C>A (p.Leu232Met) c.661-59C>A (n.661-59C>A) c.576C>A n.1128C>A n.501C>A c.952C>A (p.Leu318Met) | |
| 4 | g.6300738C= | CA1435772079 | WFS1 | c.979C= (p.Leu327=) c.920C= c.943C= (p.Leu315=) c.694C= (p.Leu232=) c.661-59C= (n.661-59C=) c.576C= n.1128C= n.501C= c.952C= (p.Leu318=) | |
| 4 | g.6300738C>G | CA356173936 | WFS1 | c.979C>G (p.Leu327Val) c.920C>G c.943C>G (p.Leu315Val) c.694C>G (p.Leu232Val) c.661-59C>G (n.661-59C>G) c.576C>G n.1128C>G n.501C>G c.952C>G (p.Leu318Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300738C>T | CA2839162 | WFS1 | c.979C>T (p.Leu327=) c.920C>T c.943C>T (p.Leu315=) c.694C>T (p.Leu232=) c.661-59C>T (n.661-59C>T) c.576C>T n.1128C>T n.501C>T c.952C>T (p.Leu318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300739T>A | CA356173937 | WFS1 | c.980T>A (p.Leu327Gln) c.921T>A c.944T>A (p.Leu315Gln) c.695T>A (p.Leu232Gln) c.661-58T>A (n.661-58T>A) c.577T>A n.1129T>A n.502T>A c.953T>A (p.Leu318Gln) | |
| 4 | g.6300739T>C | CA356173939 | WFS1 | c.980T>C (p.Leu327Pro) c.921T>C c.944T>C (p.Leu315Pro) c.695T>C (p.Leu232Pro) c.661-58T>C (n.661-58T>C) c.577T>C n.1129T>C n.502T>C c.953T>C (p.Leu318Pro) | |
| 4 | g.6300739T>G | CA356173938 | WFS1 | c.980T>G (p.Leu327Arg) c.921T>G c.944T>G (p.Leu315Arg) c.695T>G (p.Leu232Arg) c.661-58T>G (n.661-58T>G) c.577T>G n.1129T>G n.502T>G c.953T>G (p.Leu318Arg) | |
| 4 | g.6300740G>A | CA438211479 | WFS1 | c.981G>A (p.Leu327=) c.922G>A c.945G>A (p.Leu315=) c.696G>A (p.Leu232=) c.661-57G>A (n.661-57G>A) c.578G>A n.1130G>A n.503G>A c.954G>A (p.Leu318=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6300740G>C | CA438211480 | WFS1 | c.981G>C (p.Leu327=) c.922G>C c.945G>C (p.Leu315=) c.696G>C (p.Leu232=) c.661-57G>C (n.661-57G>C) c.578G>C n.1130G>C n.503G>C c.954G>C (p.Leu318=) | gnomAD v4 |
| 4 | g.6300740G= | CA1435772081 | WFS1 | c.981G= (p.Leu327=) c.922G= c.945G= (p.Leu315=) c.696G= (p.Leu232=) c.661-57G= (n.661-57G=) c.578G= n.1130G= n.503G= c.954G= (p.Leu318=) | |
| 4 | g.6300740G>T | CA438211481 | WFS1 | c.981G>T (p.Leu327=) c.922G>T c.945G>T (p.Leu315=) c.696G>T (p.Leu232=) c.661-57G>T (n.661-57G>T) c.578G>T n.1130G>T n.503G>T c.954G>T (p.Leu318=) | |
| 4 | g.6300741T>A | CA356173940 | WFS1 | c.982T>A (p.Ser328Thr) c.923T>A c.946T>A (p.Ser316Thr) c.697T>A (p.Ser233Thr) c.661-56T>A (n.661-56T>A) c.579T>A n.1131T>A n.504T>A c.955T>A (p.Ser319Thr) | |
| 4 | g.6300741T>C | CA356173942 | WFS1 | c.982T>C (p.Ser328Pro) c.923T>C c.946T>C (p.Ser316Pro) c.697T>C (p.Ser233Pro) c.661-56T>C (n.661-56T>C) c.579T>C n.1131T>C n.504T>C c.955T>C (p.Ser319Pro) | |
| 4 | g.6300741T>G | CA356173941 | WFS1 | c.982T>G (p.Ser328Ala) c.923T>G c.946T>G (p.Ser316Ala) c.697T>G (p.Ser233Ala) c.661-56T>G (n.661-56T>G) c.579T>G n.1131T>G n.504T>G c.955T>G (p.Ser319Ala) | dbSNP |
| 4 | g.6300741T= | CA1435772085 | WFS1 | c.982T= (p.Ser328=) c.923T= c.946T= (p.Ser316=) c.697T= (p.Ser233=) c.661-56T= (n.661-56T=) c.579T= n.1131T= n.504T= c.955T= (p.Ser319=) | |
| 4 | g.6300741_6300744delinsTCCA | CA1435772084 | WFS1 | c.982_985delinsTCCA (p.Ser328=) c.923_926delinsTCCA c.946_949delinsTCCA (p.Ser316=) c.697_700delinsTCCA (p.Ser233=) c.661-56_661-53delinsTCCA (n.661-56_661-53delinsTCCA) c.579_582delinsTCCA n.1131_1134delinsTCCA n.504_507delinsTCCA c.955_958delinsTCCA (p.Ser319=) | |
| 4 | g.6300742C>A | CA356173943 | WFS1 | c.983C>A (p.Ser328Tyr) c.924C>A c.947C>A (p.Ser316Tyr) c.698C>A (p.Ser233Tyr) c.661-55C>A (n.661-55C>A) c.580C>A n.1132C>A n.505C>A c.956C>A (p.Ser319Tyr) | |
| 4 | g.6300742C= | CA1435772088 | WFS1 | c.983C= (p.Ser328=) c.924C= c.947C= (p.Ser316=) c.698C= (p.Ser233=) c.661-55C= (n.661-55C=) c.580C= n.1132C= n.505C= c.956C= (p.Ser319=) | |
| 4 | g.6300742C>G | CA91796213 | WFS1 | c.983C>G (p.Ser328Cys) c.924C>G c.947C>G (p.Ser316Cys) c.698C>G (p.Ser233Cys) c.661-55C>G (n.661-55C>G) c.580C>G n.1132C>G n.505C>G c.956C>G (p.Ser319Cys) | dbSNP |
| 4 | g.6300742C>T | CA91796212 | WFS1 | c.983C>T (p.Ser328Phe) c.924C>T c.947C>T (p.Ser316Phe) c.698C>T (p.Ser233Phe) c.661-55C>T (n.661-55C>T) c.580C>T n.1132C>T n.505C>T c.956C>T (p.Ser319Phe) | dbSNP |
| 4 | g.6300745_6300747del | CA2839163 | WFS1 | c.986_988del (p.Thr329del) c.927_929del c.950_952del (p.Thr317del) c.701_703del (p.Thr234del) c.661-52_661-50del (n.661-52_661-50del) c.583_585del n.1135_1137del n.508_510del c.959_961del (p.Thr320del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300743C>A | CA438211482 | WFS1 | c.984C>A (p.Ser328=) c.925C>A c.948C>A (p.Ser316=) c.699C>A (p.Ser233=) c.661-54C>A (n.661-54C>A) c.581C>A n.1133C>A n.506C>A c.957C>A (p.Ser319=) | |
| 4 | g.6300743C= | CA1435772090 | WFS1 | c.984C= (p.Ser328=) c.925C= c.948C= (p.Ser316=) c.699C= (p.Ser233=) c.661-54C= (n.661-54C=) c.581C= n.1133C= n.506C= c.957C= (p.Ser319=) | |
| 4 | g.6300743C>G | CA438211483 | WFS1 | c.984C>G (p.Ser328=) c.925C>G c.948C>G (p.Ser316=) c.699C>G (p.Ser233=) c.661-54C>G (n.661-54C>G) c.581C>G n.1133C>G n.506C>G c.957C>G (p.Ser319=) | |
| 4 | g.6300743C>T | CA2839164 | WFS1 | c.984C>T (p.Ser328=) c.925C>T c.948C>T (p.Ser316=) c.699C>T (p.Ser233=) c.661-54C>T (n.661-54C>T) c.581C>T n.1133C>T n.506C>T c.957C>T (p.Ser319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6300744A= | CA1435772092 | WFS1 | c.985A= (p.Thr329=) c.926A= c.949A= (p.Thr317=) c.700A= (p.Thr234=) c.661-53A= (n.661-53A=) c.582A= n.1134A= n.507A= c.958A= (p.Thr320=) | |
| 4 | g.6300744A>C | CA356173944 | WFS1 | c.985A>C (p.Thr329Pro) c.926A>C c.949A>C (p.Thr317Pro) c.700A>C (p.Thr234Pro) c.661-53A>C (n.661-53A>C) c.582A>C n.1134A>C n.507A>C c.958A>C (p.Thr320Pro) | dbSNP |