| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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 |