Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113118741A= | CA2120142581 | F7 | c.1068A= (p.Gly356=) c.1134A= (p.Gly378=) c.882A= (p.Gly294=) n.1155A= c.927A= (p.Gly309=) c.1176A= (p.Gly392=) c.990A= (p.Gly330=) c.828A= (p.Gly276=) c.1137A= (p.Gly379=) c.972A= (p.Gly324=) c.1221A= (p.Gly407=) c.1035A= (p.Gly345=) n.1152A= | |
13 | g.113118741A>C | CA485424026 | F7 | c.1068A>C (p.Gly356=) c.1134A>C (p.Gly378=) c.882A>C (p.Gly294=) n.1155A>C c.927A>C (p.Gly309=) c.1176A>C (p.Gly392=) c.990A>C (p.Gly330=) c.828A>C (p.Gly276=) c.1137A>C (p.Gly379=) c.972A>C (p.Gly324=) c.1221A>C (p.Gly407=) c.1035A>C (p.Gly345=) n.1152A>C | |
13 | g.113118741A>G | CA7060226 | F7 | c.1068A>G (p.Gly356=) c.1134A>G (p.Gly378=) c.882A>G (p.Gly294=) n.1155A>G c.927A>G (p.Gly309=) c.1176A>G (p.Gly392=) c.990A>G (p.Gly330=) c.828A>G (p.Gly276=) c.1137A>G (p.Gly379=) c.972A>G (p.Gly324=) c.1221A>G (p.Gly407=) c.1035A>G (p.Gly345=) n.1152A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118741A>T | CA485424027 | F7 | c.1068A>T (p.Gly356=) c.1134A>T (p.Gly378=) c.882A>T (p.Gly294=) n.1155A>T c.927A>T (p.Gly309=) c.1176A>T (p.Gly392=) c.990A>T (p.Gly330=) c.828A>T (p.Gly276=) c.1137A>T (p.Gly379=) c.972A>T (p.Gly324=) c.1221A>T (p.Gly407=) c.1035A>T (p.Gly345=) n.1152A>T | |
13 | g.113118742G>A | CA388786414 | F7 | c.1069G>A (p.Asp357Asn) c.1135G>A (p.Asp379Asn) c.883G>A (p.Asp295Asn) n.1156G>A c.928G>A (p.Asp310Asn) c.1177G>A (p.Asp393Asn) c.991G>A (p.Asp331Asn) c.829G>A (p.Asp277Asn) c.1138G>A (p.Asp380Asn) c.973G>A (p.Asp325Asn) c.1222G>A (p.Asp408Asn) c.1036G>A (p.Asp346Asn) n.1153G>A | |
13 | g.113118742G>C | CA388786412 | F7 | c.1069G>C (p.Asp357His) c.1135G>C (p.Asp379His) c.883G>C (p.Asp295His) n.1156G>C c.928G>C (p.Asp310His) c.1177G>C (p.Asp393His) c.991G>C (p.Asp331His) c.829G>C (p.Asp277His) c.1138G>C (p.Asp380His) c.973G>C (p.Asp325His) c.1222G>C (p.Asp408His) c.1036G>C (p.Asp346His) n.1153G>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118742G= | CA2120142586 | F7 | c.1069G= (p.Asp357=) c.1135G= (p.Asp379=) c.883G= (p.Asp295=) n.1156G= c.928G= (p.Asp310=) c.1177G= (p.Asp393=) c.991G= (p.Asp331=) c.829G= (p.Asp277=) c.1138G= (p.Asp380=) c.973G= (p.Asp325=) c.1222G= (p.Asp408=) c.1036G= (p.Asp346=) n.1153G= | |
13 | g.113118742G>T | CA388786413 | F7 | c.1069G>T (p.Asp357Tyr) c.1135G>T (p.Asp379Tyr) c.883G>T (p.Asp295Tyr) n.1156G>T c.928G>T (p.Asp310Tyr) c.1177G>T (p.Asp393Tyr) c.991G>T (p.Asp331Tyr) c.829G>T (p.Asp277Tyr) c.1138G>T (p.Asp380Tyr) c.973G>T (p.Asp325Tyr) c.1222G>T (p.Asp408Tyr) c.1036G>T (p.Asp346Tyr) n.1153G>T | |
13 | g.113118743A>C | CA388786415 | F7 | c.1070A>C (p.Asp357Ala) c.1136A>C (p.Asp379Ala) c.884A>C (p.Asp295Ala) n.1157A>C c.929A>C (p.Asp310Ala) c.1178A>C (p.Asp393Ala) c.992A>C (p.Asp331Ala) c.830A>C (p.Asp277Ala) c.1139A>C (p.Asp380Ala) c.974A>C (p.Asp325Ala) c.1223A>C (p.Asp408Ala) c.1037A>C (p.Asp346Ala) n.1154A>C | |
13 | g.113118743A>G | CA388786416 | F7 | c.1070A>G (p.Asp357Gly) c.1136A>G (p.Asp379Gly) c.884A>G (p.Asp295Gly) n.1157A>G c.929A>G (p.Asp310Gly) c.1178A>G (p.Asp393Gly) c.992A>G (p.Asp331Gly) c.830A>G (p.Asp277Gly) c.1139A>G (p.Asp380Gly) c.974A>G (p.Asp325Gly) c.1223A>G (p.Asp408Gly) c.1037A>G (p.Asp346Gly) n.1154A>G | gnomAD v4 |
13 | g.113118743A>T | CA388786417 | F7 | c.1070A>T (p.Asp357Val) c.1136A>T (p.Asp379Val) c.884A>T (p.Asp295Val) n.1157A>T c.929A>T (p.Asp310Val) c.1178A>T (p.Asp393Val) c.992A>T (p.Asp331Val) c.830A>T (p.Asp277Val) c.1139A>T (p.Asp380Val) c.974A>T (p.Asp325Val) c.1223A>T (p.Asp408Val) c.1037A>T (p.Asp346Val) n.1154A>T | |
13 | g.113118744C>A | CA388786418 | F7 | c.1071C>A (p.Asp357Glu) c.1137C>A (p.Asp379Glu) c.885C>A (p.Asp295Glu) n.1158C>A c.930C>A (p.Asp310Glu) c.1179C>A (p.Asp393Glu) c.993C>A (p.Asp331Glu) c.831C>A (p.Asp277Glu) c.1140C>A (p.Asp380Glu) c.975C>A (p.Asp325Glu) c.1224C>A (p.Asp408Glu) c.1038C>A (p.Asp346Glu) n.1155C>A | gnomAD v4 |
13 | g.113118744C= | CA2120142589 | F7 | c.1071C= (p.Asp357=) c.1137C= (p.Asp379=) c.885C= (p.Asp295=) n.1158C= c.930C= (p.Asp310=) c.1179C= (p.Asp393=) c.993C= (p.Asp331=) c.831C= (p.Asp277=) c.1140C= (p.Asp380=) c.975C= (p.Asp325=) c.1224C= (p.Asp408=) c.1038C= (p.Asp346=) n.1155C= | |
13 | g.113118744C>G | CA388786419 | F7 | c.1071C>G (p.Asp357Glu) c.1137C>G (p.Asp379Glu) c.885C>G (p.Asp295Glu) n.1158C>G c.930C>G (p.Asp310Glu) c.1179C>G (p.Asp393Glu) c.993C>G (p.Asp331Glu) c.831C>G (p.Asp277Glu) c.1140C>G (p.Asp380Glu) c.975C>G (p.Asp325Glu) c.1224C>G (p.Asp408Glu) c.1038C>G (p.Asp346Glu) n.1155C>G | dbSNP |
13 | g.113118744C>T | CA485424028 | F7 | c.1071C>T (p.Asp357=) c.1137C>T (p.Asp379=) c.885C>T (p.Asp295=) n.1158C>T c.930C>T (p.Asp310=) c.1179C>T (p.Asp393=) c.993C>T (p.Asp331=) c.831C>T (p.Asp277=) c.1140C>T (p.Asp380=) c.975C>T (p.Asp325=) c.1224C>T (p.Asp408=) c.1038C>T (p.Asp346=) n.1155C>T | gnomAD v4 |
13 | g.113118745T>A | CA388786420 | F7 | c.1072T>A (p.Ser358Thr) c.1138T>A (p.Ser380Thr) c.886T>A (p.Ser296Thr) n.1159T>A c.931T>A (p.Ser311Thr) c.1180T>A (p.Ser394Thr) c.994T>A (p.Ser332Thr) c.832T>A (p.Ser278Thr) c.1141T>A (p.Ser381Thr) c.976T>A (p.Ser326Thr) c.1225T>A (p.Ser409Thr) c.1039T>A (p.Ser347Thr) n.1156T>A | |
13 | g.113118745T>C | CA388786421 | F7 | c.1072T>C (p.Ser358Pro) c.1138T>C (p.Ser380Pro) c.886T>C (p.Ser296Pro) n.1159T>C c.931T>C (p.Ser311Pro) c.1180T>C (p.Ser394Pro) c.994T>C (p.Ser332Pro) c.832T>C (p.Ser278Pro) c.1141T>C (p.Ser381Pro) c.976T>C (p.Ser326Pro) c.1225T>C (p.Ser409Pro) c.1039T>C (p.Ser347Pro) n.1156T>C | |
13 | g.113118745T>G | CA388786422 | F7 | c.1072T>G (p.Ser358Ala) c.1138T>G (p.Ser380Ala) c.886T>G (p.Ser296Ala) n.1159T>G c.931T>G (p.Ser311Ala) c.1180T>G (p.Ser394Ala) c.994T>G (p.Ser332Ala) c.832T>G (p.Ser278Ala) c.1141T>G (p.Ser381Ala) c.976T>G (p.Ser326Ala) c.1225T>G (p.Ser409Ala) c.1039T>G (p.Ser347Ala) n.1156T>G | |
13 | g.113118746C>A | CA388786423 | F7 | c.1073C>A (p.Ser358Tyr) c.1139C>A (p.Ser380Tyr) c.887C>A (p.Ser296Tyr) n.1160C>A c.932C>A (p.Ser311Tyr) c.1181C>A (p.Ser394Tyr) c.995C>A (p.Ser332Tyr) c.833C>A (p.Ser278Tyr) c.1142C>A (p.Ser381Tyr) c.977C>A (p.Ser326Tyr) c.1226C>A (p.Ser409Tyr) c.1040C>A (p.Ser347Tyr) n.1157C>A | |
13 | g.113118746C= | CA2120142593 | F7 | c.1073C= (p.Ser358=) c.1139C= (p.Ser380=) c.887C= (p.Ser296=) n.1160C= c.932C= (p.Ser311=) c.1181C= (p.Ser394=) c.995C= (p.Ser332=) c.833C= (p.Ser278=) c.1142C= (p.Ser381=) c.977C= (p.Ser326=) c.1226C= (p.Ser409=) c.1040C= (p.Ser347=) n.1157C= | |
13 | g.113118746C>G | CA388786424 | F7 | c.1073C>G (p.Ser358Cys) c.1139C>G (p.Ser380Cys) c.887C>G (p.Ser296Cys) n.1160C>G c.932C>G (p.Ser311Cys) c.1181C>G (p.Ser394Cys) c.995C>G (p.Ser332Cys) c.833C>G (p.Ser278Cys) c.1142C>G (p.Ser381Cys) c.977C>G (p.Ser326Cys) c.1226C>G (p.Ser409Cys) c.1040C>G (p.Ser347Cys) n.1157C>G | |
13 | g.113118746C>T | CA388786425 | F7 | c.1073C>T (p.Ser358Phe) c.1139C>T (p.Ser380Phe) c.887C>T (p.Ser296Phe) n.1160C>T c.932C>T (p.Ser311Phe) c.1181C>T (p.Ser394Phe) c.995C>T (p.Ser332Phe) c.833C>T (p.Ser278Phe) c.1142C>T (p.Ser381Phe) c.977C>T (p.Ser326Phe) c.1226C>T (p.Ser409Phe) c.1040C>T (p.Ser347Phe) n.1157C>T | dbSNP |
13 | g.113118747C>A | CA485424029 | F7 | c.1074C>A (p.Ser358=) c.1140C>A (p.Ser380=) c.888C>A (p.Ser296=) n.1161C>A c.933C>A (p.Ser311=) c.1182C>A (p.Ser394=) c.996C>A (p.Ser332=) c.834C>A (p.Ser278=) c.1143C>A (p.Ser381=) c.978C>A (p.Ser326=) c.1227C>A (p.Ser409=) c.1041C>A (p.Ser347=) n.1158C>A | |
13 | g.113118747C>G | CA485424030 | F7 | c.1074C>G (p.Ser358=) c.1140C>G (p.Ser380=) c.888C>G (p.Ser296=) n.1161C>G c.933C>G (p.Ser311=) c.1182C>G (p.Ser394=) c.996C>G (p.Ser332=) c.834C>G (p.Ser278=) c.1143C>G (p.Ser381=) c.978C>G (p.Ser326=) c.1227C>G (p.Ser409=) c.1041C>G (p.Ser347=) n.1158C>G | |
13 | g.113118747C>T | CA485424031 | F7 | c.1074C>T (p.Ser358=) c.1140C>T (p.Ser380=) c.888C>T (p.Ser296=) n.1161C>T c.933C>T (p.Ser311=) c.1182C>T (p.Ser394=) c.996C>T (p.Ser332=) c.834C>T (p.Ser278=) c.1143C>T (p.Ser381=) c.978C>T (p.Ser326=) c.1227C>T (p.Ser409=) c.1041C>T (p.Ser347=) n.1158C>T | gnomAD v4 |
13 | g.113118748C>A | CA388786427 | F7 | c.1075C>A (p.Pro359Thr) c.1141C>A (p.Pro381Thr) c.889C>A (p.Pro297Thr) n.1162C>A c.934C>A (p.Pro312Thr) c.1183C>A (p.Pro395Thr) c.997C>A (p.Pro333Thr) c.835C>A (p.Pro279Thr) c.1144C>A (p.Pro382Thr) c.979C>A (p.Pro327Thr) c.1228C>A (p.Pro410Thr) c.1042C>A (p.Pro348Thr) n.1159C>A | gnomAD v4 |
13 | g.113118748C= | CA2120142598 | F7 | c.1075C= (p.Pro359=) c.1141C= (p.Pro381=) c.889C= (p.Pro297=) n.1162C= c.934C= (p.Pro312=) c.1183C= (p.Pro395=) c.997C= (p.Pro333=) c.835C= (p.Pro279=) c.1144C= (p.Pro382=) c.979C= (p.Pro327=) c.1228C= (p.Pro410=) c.1042C= (p.Pro348=) n.1159C= | |
13 | g.113118748C>G | CA388786426 | F7 | c.1075C>G (p.Pro359Ala) c.1141C>G (p.Pro381Ala) c.889C>G (p.Pro297Ala) n.1162C>G c.934C>G (p.Pro312Ala) c.1183C>G (p.Pro395Ala) c.997C>G (p.Pro333Ala) c.835C>G (p.Pro279Ala) c.1144C>G (p.Pro382Ala) c.979C>G (p.Pro327Ala) c.1228C>G (p.Pro410Ala) c.1042C>G (p.Pro348Ala) n.1159C>G | |
13 | g.113118748C>T | CA7060227 | F7 | c.1075C>T (p.Pro359Ser) c.1141C>T (p.Pro381Ser) c.889C>T (p.Pro297Ser) n.1162C>T c.934C>T (p.Pro312Ser) c.1183C>T (p.Pro395Ser) c.997C>T (p.Pro333Ser) c.835C>T (p.Pro279Ser) c.1144C>T (p.Pro382Ser) c.979C>T (p.Pro327Ser) c.1228C>T (p.Pro410Ser) c.1042C>T (p.Pro348Ser) n.1159C>T | dbSNP ExAC gnomAD v2 |
13 | g.113118749C>A | CA388786428 | F7 | c.1076C>A (p.Pro359Gln) c.1142C>A (p.Pro381Gln) c.890C>A (p.Pro297Gln) n.1163C>A c.935C>A (p.Pro312Gln) c.1184C>A (p.Pro395Gln) c.998C>A (p.Pro333Gln) c.836C>A (p.Pro279Gln) c.1145C>A (p.Pro382Gln) c.980C>A (p.Pro327Gln) c.1229C>A (p.Pro410Gln) c.1043C>A (p.Pro348Gln) n.1160C>A | |
13 | g.113118749C>G | CA388786430 | F7 | c.1076C>G (p.Pro359Arg) c.1142C>G (p.Pro381Arg) c.890C>G (p.Pro297Arg) n.1163C>G c.935C>G (p.Pro312Arg) c.1184C>G (p.Pro395Arg) c.998C>G (p.Pro333Arg) c.836C>G (p.Pro279Arg) c.1145C>G (p.Pro382Arg) c.980C>G (p.Pro327Arg) c.1229C>G (p.Pro410Arg) c.1043C>G (p.Pro348Arg) n.1160C>G | |
13 | g.113118749C>T | CA388786429 | F7 | c.1076C>T (p.Pro359Leu) c.1142C>T (p.Pro381Leu) c.890C>T (p.Pro297Leu) n.1163C>T c.935C>T (p.Pro312Leu) c.1184C>T (p.Pro395Leu) c.998C>T (p.Pro333Leu) c.836C>T (p.Pro279Leu) c.1145C>T (p.Pro382Leu) c.980C>T (p.Pro327Leu) c.1229C>T (p.Pro410Leu) c.1043C>T (p.Pro348Leu) n.1160C>T | dbSNP |
13 | g.113118750A>C | CA485424032 | F7 | c.1077A>C (p.Pro359=) c.1143A>C (p.Pro381=) c.891A>C (p.Pro297=) n.1164A>C c.936A>C (p.Pro312=) c.1185A>C (p.Pro395=) c.999A>C (p.Pro333=) c.837A>C (p.Pro279=) c.1146A>C (p.Pro382=) c.981A>C (p.Pro327=) c.1230A>C (p.Pro410=) c.1044A>C (p.Pro348=) n.1161A>C | |
13 | g.113118750A>G | CA485424033 | F7 | c.1077A>G (p.Pro359=) c.1143A>G (p.Pro381=) c.891A>G (p.Pro297=) n.1164A>G c.936A>G (p.Pro312=) c.1185A>G (p.Pro395=) c.999A>G (p.Pro333=) c.837A>G (p.Pro279=) c.1146A>G (p.Pro382=) c.981A>G (p.Pro327=) c.1230A>G (p.Pro410=) c.1044A>G (p.Pro348=) n.1161A>G | |
13 | g.113118750A>T | CA485424034 | F7 | c.1077A>T (p.Pro359=) c.1143A>T (p.Pro381=) c.891A>T (p.Pro297=) n.1164A>T c.936A>T (p.Pro312=) c.1185A>T (p.Pro395=) c.999A>T (p.Pro333=) c.837A>T (p.Pro279=) c.1146A>T (p.Pro382=) c.981A>T (p.Pro327=) c.1230A>T (p.Pro410=) c.1044A>T (p.Pro348=) n.1161A>T | |
13 | g.113118751A= | CA2120142601 | F7 | c.1078A= (p.Asn360=) c.1144A= (p.Asn382=) c.892A= (p.Asn298=) n.1165A= c.937A= (p.Asn313=) c.1186A= (p.Asn396=) c.1000A= (p.Asn334=) c.838A= (p.Asn280=) c.1147A= (p.Asn383=) c.982A= (p.Asn328=) c.1231A= (p.Asn411=) c.1045A= (p.Asn349=) n.1162A= | |
13 | g.113118751A>C | CA388786431 | F7 | c.1078A>C (p.Asn360His) c.1144A>C (p.Asn382His) c.892A>C (p.Asn298His) n.1165A>C c.937A>C (p.Asn313His) c.1186A>C (p.Asn396His) c.1000A>C (p.Asn334His) c.838A>C (p.Asn280His) c.1147A>C (p.Asn383His) c.982A>C (p.Asn328His) c.1231A>C (p.Asn411His) c.1045A>C (p.Asn349His) n.1162A>C | dbSNP gnomAD v4 |
13 | g.113118751A>G | CA7060228 | F7 | c.1078A>G (p.Asn360Asp) c.1144A>G (p.Asn382Asp) c.892A>G (p.Asn298Asp) n.1165A>G c.937A>G (p.Asn313Asp) c.1186A>G (p.Asn396Asp) c.1000A>G (p.Asn334Asp) c.838A>G (p.Asn280Asp) c.1147A>G (p.Asn383Asp) c.982A>G (p.Asn328Asp) c.1231A>G (p.Asn411Asp) c.1045A>G (p.Asn349Asp) n.1162A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118751A>T | CA388786432 | F7 | c.1078A>T (p.Asn360Tyr) c.1144A>T (p.Asn382Tyr) c.892A>T (p.Asn298Tyr) n.1165A>T c.937A>T (p.Asn313Tyr) c.1186A>T (p.Asn396Tyr) c.1000A>T (p.Asn334Tyr) c.838A>T (p.Asn280Tyr) c.1147A>T (p.Asn383Tyr) c.982A>T (p.Asn328Tyr) c.1231A>T (p.Asn411Tyr) c.1045A>T (p.Asn349Tyr) n.1162A>T | gnomAD v4 |
13 | g.113118752A>C | CA388786433 | F7 | c.1079A>C (p.Asn360Thr) c.1145A>C (p.Asn382Thr) c.893A>C (p.Asn298Thr) n.1166A>C c.938A>C (p.Asn313Thr) c.1187A>C (p.Asn396Thr) c.1001A>C (p.Asn334Thr) c.839A>C (p.Asn280Thr) c.1148A>C (p.Asn383Thr) c.983A>C (p.Asn328Thr) c.1232A>C (p.Asn411Thr) c.1046A>C (p.Asn349Thr) n.1163A>C | |
13 | g.113118752A>G | CA388786434 | F7 | c.1079A>G (p.Asn360Ser) c.1145A>G (p.Asn382Ser) c.893A>G (p.Asn298Ser) n.1166A>G c.938A>G (p.Asn313Ser) c.1187A>G (p.Asn396Ser) c.1001A>G (p.Asn334Ser) c.839A>G (p.Asn280Ser) c.1148A>G (p.Asn383Ser) c.983A>G (p.Asn328Ser) c.1232A>G (p.Asn411Ser) c.1046A>G (p.Asn349Ser) n.1163A>G | |
13 | g.113118752A>T | CA388786436 | F7 | c.1079A>T (p.Asn360Ile) c.1145A>T (p.Asn382Ile) c.893A>T (p.Asn298Ile) n.1166A>T c.938A>T (p.Asn313Ile) c.1187A>T (p.Asn396Ile) c.1001A>T (p.Asn334Ile) c.839A>T (p.Asn280Ile) c.1148A>T (p.Asn383Ile) c.983A>T (p.Asn328Ile) c.1232A>T (p.Asn411Ile) c.1046A>T (p.Asn349Ile) n.1163A>T | |
13 | g.113118753T>A | CA388786437 | F7 | c.1080T>A (p.Asn360Lys) c.1146T>A (p.Asn382Lys) c.894T>A (p.Asn298Lys) n.1167T>A c.939T>A (p.Asn313Lys) c.1188T>A (p.Asn396Lys) c.1002T>A (p.Asn334Lys) c.840T>A (p.Asn280Lys) c.1149T>A (p.Asn383Lys) c.984T>A (p.Asn328Lys) c.1233T>A (p.Asn411Lys) c.1047T>A (p.Asn349Lys) n.1164T>A | |
13 | g.113118753T>C | CA485424035 | F7 | c.1080T>C (p.Asn360=) c.1146T>C (p.Asn382=) c.894T>C (p.Asn298=) n.1167T>C c.939T>C (p.Asn313=) c.1188T>C (p.Asn396=) c.1002T>C (p.Asn334=) c.840T>C (p.Asn280=) c.1149T>C (p.Asn383=) c.984T>C (p.Asn328=) c.1233T>C (p.Asn411=) c.1047T>C (p.Asn349=) n.1164T>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118753T>G | CA388786439 | F7 | c.1080T>G (p.Asn360Lys) c.1146T>G (p.Asn382Lys) c.894T>G (p.Asn298Lys) n.1167T>G c.939T>G (p.Asn313Lys) c.1188T>G (p.Asn396Lys) c.1002T>G (p.Asn334Lys) c.840T>G (p.Asn280Lys) c.1149T>G (p.Asn383Lys) c.984T>G (p.Asn328Lys) c.1233T>G (p.Asn411Lys) c.1047T>G (p.Asn349Lys) n.1164T>G | |
13 | g.113118753T= | CA2120142604 | F7 | c.1080T= (p.Asn360=) c.1146T= (p.Asn382=) c.894T= (p.Asn298=) n.1167T= c.939T= (p.Asn313=) c.1188T= (p.Asn396=) c.1002T= (p.Asn334=) c.840T= (p.Asn280=) c.1149T= (p.Asn383=) c.984T= (p.Asn328=) c.1233T= (p.Asn411=) c.1047T= (p.Asn349=) n.1164T= | |
13 | g.113118754A>C | CA388786441 | F7 | c.1081A>C (p.Ile361Leu) c.1147A>C (p.Ile383Leu) c.895A>C (p.Ile299Leu) n.1168A>C c.940A>C (p.Ile314Leu) c.1189A>C (p.Ile397Leu) c.1003A>C (p.Ile335Leu) c.841A>C (p.Ile281Leu) c.1150A>C (p.Ile384Leu) c.985A>C (p.Ile329Leu) c.1234A>C (p.Ile412Leu) c.1048A>C (p.Ile350Leu) n.1165A>C | |
13 | g.113118754A>G | CA388786443 | F7 | c.1081A>G (p.Ile361Val) c.1147A>G (p.Ile383Val) c.895A>G (p.Ile299Val) n.1168A>G c.940A>G (p.Ile314Val) c.1189A>G (p.Ile397Val) c.1003A>G (p.Ile335Val) c.841A>G (p.Ile281Val) c.1150A>G (p.Ile384Val) c.985A>G (p.Ile329Val) c.1234A>G (p.Ile412Val) c.1048A>G (p.Ile350Val) n.1165A>G | |
13 | g.113118754A>T | CA388786445 | F7 | c.1081A>T (p.Ile361Phe) c.1147A>T (p.Ile383Phe) c.895A>T (p.Ile299Phe) n.1168A>T c.940A>T (p.Ile314Phe) c.1189A>T (p.Ile397Phe) c.1003A>T (p.Ile335Phe) c.841A>T (p.Ile281Phe) c.1150A>T (p.Ile384Phe) c.985A>T (p.Ile329Phe) c.1234A>T (p.Ile412Phe) c.1048A>T (p.Ile350Phe) n.1165A>T | |
13 | g.113118755T>A | CA388786450 | F7 | c.1082T>A (p.Ile361Asn) c.1148T>A (p.Ile383Asn) c.896T>A (p.Ile299Asn) n.1169T>A c.941T>A (p.Ile314Asn) c.1190T>A (p.Ile397Asn) c.1004T>A (p.Ile335Asn) c.842T>A (p.Ile281Asn) c.1151T>A (p.Ile384Asn) c.986T>A (p.Ile329Asn) c.1235T>A (p.Ile412Asn) c.1049T>A (p.Ile350Asn) n.1166T>A | |
13 | g.113118755T>C | CA388786447 | F7 | c.1082T>C (p.Ile361Thr) c.1148T>C (p.Ile383Thr) c.896T>C (p.Ile299Thr) n.1169T>C c.941T>C (p.Ile314Thr) c.1190T>C (p.Ile397Thr) c.1004T>C (p.Ile335Thr) c.842T>C (p.Ile281Thr) c.1151T>C (p.Ile384Thr) c.986T>C (p.Ile329Thr) c.1235T>C (p.Ile412Thr) c.1049T>C (p.Ile350Thr) n.1166T>C | |
13 | g.113118755T>G | CA388786448 | F7 | c.1082T>G (p.Ile361Ser) c.1148T>G (p.Ile383Ser) c.896T>G (p.Ile299Ser) n.1169T>G c.941T>G (p.Ile314Ser) c.1190T>G (p.Ile397Ser) c.1004T>G (p.Ile335Ser) c.842T>G (p.Ile281Ser) c.1151T>G (p.Ile384Ser) c.986T>G (p.Ile329Ser) c.1235T>G (p.Ile412Ser) c.1049T>G (p.Ile350Ser) n.1166T>G | |
13 | g.113118756C>A | CA485424037 | F7 | c.1083C>A (p.Ile361=) c.1149C>A (p.Ile383=) c.897C>A (p.Ile299=) n.1170C>A c.942C>A (p.Ile314=) c.1191C>A (p.Ile397=) c.1005C>A (p.Ile335=) c.843C>A (p.Ile281=) c.1152C>A (p.Ile384=) c.987C>A (p.Ile329=) c.1236C>A (p.Ile412=) c.1050C>A (p.Ile350=) n.1167C>A | |
13 | g.113118756C= | CA2120142609 | F7 | c.1083C= (p.Ile361=) c.1149C= (p.Ile383=) c.897C= (p.Ile299=) n.1170C= c.942C= (p.Ile314=) c.1191C= (p.Ile397=) c.1005C= (p.Ile335=) c.843C= (p.Ile281=) c.1152C= (p.Ile384=) c.987C= (p.Ile329=) c.1236C= (p.Ile412=) c.1050C= (p.Ile350=) n.1167C= | |
13 | g.113118756C>G | CA388786452 | F7 | c.1083C>G (p.Ile361Met) c.1149C>G (p.Ile383Met) c.897C>G (p.Ile299Met) n.1170C>G c.942C>G (p.Ile314Met) c.1191C>G (p.Ile397Met) c.1005C>G (p.Ile335Met) c.843C>G (p.Ile281Met) c.1152C>G (p.Ile384Met) c.987C>G (p.Ile329Met) c.1236C>G (p.Ile412Met) c.1050C>G (p.Ile350Met) n.1167C>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118756C>T | CA485424036 | F7 | c.1083C>T (p.Ile361=) c.1149C>T (p.Ile383=) c.897C>T (p.Ile299=) n.1170C>T c.942C>T (p.Ile314=) c.1191C>T (p.Ile397=) c.1005C>T (p.Ile335=) c.843C>T (p.Ile281=) c.1152C>T (p.Ile384=) c.987C>T (p.Ile329=) c.1236C>T (p.Ile412=) c.1050C>T (p.Ile350=) n.1167C>T | gnomAD v4 |
13 | g.113118757A>C | CA388786454 | F7 | c.1084A>C (p.Thr362Pro) c.1150A>C (p.Thr384Pro) c.898A>C (p.Thr300Pro) n.1171A>C c.943A>C (p.Thr315Pro) c.1192A>C (p.Thr398Pro) c.1006A>C (p.Thr336Pro) c.844A>C (p.Thr282Pro) c.1153A>C (p.Thr385Pro) c.988A>C (p.Thr330Pro) c.1237A>C (p.Thr413Pro) c.1051A>C (p.Thr351Pro) n.1168A>C | |
13 | g.113118757A>G | CA388786456 | F7 | c.1084A>G (p.Thr362Ala) c.1150A>G (p.Thr384Ala) c.898A>G (p.Thr300Ala) n.1171A>G c.943A>G (p.Thr315Ala) c.1192A>G (p.Thr398Ala) c.1006A>G (p.Thr336Ala) c.844A>G (p.Thr282Ala) c.1153A>G (p.Thr385Ala) c.988A>G (p.Thr330Ala) c.1237A>G (p.Thr413Ala) c.1051A>G (p.Thr351Ala) n.1168A>G | |
13 | g.113118757A>T | CA388786457 | F7 | c.1084A>T (p.Thr362Ser) c.1150A>T (p.Thr384Ser) c.898A>T (p.Thr300Ser) n.1171A>T c.943A>T (p.Thr315Ser) c.1192A>T (p.Thr398Ser) c.1006A>T (p.Thr336Ser) c.844A>T (p.Thr282Ser) c.1153A>T (p.Thr385Ser) c.988A>T (p.Thr330Ser) c.1237A>T (p.Thr413Ser) c.1051A>T (p.Thr351Ser) n.1168A>T | |
13 | g.113118758C>A | CA388786459 | F7 | c.1085C>A (p.Thr362Lys) c.1151C>A (p.Thr384Lys) c.899C>A (p.Thr300Lys) n.1172C>A c.944C>A (p.Thr315Lys) c.1193C>A (p.Thr398Lys) c.1007C>A (p.Thr336Lys) c.845C>A (p.Thr282Lys) c.1154C>A (p.Thr385Lys) c.989C>A (p.Thr330Lys) c.1238C>A (p.Thr413Lys) c.1052C>A (p.Thr351Lys) n.1169C>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118758C= | CA2120142616 | F7 | c.1085C= (p.Thr362=) c.1151C= (p.Thr384=) c.899C= (p.Thr300=) n.1172C= c.944C= (p.Thr315=) c.1193C= (p.Thr398=) c.1007C= (p.Thr336=) c.845C= (p.Thr282=) c.1154C= (p.Thr385=) c.989C= (p.Thr330=) c.1238C= (p.Thr413=) c.1052C= (p.Thr351=) n.1169C= | |
13 | g.113118758C>G | CA388786461 | F7 | c.1085C>G (p.Thr362Arg) c.1151C>G (p.Thr384Arg) c.899C>G (p.Thr300Arg) n.1172C>G c.944C>G (p.Thr315Arg) c.1193C>G (p.Thr398Arg) c.1007C>G (p.Thr336Arg) c.845C>G (p.Thr282Arg) c.1154C>G (p.Thr385Arg) c.989C>G (p.Thr330Arg) c.1238C>G (p.Thr413Arg) c.1052C>G (p.Thr351Arg) n.1169C>G | |
13 | g.113118758C>T | CA7060229 | F7 | c.1085C>T (p.Thr362Met) c.1151C>T (p.Thr384Met) c.899C>T (p.Thr300Met) n.1172C>T c.944C>T (p.Thr315Met) c.1193C>T (p.Thr398Met) c.1007C>T (p.Thr336Met) c.845C>T (p.Thr282Met) c.1154C>T (p.Thr385Met) c.989C>T (p.Thr330Met) c.1238C>T (p.Thr413Met) c.1052C>T (p.Thr351Met) n.1169C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118759G>A | CA7060230 | F7 | c.1086G>A (p.Thr362=) c.1152G>A (p.Thr384=) c.900G>A (p.Thr300=) n.1173G>A c.945G>A (p.Thr315=) c.1194G>A (p.Thr398=) c.1008G>A (p.Thr336=) c.846G>A (p.Thr282=) c.1155G>A (p.Thr385=) c.990G>A (p.Thr330=) c.1239G>A (p.Thr413=) c.1053G>A (p.Thr351=) n.1170G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118759G>C | CA485424038 | F7 | c.1086G>C (p.Thr362=) c.1152G>C (p.Thr384=) c.900G>C (p.Thr300=) n.1173G>C c.945G>C (p.Thr315=) c.1194G>C (p.Thr398=) c.1008G>C (p.Thr336=) c.846G>C (p.Thr282=) c.1155G>C (p.Thr385=) c.990G>C (p.Thr330=) c.1239G>C (p.Thr413=) c.1053G>C (p.Thr351=) n.1170G>C | |
13 | g.113118759G= | CA2120142626 | F7 | c.1086G= (p.Thr362=) c.1152G= (p.Thr384=) c.900G= (p.Thr300=) n.1173G= c.945G= (p.Thr315=) c.1194G= (p.Thr398=) c.1008G= (p.Thr336=) c.846G= (p.Thr282=) c.1155G= (p.Thr385=) c.990G= (p.Thr330=) c.1239G= (p.Thr413=) c.1053G= (p.Thr351=) n.1170G= | |
13 | g.113118759G>T | CA485424039 | F7 | c.1086G>T (p.Thr362=) c.1152G>T (p.Thr384=) c.900G>T (p.Thr300=) n.1173G>T c.945G>T (p.Thr315=) c.1194G>T (p.Thr398=) c.1008G>T (p.Thr336=) c.846G>T (p.Thr282=) c.1155G>T (p.Thr385=) c.990G>T (p.Thr330=) c.1239G>T (p.Thr413=) c.1053G>T (p.Thr351=) n.1170G>T | |
13 | g.113118760G>A | CA388786464 | F7 | c.1087G>A (p.Glu363Lys) c.1153G>A (p.Glu385Lys) c.901G>A (p.Glu301Lys) n.1174G>A c.946G>A (p.Glu316Lys) c.1195G>A (p.Glu399Lys) c.1009G>A (p.Glu337Lys) c.847G>A (p.Glu283Lys) c.1156G>A (p.Glu386Lys) c.991G>A (p.Glu331Lys) c.1240G>A (p.Glu414Lys) c.1054G>A (p.Glu352Lys) n.1171G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118760G>C | CA388786466 | F7 | c.1087G>C (p.Glu363Gln) c.1153G>C (p.Glu385Gln) c.901G>C (p.Glu301Gln) n.1174G>C c.946G>C (p.Glu316Gln) c.1195G>C (p.Glu399Gln) c.1009G>C (p.Glu337Gln) c.847G>C (p.Glu283Gln) c.1156G>C (p.Glu386Gln) c.991G>C (p.Glu331Gln) c.1240G>C (p.Glu414Gln) c.1054G>C (p.Glu352Gln) n.1171G>C | |
13 | g.113118760G= | CA2120142629 | F7 | c.1087G= (p.Glu363=) c.1153G= (p.Glu385=) c.901G= (p.Glu301=) n.1174G= c.946G= (p.Glu316=) c.1195G= (p.Glu399=) c.1009G= (p.Glu337=) c.847G= (p.Glu283=) c.1156G= (p.Glu386=) c.991G= (p.Glu331=) c.1240G= (p.Glu414=) c.1054G= (p.Glu352=) n.1171G= | |
13 | g.113118760G>T | CA388786469 | F7 | c.1087G>T (p.Glu363Ter) c.1153G>T (p.Glu385Ter) c.901G>T (p.Glu301Ter) n.1174G>T c.946G>T (p.Glu316Ter) c.1195G>T (p.Glu399Ter) c.1009G>T (p.Glu337Ter) c.847G>T (p.Glu283Ter) c.1156G>T (p.Glu386Ter) c.991G>T (p.Glu331Ter) c.1240G>T (p.Glu414Ter) c.1054G>T (p.Glu352Ter) n.1171G>T | |
13 | g.113118761A>C | CA388786473 | F7 | c.1088A>C (p.Glu363Ala) c.1154A>C (p.Glu385Ala) c.902A>C (p.Glu301Ala) n.1175A>C c.947A>C (p.Glu316Ala) c.1196A>C (p.Glu399Ala) c.1010A>C (p.Glu337Ala) c.848A>C (p.Glu283Ala) c.1157A>C (p.Glu386Ala) c.992A>C (p.Glu331Ala) c.1241A>C (p.Glu414Ala) c.1055A>C (p.Glu352Ala) n.1172A>C | |
13 | g.113118761A>G | CA388786475 | F7 | c.1088A>G (p.Glu363Gly) c.1154A>G (p.Glu385Gly) c.902A>G (p.Glu301Gly) n.1175A>G c.947A>G (p.Glu316Gly) c.1196A>G (p.Glu399Gly) c.1010A>G (p.Glu337Gly) c.848A>G (p.Glu283Gly) c.1157A>G (p.Glu386Gly) c.992A>G (p.Glu331Gly) c.1241A>G (p.Glu414Gly) c.1055A>G (p.Glu352Gly) n.1172A>G | |
13 | g.113118761A>T | CA388786471 | F7 | c.1088A>T (p.Glu363Val) c.1154A>T (p.Glu385Val) c.902A>T (p.Glu301Val) n.1175A>T c.947A>T (p.Glu316Val) c.1196A>T (p.Glu399Val) c.1010A>T (p.Glu337Val) c.848A>T (p.Glu283Val) c.1157A>T (p.Glu386Val) c.992A>T (p.Glu331Val) c.1241A>T (p.Glu414Val) c.1055A>T (p.Glu352Val) n.1172A>T | |
13 | g.113118762G>A | CA256461783 | F7 | c.1089G>A (p.Glu363=) c.1155G>A (p.Glu385=) c.903G>A (p.Glu301=) n.1176G>A c.948G>A (p.Glu316=) c.1197G>A (p.Glu399=) c.1011G>A (p.Glu337=) c.849G>A (p.Glu283=) c.1158G>A (p.Glu386=) c.993G>A (p.Glu331=) c.1242G>A (p.Glu414=) c.1056G>A (p.Glu352=) n.1173G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118762G>C | CA7060231 | F7 | c.1089G>C (p.Glu363Asp) c.1155G>C (p.Glu385Asp) c.903G>C (p.Glu301Asp) n.1176G>C c.948G>C (p.Glu316Asp) c.1197G>C (p.Glu399Asp) c.1011G>C (p.Glu337Asp) c.849G>C (p.Glu283Asp) c.1158G>C (p.Glu386Asp) c.993G>C (p.Glu331Asp) c.1242G>C (p.Glu414Asp) c.1056G>C (p.Glu352Asp) n.1173G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118762G= | CA2120142633 | F7 | c.1089G= (p.Glu363=) c.1155G= (p.Glu385=) c.903G= (p.Glu301=) n.1176G= c.948G= (p.Glu316=) c.1197G= (p.Glu399=) c.1011G= (p.Glu337=) c.849G= (p.Glu283=) c.1158G= (p.Glu386=) c.993G= (p.Glu331=) c.1242G= (p.Glu414=) c.1056G= (p.Glu352=) n.1173G= | |
13 | g.113118762G>T | CA388786479 | F7 | c.1089G>T (p.Glu363Asp) c.1155G>T (p.Glu385Asp) c.903G>T (p.Glu301Asp) n.1176G>T c.948G>T (p.Glu316Asp) c.1197G>T (p.Glu399Asp) c.1011G>T (p.Glu337Asp) c.849G>T (p.Glu283Asp) c.1158G>T (p.Glu386Asp) c.993G>T (p.Glu331Asp) c.1242G>T (p.Glu414Asp) c.1056G>T (p.Glu352Asp) n.1173G>T | |
13 | g.113118763T>A | CA388786482 | F7 | c.1090T>A (p.Tyr364Asn) c.1156T>A (p.Tyr386Asn) c.904T>A (p.Tyr302Asn) n.1177T>A c.949T>A (p.Tyr317Asn) c.1198T>A (p.Tyr400Asn) c.1012T>A (p.Tyr338Asn) c.850T>A (p.Tyr284Asn) c.1159T>A (p.Tyr387Asn) c.994T>A (p.Tyr332Asn) c.1243T>A (p.Tyr415Asn) c.1057T>A (p.Tyr353Asn) n.1174T>A | |
13 | g.113118763T>C | CA388786483 | F7 | c.1090T>C (p.Tyr364His) c.1156T>C (p.Tyr386His) c.904T>C (p.Tyr302His) n.1177T>C c.949T>C (p.Tyr317His) c.1198T>C (p.Tyr400His) c.1012T>C (p.Tyr338His) c.850T>C (p.Tyr284His) c.1159T>C (p.Tyr387His) c.994T>C (p.Tyr332His) c.1243T>C (p.Tyr415His) c.1057T>C (p.Tyr353His) n.1174T>C | |
13 | g.113118763T>G | CA388786485 | F7 | c.1090T>G (p.Tyr364Asp) c.1156T>G (p.Tyr386Asp) c.904T>G (p.Tyr302Asp) n.1177T>G c.949T>G (p.Tyr317Asp) c.1198T>G (p.Tyr400Asp) c.1012T>G (p.Tyr338Asp) c.850T>G (p.Tyr284Asp) c.1159T>G (p.Tyr387Asp) c.994T>G (p.Tyr332Asp) c.1243T>G (p.Tyr415Asp) c.1057T>G (p.Tyr353Asp) n.1174T>G | |
13 | g.113118766_113118783del | CA2695218991 | F7 | c.1093_1110del (p.Met365_Tyr370del) c.1159_1176del (p.Met387_Tyr392del) c.907_924del (p.Met303_Tyr308del) n.1180_1197del c.952_969del (p.Met318_Tyr323del) c.1201_1218del (p.Met401_Tyr406del) c.1015_1032del (p.Met339_Tyr344del) c.853_870del (p.Met285_Tyr290del) c.1162_1179del (p.Met388_Tyr393del) c.997_1014del (p.Met333_Tyr338del) c.1246_1263del (p.Met416_Tyr421del) c.1060_1077del (p.Met354_Tyr359del) n.1177_1194del | |
13 | g.113118764A>C | CA388786487 | F7 | c.1091A>C (p.Tyr364Ser) c.1157A>C (p.Tyr386Ser) c.905A>C (p.Tyr302Ser) n.1178A>C c.950A>C (p.Tyr317Ser) c.1199A>C (p.Tyr400Ser) c.1013A>C (p.Tyr338Ser) c.851A>C (p.Tyr284Ser) c.1160A>C (p.Tyr387Ser) c.995A>C (p.Tyr332Ser) c.1244A>C (p.Tyr415Ser) c.1058A>C (p.Tyr353Ser) n.1175A>C | |
13 | g.113118764A>G | CA388786490 | F7 | c.1091A>G (p.Tyr364Cys) c.1157A>G (p.Tyr386Cys) c.905A>G (p.Tyr302Cys) n.1178A>G c.950A>G (p.Tyr317Cys) c.1199A>G (p.Tyr400Cys) c.1013A>G (p.Tyr338Cys) c.851A>G (p.Tyr284Cys) c.1160A>G (p.Tyr387Cys) c.995A>G (p.Tyr332Cys) c.1244A>G (p.Tyr415Cys) c.1058A>G (p.Tyr353Cys) n.1175A>G | gnomAD v4 |
13 | g.113118764A>T | CA388786491 | F7 | c.1091A>T (p.Tyr364Phe) c.1157A>T (p.Tyr386Phe) c.905A>T (p.Tyr302Phe) n.1178A>T c.950A>T (p.Tyr317Phe) c.1199A>T (p.Tyr400Phe) c.1013A>T (p.Tyr338Phe) c.851A>T (p.Tyr284Phe) c.1160A>T (p.Tyr387Phe) c.995A>T (p.Tyr332Phe) c.1244A>T (p.Tyr415Phe) c.1058A>T (p.Tyr353Phe) n.1175A>T | |
13 | g.113118765C>A | CA388786493 | F7 | c.1092C>A (p.Tyr364Ter) c.1158C>A (p.Tyr386Ter) c.906C>A (p.Tyr302Ter) n.1179C>A c.951C>A (p.Tyr317Ter) c.1200C>A (p.Tyr400Ter) c.1014C>A (p.Tyr338Ter) c.852C>A (p.Tyr284Ter) c.1161C>A (p.Tyr387Ter) c.996C>A (p.Tyr332Ter) c.1245C>A (p.Tyr415Ter) c.1059C>A (p.Tyr353Ter) n.1176C>A | |
13 | g.113118765C= | CA2120142639 | F7 | c.1092C= (p.Tyr364=) c.1158C= (p.Tyr386=) c.906C= (p.Tyr302=) n.1179C= c.951C= (p.Tyr317=) c.1200C= (p.Tyr400=) c.1014C= (p.Tyr338=) c.852C= (p.Tyr284=) c.1161C= (p.Tyr387=) c.996C= (p.Tyr332=) c.1245C= (p.Tyr415=) c.1059C= (p.Tyr353=) n.1176C= | |
13 | g.113118765C>G | CA388786495 | F7 | c.1092C>G (p.Tyr364Ter) c.1158C>G (p.Tyr386Ter) c.906C>G (p.Tyr302Ter) n.1179C>G c.951C>G (p.Tyr317Ter) c.1200C>G (p.Tyr400Ter) c.1014C>G (p.Tyr338Ter) c.852C>G (p.Tyr284Ter) c.1161C>G (p.Tyr387Ter) c.996C>G (p.Tyr332Ter) c.1245C>G (p.Tyr415Ter) c.1059C>G (p.Tyr353Ter) n.1176C>G | |
13 | g.113118765C>T | CA7060232 | F7 | c.1092C>T (p.Tyr364=) c.1158C>T (p.Tyr386=) c.906C>T (p.Tyr302=) n.1179C>T c.951C>T (p.Tyr317=) c.1200C>T (p.Tyr400=) c.1014C>T (p.Tyr338=) c.852C>T (p.Tyr284=) c.1161C>T (p.Tyr387=) c.996C>T (p.Tyr332=) c.1245C>T (p.Tyr415=) c.1059C>T (p.Tyr353=) n.1176C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118766A= | CA2120142643 | F7 | c.1093A= (p.Met365=) c.1159A= (p.Met387=) c.907A= (p.Met303=) n.1180A= c.952A= (p.Met318=) c.1201A= (p.Met401=) c.1015A= (p.Met339=) c.853A= (p.Met285=) c.1162A= (p.Met388=) c.997A= (p.Met333=) c.1246A= (p.Met416=) c.1060A= (p.Met354=) n.1177A= | |
13 | g.113118766A>C | CA388786500 | F7 | c.1093A>C (p.Met365Leu) c.1159A>C (p.Met387Leu) c.907A>C (p.Met303Leu) n.1180A>C c.952A>C (p.Met318Leu) c.1201A>C (p.Met401Leu) c.1015A>C (p.Met339Leu) c.853A>C (p.Met285Leu) c.1162A>C (p.Met388Leu) c.997A>C (p.Met333Leu) c.1246A>C (p.Met416Leu) c.1060A>C (p.Met354Leu) n.1177A>C | |
13 | g.113118766A>G | CA388786501 | F7 | c.1093A>G (p.Met365Val) c.1159A>G (p.Met387Val) c.907A>G (p.Met303Val) n.1180A>G c.952A>G (p.Met318Val) c.1201A>G (p.Met401Val) c.1015A>G (p.Met339Val) c.853A>G (p.Met285Val) c.1162A>G (p.Met388Val) c.997A>G (p.Met333Val) c.1246A>G (p.Met416Val) c.1060A>G (p.Met354Val) n.1177A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118766A>T | CA388786498 | F7 | c.1093A>T (p.Met365Leu) c.1159A>T (p.Met387Leu) c.907A>T (p.Met303Leu) n.1180A>T c.952A>T (p.Met318Leu) c.1201A>T (p.Met401Leu) c.1015A>T (p.Met339Leu) c.853A>T (p.Met285Leu) c.1162A>T (p.Met388Leu) c.997A>T (p.Met333Leu) c.1246A>T (p.Met416Leu) c.1060A>T (p.Met354Leu) n.1177A>T | |
13 | g.113118767T>A | CA388786503 | F7 | c.1094T>A (p.Met365Lys) c.1160T>A (p.Met387Lys) c.908T>A (p.Met303Lys) n.1181T>A c.953T>A (p.Met318Lys) c.1202T>A (p.Met401Lys) c.1016T>A (p.Met339Lys) c.854T>A (p.Met285Lys) c.1163T>A (p.Met388Lys) c.998T>A (p.Met333Lys) c.1247T>A (p.Met416Lys) c.1061T>A (p.Met354Lys) n.1178T>A | |
13 | g.113118767T>C | CA388786505 | F7 | c.1094T>C (p.Met365Thr) c.1160T>C (p.Met387Thr) c.908T>C (p.Met303Thr) n.1181T>C c.953T>C (p.Met318Thr) c.1202T>C (p.Met401Thr) c.1016T>C (p.Met339Thr) c.854T>C (p.Met285Thr) c.1163T>C (p.Met388Thr) c.998T>C (p.Met333Thr) c.1247T>C (p.Met416Thr) c.1061T>C (p.Met354Thr) n.1178T>C | ClinVar dbSNP |
13 | g.113118767T>G | CA388786507 | F7 | c.1094T>G (p.Met365Arg) c.1160T>G (p.Met387Arg) c.908T>G (p.Met303Arg) n.1181T>G c.953T>G (p.Met318Arg) c.1202T>G (p.Met401Arg) c.1016T>G (p.Met339Arg) c.854T>G (p.Met285Arg) c.1163T>G (p.Met388Arg) c.998T>G (p.Met333Arg) c.1247T>G (p.Met416Arg) c.1061T>G (p.Met354Arg) n.1178T>G | |
13 | g.113118767T= | CA2120142649 | F7 | c.1094T= (p.Met365=) c.1160T= (p.Met387=) c.908T= (p.Met303=) n.1181T= c.953T= (p.Met318=) c.1202T= (p.Met401=) c.1016T= (p.Met339=) c.854T= (p.Met285=) c.1163T= (p.Met388=) c.998T= (p.Met333=) c.1247T= (p.Met416=) c.1061T= (p.Met354=) n.1178T= | |
13 | g.113118768G>A | CA388786509 | F7 | c.1095G>A (p.Met365Ile) c.1161G>A (p.Met387Ile) c.909G>A (p.Met303Ile) n.1182G>A c.954G>A (p.Met318Ile) c.1203G>A (p.Met401Ile) c.1017G>A (p.Met339Ile) c.855G>A (p.Met285Ile) c.1164G>A (p.Met388Ile) c.999G>A (p.Met333Ile) c.1248G>A (p.Met416Ile) c.1062G>A (p.Met354Ile) n.1179G>A | |
13 | g.113118768G>C | CA388786511 | F7 | c.1095G>C (p.Met365Ile) c.1161G>C (p.Met387Ile) c.909G>C (p.Met303Ile) n.1182G>C c.954G>C (p.Met318Ile) c.1203G>C (p.Met401Ile) c.1017G>C (p.Met339Ile) c.855G>C (p.Met285Ile) c.1164G>C (p.Met388Ile) c.999G>C (p.Met333Ile) c.1248G>C (p.Met416Ile) c.1062G>C (p.Met354Ile) n.1179G>C | |
13 | g.113118768G= | CA2120142655 | F7 | c.1095G= (p.Met365=) c.1161G= (p.Met387=) c.909G= (p.Met303=) n.1182G= c.954G= (p.Met318=) c.1203G= (p.Met401=) c.1017G= (p.Met339=) c.855G= (p.Met285=) c.1164G= (p.Met388=) c.999G= (p.Met333=) c.1248G= (p.Met416=) c.1062G= (p.Met354=) n.1179G= | |
13 | g.113118768G>T | CA388786512 | F7 | c.1095G>T (p.Met365Ile) c.1161G>T (p.Met387Ile) c.909G>T (p.Met303Ile) n.1182G>T c.954G>T (p.Met318Ile) c.1203G>T (p.Met401Ile) c.1017G>T (p.Met339Ile) c.855G>T (p.Met285Ile) c.1164G>T (p.Met388Ile) c.999G>T (p.Met333Ile) c.1248G>T (p.Met416Ile) c.1062G>T (p.Met354Ile) n.1179G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118769T>A | CA388786515 | F7 | c.1096T>A (p.Phe366Ile) c.1162T>A (p.Phe388Ile) c.910T>A (p.Phe304Ile) n.1183T>A c.955T>A (p.Phe319Ile) c.1204T>A (p.Phe402Ile) c.1018T>A (p.Phe340Ile) c.856T>A (p.Phe286Ile) c.1165T>A (p.Phe389Ile) c.1000T>A (p.Phe334Ile) c.1249T>A (p.Phe417Ile) c.1063T>A (p.Phe355Ile) n.1180T>A | gnomAD v4 |
13 | g.113118769T>C | CA388786519 | F7 | c.1096T>C (p.Phe366Leu) c.1162T>C (p.Phe388Leu) c.910T>C (p.Phe304Leu) n.1183T>C c.955T>C (p.Phe319Leu) c.1204T>C (p.Phe402Leu) c.1018T>C (p.Phe340Leu) c.856T>C (p.Phe286Leu) c.1165T>C (p.Phe389Leu) c.1000T>C (p.Phe334Leu) c.1249T>C (p.Phe417Leu) c.1063T>C (p.Phe355Leu) n.1180T>C | |
13 | g.113118769T>G | CA388786517 | F7 | c.1096T>G (p.Phe366Val) c.1162T>G (p.Phe388Val) c.910T>G (p.Phe304Val) n.1183T>G c.955T>G (p.Phe319Val) c.1204T>G (p.Phe402Val) c.1018T>G (p.Phe340Val) c.856T>G (p.Phe286Val) c.1165T>G (p.Phe389Val) c.1000T>G (p.Phe334Val) c.1249T>G (p.Phe417Val) c.1063T>G (p.Phe355Val) n.1180T>G | |
13 | g.113118770T>A | CA388786521 | F7 | c.1097T>A (p.Phe366Tyr) c.1163T>A (p.Phe388Tyr) c.911T>A (p.Phe304Tyr) n.1184T>A c.956T>A (p.Phe319Tyr) c.1205T>A (p.Phe402Tyr) c.1019T>A (p.Phe340Tyr) c.857T>A (p.Phe286Tyr) c.1166T>A (p.Phe389Tyr) c.1001T>A (p.Phe334Tyr) c.1250T>A (p.Phe417Tyr) c.1064T>A (p.Phe355Tyr) n.1181T>A | |
13 | g.113118770T>C | CA7060233 | F7 | c.1097T>C (p.Phe366Ser) c.1163T>C (p.Phe388Ser) c.911T>C (p.Phe304Ser) n.1184T>C c.956T>C (p.Phe319Ser) c.1205T>C (p.Phe402Ser) c.1019T>C (p.Phe340Ser) c.857T>C (p.Phe286Ser) c.1166T>C (p.Phe389Ser) c.1001T>C (p.Phe334Ser) c.1250T>C (p.Phe417Ser) c.1064T>C (p.Phe355Ser) n.1181T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118770T>G | CA256461792 | F7 | c.1097T>G (p.Phe366Cys) c.1163T>G (p.Phe388Cys) c.911T>G (p.Phe304Cys) n.1184T>G c.956T>G (p.Phe319Cys) c.1205T>G (p.Phe402Cys) c.1019T>G (p.Phe340Cys) c.857T>G (p.Phe286Cys) c.1166T>G (p.Phe389Cys) c.1001T>G (p.Phe334Cys) c.1250T>G (p.Phe417Cys) c.1064T>G (p.Phe355Cys) n.1181T>G | dbSNP |
13 | g.113118770T= | CA2120142657 | F7 | c.1097T= (p.Phe366=) c.1163T= (p.Phe388=) c.911T= (p.Phe304=) n.1184T= c.956T= (p.Phe319=) c.1205T= (p.Phe402=) c.1019T= (p.Phe340=) c.857T= (p.Phe286=) c.1166T= (p.Phe389=) c.1001T= (p.Phe334=) c.1250T= (p.Phe417=) c.1064T= (p.Phe355=) n.1181T= | |
13 | g.113118771C>A | CA388786525 | F7 | c.1098C>A (p.Phe366Leu) c.1164C>A (p.Phe388Leu) c.912C>A (p.Phe304Leu) n.1185C>A c.957C>A (p.Phe319Leu) c.1206C>A (p.Phe402Leu) c.1020C>A (p.Phe340Leu) c.858C>A (p.Phe286Leu) c.1167C>A (p.Phe389Leu) c.1002C>A (p.Phe334Leu) c.1251C>A (p.Phe417Leu) c.1065C>A (p.Phe355Leu) n.1182C>A | |
13 | g.113118771C>G | CA388786526 | F7 | c.1098C>G (p.Phe366Leu) c.1164C>G (p.Phe388Leu) c.912C>G (p.Phe304Leu) n.1185C>G c.957C>G (p.Phe319Leu) c.1206C>G (p.Phe402Leu) c.1020C>G (p.Phe340Leu) c.858C>G (p.Phe286Leu) c.1167C>G (p.Phe389Leu) c.1002C>G (p.Phe334Leu) c.1251C>G (p.Phe417Leu) c.1065C>G (p.Phe355Leu) n.1182C>G | |
13 | g.113118771C>T | CA485424040 | F7 | c.1098C>T (p.Phe366=) c.1164C>T (p.Phe388=) c.912C>T (p.Phe304=) n.1185C>T c.957C>T (p.Phe319=) c.1206C>T (p.Phe402=) c.1020C>T (p.Phe340=) c.858C>T (p.Phe286=) c.1167C>T (p.Phe389=) c.1002C>T (p.Phe334=) c.1251C>T (p.Phe417=) c.1065C>T (p.Phe355=) n.1182C>T | |
13 | g.113118772T>A | CA388786529 | F7 | c.1099T>A (p.Cys367Ser) c.1165T>A (p.Cys389Ser) c.913T>A (p.Cys305Ser) n.1186T>A c.958T>A (p.Cys320Ser) c.1207T>A (p.Cys403Ser) c.1021T>A (p.Cys341Ser) c.859T>A (p.Cys287Ser) c.1168T>A (p.Cys390Ser) c.1003T>A (p.Cys335Ser) c.1252T>A (p.Cys418Ser) c.1066T>A (p.Cys356Ser) n.1183T>A | |
13 | g.113118772T>C | CA7060234 | F7 | c.1099T>C (p.Cys367Arg) c.1165T>C (p.Cys389Arg) c.913T>C (p.Cys305Arg) n.1186T>C c.958T>C (p.Cys320Arg) c.1207T>C (p.Cys403Arg) c.1021T>C (p.Cys341Arg) c.859T>C (p.Cys287Arg) c.1168T>C (p.Cys390Arg) c.1003T>C (p.Cys335Arg) c.1252T>C (p.Cys418Arg) c.1066T>C (p.Cys356Arg) n.1183T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118772T>G | CA121860 | F7 | c.1099T>G (p.Cys367Gly) c.1165T>G (p.Cys389Gly) c.913T>G (p.Cys305Gly) n.1186T>G c.958T>G (p.Cys320Gly) c.1207T>G (p.Cys403Gly) c.1021T>G (p.Cys341Gly) c.859T>G (p.Cys287Gly) c.1168T>G (p.Cys390Gly) c.1003T>G (p.Cys335Gly) c.1252T>G (p.Cys418Gly) c.1066T>G (p.Cys356Gly) n.1183T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118772T= | CA2120142664 | F7 | c.1099T= (p.Cys367=) c.1165T= (p.Cys389=) c.913T= (p.Cys305=) n.1186T= c.958T= (p.Cys320=) c.1207T= (p.Cys403=) c.1021T= (p.Cys341=) c.859T= (p.Cys287=) c.1168T= (p.Cys390=) c.1003T= (p.Cys335=) c.1252T= (p.Cys418=) c.1066T= (p.Cys356=) n.1183T= | |
13 | g.113118773G>A | CA388786534 | F7 | c.1100G>A (p.Cys367Tyr) c.1166G>A (p.Cys389Tyr) c.914G>A (p.Cys305Tyr) n.1187G>A c.959G>A (p.Cys320Tyr) c.1208G>A (p.Cys403Tyr) c.1022G>A (p.Cys341Tyr) c.860G>A (p.Cys287Tyr) c.1169G>A (p.Cys390Tyr) c.1004G>A (p.Cys335Tyr) c.1253G>A (p.Cys418Tyr) c.1067G>A (p.Cys356Tyr) n.1184G>A | gnomAD v4 |
13 | g.113118773G>C | CA388786532 | F7 | c.1100G>C (p.Cys367Ser) c.1166G>C (p.Cys389Ser) c.914G>C (p.Cys305Ser) n.1187G>C c.959G>C (p.Cys320Ser) c.1208G>C (p.Cys403Ser) c.1022G>C (p.Cys341Ser) c.860G>C (p.Cys287Ser) c.1169G>C (p.Cys390Ser) c.1004G>C (p.Cys335Ser) c.1253G>C (p.Cys418Ser) c.1067G>C (p.Cys356Ser) n.1184G>C | gnomAD v4 |
13 | g.113118773G>T | CA388786536 | F7 | c.1100G>T (p.Cys367Phe) c.1166G>T (p.Cys389Phe) c.914G>T (p.Cys305Phe) n.1187G>T c.959G>T (p.Cys320Phe) c.1208G>T (p.Cys403Phe) c.1022G>T (p.Cys341Phe) c.860G>T (p.Cys287Phe) c.1169G>T (p.Cys390Phe) c.1004G>T (p.Cys335Phe) c.1253G>T (p.Cys418Phe) c.1067G>T (p.Cys356Phe) n.1184G>T | gnomAD v4 |
13 | g.113118774T>A | CA388786538 | F7 | c.1101T>A (p.Cys367Ter) c.1167T>A (p.Cys389Ter) c.915T>A (p.Cys305Ter) n.1188T>A c.960T>A (p.Cys320Ter) c.1209T>A (p.Cys403Ter) c.1023T>A (p.Cys341Ter) c.861T>A (p.Cys287Ter) c.1170T>A (p.Cys390Ter) c.1005T>A (p.Cys335Ter) c.1254T>A (p.Cys418Ter) c.1068T>A (p.Cys356Ter) n.1185T>A | |
13 | g.113118774T>C | CA485424041 | F7 | c.1101T>C (p.Cys367=) c.1167T>C (p.Cys389=) c.915T>C (p.Cys305=) n.1188T>C c.960T>C (p.Cys320=) c.1209T>C (p.Cys403=) c.1023T>C (p.Cys341=) c.861T>C (p.Cys287=) c.1170T>C (p.Cys390=) c.1005T>C (p.Cys335=) c.1254T>C (p.Cys418=) c.1068T>C (p.Cys356=) n.1185T>C | gnomAD v4 |
13 | g.113118774T>G | CA388786539 | F7 | c.1101T>G (p.Cys367Trp) c.1167T>G (p.Cys389Trp) c.915T>G (p.Cys305Trp) n.1188T>G c.960T>G (p.Cys320Trp) c.1209T>G (p.Cys403Trp) c.1023T>G (p.Cys341Trp) c.861T>G (p.Cys287Trp) c.1170T>G (p.Cys390Trp) c.1005T>G (p.Cys335Trp) c.1254T>G (p.Cys418Trp) c.1068T>G (p.Cys356Trp) n.1185T>G | |
13 | g.113118775G>A | CA388786542 | F7 | c.1102G>A (p.Ala368Thr) c.1168G>A (p.Ala390Thr) c.916G>A (p.Ala306Thr) n.1189G>A c.961G>A (p.Ala321Thr) c.1210G>A (p.Ala404Thr) c.1024G>A (p.Ala342Thr) c.862G>A (p.Ala288Thr) c.1171G>A (p.Ala391Thr) c.1006G>A (p.Ala336Thr) c.1255G>A (p.Ala419Thr) c.1069G>A (p.Ala357Thr) n.1186G>A | COSMIC |
13 | g.113118775G>C | CA388786543 | F7 | c.1102G>C (p.Ala368Pro) c.1168G>C (p.Ala390Pro) c.916G>C (p.Ala306Pro) n.1189G>C c.961G>C (p.Ala321Pro) c.1210G>C (p.Ala404Pro) c.1024G>C (p.Ala342Pro) c.862G>C (p.Ala288Pro) c.1171G>C (p.Ala391Pro) c.1006G>C (p.Ala336Pro) c.1255G>C (p.Ala419Pro) c.1069G>C (p.Ala357Pro) n.1186G>C | |
13 | g.113118775G>T | CA388786545 | F7 | c.1102G>T (p.Ala368Ser) c.1168G>T (p.Ala390Ser) c.916G>T (p.Ala306Ser) n.1189G>T c.961G>T (p.Ala321Ser) c.1210G>T (p.Ala404Ser) c.1024G>T (p.Ala342Ser) c.862G>T (p.Ala288Ser) c.1171G>T (p.Ala391Ser) c.1006G>T (p.Ala336Ser) c.1255G>T (p.Ala419Ser) c.1069G>T (p.Ala357Ser) n.1186G>T | |
13 | g.113118776C>A | CA388786547 | F7 | c.1103C>A (p.Ala368Asp) c.1169C>A (p.Ala390Asp) c.917C>A (p.Ala306Asp) n.1190C>A c.962C>A (p.Ala321Asp) c.1211C>A (p.Ala404Asp) c.1025C>A (p.Ala342Asp) c.863C>A (p.Ala288Asp) c.1172C>A (p.Ala391Asp) c.1007C>A (p.Ala336Asp) c.1256C>A (p.Ala419Asp) c.1070C>A (p.Ala357Asp) n.1187C>A | |
13 | g.113118776C>G | CA388786549 | F7 | c.1103C>G (p.Ala368Gly) c.1169C>G (p.Ala390Gly) c.917C>G (p.Ala306Gly) n.1190C>G c.962C>G (p.Ala321Gly) c.1211C>G (p.Ala404Gly) c.1025C>G (p.Ala342Gly) c.863C>G (p.Ala288Gly) c.1172C>G (p.Ala391Gly) c.1007C>G (p.Ala336Gly) c.1256C>G (p.Ala419Gly) c.1070C>G (p.Ala357Gly) n.1187C>G | |
13 | g.113118776C>T | CA388786550 | F7 | c.1103C>T (p.Ala368Val) c.1169C>T (p.Ala390Val) c.917C>T (p.Ala306Val) n.1190C>T c.962C>T (p.Ala321Val) c.1211C>T (p.Ala404Val) c.1025C>T (p.Ala342Val) c.863C>T (p.Ala288Val) c.1172C>T (p.Ala391Val) c.1007C>T (p.Ala336Val) c.1256C>T (p.Ala419Val) c.1070C>T (p.Ala357Val) n.1187C>T | |
13 | g.113118777C>A | CA485424042 | F7 | c.1104C>A (p.Ala368=) c.1170C>A (p.Ala390=) c.918C>A (p.Ala306=) n.1191C>A c.963C>A (p.Ala321=) c.1212C>A (p.Ala404=) c.1026C>A (p.Ala342=) c.864C>A (p.Ala288=) c.1173C>A (p.Ala391=) c.1008C>A (p.Ala336=) c.1257C>A (p.Ala419=) c.1071C>A (p.Ala357=) n.1188C>A | |
13 | g.113118777C= | CA2018007885 | F7 | c.1104C= (p.Ala368=) c.1170C= (p.Ala390=) c.918C= (p.Ala306=) n.1191C= c.963C= (p.Ala321=) c.1212C= (p.Ala404=) c.1026C= (p.Ala342=) c.864C= (p.Ala288=) c.1173C= (p.Ala391=) c.1008C= (p.Ala336=) c.1257C= (p.Ala419=) c.1071C= (p.Ala357=) n.1188C= | |
13 | g.113118777C>G | CA485424043 | F7 | c.1104C>G (p.Ala368=) c.1170C>G (p.Ala390=) c.918C>G (p.Ala306=) n.1191C>G c.963C>G (p.Ala321=) c.1212C>G (p.Ala404=) c.1026C>G (p.Ala342=) c.864C>G (p.Ala288=) c.1173C>G (p.Ala391=) c.1008C>G (p.Ala336=) c.1257C>G (p.Ala419=) c.1071C>G (p.Ala357=) n.1188C>G | |
13 | g.113118777C>T | CA7060235 | F7 | c.1104C>T (p.Ala368=) c.1170C>T (p.Ala390=) c.918C>T (p.Ala306=) n.1191C>T c.963C>T (p.Ala321=) c.1212C>T (p.Ala404=) c.1026C>T (p.Ala342=) c.864C>T (p.Ala288=) c.1173C>T (p.Ala391=) c.1008C>T (p.Ala336=) c.1257C>T (p.Ala419=) c.1071C>T (p.Ala357=) n.1188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118778G>A | CA7060236 | F7 | c.1105G>A (p.Gly369Ser) c.1171G>A (p.Gly391Ser) c.919G>A (p.Gly307Ser) n.1192G>A c.964G>A (p.Gly322Ser) c.1213G>A (p.Gly405Ser) c.1027G>A (p.Gly343Ser) c.865G>A (p.Gly289Ser) c.1174G>A (p.Gly392Ser) c.1009G>A (p.Gly337Ser) c.1258G>A (p.Gly420Ser) c.1072G>A (p.Gly358Ser) n.1189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118778G>C | CA388786555 | F7 | c.1105G>C (p.Gly369Arg) c.1171G>C (p.Gly391Arg) c.919G>C (p.Gly307Arg) n.1192G>C c.964G>C (p.Gly322Arg) c.1213G>C (p.Gly405Arg) c.1027G>C (p.Gly343Arg) c.865G>C (p.Gly289Arg) c.1174G>C (p.Gly392Arg) c.1009G>C (p.Gly337Arg) c.1258G>C (p.Gly420Arg) c.1072G>C (p.Gly358Arg) n.1189G>C | |
13 | g.113118778G= | CA2120142680 | F7 | c.1105G= (p.Gly369=) c.1171G= (p.Gly391=) c.919G= (p.Gly307=) n.1192G= c.964G= (p.Gly322=) c.1213G= (p.Gly405=) c.1027G= (p.Gly343=) c.865G= (p.Gly289=) c.1174G= (p.Gly392=) c.1009G= (p.Gly337=) c.1258G= (p.Gly420=) c.1072G= (p.Gly358=) n.1189G= | |
13 | g.113118778G>T | CA388786557 | F7 | c.1105G>T (p.Gly369Cys) c.1171G>T (p.Gly391Cys) c.919G>T (p.Gly307Cys) n.1192G>T c.964G>T (p.Gly322Cys) c.1213G>T (p.Gly405Cys) c.1027G>T (p.Gly343Cys) c.865G>T (p.Gly289Cys) c.1174G>T (p.Gly392Cys) c.1009G>T (p.Gly337Cys) c.1258G>T (p.Gly420Cys) c.1072G>T (p.Gly358Cys) n.1189G>T | |
13 | g.113118779G>A | CA388786562 | F7 | c.1106G>A (p.Gly369Asp) c.1172G>A (p.Gly391Asp) c.920G>A (p.Gly307Asp) n.1193G>A c.965G>A (p.Gly322Asp) c.1214G>A (p.Gly405Asp) c.1028G>A (p.Gly343Asp) c.866G>A (p.Gly289Asp) c.1175G>A (p.Gly392Asp) c.1010G>A (p.Gly337Asp) c.1259G>A (p.Gly420Asp) c.1073G>A (p.Gly358Asp) n.1190G>A | COSMIC COSMIC |
13 | g.113118779G>C | CA388786563 | F7 | c.1106G>C (p.Gly369Ala) c.1172G>C (p.Gly391Ala) c.920G>C (p.Gly307Ala) n.1193G>C c.965G>C (p.Gly322Ala) c.1214G>C (p.Gly405Ala) c.1028G>C (p.Gly343Ala) c.866G>C (p.Gly289Ala) c.1175G>C (p.Gly392Ala) c.1010G>C (p.Gly337Ala) c.1259G>C (p.Gly420Ala) c.1073G>C (p.Gly358Ala) n.1190G>C | |
13 | g.113118779G>T | CA388786560 | F7 | c.1106G>T (p.Gly369Val) c.1172G>T (p.Gly391Val) c.920G>T (p.Gly307Val) n.1193G>T c.965G>T (p.Gly322Val) c.1214G>T (p.Gly405Val) c.1028G>T (p.Gly343Val) c.866G>T (p.Gly289Val) c.1175G>T (p.Gly392Val) c.1010G>T (p.Gly337Val) c.1259G>T (p.Gly420Val) c.1073G>T (p.Gly358Val) n.1190G>T | |
13 | g.113118780C>A | CA485424044 | F7 | c.1107C>A (p.Gly369=) c.1173C>A (p.Gly391=) c.921C>A (p.Gly307=) n.1194C>A c.966C>A (p.Gly322=) c.1215C>A (p.Gly405=) c.1029C>A (p.Gly343=) c.867C>A (p.Gly289=) c.1176C>A (p.Gly392=) c.1011C>A (p.Gly337=) c.1260C>A (p.Gly420=) c.1074C>A (p.Gly358=) n.1191C>A | |
13 | g.113118780C>G | CA485424046 | F7 | c.1107C>G (p.Gly369=) c.1173C>G (p.Gly391=) c.921C>G (p.Gly307=) n.1194C>G c.966C>G (p.Gly322=) c.1215C>G (p.Gly405=) c.1029C>G (p.Gly343=) c.867C>G (p.Gly289=) c.1176C>G (p.Gly392=) c.1011C>G (p.Gly337=) c.1260C>G (p.Gly420=) c.1074C>G (p.Gly358=) n.1191C>G | |
13 | g.113118780C>T | CA485424045 | F7 | c.1107C>T (p.Gly369=) c.1173C>T (p.Gly391=) c.921C>T (p.Gly307=) n.1194C>T c.966C>T (p.Gly322=) c.1215C>T (p.Gly405=) c.1029C>T (p.Gly343=) c.867C>T (p.Gly289=) c.1176C>T (p.Gly392=) c.1011C>T (p.Gly337=) c.1260C>T (p.Gly420=) c.1074C>T (p.Gly358=) n.1191C>T | |
13 | g.113118781T>A | CA388786567 | F7 | c.1108T>A (p.Tyr370Asn) c.1174T>A (p.Tyr392Asn) c.922T>A (p.Tyr308Asn) n.1195T>A c.967T>A (p.Tyr323Asn) c.1216T>A (p.Tyr406Asn) c.1030T>A (p.Tyr344Asn) c.868T>A (p.Tyr290Asn) c.1177T>A (p.Tyr393Asn) c.1012T>A (p.Tyr338Asn) c.1261T>A (p.Tyr421Asn) c.1075T>A (p.Tyr359Asn) n.1192T>A | |
13 | g.113118781T>C | CA388786568 | F7 | c.1108T>C (p.Tyr370His) c.1174T>C (p.Tyr392His) c.922T>C (p.Tyr308His) n.1195T>C c.967T>C (p.Tyr323His) c.1216T>C (p.Tyr406His) c.1030T>C (p.Tyr344His) c.868T>C (p.Tyr290His) c.1177T>C (p.Tyr393His) c.1012T>C (p.Tyr338His) c.1261T>C (p.Tyr421His) c.1075T>C (p.Tyr359His) n.1192T>C | |
13 | g.113118781T>G | CA388786570 | F7 | c.1108T>G (p.Tyr370Asp) c.1174T>G (p.Tyr392Asp) c.922T>G (p.Tyr308Asp) n.1195T>G c.967T>G (p.Tyr323Asp) c.1216T>G (p.Tyr406Asp) c.1030T>G (p.Tyr344Asp) c.868T>G (p.Tyr290Asp) c.1177T>G (p.Tyr393Asp) c.1012T>G (p.Tyr338Asp) c.1261T>G (p.Tyr421Asp) c.1075T>G (p.Tyr359Asp) n.1192T>G | |
13 | g.113118782A>C | CA388786573 | F7 | c.1109A>C (p.Tyr370Ser) c.1175A>C (p.Tyr392Ser) c.923A>C (p.Tyr308Ser) n.1196A>C c.968A>C (p.Tyr323Ser) c.1217A>C (p.Tyr406Ser) c.1031A>C (p.Tyr344Ser) c.869A>C (p.Tyr290Ser) c.1178A>C (p.Tyr393Ser) c.1013A>C (p.Tyr338Ser) c.1262A>C (p.Tyr421Ser) c.1076A>C (p.Tyr359Ser) n.1193A>C | |
13 | g.113118782A>G | CA388786574 | F7 | c.1109A>G (p.Tyr370Cys) c.1175A>G (p.Tyr392Cys) c.923A>G (p.Tyr308Cys) n.1196A>G c.968A>G (p.Tyr323Cys) c.1217A>G (p.Tyr406Cys) c.1031A>G (p.Tyr344Cys) c.869A>G (p.Tyr290Cys) c.1178A>G (p.Tyr393Cys) c.1013A>G (p.Tyr338Cys) c.1262A>G (p.Tyr421Cys) c.1076A>G (p.Tyr359Cys) n.1193A>G | gnomAD v4 |
13 | g.113118782A>T | CA388786577 | F7 | c.1109A>T (p.Tyr370Phe) c.1175A>T (p.Tyr392Phe) c.923A>T (p.Tyr308Phe) n.1196A>T c.968A>T (p.Tyr323Phe) c.1217A>T (p.Tyr406Phe) c.1031A>T (p.Tyr344Phe) c.869A>T (p.Tyr290Phe) c.1178A>T (p.Tyr393Phe) c.1013A>T (p.Tyr338Phe) c.1262A>T (p.Tyr421Phe) c.1076A>T (p.Tyr359Phe) n.1193A>T | |
13 | g.113118783C>A | CA388786579 | F7 | c.1110C>A (p.Tyr370Ter) c.1176C>A (p.Tyr392Ter) c.924C>A (p.Tyr308Ter) n.1197C>A c.969C>A (p.Tyr323Ter) c.1218C>A (p.Tyr406Ter) c.1032C>A (p.Tyr344Ter) c.870C>A (p.Tyr290Ter) c.1179C>A (p.Tyr393Ter) c.1014C>A (p.Tyr338Ter) c.1263C>A (p.Tyr421Ter) c.1077C>A (p.Tyr359Ter) n.1194C>A | |
13 | g.113118783C>G | CA388786581 | F7 | c.1110C>G (p.Tyr370Ter) c.1176C>G (p.Tyr392Ter) c.924C>G (p.Tyr308Ter) n.1197C>G c.969C>G (p.Tyr323Ter) c.1218C>G (p.Tyr406Ter) c.1032C>G (p.Tyr344Ter) c.870C>G (p.Tyr290Ter) c.1179C>G (p.Tyr393Ter) c.1014C>G (p.Tyr338Ter) c.1263C>G (p.Tyr421Ter) c.1077C>G (p.Tyr359Ter) n.1194C>G | |
13 | g.113118783C>T | CA485424047 | F7 | c.1110C>T (p.Tyr370=) c.1176C>T (p.Tyr392=) c.924C>T (p.Tyr308=) n.1197C>T c.969C>T (p.Tyr323=) c.1218C>T (p.Tyr406=) c.1032C>T (p.Tyr344=) c.870C>T (p.Tyr290=) c.1179C>T (p.Tyr393=) c.1014C>T (p.Tyr338=) c.1263C>T (p.Tyr421=) c.1077C>T (p.Tyr359=) n.1194C>T | |
13 | g.113118784T>A | CA388786584 | F7 | c.1111T>A (p.Ser371Thr) c.1177T>A (p.Ser393Thr) c.925T>A (p.Ser309Thr) n.1198T>A c.970T>A (p.Ser324Thr) c.1219T>A (p.Ser407Thr) c.1033T>A (p.Ser345Thr) c.871T>A (p.Ser291Thr) c.1180T>A (p.Ser394Thr) c.1015T>A (p.Ser339Thr) c.1264T>A (p.Ser422Thr) c.1078T>A (p.Ser360Thr) n.1195T>A | |
13 | g.113118784T>C | CA388786585 | F7 | c.1111T>C (p.Ser371Pro) c.1177T>C (p.Ser393Pro) c.925T>C (p.Ser309Pro) n.1198T>C c.970T>C (p.Ser324Pro) c.1219T>C (p.Ser407Pro) c.1033T>C (p.Ser345Pro) c.871T>C (p.Ser291Pro) c.1180T>C (p.Ser394Pro) c.1015T>C (p.Ser339Pro) c.1264T>C (p.Ser422Pro) c.1078T>C (p.Ser360Pro) n.1195T>C | |
13 | g.113118784T>G | CA388786587 | F7 | c.1111T>G (p.Ser371Ala) c.1177T>G (p.Ser393Ala) c.925T>G (p.Ser309Ala) n.1198T>G c.970T>G (p.Ser324Ala) c.1219T>G (p.Ser407Ala) c.1033T>G (p.Ser345Ala) c.871T>G (p.Ser291Ala) c.1180T>G (p.Ser394Ala) c.1015T>G (p.Ser339Ala) c.1264T>G (p.Ser422Ala) c.1078T>G (p.Ser360Ala) n.1195T>G | |
13 | g.113118785C>A | CA388786589 | F7 | c.1112C>A (p.Ser371Ter) c.1178C>A (p.Ser393Ter) c.926C>A (p.Ser309Ter) n.1199C>A c.971C>A (p.Ser324Ter) c.1220C>A (p.Ser407Ter) c.1034C>A (p.Ser345Ter) c.872C>A (p.Ser291Ter) c.1181C>A (p.Ser394Ter) c.1016C>A (p.Ser339Ter) c.1265C>A (p.Ser422Ter) c.1079C>A (p.Ser360Ter) n.1196C>A | |
13 | g.113118785C= | CA2120142685 | F7 | c.1112C= (p.Ser371=) c.1178C= (p.Ser393=) c.926C= (p.Ser309=) n.1199C= c.971C= (p.Ser324=) c.1220C= (p.Ser407=) c.1034C= (p.Ser345=) c.872C= (p.Ser291=) c.1181C= (p.Ser394=) c.1016C= (p.Ser339=) c.1265C= (p.Ser422=) c.1079C= (p.Ser360=) n.1196C= | |
13 | g.113118785C>G | CA388786591 | F7 | c.1112C>G (p.Ser371Trp) c.1178C>G (p.Ser393Trp) c.926C>G (p.Ser309Trp) n.1199C>G c.971C>G (p.Ser324Trp) c.1220C>G (p.Ser407Trp) c.1034C>G (p.Ser345Trp) c.872C>G (p.Ser291Trp) c.1181C>G (p.Ser394Trp) c.1016C>G (p.Ser339Trp) c.1265C>G (p.Ser422Trp) c.1079C>G (p.Ser360Trp) n.1196C>G | |
13 | g.113118785C>T | CA7060237 | F7 | c.1112C>T (p.Ser371Leu) c.1178C>T (p.Ser393Leu) c.926C>T (p.Ser309Leu) n.1199C>T c.971C>T (p.Ser324Leu) c.1220C>T (p.Ser407Leu) c.1034C>T (p.Ser345Leu) c.872C>T (p.Ser291Leu) c.1181C>T (p.Ser394Leu) c.1016C>T (p.Ser339Leu) c.1265C>T (p.Ser422Leu) c.1079C>T (p.Ser360Leu) n.1196C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118786G>A | CA7060238 | F7 | c.1113G>A (p.Ser371=) c.1179G>A (p.Ser393=) c.927G>A (p.Ser309=) n.1200G>A c.972G>A (p.Ser324=) c.1221G>A (p.Ser407=) c.1035G>A (p.Ser345=) c.873G>A (p.Ser291=) c.1182G>A (p.Ser394=) c.1017G>A (p.Ser339=) c.1266G>A (p.Ser422=) c.1080G>A (p.Ser360=) n.1197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118786G>C | CA485424048 | F7 | c.1113G>C (p.Ser371=) c.1179G>C (p.Ser393=) c.927G>C (p.Ser309=) n.1200G>C c.972G>C (p.Ser324=) c.1221G>C (p.Ser407=) c.1035G>C (p.Ser345=) c.873G>C (p.Ser291=) c.1182G>C (p.Ser394=) c.1017G>C (p.Ser339=) c.1266G>C (p.Ser422=) c.1080G>C (p.Ser360=) n.1197G>C | |
13 | g.113118786G= | CA2120142693 | F7 | c.1113G= (p.Ser371=) c.1179G= (p.Ser393=) c.927G= (p.Ser309=) n.1200G= c.972G= (p.Ser324=) c.1221G= (p.Ser407=) c.1035G= (p.Ser345=) c.873G= (p.Ser291=) c.1182G= (p.Ser394=) c.1017G= (p.Ser339=) c.1266G= (p.Ser422=) c.1080G= (p.Ser360=) n.1197G= | |
13 | g.113118786G>T | CA485424049 | F7 | c.1113G>T (p.Ser371=) c.1179G>T (p.Ser393=) c.927G>T (p.Ser309=) n.1200G>T c.972G>T (p.Ser324=) c.1221G>T (p.Ser407=) c.1035G>T (p.Ser345=) c.873G>T (p.Ser291=) c.1182G>T (p.Ser394=) c.1017G>T (p.Ser339=) c.1266G>T (p.Ser422=) c.1080G>T (p.Ser360=) n.1197G>T | |
13 | g.113118787G>A | CA388786599 | F7 | c.1114G>A (p.Asp372Asn) c.1180G>A (p.Asp394Asn) c.928G>A (p.Asp310Asn) n.1201G>A c.973G>A (p.Asp325Asn) c.1222G>A (p.Asp408Asn) c.1036G>A (p.Asp346Asn) c.874G>A (p.Asp292Asn) c.1183G>A (p.Asp395Asn) c.1018G>A (p.Asp340Asn) c.1267G>A (p.Asp423Asn) c.1081G>A (p.Asp361Asn) n.1198G>A | |
13 | g.113118787G>C | CA388786596 | F7 | c.1114G>C (p.Asp372His) c.1180G>C (p.Asp394His) c.928G>C (p.Asp310His) n.1201G>C c.973G>C (p.Asp325His) c.1222G>C (p.Asp408His) c.1036G>C (p.Asp346His) c.874G>C (p.Asp292His) c.1183G>C (p.Asp395His) c.1018G>C (p.Asp340His) c.1267G>C (p.Asp423His) c.1081G>C (p.Asp361His) n.1198G>C | |
13 | g.113118787G= | CA2120142698 | F7 | c.1114G= (p.Asp372=) c.1180G= (p.Asp394=) c.928G= (p.Asp310=) n.1201G= c.973G= (p.Asp325=) c.1222G= (p.Asp408=) c.1036G= (p.Asp346=) c.874G= (p.Asp292=) c.1183G= (p.Asp395=) c.1018G= (p.Asp340=) c.1267G= (p.Asp423=) c.1081G= (p.Asp361=) n.1198G= | |
13 | g.113118787G>T | CA388786598 | F7 | c.1114G>T (p.Asp372Tyr) c.1180G>T (p.Asp394Tyr) c.928G>T (p.Asp310Tyr) n.1201G>T c.973G>T (p.Asp325Tyr) c.1222G>T (p.Asp408Tyr) c.1036G>T (p.Asp346Tyr) c.874G>T (p.Asp292Tyr) c.1183G>T (p.Asp395Tyr) c.1018G>T (p.Asp340Tyr) c.1267G>T (p.Asp423Tyr) c.1081G>T (p.Asp361Tyr) n.1198G>T | dbSNP |
13 | g.113118788A>C | CA388786601 | F7 | c.1115A>C (p.Asp372Ala) c.1181A>C (p.Asp394Ala) c.929A>C (p.Asp310Ala) n.1202A>C c.974A>C (p.Asp325Ala) c.1223A>C (p.Asp408Ala) c.1037A>C (p.Asp346Ala) c.875A>C (p.Asp292Ala) c.1184A>C (p.Asp395Ala) c.1019A>C (p.Asp340Ala) c.1268A>C (p.Asp423Ala) c.1082A>C (p.Asp361Ala) n.1199A>C | |
13 | g.113118788A>G | CA388786602 | F7 | c.1115A>G (p.Asp372Gly) c.1181A>G (p.Asp394Gly) c.929A>G (p.Asp310Gly) n.1202A>G c.974A>G (p.Asp325Gly) c.1223A>G (p.Asp408Gly) c.1037A>G (p.Asp346Gly) c.875A>G (p.Asp292Gly) c.1184A>G (p.Asp395Gly) c.1019A>G (p.Asp340Gly) c.1268A>G (p.Asp423Gly) c.1082A>G (p.Asp361Gly) n.1199A>G | gnomAD v4 |
13 | g.113118788A>T | CA388786604 | F7 | c.1115A>T (p.Asp372Val) c.1181A>T (p.Asp394Val) c.929A>T (p.Asp310Val) n.1202A>T c.974A>T (p.Asp325Val) c.1223A>T (p.Asp408Val) c.1037A>T (p.Asp346Val) c.875A>T (p.Asp292Val) c.1184A>T (p.Asp395Val) c.1019A>T (p.Asp340Val) c.1268A>T (p.Asp423Val) c.1082A>T (p.Asp361Val) n.1199A>T | |
13 | g.113118789T>A | CA388786606 | F7 | c.1116T>A (p.Asp372Glu) c.1182T>A (p.Asp394Glu) c.930T>A (p.Asp310Glu) n.1203T>A c.975T>A (p.Asp325Glu) c.1224T>A (p.Asp408Glu) c.1038T>A (p.Asp346Glu) c.876T>A (p.Asp292Glu) c.1185T>A (p.Asp395Glu) c.1020T>A (p.Asp340Glu) c.1269T>A (p.Asp423Glu) c.1083T>A (p.Asp361Glu) n.1200T>A | |
13 | g.113118789T>C | CA485021178 | F7 | c.1116T>C (p.Asp372=) c.1182T>C (p.Asp394=) c.930T>C (p.Asp310=) n.1203T>C c.975T>C (p.Asp325=) c.1224T>C (p.Asp408=) c.1038T>C (p.Asp346=) c.876T>C (p.Asp292=) c.1185T>C (p.Asp395=) c.1020T>C (p.Asp340=) c.1269T>C (p.Asp423=) c.1083T>C (p.Asp361=) n.1200T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118789T>G | CA388786607 | F7 | c.1116T>G (p.Asp372Glu) c.1182T>G (p.Asp394Glu) c.930T>G (p.Asp310Glu) n.1203T>G c.975T>G (p.Asp325Glu) c.1224T>G (p.Asp408Glu) c.1038T>G (p.Asp346Glu) c.876T>G (p.Asp292Glu) c.1185T>G (p.Asp395Glu) c.1020T>G (p.Asp340Glu) c.1269T>G (p.Asp423Glu) c.1083T>G (p.Asp361Glu) n.1200T>G | |
13 | g.113118789T= | CA2120142703 | F7 | c.1116T= (p.Asp372=) c.1182T= (p.Asp394=) c.930T= (p.Asp310=) n.1203T= c.975T= (p.Asp325=) c.1224T= (p.Asp408=) c.1038T= (p.Asp346=) c.876T= (p.Asp292=) c.1185T= (p.Asp395=) c.1020T= (p.Asp340=) c.1269T= (p.Asp423=) c.1083T= (p.Asp361=) n.1200T= | |
13 | g.113118790G>A | CA388786610 | F7 | c.1117G>A (p.Gly373Ser) c.1183G>A (p.Gly395Ser) c.931G>A (p.Gly311Ser) n.1204G>A c.976G>A (p.Gly326Ser) c.1225G>A (p.Gly409Ser) c.1039G>A (p.Gly347Ser) c.877G>A (p.Gly293Ser) c.1186G>A (p.Gly396Ser) c.1021G>A (p.Gly341Ser) c.1270G>A (p.Gly424Ser) c.1084G>A (p.Gly362Ser) n.1201G>A | |
13 | g.113118790G>C | CA388786612 | F7 | c.1117G>C (p.Gly373Arg) c.1183G>C (p.Gly395Arg) c.931G>C (p.Gly311Arg) n.1204G>C c.976G>C (p.Gly326Arg) c.1225G>C (p.Gly409Arg) c.1039G>C (p.Gly347Arg) c.877G>C (p.Gly293Arg) c.1186G>C (p.Gly396Arg) c.1021G>C (p.Gly341Arg) c.1270G>C (p.Gly424Arg) c.1084G>C (p.Gly362Arg) n.1201G>C | |
13 | g.113118790G>T | CA388786614 | F7 | c.1117G>T (p.Gly373Cys) c.1183G>T (p.Gly395Cys) c.931G>T (p.Gly311Cys) n.1204G>T c.976G>T (p.Gly326Cys) c.1225G>T (p.Gly409Cys) c.1039G>T (p.Gly347Cys) c.877G>T (p.Gly293Cys) c.1186G>T (p.Gly396Cys) c.1021G>T (p.Gly341Cys) c.1270G>T (p.Gly424Cys) c.1084G>T (p.Gly362Cys) n.1201G>T | |
13 | g.113118791G>A | CA388786616 | F7 | c.1118G>A (p.Gly373Asp) c.1184G>A (p.Gly395Asp) c.932G>A (p.Gly311Asp) n.1205G>A c.977G>A (p.Gly326Asp) c.1226G>A (p.Gly409Asp) c.1040G>A (p.Gly347Asp) c.878G>A (p.Gly293Asp) c.1187G>A (p.Gly396Asp) c.1022G>A (p.Gly341Asp) c.1271G>A (p.Gly424Asp) c.1085G>A (p.Gly362Asp) n.1202G>A | gnomAD v4 |
13 | g.113118791G>C | CA388786618 | F7 | c.1118G>C (p.Gly373Ala) c.1184G>C (p.Gly395Ala) c.932G>C (p.Gly311Ala) n.1205G>C c.977G>C (p.Gly326Ala) c.1226G>C (p.Gly409Ala) c.1040G>C (p.Gly347Ala) c.878G>C (p.Gly293Ala) c.1187G>C (p.Gly396Ala) c.1022G>C (p.Gly341Ala) c.1271G>C (p.Gly424Ala) c.1085G>C (p.Gly362Ala) n.1202G>C | |
13 | g.113118791G>T | CA388786620 | F7 | c.1118G>T (p.Gly373Val) c.1184G>T (p.Gly395Val) c.932G>T (p.Gly311Val) n.1205G>T c.977G>T (p.Gly326Val) c.1226G>T (p.Gly409Val) c.1040G>T (p.Gly347Val) c.878G>T (p.Gly293Val) c.1187G>T (p.Gly396Val) c.1022G>T (p.Gly341Val) c.1271G>T (p.Gly424Val) c.1085G>T (p.Gly362Val) n.1202G>T | |
13 | g.113118792C>A | CA485021179 | F7 | c.1119C>A (p.Gly373=) c.1185C>A (p.Gly395=) c.933C>A (p.Gly311=) n.1206C>A c.978C>A (p.Gly326=) c.1227C>A (p.Gly409=) c.1041C>A (p.Gly347=) c.879C>A (p.Gly293=) c.1188C>A (p.Gly396=) c.1023C>A (p.Gly341=) c.1272C>A (p.Gly424=) c.1086C>A (p.Gly362=) n.1203C>A | |
13 | g.113118792C>G | CA485021180 | F7 | c.1119C>G (p.Gly373=) c.1185C>G (p.Gly395=) c.933C>G (p.Gly311=) n.1206C>G c.978C>G (p.Gly326=) c.1227C>G (p.Gly409=) c.1041C>G (p.Gly347=) c.879C>G (p.Gly293=) c.1188C>G (p.Gly396=) c.1023C>G (p.Gly341=) c.1272C>G (p.Gly424=) c.1086C>G (p.Gly362=) n.1203C>G | |
13 | g.113118792C>T | CA485021181 | F7 | c.1119C>T (p.Gly373=) c.1185C>T (p.Gly395=) c.933C>T (p.Gly311=) n.1206C>T c.978C>T (p.Gly326=) c.1227C>T (p.Gly409=) c.1041C>T (p.Gly347=) c.879C>T (p.Gly293=) c.1188C>T (p.Gly396=) c.1023C>T (p.Gly341=) c.1272C>T (p.Gly424=) c.1086C>T (p.Gly362=) n.1203C>T | |
13 | g.113118793A>C | CA388786623 | F7 | c.1120A>C (p.Ser374Arg) c.1186A>C (p.Ser396Arg) c.934A>C (p.Ser312Arg) n.1207A>C c.979A>C (p.Ser327Arg) c.1228A>C (p.Ser410Arg) c.1042A>C (p.Ser348Arg) c.880A>C (p.Ser294Arg) c.1189A>C (p.Ser397Arg) c.1024A>C (p.Ser342Arg) c.1273A>C (p.Ser425Arg) c.1087A>C (p.Ser363Arg) n.1204A>C | |
13 | g.113118793A>G | CA388786625 | F7 | c.1120A>G (p.Ser374Gly) c.1186A>G (p.Ser396Gly) c.934A>G (p.Ser312Gly) n.1207A>G c.979A>G (p.Ser327Gly) c.1228A>G (p.Ser410Gly) c.1042A>G (p.Ser348Gly) c.880A>G (p.Ser294Gly) c.1189A>G (p.Ser397Gly) c.1024A>G (p.Ser342Gly) c.1273A>G (p.Ser425Gly) c.1087A>G (p.Ser363Gly) n.1204A>G | gnomAD v4 |
13 | g.113118793A>T | CA388786621 | F7 | c.1120A>T (p.Ser374Cys) c.1186A>T (p.Ser396Cys) c.934A>T (p.Ser312Cys) n.1207A>T c.979A>T (p.Ser327Cys) c.1228A>T (p.Ser410Cys) c.1042A>T (p.Ser348Cys) c.880A>T (p.Ser294Cys) c.1189A>T (p.Ser397Cys) c.1024A>T (p.Ser342Cys) c.1273A>T (p.Ser425Cys) c.1087A>T (p.Ser363Cys) n.1204A>T | |
13 | g.113118794G>A | CA388786627 | F7 | c.1121G>A (p.Ser374Asn) c.1187G>A (p.Ser396Asn) c.935G>A (p.Ser312Asn) n.1208G>A c.980G>A (p.Ser327Asn) c.1229G>A (p.Ser410Asn) c.1043G>A (p.Ser348Asn) c.881G>A (p.Ser294Asn) c.1190G>A (p.Ser397Asn) c.1025G>A (p.Ser342Asn) c.1274G>A (p.Ser425Asn) c.1088G>A (p.Ser363Asn) n.1205G>A | |
13 | g.113118794G>C | CA388786629 | F7 | c.1121G>C (p.Ser374Thr) c.1187G>C (p.Ser396Thr) c.935G>C (p.Ser312Thr) n.1208G>C c.980G>C (p.Ser327Thr) c.1229G>C (p.Ser410Thr) c.1043G>C (p.Ser348Thr) c.881G>C (p.Ser294Thr) c.1190G>C (p.Ser397Thr) c.1025G>C (p.Ser342Thr) c.1274G>C (p.Ser425Thr) c.1088G>C (p.Ser363Thr) n.1205G>C | |
13 | g.113118794G>T | CA388786631 | F7 | c.1121G>T (p.Ser374Ile) c.1187G>T (p.Ser396Ile) c.935G>T (p.Ser312Ile) n.1208G>T c.980G>T (p.Ser327Ile) c.1229G>T (p.Ser410Ile) c.1043G>T (p.Ser348Ile) c.881G>T (p.Ser294Ile) c.1190G>T (p.Ser397Ile) c.1025G>T (p.Ser342Ile) c.1274G>T (p.Ser425Ile) c.1088G>T (p.Ser363Ile) n.1205G>T | COSMIC COSMIC |
13 | g.113118795del | CA2800652057 | F7 | c.1122del (p.Ser374ArgfsTer23) c.1188del (p.Ser396ArgfsTer23) c.936del (p.Ser312ArgfsTer23) n.1209del c.981del (p.Ser327ArgfsTer23) c.1230del (p.Ser410ArgfsTer23) c.1044del (p.Ser348ArgfsTer23) c.882del (p.Ser294ArgfsTer23) c.1191del (p.Ser397ArgfsTer23) c.1026del (p.Ser342ArgfsTer23) c.1275del (p.Ser425ArgfsTer23) c.1089del (p.Ser363ArgfsTer23) n.1206del | |
13 | g.113118795C>A | CA388786633 | F7 | c.1122C>A (p.Ser374Arg) c.1188C>A (p.Ser396Arg) c.936C>A (p.Ser312Arg) n.1209C>A c.981C>A (p.Ser327Arg) c.1230C>A (p.Ser410Arg) c.1044C>A (p.Ser348Arg) c.882C>A (p.Ser294Arg) c.1191C>A (p.Ser397Arg) c.1026C>A (p.Ser342Arg) c.1275C>A (p.Ser425Arg) c.1089C>A (p.Ser363Arg) n.1206C>A | |
13 | g.113118795C>G | CA388786635 | F7 | c.1122C>G (p.Ser374Arg) c.1188C>G (p.Ser396Arg) c.936C>G (p.Ser312Arg) n.1209C>G c.981C>G (p.Ser327Arg) c.1230C>G (p.Ser410Arg) c.1044C>G (p.Ser348Arg) c.882C>G (p.Ser294Arg) c.1191C>G (p.Ser397Arg) c.1026C>G (p.Ser342Arg) c.1275C>G (p.Ser425Arg) c.1089C>G (p.Ser363Arg) n.1206C>G | |
13 | g.113118795C>T | CA485021182 | F7 | c.1122C>T (p.Ser374=) c.1188C>T (p.Ser396=) c.936C>T (p.Ser312=) n.1209C>T c.981C>T (p.Ser327=) c.1230C>T (p.Ser410=) c.1044C>T (p.Ser348=) c.882C>T (p.Ser294=) c.1191C>T (p.Ser397=) c.1026C>T (p.Ser342=) c.1275C>T (p.Ser425=) c.1089C>T (p.Ser363=) n.1206C>T | |
13 | g.113118796A>C | CA388786640 | F7 | c.1123A>C (p.Lys375Gln) c.1189A>C (p.Lys397Gln) c.937A>C (p.Lys313Gln) n.1210A>C c.982A>C (p.Lys328Gln) c.1231A>C (p.Lys411Gln) c.1045A>C (p.Lys349Gln) c.883A>C (p.Lys295Gln) c.1192A>C (p.Lys398Gln) c.1027A>C (p.Lys343Gln) c.1276A>C (p.Lys426Gln) c.1090A>C (p.Lys364Gln) n.1207A>C | |
13 | g.113118796A>G | CA388786637 | F7 | c.1123A>G (p.Lys375Glu) c.1189A>G (p.Lys397Glu) c.937A>G (p.Lys313Glu) n.1210A>G c.982A>G (p.Lys328Glu) c.1231A>G (p.Lys411Glu) c.1045A>G (p.Lys349Glu) c.883A>G (p.Lys295Glu) c.1192A>G (p.Lys398Glu) c.1027A>G (p.Lys343Glu) c.1276A>G (p.Lys426Glu) c.1090A>G (p.Lys364Glu) n.1207A>G | |
13 | g.113118796A>T | CA388786639 | F7 | c.1123A>T (p.Lys375Ter) c.1189A>T (p.Lys397Ter) c.937A>T (p.Lys313Ter) n.1210A>T c.982A>T (p.Lys328Ter) c.1231A>T (p.Lys411Ter) c.1045A>T (p.Lys349Ter) c.883A>T (p.Lys295Ter) c.1192A>T (p.Lys398Ter) c.1027A>T (p.Lys343Ter) c.1276A>T (p.Lys426Ter) c.1090A>T (p.Lys364Ter) n.1207A>T | |
13 | g.113118797A>C | CA388786644 | F7 | c.1124A>C (p.Lys375Thr) c.1190A>C (p.Lys397Thr) c.938A>C (p.Lys313Thr) n.1211A>C c.983A>C (p.Lys328Thr) c.1232A>C (p.Lys411Thr) c.1046A>C (p.Lys349Thr) c.884A>C (p.Lys295Thr) c.1193A>C (p.Lys398Thr) c.1028A>C (p.Lys343Thr) c.1277A>C (p.Lys426Thr) c.1091A>C (p.Lys364Thr) n.1208A>C | |
13 | g.113118797A>G | CA388786646 | F7 | c.1124A>G (p.Lys375Arg) c.1190A>G (p.Lys397Arg) c.938A>G (p.Lys313Arg) n.1211A>G c.983A>G (p.Lys328Arg) c.1232A>G (p.Lys411Arg) c.1046A>G (p.Lys349Arg) c.884A>G (p.Lys295Arg) c.1193A>G (p.Lys398Arg) c.1028A>G (p.Lys343Arg) c.1277A>G (p.Lys426Arg) c.1091A>G (p.Lys364Arg) n.1208A>G | |
13 | g.113118797A>T | CA388786648 | F7 | c.1124A>T (p.Lys375Met) c.1190A>T (p.Lys397Met) c.938A>T (p.Lys313Met) n.1211A>T c.983A>T (p.Lys328Met) c.1232A>T (p.Lys411Met) c.1046A>T (p.Lys349Met) c.884A>T (p.Lys295Met) c.1193A>T (p.Lys398Met) c.1028A>T (p.Lys343Met) c.1277A>T (p.Lys426Met) c.1091A>T (p.Lys364Met) n.1208A>T | |
13 | g.113118798G>A | CA485021183 | F7 | c.1125G>A (p.Lys375=) c.1191G>A (p.Lys397=) c.939G>A (p.Lys313=) n.1212G>A c.984G>A (p.Lys328=) c.1233G>A (p.Lys411=) c.1047G>A (p.Lys349=) c.885G>A (p.Lys295=) c.1194G>A (p.Lys398=) c.1029G>A (p.Lys343=) c.1278G>A (p.Lys426=) c.1092G>A (p.Lys364=) n.1209G>A | gnomAD v4 |
13 | g.113118798G>C | CA388786650 | F7 | c.1125G>C (p.Lys375Asn) c.1191G>C (p.Lys397Asn) c.939G>C (p.Lys313Asn) n.1212G>C c.984G>C (p.Lys328Asn) c.1233G>C (p.Lys411Asn) c.1047G>C (p.Lys349Asn) c.885G>C (p.Lys295Asn) c.1194G>C (p.Lys398Asn) c.1029G>C (p.Lys343Asn) c.1278G>C (p.Lys426Asn) c.1092G>C (p.Lys364Asn) n.1209G>C | |
13 | g.113118798G>T | CA388786652 | F7 | c.1125G>T (p.Lys375Asn) c.1191G>T (p.Lys397Asn) c.939G>T (p.Lys313Asn) n.1212G>T c.984G>T (p.Lys328Asn) c.1233G>T (p.Lys411Asn) c.1047G>T (p.Lys349Asn) c.885G>T (p.Lys295Asn) c.1194G>T (p.Lys398Asn) c.1029G>T (p.Lys343Asn) c.1278G>T (p.Lys426Asn) c.1092G>T (p.Lys364Asn) n.1209G>T | |
13 | g.113118799G>A | CA388786655 | F7 | c.1126G>A (p.Asp376Asn) c.1192G>A (p.Asp398Asn) c.940G>A (p.Asp314Asn) n.1213G>A c.985G>A (p.Asp329Asn) c.1234G>A (p.Asp412Asn) c.1048G>A (p.Asp350Asn) c.886G>A (p.Asp296Asn) c.1195G>A (p.Asp399Asn) c.1030G>A (p.Asp344Asn) c.1279G>A (p.Asp427Asn) c.1093G>A (p.Asp365Asn) n.1210G>A | |
13 | g.113118799G>C | CA388786659 | F7 | c.1126G>C (p.Asp376His) c.1192G>C (p.Asp398His) c.940G>C (p.Asp314His) n.1213G>C c.985G>C (p.Asp329His) c.1234G>C (p.Asp412His) c.1048G>C (p.Asp350His) c.886G>C (p.Asp296His) c.1195G>C (p.Asp399His) c.1030G>C (p.Asp344His) c.1279G>C (p.Asp427His) c.1093G>C (p.Asp365His) n.1210G>C | |
13 | g.113118799G>T | CA388786657 | F7 | c.1126G>T (p.Asp376Tyr) c.1192G>T (p.Asp398Tyr) c.940G>T (p.Asp314Tyr) n.1213G>T c.985G>T (p.Asp329Tyr) c.1234G>T (p.Asp412Tyr) c.1048G>T (p.Asp350Tyr) c.886G>T (p.Asp296Tyr) c.1195G>T (p.Asp399Tyr) c.1030G>T (p.Asp344Tyr) c.1279G>T (p.Asp427Tyr) c.1093G>T (p.Asp365Tyr) n.1210G>T | |
13 | g.113118800A>C | CA388786661 | F7 | c.1127A>C (p.Asp376Ala) c.1193A>C (p.Asp398Ala) c.941A>C (p.Asp314Ala) n.1214A>C c.986A>C (p.Asp329Ala) c.1235A>C (p.Asp412Ala) c.1049A>C (p.Asp350Ala) c.887A>C (p.Asp296Ala) c.1196A>C (p.Asp399Ala) c.1031A>C (p.Asp344Ala) c.1280A>C (p.Asp427Ala) c.1094A>C (p.Asp365Ala) n.1211A>C | |
13 | g.113118800A>G | CA388786666 | F7 | c.1127A>G (p.Asp376Gly) c.1193A>G (p.Asp398Gly) c.941A>G (p.Asp314Gly) n.1214A>G c.986A>G (p.Asp329Gly) c.1235A>G (p.Asp412Gly) c.1049A>G (p.Asp350Gly) c.887A>G (p.Asp296Gly) c.1196A>G (p.Asp399Gly) c.1031A>G (p.Asp344Gly) c.1280A>G (p.Asp427Gly) c.1094A>G (p.Asp365Gly) n.1211A>G | |
13 | g.113118800A>T | CA388786663 | F7 | c.1127A>T (p.Asp376Val) c.1193A>T (p.Asp398Val) c.941A>T (p.Asp314Val) n.1214A>T c.986A>T (p.Asp329Val) c.1235A>T (p.Asp412Val) c.1049A>T (p.Asp350Val) c.887A>T (p.Asp296Val) c.1196A>T (p.Asp399Val) c.1031A>T (p.Asp344Val) c.1280A>T (p.Asp427Val) c.1094A>T (p.Asp365Val) n.1211A>T | |
13 | g.113118801C>A | CA388786667 | F7 | c.1128C>A (p.Asp376Glu) c.1194C>A (p.Asp398Glu) c.942C>A (p.Asp314Glu) n.1215C>A c.987C>A (p.Asp329Glu) c.1236C>A (p.Asp412Glu) c.1050C>A (p.Asp350Glu) c.888C>A (p.Asp296Glu) c.1197C>A (p.Asp399Glu) c.1032C>A (p.Asp344Glu) c.1281C>A (p.Asp427Glu) c.1095C>A (p.Asp365Glu) n.1212C>A | |
13 | g.113118801C>G | CA388786669 | F7 | c.1128C>G (p.Asp376Glu) c.1194C>G (p.Asp398Glu) c.942C>G (p.Asp314Glu) n.1215C>G c.987C>G (p.Asp329Glu) c.1236C>G (p.Asp412Glu) c.1050C>G (p.Asp350Glu) c.888C>G (p.Asp296Glu) c.1197C>G (p.Asp399Glu) c.1032C>G (p.Asp344Glu) c.1281C>G (p.Asp427Glu) c.1095C>G (p.Asp365Glu) n.1212C>G | |
13 | g.113118801C>T | CA485021184 | F7 | c.1128C>T (p.Asp376=) c.1194C>T (p.Asp398=) c.942C>T (p.Asp314=) n.1215C>T c.987C>T (p.Asp329=) c.1236C>T (p.Asp412=) c.1050C>T (p.Asp350=) c.888C>T (p.Asp296=) c.1197C>T (p.Asp399=) c.1032C>T (p.Asp344=) c.1281C>T (p.Asp427=) c.1095C>T (p.Asp365=) n.1212C>T | |
13 | g.113118802T>A | CA388786670 | F7 | c.1129T>A (p.Ser377Thr) c.1195T>A (p.Ser399Thr) c.943T>A (p.Ser315Thr) n.1216T>A c.988T>A (p.Ser330Thr) c.1237T>A (p.Ser413Thr) c.1051T>A (p.Ser351Thr) c.889T>A (p.Ser297Thr) c.1198T>A (p.Ser400Thr) c.1033T>A (p.Ser345Thr) c.1282T>A (p.Ser428Thr) c.1096T>A (p.Ser366Thr) n.1213T>A | |
13 | g.113118802T>C | CA388786671 | F7 | c.1129T>C (p.Ser377Pro) c.1195T>C (p.Ser399Pro) c.943T>C (p.Ser315Pro) n.1216T>C c.988T>C (p.Ser330Pro) c.1237T>C (p.Ser413Pro) c.1051T>C (p.Ser351Pro) c.889T>C (p.Ser297Pro) c.1198T>C (p.Ser400Pro) c.1033T>C (p.Ser345Pro) c.1282T>C (p.Ser428Pro) c.1096T>C (p.Ser366Pro) n.1213T>C | dbSNP gnomAD v4 |
13 | g.113118802T>G | CA388786674 | F7 | c.1129T>G (p.Ser377Ala) c.1195T>G (p.Ser399Ala) c.943T>G (p.Ser315Ala) n.1216T>G c.988T>G (p.Ser330Ala) c.1237T>G (p.Ser413Ala) c.1051T>G (p.Ser351Ala) c.889T>G (p.Ser297Ala) c.1198T>G (p.Ser400Ala) c.1033T>G (p.Ser345Ala) c.1282T>G (p.Ser428Ala) c.1096T>G (p.Ser366Ala) n.1213T>G | |
13 | g.113118802T= | CA2120142708 | F7 | c.1129T= (p.Ser377=) c.1195T= (p.Ser399=) c.943T= (p.Ser315=) n.1216T= c.988T= (p.Ser330=) c.1237T= (p.Ser413=) c.1051T= (p.Ser351=) c.889T= (p.Ser297=) c.1198T= (p.Ser400=) c.1033T= (p.Ser345=) c.1282T= (p.Ser428=) c.1096T= (p.Ser366=) n.1213T= | |
13 | g.113118803C>A | CA388786676 | F7 | c.1130C>A (p.Ser377Tyr) c.1196C>A (p.Ser399Tyr) c.944C>A (p.Ser315Tyr) n.1217C>A c.989C>A (p.Ser330Tyr) c.1238C>A (p.Ser413Tyr) c.1052C>A (p.Ser351Tyr) c.890C>A (p.Ser297Tyr) c.1199C>A (p.Ser400Tyr) c.1034C>A (p.Ser345Tyr) c.1283C>A (p.Ser428Tyr) c.1097C>A (p.Ser366Tyr) n.1214C>A | |
13 | g.113118803C>G | CA388786678 | F7 | c.1130C>G (p.Ser377Cys) c.1196C>G (p.Ser399Cys) c.944C>G (p.Ser315Cys) n.1217C>G c.989C>G (p.Ser330Cys) c.1238C>G (p.Ser413Cys) c.1052C>G (p.Ser351Cys) c.890C>G (p.Ser297Cys) c.1199C>G (p.Ser400Cys) c.1034C>G (p.Ser345Cys) c.1283C>G (p.Ser428Cys) c.1097C>G (p.Ser366Cys) n.1214C>G | |
13 | g.113118803C>T | CA388786680 | F7 | c.1130C>T (p.Ser377Phe) c.1196C>T (p.Ser399Phe) c.944C>T (p.Ser315Phe) n.1217C>T c.989C>T (p.Ser330Phe) c.1238C>T (p.Ser413Phe) c.1052C>T (p.Ser351Phe) c.890C>T (p.Ser297Phe) c.1199C>T (p.Ser400Phe) c.1034C>T (p.Ser345Phe) c.1283C>T (p.Ser428Phe) c.1097C>T (p.Ser366Phe) n.1214C>T | |
13 | g.113118804C>A | CA485021185 | F7 | c.1131C>A (p.Ser377=) c.1197C>A (p.Ser399=) c.945C>A (p.Ser315=) n.1218C>A c.990C>A (p.Ser330=) c.1239C>A (p.Ser413=) c.1053C>A (p.Ser351=) c.891C>A (p.Ser297=) c.1200C>A (p.Ser400=) c.1035C>A (p.Ser345=) c.1284C>A (p.Ser428=) c.1098C>A (p.Ser366=) n.1215C>A | |
13 | g.113118804C>G | CA485021186 | F7 | c.1131C>G (p.Ser377=) c.1197C>G (p.Ser399=) c.945C>G (p.Ser315=) n.1218C>G c.990C>G (p.Ser330=) c.1239C>G (p.Ser413=) c.1053C>G (p.Ser351=) c.891C>G (p.Ser297=) c.1200C>G (p.Ser400=) c.1035C>G (p.Ser345=) c.1284C>G (p.Ser428=) c.1098C>G (p.Ser366=) n.1215C>G | |
13 | g.113118804C>T | CA485021187 | F7 | c.1131C>T (p.Ser377=) c.1197C>T (p.Ser399=) c.945C>T (p.Ser315=) n.1218C>T c.990C>T (p.Ser330=) c.1239C>T (p.Ser413=) c.1053C>T (p.Ser351=) c.891C>T (p.Ser297=) c.1200C>T (p.Ser400=) c.1035C>T (p.Ser345=) c.1284C>T (p.Ser428=) c.1098C>T (p.Ser366=) n.1215C>T | |
13 | g.113118805T>A | CA388786683 | F7 | c.1132T>A (p.Cys378Ser) c.1198T>A (p.Cys400Ser) c.946T>A (p.Cys316Ser) n.1219T>A c.991T>A (p.Cys331Ser) c.1240T>A (p.Cys414Ser) c.1054T>A (p.Cys352Ser) c.892T>A (p.Cys298Ser) c.1201T>A (p.Cys401Ser) c.1036T>A (p.Cys346Ser) c.1285T>A (p.Cys429Ser) c.1099T>A (p.Cys367Ser) n.1216T>A | |
13 | g.113118805T>C | CA388786685 | F7 | c.1132T>C (p.Cys378Arg) c.1198T>C (p.Cys400Arg) c.946T>C (p.Cys316Arg) n.1219T>C c.991T>C (p.Cys331Arg) c.1240T>C (p.Cys414Arg) c.1054T>C (p.Cys352Arg) c.892T>C (p.Cys298Arg) c.1201T>C (p.Cys401Arg) c.1036T>C (p.Cys346Arg) c.1285T>C (p.Cys429Arg) c.1099T>C (p.Cys367Arg) n.1216T>C | |
13 | g.113118805T>G | CA388786687 | F7 | c.1132T>G (p.Cys378Gly) c.1198T>G (p.Cys400Gly) c.946T>G (p.Cys316Gly) n.1219T>G c.991T>G (p.Cys331Gly) c.1240T>G (p.Cys414Gly) c.1054T>G (p.Cys352Gly) c.892T>G (p.Cys298Gly) c.1201T>G (p.Cys401Gly) c.1036T>G (p.Cys346Gly) c.1285T>G (p.Cys429Gly) c.1099T>G (p.Cys367Gly) n.1216T>G | |
13 | g.113118806G>A | CA388786693 | F7 | c.1133G>A (p.Cys378Tyr) c.1199G>A (p.Cys400Tyr) c.947G>A (p.Cys316Tyr) n.1220G>A c.992G>A (p.Cys331Tyr) c.1241G>A (p.Cys414Tyr) c.1055G>A (p.Cys352Tyr) c.893G>A (p.Cys298Tyr) c.1202G>A (p.Cys401Tyr) c.1037G>A (p.Cys346Tyr) c.1286G>A (p.Cys429Tyr) c.1100G>A (p.Cys367Tyr) n.1217G>A | gnomAD v4 |
13 | g.113118806G>C | CA388786690 | F7 | c.1133G>C (p.Cys378Ser) c.1199G>C (p.Cys400Ser) c.947G>C (p.Cys316Ser) n.1220G>C c.992G>C (p.Cys331Ser) c.1241G>C (p.Cys414Ser) c.1055G>C (p.Cys352Ser) c.893G>C (p.Cys298Ser) c.1202G>C (p.Cys401Ser) c.1037G>C (p.Cys346Ser) c.1286G>C (p.Cys429Ser) c.1100G>C (p.Cys367Ser) n.1217G>C | |
13 | g.113118806G>T | CA388786691 | F7 | c.1133G>T (p.Cys378Phe) c.1199G>T (p.Cys400Phe) c.947G>T (p.Cys316Phe) n.1220G>T c.992G>T (p.Cys331Phe) c.1241G>T (p.Cys414Phe) c.1055G>T (p.Cys352Phe) c.893G>T (p.Cys298Phe) c.1202G>T (p.Cys401Phe) c.1037G>T (p.Cys346Phe) c.1286G>T (p.Cys429Phe) c.1100G>T (p.Cys367Phe) n.1217G>T | |
13 | g.113118807C>A | CA388786695 | F7 | c.1134C>A (p.Cys378Ter) c.1200C>A (p.Cys400Ter) c.948C>A (p.Cys316Ter) n.1221C>A c.993C>A (p.Cys331Ter) c.1242C>A (p.Cys414Ter) c.1056C>A (p.Cys352Ter) c.894C>A (p.Cys298Ter) c.1203C>A (p.Cys401Ter) c.1038C>A (p.Cys346Ter) c.1287C>A (p.Cys429Ter) c.1101C>A (p.Cys367Ter) n.1218C>A | |
13 | g.113118807C= | CA2120142713 | F7 | c.1134C= (p.Cys378=) c.1200C= (p.Cys400=) c.948C= (p.Cys316=) n.1221C= c.993C= (p.Cys331=) c.1242C= (p.Cys414=) c.1056C= (p.Cys352=) c.894C= (p.Cys298=) c.1203C= (p.Cys401=) c.1038C= (p.Cys346=) c.1287C= (p.Cys429=) c.1101C= (p.Cys367=) n.1218C= | |
13 | g.113118807C>G | CA388786697 | F7 | c.1134C>G (p.Cys378Trp) c.1200C>G (p.Cys400Trp) c.948C>G (p.Cys316Trp) n.1221C>G c.993C>G (p.Cys331Trp) c.1242C>G (p.Cys414Trp) c.1056C>G (p.Cys352Trp) c.894C>G (p.Cys298Trp) c.1203C>G (p.Cys401Trp) c.1038C>G (p.Cys346Trp) c.1287C>G (p.Cys429Trp) c.1101C>G (p.Cys367Trp) n.1218C>G | |
13 | g.113118807C>T | CA485021188 | F7 | c.1134C>T (p.Cys378=) c.1200C>T (p.Cys400=) c.948C>T (p.Cys316=) n.1221C>T c.993C>T (p.Cys331=) c.1242C>T (p.Cys414=) c.1056C>T (p.Cys352=) c.894C>T (p.Cys298=) c.1203C>T (p.Cys401=) c.1038C>T (p.Cys346=) c.1287C>T (p.Cys429=) c.1101C>T (p.Cys367=) n.1218C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118808A= | CA2120142715 | F7 | c.1135A= (p.Lys379=) c.1201A= (p.Lys401=) c.949A= (p.Lys317=) n.1222A= c.994A= (p.Lys332=) c.1243A= (p.Lys415=) c.1057A= (p.Lys353=) c.895A= (p.Lys299=) c.1204A= (p.Lys402=) c.1039A= (p.Lys347=) c.1288A= (p.Lys430=) c.1102A= (p.Lys368=) n.1219A= | |
13 | g.113118808A>C | CA388786699 | F7 | c.1135A>C (p.Lys379Gln) c.1201A>C (p.Lys401Gln) c.949A>C (p.Lys317Gln) n.1222A>C c.994A>C (p.Lys332Gln) c.1243A>C (p.Lys415Gln) c.1057A>C (p.Lys353Gln) c.895A>C (p.Lys299Gln) c.1204A>C (p.Lys402Gln) c.1039A>C (p.Lys347Gln) c.1288A>C (p.Lys430Gln) c.1102A>C (p.Lys368Gln) n.1219A>C | |
13 | g.113118808A>G | CA7060239 | F7 | c.1135A>G (p.Lys379Glu) c.1201A>G (p.Lys401Glu) c.949A>G (p.Lys317Glu) n.1222A>G c.994A>G (p.Lys332Glu) c.1243A>G (p.Lys415Glu) c.1057A>G (p.Lys353Glu) c.895A>G (p.Lys299Glu) c.1204A>G (p.Lys402Glu) c.1039A>G (p.Lys347Glu) c.1288A>G (p.Lys430Glu) c.1102A>G (p.Lys368Glu) n.1219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118808A>T | CA388786702 | F7 | c.1135A>T (p.Lys379Ter) c.1201A>T (p.Lys401Ter) c.949A>T (p.Lys317Ter) n.1222A>T c.994A>T (p.Lys332Ter) c.1243A>T (p.Lys415Ter) c.1057A>T (p.Lys353Ter) c.895A>T (p.Lys299Ter) c.1204A>T (p.Lys402Ter) c.1039A>T (p.Lys347Ter) c.1288A>T (p.Lys430Ter) c.1102A>T (p.Lys368Ter) n.1219A>T | |
13 | g.113118809dup | CA2695218992 | F7 | c.1136dup (p.Asp381GlyfsTer?) c.1202dup (p.Asp403GlyfsTer?) c.950dup (p.Asp319GlyfsTer?) n.1223dup c.995dup (p.Asp334GlyfsTer?) c.1244dup (p.Asp417GlyfsTer?) c.1058dup (p.Asp355GlyfsTer?) c.896dup (p.Asp301GlyfsTer?) c.1205dup (p.Asp404GlyfsTer?) c.1040dup (p.Asp349GlyfsTer?) c.1289dup (p.Asp432GlyfsTer?) c.1103dup (p.Asp370GlyfsTer?) n.1220dup | |
13 | g.113118809A>C | CA388786705 | F7 | c.1136A>C (p.Lys379Thr) c.1202A>C (p.Lys401Thr) c.950A>C (p.Lys317Thr) n.1223A>C c.995A>C (p.Lys332Thr) c.1244A>C (p.Lys415Thr) c.1058A>C (p.Lys353Thr) c.896A>C (p.Lys299Thr) c.1205A>C (p.Lys402Thr) c.1040A>C (p.Lys347Thr) c.1289A>C (p.Lys430Thr) c.1103A>C (p.Lys368Thr) n.1220A>C | |
13 | g.113118809A>G | CA388786706 | F7 | c.1136A>G (p.Lys379Arg) c.1202A>G (p.Lys401Arg) c.950A>G (p.Lys317Arg) n.1223A>G c.995A>G (p.Lys332Arg) c.1244A>G (p.Lys415Arg) c.1058A>G (p.Lys353Arg) c.896A>G (p.Lys299Arg) c.1205A>G (p.Lys402Arg) c.1040A>G (p.Lys347Arg) c.1289A>G (p.Lys430Arg) c.1103A>G (p.Lys368Arg) n.1220A>G | |
13 | g.113118809A>T | CA388786709 | F7 | c.1136A>T (p.Lys379Met) c.1202A>T (p.Lys401Met) c.950A>T (p.Lys317Met) n.1223A>T c.995A>T (p.Lys332Met) c.1244A>T (p.Lys415Met) c.1058A>T (p.Lys353Met) c.896A>T (p.Lys299Met) c.1205A>T (p.Lys402Met) c.1040A>T (p.Lys347Met) c.1289A>T (p.Lys430Met) c.1103A>T (p.Lys368Met) n.1220A>T | |
13 | g.113118812_113118824dup | CA2739291817 | F7 | c.1139_1151dup (p.Pro385GlyfsTer?) c.1205_1217dup (p.Pro407GlyfsTer?) c.953_965dup (p.Pro323GlyfsTer?) n.1226_1238dup c.998_1010dup (p.Pro338GlyfsTer?) c.1247_1259dup (p.Pro421GlyfsTer?) c.1061_1073dup (p.Pro359GlyfsTer?) c.899_911dup (p.Pro305GlyfsTer?) c.1208_1220dup (p.Pro408GlyfsTer?) c.1043_1055dup (p.Pro353GlyfsTer?) c.1292_1304dup (p.Pro436GlyfsTer?) c.1106_1118dup (p.Pro374GlyfsTer?) n.1223_1235dup | |
13 | g.113118810G>A | CA485021189 | F7 | c.1137G>A (p.Lys379=) c.1203G>A (p.Lys401=) c.951G>A (p.Lys317=) n.1224G>A c.996G>A (p.Lys332=) c.1245G>A (p.Lys415=) c.1059G>A (p.Lys353=) c.897G>A (p.Lys299=) c.1206G>A (p.Lys402=) c.1041G>A (p.Lys347=) c.1290G>A (p.Lys430=) c.1104G>A (p.Lys368=) n.1221G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118810G>C | CA388786710 | F7 | c.1137G>C (p.Lys379Asn) c.1203G>C (p.Lys401Asn) c.951G>C (p.Lys317Asn) n.1224G>C c.996G>C (p.Lys332Asn) c.1245G>C (p.Lys415Asn) c.1059G>C (p.Lys353Asn) c.897G>C (p.Lys299Asn) c.1206G>C (p.Lys402Asn) c.1041G>C (p.Lys347Asn) c.1290G>C (p.Lys430Asn) c.1104G>C (p.Lys368Asn) n.1221G>C | |
13 | g.113118810G= | CA2120142716 | F7 | c.1137G= (p.Lys379=) c.1203G= (p.Lys401=) c.951G= (p.Lys317=) n.1224G= c.996G= (p.Lys332=) c.1245G= (p.Lys415=) c.1059G= (p.Lys353=) c.897G= (p.Lys299=) c.1206G= (p.Lys402=) c.1041G= (p.Lys347=) c.1290G= (p.Lys430=) c.1104G= (p.Lys368=) n.1221G= | |
13 | g.113118810G>T | CA388786712 | F7 | c.1137G>T (p.Lys379Asn) c.1203G>T (p.Lys401Asn) c.951G>T (p.Lys317Asn) n.1224G>T c.996G>T (p.Lys332Asn) c.1245G>T (p.Lys415Asn) c.1059G>T (p.Lys353Asn) c.897G>T (p.Lys299Asn) c.1206G>T (p.Lys402Asn) c.1041G>T (p.Lys347Asn) c.1290G>T (p.Lys430Asn) c.1104G>T (p.Lys368Asn) n.1221G>T | |
13 | g.113118811G>A | CA388786716 | F7 | c.1138G>A (p.Gly380Arg) c.1204G>A (p.Gly402Arg) c.952G>A (p.Gly318Arg) n.1225G>A c.997G>A (p.Gly333Arg) c.1246G>A (p.Gly416Arg) c.1060G>A (p.Gly354Arg) c.898G>A (p.Gly300Arg) c.1207G>A (p.Gly403Arg) c.1042G>A (p.Gly348Arg) c.1291G>A (p.Gly431Arg) c.1105G>A (p.Gly369Arg) n.1222G>A | dbSNP |
13 | g.113118811G>C | CA388786718 | F7 | c.1138G>C (p.Gly380Arg) c.1204G>C (p.Gly402Arg) c.952G>C (p.Gly318Arg) n.1225G>C c.997G>C (p.Gly333Arg) c.1246G>C (p.Gly416Arg) c.1060G>C (p.Gly354Arg) c.898G>C (p.Gly300Arg) c.1207G>C (p.Gly403Arg) c.1042G>C (p.Gly348Arg) c.1291G>C (p.Gly431Arg) c.1105G>C (p.Gly369Arg) n.1222G>C | |
13 | g.113118811G>T | CA388786714 | F7 | c.1138G>T (p.Gly380Trp) c.1204G>T (p.Gly402Trp) c.952G>T (p.Gly318Trp) n.1225G>T c.997G>T (p.Gly333Trp) c.1246G>T (p.Gly416Trp) c.1060G>T (p.Gly354Trp) c.898G>T (p.Gly300Trp) c.1207G>T (p.Gly403Trp) c.1042G>T (p.Gly348Trp) c.1291G>T (p.Gly431Trp) c.1105G>T (p.Gly369Trp) n.1222G>T | |
13 | g.113118812G>A | CA388786720 | F7 | c.1139G>A (p.Gly380Glu) c.1205G>A (p.Gly402Glu) c.953G>A (p.Gly318Glu) n.1226G>A c.998G>A (p.Gly333Glu) c.1247G>A (p.Gly416Glu) c.1061G>A (p.Gly354Glu) c.899G>A (p.Gly300Glu) c.1208G>A (p.Gly403Glu) c.1043G>A (p.Gly348Glu) c.1292G>A (p.Gly431Glu) c.1106G>A (p.Gly369Glu) n.1223G>A | |
13 | g.113118812G>C | CA388786721 | F7 | c.1139G>C (p.Gly380Ala) c.1205G>C (p.Gly402Ala) c.953G>C (p.Gly318Ala) n.1226G>C c.998G>C (p.Gly333Ala) c.1247G>C (p.Gly416Ala) c.1061G>C (p.Gly354Ala) c.899G>C (p.Gly300Ala) c.1208G>C (p.Gly403Ala) c.1043G>C (p.Gly348Ala) c.1292G>C (p.Gly431Ala) c.1106G>C (p.Gly369Ala) n.1223G>C | |
13 | g.113118812G>T | CA388786723 | F7 | c.1139G>T (p.Gly380Val) c.1205G>T (p.Gly402Val) c.953G>T (p.Gly318Val) n.1226G>T c.998G>T (p.Gly333Val) c.1247G>T (p.Gly416Val) c.1061G>T (p.Gly354Val) c.899G>T (p.Gly300Val) c.1208G>T (p.Gly403Val) c.1043G>T (p.Gly348Val) c.1292G>T (p.Gly431Val) c.1106G>T (p.Gly369Val) n.1223G>T | |
13 | g.113118813G>A | CA485021190 | F7 | c.1140G>A (p.Gly380=) c.1206G>A (p.Gly402=) c.954G>A (p.Gly318=) n.1227G>A c.999G>A (p.Gly333=) c.1248G>A (p.Gly416=) c.1062G>A (p.Gly354=) c.900G>A (p.Gly300=) c.1209G>A (p.Gly403=) c.1044G>A (p.Gly348=) c.1293G>A (p.Gly431=) c.1107G>A (p.Gly369=) n.1224G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.113118813G>C | CA485021191 | F7 | c.1140G>C (p.Gly380=) c.1206G>C (p.Gly402=) c.954G>C (p.Gly318=) n.1227G>C c.999G>C (p.Gly333=) c.1248G>C (p.Gly416=) c.1062G>C (p.Gly354=) c.900G>C (p.Gly300=) c.1209G>C (p.Gly403=) c.1044G>C (p.Gly348=) c.1293G>C (p.Gly431=) c.1107G>C (p.Gly369=) n.1224G>C | |
13 | g.113118813G= | CA2120142718 | F7 | c.1140G= (p.Gly380=) c.1206G= (p.Gly402=) c.954G= (p.Gly318=) n.1227G= c.999G= (p.Gly333=) c.1248G= (p.Gly416=) c.1062G= (p.Gly354=) c.900G= (p.Gly300=) c.1209G= (p.Gly403=) c.1044G= (p.Gly348=) c.1293G= (p.Gly431=) c.1107G= (p.Gly369=) n.1224G= | |
13 | g.113118813G>T | CA485021192 | F7 | c.1140G>T (p.Gly380=) c.1206G>T (p.Gly402=) c.954G>T (p.Gly318=) n.1227G>T c.999G>T (p.Gly333=) c.1248G>T (p.Gly416=) c.1062G>T (p.Gly354=) c.900G>T (p.Gly300=) c.1209G>T (p.Gly403=) c.1044G>T (p.Gly348=) c.1293G>T (p.Gly431=) c.1107G>T (p.Gly369=) n.1224G>T | |
13 | g.113118814G>A | CA388786725 | F7 | c.1141G>A (p.Asp381Asn) c.1207G>A (p.Asp403Asn) c.955G>A (p.Asp319Asn) n.1228G>A c.1000G>A (p.Asp334Asn) c.1249G>A (p.Asp417Asn) c.1063G>A (p.Asp355Asn) c.901G>A (p.Asp301Asn) c.1210G>A (p.Asp404Asn) c.1045G>A (p.Asp349Asn) c.1294G>A (p.Asp432Asn) c.1108G>A (p.Asp370Asn) n.1225G>A | dbSNP gnomAD v4 |
13 | g.113118814G>C | CA388786727 | F7 | c.1141G>C (p.Asp381His) c.1207G>C (p.Asp403His) c.955G>C (p.Asp319His) n.1228G>C c.1000G>C (p.Asp334His) c.1249G>C (p.Asp417His) c.1063G>C (p.Asp355His) c.901G>C (p.Asp301His) c.1210G>C (p.Asp404His) c.1045G>C (p.Asp349His) c.1294G>C (p.Asp432His) c.1108G>C (p.Asp370His) n.1225G>C | |
13 | g.113118814G= | CA2120142720 | F7 | c.1141G= (p.Asp381=) c.1207G= (p.Asp403=) c.955G= (p.Asp319=) n.1228G= c.1000G= (p.Asp334=) c.1249G= (p.Asp417=) c.1063G= (p.Asp355=) c.901G= (p.Asp301=) c.1210G= (p.Asp404=) c.1045G= (p.Asp349=) c.1294G= (p.Asp432=) c.1108G= (p.Asp370=) n.1225G= | |
13 | g.113118814G>T | CA256461823 | F7 | c.1141G>T (p.Asp381Tyr) c.1207G>T (p.Asp403Tyr) c.955G>T (p.Asp319Tyr) n.1228G>T c.1000G>T (p.Asp334Tyr) c.1249G>T (p.Asp417Tyr) c.1063G>T (p.Asp355Tyr) c.901G>T (p.Asp301Tyr) c.1210G>T (p.Asp404Tyr) c.1045G>T (p.Asp349Tyr) c.1294G>T (p.Asp432Tyr) c.1108G>T (p.Asp370Tyr) n.1225G>T | ClinVar dbSNP gnomAD v2 |
13 | g.113118815A>C | CA388786734 | F7 | c.1142A>C (p.Asp381Ala) c.1208A>C (p.Asp403Ala) c.956A>C (p.Asp319Ala) n.1229A>C c.1001A>C (p.Asp334Ala) c.1250A>C (p.Asp417Ala) c.1064A>C (p.Asp355Ala) c.902A>C (p.Asp301Ala) c.1211A>C (p.Asp404Ala) c.1046A>C (p.Asp349Ala) c.1295A>C (p.Asp432Ala) c.1109A>C (p.Asp370Ala) n.1226A>C | |
13 | g.113118815A>G | CA388786730 | F7 | c.1142A>G (p.Asp381Gly) c.1208A>G (p.Asp403Gly) c.956A>G (p.Asp319Gly) n.1229A>G c.1001A>G (p.Asp334Gly) c.1250A>G (p.Asp417Gly) c.1064A>G (p.Asp355Gly) c.902A>G (p.Asp301Gly) c.1211A>G (p.Asp404Gly) c.1046A>G (p.Asp349Gly) c.1295A>G (p.Asp432Gly) c.1109A>G (p.Asp370Gly) n.1226A>G | |
13 | g.113118815A>T | CA388786732 | F7 | c.1142A>T (p.Asp381Val) c.1208A>T (p.Asp403Val) c.956A>T (p.Asp319Val) n.1229A>T c.1001A>T (p.Asp334Val) c.1250A>T (p.Asp417Val) c.1064A>T (p.Asp355Val) c.902A>T (p.Asp301Val) c.1211A>T (p.Asp404Val) c.1046A>T (p.Asp349Val) c.1295A>T (p.Asp432Val) c.1109A>T (p.Asp370Val) n.1226A>T | |
13 | g.113118816C>A | CA388786736 | F7 | c.1143C>A (p.Asp381Glu) c.1209C>A (p.Asp403Glu) c.957C>A (p.Asp319Glu) n.1230C>A c.1002C>A (p.Asp334Glu) c.1251C>A (p.Asp417Glu) c.1065C>A (p.Asp355Glu) c.903C>A (p.Asp301Glu) c.1212C>A (p.Asp404Glu) c.1047C>A (p.Asp349Glu) c.1296C>A (p.Asp432Glu) c.1110C>A (p.Asp370Glu) n.1227C>A | |
13 | g.113118816C>G | CA388786738 | F7 | c.1143C>G (p.Asp381Glu) c.1209C>G (p.Asp403Glu) c.957C>G (p.Asp319Glu) n.1230C>G c.1002C>G (p.Asp334Glu) c.1251C>G (p.Asp417Glu) c.1065C>G (p.Asp355Glu) c.903C>G (p.Asp301Glu) c.1212C>G (p.Asp404Glu) c.1047C>G (p.Asp349Glu) c.1296C>G (p.Asp432Glu) c.1110C>G (p.Asp370Glu) n.1227C>G | |
13 | g.113118816C>T | CA485021193 | F7 | c.1143C>T (p.Asp381=) c.1209C>T (p.Asp403=) c.957C>T (p.Asp319=) n.1230C>T c.1002C>T (p.Asp334=) c.1251C>T (p.Asp417=) c.1065C>T (p.Asp355=) c.903C>T (p.Asp301=) c.1212C>T (p.Asp404=) c.1047C>T (p.Asp349=) c.1296C>T (p.Asp432=) c.1110C>T (p.Asp370=) n.1227C>T | |
13 | g.113118817A>C | CA388786740 | F7 | c.1144A>C (p.Ser382Arg) c.1210A>C (p.Ser404Arg) c.958A>C (p.Ser320Arg) n.1231A>C c.1003A>C (p.Ser335Arg) c.1252A>C (p.Ser418Arg) c.1066A>C (p.Ser356Arg) c.904A>C (p.Ser302Arg) c.1213A>C (p.Ser405Arg) c.1048A>C (p.Ser350Arg) c.1297A>C (p.Ser433Arg) c.1111A>C (p.Ser371Arg) n.1228A>C | |
13 | g.113118817A>G | CA388786743 | F7 | c.1144A>G (p.Ser382Gly) c.1210A>G (p.Ser404Gly) c.958A>G (p.Ser320Gly) n.1231A>G c.1003A>G (p.Ser335Gly) c.1252A>G (p.Ser418Gly) c.1066A>G (p.Ser356Gly) c.904A>G (p.Ser302Gly) c.1213A>G (p.Ser405Gly) c.1048A>G (p.Ser350Gly) c.1297A>G (p.Ser433Gly) c.1111A>G (p.Ser371Gly) n.1228A>G | |
13 | g.113118817A>T | CA388786745 | F7 | c.1144A>T (p.Ser382Cys) c.1210A>T (p.Ser404Cys) c.958A>T (p.Ser320Cys) n.1231A>T c.1003A>T (p.Ser335Cys) c.1252A>T (p.Ser418Cys) c.1066A>T (p.Ser356Cys) c.904A>T (p.Ser302Cys) c.1213A>T (p.Ser405Cys) c.1048A>T (p.Ser350Cys) c.1297A>T (p.Ser433Cys) c.1111A>T (p.Ser371Cys) n.1228A>T | |
13 | g.113118818G>A | CA388786747 | F7 | c.1145G>A (p.Ser382Asn) c.1211G>A (p.Ser404Asn) c.959G>A (p.Ser320Asn) n.1232G>A c.1004G>A (p.Ser335Asn) c.1253G>A (p.Ser418Asn) c.1067G>A (p.Ser356Asn) c.905G>A (p.Ser302Asn) c.1214G>A (p.Ser405Asn) c.1049G>A (p.Ser350Asn) c.1298G>A (p.Ser433Asn) c.1112G>A (p.Ser371Asn) n.1229G>A | ClinVar gnomAD v4 |
13 | g.113118818G>C | CA388786751 | F7 | c.1145G>C (p.Ser382Thr) c.1211G>C (p.Ser404Thr) c.959G>C (p.Ser320Thr) n.1232G>C c.1004G>C (p.Ser335Thr) c.1253G>C (p.Ser418Thr) c.1067G>C (p.Ser356Thr) c.905G>C (p.Ser302Thr) c.1214G>C (p.Ser405Thr) c.1049G>C (p.Ser350Thr) c.1298G>C (p.Ser433Thr) c.1112G>C (p.Ser371Thr) n.1229G>C | |
13 | g.113118818G>T | CA388786749 | F7 | c.1145G>T (p.Ser382Ile) c.1211G>T (p.Ser404Ile) c.959G>T (p.Ser320Ile) n.1232G>T c.1004G>T (p.Ser335Ile) c.1253G>T (p.Ser418Ile) c.1067G>T (p.Ser356Ile) c.905G>T (p.Ser302Ile) c.1214G>T (p.Ser405Ile) c.1049G>T (p.Ser350Ile) c.1298G>T (p.Ser433Ile) c.1112G>T (p.Ser371Ile) n.1229G>T | dbSNP |
13 | g.113118819T>A | CA388786753 | F7 | c.1146T>A (p.Ser382Arg) c.1212T>A (p.Ser404Arg) c.960T>A (p.Ser320Arg) n.1233T>A c.1005T>A (p.Ser335Arg) c.1254T>A (p.Ser418Arg) c.1068T>A (p.Ser356Arg) c.906T>A (p.Ser302Arg) c.1215T>A (p.Ser405Arg) c.1050T>A (p.Ser350Arg) c.1299T>A (p.Ser433Arg) c.1113T>A (p.Ser371Arg) n.1230T>A | |
13 | g.113118819T>C | CA485021194 | F7 | c.1146T>C (p.Ser382=) c.1212T>C (p.Ser404=) c.960T>C (p.Ser320=) n.1233T>C c.1005T>C (p.Ser335=) c.1254T>C (p.Ser418=) c.1068T>C (p.Ser356=) c.906T>C (p.Ser302=) c.1215T>C (p.Ser405=) c.1050T>C (p.Ser350=) c.1299T>C (p.Ser433=) c.1113T>C (p.Ser371=) n.1230T>C | dbSNP gnomAD v4 |
13 | g.113118819T>G | CA388786755 | F7 | c.1146T>G (p.Ser382Arg) c.1212T>G (p.Ser404Arg) c.960T>G (p.Ser320Arg) n.1233T>G c.1005T>G (p.Ser335Arg) c.1254T>G (p.Ser418Arg) c.1068T>G (p.Ser356Arg) c.906T>G (p.Ser302Arg) c.1215T>G (p.Ser405Arg) c.1050T>G (p.Ser350Arg) c.1299T>G (p.Ser433Arg) c.1113T>G (p.Ser371Arg) n.1230T>G | |
13 | g.113118819T= | CA2120142723 | F7 | c.1146T= (p.Ser382=) c.1212T= (p.Ser404=) c.960T= (p.Ser320=) n.1233T= c.1005T= (p.Ser335=) c.1254T= (p.Ser418=) c.1068T= (p.Ser356=) c.906T= (p.Ser302=) c.1215T= (p.Ser405=) c.1050T= (p.Ser350=) c.1299T= (p.Ser433=) c.1113T= (p.Ser371=) n.1230T= | |
13 | g.113118820G>A | CA388786758 | F7 | c.1147G>A (p.Gly383Arg) c.1213G>A (p.Gly405Arg) c.961G>A (p.Gly321Arg) n.1234G>A c.1006G>A (p.Gly336Arg) c.1255G>A (p.Gly419Arg) c.1069G>A (p.Gly357Arg) c.907G>A (p.Gly303Arg) c.1216G>A (p.Gly406Arg) c.1051G>A (p.Gly351Arg) c.1300G>A (p.Gly434Arg) c.1114G>A (p.Gly372Arg) n.1231G>A | |
13 | g.113118820G>C | CA388786760 | F7 | c.1147G>C (p.Gly383Arg) c.1213G>C (p.Gly405Arg) c.961G>C (p.Gly321Arg) n.1234G>C c.1006G>C (p.Gly336Arg) c.1255G>C (p.Gly419Arg) c.1069G>C (p.Gly357Arg) c.907G>C (p.Gly303Arg) c.1216G>C (p.Gly406Arg) c.1051G>C (p.Gly351Arg) c.1300G>C (p.Gly434Arg) c.1114G>C (p.Gly372Arg) n.1231G>C | |
13 | g.113118820G>T | CA388786762 | F7 | c.1147G>T (p.Gly383Ter) c.1213G>T (p.Gly405Ter) c.961G>T (p.Gly321Ter) n.1234G>T c.1006G>T (p.Gly336Ter) c.1255G>T (p.Gly419Ter) c.1069G>T (p.Gly357Ter) c.907G>T (p.Gly303Ter) c.1216G>T (p.Gly406Ter) c.1051G>T (p.Gly351Ter) c.1300G>T (p.Gly434Ter) c.1114G>T (p.Gly372Ter) n.1231G>T | |
13 | g.113118822_113118824del | CA2800652059 | F7 | c.1149_1151del (p.Gly384del) c.1215_1217del (p.Gly406del) c.963_965del (p.Gly322del) n.1236_1238del c.1008_1010del (p.Gly337del) c.1257_1259del (p.Gly420del) c.1071_1073del (p.Gly358del) c.909_911del (p.Gly304del) c.1218_1220del (p.Gly407del) c.1053_1055del (p.Gly352del) c.1302_1304del (p.Gly435del) c.1116_1118del (p.Gly373del) n.1233_1235del | |
13 | g.113118821G>A | CA388786764 | F7 | c.1148G>A (p.Gly383Glu) c.1214G>A (p.Gly405Glu) c.962G>A (p.Gly321Glu) n.1235G>A c.1007G>A (p.Gly336Glu) c.1256G>A (p.Gly419Glu) c.1070G>A (p.Gly357Glu) c.908G>A (p.Gly303Glu) c.1217G>A (p.Gly406Glu) c.1052G>A (p.Gly351Glu) c.1301G>A (p.Gly434Glu) c.1115G>A (p.Gly372Glu) n.1232G>A | |
13 | g.113118821G>C | CA388786766 | F7 | c.1148G>C (p.Gly383Ala) c.1214G>C (p.Gly405Ala) c.962G>C (p.Gly321Ala) n.1235G>C c.1007G>C (p.Gly336Ala) c.1256G>C (p.Gly419Ala) c.1070G>C (p.Gly357Ala) c.908G>C (p.Gly303Ala) c.1217G>C (p.Gly406Ala) c.1052G>C (p.Gly351Ala) c.1301G>C (p.Gly434Ala) c.1115G>C (p.Gly372Ala) n.1232G>C | |
13 | g.113118821G>T | CA388786768 | F7 | c.1148G>T (p.Gly383Val) c.1214G>T (p.Gly405Val) c.962G>T (p.Gly321Val) n.1235G>T c.1007G>T (p.Gly336Val) c.1256G>T (p.Gly419Val) c.1070G>T (p.Gly357Val) c.908G>T (p.Gly303Val) c.1217G>T (p.Gly406Val) c.1052G>T (p.Gly351Val) c.1301G>T (p.Gly434Val) c.1115G>T (p.Gly372Val) n.1232G>T | |
13 | g.113118822A>C | CA485021195 | F7 | c.1149A>C (p.Gly383=) c.1215A>C (p.Gly405=) c.963A>C (p.Gly321=) n.1236A>C c.1008A>C (p.Gly336=) c.1257A>C (p.Gly419=) c.1071A>C (p.Gly357=) c.909A>C (p.Gly303=) c.1218A>C (p.Gly406=) c.1053A>C (p.Gly351=) c.1302A>C (p.Gly434=) c.1116A>C (p.Gly372=) n.1233A>C | |
13 | g.113118822A>G | CA485021196 | F7 | c.1149A>G (p.Gly383=) c.1215A>G (p.Gly405=) c.963A>G (p.Gly321=) n.1236A>G c.1008A>G (p.Gly336=) c.1257A>G (p.Gly419=) c.1071A>G (p.Gly357=) c.909A>G (p.Gly303=) c.1218A>G (p.Gly406=) c.1053A>G (p.Gly351=) c.1302A>G (p.Gly434=) c.1116A>G (p.Gly372=) n.1233A>G | |
13 | g.113118822A>T | CA485021197 | F7 | c.1149A>T (p.Gly383=) c.1215A>T (p.Gly405=) c.963A>T (p.Gly321=) n.1236A>T c.1008A>T (p.Gly336=) c.1257A>T (p.Gly419=) c.1071A>T (p.Gly357=) c.909A>T (p.Gly303=) c.1218A>T (p.Gly406=) c.1053A>T (p.Gly351=) c.1302A>T (p.Gly434=) c.1116A>T (p.Gly372=) n.1233A>T | |
13 | g.113118823G>A | CA388786769 | F7 | c.1150G>A (p.Gly384Ser) c.1216G>A (p.Gly406Ser) c.964G>A (p.Gly322Ser) n.1237G>A c.1009G>A (p.Gly337Ser) c.1258G>A (p.Gly420Ser) c.1072G>A (p.Gly358Ser) c.910G>A (p.Gly304Ser) c.1219G>A (p.Gly407Ser) c.1054G>A (p.Gly352Ser) c.1303G>A (p.Gly435Ser) c.1117G>A (p.Gly373Ser) n.1234G>A | |
13 | g.113118823G>C | CA388786771 | F7 | c.1150G>C (p.Gly384Arg) c.1216G>C (p.Gly406Arg) c.964G>C (p.Gly322Arg) n.1237G>C c.1009G>C (p.Gly337Arg) c.1258G>C (p.Gly420Arg) c.1072G>C (p.Gly358Arg) c.910G>C (p.Gly304Arg) c.1219G>C (p.Gly407Arg) c.1054G>C (p.Gly352Arg) c.1303G>C (p.Gly435Arg) c.1117G>C (p.Gly373Arg) n.1234G>C | |
13 | g.113118823G>T | CA388786773 | F7 | c.1150G>T (p.Gly384Cys) c.1216G>T (p.Gly406Cys) c.964G>T (p.Gly322Cys) n.1237G>T c.1009G>T (p.Gly337Cys) c.1258G>T (p.Gly420Cys) c.1072G>T (p.Gly358Cys) c.910G>T (p.Gly304Cys) c.1219G>T (p.Gly407Cys) c.1054G>T (p.Gly352Cys) c.1303G>T (p.Gly435Cys) c.1117G>T (p.Gly373Cys) n.1234G>T | |
13 | g.113118824G>A | CA7060240 | F7 | c.1151G>A (p.Gly384Asp) c.1217G>A (p.Gly406Asp) c.965G>A (p.Gly322Asp) n.1238G>A c.1010G>A (p.Gly337Asp) c.1259G>A (p.Gly420Asp) c.1073G>A (p.Gly358Asp) c.911G>A (p.Gly304Asp) c.1220G>A (p.Gly407Asp) c.1055G>A (p.Gly352Asp) c.1304G>A (p.Gly435Asp) c.1118G>A (p.Gly373Asp) n.1235G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118824G>C | CA388786777 | F7 | c.1151G>C (p.Gly384Ala) c.1217G>C (p.Gly406Ala) c.965G>C (p.Gly322Ala) n.1238G>C c.1010G>C (p.Gly337Ala) c.1259G>C (p.Gly420Ala) c.1073G>C (p.Gly358Ala) c.911G>C (p.Gly304Ala) c.1220G>C (p.Gly407Ala) c.1055G>C (p.Gly352Ala) c.1304G>C (p.Gly435Ala) c.1118G>C (p.Gly373Ala) n.1235G>C | |
13 | g.113118824G= | CA2120142727 | F7 | c.1151G= (p.Gly384=) c.1217G= (p.Gly406=) c.965G= (p.Gly322=) n.1238G= c.1010G= (p.Gly337=) c.1259G= (p.Gly420=) c.1073G= (p.Gly358=) c.911G= (p.Gly304=) c.1220G= (p.Gly407=) c.1055G= (p.Gly352=) c.1304G= (p.Gly435=) c.1118G= (p.Gly373=) n.1235G= | |
13 | g.113118824G>T | CA388786775 | F7 | c.1151G>T (p.Gly384Val) c.1217G>T (p.Gly406Val) c.965G>T (p.Gly322Val) n.1238G>T c.1010G>T (p.Gly337Val) c.1259G>T (p.Gly420Val) c.1073G>T (p.Gly358Val) c.911G>T (p.Gly304Val) c.1220G>T (p.Gly407Val) c.1055G>T (p.Gly352Val) c.1304G>T (p.Gly435Val) c.1118G>T (p.Gly373Val) n.1235G>T | |
13 | g.113118825C>A | CA485021198 | F7 | c.1152C>A (p.Gly384=) c.1218C>A (p.Gly406=) c.966C>A (p.Gly322=) n.1239C>A c.1011C>A (p.Gly337=) c.1260C>A (p.Gly420=) c.1074C>A (p.Gly358=) c.912C>A (p.Gly304=) c.1221C>A (p.Gly407=) c.1056C>A (p.Gly352=) c.1305C>A (p.Gly435=) c.1119C>A (p.Gly373=) n.1236C>A | |
13 | g.113118825C>G | CA485021199 | F7 | c.1152C>G (p.Gly384=) c.1218C>G (p.Gly406=) c.966C>G (p.Gly322=) n.1239C>G c.1011C>G (p.Gly337=) c.1260C>G (p.Gly420=) c.1074C>G (p.Gly358=) c.912C>G (p.Gly304=) c.1221C>G (p.Gly407=) c.1056C>G (p.Gly352=) c.1305C>G (p.Gly435=) c.1119C>G (p.Gly373=) n.1236C>G | |
13 | g.113118825C>T | CA485021200 | F7 | c.1152C>T (p.Gly384=) c.1218C>T (p.Gly406=) c.966C>T (p.Gly322=) n.1239C>T c.1011C>T (p.Gly337=) c.1260C>T (p.Gly420=) c.1074C>T (p.Gly358=) c.912C>T (p.Gly304=) c.1221C>T (p.Gly407=) c.1056C>T (p.Gly352=) c.1305C>T (p.Gly435=) c.1119C>T (p.Gly373=) n.1236C>T | |
13 | g.113118826C>A | CA388786779 | F7 | c.1153C>A (p.Pro385Thr) c.1219C>A (p.Pro407Thr) c.967C>A (p.Pro323Thr) n.1240C>A c.1012C>A (p.Pro338Thr) c.1261C>A (p.Pro421Thr) c.1075C>A (p.Pro359Thr) c.913C>A (p.Pro305Thr) c.1222C>A (p.Pro408Thr) c.1057C>A (p.Pro353Thr) c.1306C>A (p.Pro436Thr) c.1120C>A (p.Pro374Thr) n.1237C>A | |
13 | g.113118826C>G | CA388786783 | F7 | c.1153C>G (p.Pro385Ala) c.1219C>G (p.Pro407Ala) c.967C>G (p.Pro323Ala) n.1240C>G c.1012C>G (p.Pro338Ala) c.1261C>G (p.Pro421Ala) c.1075C>G (p.Pro359Ala) c.913C>G (p.Pro305Ala) c.1222C>G (p.Pro408Ala) c.1057C>G (p.Pro353Ala) c.1306C>G (p.Pro436Ala) c.1120C>G (p.Pro374Ala) n.1237C>G | |
13 | g.113118826C>T | CA388786781 | F7 | c.1153C>T (p.Pro385Ser) c.1219C>T (p.Pro407Ser) c.967C>T (p.Pro323Ser) n.1240C>T c.1012C>T (p.Pro338Ser) c.1261C>T (p.Pro421Ser) c.1075C>T (p.Pro359Ser) c.913C>T (p.Pro305Ser) c.1222C>T (p.Pro408Ser) c.1057C>T (p.Pro353Ser) c.1306C>T (p.Pro436Ser) c.1120C>T (p.Pro374Ser) n.1237C>T | |
13 | g.113118827C>A | CA388786785 | F7 | c.1154C>A (p.Pro385Gln) c.1220C>A (p.Pro407Gln) c.968C>A (p.Pro323Gln) n.1241C>A c.1013C>A (p.Pro338Gln) c.1262C>A (p.Pro421Gln) c.1076C>A (p.Pro359Gln) c.914C>A (p.Pro305Gln) c.1223C>A (p.Pro408Gln) c.1058C>A (p.Pro353Gln) c.1307C>A (p.Pro436Gln) c.1121C>A (p.Pro374Gln) n.1238C>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118827C= | CA2120142731 | F7 | c.1154C= (p.Pro385=) c.1220C= (p.Pro407=) c.968C= (p.Pro323=) n.1241C= c.1013C= (p.Pro338=) c.1262C= (p.Pro421=) c.1076C= (p.Pro359=) c.914C= (p.Pro305=) c.1223C= (p.Pro408=) c.1058C= (p.Pro353=) c.1307C= (p.Pro436=) c.1121C= (p.Pro374=) n.1238C= | |
13 | g.113118827C>G | CA388786787 | F7 | c.1154C>G (p.Pro385Arg) c.1220C>G (p.Pro407Arg) c.968C>G (p.Pro323Arg) n.1241C>G c.1013C>G (p.Pro338Arg) c.1262C>G (p.Pro421Arg) c.1076C>G (p.Pro359Arg) c.914C>G (p.Pro305Arg) c.1223C>G (p.Pro408Arg) c.1058C>G (p.Pro353Arg) c.1307C>G (p.Pro436Arg) c.1121C>G (p.Pro374Arg) n.1238C>G | |
13 | g.113118827C>T | CA388786789 | F7 | c.1154C>T (p.Pro385Leu) c.1220C>T (p.Pro407Leu) c.968C>T (p.Pro323Leu) n.1241C>T c.1013C>T (p.Pro338Leu) c.1262C>T (p.Pro421Leu) c.1076C>T (p.Pro359Leu) c.914C>T (p.Pro305Leu) c.1223C>T (p.Pro408Leu) c.1058C>T (p.Pro353Leu) c.1307C>T (p.Pro436Leu) c.1121C>T (p.Pro374Leu) n.1238C>T | |
13 | g.113118828A= | CA2120142734 | F7 | c.1155A= (p.Pro385=) c.1221A= (p.Pro407=) c.969A= (p.Pro323=) n.1242A= c.1014A= (p.Pro338=) c.1263A= (p.Pro421=) c.1077A= (p.Pro359=) c.915A= (p.Pro305=) c.1224A= (p.Pro408=) c.1059A= (p.Pro353=) c.1308A= (p.Pro436=) c.1122A= (p.Pro374=) n.1239A= | |
13 | g.113118828A>C | CA485021201 | F7 | c.1155A>C (p.Pro385=) c.1221A>C (p.Pro407=) c.969A>C (p.Pro323=) n.1242A>C c.1014A>C (p.Pro338=) c.1263A>C (p.Pro421=) c.1077A>C (p.Pro359=) c.915A>C (p.Pro305=) c.1224A>C (p.Pro408=) c.1059A>C (p.Pro353=) c.1308A>C (p.Pro436=) c.1122A>C (p.Pro374=) n.1239A>C | dbSNP gnomAD v2 |
13 | g.113118828A>G | CA485021203 | F7 | c.1155A>G (p.Pro385=) c.1221A>G (p.Pro407=) c.969A>G (p.Pro323=) n.1242A>G c.1014A>G (p.Pro338=) c.1263A>G (p.Pro421=) c.1077A>G (p.Pro359=) c.915A>G (p.Pro305=) c.1224A>G (p.Pro408=) c.1059A>G (p.Pro353=) c.1308A>G (p.Pro436=) c.1122A>G (p.Pro374=) n.1239A>G | |
13 | g.113118828A>T | CA485021202 | F7 | c.1155A>T (p.Pro385=) c.1221A>T (p.Pro407=) c.969A>T (p.Pro323=) n.1242A>T c.1014A>T (p.Pro338=) c.1263A>T (p.Pro421=) c.1077A>T (p.Pro359=) c.915A>T (p.Pro305=) c.1224A>T (p.Pro408=) c.1059A>T (p.Pro353=) c.1308A>T (p.Pro436=) c.1122A>T (p.Pro374=) n.1239A>T | |
13 | g.113118829C>A | CA388786790 | F7 | c.1156C>A (p.His386Asn) c.1222C>A (p.His408Asn) c.970C>A (p.His324Asn) n.1243C>A c.1015C>A (p.His339Asn) c.1264C>A (p.His422Asn) c.1078C>A (p.His360Asn) c.916C>A (p.His306Asn) c.1225C>A (p.His409Asn) c.1060C>A (p.His354Asn) c.1309C>A (p.His437Asn) c.1123C>A (p.His375Asn) n.1240C>A | |
13 | g.113118829C>G | CA388786792 | F7 | c.1156C>G (p.His386Asp) c.1222C>G (p.His408Asp) c.970C>G (p.His324Asp) n.1243C>G c.1015C>G (p.His339Asp) c.1264C>G (p.His422Asp) c.1078C>G (p.His360Asp) c.916C>G (p.His306Asp) c.1225C>G (p.His409Asp) c.1060C>G (p.His354Asp) c.1309C>G (p.His437Asp) c.1123C>G (p.His375Asp) n.1240C>G | |
13 | g.113118829C>T | CA388786794 | F7 | c.1156C>T (p.His386Tyr) c.1222C>T (p.His408Tyr) c.970C>T (p.His324Tyr) n.1243C>T c.1015C>T (p.His339Tyr) c.1264C>T (p.His422Tyr) c.1078C>T (p.His360Tyr) c.916C>T (p.His306Tyr) c.1225C>T (p.His409Tyr) c.1060C>T (p.His354Tyr) c.1309C>T (p.His437Tyr) c.1123C>T (p.His375Tyr) n.1240C>T | gnomAD v4 COSMIC |
13 | g.113118830A= | CA2120142742 | F7 | c.1157A= (p.His386=) c.1223A= (p.His408=) c.971A= (p.His324=) n.1244A= c.1016A= (p.His339=) c.1265A= (p.His422=) c.1079A= (p.His360=) c.917A= (p.His306=) c.1226A= (p.His409=) c.1061A= (p.His354=) c.1310A= (p.His437=) c.1124A= (p.His375=) n.1241A= | |
13 | g.113118830A>C | CA388786796 | F7 | c.1157A>C (p.His386Pro) c.1223A>C (p.His408Pro) c.971A>C (p.His324Pro) n.1244A>C c.1016A>C (p.His339Pro) c.1265A>C (p.His422Pro) c.1079A>C (p.His360Pro) c.917A>C (p.His306Pro) c.1226A>C (p.His409Pro) c.1061A>C (p.His354Pro) c.1310A>C (p.His437Pro) c.1124A>C (p.His375Pro) n.1241A>C | |
13 | g.113118830A>G | CA388786799 | F7 | c.1157A>G (p.His386Arg) c.1223A>G (p.His408Arg) c.971A>G (p.His324Arg) n.1244A>G c.1016A>G (p.His339Arg) c.1265A>G (p.His422Arg) c.1079A>G (p.His360Arg) c.917A>G (p.His306Arg) c.1226A>G (p.His409Arg) c.1061A>G (p.His354Arg) c.1310A>G (p.His437Arg) c.1124A>G (p.His375Arg) n.1241A>G | dbSNP gnomAD v4 |
13 | g.113118830A>T | CA388786801 | F7 | c.1157A>T (p.His386Leu) c.1223A>T (p.His408Leu) c.971A>T (p.His324Leu) n.1244A>T c.1016A>T (p.His339Leu) c.1265A>T (p.His422Leu) c.1079A>T (p.His360Leu) c.917A>T (p.His306Leu) c.1226A>T (p.His409Leu) c.1061A>T (p.His354Leu) c.1310A>T (p.His437Leu) c.1124A>T (p.His375Leu) n.1241A>T | |
13 | g.113118830_113118831del | CA2623809295 | F7 | c.1157_1158del (p.His386ArgfsTer?) c.1223_1224del (p.His408ArgfsTer?) c.971_972del (p.His324ArgfsTer?) n.1244_1245del c.1016_1017del (p.His339ArgfsTer?) c.1265_1266del (p.His422ArgfsTer?) c.1079_1080del (p.His360ArgfsTer?) c.917_918del (p.His306ArgfsTer?) c.1226_1227del (p.His409ArgfsTer?) c.1061_1062del (p.His354ArgfsTer?) c.1310_1311del (p.His437ArgfsTer?) c.1124_1125del (p.His375ArgfsTer?) n.1241_1242del | gnomAD v4 |
13 | g.113118831T>A | CA388786802 | F7 | c.1158T>A (p.His386Gln) c.1224T>A (p.His408Gln) c.972T>A (p.His324Gln) n.1245T>A c.1017T>A (p.His339Gln) c.1266T>A (p.His422Gln) c.1080T>A (p.His360Gln) c.918T>A (p.His306Gln) c.1227T>A (p.His409Gln) c.1062T>A (p.His354Gln) c.1311T>A (p.His437Gln) c.1125T>A (p.His375Gln) n.1242T>A | gnomAD v4 |
13 | g.113118831T>C | CA485021204 | F7 | c.1158T>C (p.His386=) c.1224T>C (p.His408=) c.972T>C (p.His324=) n.1245T>C c.1017T>C (p.His339=) c.1266T>C (p.His422=) c.1080T>C (p.His360=) c.918T>C (p.His306=) c.1227T>C (p.His409=) c.1062T>C (p.His354=) c.1311T>C (p.His437=) c.1125T>C (p.His375=) n.1242T>C | |
13 | g.113118831T>G | CA121870 | F7 | c.1158T>G (p.His386Gln) c.1224T>G (p.His408Gln) c.972T>G (p.His324Gln) n.1245T>G c.1017T>G (p.His339Gln) c.1266T>G (p.His422Gln) c.1080T>G (p.His360Gln) c.918T>G (p.His306Gln) c.1227T>G (p.His409Gln) c.1062T>G (p.His354Gln) c.1311T>G (p.His437Gln) c.1125T>G (p.His375Gln) n.1242T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118831T= | CA2120142748 | F7 | c.1158T= (p.His386=) c.1224T= (p.His408=) c.972T= (p.His324=) n.1245T= c.1017T= (p.His339=) c.1266T= (p.His422=) c.1080T= (p.His360=) c.918T= (p.His306=) c.1227T= (p.His409=) c.1062T= (p.His354=) c.1311T= (p.His437=) c.1125T= (p.His375=) n.1242T= | |
13 | g.113118832G>A | CA388786809 | F7 | c.1159G>A (p.Ala387Thr) c.1225G>A (p.Ala409Thr) c.973G>A (p.Ala325Thr) n.1246G>A c.1018G>A (p.Ala340Thr) c.1267G>A (p.Ala423Thr) c.1081G>A (p.Ala361Thr) c.919G>A (p.Ala307Thr) c.1228G>A (p.Ala410Thr) c.1063G>A (p.Ala355Thr) c.1312G>A (p.Ala438Thr) c.1126G>A (p.Ala376Thr) n.1243G>A | |
13 | g.113118832G>C | CA388786807 | F7 | c.1159G>C (p.Ala387Pro) c.1225G>C (p.Ala409Pro) c.973G>C (p.Ala325Pro) n.1246G>C c.1018G>C (p.Ala340Pro) c.1267G>C (p.Ala423Pro) c.1081G>C (p.Ala361Pro) c.919G>C (p.Ala307Pro) c.1228G>C (p.Ala410Pro) c.1063G>C (p.Ala355Pro) c.1312G>C (p.Ala438Pro) c.1126G>C (p.Ala376Pro) n.1243G>C | |
13 | g.113118832G>T | CA388786805 | F7 | c.1159G>T (p.Ala387Ser) c.1225G>T (p.Ala409Ser) c.973G>T (p.Ala325Ser) n.1246G>T c.1018G>T (p.Ala340Ser) c.1267G>T (p.Ala423Ser) c.1081G>T (p.Ala361Ser) c.919G>T (p.Ala307Ser) c.1228G>T (p.Ala410Ser) c.1063G>T (p.Ala355Ser) c.1312G>T (p.Ala438Ser) c.1126G>T (p.Ala376Ser) n.1243G>T | |
13 | g.113118833C>A | CA388786811 | F7 | c.1160C>A (p.Ala387Asp) c.1226C>A (p.Ala409Asp) c.974C>A (p.Ala325Asp) n.1247C>A c.1019C>A (p.Ala340Asp) c.1268C>A (p.Ala423Asp) c.1082C>A (p.Ala361Asp) c.920C>A (p.Ala307Asp) c.1229C>A (p.Ala410Asp) c.1064C>A (p.Ala355Asp) c.1313C>A (p.Ala438Asp) c.1127C>A (p.Ala376Asp) n.1244C>A | |
13 | g.113118833C= | CA2120142752 | F7 | c.1160C= (p.Ala387=) c.1226C= (p.Ala409=) c.974C= (p.Ala325=) n.1247C= c.1019C= (p.Ala340=) c.1268C= (p.Ala423=) c.1082C= (p.Ala361=) c.920C= (p.Ala307=) c.1229C= (p.Ala410=) c.1064C= (p.Ala355=) c.1313C= (p.Ala438=) c.1127C= (p.Ala376=) n.1244C= | |
13 | g.113118833C>G | CA388786813 | F7 | c.1160C>G (p.Ala387Gly) c.1226C>G (p.Ala409Gly) c.974C>G (p.Ala325Gly) n.1247C>G c.1019C>G (p.Ala340Gly) c.1268C>G (p.Ala423Gly) c.1082C>G (p.Ala361Gly) c.920C>G (p.Ala307Gly) c.1229C>G (p.Ala410Gly) c.1064C>G (p.Ala355Gly) c.1313C>G (p.Ala438Gly) c.1127C>G (p.Ala376Gly) n.1244C>G | |
13 | g.113118833C>T | CA388786814 | F7 | c.1160C>T (p.Ala387Val) c.1226C>T (p.Ala409Val) c.974C>T (p.Ala325Val) n.1247C>T c.1019C>T (p.Ala340Val) c.1268C>T (p.Ala423Val) c.1082C>T (p.Ala361Val) c.920C>T (p.Ala307Val) c.1229C>T (p.Ala410Val) c.1064C>T (p.Ala355Val) c.1313C>T (p.Ala438Val) c.1127C>T (p.Ala376Val) n.1244C>T | dbSNP gnomAD v2 |
13 | g.113118834C>A | CA485021207 | F7 | c.1161C>A (p.Ala387=) c.1227C>A (p.Ala409=) c.975C>A (p.Ala325=) n.1248C>A c.1020C>A (p.Ala340=) c.1269C>A (p.Ala423=) c.1083C>A (p.Ala361=) c.921C>A (p.Ala307=) c.1230C>A (p.Ala410=) c.1065C>A (p.Ala355=) c.1314C>A (p.Ala438=) c.1128C>A (p.Ala376=) n.1245C>A | |
13 | g.113118834C>G | CA485021206 | F7 | c.1161C>G (p.Ala387=) c.1227C>G (p.Ala409=) c.975C>G (p.Ala325=) n.1248C>G c.1020C>G (p.Ala340=) c.1269C>G (p.Ala423=) c.1083C>G (p.Ala361=) c.921C>G (p.Ala307=) c.1230C>G (p.Ala410=) c.1065C>G (p.Ala355=) c.1314C>G (p.Ala438=) c.1128C>G (p.Ala376=) n.1245C>G | |
13 | g.113118834C>T | CA485021205 | F7 | c.1161C>T (p.Ala387=) c.1227C>T (p.Ala409=) c.975C>T (p.Ala325=) n.1248C>T c.1020C>T (p.Ala340=) c.1269C>T (p.Ala423=) c.1083C>T (p.Ala361=) c.921C>T (p.Ala307=) c.1230C>T (p.Ala410=) c.1065C>T (p.Ala355=) c.1314C>T (p.Ala438=) c.1128C>T (p.Ala376=) n.1245C>T | |
13 | g.113118835A= | CA2120142757 | F7 | c.1162A= (p.Thr388=) c.1228A= (p.Thr410=) c.976A= (p.Thr326=) n.1249A= c.1021A= (p.Thr341=) c.1270A= (p.Thr424=) c.1084A= (p.Thr362=) c.922A= (p.Thr308=) c.1231A= (p.Thr411=) c.1066A= (p.Thr356=) c.1315A= (p.Thr439=) c.1129A= (p.Thr377=) n.1246A= | |
13 | g.113118835A>C | CA388786817 | F7 | c.1162A>C (p.Thr388Pro) c.1228A>C (p.Thr410Pro) c.976A>C (p.Thr326Pro) n.1249A>C c.1021A>C (p.Thr341Pro) c.1270A>C (p.Thr424Pro) c.1084A>C (p.Thr362Pro) c.922A>C (p.Thr308Pro) c.1231A>C (p.Thr411Pro) c.1066A>C (p.Thr356Pro) c.1315A>C (p.Thr439Pro) c.1129A>C (p.Thr377Pro) n.1246A>C | gnomAD v4 |
13 | g.113118835A>G | CA388786818 | F7 | c.1162A>G (p.Thr388Ala) c.1228A>G (p.Thr410Ala) c.976A>G (p.Thr326Ala) n.1249A>G c.1021A>G (p.Thr341Ala) c.1270A>G (p.Thr424Ala) c.1084A>G (p.Thr362Ala) c.922A>G (p.Thr308Ala) c.1231A>G (p.Thr411Ala) c.1066A>G (p.Thr356Ala) c.1315A>G (p.Thr439Ala) c.1129A>G (p.Thr377Ala) n.1246A>G | dbSNP gnomAD v4 |
13 | g.113118835A>T | CA388786820 | F7 | c.1162A>T (p.Thr388Ser) c.1228A>T (p.Thr410Ser) c.976A>T (p.Thr326Ser) n.1249A>T c.1021A>T (p.Thr341Ser) c.1270A>T (p.Thr424Ser) c.1084A>T (p.Thr362Ser) c.922A>T (p.Thr308Ser) c.1231A>T (p.Thr411Ser) c.1066A>T (p.Thr356Ser) c.1315A>T (p.Thr439Ser) c.1129A>T (p.Thr377Ser) n.1246A>T | |
13 | g.113118835_113118836delinsAC | CA2120142756 | F7 | c.1162_1163delinsAC (p.Thr388=) c.1228_1229delinsAC (p.Thr410=) c.976_977delinsAC (p.Thr326=) n.1249_1250delinsAC c.1021_1022delinsAC (p.Thr341=) c.1270_1271delinsAC (p.Thr424=) c.1084_1085delinsAC (p.Thr362=) c.922_923delinsAC (p.Thr308=) c.1231_1232delinsAC (p.Thr411=) c.1066_1067delinsAC (p.Thr356=) c.1315_1316delinsAC (p.Thr439=) c.1129_1130delinsAC (p.Thr377=) n.1246_1247delinsAC | |
13 | g.113118836C>A | CA388786823 | F7 | c.1163C>A (p.Thr388Asn) c.1229C>A (p.Thr410Asn) c.977C>A (p.Thr326Asn) n.1250C>A c.1022C>A (p.Thr341Asn) c.1271C>A (p.Thr424Asn) c.1085C>A (p.Thr362Asn) c.923C>A (p.Thr308Asn) c.1232C>A (p.Thr411Asn) c.1067C>A (p.Thr356Asn) c.1316C>A (p.Thr439Asn) c.1130C>A (p.Thr377Asn) n.1247C>A | |
13 | g.113118836C>G | CA388786825 | F7 | c.1163C>G (p.Thr388Ser) c.1229C>G (p.Thr410Ser) c.977C>G (p.Thr326Ser) n.1250C>G c.1022C>G (p.Thr341Ser) c.1271C>G (p.Thr424Ser) c.1085C>G (p.Thr362Ser) c.923C>G (p.Thr308Ser) c.1232C>G (p.Thr411Ser) c.1067C>G (p.Thr356Ser) c.1316C>G (p.Thr439Ser) c.1130C>G (p.Thr377Ser) n.1247C>G | |
13 | g.113118836C>T | CA388786827 | F7 | c.1163C>T (p.Thr388Ile) c.1229C>T (p.Thr410Ile) c.977C>T (p.Thr326Ile) n.1250C>T c.1022C>T (p.Thr341Ile) c.1271C>T (p.Thr424Ile) c.1085C>T (p.Thr362Ile) c.923C>T (p.Thr308Ile) c.1232C>T (p.Thr411Ile) c.1067C>T (p.Thr356Ile) c.1316C>T (p.Thr439Ile) c.1130C>T (p.Thr377Ile) n.1247C>T | |
13 | g.113118838dup | CA2120142765 | F7 | c.1165dup (p.His389ProfsTer?) c.1231dup (p.His411ProfsTer?) c.979dup (p.His327ProfsTer?) n.1252dup c.1024dup (p.His342ProfsTer?) c.1273dup (p.His425ProfsTer?) c.1087dup (p.His363ProfsTer?) c.925dup (p.His309ProfsTer?) c.1234dup (p.His412ProfsTer?) c.1069dup (p.His357ProfsTer?) c.1318dup (p.His440ProfsTer?) c.1132dup (p.His378ProfsTer?) n.1249dup | dbSNP |
13 | g.113118838del | CA612868381 | F7 | c.1165del (p.His389ThrfsTer8) c.1231del (p.His411ThrfsTer8) c.979del (p.His327ThrfsTer8) n.1252del c.1024del (p.His342ThrfsTer8) c.1273del (p.His425ThrfsTer8) c.1087del (p.His363ThrfsTer8) c.925del (p.His309ThrfsTer8) c.1234del (p.His412ThrfsTer8) c.1069del (p.His357ThrfsTer8) c.1318del (p.His440ThrfsTer8) c.1132del (p.His378ThrfsTer8) n.1249del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118837C>A | CA485021210 | F7 | c.1164C>A (p.Thr388=) c.1230C>A (p.Thr410=) c.978C>A (p.Thr326=) n.1251C>A c.1023C>A (p.Thr341=) c.1272C>A (p.Thr424=) c.1086C>A (p.Thr362=) c.924C>A (p.Thr308=) c.1233C>A (p.Thr411=) c.1068C>A (p.Thr356=) c.1317C>A (p.Thr439=) c.1131C>A (p.Thr377=) n.1248C>A | |
13 | g.113118837C>G | CA485021209 | F7 | c.1164C>G (p.Thr388=) c.1230C>G (p.Thr410=) c.978C>G (p.Thr326=) n.1251C>G c.1023C>G (p.Thr341=) c.1272C>G (p.Thr424=) c.1086C>G (p.Thr362=) c.924C>G (p.Thr308=) c.1233C>G (p.Thr411=) c.1068C>G (p.Thr356=) c.1317C>G (p.Thr439=) c.1131C>G (p.Thr377=) n.1248C>G | |
13 | g.113118837C>T | CA485021208 | F7 | c.1164C>T (p.Thr388=) c.1230C>T (p.Thr410=) c.978C>T (p.Thr326=) n.1251C>T c.1023C>T (p.Thr341=) c.1272C>T (p.Thr424=) c.1086C>T (p.Thr362=) c.924C>T (p.Thr308=) c.1233C>T (p.Thr411=) c.1068C>T (p.Thr356=) c.1317C>T (p.Thr439=) c.1131C>T (p.Thr377=) n.1248C>T | |
13 | g.113118838C>A | CA388786829 | F7 | c.1165C>A (p.His389Asn) c.1231C>A (p.His411Asn) c.979C>A (p.His327Asn) n.1252C>A c.1024C>A (p.His342Asn) c.1273C>A (p.His425Asn) c.1087C>A (p.His363Asn) c.925C>A (p.His309Asn) c.1234C>A (p.His412Asn) c.1069C>A (p.His357Asn) c.1318C>A (p.His440Asn) c.1132C>A (p.His378Asn) n.1249C>A | |
13 | g.113118838C>G | CA388786830 | F7 | c.1165C>G (p.His389Asp) c.1231C>G (p.His411Asp) c.979C>G (p.His327Asp) n.1252C>G c.1024C>G (p.His342Asp) c.1273C>G (p.His425Asp) c.1087C>G (p.His363Asp) c.925C>G (p.His309Asp) c.1234C>G (p.His412Asp) c.1069C>G (p.His357Asp) c.1318C>G (p.His440Asp) c.1132C>G (p.His378Asp) n.1249C>G | |
13 | g.113118838C>T | CA388786832 | F7 | c.1165C>T (p.His389Tyr) c.1231C>T (p.His411Tyr) c.979C>T (p.His327Tyr) n.1252C>T c.1024C>T (p.His342Tyr) c.1273C>T (p.His425Tyr) c.1087C>T (p.His363Tyr) c.925C>T (p.His309Tyr) c.1234C>T (p.His412Tyr) c.1069C>T (p.His357Tyr) c.1318C>T (p.His440Tyr) c.1132C>T (p.His378Tyr) n.1249C>T | |
13 | g.113118839A= | CA2120142771 | F7 | c.1166A= (p.His389=) c.1232A= (p.His411=) c.980A= (p.His327=) n.1253A= c.1025A= (p.His342=) c.1274A= (p.His425=) c.1088A= (p.His363=) c.926A= (p.His309=) c.1235A= (p.His412=) c.1070A= (p.His357=) c.1319A= (p.His440=) c.1133A= (p.His378=) n.1250A= | |
13 | g.113118839A>C | CA388786838 | F7 | c.1166A>C (p.His389Pro) c.1232A>C (p.His411Pro) c.980A>C (p.His327Pro) n.1253A>C c.1025A>C (p.His342Pro) c.1274A>C (p.His425Pro) c.1088A>C (p.His363Pro) c.926A>C (p.His309Pro) c.1235A>C (p.His412Pro) c.1070A>C (p.His357Pro) c.1319A>C (p.His440Pro) c.1133A>C (p.His378Pro) n.1250A>C | |
13 | g.113118839A>G | CA388786836 | F7 | c.1166A>G (p.His389Arg) c.1232A>G (p.His411Arg) c.980A>G (p.His327Arg) n.1253A>G c.1025A>G (p.His342Arg) c.1274A>G (p.His425Arg) c.1088A>G (p.His363Arg) c.926A>G (p.His309Arg) c.1235A>G (p.His412Arg) c.1070A>G (p.His357Arg) c.1319A>G (p.His440Arg) c.1133A>G (p.His378Arg) n.1250A>G | dbSNP |
13 | g.113118839A>T | CA388786834 | F7 | c.1166A>T (p.His389Leu) c.1232A>T (p.His411Leu) c.980A>T (p.His327Leu) n.1253A>T c.1025A>T (p.His342Leu) c.1274A>T (p.His425Leu) c.1088A>T (p.His363Leu) c.926A>T (p.His309Leu) c.1235A>T (p.His412Leu) c.1070A>T (p.His357Leu) c.1319A>T (p.His440Leu) c.1133A>T (p.His378Leu) n.1250A>T | |
13 | g.113118840C>A | CA388786842 | F7 | c.1167C>A (p.His389Gln) c.1233C>A (p.His411Gln) c.981C>A (p.His327Gln) n.1254C>A c.1026C>A (p.His342Gln) c.1275C>A (p.His425Gln) c.1089C>A (p.His363Gln) c.927C>A (p.His309Gln) c.1236C>A (p.His412Gln) c.1071C>A (p.His357Gln) c.1320C>A (p.His440Gln) c.1134C>A (p.His378Gln) n.1251C>A | |
13 | g.113118840C= | CA2120142779 | F7 | c.1167C= (p.His389=) c.1233C= (p.His411=) c.981C= (p.His327=) n.1254C= c.1026C= (p.His342=) c.1275C= (p.His425=) c.1089C= (p.His363=) c.927C= (p.His309=) c.1236C= (p.His412=) c.1071C= (p.His357=) c.1320C= (p.His440=) c.1134C= (p.His378=) n.1251C= | |
13 | g.113118840C>G | CA7060241 | F7 | c.1167C>G (p.His389Gln) c.1233C>G (p.His411Gln) c.981C>G (p.His327Gln) n.1254C>G c.1026C>G (p.His342Gln) c.1275C>G (p.His425Gln) c.1089C>G (p.His363Gln) c.927C>G (p.His309Gln) c.1236C>G (p.His412Gln) c.1071C>G (p.His357Gln) c.1320C>G (p.His440Gln) c.1134C>G (p.His378Gln) n.1251C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118840C>T | CA7060242 | F7 | c.1167C>T (p.His389=) c.1233C>T (p.His411=) c.981C>T (p.His327=) n.1254C>T c.1026C>T (p.His342=) c.1275C>T (p.His425=) c.1089C>T (p.His363=) c.927C>T (p.His309=) c.1236C>T (p.His412=) c.1071C>T (p.His357=) c.1320C>T (p.His440=) c.1134C>T (p.His378=) n.1251C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118841T>A | CA388786844 | F7 | c.1168T>A (p.Tyr390Asn) c.1234T>A (p.Tyr412Asn) c.982T>A (p.Tyr328Asn) n.1255T>A c.1027T>A (p.Tyr343Asn) c.1276T>A (p.Tyr426Asn) c.1090T>A (p.Tyr364Asn) c.928T>A (p.Tyr310Asn) c.1237T>A (p.Tyr413Asn) c.1072T>A (p.Tyr358Asn) c.1321T>A (p.Tyr441Asn) c.1135T>A (p.Tyr379Asn) n.1252T>A | |
13 | g.113118841T>C | CA388786846 | F7 | c.1168T>C (p.Tyr390His) c.1234T>C (p.Tyr412His) c.982T>C (p.Tyr328His) n.1255T>C c.1027T>C (p.Tyr343His) c.1276T>C (p.Tyr426His) c.1090T>C (p.Tyr364His) c.928T>C (p.Tyr310His) c.1237T>C (p.Tyr413His) c.1072T>C (p.Tyr358His) c.1321T>C (p.Tyr441His) c.1135T>C (p.Tyr379His) n.1252T>C | |
13 | g.113118841T>G | CA388786847 | F7 | c.1168T>G (p.Tyr390Asp) c.1234T>G (p.Tyr412Asp) c.982T>G (p.Tyr328Asp) n.1255T>G c.1027T>G (p.Tyr343Asp) c.1276T>G (p.Tyr426Asp) c.1090T>G (p.Tyr364Asp) c.928T>G (p.Tyr310Asp) c.1237T>G (p.Tyr413Asp) c.1072T>G (p.Tyr358Asp) c.1321T>G (p.Tyr441Asp) c.1135T>G (p.Tyr379Asp) n.1252T>G |