Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625416C>A | CA412169173 | ARSA | c.1259G>T (p.Ser420Ile) c.1001G>T (p.Ser334Ile) c.127G>T c.1156G>T (p.Ala386Ser) c.1373G>T (p.Ser458Ile) | gnomAD v4 |
22 | g.50625416C>G | CA412169176 | ARSA | c.1259G>C (p.Ser420Thr) c.1001G>C (p.Ser334Thr) c.127G>C c.1156G>C (p.Ala386Pro) c.1373G>C (p.Ser458Thr) | |
22 | g.50625416C>T | CA412169178 | ARSA | c.1259G>A (p.Ser420Asn) c.1001G>A (p.Ser334Asn) c.127G>A c.1156G>A (p.Ala386Thr) c.1373G>A (p.Ser458Asn) | |
22 | g.50625417T>A | CA412169180 | ARSA | c.1258A>T (p.Ser420Cys) c.1000A>T (p.Ser334Cys) c.126A>T c.1155A>T (p.Pro385=) c.1372A>T (p.Ser458Cys) | |
22 | g.50625417T>C | CA412169183 | ARSA | c.1258A>G (p.Ser420Gly) c.1000A>G (p.Ser334Gly) c.126A>G c.1155A>G (p.Pro385=) c.1372A>G (p.Ser458Gly) | gnomAD v4 |
22 | g.50625417T>G | CA10324759 | ARSA | c.1258A>C (p.Ser420Arg) c.1000A>C (p.Ser334Arg) c.126A>C c.1155A>C (p.Pro385=) c.1372A>C (p.Ser458Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625417T= | CA2410958472 | ARSA | c.1258A= (p.Ser420=) c.1000A= (p.Ser334=) c.126A= c.1155A= (p.Pro385=) c.1372A= (p.Ser458=) | |
22 | g.50625418G>A | CA325531227 | ARSA | c.1257C>T (p.Ser419=) c.999C>T (p.Ser333=) c.125C>T c.1154C>T (p.Pro385Leu) c.1371C>T (p.Ser457=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625418G>C | CA515391240 | ARSA | c.1257C>G (p.Ser419=) c.999C>G (p.Ser333=) c.125C>G c.1154C>G (p.Pro385Arg) c.1371C>G (p.Ser457=) | |
22 | g.50625418G= | CA2410958473 | ARSA | c.1257C= (p.Ser419=) c.999C= (p.Ser333=) c.125C= c.1154C= (p.Pro385=) c.1371C= (p.Ser457=) | |
22 | g.50625418G>T | CA515391238 | ARSA | c.1257C>A (p.Ser419=) c.999C>A (p.Ser333=) c.125C>A c.1154C>A (p.Pro385Gln) c.1371C>A (p.Ser457=) | gnomAD v4 |
22 | g.50625419G>A | CA412169198 | ARSA | c.1256C>T (p.Ser419Phe) c.998C>T (p.Ser333Phe) c.124C>T c.1153C>T (p.Pro385Ser) c.1370C>T (p.Ser457Phe) | |
22 | g.50625419G>C | CA412169193 | ARSA | c.1256C>G (p.Ser419Cys) c.998C>G (p.Ser333Cys) c.124C>G c.1153C>G (p.Pro385Ala) c.1370C>G (p.Ser457Cys) | |
22 | g.50625419G= | CA2410958474 | ARSA | c.1256C= (p.Ser419=) c.998C= (p.Ser333=) c.124C= c.1153C= (p.Pro385=) c.1370C= (p.Ser457=) | |
22 | g.50625419G>T | CA325531228 | ARSA | c.1256C>A (p.Ser419Tyr) c.998C>A (p.Ser333Tyr) c.124C>A c.1153C>A (p.Pro385Thr) c.1370C>A (p.Ser457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625420A>C | CA412169203 | ARSA | c.1255T>G (p.Ser419Ala) c.997T>G (p.Ser333Ala) c.123T>G c.1152T>G (p.Pro384=) c.1369T>G (p.Ser457Ala) | |
22 | g.50625420A>G | CA412169213 | ARSA | c.1255T>C (p.Ser419Pro) c.997T>C (p.Ser333Pro) c.123T>C c.1152T>C (p.Pro384=) c.1369T>C (p.Ser457Pro) | gnomAD v4 |
22 | g.50625420A>T | CA412169215 | ARSA | c.1255T>A (p.Ser419Thr) c.997T>A (p.Ser333Thr) c.123T>A c.1152T>A (p.Pro384=) c.1369T>A (p.Ser457Thr) | |
22 | g.50625421G>A | CA515391248 | ARSA | c.1254C>T (p.Ala418=) c.996C>T (p.Ala332=) c.122C>T c.1151C>T (p.Pro384Leu) c.1368C>T (p.Ala456=) | ClinVar gnomAD v4 |
22 | g.50625421G>C | CA515391250 | ARSA | c.1254C>G (p.Ala418=) c.996C>G (p.Ala332=) c.122C>G c.1151C>G (p.Pro384Arg) c.1368C>G (p.Ala456=) | gnomAD v4 |
22 | g.50625421G>T | CA515391249 | ARSA | c.1254C>A (p.Ala418=) c.996C>A (p.Ala332=) c.122C>A c.1151C>A (p.Pro384His) c.1368C>A (p.Ala456=) | |
22 | g.50625422G>A | CA412169219 | ARSA | c.1253C>T (p.Ala418Val) c.995C>T (p.Ala332Val) c.121C>T c.1150C>T (p.Pro384Ser) c.1367C>T (p.Ala456Val) | COSMIC |
22 | g.50625422G>C | CA412169220 | ARSA | c.1253C>G (p.Ala418Gly) c.995C>G (p.Ala332Gly) c.121C>G c.1150C>G (p.Pro384Ala) c.1367C>G (p.Ala456Gly) | gnomAD v4 |
22 | g.50625422G>T | CA412169223 | ARSA | c.1253C>A (p.Ala418Asp) c.995C>A (p.Ala332Asp) c.121C>A c.1150C>A (p.Pro384Thr) c.1367C>A (p.Ala456Asp) | gnomAD v4 |
22 | g.50625423C>A | CA412169225 | ARSA | c.1252G>T (p.Ala418Ser) c.994G>T (p.Ala332Ser) c.120G>T c.1149G>T (p.Thr383=) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
22 | g.50625423C= | CA2410958475 | ARSA | c.1252G= (p.Ala418=) c.994G= (p.Ala332=) c.120G= c.1149G= (p.Thr383=) c.1366G= (p.Ala456=) | |
22 | g.50625423C>G | CA412169230 | ARSA | c.1252G>C (p.Ala418Pro) c.994G>C (p.Ala332Pro) c.120G>C c.1149G>C (p.Thr383=) c.1366G>C (p.Ala456Pro) | |
22 | g.50625423C>T | CA10324760 | ARSA | c.1252G>A (p.Ala418Thr) c.994G>A (p.Ala332Thr) c.120G>A c.1149G>A (p.Thr383=) c.1366G>A (p.Ala456Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625424G>A | CA10324761 | ARSA | c.1251C>T (p.His417=) c.993C>T (p.His331=) c.119C>T c.1148C>T (p.Thr383Met) c.1365C>T (p.His455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625424G>C | CA412169233 | ARSA | c.1251C>G (p.His417Gln) c.993C>G (p.His331Gln) c.119C>G c.1148C>G (p.Thr383Arg) c.1365C>G (p.His455Gln) | |
22 | g.50625424G= | CA2410958476 | ARSA | c.1251C= (p.His417=) c.993C= (p.His331=) c.119C= c.1148C= (p.Thr383=) c.1365C= (p.His455=) | |
22 | g.50625424G>T | CA412169236 | ARSA | c.1251C>A (p.His417Gln) c.993C>A (p.His331Gln) c.119C>A c.1148C>A (p.Thr383Lys) c.1365C>A (p.His455Gln) | |
22 | g.50625425T>A | CA412169253 | ARSA | c.1250A>T (p.His417Leu) c.992A>T (p.His331Leu) c.118A>T c.1147A>T (p.Thr383Ser) c.1364A>T (p.His455Leu) | |
22 | g.50625425T>C | CA412169251 | ARSA | c.1250A>G (p.His417Arg) c.992A>G (p.His331Arg) c.118A>G c.1147A>G (p.Thr383Ala) c.1364A>G (p.His455Arg) | |
22 | g.50625425T>G | CA412169246 | ARSA | c.1250A>C (p.His417Pro) c.992A>C (p.His331Pro) c.118A>C c.1147A>C (p.Thr383Pro) c.1364A>C (p.His455Pro) | |
22 | g.50625426G>A | CA412169261 | ARSA | c.1249C>T (p.His417Tyr) c.991C>T (p.His331Tyr) c.117C>T c.1146C>T (p.Ala382=) c.1363C>T (p.His455Tyr) | |
22 | g.50625426G>C | CA412169270 | ARSA | c.1249C>G (p.His417Asp) c.991C>G (p.His331Asp) c.117C>G c.1146C>G (p.Ala382=) c.1363C>G (p.His455Asp) | |
22 | g.50625426G>T | CA412169275 | ARSA | c.1249C>A (p.His417Asn) c.991C>A (p.His331Asn) c.117C>A c.1146C>A (p.Ala382=) c.1363C>A (p.His455Asn) | gnomAD v4 |
22 | g.50625427G>A | CA515391261 | ARSA | c.1248C>T (p.Cys416=) c.990C>T (p.Cys330=) c.116C>T c.1145C>T (p.Ala382Val) c.1362C>T (p.Cys454=) | gnomAD v4 |
22 | g.50625427G>C | CA412169281 | ARSA | c.1248C>G (p.Cys416Trp) c.990C>G (p.Cys330Trp) c.116C>G c.1145C>G (p.Ala382Gly) c.1362C>G (p.Cys454Trp) | |
22 | g.50625427G>T | CA412169284 | ARSA | c.1248C>A (p.Cys416Ter) c.990C>A (p.Cys330Ter) c.116C>A c.1145C>A (p.Ala382Asp) c.1362C>A (p.Cys454Ter) | |
22 | g.50625428C>A | CA412169297 | ARSA | c.1247G>T (p.Cys416Phe) c.989G>T (p.Cys330Phe) c.115G>T c.1144G>T (p.Ala382Ser) c.1361G>T (p.Cys454Phe) | gnomAD v4 |
22 | g.50625428C>G | CA412169295 | ARSA | c.1247G>C (p.Cys416Ser) c.989G>C (p.Cys330Ser) c.115G>C c.1144G>C (p.Ala382Pro) c.1361G>C (p.Cys454Ser) | |
22 | g.50625428C>T | CA412169290 | ARSA | c.1247G>A (p.Cys416Tyr) c.989G>A (p.Cys330Tyr) c.115G>A c.1144G>A (p.Ala382Thr) c.1361G>A (p.Cys454Tyr) | gnomAD v4 |
22 | g.50625429A= | CA2410958477 | ARSA | c.1246T= (p.Cys416=) c.988T= (p.Cys330=) c.114T= c.1143T= (p.Pro381=) c.1360T= (p.Cys454=) | |
22 | g.50625429A>C | CA412169298 | ARSA | c.1246T>G (p.Cys416Gly) c.988T>G (p.Cys330Gly) c.114T>G c.1143T>G (p.Pro381=) c.1360T>G (p.Cys454Gly) | dbSNP |
22 | g.50625429A>G | CA412169299 | ARSA | c.1246T>C (p.Cys416Arg) c.988T>C (p.Cys330Arg) c.114T>C c.1143T>C (p.Pro381=) c.1360T>C (p.Cys454Arg) | |
22 | g.50625429A>T | CA412169304 | ARSA | c.1246T>A (p.Cys416Ser) c.988T>A (p.Cys330Ser) c.114T>A c.1143T>A (p.Pro381=) c.1360T>A (p.Cys454Ser) | |
22 | g.50625430G>A | CA515391270 | ARSA | c.1245C>T (p.Ala415=) c.987C>T (p.Ala329=) c.113C>T c.1142C>T (p.Pro381Leu) c.1359C>T (p.Ala453=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625430G>C | CA515391272 | ARSA | c.1245C>G (p.Ala415=) c.987C>G (p.Ala329=) c.113C>G c.1142C>G (p.Pro381Arg) c.1359C>G (p.Ala453=) | |
22 | g.50625430G= | CA2410958478 | ARSA | c.1245C= (p.Ala415=) c.987C= (p.Ala329=) c.113C= c.1142C= (p.Pro381=) c.1359C= (p.Ala453=) | |
22 | g.50625430G>T | CA515391274 | ARSA | c.1245C>A (p.Ala415=) c.987C>A (p.Ala329=) c.113C>A c.1142C>A (p.Pro381His) c.1359C>A (p.Ala453=) | |
22 | g.50625431G>A | CA412169308 | ARSA | c.1244C>T (p.Ala415Val) c.986C>T (p.Ala329Val) c.112C>T c.1141C>T (p.Pro381Ser) c.1358C>T (p.Ala453Val) | gnomAD v4 |
22 | g.50625431G>C | CA412169309 | ARSA | c.1244C>G (p.Ala415Gly) c.986C>G (p.Ala329Gly) c.112C>G c.1141C>G (p.Pro381Ala) c.1358C>G (p.Ala453Gly) | |
22 | g.50625431G>T | CA412169310 | ARSA | c.1244C>A (p.Ala415Asp) c.986C>A (p.Ala329Asp) c.112C>A c.1141C>A (p.Pro381Thr) c.1358C>A (p.Ala453Asp) | |
22 | g.50625432C>A | CA412169314 | ARSA | c.1243G>T (p.Ala415Ser) c.985G>T (p.Ala329Ser) c.111G>T c.1140G>T (p.Leu380=) c.1357G>T (p.Ala453Ser) | |
22 | g.50625432C>G | CA412169324 | ARSA | c.1243G>C (p.Ala415Pro) c.985G>C (p.Ala329Pro) c.111G>C c.1140G>C (p.Leu380=) c.1357G>C (p.Ala453Pro) | |
22 | g.50625432C>T | CA412169318 | ARSA | c.1243G>A (p.Ala415Thr) c.985G>A (p.Ala329Thr) c.111G>A c.1140G>A (p.Leu380=) c.1357G>A (p.Ala453Thr) | |
22 | g.50625433A>C | CA515391276 | ARSA | c.1242T>G (p.Pro414=) c.984T>G (p.Pro328=) c.110T>G c.1139T>G (p.Leu380Arg) c.1356T>G (p.Pro452=) | |
22 | g.50625433A>G | CA515391278 | ARSA | c.1242T>C (p.Pro414=) c.984T>C (p.Pro328=) c.110T>C c.1139T>C (p.Leu380Pro) c.1356T>C (p.Pro452=) | |
22 | g.50625433A>T | CA515391279 | ARSA | c.1242T>A (p.Pro414=) c.984T>A (p.Pro328=) c.110T>A c.1139T>A (p.Leu380Gln) c.1356T>A (p.Pro452=) | |
22 | g.50625434G>A | CA412169331 | ARSA | c.1241C>T (p.Pro414Leu) c.983C>T (p.Pro328Leu) c.109C>T c.1138C>T (p.Leu380=) c.1355C>T (p.Pro452Leu) | gnomAD v4 |
22 | g.50625434G>C | CA412169336 | ARSA | c.1241C>G (p.Pro414Arg) c.983C>G (p.Pro328Arg) c.109C>G c.1138C>G (p.Leu380Val) c.1355C>G (p.Pro452Arg) | |
22 | g.50625434G>T | CA412169339 | ARSA | c.1241C>A (p.Pro414His) c.983C>A (p.Pro328His) c.109C>A c.1138C>A (p.Leu380Met) c.1355C>A (p.Pro452His) | |
22 | g.50625436del | CA515391280 | ARSA | c.1241del (p.Pro414LeufsTer9) c.983del (p.Pro328LeufsTer9) c.109del c.1138del (p.Leu380CysfsTer12) c.1355del (p.Pro452LeufsTer9) | |
22 | g.50625435G>A | CA412169344 | ARSA | c.1240C>T (p.Pro414Ser) c.982C>T (p.Pro328Ser) c.108C>T c.1137C>T (p.Thr379=) c.1354C>T (p.Pro452Ser) | gnomAD v4 |
22 | g.50625435G>C | CA412169345 | ARSA | c.1240C>G (p.Pro414Ala) c.982C>G (p.Pro328Ala) c.108C>G c.1137C>G (p.Thr379=) c.1354C>G (p.Pro452Ala) | |
22 | g.50625435G= | CA2410958479 | ARSA | c.1240C= (p.Pro414=) c.982C= (p.Pro328=) c.108C= c.1137C= (p.Thr379=) c.1354C= (p.Pro452=) | |
22 | g.50625435G>T | CA412169346 | ARSA | c.1240C>A (p.Pro414Thr) c.982C>A (p.Pro328Thr) c.108C>A c.1137C>A (p.Thr379=) c.1354C>A (p.Pro452Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625438_50625447del | CA2657590979 | ARSA | c.1231_1240del (p.Thr411LeufsTer9) c.973_982del (p.Thr325LeufsTer9) c.99_108del c.1128_1137del (p.Leu377CysfsTer12) c.1345_1354del (p.Thr449LeufsTer9) | gnomAD v4 |
22 | g.50625436G>A | CA515391286 | ARSA | c.1239C>T (p.Asp413=) c.981C>T (p.Asp327=) c.107C>T c.1136C>T (p.Thr379Ile) c.1353C>T (p.Asp451=) | |
22 | g.50625436G>C | CA412169349 | ARSA | c.1239C>G (p.Asp413Glu) c.981C>G (p.Asp327Glu) c.107C>G c.1136C>G (p.Thr379Ser) c.1353C>G (p.Asp451Glu) | |
22 | g.50625436G>T | CA412169351 | ARSA | c.1239C>A (p.Asp413Glu) c.981C>A (p.Asp327Glu) c.107C>A c.1136C>A (p.Thr379Asn) c.1353C>A (p.Asp451Glu) | |
22 | g.50625437T>A | CA412169357 | ARSA | c.1238A>T (p.Asp413Val) c.980A>T (p.Asp327Val) c.106A>T c.1135A>T (p.Thr379Ser) c.1352A>T (p.Asp451Val) | |
22 | g.50625437T>C | CA412169360 | ARSA | c.1238A>G (p.Asp413Gly) c.980A>G (p.Asp327Gly) c.106A>G c.1135A>G (p.Thr379Ala) c.1352A>G (p.Asp451Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625437T>G | CA412169364 | ARSA | c.1238A>C (p.Asp413Ala) c.980A>C (p.Asp327Ala) c.106A>C c.1135A>C (p.Thr379Pro) c.1352A>C (p.Asp451Ala) | dbSNP |
22 | g.50625437T= | CA2410958480 | ARSA | c.1238A= (p.Asp413=) c.980A= (p.Asp327=) c.106A= c.1135A= (p.Thr379=) c.1352A= (p.Asp451=) | |
22 | g.50625438C>A | CA412169365 | ARSA | c.1237G>T (p.Asp413Tyr) c.979G>T (p.Asp327Tyr) c.105G>T c.1134G>T (p.Gln378His) c.1351G>T (p.Asp451Tyr) | gnomAD v4 |
22 | g.50625438C>G | CA412169369 | ARSA | c.1237G>C (p.Asp413His) c.979G>C (p.Asp327His) c.105G>C c.1134G>C (p.Gln378His) c.1351G>C (p.Asp451His) | |
22 | g.50625438C>T | CA412169366 | ARSA | c.1237G>A (p.Asp413Asn) c.979G>A (p.Asp327Asn) c.105G>A c.1134G>A (p.Gln378=) c.1351G>A (p.Asp451Asn) | |
22 | g.50625439T>A | CA515391294 | ARSA | c.1236A>T (p.Ala412=) c.978A>T (p.Ala326=) c.104A>T c.1133A>T (p.Gln378Leu) c.1350A>T (p.Ala450=) | |
22 | g.50625439T>C | CA515391295 | ARSA | c.1236A>G (p.Ala412=) c.978A>G (p.Ala326=) c.104A>G c.1133A>G (p.Gln378Arg) c.1350A>G (p.Ala450=) | |
22 | g.50625439T>G | CA515391296 | ARSA | c.1236A>C (p.Ala412=) c.978A>C (p.Ala326=) c.104A>C c.1133A>C (p.Gln378Pro) c.1350A>C (p.Ala450=) | |
22 | g.50625440G>A | CA412169373 | ARSA | c.1235C>T (p.Ala412Val) c.977C>T (p.Ala326Val) c.103C>T c.1132C>T (p.Gln378Ter) c.1349C>T (p.Ala450Val) | dbSNP gnomAD v4 |
22 | g.50625440G>C | CA412169388 | ARSA | c.1235C>G (p.Ala412Gly) c.977C>G (p.Ala326Gly) c.103C>G c.1132C>G (p.Gln378Glu) c.1349C>G (p.Ala450Gly) | |
22 | g.50625440G= | CA2410958481 | ARSA | c.1235C= (p.Ala412=) c.977C= (p.Ala326=) c.103C= c.1132C= (p.Gln378=) c.1349C= (p.Ala450=) | |
22 | g.50625440G>T | CA412169384 | ARSA | c.1235C>A (p.Ala412Glu) c.977C>A (p.Ala326Glu) c.103C>A c.1132C>A (p.Gln378Lys) c.1349C>A (p.Ala450Glu) | |
22 | g.50625441C>A | CA412169398 | ARSA | c.1234G>T (p.Ala412Ser) c.976G>T (p.Ala326Ser) c.102G>T c.1131G>T (p.Leu377=) c.1348G>T (p.Ala450Ser) | |
22 | g.50625441C>G | CA412169404 | ARSA | c.1234G>C (p.Ala412Pro) c.976G>C (p.Ala326Pro) c.102G>C c.1131G>C (p.Leu377=) c.1348G>C (p.Ala450Pro) | |
22 | g.50625441C>T | CA412169402 | ARSA | c.1234G>A (p.Ala412Thr) c.976G>A (p.Ala326Thr) c.102G>A c.1131G>A (p.Leu377=) c.1348G>A (p.Ala450Thr) | |
22 | g.50625442A>C | CA515391306 | ARSA | c.1233T>G (p.Thr411=) c.975T>G (p.Thr325=) c.101T>G c.1130T>G (p.Leu377Arg) c.1347T>G (p.Thr449=) | |
22 | g.50625442A>G | CA515391307 | ARSA | c.1233T>C (p.Thr411=) c.975T>C (p.Thr325=) c.101T>C c.1130T>C (p.Leu377Pro) c.1347T>C (p.Thr449=) | gnomAD v4 |
22 | g.50625442A>T | CA515391309 | ARSA | c.1233T>A (p.Thr411=) c.975T>A (p.Thr325=) c.101T>A c.1130T>A (p.Leu377Gln) c.1347T>A (p.Thr449=) | |
22 | g.50625442_50625453del | CA913088702 | ARSA | c.1222_1233del (p.Ser408_Thr411del) c.964_975del (p.Ser322_Thr325del) c.90_101del c.1119_1130del (p.Val374_Leu377del) c.1336_1347del (p.Ser446_Thr449del) | |
22 | g.50625442_50625453delinsAGTGGTATCACT | CA2410958482 | ARSA | c.1222_1233delinsAGTGATACCACT (p.Ser408=) c.964_975delinsAGTGATACCACT (p.Ser322=) c.90_101delinsAGTGATACCACT c.1119_1130delinsAGTGATACCACT (p.Thr373=) c.1336_1347delinsAGTGATACCACT (p.Ser446=) | |
22 | g.50625443G>A | CA115999 | ARSA | c.1232C>T (p.Thr411Ile) c.974C>T (p.Thr325Ile) c.100C>T c.1129C>T (p.Leu377=) c.1346C>T (p.Thr449Ile) | ClinVar dbSNP gnomAD v4 |
22 | g.50625443G>C | CA412169420 | ARSA | c.1232C>G (p.Thr411Ser) c.974C>G (p.Thr325Ser) c.100C>G c.1129C>G (p.Leu377Val) c.1346C>G (p.Thr449Ser) | |
22 | g.50625443G= | CA2410958483 | ARSA | c.1232C= (p.Thr411=) c.974C= (p.Thr325=) c.100C= c.1129C= (p.Leu377=) c.1346C= (p.Thr449=) | |
22 | g.50625443G>T | CA412169418 | ARSA | c.1232C>A (p.Thr411Asn) c.974C>A (p.Thr325Asn) c.100C>A c.1129C>A (p.Leu377Met) c.1346C>A (p.Thr449Asn) | gnomAD v4 |
22 | g.50625443_50625452delinsGTGGTATCAC | CA2410958484 | ARSA | c.1223_1232delinsGTGATACCAC (p.Ser408=) c.965_974delinsGTGATACCAC (p.Ser322=) c.91_100delinsGTGATACCAC c.1120_1129delinsGTGATACCAC (p.Val374=) c.1337_1346delinsGTGATACCAC (p.Ser446=) | |
22 | g.50625447_50625457del | CA658824683 | ARSA | c.1222_1232del (p.Ser408CysfsTer15) c.964_974del (p.Ser322CysfsTer15) c.90_100del c.1119_1129del (p.Val374AlafsTer?) c.1336_1346del (p.Ser446CysfsTer15) | ClinVar dbSNP |
22 | g.50625444T>A | CA412169424 | ARSA | c.1231A>T (p.Thr411Ser) c.973A>T (p.Thr325Ser) c.99A>T c.1128A>T (p.Pro376=) c.1345A>T (p.Thr449Ser) | |
22 | g.50625444T>C | CA412169433 | ARSA | c.1231A>G (p.Thr411Ala) c.973A>G (p.Thr325Ala) c.99A>G c.1128A>G (p.Pro376=) c.1345A>G (p.Thr449Ala) | |
22 | g.50625444T>G | CA412169436 | ARSA | c.1231A>C (p.Thr411Pro) c.973A>C (p.Thr325Pro) c.99A>C c.1128A>C (p.Pro376=) c.1345A>C (p.Thr449Pro) | dbSNP |
22 | g.50625444T= | CA2410958485 | ARSA | c.1231A= (p.Thr411=) c.973A= (p.Thr325=) c.99A= c.1128A= (p.Pro376=) c.1345A= (p.Thr449=) | |
22 | g.50625446_50625454del | CA278488 | ARSA | c.1223_1231del (p.Ser408_Thr410del) c.965_973del (p.Ser322_Thr324del) c.91_99del c.1120_1128del (p.Val374_Pro376del) c.1337_1345del (p.Ser446_Thr448del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625445G>A | CA515391317 | ARSA | c.1230C>T (p.Thr410=) c.972C>T (p.Thr324=) c.98C>T c.1127C>T (p.Pro376Leu) c.1344C>T (p.Thr448=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625445G>C | CA515391322 | ARSA | c.1230C>G (p.Thr410=) c.972C>G (p.Thr324=) c.98C>G c.1127C>G (p.Pro376Arg) c.1344C>G (p.Thr448=) | |
22 | g.50625445G>T | CA515391323 | ARSA | c.1230C>A (p.Thr410=) c.972C>A (p.Thr324=) c.98C>A c.1127C>A (p.Pro376Gln) c.1344C>A (p.Thr448=) | |
22 | g.50625446G>A | CA116009 | ARSA | c.1229C>T (p.Thr410Ile) c.971C>T (p.Thr324Ile) c.97C>T c.1126C>T (p.Pro376Ser) c.1343C>T (p.Thr448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625446G>C | CA412169442 | ARSA | c.1229C>G (p.Thr410Ser) c.971C>G (p.Thr324Ser) c.97C>G c.1126C>G (p.Pro376Ala) c.1343C>G (p.Thr448Ser) | |
22 | g.50625446G= | CA2410958486 | ARSA | c.1229C= (p.Thr410=) c.971C= (p.Thr324=) c.97C= c.1126C= (p.Pro376=) c.1343C= (p.Thr448=) | |
22 | g.50625446G>T | CA412169447 | ARSA | c.1229C>A (p.Thr410Asn) c.971C>A (p.Thr324Asn) c.97C>A c.1126C>A (p.Pro376Thr) c.1343C>A (p.Thr448Asn) | gnomAD v4 |
22 | g.50625446_50625447del | CA2499226240 | ARSA | c.1228_1229del (p.Thr410HisfsTer16) c.970_971del (p.Thr324HisfsTer16) c.96_97del c.1125_1126del (p.Pro376ThrfsTer?) c.1342_1343del (p.Thr448HisfsTer16) | ClinVar dbSNP |
22 | g.50625446_50625448delinsGTA | CA2410958487 | ARSA | c.1227_1229delinsTAC (p.Asp409=) c.969_971delinsTAC (p.Asp323=) c.95_97delinsTAC c.1124_1126delinsTAC (p.Ile375=) c.1341_1343delinsTAC (p.Asp447=) | |
22 | g.50625447T>A | CA412169452 | ARSA | c.1228A>T (p.Thr410Ser) c.970A>T (p.Thr324Ser) c.96A>T c.1125A>T (p.Ile375=) c.1342A>T (p.Thr448Ser) | |
22 | g.50625447T>C | CA412169457 | ARSA | c.1228A>G (p.Thr410Ala) c.970A>G (p.Thr324Ala) c.96A>G c.1125A>G (p.Ile375Met) c.1342A>G (p.Thr448Ala) | gnomAD v4 |
22 | g.50625447T>G | CA412169469 | ARSA | c.1228A>C (p.Thr410Pro) c.970A>C (p.Thr324Pro) c.96A>C c.1125A>C (p.Ile375=) c.1342A>C (p.Thr448Pro) | |
22 | g.50625447dup | CA2573158299 | ARSA | c.1228dup (p.Thr410AsnfsTer17) c.970dup (p.Thr324AsnfsTer17) c.96dup c.1125dup (p.Pro376ThrfsTer?) c.1342dup (p.Thr448AsnfsTer17) | ClinVar dbSNP |
22 | g.50625448_50625449del | CA1139667192 | ARSA | c.1227_1228del (p.Thr410HisfsTer16) c.969_970del (p.Thr324HisfsTer16) c.95_96del c.1124_1125del (p.Ile375ThrfsTer?) c.1341_1342del (p.Thr448HisfsTer16) | ClinVar dbSNP |
22 | g.50625448A>C | CA412169475 | ARSA | c.1227T>G (p.Asp409Glu) c.969T>G (p.Asp323Glu) c.95T>G c.1124T>G (p.Ile375Arg) c.1341T>G (p.Asp447Glu) | |
22 | g.50625448A>G | CA515391336 | ARSA | c.1227T>C (p.Asp409=) c.969T>C (p.Asp323=) c.95T>C c.1124T>C (p.Ile375Thr) c.1341T>C (p.Asp447=) | ClinVar gnomAD v4 |
22 | g.50625448A>T | CA412169478 | ARSA | c.1227T>A (p.Asp409Glu) c.969T>A (p.Asp323Glu) c.95T>A c.1124T>A (p.Ile375Lys) c.1341T>A (p.Asp447Glu) | |
22 | g.50625449T>A | CA412169488 | ARSA | c.1226A>T (p.Asp409Val) c.968A>T (p.Asp323Val) c.94A>T c.1123A>T (p.Ile375Leu) c.1340A>T (p.Asp447Val) | |
22 | g.50625449T>C | CA412169486 | ARSA | c.1226A>G (p.Asp409Gly) c.968A>G (p.Asp323Gly) c.94A>G c.1123A>G (p.Ile375Val) c.1340A>G (p.Asp447Gly) | |
22 | g.50625449T>G | CA412169485 | ARSA | c.1226A>C (p.Asp409Ala) c.968A>C (p.Asp323Ala) c.94A>C c.1123A>C (p.Ile375Leu) c.1340A>C (p.Asp447Ala) | |
22 | g.50625450C>A | CA412169494 | ARSA | c.1225G>T (p.Asp409Tyr) c.967G>T (p.Asp323Tyr) c.93G>T c.1122G>T (p.Val374=) c.1339G>T (p.Asp447Tyr) | |
22 | g.50625450C>G | CA412169499 | ARSA | c.1225G>C (p.Asp409His) c.967G>C (p.Asp323His) c.93G>C c.1122G>C (p.Val374=) c.1339G>C (p.Asp447His) | |
22 | g.50625450C>T | CA412169500 | ARSA | c.1225G>A (p.Asp409Asn) c.967G>A (p.Asp323Asn) c.93G>A c.1122G>A (p.Val374=) c.1339G>A (p.Asp447Asn) | COSMIC |
22 | g.50625451A>C | CA412169503 | ARSA | c.1224T>G (p.Ser408Arg) c.966T>G (p.Ser322Arg) c.92T>G c.1121T>G (p.Val374Gly) c.1338T>G (p.Ser446Arg) | |
22 | g.50625451A>G | CA515391350 | ARSA | c.1224T>C (p.Ser408=) c.966T>C (p.Ser322=) c.92T>C c.1121T>C (p.Val374Ala) c.1338T>C (p.Ser446=) | |
22 | g.50625451A>T | CA412169505 | ARSA | c.1224T>A (p.Ser408Arg) c.966T>A (p.Ser322Arg) c.92T>A c.1121T>A (p.Val374Glu) c.1338T>A (p.Ser446Arg) | |
22 | g.50625452C>A | CA412169508 | ARSA | c.1223G>T (p.Ser408Ile) c.965G>T (p.Ser322Ile) c.91G>T c.1120G>T (p.Val374Leu) c.1337G>T (p.Ser446Ile) | |
22 | g.50625452C= | CA2410958488 | ARSA | c.1223G= (p.Ser408=) c.965G= (p.Ser322=) c.91G= c.1120G= (p.Val374=) c.1337G= (p.Ser446=) | |
22 | g.50625452C>G | CA412169510 | ARSA | c.1223G>C (p.Ser408Thr) c.965G>C (p.Ser322Thr) c.91G>C c.1120G>C (p.Val374Leu) c.1337G>C (p.Ser446Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625452C>T | CA10324762 | ARSA | c.1223G>A (p.Ser408Asn) c.965G>A (p.Ser322Asn) c.91G>A c.1120G>A (p.Val374Met) c.1337G>A (p.Ser446Asn) | ClinVar dbSNP ExAC gnomAD v2 |
22 | g.50625453T>A | CA412169512 | ARSA | c.1222A>T (p.Ser408Cys) c.964A>T (p.Ser322Cys) c.90A>T c.1119A>T (p.Thr373=) c.1336A>T (p.Ser446Cys) | |
22 | g.50625453T>C | CA218992 | ARSA | c.1222A>G (p.Ser408Gly) c.964A>G (p.Ser322Gly) c.90A>G c.1119A>G (p.Thr373=) c.1336A>G (p.Ser446Gly) | ClinVar dbSNP gnomAD v4 |
22 | g.50625453T>G | CA412169516 | ARSA | c.1222A>C (p.Ser408Arg) c.964A>C (p.Ser322Arg) c.90A>C c.1119A>C (p.Thr373=) c.1336A>C (p.Ser446Arg) | |
22 | g.50625453T= | CA2410958489 | ARSA | c.1222A= (p.Ser408=) c.964A= (p.Ser322=) c.90A= c.1119A= (p.Thr373=) c.1336A= (p.Ser446=) | |
22 | g.50625454G>A | CA515391358 | ARSA | c.1221C>T (p.His407=) c.963C>T (p.His321=) c.89C>T c.1118C>T (p.Thr373Ile) c.1335C>T (p.His445=) | |
22 | g.50625454G>C | CA412169518 | ARSA | c.1221C>G (p.His407Gln) c.963C>G (p.His321Gln) c.89C>G c.1118C>G (p.Thr373Arg) c.1335C>G (p.His445Gln) | |
22 | g.50625454G>T | CA412169519 | ARSA | c.1221C>A (p.His407Gln) c.963C>A (p.His321Gln) c.89C>A c.1118C>A (p.Thr373Lys) c.1335C>A (p.His445Gln) | |
22 | g.50625455T>A | CA412169526 | ARSA | c.1220A>T (p.His407Leu) c.962A>T (p.His321Leu) c.88A>T c.1117A>T (p.Thr373Ser) c.1334A>T (p.His445Leu) | |
22 | g.50625455T>C | CA412169529 | ARSA | c.1220A>G (p.His407Arg) c.962A>G (p.His321Arg) c.88A>G c.1117A>G (p.Thr373Ala) c.1334A>G (p.His445Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625455T>G | CA412169524 | ARSA | c.1220A>C (p.His407Pro) c.962A>C (p.His321Pro) c.88A>C c.1117A>C (p.Thr373Pro) c.1334A>C (p.His445Pro) | |
22 | g.50625455T= | CA2410958490 | ARSA | c.1220A= (p.His407=) c.962A= (p.His321=) c.88A= c.1117A= (p.Thr373=) c.1334A= (p.His445=) | |
22 | g.50625456G>A | CA412169531 | ARSA | c.1219C>T (p.His407Tyr) c.961C>T (p.His321Tyr) c.87C>T c.1116C>T (p.Pro372=) c.1333C>T (p.His445Tyr) | |
22 | g.50625456G>C | CA412169532 | ARSA | c.1219C>G (p.His407Asp) c.961C>G (p.His321Asp) c.87C>G c.1116C>G (p.Pro372=) c.1333C>G (p.His445Asp) | |
22 | g.50625456G>T | CA412169533 | ARSA | c.1219C>A (p.His407Asn) c.961C>A (p.His321Asn) c.87C>A c.1116C>A (p.Pro372=) c.1333C>A (p.His445Asn) | |
22 | g.50625457G>A | CA515391364 | ARSA | c.1218C>T (p.Ala406=) c.960C>T (p.Ala320=) c.86C>T c.1115C>T (p.Pro372Leu) c.1332C>T (p.Ala444=) | COSMIC |
22 | g.50625457G>C | CA515391367 | ARSA | c.1218C>G (p.Ala406=) c.960C>G (p.Ala320=) c.86C>G c.1115C>G (p.Pro372Arg) c.1332C>G (p.Ala444=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625457G= | CA2410958491 | ARSA | c.1218C= (p.Ala406=) c.960C= (p.Ala320=) c.86C= c.1115C= (p.Pro372=) c.1332C= (p.Ala444=) | |
22 | g.50625457G>T | CA515391369 | ARSA | c.1218C>A (p.Ala406=) c.960C>A (p.Ala320=) c.86C>A c.1115C>A (p.Pro372His) c.1332C>A (p.Ala444=) | |
22 | g.50625458G>A | CA412169536 | ARSA | c.1217C>T (p.Ala406Val) c.959C>T (p.Ala320Val) c.85C>T c.1114C>T (p.Pro372Ser) c.1331C>T (p.Ala444Val) | |
22 | g.50625458G>C | CA412169538 | ARSA | c.1217C>G (p.Ala406Gly) c.959C>G (p.Ala320Gly) c.85C>G c.1114C>G (p.Pro372Ala) c.1331C>G (p.Ala444Gly) | |
22 | g.50625458G>T | CA412169542 | ARSA | c.1217C>A (p.Ala406Asp) c.959C>A (p.Ala320Asp) c.85C>A c.1114C>A (p.Pro372Thr) c.1331C>A (p.Ala444Asp) | |
22 | g.50625459C>A | CA10324763 | ARSA | c.1216G>T (p.Ala406Ser) c.958G>T (p.Ala320Ser) c.84G>T c.1113G>T (p.Leu371=) c.1330G>T (p.Ala444Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625459C= | CA2410958492 | ARSA | c.1216G= (p.Ala406=) c.958G= (p.Ala320=) c.84G= c.1113G= (p.Leu371=) c.1330G= (p.Ala444=) | |
22 | g.50625459C>G | CA412169550 | ARSA | c.1216G>C (p.Ala406Pro) c.958G>C (p.Ala320Pro) c.84G>C c.1113G>C (p.Leu371=) c.1330G>C (p.Ala444Pro) | |
22 | g.50625459C>T | CA412169551 | ARSA | c.1216G>A (p.Ala406Thr) c.958G>A (p.Ala320Thr) c.84G>A c.1113G>A (p.Leu371=) c.1330G>A (p.Ala444Thr) | gnomAD v4 |
22 | g.50625460A>C | CA515391383 | ARSA | c.1215T>G (p.Ser405=) c.957T>G (p.Ser319=) c.83T>G c.1112T>G (p.Leu371Arg) c.1329T>G (p.Ser443=) | |
22 | g.50625460A>G | CA515391384 | ARSA | c.1215T>C (p.Ser405=) c.957T>C (p.Ser319=) c.83T>C c.1112T>C (p.Leu371Pro) c.1329T>C (p.Ser443=) | |
22 | g.50625460A>T | CA515391381 | ARSA | c.1215T>A (p.Ser405=) c.957T>A (p.Ser319=) c.83T>A c.1112T>A (p.Leu371Gln) c.1329T>A (p.Ser443=) | |
22 | g.50625461G>A | CA10324764 | ARSA | c.1214C>T (p.Ser405Phe) c.956C>T (p.Ser319Phe) c.82C>T c.1111C>T (p.Leu371=) c.1328C>T (p.Ser443Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625461G>C | CA412169554 | ARSA | c.1214C>G (p.Ser405Cys) c.956C>G (p.Ser319Cys) c.82C>G c.1111C>G (p.Leu371Val) c.1328C>G (p.Ser443Cys) | |
22 | g.50625461G= | CA2410958493 | ARSA | c.1214C= (p.Ser405=) c.956C= (p.Ser319=) c.82C= c.1111C= (p.Leu371=) c.1328C= (p.Ser443=) | |
22 | g.50625461G>T | CA412169556 | ARSA | c.1214C>A (p.Ser405Tyr) c.956C>A (p.Ser319Tyr) c.82C>A c.1111C>A (p.Leu371Met) c.1328C>A (p.Ser443Tyr) | |
22 | g.50625462A= | CA2410958494 | ARSA | c.1213T= (p.Ser405=) c.955T= (p.Ser319=) c.81T= c.1110T= (p.Ala370=) c.1327T= (p.Ser443=) | |
22 | g.50625462A>C | CA412169566 | ARSA | c.1213T>G (p.Ser405Ala) c.955T>G (p.Ser319Ala) c.81T>G c.1110T>G (p.Ala370=) c.1327T>G (p.Ser443Ala) | |
22 | g.50625462A>G | CA10324765 | ARSA | c.1213T>C (p.Ser405Pro) c.955T>C (p.Ser319Pro) c.81T>C c.1110T>C (p.Ala370=) c.1327T>C (p.Ser443Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625462A>T | CA412169562 | ARSA | c.1213T>A (p.Ser405Thr) c.955T>A (p.Ser319Thr) c.81T>A c.1110T>A (p.Ala370=) c.1327T>A (p.Ser443Thr) | |
22 | g.50625463G>A | CA515391400 | ARSA | c.1212C>T (p.Gly404=) c.954C>T (p.Gly318=) c.80C>T c.1109C>T (p.Ala370Val) c.1326C>T (p.Gly442=) | |
22 | g.50625463G>C | CA515391399 | ARSA | c.1212C>G (p.Gly404=) c.954C>G (p.Gly318=) c.80C>G c.1109C>G (p.Ala370Gly) c.1326C>G (p.Gly442=) | gnomAD v4 |
22 | g.50625463G>T | CA515391396 | ARSA | c.1212C>A (p.Gly404=) c.954C>A (p.Gly318=) c.80C>A c.1109C>A (p.Ala370Asp) c.1326C>A (p.Gly442=) | gnomAD v4 |
22 | g.50625464C>A | CA412169572 | ARSA | c.1211G>T (p.Gly404Val) c.953G>T (p.Gly318Val) c.79G>T c.1108G>T (p.Ala370Ser) c.1325G>T (p.Gly442Val) | |
22 | g.50625464C>G | CA412169575 | ARSA | c.1211G>C (p.Gly404Ala) c.953G>C (p.Gly318Ala) c.79G>C c.1108G>C (p.Ala370Pro) c.1325G>C (p.Gly442Ala) | |
22 | g.50625464C>T | CA412169579 | ARSA | c.1211G>A (p.Gly404Asp) c.953G>A (p.Gly318Asp) c.79G>A c.1108G>A (p.Ala370Thr) c.1325G>A (p.Gly442Asp) | |
22 | g.50625465C>A | CA412169581 | ARSA | c.1211-1G>T (n.1211-1G>T) c.953-1G>T (n.953-1G>T) c.79-1G>T c.1108-1G>T (n.1108-1G>T) c.1324G>T (p.Gly442Cys) | gnomAD v4 |
22 | g.50625465C>G | CA412169582 | ARSA | c.1211-1G>C (n.1211-1G>C) c.953-1G>C (n.953-1G>C) c.79-1G>C c.1108-1G>C (n.1108-1G>C) c.1324G>C (p.Gly442Arg) | |
22 | g.50625465C>T | CA412169587 | ARSA | c.1211-1G>A (n.1211-1G>A) c.953-1G>A (n.953-1G>A) c.79-1G>A c.1108-1G>A (n.1108-1G>A) c.1324G>A (p.Gly442Ser) | |
22 | g.50625466T>A | CA412169591 | ARSA | c.1211-2A>T (n.1211-2A>T) c.953-2A>T (n.953-2A>T) c.79-2A>T c.1108-2A>T (n.1108-2A>T) c.1323A>T (p.Pro441=) | |
22 | g.50625466T>C | CA325531231 | ARSA | c.1211-2A>G (n.1211-2A>G) c.953-2A>G (n.953-2A>G) c.79-2A>G c.1108-2A>G (n.1108-2A>G) c.1323A>G (p.Pro441=) | ClinVar dbSNP |
22 | g.50625466T>G | CA412169596 | ARSA | c.1211-2A>C (n.1211-2A>C) c.953-2A>C (n.953-2A>C) c.79-2A>C c.1108-2A>C (n.1108-2A>C) c.1323A>C (p.Pro441=) | |
22 | g.50625466T= | CA2410958495 | ARSA | c.1211-2A= (n.1211-2A=) c.953-2A= (n.953-2A=) c.79-2A= c.1108-2A= (n.1108-2A=) c.1323A= (p.Pro441=) | |
22 | g.50625467G>A | CA10324766 | ARSA | c.1211-3C>T (n.1211-3C>T) c.953-3C>T (n.953-3C>T) c.79-3C>T c.1108-3C>T (n.1108-3C>T) c.1322C>T (p.Pro441Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625467G= | CA2410958496 | ARSA | c.1211-3C= (n.1211-3C=) c.953-3C= (n.953-3C=) c.79-3C= c.1108-3C= (n.1108-3C=) c.1322C= (p.Pro441=) | |
22 | g.50625468G>A | CA10324767 | ARSA | c.1211-4C>T (n.1211-4C>T) c.953-4C>T (n.953-4C>T) c.79-4C>T c.1108-4C>T (n.1108-4C>T) c.1321C>T (p.Pro441Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625468G= | CA2410958497 | ARSA | c.1211-4C= (n.1211-4C=) c.953-4C= (n.953-4C=) c.79-4C= c.1108-4C= (n.1108-4C=) c.1321C= (p.Pro441=) | |
22 | g.50625469G>A | CA10324768 | ARSA | c.1211-5C>T (n.1211-5C>T) c.953-5C>T (n.953-5C>T) c.79-5C>T c.1108-5C>T (n.1108-5C>T) c.1320C>T (p.Ser440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625469G>C | CA10324769 | ARSA | c.1211-5C>G (n.1211-5C>G) c.953-5C>G (n.953-5C>G) c.79-5C>G c.1108-5C>G (n.1108-5C>G) c.1320C>G (p.Ser440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625469G= | CA2410958498 | ARSA | c.1211-5C= (n.1211-5C=) c.953-5C= (n.953-5C=) c.79-5C= c.1108-5C= (n.1108-5C=) c.1320C= (p.Ser440=) | |
22 | g.50625471del | CA2573158301 | ARSA | c.1211-7del (n.1211-7del) c.953-7del (n.953-7del) c.79-7del c.1108-7del (n.1108-7del) c.1318del (p.Ser440ProfsTer21) | ClinVar dbSNP |
22 | g.50625471A= | CA2410958499 | ARSA | c.1211-7T= (n.1211-7T=) c.953-7T= (n.953-7T=) c.79-7T= c.1108-7T= (n.1108-7T=) c.1318T= (p.Ser440=) | |
22 | g.50625471A>T | CA325531232 | ARSA | c.1211-7T>A (n.1211-7T>A) c.953-7T>A (n.953-7T>A) c.79-7T>A c.1108-7T>A (n.1108-7T>A) c.1318T>A (p.Ser440Thr) | dbSNP |
22 | g.50625471_50625472delinsAG | CA2410958500 | ARSA | c.1211-8_1211-7delinsCT (n.1211-8_1211-7delinsCT) c.953-8_953-7delinsCT (n.953-8_953-7delinsCT) c.79-8_79-7delinsCT c.1108-8_1108-7delinsCT (n.1108-8_1108-7delinsCT) c.1317_1318delinsCT (p.Pro439=) | |
22 | g.50625472G>A | CA640358580 | ARSA | c.1211-8C>T (n.1211-8C>T) c.953-8C>T (n.953-8C>T) c.79-8C>T c.1108-8C>T (n.1108-8C>T) c.1317C>T (p.Pro439=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625472G= | CA2410958501 | ARSA | c.1211-8C= (n.1211-8C=) c.953-8C= (n.953-8C=) c.79-8C= c.1108-8C= (n.1108-8C=) c.1317C= (p.Pro439=) | |
22 | g.50625476del | CA754067865 | ARSA | c.1211-8del (n.1211-8del) c.953-8del (n.953-8del) c.79-8del c.1108-8del (n.1108-8del) c.1317del (p.Ser440ProfsTer21) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625473G>A | CA325531234 | ARSA | c.1211-9C>T (n.1211-9C>T) c.953-9C>T (n.953-9C>T) c.79-9C>T c.1108-9C>T (n.1108-9C>T) c.1316C>T (p.Pro439Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625473G= | CA2410958502 | ARSA | c.1211-9C= (n.1211-9C=) c.953-9C= (n.953-9C=) c.79-9C= c.1108-9C= (n.1108-9C=) c.1316C= (p.Pro439=) | |
22 | g.50625473G>T | CA2505893682 | ARSA | c.1211-9C>A (n.1211-9C>A) c.953-9C>A (n.953-9C>A) c.79-9C>A c.1108-9C>A (n.1108-9C>A) c.1316C>A (p.Pro439His) | |
22 | g.50625474G>A | CA220986 | ARSA | c.1211-10C>T (n.1211-10C>T) c.953-10C>T (n.953-10C>T) c.79-10C>T c.1108-10C>T (n.1108-10C>T) c.1315C>T (p.Pro439Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625474G= | CA2410958503 | ARSA | c.1211-10C= (n.1211-10C=) c.953-10C= (n.953-10C=) c.79-10C= c.1108-10C= (n.1108-10C=) c.1315C= (p.Pro439=) | |
22 | g.50625476G>A | CA2410958504 | ARSA | c.1211-12C>T (n.1211-12C>T) c.953-12C>T (n.953-12C>T) c.79-12C>T c.1108-12C>T (n.1108-12C>T) c.1313C>T (p.Ala438Val) | dbSNP gnomAD v4 |
22 | g.50625476G>C | CA640358581 | ARSA | c.1211-12C>G (n.1211-12C>G) c.953-12C>G (n.953-12C>G) c.79-12C>G c.1108-12C>G (n.1108-12C>G) c.1313C>G (p.Ala438Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50625476G= | CA2410958505 | ARSA | c.1211-12C= (n.1211-12C=) c.953-12C= (n.953-12C=) c.79-12C= c.1108-12C= (n.1108-12C=) c.1313C= (p.Ala438=) | |
22 | g.50625477C>A | CA2657591028 | ARSA | c.1211-13G>T (n.1211-13G>T) c.953-13G>T (n.953-13G>T) c.79-13G>T c.1108-13G>T (n.1108-13G>T) c.1312G>T (p.Ala438Ser) | gnomAD v4 |
22 | g.50625477C>T | CA2577767857 | ARSA | c.1211-13G>A (n.1211-13G>A) c.953-13G>A (n.953-13G>A) c.79-13G>A c.1108-13G>A (n.1108-13G>A) c.1312G>A (p.Ala438Thr) | |
22 | g.50625479A= | CA2410958506 | ARSA | c.1211-15T= (n.1211-15T=) c.953-15T= (n.953-15T=) c.79-15T= c.1108-15T= (n.1108-15T=) c.1310T= (p.Leu437=) | |
22 | g.50625479A>C | CA2657591029 | ARSA | c.1211-15T>G (n.1211-15T>G) c.953-15T>G (n.953-15T>G) c.79-15T>G c.1108-15T>G (n.1108-15T>G) c.1310T>G (p.Leu437Trp) | ClinVar gnomAD v4 |
22 | g.50625479A>G | CA10324770 | ARSA | c.1211-15T>C (n.1211-15T>C) c.953-15T>C (n.953-15T>C) c.79-15T>C c.1108-15T>C (n.1108-15T>C) c.1310T>C (p.Leu437Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625481T>G | CA1026680297 | ARSA | c.1211-17A>C (n.1211-17A>C) c.953-17A>C (n.953-17A>C) c.79-17A>C c.1108-17A>C (n.1108-17A>C) c.1308A>C (p.Glu436Asp) | dbSNP |
22 | g.50625481T= | CA2410958507 | ARSA | c.1211-17A= (n.1211-17A=) c.953-17A= (n.953-17A=) c.79-17A= c.1108-17A= (n.1108-17A=) c.1308A= (p.Glu436=) | |
22 | g.50625484T>G | CA2657591030 | ARSA | c.1211-20A>C (n.1211-20A>C) c.953-20A>C (n.953-20A>C) c.79-20A>C c.1108-20A>C (n.1108-20A>C) c.1305A>C (p.Thr435=) | gnomAD v4 |
22 | g.50625485G>C | CA2657591031 | ARSA | c.1211-21C>G (n.1211-21C>G) c.953-21C>G (n.953-21C>G) c.79-21C>G c.1108-21C>G (n.1108-21C>G) c.1304C>G (p.Thr435Arg) | gnomAD v4 |
22 | g.50625486T>C | CA2657591032 | ARSA | c.1211-22A>G (n.1211-22A>G) c.953-22A>G (n.953-22A>G) c.79-22A>G c.1108-22A>G (n.1108-22A>G) c.1303A>G (p.Thr435Ala) | gnomAD v4 |
22 | g.50625486T>G | CA2410958509 | ARSA | c.1211-22A>C (n.1211-22A>C) c.953-22A>C (n.953-22A>C) c.79-22A>C c.1108-22A>C (n.1108-22A>C) c.1303A>C (p.Thr435Pro) | dbSNP |
22 | g.50625486T= | CA2410958508 | ARSA | c.1211-22A= (n.1211-22A=) c.953-22A= (n.953-22A=) c.79-22A= c.1108-22A= (n.1108-22A=) c.1303A= (p.Thr435=) | |
22 | g.50625487G>A | CA2657591033 | ARSA | c.1211-23C>T (n.1211-23C>T) c.953-23C>T (n.953-23C>T) c.79-23C>T c.1108-23C>T (n.1108-23C>T) c.1302C>T (p.Cys434=) | gnomAD v4 |
22 | g.50625489A>C | CA2738229780 | ARSA | c.1211-25T>G (n.1211-25T>G) c.953-25T>G (n.953-25T>G) c.79-25T>G c.1108-25T>G (n.1108-25T>G) c.1300T>G (p.Cys434Gly) | dbSNP |
22 | g.50625490C>T | CA2819316138 | ARSA | c.1211-26G>A (n.1211-26G>A) c.953-26G>A (n.953-26G>A) c.79-26G>A c.1108-26G>A (n.1108-26G>A) c.1299G>A (p.Leu433=) | |
22 | g.50625492G>A | CA640358582 | ARSA | c.1211-28C>T (n.1211-28C>T) c.953-28C>T (n.953-28C>T) c.79-28C>T c.1108-28C>T (n.1108-28C>T) c.1297C>T (p.Leu433=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625492G>C | CA10324771 | ARSA | c.1211-28C>G (n.1211-28C>G) c.953-28C>G (n.953-28C>G) c.79-28C>G c.1108-28C>G (n.1108-28C>G) c.1297C>G (p.Leu433Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625492G= | CA2410958510 | ARSA | c.1211-28C= (n.1211-28C=) c.953-28C= (n.953-28C=) c.79-28C= c.1108-28C= (n.1108-28C=) c.1297C= (p.Leu433=) | |
22 | g.50625493G>C | CA2577767858 | ARSA | c.1211-29C>G (n.1211-29C>G) c.953-29C>G (n.953-29C>G) c.79-29C>G c.1108-29C>G (n.1108-29C>G) c.1296C>G (p.Ala432=) | gnomAD v4 |
22 | g.50625494G>A | CA640358583 | ARSA | c.1211-30C>T (n.1211-30C>T) c.953-30C>T (n.953-30C>T) c.79-30C>T c.1108-30C>T (n.1108-30C>T) c.1295C>T (p.Ala432Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625494G= | CA2410958511 | ARSA | c.1211-30C= (n.1211-30C=) c.953-30C= (n.953-30C=) c.79-30C= c.1108-30C= (n.1108-30C=) c.1295C= (p.Ala432=) | |
22 | g.50625494G>T | CA1026680300 | ARSA | c.1211-30C>A (n.1211-30C>A) c.953-30C>A (n.953-30C>A) c.79-30C>A c.1108-30C>A (n.1108-30C>A) c.1295C>A (p.Ala432Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625495C= | CA2410958512 | ARSA | c.1211-31G= (n.1211-31G=) c.953-31G= (n.953-31G=) c.79-31G= c.1108-31G= (n.1108-31G=) c.1294G= (p.Ala432=) | |
22 | g.50625495C>T | CA325531236 | ARSA | c.1211-31G>A (n.1211-31G>A) c.953-31G>A (n.953-31G>A) c.79-31G>A c.1108-31G>A (n.1108-31G>A) c.1294G>A (p.Ala432Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625497A>C | CA2819316139 | ARSA | c.1211-33T>G (n.1211-33T>G) c.953-33T>G (n.953-33T>G) c.79-33T>G c.1108-33T>G (n.1108-33T>G) c.1292T>G (p.Leu431Arg) | |
22 | g.50625498G>A | CA640358584 | ARSA | c.1211-34C>T (n.1211-34C>T) c.953-34C>T (n.953-34C>T) c.79-34C>T c.1108-34C>T (n.1108-34C>T) c.1291C>T (p.Leu431Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625498G>C | CA640358585 | ARSA | c.1211-34C>G (n.1211-34C>G) c.953-34C>G (n.953-34C>G) c.79-34C>G c.1108-34C>G (n.1108-34C>G) c.1291C>G (p.Leu431Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625498G= | CA2410958513 | ARSA | c.1211-34C= (n.1211-34C=) c.953-34C= (n.953-34C=) c.79-34C= c.1108-34C= (n.1108-34C=) c.1291C= (p.Leu431=) | |
22 | g.50625499G>A | CA2738230292 | ARSA | c.1211-35C>T (n.1211-35C>T) c.953-35C>T (n.953-35C>T) c.79-35C>T c.1108-35C>T (n.1108-35C>T) c.1290C>T (p.Ala430=) | dbSNP |
22 | g.50625501C>A | CA2657591034 | ARSA | c.1211-37G>T (n.1211-37G>T) c.953-37G>T (n.953-37G>T) c.79-37G>T c.1108-37G>T (n.1108-37G>T) c.1288G>T (p.Ala430Ser) | gnomAD v4 |
22 | g.50625501C= | CA2410958514 | ARSA | c.1211-37G= (n.1211-37G=) c.953-37G= (n.953-37G=) c.79-37G= c.1108-37G= (n.1108-37G=) c.1288G= (p.Ala430=) | |
22 | g.50625501C>T | CA10324772 | ARSA | c.1211-37G>A (n.1211-37G>A) c.953-37G>A (n.953-37G>A) c.79-37G>A c.1108-37G>A (n.1108-37G>A) c.1288G>A (p.Ala430Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625501_50625503delinsCGA | CA2410958515 | ARSA | c.1211-39_1211-37delinsTCG (n.1211-39_1211-37delinsTCG) c.953-39_953-37delinsTCG (n.953-39_953-37delinsTCG) c.79-39_79-37delinsTCG c.1108-39_1108-37delinsTCG (n.1108-39_1108-37delinsTCG) c.1286_1288delinsTCG (p.Leu429=) | |
22 | g.50625502G>A | CA10324773 | ARSA | c.1211-38C>T (n.1211-38C>T) c.953-38C>T (n.953-38C>T) c.79-38C>T c.1108-38C>T (n.1108-38C>T) c.1287C>T (p.Leu429=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625502G= | CA2410958516 | ARSA | c.1211-38C= (n.1211-38C=) c.953-38C= (n.953-38C=) c.79-38C= c.1108-38C= (n.1108-38C=) c.1287C= (p.Leu429=) | |
22 | g.50625502G>T | CA2657591035 | ARSA | c.1211-38C>A (n.1211-38C>A) c.953-38C>A (n.953-38C>A) c.79-38C>A c.1108-38C>A (n.1108-38C>A) c.1287C>A (p.Leu429=) | gnomAD v4 |
22 | g.50625505_50625506del | CA325531237 | ARSA | c.1211-39_1211-38del (n.1211-39_1211-38del) c.953-39_953-38del (n.953-39_953-38del) c.79-39_79-38del c.1108-39_1108-38del (n.1108-39_1108-38del) c.1286_1287del (p.Leu429ArgfsTer18) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625504G>A | CA1026680319 | ARSA | c.1211-40C>T (n.1211-40C>T) c.953-40C>T (n.953-40C>T) c.79-40C>T c.1108-40C>T (n.1108-40C>T) c.1285C>T (p.Leu429Phe) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625504G= | CA2410958517 | ARSA | c.1211-40C= (n.1211-40C=) c.953-40C= (n.953-40C=) c.79-40C= c.1108-40C= (n.1108-40C=) c.1285C= (p.Leu429=) | |
22 | g.50625505A= | CA2410958518 | ARSA | c.1211-41T= (n.1211-41T=) c.953-41T= (n.953-41T=) c.79-41T= c.1108-41T= (n.1108-41T=) c.1284T= (p.Pro428=) | |
22 | g.50625505A>G | CA10324774 | ARSA | c.1211-41T>C (n.1211-41T>C) c.953-41T>C (n.953-41T>C) c.79-41T>C c.1108-41T>C (n.1108-41T>C) c.1284T>C (p.Pro428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625505A>T | CA10324775 | ARSA | c.1211-41T>A (n.1211-41T>A) c.953-41T>A (n.953-41T>A) c.79-41T>A c.1108-41T>A (n.1108-41T>A) c.1284T>A (p.Pro428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625506G>A | CA2410958520 | ARSA | c.1211-42C>T (n.1211-42C>T) c.953-42C>T (n.953-42C>T) c.79-42C>T c.1108-42C>T (n.1108-42C>T) c.1283C>T (p.Pro428Leu) | dbSNP |
22 | g.50625506G= | CA2410958519 | ARSA | c.1211-42C= (n.1211-42C=) c.953-42C= (n.953-42C=) c.79-42C= c.1108-42C= (n.1108-42C=) c.1283C= (p.Pro428=) | |
22 | g.50625507G= | CA2410958521 | ARSA | c.1211-43C= (n.1211-43C=) c.953-43C= (n.953-43C=) c.79-43C= c.1108-43C= (n.1108-43C=) c.1282C= (p.Pro428=) | |
22 | g.50625507G>T | CA2410958522 | ARSA | c.1211-43C>A (n.1211-43C>A) c.953-43C>A (n.953-43C>A) c.79-43C>A c.1108-43C>A (n.1108-43C>A) c.1282C>A (p.Pro428Thr) | dbSNP |
22 | g.50625508A= | CA2410958523 | ARSA | c.1211-44T= (n.1211-44T=) c.953-44T= (n.953-44T=) c.79-44T= c.1108-44T= (n.1108-44T=) c.1281T= (p.Pro427=) | |
22 | g.50625508A>C | CA10324776 | ARSA | c.1211-44T>G (n.1211-44T>G) c.953-44T>G (n.953-44T>G) c.79-44T>G c.1108-44T>G (n.1108-44T>G) c.1281T>G (p.Pro427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625508A>G | CA2410958524 | ARSA | c.1211-44T>C (n.1211-44T>C) c.953-44T>C (n.953-44T>C) c.79-44T>C c.1108-44T>C (n.1108-44T>C) c.1281T>C (p.Pro427=) | dbSNP |
22 | g.50625509G>A | CA325531243 | ARSA | c.1211-45C>T (n.1211-45C>T) c.953-45C>T (n.953-45C>T) c.79-45C>T c.1108-45C>T (n.1108-45C>T) c.1280C>T (p.Pro427Leu) | dbSNP |
22 | g.50625509G>C | CA640358586 | ARSA | c.1211-45C>G (n.1211-45C>G) c.953-45C>G (n.953-45C>G) c.79-45C>G c.1108-45C>G (n.1108-45C>G) c.1280C>G (p.Pro427Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625509G= | CA2410958525 | ARSA | c.1211-45C= (n.1211-45C=) c.953-45C= (n.953-45C=) c.79-45C= c.1108-45C= (n.1108-45C=) c.1280C= (p.Pro427=) | |
22 | g.50625510G>A | CA2577767859 | ARSA | c.1211-46C>T (n.1211-46C>T) c.953-46C>T (n.953-46C>T) c.79-46C>T c.1108-46C>T (n.1108-46C>T) c.1279C>T (p.Pro427Ser) | |
22 | g.50625510G>C | CA2657591036 | ARSA | c.1211-46C>G (n.1211-46C>G) c.953-46C>G (n.953-46C>G) c.79-46C>G c.1108-46C>G (n.1108-46C>G) c.1279C>G (p.Pro427Ala) | gnomAD v4 |
22 | g.50625511G>A | CA754067908 | ARSA | c.1211-47C>T (n.1211-47C>T) c.953-47C>T (n.953-47C>T) c.79-47C>T c.1108-47C>T (n.1108-47C>T) c.1278C>T (p.Ala426=) | dbSNP gnomAD v4 |
22 | g.50625511G= | CA2410958526 | ARSA | c.1211-47C= (n.1211-47C=) c.953-47C= (n.953-47C=) c.79-47C= c.1108-47C= (n.1108-47C=) c.1278C= (p.Ala426=) | |
22 | g.50625512G>A | CA2657591037 | ARSA | c.1211-48C>T (n.1211-48C>T) c.953-48C>T (n.953-48C>T) c.79-48C>T c.1108-48C>T (n.1108-48C>T) c.1277C>T (p.Ala426Val) | gnomAD v4 |
22 | g.50625513C>A | CA2657591038 | ARSA | c.1211-49G>T (n.1211-49G>T) c.953-49G>T (n.953-49G>T) c.79-49G>T c.1108-49G>T (n.1108-49G>T) c.1276G>T (p.Ala426Ser) | gnomAD v4 |
22 | g.50625513C>T | CA2657591039 | ARSA | c.1211-49G>A (n.1211-49G>A) c.953-49G>A (n.953-49G>A) c.79-49G>A c.1108-49G>A (n.1108-49G>A) c.1276G>A (p.Ala426Thr) | gnomAD v4 |
22 | g.50625514C= | CA2410958527 | ARSA | c.1211-50G= (n.1211-50G=) c.953-50G= (n.953-50G=) c.79-50G= c.1108-50G= (n.1108-50G=) c.1275G= (p.Leu425=) | |
22 | g.50625514C>T | CA1026680329 | ARSA | c.1211-50G>A (n.1211-50G>A) c.953-50G>A (n.953-50G>A) c.79-50G>A c.1108-50G>A (n.1108-50G>A) c.1275G>A (p.Leu425=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625515A= | CA2410958528 | ARSA | c.1211-51T= (n.1211-51T=) c.953-51T= (n.953-51T=) c.79-51T= c.1108-51T= (n.1108-51T=) c.1274T= (p.Leu425=) | |
22 | g.50625515A>G | CA10324777 | ARSA | c.1211-51T>C (n.1211-51T>C) c.953-51T>C (n.953-51T>C) c.79-51T>C c.1108-51T>C (n.1108-51T>C) c.1274T>C (p.Leu425Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625516G>C | CA10324778 | ARSA | c.1211-52C>G (n.1211-52C>G) c.953-52C>G (n.953-52C>G) c.79-52C>G c.1108-52C>G (n.1108-52C>G) c.1273C>G (p.Leu425Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625516G= | CA2410958529 | ARSA | c.1211-52C= (n.1211-52C=) c.953-52C= (n.953-52C=) c.79-52C= c.1108-52C= (n.1108-52C=) c.1273C= (p.Leu425=) |