Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53255800C>A | CA413170932 | IQSEC2 | c.1158G>T (p.Lys386Asn) c.288G>T (p.Lys96Asn) c.999G>T (p.Lys333Asn) c.969G>T (p.Lys323Asn) c.384G>T (p.Lys128Asn) c.1095G>T (p.Lys365Asn) c.321G>T (p.Lys107Asn) n.1322G>T c.501G>T (p.Lys167Asn) n.1316G>T | |
X | g.53255800C>G | CA413170935 | IQSEC2 | c.1158G>C (p.Lys386Asn) c.288G>C (p.Lys96Asn) c.999G>C (p.Lys333Asn) c.969G>C (p.Lys323Asn) c.384G>C (p.Lys128Asn) c.1095G>C (p.Lys365Asn) c.321G>C (p.Lys107Asn) n.1322G>C c.501G>C (p.Lys167Asn) n.1316G>C | |
X | g.53255800C>T | CA516674317 | IQSEC2 | c.1158G>A (p.Lys386=) c.288G>A (p.Lys96=) c.999G>A (p.Lys333=) c.969G>A (p.Lys323=) c.384G>A (p.Lys128=) c.1095G>A (p.Lys365=) c.321G>A (p.Lys107=) n.1322G>A c.501G>A (p.Lys167=) n.1316G>A | |
X | g.53255801T>A | CA413170938 | IQSEC2 | c.1157A>T (p.Lys386Met) c.287A>T (p.Lys96Met) c.998A>T (p.Lys333Met) c.968A>T (p.Lys323Met) c.383A>T (p.Lys128Met) c.1094A>T (p.Lys365Met) c.320A>T (p.Lys107Met) n.1321A>T c.500A>T (p.Lys167Met) n.1315A>T | |
X | g.53255801T>C | CA413170940 | IQSEC2 | c.1157A>G (p.Lys386Arg) c.287A>G (p.Lys96Arg) c.998A>G (p.Lys333Arg) c.968A>G (p.Lys323Arg) c.383A>G (p.Lys128Arg) c.1094A>G (p.Lys365Arg) c.320A>G (p.Lys107Arg) n.1321A>G c.500A>G (p.Lys167Arg) n.1315A>G | |
X | g.53255801T>G | CA413170943 | IQSEC2 | c.1157A>C (p.Lys386Thr) c.287A>C (p.Lys96Thr) c.998A>C (p.Lys333Thr) c.968A>C (p.Lys323Thr) c.383A>C (p.Lys128Thr) c.1094A>C (p.Lys365Thr) c.320A>C (p.Lys107Thr) n.1321A>C c.500A>C (p.Lys167Thr) n.1315A>C | |
X | g.53255802T>A | CA413170945 | IQSEC2 | c.1156A>T (p.Lys386Ter) c.286A>T (p.Lys96Ter) c.997A>T (p.Lys333Ter) c.967A>T (p.Lys323Ter) c.382A>T (p.Lys128Ter) c.1093A>T (p.Lys365Ter) c.319A>T (p.Lys107Ter) n.1320A>T c.499A>T (p.Lys167Ter) n.1314A>T | |
X | g.53255802T>C | CA413170947 | IQSEC2 | c.1156A>G (p.Lys386Glu) c.286A>G (p.Lys96Glu) c.997A>G (p.Lys333Glu) c.967A>G (p.Lys323Glu) c.382A>G (p.Lys128Glu) c.1093A>G (p.Lys365Glu) c.319A>G (p.Lys107Glu) n.1320A>G c.499A>G (p.Lys167Glu) n.1314A>G | |
X | g.53255802T>G | CA413170950 | IQSEC2 | c.1156A>C (p.Lys386Gln) c.286A>C (p.Lys96Gln) c.997A>C (p.Lys333Gln) c.967A>C (p.Lys323Gln) c.382A>C (p.Lys128Gln) c.1093A>C (p.Lys365Gln) c.319A>C (p.Lys107Gln) n.1320A>C c.499A>C (p.Lys167Gln) n.1314A>C | |
X | g.53255803C>A | CA413170953 | IQSEC2 | c.1155G>T (p.Lys385Asn) c.285G>T (p.Lys95Asn) c.996G>T (p.Lys332Asn) c.966G>T (p.Lys322Asn) c.381G>T (p.Lys127Asn) c.1092G>T (p.Lys364Asn) c.318G>T (p.Lys106Asn) n.1319G>T c.498G>T (p.Lys166Asn) n.1313G>T | |
X | g.53255803C>G | CA413170955 | IQSEC2 | c.1155G>C (p.Lys385Asn) c.285G>C (p.Lys95Asn) c.996G>C (p.Lys332Asn) c.966G>C (p.Lys322Asn) c.381G>C (p.Lys127Asn) c.1092G>C (p.Lys364Asn) c.318G>C (p.Lys106Asn) n.1319G>C c.498G>C (p.Lys166Asn) n.1313G>C | |
X | g.53255803C>T | CA516674320 | IQSEC2 | c.1155G>A (p.Lys385=) c.285G>A (p.Lys95=) c.996G>A (p.Lys332=) c.966G>A (p.Lys322=) c.381G>A (p.Lys127=) c.1092G>A (p.Lys364=) c.318G>A (p.Lys106=) n.1319G>A c.498G>A (p.Lys166=) n.1313G>A | |
X | g.53255804T>A | CA413170960 | IQSEC2 | c.1154A>T (p.Lys385Met) c.284A>T (p.Lys95Met) c.995A>T (p.Lys332Met) c.965A>T (p.Lys322Met) c.380A>T (p.Lys127Met) c.1091A>T (p.Lys364Met) c.317A>T (p.Lys106Met) n.1318A>T c.497A>T (p.Lys166Met) n.1312A>T | |
X | g.53255804T>C | CA413170963 | IQSEC2 | c.1154A>G (p.Lys385Arg) c.284A>G (p.Lys95Arg) c.995A>G (p.Lys332Arg) c.965A>G (p.Lys322Arg) c.380A>G (p.Lys127Arg) c.1091A>G (p.Lys364Arg) c.317A>G (p.Lys106Arg) n.1318A>G c.497A>G (p.Lys166Arg) n.1312A>G | |
X | g.53255804T>G | CA413170958 | IQSEC2 | c.1154A>C (p.Lys385Thr) c.284A>C (p.Lys95Thr) c.995A>C (p.Lys332Thr) c.965A>C (p.Lys322Thr) c.380A>C (p.Lys127Thr) c.1091A>C (p.Lys364Thr) c.317A>C (p.Lys106Thr) n.1318A>C c.497A>C (p.Lys166Thr) n.1312A>C | |
X | g.53255805T>A | CA413170967 | IQSEC2 | c.1153A>T (p.Lys385Ter) c.283A>T (p.Lys95Ter) c.994A>T (p.Lys332Ter) c.964A>T (p.Lys322Ter) c.379A>T (p.Lys127Ter) c.1090A>T (p.Lys364Ter) c.316A>T (p.Lys106Ter) n.1317A>T c.496A>T (p.Lys166Ter) n.1311A>T | |
X | g.53255805T>C | CA413170969 | IQSEC2 | c.1153A>G (p.Lys385Glu) c.283A>G (p.Lys95Glu) c.994A>G (p.Lys332Glu) c.964A>G (p.Lys322Glu) c.379A>G (p.Lys127Glu) c.1090A>G (p.Lys364Glu) c.316A>G (p.Lys106Glu) n.1317A>G c.496A>G (p.Lys166Glu) n.1311A>G | |
X | g.53255805T>G | CA413170972 | IQSEC2 | c.1153A>C (p.Lys385Gln) c.283A>C (p.Lys95Gln) c.994A>C (p.Lys332Gln) c.964A>C (p.Lys322Gln) c.379A>C (p.Lys127Gln) c.1090A>C (p.Lys364Gln) c.316A>C (p.Lys106Gln) n.1317A>C c.496A>C (p.Lys166Gln) n.1311A>C | |
X | g.53255806G>A | CA516674325 | IQSEC2 | c.1152C>T (p.Asp384=) c.282C>T (p.Asp94=) c.993C>T (p.Asp331=) c.963C>T (p.Asp321=) c.378C>T (p.Asp126=) c.1089C>T (p.Asp363=) c.315C>T (p.Asp105=) n.1316C>T c.495C>T (p.Asp165=) n.1310C>T | |
X | g.53255806G>C | CA413170973 | IQSEC2 | c.1152C>G (p.Asp384Glu) c.282C>G (p.Asp94Glu) c.993C>G (p.Asp331Glu) c.963C>G (p.Asp321Glu) c.378C>G (p.Asp126Glu) c.1089C>G (p.Asp363Glu) c.315C>G (p.Asp105Glu) n.1316C>G c.495C>G (p.Asp165Glu) n.1310C>G | |
X | g.53255806G>T | CA413170975 | IQSEC2 | c.1152C>A (p.Asp384Glu) c.282C>A (p.Asp94Glu) c.993C>A (p.Asp331Glu) c.963C>A (p.Asp321Glu) c.378C>A (p.Asp126Glu) c.1089C>A (p.Asp363Glu) c.315C>A (p.Asp105Glu) n.1316C>A c.495C>A (p.Asp165Glu) n.1310C>A | |
X | g.53255807T>A | CA413170983 | IQSEC2 | c.1151A>T (p.Asp384Val) c.281A>T (p.Asp94Val) c.992A>T (p.Asp331Val) c.962A>T (p.Asp321Val) c.377A>T (p.Asp126Val) c.1088A>T (p.Asp363Val) c.314A>T (p.Asp105Val) n.1315A>T c.494A>T (p.Asp165Val) n.1309A>T | |
X | g.53255807T>C | CA413170986 | IQSEC2 | c.1151A>G (p.Asp384Gly) c.281A>G (p.Asp94Gly) c.992A>G (p.Asp331Gly) c.962A>G (p.Asp321Gly) c.377A>G (p.Asp126Gly) c.1088A>G (p.Asp363Gly) c.314A>G (p.Asp105Gly) n.1315A>G c.494A>G (p.Asp165Gly) n.1309A>G | |
X | g.53255807T>G | CA413170989 | IQSEC2 | c.1151A>C (p.Asp384Ala) c.281A>C (p.Asp94Ala) c.992A>C (p.Asp331Ala) c.962A>C (p.Asp321Ala) c.377A>C (p.Asp126Ala) c.1088A>C (p.Asp363Ala) c.314A>C (p.Asp105Ala) n.1315A>C c.494A>C (p.Asp165Ala) n.1309A>C | |
X | g.53255808C>A | CA413170993 | IQSEC2 | c.1150G>T (p.Asp384Tyr) c.280G>T (p.Asp94Tyr) c.991G>T (p.Asp331Tyr) c.961G>T (p.Asp321Tyr) c.376G>T (p.Asp126Tyr) c.1087G>T (p.Asp363Tyr) c.313G>T (p.Asp105Tyr) n.1314G>T c.493G>T (p.Asp165Tyr) n.1308G>T | COSMIC COSMIC COSMIC |
X | g.53255808C= | CA2429777166 | IQSEC2 | c.1150G= (p.Asp384=) c.280G= (p.Asp94=) c.991G= (p.Asp331=) c.961G= (p.Asp321=) c.376G= (p.Asp126=) c.1087G= (p.Asp363=) c.313G= (p.Asp105=) n.1314G= c.493G= (p.Asp165=) n.1308G= | |
X | g.53255808C>G | CA413170994 | IQSEC2 | c.1150G>C (p.Asp384His) c.280G>C (p.Asp94His) c.991G>C (p.Asp331His) c.961G>C (p.Asp321His) c.376G>C (p.Asp126His) c.1087G>C (p.Asp363His) c.313G>C (p.Asp105His) n.1314G>C c.493G>C (p.Asp165His) n.1308G>C | |
X | g.53255808C>T | CA413170997 | IQSEC2 | c.1150G>A (p.Asp384Asn) c.280G>A (p.Asp94Asn) c.991G>A (p.Asp331Asn) c.961G>A (p.Asp321Asn) c.376G>A (p.Asp126Asn) c.1087G>A (p.Asp363Asn) c.313G>A (p.Asp105Asn) n.1314G>A c.493G>A (p.Asp165Asn) n.1308G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53255809C>A | CA413171000 | IQSEC2 | c.1149G>T (p.Gln383His) c.279G>T (p.Gln93His) c.990G>T (p.Gln330His) c.960G>T (p.Gln320His) c.375G>T (p.Gln125His) c.1086G>T (p.Gln362His) c.312G>T (p.Gln104His) n.1313G>T c.492G>T (p.Gln164His) n.1307G>T | |
X | g.53255809C= | CA2429777167 | IQSEC2 | c.1149G= (p.Gln383=) c.279G= (p.Gln93=) c.990G= (p.Gln330=) c.960G= (p.Gln320=) c.375G= (p.Gln125=) c.1086G= (p.Gln362=) c.312G= (p.Gln104=) n.1313G= c.492G= (p.Gln164=) n.1307G= | |
X | g.53255809C>G | CA413171003 | IQSEC2 | c.1149G>C (p.Gln383His) c.279G>C (p.Gln93His) c.990G>C (p.Gln330His) c.960G>C (p.Gln320His) c.375G>C (p.Gln125His) c.1086G>C (p.Gln362His) c.312G>C (p.Gln104His) n.1313G>C c.492G>C (p.Gln164His) n.1307G>C | |
X | g.53255809C>T | CA516674327 | IQSEC2 | c.1149G>A (p.Gln383=) c.279G>A (p.Gln93=) c.990G>A (p.Gln330=) c.960G>A (p.Gln320=) c.375G>A (p.Gln125=) c.1086G>A (p.Gln362=) c.312G>A (p.Gln104=) n.1313G>A c.492G>A (p.Gln164=) n.1307G>A | dbSNP gnomAD v4 |
X | g.53255810T>A | CA413171010 | IQSEC2 | c.1148A>T (p.Gln383Leu) c.278A>T (p.Gln93Leu) c.989A>T (p.Gln330Leu) c.959A>T (p.Gln320Leu) c.374A>T (p.Gln125Leu) c.1085A>T (p.Gln362Leu) c.311A>T (p.Gln104Leu) n.1312A>T c.491A>T (p.Gln164Leu) n.1306A>T | |
X | g.53255810T>C | CA413171007 | IQSEC2 | c.1148A>G (p.Gln383Arg) c.278A>G (p.Gln93Arg) c.989A>G (p.Gln330Arg) c.959A>G (p.Gln320Arg) c.374A>G (p.Gln125Arg) c.1085A>G (p.Gln362Arg) c.311A>G (p.Gln104Arg) n.1312A>G c.491A>G (p.Gln164Arg) n.1306A>G | |
X | g.53255810T>G | CA413171005 | IQSEC2 | c.1148A>C (p.Gln383Pro) c.278A>C (p.Gln93Pro) c.989A>C (p.Gln330Pro) c.959A>C (p.Gln320Pro) c.374A>C (p.Gln125Pro) c.1085A>C (p.Gln362Pro) c.311A>C (p.Gln104Pro) n.1312A>C c.491A>C (p.Gln164Pro) n.1306A>C | |
X | g.53255811G>A | CA413171013 | IQSEC2 | c.1147C>T (p.Gln383Ter) c.277C>T (p.Gln93Ter) c.988C>T (p.Gln330Ter) c.958C>T (p.Gln320Ter) c.373C>T (p.Gln125Ter) c.1084C>T (p.Gln362Ter) c.310C>T (p.Gln104Ter) n.1311C>T c.490C>T (p.Gln164Ter) n.1305C>T | |
X | g.53255811G>C | CA413171014 | IQSEC2 | c.1147C>G (p.Gln383Glu) c.277C>G (p.Gln93Glu) c.988C>G (p.Gln330Glu) c.958C>G (p.Gln320Glu) c.373C>G (p.Gln125Glu) c.1084C>G (p.Gln362Glu) c.310C>G (p.Gln104Glu) n.1311C>G c.490C>G (p.Gln164Glu) n.1305C>G | |
X | g.53255811G>T | CA413171016 | IQSEC2 | c.1147C>A (p.Gln383Lys) c.277C>A (p.Gln93Lys) c.988C>A (p.Gln330Lys) c.958C>A (p.Gln320Lys) c.373C>A (p.Gln125Lys) c.1084C>A (p.Gln362Lys) c.310C>A (p.Gln104Lys) n.1311C>A c.490C>A (p.Gln164Lys) n.1305C>A | |
X | g.53255812C>A | CA516674331 | IQSEC2 | c.1146G>T (p.Leu382=) c.276G>T (p.Leu92=) c.987G>T (p.Leu329=) c.957G>T (p.Leu319=) c.372G>T (p.Leu124=) c.1083G>T (p.Leu361=) c.309G>T (p.Leu103=) n.1310G>T c.489G>T (p.Leu163=) n.1304G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255812C= | CA2429777168 | IQSEC2 | c.1146G= (p.Leu382=) c.276G= (p.Leu92=) c.987G= (p.Leu329=) c.957G= (p.Leu319=) c.372G= (p.Leu124=) c.1083G= (p.Leu361=) c.309G= (p.Leu103=) n.1310G= c.489G= (p.Leu163=) n.1304G= | |
X | g.53255812C>G | CA516674332 | IQSEC2 | c.1146G>C (p.Leu382=) c.276G>C (p.Leu92=) c.987G>C (p.Leu329=) c.957G>C (p.Leu319=) c.372G>C (p.Leu124=) c.1083G>C (p.Leu361=) c.309G>C (p.Leu103=) n.1310G>C c.489G>C (p.Leu163=) n.1304G>C | |
X | g.53255812C>T | CA516674333 | IQSEC2 | c.1146G>A (p.Leu382=) c.276G>A (p.Leu92=) c.987G>A (p.Leu329=) c.957G>A (p.Leu319=) c.372G>A (p.Leu124=) c.1083G>A (p.Leu361=) c.309G>A (p.Leu103=) n.1310G>A c.489G>A (p.Leu163=) n.1304G>A | |
X | g.53255813A>C | CA413171019 | IQSEC2 | c.1145T>G (p.Leu382Arg) c.275T>G (p.Leu92Arg) c.986T>G (p.Leu329Arg) c.956T>G (p.Leu319Arg) c.371T>G (p.Leu124Arg) c.1082T>G (p.Leu361Arg) c.308T>G (p.Leu103Arg) n.1309T>G c.488T>G (p.Leu163Arg) n.1303T>G | |
X | g.53255813A>G | CA413171021 | IQSEC2 | c.1145T>C (p.Leu382Pro) c.275T>C (p.Leu92Pro) c.986T>C (p.Leu329Pro) c.956T>C (p.Leu319Pro) c.371T>C (p.Leu124Pro) c.1082T>C (p.Leu361Pro) c.308T>C (p.Leu103Pro) n.1309T>C c.488T>C (p.Leu163Pro) n.1303T>C | |
X | g.53255813A>T | CA413171023 | IQSEC2 | c.1145T>A (p.Leu382Gln) c.275T>A (p.Leu92Gln) c.986T>A (p.Leu329Gln) c.956T>A (p.Leu319Gln) c.371T>A (p.Leu124Gln) c.1082T>A (p.Leu361Gln) c.308T>A (p.Leu103Gln) n.1309T>A c.488T>A (p.Leu163Gln) n.1303T>A | |
X | g.53255814G>A | CA516674335 | IQSEC2 | c.1144C>T (p.Leu382=) c.274C>T (p.Leu92=) c.985C>T (p.Leu329=) c.955C>T (p.Leu319=) c.370C>T (p.Leu124=) c.1081C>T (p.Leu361=) c.307C>T (p.Leu103=) n.1308C>T c.487C>T (p.Leu163=) n.1302C>T | |
X | g.53255814G>C | CA413171025 | IQSEC2 | c.1144C>G (p.Leu382Val) c.274C>G (p.Leu92Val) c.985C>G (p.Leu329Val) c.955C>G (p.Leu319Val) c.370C>G (p.Leu124Val) c.1081C>G (p.Leu361Val) c.307C>G (p.Leu103Val) n.1308C>G c.487C>G (p.Leu163Val) n.1302C>G | |
X | g.53255814G>T | CA413171027 | IQSEC2 | c.1144C>A (p.Leu382Met) c.274C>A (p.Leu92Met) c.985C>A (p.Leu329Met) c.955C>A (p.Leu319Met) c.370C>A (p.Leu124Met) c.1081C>A (p.Leu361Met) c.307C>A (p.Leu103Met) n.1308C>A c.487C>A (p.Leu163Met) n.1302C>A | |
X | g.53255815G>A | CA516674336 | IQSEC2 | c.1143C>T (p.Asp381=) c.273C>T (p.Asp91=) c.984C>T (p.Asp328=) c.954C>T (p.Asp318=) c.369C>T (p.Asp123=) c.1080C>T (p.Asp360=) c.306C>T (p.Asp102=) n.1307C>T c.486C>T (p.Asp162=) n.1301C>T | |
X | g.53255815G>C | CA413171030 | IQSEC2 | c.1143C>G (p.Asp381Glu) c.273C>G (p.Asp91Glu) c.984C>G (p.Asp328Glu) c.954C>G (p.Asp318Glu) c.369C>G (p.Asp123Glu) c.1080C>G (p.Asp360Glu) c.306C>G (p.Asp102Glu) n.1307C>G c.486C>G (p.Asp162Glu) n.1301C>G | |
X | g.53255815G>T | CA413171032 | IQSEC2 | c.1143C>A (p.Asp381Glu) c.273C>A (p.Asp91Glu) c.984C>A (p.Asp328Glu) c.954C>A (p.Asp318Glu) c.369C>A (p.Asp123Glu) c.1080C>A (p.Asp360Glu) c.306C>A (p.Asp102Glu) n.1307C>A c.486C>A (p.Asp162Glu) n.1301C>A | |
X | g.53255816T>A | CA413171035 | IQSEC2 | c.1142A>T (p.Asp381Val) c.272A>T (p.Asp91Val) c.983A>T (p.Asp328Val) c.953A>T (p.Asp318Val) c.368A>T (p.Asp123Val) c.1079A>T (p.Asp360Val) c.305A>T (p.Asp102Val) n.1306A>T c.485A>T (p.Asp162Val) n.1300A>T | |
X | g.53255816T>C | CA413171037 | IQSEC2 | c.1142A>G (p.Asp381Gly) c.272A>G (p.Asp91Gly) c.983A>G (p.Asp328Gly) c.953A>G (p.Asp318Gly) c.368A>G (p.Asp123Gly) c.1079A>G (p.Asp360Gly) c.305A>G (p.Asp102Gly) n.1306A>G c.485A>G (p.Asp162Gly) n.1300A>G | |
X | g.53255816T>G | CA413171040 | IQSEC2 | c.1142A>C (p.Asp381Ala) c.272A>C (p.Asp91Ala) c.983A>C (p.Asp328Ala) c.953A>C (p.Asp318Ala) c.368A>C (p.Asp123Ala) c.1079A>C (p.Asp360Ala) c.305A>C (p.Asp102Ala) n.1306A>C c.485A>C (p.Asp162Ala) n.1300A>C | |
X | g.53255817C>A | CA413171046 | IQSEC2 | c.1141G>T (p.Asp381Tyr) c.271G>T (p.Asp91Tyr) c.982G>T (p.Asp328Tyr) c.952G>T (p.Asp318Tyr) c.367G>T (p.Asp123Tyr) c.1078G>T (p.Asp360Tyr) c.304G>T (p.Asp102Tyr) n.1305G>T c.484G>T (p.Asp162Tyr) n.1299G>T | |
X | g.53255817C>G | CA413171049 | IQSEC2 | c.1141G>C (p.Asp381His) c.271G>C (p.Asp91His) c.982G>C (p.Asp328His) c.952G>C (p.Asp318His) c.367G>C (p.Asp123His) c.1078G>C (p.Asp360His) c.304G>C (p.Asp102His) n.1305G>C c.484G>C (p.Asp162His) n.1299G>C | |
X | g.53255817C>T | CA413171045 | IQSEC2 | c.1141G>A (p.Asp381Asn) c.271G>A (p.Asp91Asn) c.982G>A (p.Asp328Asn) c.952G>A (p.Asp318Asn) c.367G>A (p.Asp123Asn) c.1078G>A (p.Asp360Asn) c.304G>A (p.Asp102Asn) n.1305G>A c.484G>A (p.Asp162Asn) n.1299G>A | |
X | g.53255818T>A | CA516674338 | IQSEC2 | c.1140A>T (p.Thr380=) c.270A>T (p.Thr90=) c.981A>T (p.Thr327=) c.951A>T (p.Thr317=) c.366A>T (p.Thr122=) c.1077A>T (p.Thr359=) c.303A>T (p.Thr101=) n.1304A>T c.483A>T (p.Thr161=) n.1298A>T | COSMIC COSMIC COSMIC |
X | g.53255818T>C | CA516674340 | IQSEC2 | c.1140A>G (p.Thr380=) c.270A>G (p.Thr90=) c.981A>G (p.Thr327=) c.951A>G (p.Thr317=) c.366A>G (p.Thr122=) c.1077A>G (p.Thr359=) c.303A>G (p.Thr101=) n.1304A>G c.483A>G (p.Thr161=) n.1298A>G | |
X | g.53255818T>G | CA516674342 | IQSEC2 | c.1140A>C (p.Thr380=) c.270A>C (p.Thr90=) c.981A>C (p.Thr327=) c.951A>C (p.Thr317=) c.366A>C (p.Thr122=) c.1077A>C (p.Thr359=) c.303A>C (p.Thr101=) n.1304A>C c.483A>C (p.Thr161=) n.1298A>C | |
X | g.53255819G>A | CA10420120 | IQSEC2 | c.1139C>T (p.Thr380Ile) c.269C>T (p.Thr90Ile) c.980C>T (p.Thr327Ile) c.950C>T (p.Thr317Ile) c.365C>T (p.Thr122Ile) c.1076C>T (p.Thr359Ile) c.302C>T (p.Thr101Ile) n.1303C>T c.482C>T (p.Thr161Ile) n.1297C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255819G>C | CA413171052 | IQSEC2 | c.1139C>G (p.Thr380Arg) c.269C>G (p.Thr90Arg) c.980C>G (p.Thr327Arg) c.950C>G (p.Thr317Arg) c.365C>G (p.Thr122Arg) c.1076C>G (p.Thr359Arg) c.302C>G (p.Thr101Arg) n.1303C>G c.482C>G (p.Thr161Arg) n.1297C>G | |
X | g.53255819G= | CA2429777169 | IQSEC2 | c.1139C= (p.Thr380=) c.269C= (p.Thr90=) c.980C= (p.Thr327=) c.950C= (p.Thr317=) c.365C= (p.Thr122=) c.1076C= (p.Thr359=) c.302C= (p.Thr101=) n.1303C= c.482C= (p.Thr161=) n.1297C= | |
X | g.53255819G>T | CA413171054 | IQSEC2 | c.1139C>A (p.Thr380Lys) c.269C>A (p.Thr90Lys) c.980C>A (p.Thr327Lys) c.950C>A (p.Thr317Lys) c.365C>A (p.Thr122Lys) c.1076C>A (p.Thr359Lys) c.302C>A (p.Thr101Lys) n.1303C>A c.482C>A (p.Thr161Lys) n.1297C>A | |
X | g.53255820T>A | CA413171059 | IQSEC2 | c.1138A>T (p.Thr380Ser) c.268A>T (p.Thr90Ser) c.979A>T (p.Thr327Ser) c.949A>T (p.Thr317Ser) c.364A>T (p.Thr122Ser) c.1075A>T (p.Thr359Ser) c.301A>T (p.Thr101Ser) n.1302A>T c.481A>T (p.Thr161Ser) n.1296A>T | |
X | g.53255820T>C | CA413171061 | IQSEC2 | c.1138A>G (p.Thr380Ala) c.268A>G (p.Thr90Ala) c.979A>G (p.Thr327Ala) c.949A>G (p.Thr317Ala) c.364A>G (p.Thr122Ala) c.1075A>G (p.Thr359Ala) c.301A>G (p.Thr101Ala) n.1302A>G c.481A>G (p.Thr161Ala) n.1296A>G | |
X | g.53255820T>G | CA413171063 | IQSEC2 | c.1138A>C (p.Thr380Pro) c.268A>C (p.Thr90Pro) c.979A>C (p.Thr327Pro) c.949A>C (p.Thr317Pro) c.364A>C (p.Thr122Pro) c.1075A>C (p.Thr359Pro) c.301A>C (p.Thr101Pro) n.1302A>C c.481A>C (p.Thr161Pro) n.1296A>C | |
X | g.53255821G>A | CA516674346 | IQSEC2 | c.1137C>T (p.Ser379=) c.267C>T (p.Ser89=) c.978C>T (p.Ser326=) c.948C>T (p.Ser316=) c.363C>T (p.Ser121=) c.1074C>T (p.Ser358=) c.300C>T (p.Ser100=) n.1301C>T c.480C>T (p.Ser160=) n.1295C>T | |
X | g.53255821G>C | CA516674347 | IQSEC2 | c.1137C>G (p.Ser379=) c.267C>G (p.Ser89=) c.978C>G (p.Ser326=) c.948C>G (p.Ser316=) c.363C>G (p.Ser121=) c.1074C>G (p.Ser358=) c.300C>G (p.Ser100=) n.1301C>G c.480C>G (p.Ser160=) n.1295C>G | |
X | g.53255821G>T | CA516674348 | IQSEC2 | c.1137C>A (p.Ser379=) c.267C>A (p.Ser89=) c.978C>A (p.Ser326=) c.948C>A (p.Ser316=) c.363C>A (p.Ser121=) c.1074C>A (p.Ser358=) c.300C>A (p.Ser100=) n.1301C>A c.480C>A (p.Ser160=) n.1295C>A | |
X | g.53255822G>A | CA413171072 | IQSEC2 | c.1136C>T (p.Ser379Phe) c.266C>T (p.Ser89Phe) c.977C>T (p.Ser326Phe) c.947C>T (p.Ser316Phe) c.362C>T (p.Ser121Phe) c.1073C>T (p.Ser358Phe) c.299C>T (p.Ser100Phe) n.1300C>T c.479C>T (p.Ser160Phe) n.1294C>T | COSMIC COSMIC COSMIC |
X | g.53255822G>C | CA413171070 | IQSEC2 | c.1136C>G (p.Ser379Cys) c.266C>G (p.Ser89Cys) c.977C>G (p.Ser326Cys) c.947C>G (p.Ser316Cys) c.362C>G (p.Ser121Cys) c.1073C>G (p.Ser358Cys) c.299C>G (p.Ser100Cys) n.1300C>G c.479C>G (p.Ser160Cys) n.1294C>G | |
X | g.53255822G>T | CA413171067 | IQSEC2 | c.1136C>A (p.Ser379Tyr) c.266C>A (p.Ser89Tyr) c.977C>A (p.Ser326Tyr) c.947C>A (p.Ser316Tyr) c.362C>A (p.Ser121Tyr) c.1073C>A (p.Ser358Tyr) c.299C>A (p.Ser100Tyr) n.1300C>A c.479C>A (p.Ser160Tyr) n.1294C>A | |
X | g.53255823A>C | CA413171075 | IQSEC2 | c.1135T>G (p.Ser379Ala) c.265T>G (p.Ser89Ala) c.976T>G (p.Ser326Ala) c.946T>G (p.Ser316Ala) c.361T>G (p.Ser121Ala) c.1072T>G (p.Ser358Ala) c.298T>G (p.Ser100Ala) n.1299T>G c.478T>G (p.Ser160Ala) n.1293T>G | |
X | g.53255823A>G | CA413171077 | IQSEC2 | c.1135T>C (p.Ser379Pro) c.265T>C (p.Ser89Pro) c.976T>C (p.Ser326Pro) c.946T>C (p.Ser316Pro) c.361T>C (p.Ser121Pro) c.1072T>C (p.Ser358Pro) c.298T>C (p.Ser100Pro) n.1299T>C c.478T>C (p.Ser160Pro) n.1293T>C | |
X | g.53255823A>T | CA413171080 | IQSEC2 | c.1135T>A (p.Ser379Thr) c.265T>A (p.Ser89Thr) c.976T>A (p.Ser326Thr) c.946T>A (p.Ser316Thr) c.361T>A (p.Ser121Thr) c.1072T>A (p.Ser358Thr) c.298T>A (p.Ser100Thr) n.1299T>A c.478T>A (p.Ser160Thr) n.1293T>A | |
X | g.53255824G>A | CA516674350 | IQSEC2 | c.1134C>T (p.Leu378=) c.264C>T (p.Leu88=) c.975C>T (p.Leu325=) c.945C>T (p.Leu315=) c.360C>T (p.Leu120=) c.1071C>T (p.Leu357=) c.297C>T (p.Leu99=) n.1298C>T c.477C>T (p.Leu159=) n.1292C>T | dbSNP |
X | g.53255824G>C | CA516674351 | IQSEC2 | c.1134C>G (p.Leu378=) c.264C>G (p.Leu88=) c.975C>G (p.Leu325=) c.945C>G (p.Leu315=) c.360C>G (p.Leu120=) c.1071C>G (p.Leu357=) c.297C>G (p.Leu99=) n.1298C>G c.477C>G (p.Leu159=) n.1292C>G | |
X | g.53255824G= | CA2429777170 | IQSEC2 | c.1134C= (p.Leu378=) c.264C= (p.Leu88=) c.975C= (p.Leu325=) c.945C= (p.Leu315=) c.360C= (p.Leu120=) c.1071C= (p.Leu357=) c.297C= (p.Leu99=) n.1298C= c.477C= (p.Leu159=) n.1292C= | |
X | g.53255824G>T | CA516674353 | IQSEC2 | c.1134C>A (p.Leu378=) c.264C>A (p.Leu88=) c.975C>A (p.Leu325=) c.945C>A (p.Leu315=) c.360C>A (p.Leu120=) c.1071C>A (p.Leu357=) c.297C>A (p.Leu99=) n.1298C>A c.477C>A (p.Leu159=) n.1292C>A | |
X | g.53255825A>C | CA413171083 | IQSEC2 | c.1133T>G (p.Leu378Arg) c.263T>G (p.Leu88Arg) c.974T>G (p.Leu325Arg) c.944T>G (p.Leu315Arg) c.359T>G (p.Leu120Arg) c.1070T>G (p.Leu357Arg) c.296T>G (p.Leu99Arg) n.1297T>G c.476T>G (p.Leu159Arg) n.1291T>G | |
X | g.53255825A>G | CA413171085 | IQSEC2 | c.1133T>C (p.Leu378Pro) c.263T>C (p.Leu88Pro) c.974T>C (p.Leu325Pro) c.944T>C (p.Leu315Pro) c.359T>C (p.Leu120Pro) c.1070T>C (p.Leu357Pro) c.296T>C (p.Leu99Pro) n.1297T>C c.476T>C (p.Leu159Pro) n.1291T>C | |
X | g.53255825A>T | CA413171087 | IQSEC2 | c.1133T>A (p.Leu378His) c.263T>A (p.Leu88His) c.974T>A (p.Leu325His) c.944T>A (p.Leu315His) c.359T>A (p.Leu120His) c.1070T>A (p.Leu357His) c.296T>A (p.Leu99His) n.1297T>A c.476T>A (p.Leu159His) n.1291T>A | |
X | g.53255826G>A | CA413171089 | IQSEC2 | c.1132C>T (p.Leu378Phe) c.262C>T (p.Leu88Phe) c.973C>T (p.Leu325Phe) c.943C>T (p.Leu315Phe) c.358C>T (p.Leu120Phe) c.1069C>T (p.Leu357Phe) c.295C>T (p.Leu99Phe) n.1296C>T c.475C>T (p.Leu159Phe) n.1290C>T | |
X | g.53255826G>C | CA413171093 | IQSEC2 | c.1132C>G (p.Leu378Val) c.262C>G (p.Leu88Val) c.973C>G (p.Leu325Val) c.943C>G (p.Leu315Val) c.358C>G (p.Leu120Val) c.1069C>G (p.Leu357Val) c.295C>G (p.Leu99Val) n.1296C>G c.475C>G (p.Leu159Val) n.1290C>G | |
X | g.53255826G>T | CA413171091 | IQSEC2 | c.1132C>A (p.Leu378Ile) c.262C>A (p.Leu88Ile) c.973C>A (p.Leu325Ile) c.943C>A (p.Leu315Ile) c.358C>A (p.Leu120Ile) c.1069C>A (p.Leu357Ile) c.295C>A (p.Leu99Ile) n.1296C>A c.475C>A (p.Leu159Ile) n.1290C>A | |
X | g.53255827T>A | CA413171096 | IQSEC2 | c.1131A>T (p.Glu377Asp) c.261A>T (p.Glu87Asp) c.972A>T (p.Glu324Asp) c.942A>T (p.Glu314Asp) c.357A>T (p.Glu119Asp) c.1068A>T (p.Glu356Asp) c.294A>T (p.Glu98Asp) n.1295A>T c.474A>T (p.Glu158Asp) n.1289A>T | |
X | g.53255827T>C | CA10420121 | IQSEC2 | c.1131A>G (p.Glu377=) c.261A>G (p.Glu87=) c.972A>G (p.Glu324=) c.942A>G (p.Glu314=) c.357A>G (p.Glu119=) c.1068A>G (p.Glu356=) c.294A>G (p.Glu98=) n.1295A>G c.474A>G (p.Glu158=) n.1289A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255827T>G | CA413171098 | IQSEC2 | c.1131A>C (p.Glu377Asp) c.261A>C (p.Glu87Asp) c.972A>C (p.Glu324Asp) c.942A>C (p.Glu314Asp) c.357A>C (p.Glu119Asp) c.1068A>C (p.Glu356Asp) c.294A>C (p.Glu98Asp) n.1295A>C c.474A>C (p.Glu158Asp) n.1289A>C | |
X | g.53255827T= | CA2429777171 | IQSEC2 | c.1131A= (p.Glu377=) c.261A= (p.Glu87=) c.972A= (p.Glu324=) c.942A= (p.Glu314=) c.357A= (p.Glu119=) c.1068A= (p.Glu356=) c.294A= (p.Glu98=) n.1295A= c.474A= (p.Glu158=) n.1289A= | |
X | g.53255828T>A | CA413171102 | IQSEC2 | c.1130A>T (p.Glu377Val) c.260A>T (p.Glu87Val) c.971A>T (p.Glu324Val) c.941A>T (p.Glu314Val) c.356A>T (p.Glu119Val) c.1067A>T (p.Glu356Val) c.293A>T (p.Glu98Val) n.1294A>T c.473A>T (p.Glu158Val) n.1288A>T | |
X | g.53255828T>C | CA413171104 | IQSEC2 | c.1130A>G (p.Glu377Gly) c.260A>G (p.Glu87Gly) c.971A>G (p.Glu324Gly) c.941A>G (p.Glu314Gly) c.356A>G (p.Glu119Gly) c.1067A>G (p.Glu356Gly) c.293A>G (p.Glu98Gly) n.1294A>G c.473A>G (p.Glu158Gly) n.1288A>G | |
X | g.53255828T>G | CA413171107 | IQSEC2 | c.1130A>C (p.Glu377Ala) c.260A>C (p.Glu87Ala) c.971A>C (p.Glu324Ala) c.941A>C (p.Glu314Ala) c.356A>C (p.Glu119Ala) c.1067A>C (p.Glu356Ala) c.293A>C (p.Glu98Ala) n.1294A>C c.473A>C (p.Glu158Ala) n.1288A>C | |
X | g.53255829C>A | CA413171111 | IQSEC2 | c.1129G>T (p.Glu377Ter) c.259G>T (p.Glu87Ter) c.970G>T (p.Glu324Ter) c.940G>T (p.Glu314Ter) c.355G>T (p.Glu119Ter) c.1066G>T (p.Glu356Ter) c.292G>T (p.Glu98Ter) n.1293G>T c.472G>T (p.Glu158Ter) n.1287G>T | |
X | g.53255829C>G | CA413171113 | IQSEC2 | c.1129G>C (p.Glu377Gln) c.259G>C (p.Glu87Gln) c.970G>C (p.Glu324Gln) c.940G>C (p.Glu314Gln) c.355G>C (p.Glu119Gln) c.1066G>C (p.Glu356Gln) c.292G>C (p.Glu98Gln) n.1293G>C c.472G>C (p.Glu158Gln) n.1287G>C | |
X | g.53255829C>T | CA413171116 | IQSEC2 | c.1129G>A (p.Glu377Lys) c.259G>A (p.Glu87Lys) c.970G>A (p.Glu324Lys) c.940G>A (p.Glu314Lys) c.355G>A (p.Glu119Lys) c.1066G>A (p.Glu356Lys) c.292G>A (p.Glu98Lys) n.1293G>A c.472G>A (p.Glu158Lys) n.1287G>A | |
X | g.53255830A>C | CA413171119 | IQSEC2 | c.1128T>G (p.Tyr376Ter) c.258T>G (p.Tyr86Ter) c.969T>G (p.Tyr323Ter) c.939T>G (p.Tyr313Ter) c.354T>G (p.Tyr118Ter) c.1065T>G (p.Tyr355Ter) c.291T>G (p.Tyr97Ter) n.1292T>G c.471T>G (p.Tyr157Ter) n.1286T>G | |
X | g.53255830A>G | CA516674358 | IQSEC2 | c.1128T>C (p.Tyr376=) c.258T>C (p.Tyr86=) c.969T>C (p.Tyr323=) c.939T>C (p.Tyr313=) c.354T>C (p.Tyr118=) c.1065T>C (p.Tyr355=) c.291T>C (p.Tyr97=) n.1292T>C c.471T>C (p.Tyr157=) n.1286T>C | |
X | g.53255830A>T | CA413171121 | IQSEC2 | c.1128T>A (p.Tyr376Ter) c.258T>A (p.Tyr86Ter) c.969T>A (p.Tyr323Ter) c.939T>A (p.Tyr313Ter) c.354T>A (p.Tyr118Ter) c.1065T>A (p.Tyr355Ter) c.291T>A (p.Tyr97Ter) n.1292T>A c.471T>A (p.Tyr157Ter) n.1286T>A | |
X | g.53255831T>A | CA413171131 | IQSEC2 | c.1127A>T (p.Tyr376Phe) c.257A>T (p.Tyr86Phe) c.968A>T (p.Tyr323Phe) c.938A>T (p.Tyr313Phe) c.353A>T (p.Tyr118Phe) c.1064A>T (p.Tyr355Phe) c.290A>T (p.Tyr97Phe) n.1291A>T c.470A>T (p.Tyr157Phe) n.1285A>T | |
X | g.53255831T>C | CA413171129 | IQSEC2 | c.1127A>G (p.Tyr376Cys) c.257A>G (p.Tyr86Cys) c.968A>G (p.Tyr323Cys) c.938A>G (p.Tyr313Cys) c.353A>G (p.Tyr118Cys) c.1064A>G (p.Tyr355Cys) c.290A>G (p.Tyr97Cys) n.1291A>G c.470A>G (p.Tyr157Cys) n.1285A>G | ClinVar |
X | g.53255831T>G | CA413171126 | IQSEC2 | c.1127A>C (p.Tyr376Ser) c.257A>C (p.Tyr86Ser) c.968A>C (p.Tyr323Ser) c.938A>C (p.Tyr313Ser) c.353A>C (p.Tyr118Ser) c.1064A>C (p.Tyr355Ser) c.290A>C (p.Tyr97Ser) n.1291A>C c.470A>C (p.Tyr157Ser) n.1285A>C | |
X | g.53255832A>C | CA413171134 | IQSEC2 | c.1126T>G (p.Tyr376Asp) c.256T>G (p.Tyr86Asp) c.967T>G (p.Tyr323Asp) c.937T>G (p.Tyr313Asp) c.352T>G (p.Tyr118Asp) c.1063T>G (p.Tyr355Asp) c.289T>G (p.Tyr97Asp) n.1290T>G c.469T>G (p.Tyr157Asp) n.1284T>G | |
X | g.53255832A>G | CA413171137 | IQSEC2 | c.1126T>C (p.Tyr376His) c.256T>C (p.Tyr86His) c.967T>C (p.Tyr323His) c.937T>C (p.Tyr313His) c.352T>C (p.Tyr118His) c.1063T>C (p.Tyr355His) c.289T>C (p.Tyr97His) n.1290T>C c.469T>C (p.Tyr157His) n.1284T>C | |
X | g.53255832A>T | CA413171139 | IQSEC2 | c.1126T>A (p.Tyr376Asn) c.256T>A (p.Tyr86Asn) c.967T>A (p.Tyr323Asn) c.937T>A (p.Tyr313Asn) c.352T>A (p.Tyr118Asn) c.1063T>A (p.Tyr355Asn) c.289T>A (p.Tyr97Asn) n.1290T>A c.469T>A (p.Tyr157Asn) n.1284T>A | |
X | g.53255833G>A | CA516674361 | IQSEC2 | c.1125C>T (p.Ser375=) c.255C>T (p.Ser85=) c.966C>T (p.Ser322=) c.936C>T (p.Ser312=) c.351C>T (p.Ser117=) c.1062C>T (p.Ser354=) c.288C>T (p.Ser96=) n.1289C>T c.468C>T (p.Ser156=) n.1283C>T | |
X | g.53255833G>C | CA413171142 | IQSEC2 | c.1125C>G (p.Ser375Arg) c.255C>G (p.Ser85Arg) c.966C>G (p.Ser322Arg) c.936C>G (p.Ser312Arg) c.351C>G (p.Ser117Arg) c.1062C>G (p.Ser354Arg) c.288C>G (p.Ser96Arg) n.1289C>G c.468C>G (p.Ser156Arg) n.1283C>G | |
X | g.53255833G>T | CA413171145 | IQSEC2 | c.1125C>A (p.Ser375Arg) c.255C>A (p.Ser85Arg) c.966C>A (p.Ser322Arg) c.936C>A (p.Ser312Arg) c.351C>A (p.Ser117Arg) c.1062C>A (p.Ser354Arg) c.288C>A (p.Ser96Arg) n.1289C>A c.468C>A (p.Ser156Arg) n.1283C>A | |
X | g.53255834C>A | CA413171148 | IQSEC2 | c.1124G>T (p.Ser375Ile) c.254G>T (p.Ser85Ile) c.965G>T (p.Ser322Ile) c.935G>T (p.Ser312Ile) c.350G>T (p.Ser117Ile) c.1061G>T (p.Ser354Ile) c.287G>T (p.Ser96Ile) n.1288G>T c.467G>T (p.Ser156Ile) n.1282G>T | |
X | g.53255834C= | CA2429777172 | IQSEC2 | c.1124G= (p.Ser375=) c.254G= (p.Ser85=) c.965G= (p.Ser322=) c.935G= (p.Ser312=) c.350G= (p.Ser117=) c.1061G= (p.Ser354=) c.287G= (p.Ser96=) n.1288G= c.467G= (p.Ser156=) n.1282G= | |
X | g.53255834C>G | CA413171151 | IQSEC2 | c.1124G>C (p.Ser375Thr) c.254G>C (p.Ser85Thr) c.965G>C (p.Ser322Thr) c.935G>C (p.Ser312Thr) c.350G>C (p.Ser117Thr) c.1061G>C (p.Ser354Thr) c.287G>C (p.Ser96Thr) n.1288G>C c.467G>C (p.Ser156Thr) n.1282G>C | |
X | g.53255834C>T | CA10420122 | IQSEC2 | c.1124G>A (p.Ser375Asn) c.254G>A (p.Ser85Asn) c.965G>A (p.Ser322Asn) c.935G>A (p.Ser312Asn) c.350G>A (p.Ser117Asn) c.1061G>A (p.Ser354Asn) c.287G>A (p.Ser96Asn) n.1288G>A c.467G>A (p.Ser156Asn) n.1282G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255835T>A | CA413171157 | IQSEC2 | c.1123A>T (p.Ser375Cys) c.253A>T (p.Ser85Cys) c.964A>T (p.Ser322Cys) c.934A>T (p.Ser312Cys) c.349A>T (p.Ser117Cys) c.1060A>T (p.Ser354Cys) c.286A>T (p.Ser96Cys) n.1287A>T c.466A>T (p.Ser156Cys) n.1281A>T | |
X | g.53255835T>C | CA413171159 | IQSEC2 | c.1123A>G (p.Ser375Gly) c.253A>G (p.Ser85Gly) c.964A>G (p.Ser322Gly) c.934A>G (p.Ser312Gly) c.349A>G (p.Ser117Gly) c.1060A>G (p.Ser354Gly) c.286A>G (p.Ser96Gly) n.1287A>G c.466A>G (p.Ser156Gly) n.1281A>G | |
X | g.53255835T>G | CA413171161 | IQSEC2 | c.1123A>C (p.Ser375Arg) c.253A>C (p.Ser85Arg) c.964A>C (p.Ser322Arg) c.934A>C (p.Ser312Arg) c.349A>C (p.Ser117Arg) c.1060A>C (p.Ser354Arg) c.286A>C (p.Ser96Arg) n.1287A>C c.466A>C (p.Ser156Arg) n.1281A>C | |
X | g.53255836G>A | CA516674362 | IQSEC2 | c.1122C>T (p.Asp374=) c.252C>T (p.Asp84=) c.963C>T (p.Asp321=) c.933C>T (p.Asp311=) c.348C>T (p.Asp116=) c.1059C>T (p.Asp353=) c.285C>T (p.Asp95=) n.1286C>T c.465C>T (p.Asp155=) n.1280C>T | |
X | g.53255836G>C | CA413171164 | IQSEC2 | c.1122C>G (p.Asp374Glu) c.252C>G (p.Asp84Glu) c.963C>G (p.Asp321Glu) c.933C>G (p.Asp311Glu) c.348C>G (p.Asp116Glu) c.1059C>G (p.Asp353Glu) c.285C>G (p.Asp95Glu) n.1286C>G c.465C>G (p.Asp155Glu) n.1280C>G | |
X | g.53255836G>T | CA413171166 | IQSEC2 | c.1122C>A (p.Asp374Glu) c.252C>A (p.Asp84Glu) c.963C>A (p.Asp321Glu) c.933C>A (p.Asp311Glu) c.348C>A (p.Asp116Glu) c.1059C>A (p.Asp353Glu) c.285C>A (p.Asp95Glu) n.1286C>A c.465C>A (p.Asp155Glu) n.1280C>A | |
X | g.53255837T>A | CA413171174 | IQSEC2 | c.1121A>T (p.Asp374Val) c.251A>T (p.Asp84Val) c.962A>T (p.Asp321Val) c.932A>T (p.Asp311Val) c.347A>T (p.Asp116Val) c.1058A>T (p.Asp353Val) c.284A>T (p.Asp95Val) n.1285A>T c.464A>T (p.Asp155Val) n.1279A>T | |
X | g.53255837T>C | CA413171177 | IQSEC2 | c.1121A>G (p.Asp374Gly) c.251A>G (p.Asp84Gly) c.962A>G (p.Asp321Gly) c.932A>G (p.Asp311Gly) c.347A>G (p.Asp116Gly) c.1058A>G (p.Asp353Gly) c.284A>G (p.Asp95Gly) n.1285A>G c.464A>G (p.Asp155Gly) n.1279A>G | |
X | g.53255837T>G | CA413171171 | IQSEC2 | c.1121A>C (p.Asp374Ala) c.251A>C (p.Asp84Ala) c.962A>C (p.Asp321Ala) c.932A>C (p.Asp311Ala) c.347A>C (p.Asp116Ala) c.1058A>C (p.Asp353Ala) c.284A>C (p.Asp95Ala) n.1285A>C c.464A>C (p.Asp155Ala) n.1279A>C | |
X | g.53255838C>A | CA413171180 | IQSEC2 | c.1120G>T (p.Asp374Tyr) c.250G>T (p.Asp84Tyr) c.961G>T (p.Asp321Tyr) c.931G>T (p.Asp311Tyr) c.346G>T (p.Asp116Tyr) c.1057G>T (p.Asp353Tyr) c.283G>T (p.Asp95Tyr) n.1284G>T c.463G>T (p.Asp155Tyr) n.1278G>T | |
X | g.53255838C>G | CA413171183 | IQSEC2 | c.1120G>C (p.Asp374His) c.250G>C (p.Asp84His) c.961G>C (p.Asp321His) c.931G>C (p.Asp311His) c.346G>C (p.Asp116His) c.1057G>C (p.Asp353His) c.283G>C (p.Asp95His) n.1284G>C c.463G>C (p.Asp155His) n.1278G>C | |
X | g.53255838C>T | CA413171185 | IQSEC2 | c.1120G>A (p.Asp374Asn) c.250G>A (p.Asp84Asn) c.961G>A (p.Asp321Asn) c.931G>A (p.Asp311Asn) c.346G>A (p.Asp116Asn) c.1057G>A (p.Asp353Asn) c.283G>A (p.Asp95Asn) n.1284G>A c.463G>A (p.Asp155Asn) n.1278G>A | |
X | g.53255839C>A | CA516674365 | IQSEC2 | c.1119G>T (p.Ser373=) c.249G>T (p.Ser83=) c.960G>T (p.Ser320=) c.930G>T (p.Ser310=) c.345G>T (p.Ser115=) c.1056G>T (p.Ser352=) c.282G>T (p.Ser94=) n.1283G>T c.462G>T (p.Ser154=) n.1277G>T | |
X | g.53255839C= | CA2429777173 | IQSEC2 | c.1119G= (p.Ser373=) c.249G= (p.Ser83=) c.960G= (p.Ser320=) c.930G= (p.Ser310=) c.345G= (p.Ser115=) c.1056G= (p.Ser352=) c.282G= (p.Ser94=) n.1283G= c.462G= (p.Ser154=) n.1277G= | |
X | g.53255839C>G | CA516674366 | IQSEC2 | c.1119G>C (p.Ser373=) c.249G>C (p.Ser83=) c.960G>C (p.Ser320=) c.930G>C (p.Ser310=) c.345G>C (p.Ser115=) c.1056G>C (p.Ser352=) c.282G>C (p.Ser94=) n.1283G>C c.462G>C (p.Ser154=) n.1277G>C | ClinVar dbSNP |
X | g.53255839C>T | CA10420123 | IQSEC2 | c.1119G>A (p.Ser373=) c.249G>A (p.Ser83=) c.960G>A (p.Ser320=) c.930G>A (p.Ser310=) c.345G>A (p.Ser115=) c.1056G>A (p.Ser352=) c.282G>A (p.Ser94=) n.1283G>A c.462G>A (p.Ser154=) n.1277G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255840G>A | CA413171196 | IQSEC2 | c.1118C>T (p.Ser373Leu) c.248C>T (p.Ser83Leu) c.959C>T (p.Ser320Leu) c.929C>T (p.Ser310Leu) c.344C>T (p.Ser115Leu) c.1055C>T (p.Ser352Leu) c.281C>T (p.Ser94Leu) n.1282C>T c.461C>T (p.Ser154Leu) n.1276C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255840G>C | CA413171193 | IQSEC2 | c.1118C>G (p.Ser373Trp) c.248C>G (p.Ser83Trp) c.959C>G (p.Ser320Trp) c.929C>G (p.Ser310Trp) c.344C>G (p.Ser115Trp) c.1055C>G (p.Ser352Trp) c.281C>G (p.Ser94Trp) n.1282C>G c.461C>G (p.Ser154Trp) n.1276C>G | |
X | g.53255840G= | CA2429777174 | IQSEC2 | c.1118C= (p.Ser373=) c.248C= (p.Ser83=) c.959C= (p.Ser320=) c.929C= (p.Ser310=) c.344C= (p.Ser115=) c.1055C= (p.Ser352=) c.281C= (p.Ser94=) n.1282C= c.461C= (p.Ser154=) n.1276C= | |
X | g.53255840G>T | CA413171189 | IQSEC2 | c.1118C>A (p.Ser373Ter) c.248C>A (p.Ser83Ter) c.959C>A (p.Ser320Ter) c.929C>A (p.Ser310Ter) c.344C>A (p.Ser115Ter) c.1055C>A (p.Ser352Ter) c.281C>A (p.Ser94Ter) n.1282C>A c.461C>A (p.Ser154Ter) n.1276C>A | |
X | g.53255841A>C | CA413171199 | IQSEC2 | c.1117T>G (p.Ser373Ala) c.247T>G (p.Ser83Ala) c.958T>G (p.Ser320Ala) c.928T>G (p.Ser310Ala) c.343T>G (p.Ser115Ala) c.1054T>G (p.Ser352Ala) c.280T>G (p.Ser94Ala) n.1281T>G c.460T>G (p.Ser154Ala) n.1275T>G | |
X | g.53255841A>G | CA413171201 | IQSEC2 | c.1117T>C (p.Ser373Pro) c.247T>C (p.Ser83Pro) c.958T>C (p.Ser320Pro) c.928T>C (p.Ser310Pro) c.343T>C (p.Ser115Pro) c.1054T>C (p.Ser352Pro) c.280T>C (p.Ser94Pro) n.1281T>C c.460T>C (p.Ser154Pro) n.1275T>C | |
X | g.53255841A>T | CA413171203 | IQSEC2 | c.1117T>A (p.Ser373Thr) c.247T>A (p.Ser83Thr) c.958T>A (p.Ser320Thr) c.928T>A (p.Ser310Thr) c.343T>A (p.Ser115Thr) c.1054T>A (p.Ser352Thr) c.280T>A (p.Ser94Thr) n.1281T>A c.460T>A (p.Ser154Thr) n.1275T>A | |
X | g.53255842T>A | CA516674370 | IQSEC2 | c.1116A>T (p.Leu372=) c.246A>T (p.Leu82=) c.957A>T (p.Leu319=) c.927A>T (p.Leu309=) c.342A>T (p.Leu114=) c.1053A>T (p.Leu351=) c.279A>T (p.Leu93=) n.1280A>T c.459A>T (p.Leu153=) n.1274A>T | |
X | g.53255842T>C | CA10420124 | IQSEC2 | c.1116A>G (p.Leu372=) c.246A>G (p.Leu82=) c.957A>G (p.Leu319=) c.927A>G (p.Leu309=) c.342A>G (p.Leu114=) c.1053A>G (p.Leu351=) c.279A>G (p.Leu93=) n.1280A>G c.459A>G (p.Leu153=) n.1274A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53255842T>G | CA516674371 | IQSEC2 | c.1116A>C (p.Leu372=) c.246A>C (p.Leu82=) c.957A>C (p.Leu319=) c.927A>C (p.Leu309=) c.342A>C (p.Leu114=) c.1053A>C (p.Leu351=) c.279A>C (p.Leu93=) n.1280A>C c.459A>C (p.Leu153=) n.1274A>C | |
X | g.53255842T= | CA2429777175 | IQSEC2 | c.1116A= (p.Leu372=) c.246A= (p.Leu82=) c.957A= (p.Leu319=) c.927A= (p.Leu309=) c.342A= (p.Leu114=) c.1053A= (p.Leu351=) c.279A= (p.Leu93=) n.1280A= c.459A= (p.Leu153=) n.1274A= | |
X | g.53255842_53255843delinsTA | CA2429777176 | IQSEC2 | c.1115_1116delinsTA (p.Leu372=) c.245_246delinsTA (p.Leu82=) c.956_957delinsTA (p.Leu319=) c.926_927delinsTA (p.Leu309=) c.341_342delinsTA (p.Leu114=) c.1052_1053delinsTA (p.Leu351=) c.278_279delinsTA (p.Leu93=) n.1279_1280delinsTA c.458_459delinsTA (p.Leu153=) n.1273_1274delinsTA | |
X | g.53255843del | CA1139667575 | IQSEC2 | c.1115del (p.Leu372HisfsTer28) c.245del (p.Leu82HisfsTer28) c.956del (p.Leu319HisfsTer28) c.926del (p.Leu309HisfsTer28) c.341del (p.Leu114HisfsTer28) c.1052del (p.Leu351HisfsTer28) c.278del (p.Leu93HisfsTer28) n.1279del c.458del (p.Leu153HisfsTer28) n.1273del | ClinVar dbSNP |
X | g.53255843A>C | CA413171206 | IQSEC2 | c.1115T>G (p.Leu372Arg) c.245T>G (p.Leu82Arg) c.956T>G (p.Leu319Arg) c.926T>G (p.Leu309Arg) c.341T>G (p.Leu114Arg) c.1052T>G (p.Leu351Arg) c.278T>G (p.Leu93Arg) n.1279T>G c.458T>G (p.Leu153Arg) n.1273T>G | |
X | g.53255843A>G | CA413171207 | IQSEC2 | c.1115T>C (p.Leu372Pro) c.245T>C (p.Leu82Pro) c.956T>C (p.Leu319Pro) c.926T>C (p.Leu309Pro) c.341T>C (p.Leu114Pro) c.1052T>C (p.Leu351Pro) c.278T>C (p.Leu93Pro) n.1279T>C c.458T>C (p.Leu153Pro) n.1273T>C | |
X | g.53255843A>T | CA413171209 | IQSEC2 | c.1115T>A (p.Leu372Gln) c.245T>A (p.Leu82Gln) c.956T>A (p.Leu319Gln) c.926T>A (p.Leu309Gln) c.341T>A (p.Leu114Gln) c.1052T>A (p.Leu351Gln) c.278T>A (p.Leu93Gln) n.1279T>A c.458T>A (p.Leu153Gln) n.1273T>A | |
X | g.53255844G>A | CA516674372 | IQSEC2 | c.1114C>T (p.Leu372=) c.244C>T (p.Leu82=) c.955C>T (p.Leu319=) c.925C>T (p.Leu309=) c.340C>T (p.Leu114=) c.1051C>T (p.Leu351=) c.277C>T (p.Leu93=) n.1278C>T c.457C>T (p.Leu153=) n.1272C>T | gnomAD v4 |
X | g.53255844G>C | CA413171216 | IQSEC2 | c.1114C>G (p.Leu372Val) c.244C>G (p.Leu82Val) c.955C>G (p.Leu319Val) c.925C>G (p.Leu309Val) c.340C>G (p.Leu114Val) c.1051C>G (p.Leu351Val) c.277C>G (p.Leu93Val) n.1278C>G c.457C>G (p.Leu153Val) n.1272C>G | |
X | g.53255844G>T | CA413171213 | IQSEC2 | c.1114C>A (p.Leu372Ile) c.244C>A (p.Leu82Ile) c.955C>A (p.Leu319Ile) c.925C>A (p.Leu309Ile) c.340C>A (p.Leu114Ile) c.1051C>A (p.Leu351Ile) c.277C>A (p.Leu93Ile) n.1278C>A c.457C>A (p.Leu153Ile) n.1272C>A | |
X | g.53255845G>A | CA516674373 | IQSEC2 | c.1113C>T (p.Ala371=) c.243C>T (p.Ala81=) c.954C>T (p.Ala318=) c.924C>T (p.Ala308=) c.339C>T (p.Ala113=) c.1050C>T (p.Ala350=) c.276C>T (p.Ala92=) n.1277C>T c.456C>T (p.Ala152=) n.1271C>T | |
X | g.53255845G>C | CA516674374 | IQSEC2 | c.1113C>G (p.Ala371=) c.243C>G (p.Ala81=) c.954C>G (p.Ala318=) c.924C>G (p.Ala308=) c.339C>G (p.Ala113=) c.1050C>G (p.Ala350=) c.276C>G (p.Ala92=) n.1277C>G c.456C>G (p.Ala152=) n.1271C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.53255845G= | CA2429777177 | IQSEC2 | c.1113C= (p.Ala371=) c.243C= (p.Ala81=) c.954C= (p.Ala318=) c.924C= (p.Ala308=) c.339C= (p.Ala113=) c.1050C= (p.Ala350=) c.276C= (p.Ala92=) n.1277C= c.456C= (p.Ala152=) n.1271C= | |
X | g.53255845G>T | CA516674376 | IQSEC2 | c.1113C>A (p.Ala371=) c.243C>A (p.Ala81=) c.954C>A (p.Ala318=) c.924C>A (p.Ala308=) c.339C>A (p.Ala113=) c.1050C>A (p.Ala350=) c.276C>A (p.Ala92=) n.1277C>A c.456C>A (p.Ala152=) n.1271C>A | |
X | g.53255846G>A | CA413171221 | IQSEC2 | c.1112C>T (p.Ala371Val) c.242C>T (p.Ala81Val) c.953C>T (p.Ala318Val) c.923C>T (p.Ala308Val) c.338C>T (p.Ala113Val) c.1049C>T (p.Ala350Val) c.275C>T (p.Ala92Val) n.1276C>T c.455C>T (p.Ala152Val) n.1270C>T | |
X | g.53255846G>C | CA413171226 | IQSEC2 | c.1112C>G (p.Ala371Gly) c.242C>G (p.Ala81Gly) c.953C>G (p.Ala318Gly) c.923C>G (p.Ala308Gly) c.338C>G (p.Ala113Gly) c.1049C>G (p.Ala350Gly) c.275C>G (p.Ala92Gly) n.1276C>G c.455C>G (p.Ala152Gly) n.1270C>G | |
X | g.53255846G>T | CA413171223 | IQSEC2 | c.1112C>A (p.Ala371Asp) c.242C>A (p.Ala81Asp) c.953C>A (p.Ala318Asp) c.923C>A (p.Ala308Asp) c.338C>A (p.Ala113Asp) c.1049C>A (p.Ala350Asp) c.275C>A (p.Ala92Asp) n.1276C>A c.455C>A (p.Ala152Asp) n.1270C>A | |
X | g.53255847C>A | CA413171228 | IQSEC2 | c.1111G>T (p.Ala371Ser) c.241G>T (p.Ala81Ser) c.952G>T (p.Ala318Ser) c.922G>T (p.Ala308Ser) c.337G>T (p.Ala113Ser) c.1048G>T (p.Ala350Ser) c.274G>T (p.Ala92Ser) n.1275G>T c.454G>T (p.Ala152Ser) n.1269G>T | ClinVar |
X | g.53255847C= | CA2429777178 | IQSEC2 | c.1111G= (p.Ala371=) c.241G= (p.Ala81=) c.952G= (p.Ala318=) c.922G= (p.Ala308=) c.337G= (p.Ala113=) c.1048G= (p.Ala350=) c.274G= (p.Ala92=) n.1275G= c.454G= (p.Ala152=) n.1269G= | |
X | g.53255847C>G | CA413171231 | IQSEC2 | c.1111G>C (p.Ala371Pro) c.241G>C (p.Ala81Pro) c.952G>C (p.Ala318Pro) c.922G>C (p.Ala308Pro) c.337G>C (p.Ala113Pro) c.1048G>C (p.Ala350Pro) c.274G>C (p.Ala92Pro) n.1275G>C c.454G>C (p.Ala152Pro) n.1269G>C | |
X | g.53255847C>T | CA10420125 | IQSEC2 | c.1111G>A (p.Ala371Thr) c.241G>A (p.Ala81Thr) c.952G>A (p.Ala318Thr) c.922G>A (p.Ala308Thr) c.337G>A (p.Ala113Thr) c.1048G>A (p.Ala350Thr) c.274G>A (p.Ala92Thr) n.1275G>A c.454G>A (p.Ala152Thr) n.1269G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255848C>A | CA413171232 | IQSEC2 | c.1110G>T (p.Lys370Asn) c.240G>T (p.Lys80Asn) c.951G>T (p.Lys317Asn) c.921G>T (p.Lys307Asn) c.336G>T (p.Lys112Asn) c.1047G>T (p.Lys349Asn) c.273G>T (p.Lys91Asn) n.1274G>T c.453G>T (p.Lys151Asn) n.1268G>T | |
X | g.53255848C>G | CA413171233 | IQSEC2 | c.1110G>C (p.Lys370Asn) c.240G>C (p.Lys80Asn) c.951G>C (p.Lys317Asn) c.921G>C (p.Lys307Asn) c.336G>C (p.Lys112Asn) c.1047G>C (p.Lys349Asn) c.273G>C (p.Lys91Asn) n.1274G>C c.453G>C (p.Lys151Asn) n.1268G>C | |
X | g.53255848C>T | CA516674377 | IQSEC2 | c.1110G>A (p.Lys370=) c.240G>A (p.Lys80=) c.951G>A (p.Lys317=) c.921G>A (p.Lys307=) c.336G>A (p.Lys112=) c.1047G>A (p.Lys349=) c.273G>A (p.Lys91=) n.1274G>A c.453G>A (p.Lys151=) n.1268G>A | |
X | g.53255849T>A | CA413171234 | IQSEC2 | c.1109A>T (p.Lys370Met) c.239A>T (p.Lys80Met) c.950A>T (p.Lys317Met) c.920A>T (p.Lys307Met) c.335A>T (p.Lys112Met) c.1046A>T (p.Lys349Met) c.272A>T (p.Lys91Met) n.1273A>T c.452A>T (p.Lys151Met) n.1267A>T | |
X | g.53255849T>C | CA413171240 | IQSEC2 | c.1109A>G (p.Lys370Arg) c.239A>G (p.Lys80Arg) c.950A>G (p.Lys317Arg) c.920A>G (p.Lys307Arg) c.335A>G (p.Lys112Arg) c.1046A>G (p.Lys349Arg) c.272A>G (p.Lys91Arg) n.1273A>G c.452A>G (p.Lys151Arg) n.1267A>G | |
X | g.53255849T>G | CA413171237 | IQSEC2 | c.1109A>C (p.Lys370Thr) c.239A>C (p.Lys80Thr) c.950A>C (p.Lys317Thr) c.920A>C (p.Lys307Thr) c.335A>C (p.Lys112Thr) c.1046A>C (p.Lys349Thr) c.272A>C (p.Lys91Thr) n.1273A>C c.452A>C (p.Lys151Thr) n.1267A>C | |
X | g.53255850T>A | CA413171242 | IQSEC2 | c.1108A>T (p.Lys370Ter) c.238A>T (p.Lys80Ter) c.949A>T (p.Lys317Ter) c.919A>T (p.Lys307Ter) c.334A>T (p.Lys112Ter) c.1045A>T (p.Lys349Ter) c.271A>T (p.Lys91Ter) n.1272A>T c.451A>T (p.Lys151Ter) n.1266A>T | |
X | g.53255850T>C | CA413171249 | IQSEC2 | c.1108A>G (p.Lys370Glu) c.238A>G (p.Lys80Glu) c.949A>G (p.Lys317Glu) c.919A>G (p.Lys307Glu) c.334A>G (p.Lys112Glu) c.1045A>G (p.Lys349Glu) c.271A>G (p.Lys91Glu) n.1272A>G c.451A>G (p.Lys151Glu) n.1266A>G | |
X | g.53255850T>G | CA413171245 | IQSEC2 | c.1108A>C (p.Lys370Gln) c.238A>C (p.Lys80Gln) c.949A>C (p.Lys317Gln) c.919A>C (p.Lys307Gln) c.334A>C (p.Lys112Gln) c.1045A>C (p.Lys349Gln) c.271A>C (p.Lys91Gln) n.1272A>C c.451A>C (p.Lys151Gln) n.1266A>C | |
X | g.53255851G>A | CA516674382 | IQSEC2 | c.1107C>T (p.Ser369=) c.237C>T (p.Ser79=) c.948C>T (p.Ser316=) c.918C>T (p.Ser306=) c.333C>T (p.Ser111=) c.1044C>T (p.Ser348=) c.270C>T (p.Ser90=) n.1271C>T c.450C>T (p.Ser150=) n.1265C>T | gnomAD v4 |
X | g.53255851G>C | CA516674383 | IQSEC2 | c.1107C>G (p.Ser369=) c.237C>G (p.Ser79=) c.948C>G (p.Ser316=) c.918C>G (p.Ser306=) c.333C>G (p.Ser111=) c.1044C>G (p.Ser348=) c.270C>G (p.Ser90=) n.1271C>G c.450C>G (p.Ser150=) n.1265C>G | |
X | g.53255851G>T | CA516674384 | IQSEC2 | c.1107C>A (p.Ser369=) c.237C>A (p.Ser79=) c.948C>A (p.Ser316=) c.918C>A (p.Ser306=) c.333C>A (p.Ser111=) c.1044C>A (p.Ser348=) c.270C>A (p.Ser90=) n.1271C>A c.450C>A (p.Ser150=) n.1265C>A | |
X | g.53255852G>A | CA413171252 | IQSEC2 | c.1106C>T (p.Ser369Phe) c.236C>T (p.Ser79Phe) c.947C>T (p.Ser316Phe) c.917C>T (p.Ser306Phe) c.332C>T (p.Ser111Phe) c.1043C>T (p.Ser348Phe) c.269C>T (p.Ser90Phe) n.1270C>T c.449C>T (p.Ser150Phe) n.1264C>T | |
X | g.53255852G>C | CA413171259 | IQSEC2 | c.1106C>G (p.Ser369Cys) c.236C>G (p.Ser79Cys) c.947C>G (p.Ser316Cys) c.917C>G (p.Ser306Cys) c.332C>G (p.Ser111Cys) c.1043C>G (p.Ser348Cys) c.269C>G (p.Ser90Cys) n.1270C>G c.449C>G (p.Ser150Cys) n.1264C>G | |
X | g.53255852G>T | CA413171255 | IQSEC2 | c.1106C>A (p.Ser369Tyr) c.236C>A (p.Ser79Tyr) c.947C>A (p.Ser316Tyr) c.917C>A (p.Ser306Tyr) c.332C>A (p.Ser111Tyr) c.1043C>A (p.Ser348Tyr) c.269C>A (p.Ser90Tyr) n.1270C>A c.449C>A (p.Ser150Tyr) n.1264C>A | |
X | g.53255853A>C | CA413171261 | IQSEC2 | c.1105T>G (p.Ser369Ala) c.235T>G (p.Ser79Ala) c.946T>G (p.Ser316Ala) c.916T>G (p.Ser306Ala) c.331T>G (p.Ser111Ala) c.1042T>G (p.Ser348Ala) c.268T>G (p.Ser90Ala) n.1269T>G c.448T>G (p.Ser150Ala) n.1263T>G | |
X | g.53255853A>G | CA413171264 | IQSEC2 | c.1105T>C (p.Ser369Pro) c.235T>C (p.Ser79Pro) c.946T>C (p.Ser316Pro) c.916T>C (p.Ser306Pro) c.331T>C (p.Ser111Pro) c.1042T>C (p.Ser348Pro) c.268T>C (p.Ser90Pro) n.1269T>C c.448T>C (p.Ser150Pro) n.1263T>C | |
X | g.53255853A>T | CA413171263 | IQSEC2 | c.1105T>A (p.Ser369Thr) c.235T>A (p.Ser79Thr) c.946T>A (p.Ser316Thr) c.916T>A (p.Ser306Thr) c.331T>A (p.Ser111Thr) c.1042T>A (p.Ser348Thr) c.268T>A (p.Ser90Thr) n.1269T>A c.448T>A (p.Ser150Thr) n.1263T>A | |
X | g.53255854G>A | CA516674386 | IQSEC2 | c.1104C>T (p.Arg368=) c.234C>T (p.Arg78=) c.945C>T (p.Arg315=) c.915C>T (p.Arg305=) c.330C>T (p.Arg110=) c.1041C>T (p.Arg347=) c.267C>T (p.Arg89=) n.1268C>T c.447C>T (p.Arg149=) n.1262C>T | |
X | g.53255854G>C | CA516674387 | IQSEC2 | c.1104C>G (p.Arg368=) c.234C>G (p.Arg78=) c.945C>G (p.Arg315=) c.915C>G (p.Arg305=) c.330C>G (p.Arg110=) c.1041C>G (p.Arg347=) c.267C>G (p.Arg89=) n.1268C>G c.447C>G (p.Arg149=) n.1262C>G | |
X | g.53255854G>T | CA516674388 | IQSEC2 | c.1104C>A (p.Arg368=) c.234C>A (p.Arg78=) c.945C>A (p.Arg315=) c.915C>A (p.Arg305=) c.330C>A (p.Arg110=) c.1041C>A (p.Arg347=) c.267C>A (p.Arg89=) n.1268C>A c.447C>A (p.Arg149=) n.1262C>A | |
X | g.53255855C>A | CA413171266 | IQSEC2 | c.1103G>T (p.Arg368Leu) c.233G>T (p.Arg78Leu) c.944G>T (p.Arg315Leu) c.914G>T (p.Arg305Leu) c.329G>T (p.Arg110Leu) c.1040G>T (p.Arg347Leu) c.266G>T (p.Arg89Leu) n.1267G>T c.446G>T (p.Arg149Leu) n.1261G>T | |
X | g.53255855C= | CA2429777179 | IQSEC2 | c.1103G= (p.Arg368=) c.233G= (p.Arg78=) c.944G= (p.Arg315=) c.914G= (p.Arg305=) c.329G= (p.Arg110=) c.1040G= (p.Arg347=) c.266G= (p.Arg89=) n.1267G= c.446G= (p.Arg149=) n.1261G= | |
X | g.53255855C>G | CA413171269 | IQSEC2 | c.1103G>C (p.Arg368Pro) c.233G>C (p.Arg78Pro) c.944G>C (p.Arg315Pro) c.914G>C (p.Arg305Pro) c.329G>C (p.Arg110Pro) c.1040G>C (p.Arg347Pro) c.266G>C (p.Arg89Pro) n.1267G>C c.446G>C (p.Arg149Pro) n.1261G>C | |
X | g.53255855C>T | CA10420126 | IQSEC2 | c.1103G>A (p.Arg368His) c.233G>A (p.Arg78His) c.944G>A (p.Arg315His) c.914G>A (p.Arg305His) c.329G>A (p.Arg110His) c.1040G>A (p.Arg347His) c.266G>A (p.Arg89His) n.1267G>A c.446G>A (p.Arg149His) n.1261G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255856G>A | CA413171275 | IQSEC2 | c.1102C>T (p.Arg368Cys) c.232C>T (p.Arg78Cys) c.943C>T (p.Arg315Cys) c.913C>T (p.Arg305Cys) c.328C>T (p.Arg110Cys) c.1039C>T (p.Arg347Cys) c.265C>T (p.Arg89Cys) n.1266C>T c.445C>T (p.Arg149Cys) n.1260C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255856G>C | CA413171278 | IQSEC2 | c.1102C>G (p.Arg368Gly) c.232C>G (p.Arg78Gly) c.943C>G (p.Arg315Gly) c.913C>G (p.Arg305Gly) c.328C>G (p.Arg110Gly) c.1039C>G (p.Arg347Gly) c.265C>G (p.Arg89Gly) n.1266C>G c.445C>G (p.Arg149Gly) n.1260C>G | |
X | g.53255856G= | CA2429777180 | IQSEC2 | c.1102C= (p.Arg368=) c.232C= (p.Arg78=) c.943C= (p.Arg315=) c.913C= (p.Arg305=) c.328C= (p.Arg110=) c.1039C= (p.Arg347=) c.265C= (p.Arg89=) n.1266C= c.445C= (p.Arg149=) n.1260C= | |
X | g.53255856G>T | CA413171281 | IQSEC2 | c.1102C>A (p.Arg368Ser) c.232C>A (p.Arg78Ser) c.943C>A (p.Arg315Ser) c.913C>A (p.Arg305Ser) c.328C>A (p.Arg110Ser) c.1039C>A (p.Arg347Ser) c.265C>A (p.Arg89Ser) n.1266C>A c.445C>A (p.Arg149Ser) n.1260C>A | |
X | g.53255856dup | CA2580101223 | IQSEC2 | c.1102dup (p.Arg368ProfsTer10) c.232dup (p.Arg78ProfsTer10) c.943dup (p.Arg315ProfsTer10) c.913dup (p.Arg305ProfsTer10) c.328dup (p.Arg110ProfsTer10) c.1039dup (p.Arg347ProfsTer10) c.265dup (p.Arg89ProfsTer10) n.1266dup c.445dup (p.Arg149ProfsTer10) n.1260dup | ClinVar dbSNP |
X | g.53255857C>A | CA413171287 | IQSEC2 | c.1101G>T (p.Lys367Asn) c.231G>T (p.Lys77Asn) c.942G>T (p.Lys314Asn) c.912G>T (p.Lys304Asn) c.327G>T (p.Lys109Asn) c.1038G>T (p.Lys346Asn) c.264G>T (p.Lys88Asn) n.1265G>T c.444G>T (p.Lys148Asn) n.1259G>T | |
X | g.53255857C= | CA2429777181 | IQSEC2 | c.1101G= (p.Lys367=) c.231G= (p.Lys77=) c.942G= (p.Lys314=) c.912G= (p.Lys304=) c.327G= (p.Lys109=) c.1038G= (p.Lys346=) c.264G= (p.Lys88=) n.1265G= c.444G= (p.Lys148=) n.1259G= | |
X | g.53255857C>G | CA413171290 | IQSEC2 | c.1101G>C (p.Lys367Asn) c.231G>C (p.Lys77Asn) c.942G>C (p.Lys314Asn) c.912G>C (p.Lys304Asn) c.327G>C (p.Lys109Asn) c.1038G>C (p.Lys346Asn) c.264G>C (p.Lys88Asn) n.1265G>C c.444G>C (p.Lys148Asn) n.1259G>C | |
X | g.53255857C>T | CA516674393 | IQSEC2 | c.1101G>A (p.Lys367=) c.231G>A (p.Lys77=) c.942G>A (p.Lys314=) c.912G>A (p.Lys304=) c.327G>A (p.Lys109=) c.1038G>A (p.Lys346=) c.264G>A (p.Lys88=) n.1265G>A c.444G>A (p.Lys148=) n.1259G>A | ClinVar dbSNP gnomAD v4 |
X | g.53255858T>A | CA413171292 | IQSEC2 | c.1100A>T (p.Lys367Met) c.230A>T (p.Lys77Met) c.941A>T (p.Lys314Met) c.911A>T (p.Lys304Met) c.326A>T (p.Lys109Met) c.1037A>T (p.Lys346Met) c.263A>T (p.Lys88Met) n.1264A>T c.443A>T (p.Lys148Met) n.1258A>T | |
X | g.53255858T>C | CA413171294 | IQSEC2 | c.1100A>G (p.Lys367Arg) c.230A>G (p.Lys77Arg) c.941A>G (p.Lys314Arg) c.911A>G (p.Lys304Arg) c.326A>G (p.Lys109Arg) c.1037A>G (p.Lys346Arg) c.263A>G (p.Lys88Arg) n.1264A>G c.443A>G (p.Lys148Arg) n.1258A>G | |
X | g.53255858T>G | CA413171297 | IQSEC2 | c.1100A>C (p.Lys367Thr) c.230A>C (p.Lys77Thr) c.941A>C (p.Lys314Thr) c.911A>C (p.Lys304Thr) c.326A>C (p.Lys109Thr) c.1037A>C (p.Lys346Thr) c.263A>C (p.Lys88Thr) n.1264A>C c.443A>C (p.Lys148Thr) n.1258A>C | |
X | g.53255859T>A | CA413171300 | IQSEC2 | c.1099A>T (p.Lys367Ter) c.229A>T (p.Lys77Ter) c.940A>T (p.Lys314Ter) c.910A>T (p.Lys304Ter) c.325A>T (p.Lys109Ter) c.1036A>T (p.Lys346Ter) c.262A>T (p.Lys88Ter) n.1263A>T c.442A>T (p.Lys148Ter) n.1257A>T | |
X | g.53255859T>C | CA413171306 | IQSEC2 | c.1099A>G (p.Lys367Glu) c.229A>G (p.Lys77Glu) c.940A>G (p.Lys314Glu) c.910A>G (p.Lys304Glu) c.325A>G (p.Lys109Glu) c.1036A>G (p.Lys346Glu) c.262A>G (p.Lys88Glu) n.1263A>G c.442A>G (p.Lys148Glu) n.1257A>G | |
X | g.53255859T>G | CA413171303 | IQSEC2 | c.1099A>C (p.Lys367Gln) c.229A>C (p.Lys77Gln) c.940A>C (p.Lys314Gln) c.910A>C (p.Lys304Gln) c.325A>C (p.Lys109Gln) c.1036A>C (p.Lys346Gln) c.262A>C (p.Lys88Gln) n.1263A>C c.442A>C (p.Lys148Gln) n.1257A>C | gnomAD v4 |
X | g.53255859_53255861delinsTTA | CA2429777182 | IQSEC2 | c.1097_1099delinsTAA (p.Ile366=) c.227_229delinsTAA (p.Ile76=) c.938_940delinsTAA (p.Ile313=) c.908_910delinsTAA (p.Ile303=) c.323_325delinsTAA (p.Ile108=) c.1034_1036delinsTAA (p.Ile345=) c.260_262delinsTAA (p.Ile87=) n.1261_1263delinsTAA c.440_442delinsTAA (p.Ile147=) n.1255_1257delinsTAA | |
X | g.53255860T>A | CA516674399 | IQSEC2 | c.1098A>T (p.Ile366=) c.228A>T (p.Ile76=) c.939A>T (p.Ile313=) c.909A>T (p.Ile303=) c.324A>T (p.Ile108=) c.1035A>T (p.Ile345=) c.261A>T (p.Ile87=) n.1262A>T c.441A>T (p.Ile147=) n.1256A>T | |
X | g.53255860T>C | CA413171308 | IQSEC2 | c.1098A>G (p.Ile366Met) c.228A>G (p.Ile76Met) c.939A>G (p.Ile313Met) c.909A>G (p.Ile303Met) c.324A>G (p.Ile108Met) c.1035A>G (p.Ile345Met) c.261A>G (p.Ile87Met) n.1262A>G c.441A>G (p.Ile147Met) n.1256A>G | |
X | g.53255860T>G | CA516674402 | IQSEC2 | c.1098A>C (p.Ile366=) c.228A>C (p.Ile76=) c.939A>C (p.Ile313=) c.909A>C (p.Ile303=) c.324A>C (p.Ile108=) c.1035A>C (p.Ile345=) c.261A>C (p.Ile87=) n.1262A>C c.441A>C (p.Ile147=) n.1256A>C | |
X | g.53255861_53255862del | CA915951102 | IQSEC2 | c.1097_1098del (p.Ile366LysfsTer11) c.227_228del (p.Ile76LysfsTer11) c.938_939del (p.Ile313LysfsTer11) c.908_909del (p.Ile303LysfsTer11) c.323_324del (p.Ile108LysfsTer11) c.1034_1035del (p.Ile345LysfsTer11) c.260_261del (p.Ile87LysfsTer11) n.1261_1262del c.440_441del (p.Ile147LysfsTer11) n.1255_1256del | ClinVar dbSNP |
X | g.53255861A>C | CA413171310 | IQSEC2 | c.1097T>G (p.Ile366Arg) c.227T>G (p.Ile76Arg) c.938T>G (p.Ile313Arg) c.908T>G (p.Ile303Arg) c.323T>G (p.Ile108Arg) c.1034T>G (p.Ile345Arg) c.260T>G (p.Ile87Arg) n.1261T>G c.440T>G (p.Ile147Arg) n.1255T>G | |
X | g.53255861A>G | CA413171315 | IQSEC2 | c.1097T>C (p.Ile366Thr) c.227T>C (p.Ile76Thr) c.938T>C (p.Ile313Thr) c.908T>C (p.Ile303Thr) c.323T>C (p.Ile108Thr) c.1034T>C (p.Ile345Thr) c.260T>C (p.Ile87Thr) n.1261T>C c.440T>C (p.Ile147Thr) n.1255T>C | gnomAD v4 |
X | g.53255861A>T | CA413171318 | IQSEC2 | c.1097T>A (p.Ile366Lys) c.227T>A (p.Ile76Lys) c.938T>A (p.Ile313Lys) c.908T>A (p.Ile303Lys) c.323T>A (p.Ile108Lys) c.1034T>A (p.Ile345Lys) c.260T>A (p.Ile87Lys) n.1261T>A c.440T>A (p.Ile147Lys) n.1255T>A | |
X | g.53255862T>A | CA413171329 | IQSEC2 | c.1096A>T (p.Ile366Leu) c.226A>T (p.Ile76Leu) c.937A>T (p.Ile313Leu) c.907A>T (p.Ile303Leu) c.322A>T (p.Ile108Leu) c.1033A>T (p.Ile345Leu) c.259A>T (p.Ile87Leu) n.1260A>T c.439A>T (p.Ile147Leu) n.1254A>T | |
X | g.53255862T>C | CA413171331 | IQSEC2 | c.1096A>G (p.Ile366Val) c.226A>G (p.Ile76Val) c.937A>G (p.Ile313Val) c.907A>G (p.Ile303Val) c.322A>G (p.Ile108Val) c.1033A>G (p.Ile345Val) c.259A>G (p.Ile87Val) n.1260A>G c.439A>G (p.Ile147Val) n.1254A>G | |
X | g.53255862T>G | CA413171334 | IQSEC2 | c.1096A>C (p.Ile366Leu) c.226A>C (p.Ile76Leu) c.937A>C (p.Ile313Leu) c.907A>C (p.Ile303Leu) c.322A>C (p.Ile108Leu) c.1033A>C (p.Ile345Leu) c.259A>C (p.Ile87Leu) n.1260A>C c.439A>C (p.Ile147Leu) n.1254A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53255862T= | CA2429777184 | IQSEC2 | c.1096A= (p.Ile366=) c.226A= (p.Ile76=) c.937A= (p.Ile313=) c.907A= (p.Ile303=) c.322A= (p.Ile108=) c.1033A= (p.Ile345=) c.259A= (p.Ile87=) n.1260A= c.439A= (p.Ile147=) n.1254A= | |
X | g.53255862_53255865delinsTCTC | CA2429777183 | IQSEC2 | c.1093_1096delinsGAGA (p.Glu365=) c.223_226delinsGAGA (p.Glu75=) c.934_937delinsGAGA (p.Glu312=) c.904_907delinsGAGA (p.Glu302=) c.319_322delinsGAGA (p.Glu107=) c.1030_1033delinsGAGA (p.Glu344=) c.256_259delinsGAGA (p.Glu86=) n.1257_1260delinsGAGA c.436_439delinsGAGA (p.Glu146=) n.1251_1254delinsGAGA | |
X | g.53255863C>A | CA413171339 | IQSEC2 | c.1095G>T (p.Glu365Asp) c.225G>T (p.Glu75Asp) c.936G>T (p.Glu312Asp) c.906G>T (p.Glu302Asp) c.321G>T (p.Glu107Asp) c.1032G>T (p.Glu344Asp) c.258G>T (p.Glu86Asp) n.1259G>T c.438G>T (p.Glu146Asp) n.1253G>T | |
X | g.53255863C= | CA2429777185 | IQSEC2 | c.1095G= (p.Glu365=) c.225G= (p.Glu75=) c.936G= (p.Glu312=) c.906G= (p.Glu302=) c.321G= (p.Glu107=) c.1032G= (p.Glu344=) c.258G= (p.Glu86=) n.1259G= c.438G= (p.Glu146=) n.1253G= | |
X | g.53255863C>G | CA413171343 | IQSEC2 | c.1095G>C (p.Glu365Asp) c.225G>C (p.Glu75Asp) c.936G>C (p.Glu312Asp) c.906G>C (p.Glu302Asp) c.321G>C (p.Glu107Asp) c.1032G>C (p.Glu344Asp) c.258G>C (p.Glu86Asp) n.1259G>C c.438G>C (p.Glu146Asp) n.1253G>C | |
X | g.53255863C>T | CA516674404 | IQSEC2 | c.1095G>A (p.Glu365=) c.225G>A (p.Glu75=) c.936G>A (p.Glu312=) c.906G>A (p.Glu302=) c.321G>A (p.Glu107=) c.1032G>A (p.Glu344=) c.258G>A (p.Glu86=) n.1259G>A c.438G>A (p.Glu146=) n.1253G>A | ClinVar dbSNP gnomAD v4 |
X | g.53255874_53255876del | CA10420127 | IQSEC2 | c.1093_1095del (p.Glu365del) c.223_225del (p.Glu75del) c.934_936del (p.Glu312del) c.904_906del (p.Glu302del) c.319_321del (p.Glu107del) c.1030_1032del (p.Glu344del) c.256_258del (p.Glu86del) n.1257_1259del c.436_438del (p.Glu146del) n.1251_1253del | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255864T>A | CA413171348 | IQSEC2 | c.1094A>T (p.Glu365Val) c.224A>T (p.Glu75Val) c.935A>T (p.Glu312Val) c.905A>T (p.Glu302Val) c.320A>T (p.Glu107Val) c.1031A>T (p.Glu344Val) c.257A>T (p.Glu86Val) n.1258A>T c.437A>T (p.Glu146Val) n.1252A>T | |
X | g.53255864T>C | CA413171350 | IQSEC2 | c.1094A>G (p.Glu365Gly) c.224A>G (p.Glu75Gly) c.935A>G (p.Glu312Gly) c.905A>G (p.Glu302Gly) c.320A>G (p.Glu107Gly) c.1031A>G (p.Glu344Gly) c.257A>G (p.Glu86Gly) n.1258A>G c.437A>G (p.Glu146Gly) n.1252A>G | |
X | g.53255864T>G | CA413171346 | IQSEC2 | c.1094A>C (p.Glu365Ala) c.224A>C (p.Glu75Ala) c.935A>C (p.Glu312Ala) c.905A>C (p.Glu302Ala) c.320A>C (p.Glu107Ala) c.1031A>C (p.Glu344Ala) c.257A>C (p.Glu86Ala) n.1258A>C c.437A>C (p.Glu146Ala) n.1252A>C | |
X | g.53255865C>A | CA413171353 | IQSEC2 | c.1093G>T (p.Glu365Ter) c.223G>T (p.Glu75Ter) c.934G>T (p.Glu312Ter) c.904G>T (p.Glu302Ter) c.319G>T (p.Glu107Ter) c.1030G>T (p.Glu344Ter) c.256G>T (p.Glu86Ter) n.1257G>T c.436G>T (p.Glu146Ter) n.1251G>T | |
X | g.53255865C>G | CA413171357 | IQSEC2 | c.1093G>C (p.Glu365Gln) c.223G>C (p.Glu75Gln) c.934G>C (p.Glu312Gln) c.904G>C (p.Glu302Gln) c.319G>C (p.Glu107Gln) c.1030G>C (p.Glu344Gln) c.256G>C (p.Glu86Gln) n.1257G>C c.436G>C (p.Glu146Gln) n.1251G>C | |
X | g.53255865C>T | CA413171360 | IQSEC2 | c.1093G>A (p.Glu365Lys) c.223G>A (p.Glu75Lys) c.934G>A (p.Glu312Lys) c.904G>A (p.Glu302Lys) c.319G>A (p.Glu107Lys) c.1030G>A (p.Glu344Lys) c.256G>A (p.Glu86Lys) n.1257G>A c.436G>A (p.Glu146Lys) n.1251G>A | gnomAD v4 |
X | g.53255866C>A | CA413171361 | IQSEC2 | c.1092G>T (p.Glu364Asp) c.222G>T (p.Glu74Asp) c.933G>T (p.Glu311Asp) c.903G>T (p.Glu301Asp) c.318G>T (p.Glu106Asp) c.1029G>T (p.Glu343Asp) c.255G>T (p.Glu85Asp) n.1256G>T c.435G>T (p.Glu145Asp) n.1250G>T | |
X | g.53255866C>G | CA413171362 | IQSEC2 | c.1092G>C (p.Glu364Asp) c.222G>C (p.Glu74Asp) c.933G>C (p.Glu311Asp) c.903G>C (p.Glu301Asp) c.318G>C (p.Glu106Asp) c.1029G>C (p.Glu343Asp) c.255G>C (p.Glu85Asp) n.1256G>C c.435G>C (p.Glu145Asp) n.1250G>C | |
X | g.53255866C>T | CA516674408 | IQSEC2 | c.1092G>A (p.Glu364=) c.222G>A (p.Glu74=) c.933G>A (p.Glu311=) c.903G>A (p.Glu301=) c.318G>A (p.Glu106=) c.1029G>A (p.Glu343=) c.255G>A (p.Glu85=) n.1256G>A c.435G>A (p.Glu145=) n.1250G>A | |
X | g.53255867T>A | CA413171366 | IQSEC2 | c.1091A>T (p.Glu364Val) c.221A>T (p.Glu74Val) c.932A>T (p.Glu311Val) c.902A>T (p.Glu301Val) c.317A>T (p.Glu106Val) c.1028A>T (p.Glu343Val) c.254A>T (p.Glu85Val) n.1255A>T c.434A>T (p.Glu145Val) n.1249A>T | |
X | g.53255867T>C | CA413171363 | IQSEC2 | c.1091A>G (p.Glu364Gly) c.221A>G (p.Glu74Gly) c.932A>G (p.Glu311Gly) c.902A>G (p.Glu301Gly) c.317A>G (p.Glu106Gly) c.1028A>G (p.Glu343Gly) c.254A>G (p.Glu85Gly) n.1255A>G c.434A>G (p.Glu145Gly) n.1249A>G | |
X | g.53255867T>G | CA413171364 | IQSEC2 | c.1091A>C (p.Glu364Ala) c.221A>C (p.Glu74Ala) c.932A>C (p.Glu311Ala) c.902A>C (p.Glu301Ala) c.317A>C (p.Glu106Ala) c.1028A>C (p.Glu343Ala) c.254A>C (p.Glu85Ala) n.1255A>C c.434A>C (p.Glu145Ala) n.1249A>C | |
X | g.53255868C>A | CA413171370 | IQSEC2 | c.1090G>T (p.Glu364Ter) c.220G>T (p.Glu74Ter) c.931G>T (p.Glu311Ter) c.901G>T (p.Glu301Ter) c.316G>T (p.Glu106Ter) c.1027G>T (p.Glu343Ter) c.253G>T (p.Glu85Ter) n.1254G>T c.433G>T (p.Glu145Ter) n.1248G>T | |
X | g.53255868C>G | CA413171375 | IQSEC2 | c.1090G>C (p.Glu364Gln) c.220G>C (p.Glu74Gln) c.931G>C (p.Glu311Gln) c.901G>C (p.Glu301Gln) c.316G>C (p.Glu106Gln) c.1027G>C (p.Glu343Gln) c.253G>C (p.Glu85Gln) n.1254G>C c.433G>C (p.Glu145Gln) n.1248G>C | |
X | g.53255868C>T | CA413171377 | IQSEC2 | c.1090G>A (p.Glu364Lys) c.220G>A (p.Glu74Lys) c.931G>A (p.Glu311Lys) c.901G>A (p.Glu301Lys) c.316G>A (p.Glu106Lys) c.1027G>A (p.Glu343Lys) c.253G>A (p.Glu85Lys) n.1254G>A c.433G>A (p.Glu145Lys) n.1248G>A | |
X | g.53255869C>A | CA413171382 | IQSEC2 | c.1089G>T (p.Glu363Asp) c.219G>T (p.Glu73Asp) c.930G>T (p.Glu310Asp) c.900G>T (p.Glu300Asp) c.315G>T (p.Glu105Asp) c.1026G>T (p.Glu342Asp) c.252G>T (p.Glu84Asp) n.1253G>T c.432G>T (p.Glu144Asp) n.1247G>T | |
X | g.53255869C>G | CA413171384 | IQSEC2 | c.1089G>C (p.Glu363Asp) c.219G>C (p.Glu73Asp) c.930G>C (p.Glu310Asp) c.900G>C (p.Glu300Asp) c.315G>C (p.Glu105Asp) c.1026G>C (p.Glu342Asp) c.252G>C (p.Glu84Asp) n.1253G>C c.432G>C (p.Glu144Asp) n.1247G>C | |
X | g.53255869C>T | CA516674416 | IQSEC2 | c.1089G>A (p.Glu363=) c.219G>A (p.Glu73=) c.930G>A (p.Glu310=) c.900G>A (p.Glu300=) c.315G>A (p.Glu105=) c.1026G>A (p.Glu342=) c.252G>A (p.Glu84=) n.1253G>A c.432G>A (p.Glu144=) n.1247G>A | |
X | g.53255870T>A | CA413171389 | IQSEC2 | c.1088A>T (p.Glu363Val) c.218A>T (p.Glu73Val) c.929A>T (p.Glu310Val) c.899A>T (p.Glu300Val) c.314A>T (p.Glu105Val) c.1025A>T (p.Glu342Val) c.251A>T (p.Glu84Val) n.1252A>T c.431A>T (p.Glu144Val) n.1246A>T | |
X | g.53255870T>C | CA413171395 | IQSEC2 | c.1088A>G (p.Glu363Gly) c.218A>G (p.Glu73Gly) c.929A>G (p.Glu310Gly) c.899A>G (p.Glu300Gly) c.314A>G (p.Glu105Gly) c.1025A>G (p.Glu342Gly) c.251A>G (p.Glu84Gly) n.1252A>G c.431A>G (p.Glu144Gly) n.1246A>G | |
X | g.53255870T>G | CA413171392 | IQSEC2 | c.1088A>C (p.Glu363Ala) c.218A>C (p.Glu73Ala) c.929A>C (p.Glu310Ala) c.899A>C (p.Glu300Ala) c.314A>C (p.Glu105Ala) c.1025A>C (p.Glu342Ala) c.251A>C (p.Glu84Ala) n.1252A>C c.431A>C (p.Glu144Ala) n.1246A>C | |
X | g.53255871C>A | CA413171397 | IQSEC2 | c.1087G>T (p.Glu363Ter) c.217G>T (p.Glu73Ter) c.928G>T (p.Glu310Ter) c.898G>T (p.Glu300Ter) c.313G>T (p.Glu105Ter) c.1024G>T (p.Glu342Ter) c.250G>T (p.Glu84Ter) n.1251G>T c.430G>T (p.Glu144Ter) n.1245G>T | |
X | g.53255871C>G | CA413171399 | IQSEC2 | c.1087G>C (p.Glu363Gln) c.217G>C (p.Glu73Gln) c.928G>C (p.Glu310Gln) c.898G>C (p.Glu300Gln) c.313G>C (p.Glu105Gln) c.1024G>C (p.Glu342Gln) c.250G>C (p.Glu84Gln) n.1251G>C c.430G>C (p.Glu144Gln) n.1245G>C | |
X | g.53255871C>T | CA413171402 | IQSEC2 | c.1087G>A (p.Glu363Lys) c.217G>A (p.Glu73Lys) c.928G>A (p.Glu310Lys) c.898G>A (p.Glu300Lys) c.313G>A (p.Glu105Lys) c.1024G>A (p.Glu342Lys) c.250G>A (p.Glu84Lys) n.1251G>A c.430G>A (p.Glu144Lys) n.1245G>A | |
X | g.53255872C>A | CA413171405 | IQSEC2 | c.1086G>T (p.Glu362Asp) c.216G>T (p.Glu72Asp) c.927G>T (p.Glu309Asp) c.897G>T (p.Glu299Asp) c.312G>T (p.Glu104Asp) c.1023G>T (p.Glu341Asp) c.249G>T (p.Glu83Asp) n.1250G>T c.429G>T (p.Glu143Asp) n.1244G>T | |
X | g.53255872C= | CA2429777186 | IQSEC2 | c.1086G= (p.Glu362=) c.216G= (p.Glu72=) c.927G= (p.Glu309=) c.897G= (p.Glu299=) c.312G= (p.Glu104=) c.1023G= (p.Glu341=) c.249G= (p.Glu83=) n.1250G= c.429G= (p.Glu143=) n.1244G= | |
X | g.53255872C>G | CA413171407 | IQSEC2 | c.1086G>C (p.Glu362Asp) c.216G>C (p.Glu72Asp) c.927G>C (p.Glu309Asp) c.897G>C (p.Glu299Asp) c.312G>C (p.Glu104Asp) c.1023G>C (p.Glu341Asp) c.249G>C (p.Glu83Asp) n.1250G>C c.429G>C (p.Glu143Asp) n.1244G>C | |
X | g.53255872C>T | CA516674418 | IQSEC2 | c.1086G>A (p.Glu362=) c.216G>A (p.Glu72=) c.927G>A (p.Glu309=) c.897G>A (p.Glu299=) c.312G>A (p.Glu104=) c.1023G>A (p.Glu341=) c.249G>A (p.Glu83=) n.1250G>A c.429G>A (p.Glu143=) n.1244G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.53255873T>A | CA413171410 | IQSEC2 | c.1085A>T (p.Glu362Val) c.215A>T (p.Glu72Val) c.926A>T (p.Glu309Val) c.896A>T (p.Glu299Val) c.311A>T (p.Glu104Val) c.1022A>T (p.Glu341Val) c.248A>T (p.Glu83Val) n.1249A>T c.428A>T (p.Glu143Val) n.1243A>T | |
X | g.53255873T>C | CA413171413 | IQSEC2 | c.1085A>G (p.Glu362Gly) c.215A>G (p.Glu72Gly) c.926A>G (p.Glu309Gly) c.896A>G (p.Glu299Gly) c.311A>G (p.Glu104Gly) c.1022A>G (p.Glu341Gly) c.248A>G (p.Glu83Gly) n.1249A>G c.428A>G (p.Glu143Gly) n.1243A>G | gnomAD v4 |
X | g.53255873T>G | CA413171416 | IQSEC2 | c.1085A>C (p.Glu362Ala) c.215A>C (p.Glu72Ala) c.926A>C (p.Glu309Ala) c.896A>C (p.Glu299Ala) c.311A>C (p.Glu104Ala) c.1022A>C (p.Glu341Ala) c.248A>C (p.Glu83Ala) n.1249A>C c.428A>C (p.Glu143Ala) n.1243A>C | |
X | g.53255874C>A | CA413171417 | IQSEC2 | c.1084G>T (p.Glu362Ter) c.214G>T (p.Glu72Ter) c.925G>T (p.Glu309Ter) c.895G>T (p.Glu299Ter) c.310G>T (p.Glu104Ter) c.1021G>T (p.Glu341Ter) c.247G>T (p.Glu83Ter) n.1248G>T c.427G>T (p.Glu143Ter) n.1242G>T | |
X | g.53255874C>G | CA413171420 | IQSEC2 | c.1084G>C (p.Glu362Gln) c.214G>C (p.Glu72Gln) c.925G>C (p.Glu309Gln) c.895G>C (p.Glu299Gln) c.310G>C (p.Glu104Gln) c.1021G>C (p.Glu341Gln) c.247G>C (p.Glu83Gln) n.1248G>C c.427G>C (p.Glu143Gln) n.1242G>C | |
X | g.53255874C>T | CA413171422 | IQSEC2 | c.1084G>A (p.Glu362Lys) c.214G>A (p.Glu72Lys) c.925G>A (p.Glu309Lys) c.895G>A (p.Glu299Lys) c.310G>A (p.Glu104Lys) c.1021G>A (p.Glu341Lys) c.247G>A (p.Glu83Lys) n.1248G>A c.427G>A (p.Glu143Lys) n.1242G>A | |
X | g.53255875C>A | CA413171425 | IQSEC2 | c.1083G>T (p.Gln361His) c.213G>T (p.Gln71His) c.924G>T (p.Gln308His) c.894G>T (p.Gln298His) c.309G>T (p.Gln103His) c.1020G>T (p.Gln340His) c.246G>T (p.Gln82His) n.1247G>T c.426G>T (p.Gln142His) n.1241G>T | |
X | g.53255875C>G | CA413171424 | IQSEC2 | c.1083G>C (p.Gln361His) c.213G>C (p.Gln71His) c.924G>C (p.Gln308His) c.894G>C (p.Gln298His) c.309G>C (p.Gln103His) c.1020G>C (p.Gln340His) c.246G>C (p.Gln82His) n.1247G>C c.426G>C (p.Gln142His) n.1241G>C | |
X | g.53255875C>T | CA516674424 | IQSEC2 | c.1083G>A (p.Gln361=) c.213G>A (p.Gln71=) c.924G>A (p.Gln308=) c.894G>A (p.Gln298=) c.309G>A (p.Gln103=) c.1020G>A (p.Gln340=) c.246G>A (p.Gln82=) n.1247G>A c.426G>A (p.Gln142=) n.1241G>A | |
X | g.53255876T>A | CA413171428 | IQSEC2 | c.1082A>T (p.Gln361Leu) c.212A>T (p.Gln71Leu) c.923A>T (p.Gln308Leu) c.893A>T (p.Gln298Leu) c.308A>T (p.Gln103Leu) c.1019A>T (p.Gln340Leu) c.245A>T (p.Gln82Leu) n.1246A>T c.425A>T (p.Gln142Leu) n.1240A>T | |
X | g.53255876T>C | CA413171433 | IQSEC2 | c.1082A>G (p.Gln361Arg) c.212A>G (p.Gln71Arg) c.923A>G (p.Gln308Arg) c.893A>G (p.Gln298Arg) c.308A>G (p.Gln103Arg) c.1019A>G (p.Gln340Arg) c.245A>G (p.Gln82Arg) n.1246A>G c.425A>G (p.Gln142Arg) n.1240A>G | |
X | g.53255876T>G | CA413171431 | IQSEC2 | c.1082A>C (p.Gln361Pro) c.212A>C (p.Gln71Pro) c.923A>C (p.Gln308Pro) c.893A>C (p.Gln298Pro) c.308A>C (p.Gln103Pro) c.1019A>C (p.Gln340Pro) c.245A>C (p.Gln82Pro) n.1246A>C c.425A>C (p.Gln142Pro) n.1240A>C | |
X | g.53255877G>A | CA413171437 | IQSEC2 | c.1081C>T (p.Gln361Ter) c.211C>T (p.Gln71Ter) c.922C>T (p.Gln308Ter) c.892C>T (p.Gln298Ter) c.307C>T (p.Gln103Ter) c.1018C>T (p.Gln340Ter) c.244C>T (p.Gln82Ter) n.1245C>T c.424C>T (p.Gln142Ter) n.1239C>T | |
X | g.53255877G>C | CA413171441 | IQSEC2 | c.1081C>G (p.Gln361Glu) c.211C>G (p.Gln71Glu) c.922C>G (p.Gln308Glu) c.892C>G (p.Gln298Glu) c.307C>G (p.Gln103Glu) c.1018C>G (p.Gln340Glu) c.244C>G (p.Gln82Glu) n.1245C>G c.424C>G (p.Gln142Glu) n.1239C>G | |
X | g.53255877G>T | CA413171443 | IQSEC2 | c.1081C>A (p.Gln361Lys) c.211C>A (p.Gln71Lys) c.922C>A (p.Gln308Lys) c.892C>A (p.Gln298Lys) c.307C>A (p.Gln103Lys) c.1018C>A (p.Gln340Lys) c.244C>A (p.Gln82Lys) n.1245C>A c.424C>A (p.Gln142Lys) n.1239C>A | |
X | g.53255878C>A | CA413171446 | IQSEC2 | c.1080G>T (p.Lys360Asn) c.210G>T (p.Lys70Asn) c.921G>T (p.Lys307Asn) c.891G>T (p.Lys297Asn) c.306G>T (p.Lys102Asn) c.1017G>T (p.Lys339Asn) c.243G>T (p.Lys81Asn) n.1244G>T c.423G>T (p.Lys141Asn) n.1238G>T | |
X | g.53255878C>G | CA413171449 | IQSEC2 | c.1080G>C (p.Lys360Asn) c.210G>C (p.Lys70Asn) c.921G>C (p.Lys307Asn) c.891G>C (p.Lys297Asn) c.306G>C (p.Lys102Asn) c.1017G>C (p.Lys339Asn) c.243G>C (p.Lys81Asn) n.1244G>C c.423G>C (p.Lys141Asn) n.1238G>C | |
X | g.53255878C>T | CA516674432 | IQSEC2 | c.1080G>A (p.Lys360=) c.210G>A (p.Lys70=) c.921G>A (p.Lys307=) c.891G>A (p.Lys297=) c.306G>A (p.Lys102=) c.1017G>A (p.Lys339=) c.243G>A (p.Lys81=) n.1244G>A c.423G>A (p.Lys141=) n.1238G>A | |
X | g.53255879T>A | CA413171451 | IQSEC2 | c.1079A>T (p.Lys360Met) c.209A>T (p.Lys70Met) c.920A>T (p.Lys307Met) c.890A>T (p.Lys297Met) c.305A>T (p.Lys102Met) c.1016A>T (p.Lys339Met) c.242A>T (p.Lys81Met) n.1243A>T c.422A>T (p.Lys141Met) n.1237A>T | |
X | g.53255879T>C | CA413171454 | IQSEC2 | c.1079A>G (p.Lys360Arg) c.209A>G (p.Lys70Arg) c.920A>G (p.Lys307Arg) c.890A>G (p.Lys297Arg) c.305A>G (p.Lys102Arg) c.1016A>G (p.Lys339Arg) c.242A>G (p.Lys81Arg) n.1243A>G c.422A>G (p.Lys141Arg) n.1237A>G | |
X | g.53255879T>G | CA413171457 | IQSEC2 | c.1079A>C (p.Lys360Thr) c.209A>C (p.Lys70Thr) c.920A>C (p.Lys307Thr) c.890A>C (p.Lys297Thr) c.305A>C (p.Lys102Thr) c.1016A>C (p.Lys339Thr) c.242A>C (p.Lys81Thr) n.1243A>C c.422A>C (p.Lys141Thr) n.1237A>C | |
X | g.53255880T>A | CA413171460 | IQSEC2 | c.1078A>T (p.Lys360Ter) c.208A>T (p.Lys70Ter) c.919A>T (p.Lys307Ter) c.889A>T (p.Lys297Ter) c.304A>T (p.Lys102Ter) c.1015A>T (p.Lys339Ter) c.241A>T (p.Lys81Ter) n.1242A>T c.421A>T (p.Lys141Ter) n.1236A>T | |
X | g.53255880T>C | CA413171461 | IQSEC2 | c.1078A>G (p.Lys360Glu) c.208A>G (p.Lys70Glu) c.919A>G (p.Lys307Glu) c.889A>G (p.Lys297Glu) c.304A>G (p.Lys102Glu) c.1015A>G (p.Lys339Glu) c.241A>G (p.Lys81Glu) n.1242A>G c.421A>G (p.Lys141Glu) n.1236A>G | |
X | g.53255880T>G | CA413171466 | IQSEC2 | c.1078A>C (p.Lys360Gln) c.208A>C (p.Lys70Gln) c.919A>C (p.Lys307Gln) c.889A>C (p.Lys297Gln) c.304A>C (p.Lys102Gln) c.1015A>C (p.Lys339Gln) c.241A>C (p.Lys81Gln) n.1242A>C c.421A>C (p.Lys141Gln) n.1236A>C | |
X | g.53255881C>A | CA413171469 | IQSEC2 | c.1077G>T (p.Arg359Ser) c.207G>T (p.Arg69Ser) c.918G>T (p.Arg306Ser) c.888G>T (p.Arg296Ser) c.303G>T (p.Arg101Ser) c.1014G>T (p.Arg338Ser) c.240G>T (p.Arg80Ser) n.1241G>T c.420G>T (p.Arg140Ser) n.1235G>T | |
X | g.53255881C>G | CA413171473 | IQSEC2 | c.1077G>C (p.Arg359Ser) c.207G>C (p.Arg69Ser) c.918G>C (p.Arg306Ser) c.888G>C (p.Arg296Ser) c.303G>C (p.Arg101Ser) c.1014G>C (p.Arg338Ser) c.240G>C (p.Arg80Ser) n.1241G>C c.420G>C (p.Arg140Ser) n.1235G>C | |
X | g.53255881C>T | CA516674448 | IQSEC2 | c.1077G>A (p.Arg359=) c.207G>A (p.Arg69=) c.918G>A (p.Arg306=) c.888G>A (p.Arg296=) c.303G>A (p.Arg101=) c.1014G>A (p.Arg338=) c.240G>A (p.Arg80=) n.1241G>A c.420G>A (p.Arg140=) n.1235G>A | |
X | g.53255882C>A | CA413171477 | IQSEC2 | c.1076G>T (p.Arg359Met) c.206G>T (p.Arg69Met) c.917G>T (p.Arg306Met) c.887G>T (p.Arg296Met) c.302G>T (p.Arg101Met) c.1013G>T (p.Arg338Met) c.239G>T (p.Arg80Met) n.1240G>T c.419G>T (p.Arg140Met) n.1234G>T | |
X | g.53255882C>G | CA413171480 | IQSEC2 | c.1076G>C (p.Arg359Thr) c.206G>C (p.Arg69Thr) c.917G>C (p.Arg306Thr) c.887G>C (p.Arg296Thr) c.302G>C (p.Arg101Thr) c.1013G>C (p.Arg338Thr) c.239G>C (p.Arg80Thr) n.1240G>C c.419G>C (p.Arg140Thr) n.1234G>C | |
X | g.53255882C>T | CA413171479 | IQSEC2 | c.1076G>A (p.Arg359Lys) c.206G>A (p.Arg69Lys) c.917G>A (p.Arg306Lys) c.887G>A (p.Arg296Lys) c.302G>A (p.Arg101Lys) c.1013G>A (p.Arg338Lys) c.239G>A (p.Arg80Lys) n.1240G>A c.419G>A (p.Arg140Lys) n.1234G>A | |
X | g.53255883T>A | CA413171482 | IQSEC2 | c.1075A>T (p.Arg359Trp) c.205A>T (p.Arg69Trp) c.916A>T (p.Arg306Trp) c.886A>T (p.Arg296Trp) c.301A>T (p.Arg101Trp) c.1012A>T (p.Arg338Trp) c.238A>T (p.Arg80Trp) n.1239A>T c.418A>T (p.Arg140Trp) n.1233A>T | |
X | g.53255883T>C | CA413171483 | IQSEC2 | c.1075A>G (p.Arg359Gly) c.205A>G (p.Arg69Gly) c.916A>G (p.Arg306Gly) c.886A>G (p.Arg296Gly) c.301A>G (p.Arg101Gly) c.1012A>G (p.Arg338Gly) c.238A>G (p.Arg80Gly) n.1239A>G c.418A>G (p.Arg140Gly) n.1233A>G | |
X | g.53255883T>G | CA516674454 | IQSEC2 | c.1075A>C (p.Arg359=) c.205A>C (p.Arg69=) c.916A>C (p.Arg306=) c.886A>C (p.Arg296=) c.301A>C (p.Arg101=) c.1012A>C (p.Arg338=) c.238A>C (p.Arg80=) n.1239A>C c.418A>C (p.Arg140=) n.1233A>C | |
X | g.53255884C>A | CA516674458 | IQSEC2 | c.1074G>T (p.Leu358=) c.204G>T (p.Leu68=) c.915G>T (p.Leu305=) c.885G>T (p.Leu295=) c.300G>T (p.Leu100=) c.1011G>T (p.Leu337=) c.237G>T (p.Leu79=) n.1238G>T c.417G>T (p.Leu139=) n.1232G>T | |
X | g.53255884C>G | CA516674459 | IQSEC2 | c.1074G>C (p.Leu358=) c.204G>C (p.Leu68=) c.915G>C (p.Leu305=) c.885G>C (p.Leu295=) c.300G>C (p.Leu100=) c.1011G>C (p.Leu337=) c.237G>C (p.Leu79=) n.1238G>C c.417G>C (p.Leu139=) n.1232G>C | |
X | g.53255884C>T | CA516674460 | IQSEC2 | c.1074G>A (p.Leu358=) c.204G>A (p.Leu68=) c.915G>A (p.Leu305=) c.885G>A (p.Leu295=) c.300G>A (p.Leu100=) c.1011G>A (p.Leu337=) c.237G>A (p.Leu79=) n.1238G>A c.417G>A (p.Leu139=) n.1232G>A | |
X | g.53255885A>C | CA413171484 | IQSEC2 | c.1073T>G (p.Leu358Arg) c.203T>G (p.Leu68Arg) c.914T>G (p.Leu305Arg) c.884T>G (p.Leu295Arg) c.299T>G (p.Leu100Arg) c.1010T>G (p.Leu337Arg) c.236T>G (p.Leu79Arg) n.1237T>G c.416T>G (p.Leu139Arg) n.1231T>G | |
X | g.53255885A>G | CA413171485 | IQSEC2 | c.1073T>C (p.Leu358Pro) c.203T>C (p.Leu68Pro) c.914T>C (p.Leu305Pro) c.884T>C (p.Leu295Pro) c.299T>C (p.Leu100Pro) c.1010T>C (p.Leu337Pro) c.236T>C (p.Leu79Pro) n.1237T>C c.416T>C (p.Leu139Pro) n.1231T>C | gnomAD v4 |
X | g.53255885A>T | CA413171486 | IQSEC2 | c.1073T>A (p.Leu358Gln) c.203T>A (p.Leu68Gln) c.914T>A (p.Leu305Gln) c.884T>A (p.Leu295Gln) c.299T>A (p.Leu100Gln) c.1010T>A (p.Leu337Gln) c.236T>A (p.Leu79Gln) n.1237T>A c.416T>A (p.Leu139Gln) n.1231T>A | |
X | g.53255886G>A | CA516674469 | IQSEC2 | c.1072C>T (p.Leu358=) c.202C>T (p.Leu68=) c.913C>T (p.Leu305=) c.883C>T (p.Leu295=) c.298C>T (p.Leu100=) c.1009C>T (p.Leu337=) c.235C>T (p.Leu79=) n.1236C>T c.415C>T (p.Leu139=) n.1230C>T | gnomAD v4 |
X | g.53255886G>C | CA413171488 | IQSEC2 | c.1072C>G (p.Leu358Val) c.202C>G (p.Leu68Val) c.913C>G (p.Leu305Val) c.883C>G (p.Leu295Val) c.298C>G (p.Leu100Val) c.1009C>G (p.Leu337Val) c.235C>G (p.Leu79Val) n.1236C>G c.415C>G (p.Leu139Val) n.1230C>G | |
X | g.53255886G>T | CA413171491 | IQSEC2 | c.1072C>A (p.Leu358Met) c.202C>A (p.Leu68Met) c.913C>A (p.Leu305Met) c.883C>A (p.Leu295Met) c.298C>A (p.Leu100Met) c.1009C>A (p.Leu337Met) c.235C>A (p.Leu79Met) n.1236C>A c.415C>A (p.Leu139Met) n.1230C>A | |
X | g.53255887G>A | CA516674431 | IQSEC2 | c.1071C>T (p.Ala357=) c.201C>T (p.Ala67=) c.912C>T (p.Ala304=) c.882C>T (p.Ala294=) c.297C>T (p.Ala99=) c.1008C>T (p.Ala336=) c.234C>T (p.Ala78=) n.1235C>T c.414C>T (p.Ala138=) n.1229C>T | ClinVar dbSNP gnomAD v4 |
X | g.53255887G>C | CA516674434 | IQSEC2 | c.1071C>G (p.Ala357=) c.201C>G (p.Ala67=) c.912C>G (p.Ala304=) c.882C>G (p.Ala294=) c.297C>G (p.Ala99=) c.1008C>G (p.Ala336=) c.234C>G (p.Ala78=) n.1235C>G c.414C>G (p.Ala138=) n.1229C>G | |
X | g.53255887G>T | CA516674435 | IQSEC2 | c.1071C>A (p.Ala357=) c.201C>A (p.Ala67=) c.912C>A (p.Ala304=) c.882C>A (p.Ala294=) c.297C>A (p.Ala99=) c.1008C>A (p.Ala336=) c.234C>A (p.Ala78=) n.1235C>A c.414C>A (p.Ala138=) n.1229C>A | |
X | g.53255888G>A | CA413171493 | IQSEC2 | c.1070C>T (p.Ala357Val) c.200C>T (p.Ala67Val) c.911C>T (p.Ala304Val) c.881C>T (p.Ala294Val) c.296C>T (p.Ala99Val) c.1007C>T (p.Ala336Val) c.233C>T (p.Ala78Val) n.1234C>T c.413C>T (p.Ala138Val) n.1228C>T | COSMIC COSMIC COSMIC |
X | g.53255888G>C | CA413171494 | IQSEC2 | c.1070C>G (p.Ala357Gly) c.200C>G (p.Ala67Gly) c.911C>G (p.Ala304Gly) c.881C>G (p.Ala294Gly) c.296C>G (p.Ala99Gly) c.1007C>G (p.Ala336Gly) c.233C>G (p.Ala78Gly) n.1234C>G c.413C>G (p.Ala138Gly) n.1228C>G | |
X | g.53255888G>T | CA413171496 | IQSEC2 | c.1070C>A (p.Ala357Asp) c.200C>A (p.Ala67Asp) c.911C>A (p.Ala304Asp) c.881C>A (p.Ala294Asp) c.296C>A (p.Ala99Asp) c.1007C>A (p.Ala336Asp) c.233C>A (p.Ala78Asp) n.1234C>A c.413C>A (p.Ala138Asp) n.1228C>A | |
X | g.53255889C>A | CA10420128 | IQSEC2 | c.1069G>T (p.Ala357Ser) c.199G>T (p.Ala67Ser) c.910G>T (p.Ala304Ser) c.880G>T (p.Ala294Ser) c.295G>T (p.Ala99Ser) c.1006G>T (p.Ala336Ser) c.232G>T (p.Ala78Ser) n.1233G>T c.412G>T (p.Ala138Ser) n.1227G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53255889C= | CA2429777187 | IQSEC2 | c.1069G= (p.Ala357=) c.199G= (p.Ala67=) c.910G= (p.Ala304=) c.880G= (p.Ala294=) c.295G= (p.Ala99=) c.1006G= (p.Ala336=) c.232G= (p.Ala78=) n.1233G= c.412G= (p.Ala138=) n.1227G= | |
X | g.53255889C>G | CA413171504 | IQSEC2 | c.1069G>C (p.Ala357Pro) c.199G>C (p.Ala67Pro) c.910G>C (p.Ala304Pro) c.880G>C (p.Ala294Pro) c.295G>C (p.Ala99Pro) c.1006G>C (p.Ala336Pro) c.232G>C (p.Ala78Pro) n.1233G>C c.412G>C (p.Ala138Pro) n.1227G>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.53255889C>T | CA413171499 | IQSEC2 | c.1069G>A (p.Ala357Thr) c.199G>A (p.Ala67Thr) c.910G>A (p.Ala304Thr) c.880G>A (p.Ala294Thr) c.295G>A (p.Ala99Thr) c.1006G>A (p.Ala336Thr) c.232G>A (p.Ala78Thr) n.1233G>A c.412G>A (p.Ala138Thr) n.1227G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255890G>A | CA10420129 | IQSEC2 | c.1068C>T (p.Val356=) c.198C>T (p.Val66=) c.909C>T (p.Val303=) c.879C>T (p.Val293=) c.294C>T (p.Val98=) c.1005C>T (p.Val335=) c.231C>T (p.Val77=) n.1232C>T c.411C>T (p.Val137=) n.1226C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53255890G>C | CA516674441 | IQSEC2 | c.1068C>G (p.Val356=) c.198C>G (p.Val66=) c.909C>G (p.Val303=) c.879C>G (p.Val293=) c.294C>G (p.Val98=) c.1005C>G (p.Val335=) c.231C>G (p.Val77=) n.1232C>G c.411C>G (p.Val137=) n.1226C>G | |
X | g.53255890G= | CA2429777188 | IQSEC2 | c.1068C= (p.Val356=) c.198C= (p.Val66=) c.909C= (p.Val303=) c.879C= (p.Val293=) c.294C= (p.Val98=) c.1005C= (p.Val335=) c.231C= (p.Val77=) n.1232C= c.411C= (p.Val137=) n.1226C= | |
X | g.53255890G>T | CA516674443 | IQSEC2 | c.1068C>A (p.Val356=) c.198C>A (p.Val66=) c.909C>A (p.Val303=) c.879C>A (p.Val293=) c.294C>A (p.Val98=) c.1005C>A (p.Val335=) c.231C>A (p.Val77=) n.1232C>A c.411C>A (p.Val137=) n.1226C>A | gnomAD v4 |
X | g.53255891A>C | CA413171508 | IQSEC2 | c.1067T>G (p.Val356Gly) c.197T>G (p.Val66Gly) c.908T>G (p.Val303Gly) c.878T>G (p.Val293Gly) c.293T>G (p.Val98Gly) c.1004T>G (p.Val335Gly) c.230T>G (p.Val77Gly) n.1231T>G c.410T>G (p.Val137Gly) n.1225T>G | ClinVar |
X | g.53255891A>G | CA413171514 | IQSEC2 | c.1067T>C (p.Val356Ala) c.197T>C (p.Val66Ala) c.908T>C (p.Val303Ala) c.878T>C (p.Val293Ala) c.293T>C (p.Val98Ala) c.1004T>C (p.Val335Ala) c.230T>C (p.Val77Ala) n.1231T>C c.410T>C (p.Val137Ala) n.1225T>C | |
X | g.53255891A>T | CA413171517 | IQSEC2 | c.1067T>A (p.Val356Asp) c.197T>A (p.Val66Asp) c.908T>A (p.Val303Asp) c.878T>A (p.Val293Asp) c.293T>A (p.Val98Asp) c.1004T>A (p.Val335Asp) c.230T>A (p.Val77Asp) n.1231T>A c.410T>A (p.Val137Asp) n.1225T>A | gnomAD v4 |
X | g.53255892C>A | CA413171523 | IQSEC2 | c.1066G>T (p.Val356Phe) c.196G>T (p.Val66Phe) c.907G>T (p.Val303Phe) c.877G>T (p.Val293Phe) c.292G>T (p.Val98Phe) c.1003G>T (p.Val335Phe) c.229G>T (p.Val77Phe) n.1230G>T c.409G>T (p.Val137Phe) n.1224G>T | |
X | g.53255892C>G | CA413171526 | IQSEC2 | c.1066G>C (p.Val356Leu) c.196G>C (p.Val66Leu) c.907G>C (p.Val303Leu) c.877G>C (p.Val293Leu) c.292G>C (p.Val98Leu) c.1003G>C (p.Val335Leu) c.229G>C (p.Val77Leu) n.1230G>C c.409G>C (p.Val137Leu) n.1224G>C | |
X | g.53255892C>T | CA413171528 | IQSEC2 | c.1066G>A (p.Val356Ile) c.196G>A (p.Val66Ile) c.907G>A (p.Val303Ile) c.877G>A (p.Val293Ile) c.292G>A (p.Val98Ile) c.1003G>A (p.Val335Ile) c.229G>A (p.Val77Ile) n.1230G>A c.409G>A (p.Val137Ile) n.1224G>A | gnomAD v4 |
X | g.53255893A>C | CA413171529 | IQSEC2 | c.1065T>G (p.Ser355Arg) c.195T>G (p.Ser65Arg) c.906T>G (p.Ser302Arg) c.876T>G (p.Ser292Arg) c.291T>G (p.Ser97Arg) c.1002T>G (p.Ser334Arg) c.228T>G (p.Ser76Arg) n.1229T>G c.408T>G (p.Ser136Arg) n.1223T>G | |
X | g.53255893A>G | CA516674449 | IQSEC2 | c.1065T>C (p.Ser355=) c.195T>C (p.Ser65=) c.906T>C (p.Ser302=) c.876T>C (p.Ser292=) c.291T>C (p.Ser97=) c.1002T>C (p.Ser334=) c.228T>C (p.Ser76=) n.1229T>C c.408T>C (p.Ser136=) n.1223T>C | |
X | g.53255893A>T | CA413171531 | IQSEC2 | c.1065T>A (p.Ser355Arg) c.195T>A (p.Ser65Arg) c.906T>A (p.Ser302Arg) c.876T>A (p.Ser292Arg) c.291T>A (p.Ser97Arg) c.1002T>A (p.Ser334Arg) c.228T>A (p.Ser76Arg) n.1229T>A c.408T>A (p.Ser136Arg) n.1223T>A | |
X | g.53255894C>A | CA413171533 | IQSEC2 | c.1064G>T (p.Ser355Ile) c.194G>T (p.Ser65Ile) c.905G>T (p.Ser302Ile) c.875G>T (p.Ser292Ile) c.290G>T (p.Ser97Ile) c.1001G>T (p.Ser334Ile) c.227G>T (p.Ser76Ile) n.1228G>T c.407G>T (p.Ser136Ile) n.1222G>T | |
X | g.53255894C>G | CA413171535 | IQSEC2 | c.1064G>C (p.Ser355Thr) c.194G>C (p.Ser65Thr) c.905G>C (p.Ser302Thr) c.875G>C (p.Ser292Thr) c.290G>C (p.Ser97Thr) c.1001G>C (p.Ser334Thr) c.227G>C (p.Ser76Thr) n.1228G>C c.407G>C (p.Ser136Thr) n.1222G>C | |
X | g.53255894C>T | CA413171536 | IQSEC2 | c.1064G>A (p.Ser355Asn) c.194G>A (p.Ser65Asn) c.905G>A (p.Ser302Asn) c.875G>A (p.Ser292Asn) c.290G>A (p.Ser97Asn) c.1001G>A (p.Ser334Asn) c.227G>A (p.Ser76Asn) n.1228G>A c.407G>A (p.Ser136Asn) n.1222G>A | |
X | g.53255895T>A | CA413171541 | IQSEC2 | c.1063A>T (p.Ser355Cys) c.193A>T (p.Ser65Cys) c.904A>T (p.Ser302Cys) c.874A>T (p.Ser292Cys) c.289A>T (p.Ser97Cys) c.1000A>T (p.Ser334Cys) c.226A>T (p.Ser76Cys) n.1227A>T c.406A>T (p.Ser136Cys) n.1221A>T | |
X | g.53255895T>C | CA413171540 | IQSEC2 | c.1063A>G (p.Ser355Gly) c.193A>G (p.Ser65Gly) c.904A>G (p.Ser302Gly) c.874A>G (p.Ser292Gly) c.289A>G (p.Ser97Gly) c.1000A>G (p.Ser334Gly) c.226A>G (p.Ser76Gly) n.1227A>G c.406A>G (p.Ser136Gly) n.1221A>G | |
X | g.53255895T>G | CA413171539 | IQSEC2 | c.1063A>C (p.Ser355Arg) c.193A>C (p.Ser65Arg) c.904A>C (p.Ser302Arg) c.874A>C (p.Ser292Arg) c.289A>C (p.Ser97Arg) c.1000A>C (p.Ser334Arg) c.226A>C (p.Ser76Arg) n.1227A>C c.406A>C (p.Ser136Arg) n.1221A>C | |
X | g.53255896G>A | CA516674456 | IQSEC2 | c.1062C>T (p.Ala354=) c.192C>T (p.Ala64=) c.903C>T (p.Ala301=) c.873C>T (p.Ala291=) c.288C>T (p.Ala96=) c.999C>T (p.Ala333=) c.225C>T (p.Ala75=) n.1226C>T c.405C>T (p.Ala135=) n.1220C>T | |
X | g.53255896G>C | CA10420130 | IQSEC2 | c.1062C>G (p.Ala354=) c.192C>G (p.Ala64=) c.903C>G (p.Ala301=) c.873C>G (p.Ala291=) c.288C>G (p.Ala96=) c.999C>G (p.Ala333=) c.225C>G (p.Ala75=) n.1226C>G c.405C>G (p.Ala135=) n.1220C>G | ClinVar dbSNP ExAC gnomAD v2 |
X | g.53255896G= | CA2429777189 | IQSEC2 | c.1062C= (p.Ala354=) c.192C= (p.Ala64=) c.903C= (p.Ala301=) c.873C= (p.Ala291=) c.288C= (p.Ala96=) c.999C= (p.Ala333=) c.225C= (p.Ala75=) n.1226C= c.405C= (p.Ala135=) n.1220C= | |
X | g.53255896G>T | CA516674453 | IQSEC2 | c.1062C>A (p.Ala354=) c.192C>A (p.Ala64=) c.903C>A (p.Ala301=) c.873C>A (p.Ala291=) c.288C>A (p.Ala96=) c.999C>A (p.Ala333=) c.225C>A (p.Ala75=) n.1226C>A c.405C>A (p.Ala135=) n.1220C>A | |
X | g.53255897del | CA2739273508 | IQSEC2 | c.1062del (p.Ser355ValfsTer4) c.192del (p.Ser65ValfsTer4) c.903del (p.Ser302ValfsTer4) c.873del (p.Ser292ValfsTer4) c.288del (p.Ser97ValfsTer4) c.999del (p.Ser334ValfsTer4) c.225del (p.Ser76ValfsTer4) n.1226del c.405del (p.Ser136ValfsTer4) n.1220del | ClinVar |
X | g.53255897G>A | CA413171544 | IQSEC2 | c.1061C>T (p.Ala354Val) c.191C>T (p.Ala64Val) c.902C>T (p.Ala301Val) c.872C>T (p.Ala291Val) c.287C>T (p.Ala96Val) c.998C>T (p.Ala333Val) c.224C>T (p.Ala75Val) n.1225C>T c.404C>T (p.Ala135Val) n.1219C>T | |
X | g.53255897G>C | CA413171548 | IQSEC2 | c.1061C>G (p.Ala354Gly) c.191C>G (p.Ala64Gly) c.902C>G (p.Ala301Gly) c.872C>G (p.Ala291Gly) c.287C>G (p.Ala96Gly) c.998C>G (p.Ala333Gly) c.224C>G (p.Ala75Gly) n.1225C>G c.404C>G (p.Ala135Gly) n.1219C>G | |
X | g.53255897G>T | CA413171550 | IQSEC2 | c.1061C>A (p.Ala354Asp) c.191C>A (p.Ala64Asp) c.902C>A (p.Ala301Asp) c.872C>A (p.Ala291Asp) c.287C>A (p.Ala96Asp) c.998C>A (p.Ala333Asp) c.224C>A (p.Ala75Asp) n.1225C>A c.404C>A (p.Ala135Asp) n.1219C>A | |
X | g.53255898C>A | CA413171552 | IQSEC2 | c.1060G>T (p.Ala354Ser) c.190G>T (p.Ala64Ser) c.901G>T (p.Ala301Ser) c.871G>T (p.Ala291Ser) c.286G>T (p.Ala96Ser) c.997G>T (p.Ala333Ser) c.223G>T (p.Ala75Ser) n.1224G>T c.403G>T (p.Ala135Ser) n.1218G>T | |
X | g.53255898C>G | CA413171553 | IQSEC2 | c.1060G>C (p.Ala354Pro) c.190G>C (p.Ala64Pro) c.901G>C (p.Ala301Pro) c.871G>C (p.Ala291Pro) c.286G>C (p.Ala96Pro) c.997G>C (p.Ala333Pro) c.223G>C (p.Ala75Pro) n.1224G>C c.403G>C (p.Ala135Pro) n.1218G>C | |
X | g.53255898C>T | CA413171554 | IQSEC2 | c.1060G>A (p.Ala354Thr) c.190G>A (p.Ala64Thr) c.901G>A (p.Ala301Thr) c.871G>A (p.Ala291Thr) c.286G>A (p.Ala96Thr) c.997G>A (p.Ala333Thr) c.223G>A (p.Ala75Thr) n.1224G>A c.403G>A (p.Ala135Thr) n.1218G>A | |
X | g.53255899T>A | CA516674464 | IQSEC2 | c.1059A>T (p.Pro353=) c.189A>T (p.Pro63=) c.900A>T (p.Pro300=) c.870A>T (p.Pro290=) c.285A>T (p.Pro95=) c.996A>T (p.Pro332=) c.222A>T (p.Pro74=) n.1223A>T c.402A>T (p.Pro134=) n.1217A>T | |
X | g.53255899T>C | CA516674465 | IQSEC2 | c.1059A>G (p.Pro353=) c.189A>G (p.Pro63=) c.900A>G (p.Pro300=) c.870A>G (p.Pro290=) c.285A>G (p.Pro95=) c.996A>G (p.Pro332=) c.222A>G (p.Pro74=) n.1223A>G c.402A>G (p.Pro134=) n.1217A>G | gnomAD v4 |
X | g.53255899T>G | CA516674467 | IQSEC2 | c.1059A>C (p.Pro353=) c.189A>C (p.Pro63=) c.900A>C (p.Pro300=) c.870A>C (p.Pro290=) c.285A>C (p.Pro95=) c.996A>C (p.Pro332=) c.222A>C (p.Pro74=) n.1223A>C c.402A>C (p.Pro134=) n.1217A>C | |
X | g.53255900G>A | CA413171556 | IQSEC2 | c.1058C>T (p.Pro353Leu) c.188C>T (p.Pro63Leu) c.899C>T (p.Pro300Leu) c.869C>T (p.Pro290Leu) c.284C>T (p.Pro95Leu) c.995C>T (p.Pro332Leu) c.221C>T (p.Pro74Leu) n.1222C>T c.401C>T (p.Pro134Leu) n.1216C>T | |
X | g.53255900G>C | CA413171558 | IQSEC2 | c.1058C>G (p.Pro353Arg) c.188C>G (p.Pro63Arg) c.899C>G (p.Pro300Arg) c.869C>G (p.Pro290Arg) c.284C>G (p.Pro95Arg) c.995C>G (p.Pro332Arg) c.221C>G (p.Pro74Arg) n.1222C>G c.401C>G (p.Pro134Arg) n.1216C>G | |
X | g.53255900G>T | CA413171563 | IQSEC2 | c.1058C>A (p.Pro353Gln) c.188C>A (p.Pro63Gln) c.899C>A (p.Pro300Gln) c.869C>A (p.Pro290Gln) c.284C>A (p.Pro95Gln) c.995C>A (p.Pro332Gln) c.221C>A (p.Pro74Gln) n.1222C>A c.401C>A (p.Pro134Gln) n.1216C>A | |
X | g.53255903_53255909dup | CA2695233940 | IQSEC2 | c.1052_1058dup (p.Ala354ProfsTer26) c.182_188dup (p.Ala64ProfsTer26) c.893_899dup (p.Ala301ProfsTer26) c.863_869dup (p.Ala291ProfsTer26) c.278_284dup (p.Ala96ProfsTer26) c.989_995dup (p.Ala333ProfsTer26) c.215_221dup (p.Ala75ProfsTer26) n.1216_1222dup c.395_401dup (p.Ala135ProfsTer26) n.1210_1216dup |