Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113118698G>A | CA7060219 | F7 | c.1025G>A (p.Arg342Gln) c.1091G>A (p.Arg364Gln) c.839G>A (p.Arg280Gln) n.1112G>A c.884G>A (p.Arg295Gln) c.1133G>A (p.Arg378Gln) c.947G>A (p.Arg316Gln) c.785G>A (p.Arg262Gln) c.1094G>A (p.Arg365Gln) c.929G>A (p.Arg310Gln) c.1178G>A (p.Arg393Gln) c.992G>A (p.Arg331Gln) n.1109G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118698G>C | CA388786321 | F7 | c.1025G>C (p.Arg342Pro) c.1091G>C (p.Arg364Pro) c.839G>C (p.Arg280Pro) n.1112G>C c.884G>C (p.Arg295Pro) c.1133G>C (p.Arg378Pro) c.947G>C (p.Arg316Pro) c.785G>C (p.Arg262Pro) c.1094G>C (p.Arg365Pro) c.929G>C (p.Arg310Pro) c.1178G>C (p.Arg393Pro) c.992G>C (p.Arg331Pro) n.1109G>C | |
13 | g.113118698G= | CA2120142455 | F7 | c.1025G= (p.Arg342=) c.1091G= (p.Arg364=) c.839G= (p.Arg280=) n.1112G= c.884G= (p.Arg295=) c.1133G= (p.Arg378=) c.947G= (p.Arg316=) c.785G= (p.Arg262=) c.1094G= (p.Arg365=) c.929G= (p.Arg310=) c.1178G= (p.Arg393=) c.992G= (p.Arg331=) n.1109G= | |
13 | g.113118698G>T | CA388786322 | F7 | c.1025G>T (p.Arg342Leu) c.1091G>T (p.Arg364Leu) c.839G>T (p.Arg280Leu) n.1112G>T c.884G>T (p.Arg295Leu) c.1133G>T (p.Arg378Leu) c.947G>T (p.Arg316Leu) c.785G>T (p.Arg262Leu) c.1094G>T (p.Arg365Leu) c.929G>T (p.Arg310Leu) c.1178G>T (p.Arg393Leu) c.992G>T (p.Arg331Leu) n.1109G>T | |
13 | g.113118699G>A | CA485423998 | F7 | c.1026G>A (p.Arg342=) c.1092G>A (p.Arg364=) c.840G>A (p.Arg280=) n.1113G>A c.885G>A (p.Arg295=) c.1134G>A (p.Arg378=) c.948G>A (p.Arg316=) c.786G>A (p.Arg262=) c.1095G>A (p.Arg365=) c.930G>A (p.Arg310=) c.1179G>A (p.Arg393=) c.993G>A (p.Arg331=) n.1110G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118699G>C | CA485424000 | F7 | c.1026G>C (p.Arg342=) c.1092G>C (p.Arg364=) c.840G>C (p.Arg280=) n.1113G>C c.885G>C (p.Arg295=) c.1134G>C (p.Arg378=) c.948G>C (p.Arg316=) c.786G>C (p.Arg262=) c.1095G>C (p.Arg365=) c.930G>C (p.Arg310=) c.1179G>C (p.Arg393=) c.993G>C (p.Arg331=) n.1110G>C | |
13 | g.113118699G= | CA2120142460 | F7 | c.1026G= (p.Arg342=) c.1092G= (p.Arg364=) c.840G= (p.Arg280=) n.1113G= c.885G= (p.Arg295=) c.1134G= (p.Arg378=) c.948G= (p.Arg316=) c.786G= (p.Arg262=) c.1095G= (p.Arg365=) c.930G= (p.Arg310=) c.1179G= (p.Arg393=) c.993G= (p.Arg331=) n.1110G= | |
13 | g.113118699G>T | CA485423999 | F7 | c.1026G>T (p.Arg342=) c.1092G>T (p.Arg364=) c.840G>T (p.Arg280=) n.1113G>T c.885G>T (p.Arg295=) c.1134G>T (p.Arg378=) c.948G>T (p.Arg316=) c.786G>T (p.Arg262=) c.1095G>T (p.Arg365=) c.930G>T (p.Arg310=) c.1179G>T (p.Arg393=) c.993G>T (p.Arg331=) n.1110G>T | |
13 | g.113118700C>A | CA388786323 | F7 | c.1027C>A (p.Leu343Met) c.1093C>A (p.Leu365Met) c.841C>A (p.Leu281Met) n.1114C>A c.886C>A (p.Leu296Met) c.1135C>A (p.Leu379Met) c.949C>A (p.Leu317Met) c.787C>A (p.Leu263Met) c.1096C>A (p.Leu366Met) c.931C>A (p.Leu311Met) c.1180C>A (p.Leu394Met) c.994C>A (p.Leu332Met) n.1111C>A | |
13 | g.113118700C>G | CA388786324 | F7 | c.1027C>G (p.Leu343Val) c.1093C>G (p.Leu365Val) c.841C>G (p.Leu281Val) n.1114C>G c.886C>G (p.Leu296Val) c.1135C>G (p.Leu379Val) c.949C>G (p.Leu317Val) c.787C>G (p.Leu263Val) c.1096C>G (p.Leu366Val) c.931C>G (p.Leu311Val) c.1180C>G (p.Leu394Val) c.994C>G (p.Leu332Val) n.1111C>G | |
13 | g.113118700C>T | CA485424001 | F7 | c.1027C>T (p.Leu343=) c.1093C>T (p.Leu365=) c.841C>T (p.Leu281=) n.1114C>T c.886C>T (p.Leu296=) c.1135C>T (p.Leu379=) c.949C>T (p.Leu317=) c.787C>T (p.Leu263=) c.1096C>T (p.Leu366=) c.931C>T (p.Leu311=) c.1180C>T (p.Leu394=) c.994C>T (p.Leu332=) n.1111C>T | |
13 | g.113118701T>A | CA388786325 | F7 | c.1028T>A (p.Leu343Gln) c.1094T>A (p.Leu365Gln) c.842T>A (p.Leu281Gln) n.1115T>A c.887T>A (p.Leu296Gln) c.1136T>A (p.Leu379Gln) c.950T>A (p.Leu317Gln) c.788T>A (p.Leu263Gln) c.1097T>A (p.Leu366Gln) c.932T>A (p.Leu311Gln) c.1181T>A (p.Leu394Gln) c.995T>A (p.Leu332Gln) n.1112T>A | |
13 | g.113118701T>C | CA388786326 | F7 | c.1028T>C (p.Leu343Pro) c.1094T>C (p.Leu365Pro) c.842T>C (p.Leu281Pro) n.1115T>C c.887T>C (p.Leu296Pro) c.1136T>C (p.Leu379Pro) c.950T>C (p.Leu317Pro) c.788T>C (p.Leu263Pro) c.1097T>C (p.Leu366Pro) c.932T>C (p.Leu311Pro) c.1181T>C (p.Leu394Pro) c.995T>C (p.Leu332Pro) n.1112T>C | |
13 | g.113118701T>G | CA388786327 | F7 | c.1028T>G (p.Leu343Arg) c.1094T>G (p.Leu365Arg) c.842T>G (p.Leu281Arg) n.1115T>G c.887T>G (p.Leu296Arg) c.1136T>G (p.Leu379Arg) c.950T>G (p.Leu317Arg) c.788T>G (p.Leu263Arg) c.1097T>G (p.Leu366Arg) c.932T>G (p.Leu311Arg) c.1181T>G (p.Leu394Arg) c.995T>G (p.Leu332Arg) n.1112T>G | |
13 | g.113118702G>A | CA485424002 | F7 | c.1029G>A (p.Leu343=) c.1095G>A (p.Leu365=) c.843G>A (p.Leu281=) n.1116G>A c.888G>A (p.Leu296=) c.1137G>A (p.Leu379=) c.951G>A (p.Leu317=) c.789G>A (p.Leu263=) c.1098G>A (p.Leu366=) c.933G>A (p.Leu311=) c.1182G>A (p.Leu394=) c.996G>A (p.Leu332=) n.1113G>A | |
13 | g.113118702G>C | CA485424003 | F7 | c.1029G>C (p.Leu343=) c.1095G>C (p.Leu365=) c.843G>C (p.Leu281=) n.1116G>C c.888G>C (p.Leu296=) c.1137G>C (p.Leu379=) c.951G>C (p.Leu317=) c.789G>C (p.Leu263=) c.1098G>C (p.Leu366=) c.933G>C (p.Leu311=) c.1182G>C (p.Leu394=) c.996G>C (p.Leu332=) n.1113G>C | gnomAD v4 |
13 | g.113118702G>T | CA485424004 | F7 | c.1029G>T (p.Leu343=) c.1095G>T (p.Leu365=) c.843G>T (p.Leu281=) n.1116G>T c.888G>T (p.Leu296=) c.1137G>T (p.Leu379=) c.951G>T (p.Leu317=) c.789G>T (p.Leu263=) c.1098G>T (p.Leu366=) c.933G>T (p.Leu311=) c.1182G>T (p.Leu394=) c.996G>T (p.Leu332=) n.1113G>T | |
13 | g.113118703A>C | CA388786328 | F7 | c.1030A>C (p.Met344Leu) c.1096A>C (p.Met366Leu) c.844A>C (p.Met282Leu) n.1117A>C c.889A>C (p.Met297Leu) c.1138A>C (p.Met380Leu) c.952A>C (p.Met318Leu) c.790A>C (p.Met264Leu) c.1099A>C (p.Met367Leu) c.934A>C (p.Met312Leu) c.1183A>C (p.Met395Leu) c.997A>C (p.Met333Leu) n.1114A>C | |
13 | g.113118703A>G | CA388786330 | F7 | c.1030A>G (p.Met344Val) c.1096A>G (p.Met366Val) c.844A>G (p.Met282Val) n.1117A>G c.889A>G (p.Met297Val) c.1138A>G (p.Met380Val) c.952A>G (p.Met318Val) c.790A>G (p.Met264Val) c.1099A>G (p.Met367Val) c.934A>G (p.Met312Val) c.1183A>G (p.Met395Val) c.997A>G (p.Met333Val) n.1114A>G | |
13 | g.113118703A>T | CA388786329 | F7 | c.1030A>T (p.Met344Leu) c.1096A>T (p.Met366Leu) c.844A>T (p.Met282Leu) n.1117A>T c.889A>T (p.Met297Leu) c.1138A>T (p.Met380Leu) c.952A>T (p.Met318Leu) c.790A>T (p.Met264Leu) c.1099A>T (p.Met367Leu) c.934A>T (p.Met312Leu) c.1183A>T (p.Met395Leu) c.997A>T (p.Met333Leu) n.1114A>T | |
13 | g.113118704T>A | CA388786331 | F7 | c.1031T>A (p.Met344Lys) c.1097T>A (p.Met366Lys) c.845T>A (p.Met282Lys) n.1118T>A c.890T>A (p.Met297Lys) c.1139T>A (p.Met380Lys) c.953T>A (p.Met318Lys) c.791T>A (p.Met264Lys) c.1100T>A (p.Met367Lys) c.935T>A (p.Met312Lys) c.1184T>A (p.Met395Lys) c.998T>A (p.Met333Lys) n.1115T>A | |
13 | g.113118704T>C | CA388786332 | F7 | c.1031T>C (p.Met344Thr) c.1097T>C (p.Met366Thr) c.845T>C (p.Met282Thr) n.1118T>C c.890T>C (p.Met297Thr) c.1139T>C (p.Met380Thr) c.953T>C (p.Met318Thr) c.791T>C (p.Met264Thr) c.1100T>C (p.Met367Thr) c.935T>C (p.Met312Thr) c.1184T>C (p.Met395Thr) c.998T>C (p.Met333Thr) n.1115T>C | |
13 | g.113118704T>G | CA388786333 | F7 | c.1031T>G (p.Met344Arg) c.1097T>G (p.Met366Arg) c.845T>G (p.Met282Arg) n.1118T>G c.890T>G (p.Met297Arg) c.1139T>G (p.Met380Arg) c.953T>G (p.Met318Arg) c.791T>G (p.Met264Arg) c.1100T>G (p.Met367Arg) c.935T>G (p.Met312Arg) c.1184T>G (p.Met395Arg) c.998T>G (p.Met333Arg) n.1115T>G | |
13 | g.113118705G>A | CA388786334 | F7 | c.1032G>A (p.Met344Ile) c.1098G>A (p.Met366Ile) c.846G>A (p.Met282Ile) n.1119G>A c.891G>A (p.Met297Ile) c.1140G>A (p.Met380Ile) c.954G>A (p.Met318Ile) c.792G>A (p.Met264Ile) c.1101G>A (p.Met367Ile) c.936G>A (p.Met312Ile) c.1185G>A (p.Met395Ile) c.999G>A (p.Met333Ile) n.1116G>A | |
13 | g.113118705G>C | CA388786335 | F7 | c.1032G>C (p.Met344Ile) c.1098G>C (p.Met366Ile) c.846G>C (p.Met282Ile) n.1119G>C c.891G>C (p.Met297Ile) c.1140G>C (p.Met380Ile) c.954G>C (p.Met318Ile) c.792G>C (p.Met264Ile) c.1101G>C (p.Met367Ile) c.936G>C (p.Met312Ile) c.1185G>C (p.Met395Ile) c.999G>C (p.Met333Ile) n.1116G>C | |
13 | g.113118705G>T | CA388786336 | F7 | c.1032G>T (p.Met344Ile) c.1098G>T (p.Met366Ile) c.846G>T (p.Met282Ile) n.1119G>T c.891G>T (p.Met297Ile) c.1140G>T (p.Met380Ile) c.954G>T (p.Met318Ile) c.792G>T (p.Met264Ile) c.1101G>T (p.Met367Ile) c.936G>T (p.Met312Ile) c.1185G>T (p.Met395Ile) c.999G>T (p.Met333Ile) n.1116G>T | |
13 | g.113118706A= | CA2120142464 | F7 | c.1033A= (p.Thr345=) c.1099A= (p.Thr367=) c.847A= (p.Thr283=) n.1120A= c.892A= (p.Thr298=) c.1141A= (p.Thr381=) c.955A= (p.Thr319=) c.793A= (p.Thr265=) c.1102A= (p.Thr368=) c.937A= (p.Thr313=) c.1186A= (p.Thr396=) c.1000A= (p.Thr334=) n.1117A= | |
13 | g.113118706A>C | CA388786337 | F7 | c.1033A>C (p.Thr345Pro) c.1099A>C (p.Thr367Pro) c.847A>C (p.Thr283Pro) n.1120A>C c.892A>C (p.Thr298Pro) c.1141A>C (p.Thr381Pro) c.955A>C (p.Thr319Pro) c.793A>C (p.Thr265Pro) c.1102A>C (p.Thr368Pro) c.937A>C (p.Thr313Pro) c.1186A>C (p.Thr396Pro) c.1000A>C (p.Thr334Pro) n.1117A>C | dbSNP |
13 | g.113118706A>G | CA388786338 | F7 | c.1033A>G (p.Thr345Ala) c.1099A>G (p.Thr367Ala) c.847A>G (p.Thr283Ala) n.1120A>G c.892A>G (p.Thr298Ala) c.1141A>G (p.Thr381Ala) c.955A>G (p.Thr319Ala) c.793A>G (p.Thr265Ala) c.1102A>G (p.Thr368Ala) c.937A>G (p.Thr313Ala) c.1186A>G (p.Thr396Ala) c.1000A>G (p.Thr334Ala) n.1117A>G | |
13 | g.113118706A>T | CA7060220 | F7 | c.1033A>T (p.Thr345Ser) c.1099A>T (p.Thr367Ser) c.847A>T (p.Thr283Ser) n.1120A>T c.892A>T (p.Thr298Ser) c.1141A>T (p.Thr381Ser) c.955A>T (p.Thr319Ser) c.793A>T (p.Thr265Ser) c.1102A>T (p.Thr368Ser) c.937A>T (p.Thr313Ser) c.1186A>T (p.Thr396Ser) c.1000A>T (p.Thr334Ser) n.1117A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118707C>A | CA388786339 | F7 | c.1034C>A (p.Thr345Asn) c.1100C>A (p.Thr367Asn) c.848C>A (p.Thr283Asn) n.1121C>A c.893C>A (p.Thr298Asn) c.1142C>A (p.Thr381Asn) c.956C>A (p.Thr319Asn) c.794C>A (p.Thr265Asn) c.1103C>A (p.Thr368Asn) c.938C>A (p.Thr313Asn) c.1187C>A (p.Thr396Asn) c.1001C>A (p.Thr334Asn) n.1118C>A | |
13 | g.113118707C= | CA2120142470 | F7 | c.1034C= (p.Thr345=) c.1100C= (p.Thr367=) c.848C= (p.Thr283=) n.1121C= c.893C= (p.Thr298=) c.1142C= (p.Thr381=) c.956C= (p.Thr319=) c.794C= (p.Thr265=) c.1103C= (p.Thr368=) c.938C= (p.Thr313=) c.1187C= (p.Thr396=) c.1001C= (p.Thr334=) n.1118C= | |
13 | g.113118707C>G | CA388786340 | F7 | c.1034C>G (p.Thr345Ser) c.1100C>G (p.Thr367Ser) c.848C>G (p.Thr283Ser) n.1121C>G c.893C>G (p.Thr298Ser) c.1142C>G (p.Thr381Ser) c.956C>G (p.Thr319Ser) c.794C>G (p.Thr265Ser) c.1103C>G (p.Thr368Ser) c.938C>G (p.Thr313Ser) c.1187C>G (p.Thr396Ser) c.1001C>G (p.Thr334Ser) n.1118C>G | COSMIC |
13 | g.113118707C>T | CA388786341 | F7 | c.1034C>T (p.Thr345Ile) c.1100C>T (p.Thr367Ile) c.848C>T (p.Thr283Ile) n.1121C>T c.893C>T (p.Thr298Ile) c.1142C>T (p.Thr381Ile) c.956C>T (p.Thr319Ile) c.794C>T (p.Thr265Ile) c.1103C>T (p.Thr368Ile) c.938C>T (p.Thr313Ile) c.1187C>T (p.Thr396Ile) c.1001C>T (p.Thr334Ile) n.1118C>T | dbSNP |
13 | g.113118708C>A | CA485424005 | F7 | c.1035C>A (p.Thr345=) c.1101C>A (p.Thr367=) c.849C>A (p.Thr283=) n.1122C>A c.894C>A (p.Thr298=) c.1143C>A (p.Thr381=) c.957C>A (p.Thr319=) c.795C>A (p.Thr265=) c.1104C>A (p.Thr368=) c.939C>A (p.Thr313=) c.1188C>A (p.Thr396=) c.1002C>A (p.Thr334=) n.1119C>A | |
13 | g.113118708C= | CA2120142474 | F7 | c.1035C= (p.Thr345=) c.1101C= (p.Thr367=) c.849C= (p.Thr283=) n.1122C= c.894C= (p.Thr298=) c.1143C= (p.Thr381=) c.957C= (p.Thr319=) c.795C= (p.Thr265=) c.1104C= (p.Thr368=) c.939C= (p.Thr313=) c.1188C= (p.Thr396=) c.1002C= (p.Thr334=) n.1119C= | |
13 | g.113118708C>G | CA485424006 | F7 | c.1035C>G (p.Thr345=) c.1101C>G (p.Thr367=) c.849C>G (p.Thr283=) n.1122C>G c.894C>G (p.Thr298=) c.1143C>G (p.Thr381=) c.957C>G (p.Thr319=) c.795C>G (p.Thr265=) c.1104C>G (p.Thr368=) c.939C>G (p.Thr313=) c.1188C>G (p.Thr396=) c.1002C>G (p.Thr334=) n.1119C>G | |
13 | g.113118708C>T | CA485424007 | F7 | c.1035C>T (p.Thr345=) c.1101C>T (p.Thr367=) c.849C>T (p.Thr283=) n.1122C>T c.894C>T (p.Thr298=) c.1143C>T (p.Thr381=) c.957C>T (p.Thr319=) c.795C>T (p.Thr265=) c.1104C>T (p.Thr368=) c.939C>T (p.Thr313=) c.1188C>T (p.Thr396=) c.1002C>T (p.Thr334=) n.1119C>T | dbSNP |
13 | g.113118709C>A | CA388786342 | F7 | c.1036C>A (p.Gln346Lys) c.1102C>A (p.Gln368Lys) c.850C>A (p.Gln284Lys) n.1123C>A c.895C>A (p.Gln299Lys) c.1144C>A (p.Gln382Lys) c.958C>A (p.Gln320Lys) c.796C>A (p.Gln266Lys) c.1105C>A (p.Gln369Lys) c.940C>A (p.Gln314Lys) c.1189C>A (p.Gln397Lys) c.1003C>A (p.Gln335Lys) n.1120C>A | |
13 | g.113118709C= | CA2120142477 | F7 | c.1036C= (p.Gln346=) c.1102C= (p.Gln368=) c.850C= (p.Gln284=) n.1123C= c.895C= (p.Gln299=) c.1144C= (p.Gln382=) c.958C= (p.Gln320=) c.796C= (p.Gln266=) c.1105C= (p.Gln369=) c.940C= (p.Gln314=) c.1189C= (p.Gln397=) c.1003C= (p.Gln335=) n.1120C= | |
13 | g.113118709C>G | CA388786343 | F7 | c.1036C>G (p.Gln346Glu) c.1102C>G (p.Gln368Glu) c.850C>G (p.Gln284Glu) n.1123C>G c.895C>G (p.Gln299Glu) c.1144C>G (p.Gln382Glu) c.958C>G (p.Gln320Glu) c.796C>G (p.Gln266Glu) c.1105C>G (p.Gln369Glu) c.940C>G (p.Gln314Glu) c.1189C>G (p.Gln397Glu) c.1003C>G (p.Gln335Glu) n.1120C>G | |
13 | g.113118709C>T | CA256461749 | F7 | c.1036C>T (p.Gln346Ter) c.1102C>T (p.Gln368Ter) c.850C>T (p.Gln284Ter) n.1123C>T c.895C>T (p.Gln299Ter) c.1144C>T (p.Gln382Ter) c.958C>T (p.Gln320Ter) c.796C>T (p.Gln266Ter) c.1105C>T (p.Gln369Ter) c.940C>T (p.Gln314Ter) c.1189C>T (p.Gln397Ter) c.1003C>T (p.Gln335Ter) n.1120C>T | dbSNP gnomAD v4 |
13 | g.113118710A>C | CA388786344 | F7 | c.1037A>C (p.Gln346Pro) c.1103A>C (p.Gln368Pro) c.851A>C (p.Gln284Pro) n.1124A>C c.896A>C (p.Gln299Pro) c.1145A>C (p.Gln382Pro) c.959A>C (p.Gln320Pro) c.797A>C (p.Gln266Pro) c.1106A>C (p.Gln369Pro) c.941A>C (p.Gln314Pro) c.1190A>C (p.Gln397Pro) c.1004A>C (p.Gln335Pro) n.1121A>C | |
13 | g.113118710A>G | CA388786345 | F7 | c.1037A>G (p.Gln346Arg) c.1103A>G (p.Gln368Arg) c.851A>G (p.Gln284Arg) n.1124A>G c.896A>G (p.Gln299Arg) c.1145A>G (p.Gln382Arg) c.959A>G (p.Gln320Arg) c.797A>G (p.Gln266Arg) c.1106A>G (p.Gln369Arg) c.941A>G (p.Gln314Arg) c.1190A>G (p.Gln397Arg) c.1004A>G (p.Gln335Arg) n.1121A>G | |
13 | g.113118710A>T | CA388786346 | F7 | c.1037A>T (p.Gln346Leu) c.1103A>T (p.Gln368Leu) c.851A>T (p.Gln284Leu) n.1124A>T c.896A>T (p.Gln299Leu) c.1145A>T (p.Gln382Leu) c.959A>T (p.Gln320Leu) c.797A>T (p.Gln266Leu) c.1106A>T (p.Gln369Leu) c.941A>T (p.Gln314Leu) c.1190A>T (p.Gln397Leu) c.1004A>T (p.Gln335Leu) n.1121A>T | |
13 | g.113118711G>A | CA7060221 | F7 | c.1038G>A (p.Gln346=) c.1104G>A (p.Gln368=) c.852G>A (p.Gln284=) n.1125G>A c.897G>A (p.Gln299=) c.1146G>A (p.Gln382=) c.960G>A (p.Gln320=) c.798G>A (p.Gln266=) c.1107G>A (p.Gln369=) c.942G>A (p.Gln314=) c.1191G>A (p.Gln397=) c.1005G>A (p.Gln335=) n.1122G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118711G>C | CA388786347 | F7 | c.1038G>C (p.Gln346His) c.1104G>C (p.Gln368His) c.852G>C (p.Gln284His) n.1125G>C c.897G>C (p.Gln299His) c.1146G>C (p.Gln382His) c.960G>C (p.Gln320His) c.798G>C (p.Gln266His) c.1107G>C (p.Gln369His) c.942G>C (p.Gln314His) c.1191G>C (p.Gln397His) c.1005G>C (p.Gln335His) n.1122G>C | |
13 | g.113118711G= | CA2120142485 | F7 | c.1038G= (p.Gln346=) c.1104G= (p.Gln368=) c.852G= (p.Gln284=) n.1125G= c.897G= (p.Gln299=) c.1146G= (p.Gln382=) c.960G= (p.Gln320=) c.798G= (p.Gln266=) c.1107G= (p.Gln369=) c.942G= (p.Gln314=) c.1191G= (p.Gln397=) c.1005G= (p.Gln335=) n.1122G= | |
13 | g.113118711G>T | CA388786348 | F7 | c.1038G>T (p.Gln346His) c.1104G>T (p.Gln368His) c.852G>T (p.Gln284His) n.1125G>T c.897G>T (p.Gln299His) c.1146G>T (p.Gln382His) c.960G>T (p.Gln320His) c.798G>T (p.Gln266His) c.1107G>T (p.Gln369His) c.942G>T (p.Gln314His) c.1191G>T (p.Gln397His) c.1005G>T (p.Gln335His) n.1122G>T | |
13 | g.113118712G>A | CA256461753 | F7 | c.1039G>A (p.Asp347Asn) c.1105G>A (p.Asp369Asn) c.853G>A (p.Asp285Asn) n.1126G>A c.898G>A (p.Asp300Asn) c.1147G>A (p.Asp383Asn) c.961G>A (p.Asp321Asn) c.799G>A (p.Asp267Asn) c.1108G>A (p.Asp370Asn) c.943G>A (p.Asp315Asn) c.1192G>A (p.Asp398Asn) c.1006G>A (p.Asp336Asn) n.1123G>A | dbSNP gnomAD v4 |
13 | g.113118712G>C | CA388786349 | F7 | c.1039G>C (p.Asp347His) c.1105G>C (p.Asp369His) c.853G>C (p.Asp285His) n.1126G>C c.898G>C (p.Asp300His) c.1147G>C (p.Asp383His) c.961G>C (p.Asp321His) c.799G>C (p.Asp267His) c.1108G>C (p.Asp370His) c.943G>C (p.Asp315His) c.1192G>C (p.Asp398His) c.1006G>C (p.Asp336His) n.1123G>C | |
13 | g.113118712G= | CA2120142491 | F7 | c.1039G= (p.Asp347=) c.1105G= (p.Asp369=) c.853G= (p.Asp285=) n.1126G= c.898G= (p.Asp300=) c.1147G= (p.Asp383=) c.961G= (p.Asp321=) c.799G= (p.Asp267=) c.1108G= (p.Asp370=) c.943G= (p.Asp315=) c.1192G= (p.Asp398=) c.1006G= (p.Asp336=) n.1123G= | |
13 | g.113118712G>T | CA388786350 | F7 | c.1039G>T (p.Asp347Tyr) c.1105G>T (p.Asp369Tyr) c.853G>T (p.Asp285Tyr) n.1126G>T c.898G>T (p.Asp300Tyr) c.1147G>T (p.Asp383Tyr) c.961G>T (p.Asp321Tyr) c.799G>T (p.Asp267Tyr) c.1108G>T (p.Asp370Tyr) c.943G>T (p.Asp315Tyr) c.1192G>T (p.Asp398Tyr) c.1006G>T (p.Asp336Tyr) n.1123G>T | |
13 | g.113118713A= | CA2120142498 | F7 | c.1040A= (p.Asp347=) c.1106A= (p.Asp369=) c.854A= (p.Asp285=) n.1127A= c.899A= (p.Asp300=) c.1148A= (p.Asp383=) c.962A= (p.Asp321=) c.800A= (p.Asp267=) c.1109A= (p.Asp370=) c.944A= (p.Asp315=) c.1193A= (p.Asp398=) c.1007A= (p.Asp336=) n.1124A= | |
13 | g.113118713A>C | CA388786351 | F7 | c.1040A>C (p.Asp347Ala) c.1106A>C (p.Asp369Ala) c.854A>C (p.Asp285Ala) n.1127A>C c.899A>C (p.Asp300Ala) c.1148A>C (p.Asp383Ala) c.962A>C (p.Asp321Ala) c.800A>C (p.Asp267Ala) c.1109A>C (p.Asp370Ala) c.944A>C (p.Asp315Ala) c.1193A>C (p.Asp398Ala) c.1007A>C (p.Asp336Ala) n.1124A>C | dbSNP |
13 | g.113118713A>G | CA388786352 | F7 | c.1040A>G (p.Asp347Gly) c.1106A>G (p.Asp369Gly) c.854A>G (p.Asp285Gly) n.1127A>G c.899A>G (p.Asp300Gly) c.1148A>G (p.Asp383Gly) c.962A>G (p.Asp321Gly) c.800A>G (p.Asp267Gly) c.1109A>G (p.Asp370Gly) c.944A>G (p.Asp315Gly) c.1193A>G (p.Asp398Gly) c.1007A>G (p.Asp336Gly) n.1124A>G | |
13 | g.113118713A>T | CA388786353 | F7 | c.1040A>T (p.Asp347Val) c.1106A>T (p.Asp369Val) c.854A>T (p.Asp285Val) n.1127A>T c.899A>T (p.Asp300Val) c.1148A>T (p.Asp383Val) c.962A>T (p.Asp321Val) c.800A>T (p.Asp267Val) c.1109A>T (p.Asp370Val) c.944A>T (p.Asp315Val) c.1193A>T (p.Asp398Val) c.1007A>T (p.Asp336Val) n.1124A>T | |
13 | g.113118714C>A | CA388786355 | F7 | c.1041C>A (p.Asp347Glu) c.1107C>A (p.Asp369Glu) c.855C>A (p.Asp285Glu) n.1128C>A c.900C>A (p.Asp300Glu) c.1149C>A (p.Asp383Glu) c.963C>A (p.Asp321Glu) c.801C>A (p.Asp267Glu) c.1110C>A (p.Asp370Glu) c.945C>A (p.Asp315Glu) c.1194C>A (p.Asp398Glu) c.1008C>A (p.Asp336Glu) n.1125C>A | |
13 | g.113118714C>G | CA388786354 | F7 | c.1041C>G (p.Asp347Glu) c.1107C>G (p.Asp369Glu) c.855C>G (p.Asp285Glu) n.1128C>G c.900C>G (p.Asp300Glu) c.1149C>G (p.Asp383Glu) c.963C>G (p.Asp321Glu) c.801C>G (p.Asp267Glu) c.1110C>G (p.Asp370Glu) c.945C>G (p.Asp315Glu) c.1194C>G (p.Asp398Glu) c.1008C>G (p.Asp336Glu) n.1125C>G | |
13 | g.113118714C>T | CA485424008 | F7 | c.1041C>T (p.Asp347=) c.1107C>T (p.Asp369=) c.855C>T (p.Asp285=) n.1128C>T c.900C>T (p.Asp300=) c.1149C>T (p.Asp383=) c.963C>T (p.Asp321=) c.801C>T (p.Asp267=) c.1110C>T (p.Asp370=) c.945C>T (p.Asp315=) c.1194C>T (p.Asp398=) c.1008C>T (p.Asp336=) n.1125C>T | gnomAD v4 |
13 | g.113118715T>A | CA388786356 | F7 | c.1042T>A (p.Cys348Ser) c.1108T>A (p.Cys370Ser) c.856T>A (p.Cys286Ser) n.1129T>A c.901T>A (p.Cys301Ser) c.1150T>A (p.Cys384Ser) c.964T>A (p.Cys322Ser) c.802T>A (p.Cys268Ser) c.1111T>A (p.Cys371Ser) c.946T>A (p.Cys316Ser) c.1195T>A (p.Cys399Ser) c.1009T>A (p.Cys337Ser) n.1126T>A | |
13 | g.113118715T>C | CA388786357 | F7 | c.1042T>C (p.Cys348Arg) c.1108T>C (p.Cys370Arg) c.856T>C (p.Cys286Arg) n.1129T>C c.901T>C (p.Cys301Arg) c.1150T>C (p.Cys384Arg) c.964T>C (p.Cys322Arg) c.802T>C (p.Cys268Arg) c.1111T>C (p.Cys371Arg) c.946T>C (p.Cys316Arg) c.1195T>C (p.Cys399Arg) c.1009T>C (p.Cys337Arg) n.1126T>C | |
13 | g.113118715T>G | CA388786358 | F7 | c.1042T>G (p.Cys348Gly) c.1108T>G (p.Cys370Gly) c.856T>G (p.Cys286Gly) n.1129T>G c.901T>G (p.Cys301Gly) c.1150T>G (p.Cys384Gly) c.964T>G (p.Cys322Gly) c.802T>G (p.Cys268Gly) c.1111T>G (p.Cys371Gly) c.946T>G (p.Cys316Gly) c.1195T>G (p.Cys399Gly) c.1009T>G (p.Cys337Gly) n.1126T>G | |
13 | g.113118716G>A | CA388786359 | F7 | c.1043G>A (p.Cys348Tyr) c.1109G>A (p.Cys370Tyr) c.857G>A (p.Cys286Tyr) n.1130G>A c.902G>A (p.Cys301Tyr) c.1151G>A (p.Cys384Tyr) c.965G>A (p.Cys322Tyr) c.803G>A (p.Cys268Tyr) c.1112G>A (p.Cys371Tyr) c.947G>A (p.Cys316Tyr) c.1196G>A (p.Cys399Tyr) c.1010G>A (p.Cys337Tyr) n.1127G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118716G>C | CA388786360 | F7 | c.1043G>C (p.Cys348Ser) c.1109G>C (p.Cys370Ser) c.857G>C (p.Cys286Ser) n.1130G>C c.902G>C (p.Cys301Ser) c.1151G>C (p.Cys384Ser) c.965G>C (p.Cys322Ser) c.803G>C (p.Cys268Ser) c.1112G>C (p.Cys371Ser) c.947G>C (p.Cys316Ser) c.1196G>C (p.Cys399Ser) c.1010G>C (p.Cys337Ser) n.1127G>C | |
13 | g.113118716G= | CA2120142502 | F7 | c.1043G= (p.Cys348=) c.1109G= (p.Cys370=) c.857G= (p.Cys286=) n.1130G= c.902G= (p.Cys301=) c.1151G= (p.Cys384=) c.965G= (p.Cys322=) c.803G= (p.Cys268=) c.1112G= (p.Cys371=) c.947G= (p.Cys316=) c.1196G= (p.Cys399=) c.1010G= (p.Cys337=) n.1127G= | |
13 | g.113118716G>T | CA7060222 | F7 | c.1043G>T (p.Cys348Phe) c.1109G>T (p.Cys370Phe) c.857G>T (p.Cys286Phe) n.1130G>T c.902G>T (p.Cys301Phe) c.1151G>T (p.Cys384Phe) c.965G>T (p.Cys322Phe) c.803G>T (p.Cys268Phe) c.1112G>T (p.Cys371Phe) c.947G>T (p.Cys316Phe) c.1196G>T (p.Cys399Phe) c.1010G>T (p.Cys337Phe) n.1127G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118717C>A | CA388786361 | F7 | c.1044C>A (p.Cys348Ter) c.1110C>A (p.Cys370Ter) c.858C>A (p.Cys286Ter) n.1131C>A c.903C>A (p.Cys301Ter) c.1152C>A (p.Cys384Ter) c.966C>A (p.Cys322Ter) c.804C>A (p.Cys268Ter) c.1113C>A (p.Cys371Ter) c.948C>A (p.Cys316Ter) c.1197C>A (p.Cys399Ter) c.1011C>A (p.Cys337Ter) n.1128C>A | |
13 | g.113118717C>G | CA388786362 | F7 | c.1044C>G (p.Cys348Trp) c.1110C>G (p.Cys370Trp) c.858C>G (p.Cys286Trp) n.1131C>G c.903C>G (p.Cys301Trp) c.1152C>G (p.Cys384Trp) c.966C>G (p.Cys322Trp) c.804C>G (p.Cys268Trp) c.1113C>G (p.Cys371Trp) c.948C>G (p.Cys316Trp) c.1197C>G (p.Cys399Trp) c.1011C>G (p.Cys337Trp) n.1128C>G | |
13 | g.113118717C>T | CA485424009 | F7 | c.1044C>T (p.Cys348=) c.1110C>T (p.Cys370=) c.858C>T (p.Cys286=) n.1131C>T c.903C>T (p.Cys301=) c.1152C>T (p.Cys384=) c.966C>T (p.Cys322=) c.804C>T (p.Cys268=) c.1113C>T (p.Cys371=) c.948C>T (p.Cys316=) c.1197C>T (p.Cys399=) c.1011C>T (p.Cys337=) n.1128C>T | gnomAD v4 |
13 | g.113118718C>A | CA388786363 | F7 | c.1045C>A (p.Leu349Met) c.1111C>A (p.Leu371Met) c.859C>A (p.Leu287Met) n.1132C>A c.904C>A (p.Leu302Met) c.1153C>A (p.Leu385Met) c.967C>A (p.Leu323Met) c.805C>A (p.Leu269Met) c.1114C>A (p.Leu372Met) c.949C>A (p.Leu317Met) c.1198C>A (p.Leu400Met) c.1012C>A (p.Leu338Met) n.1129C>A | |
13 | g.113118718C= | CA2120142508 | F7 | c.1045C= (p.Leu349=) c.1111C= (p.Leu371=) c.859C= (p.Leu287=) n.1132C= c.904C= (p.Leu302=) c.1153C= (p.Leu385=) c.967C= (p.Leu323=) c.805C= (p.Leu269=) c.1114C= (p.Leu372=) c.949C= (p.Leu317=) c.1198C= (p.Leu400=) c.1012C= (p.Leu338=) n.1129C= | |
13 | g.113118718C>G | CA388786364 | F7 | c.1045C>G (p.Leu349Val) c.1111C>G (p.Leu371Val) c.859C>G (p.Leu287Val) n.1132C>G c.904C>G (p.Leu302Val) c.1153C>G (p.Leu385Val) c.967C>G (p.Leu323Val) c.805C>G (p.Leu269Val) c.1114C>G (p.Leu372Val) c.949C>G (p.Leu317Val) c.1198C>G (p.Leu400Val) c.1012C>G (p.Leu338Val) n.1129C>G | |
13 | g.113118718C>T | CA485424010 | F7 | c.1045C>T (p.Leu349=) c.1111C>T (p.Leu371=) c.859C>T (p.Leu287=) n.1132C>T c.904C>T (p.Leu302=) c.1153C>T (p.Leu385=) c.967C>T (p.Leu323=) c.805C>T (p.Leu269=) c.1114C>T (p.Leu372=) c.949C>T (p.Leu317=) c.1198C>T (p.Leu400=) c.1012C>T (p.Leu338=) n.1129C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118719T>A | CA388786365 | F7 | c.1046T>A (p.Leu349Gln) c.1112T>A (p.Leu371Gln) c.860T>A (p.Leu287Gln) n.1133T>A c.905T>A (p.Leu302Gln) c.1154T>A (p.Leu385Gln) c.968T>A (p.Leu323Gln) c.806T>A (p.Leu269Gln) c.1115T>A (p.Leu372Gln) c.950T>A (p.Leu317Gln) c.1199T>A (p.Leu400Gln) c.1013T>A (p.Leu338Gln) n.1130T>A | |
13 | g.113118719T>C | CA388786366 | F7 | c.1046T>C (p.Leu349Pro) c.1112T>C (p.Leu371Pro) c.860T>C (p.Leu287Pro) n.1133T>C c.905T>C (p.Leu302Pro) c.1154T>C (p.Leu385Pro) c.968T>C (p.Leu323Pro) c.806T>C (p.Leu269Pro) c.1115T>C (p.Leu372Pro) c.950T>C (p.Leu317Pro) c.1199T>C (p.Leu400Pro) c.1013T>C (p.Leu338Pro) n.1130T>C | |
13 | g.113118719T>G | CA388786367 | F7 | c.1046T>G (p.Leu349Arg) c.1112T>G (p.Leu371Arg) c.860T>G (p.Leu287Arg) n.1133T>G c.905T>G (p.Leu302Arg) c.1154T>G (p.Leu385Arg) c.968T>G (p.Leu323Arg) c.806T>G (p.Leu269Arg) c.1115T>G (p.Leu372Arg) c.950T>G (p.Leu317Arg) c.1199T>G (p.Leu400Arg) c.1013T>G (p.Leu338Arg) n.1130T>G | |
13 | g.113118720G>A | CA485424011 | F7 | c.1047G>A (p.Leu349=) c.1113G>A (p.Leu371=) c.861G>A (p.Leu287=) n.1134G>A c.906G>A (p.Leu302=) c.1155G>A (p.Leu385=) c.969G>A (p.Leu323=) c.807G>A (p.Leu269=) c.1116G>A (p.Leu372=) c.951G>A (p.Leu317=) c.1200G>A (p.Leu400=) c.1014G>A (p.Leu338=) n.1131G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118720G>C | CA485424012 | F7 | c.1047G>C (p.Leu349=) c.1113G>C (p.Leu371=) c.861G>C (p.Leu287=) n.1134G>C c.906G>C (p.Leu302=) c.1155G>C (p.Leu385=) c.969G>C (p.Leu323=) c.807G>C (p.Leu269=) c.1116G>C (p.Leu372=) c.951G>C (p.Leu317=) c.1200G>C (p.Leu400=) c.1014G>C (p.Leu338=) n.1131G>C | |
13 | g.113118720G= | CA2120142512 | F7 | c.1047G= (p.Leu349=) c.1113G= (p.Leu371=) c.861G= (p.Leu287=) n.1134G= c.906G= (p.Leu302=) c.1155G= (p.Leu385=) c.969G= (p.Leu323=) c.807G= (p.Leu269=) c.1116G= (p.Leu372=) c.951G= (p.Leu317=) c.1200G= (p.Leu400=) c.1014G= (p.Leu338=) n.1131G= | |
13 | g.113118720G>T | CA485424013 | F7 | c.1047G>T (p.Leu349=) c.1113G>T (p.Leu371=) c.861G>T (p.Leu287=) n.1134G>T c.906G>T (p.Leu302=) c.1155G>T (p.Leu385=) c.969G>T (p.Leu323=) c.807G>T (p.Leu269=) c.1116G>T (p.Leu372=) c.951G>T (p.Leu317=) c.1200G>T (p.Leu400=) c.1014G>T (p.Leu338=) n.1131G>T | gnomAD v4 |
13 | g.113118721C>A | CA388786369 | F7 | c.1048C>A (p.Gln350Lys) c.1114C>A (p.Gln372Lys) c.862C>A (p.Gln288Lys) n.1135C>A c.907C>A (p.Gln303Lys) c.1156C>A (p.Gln386Lys) c.970C>A (p.Gln324Lys) c.808C>A (p.Gln270Lys) c.1117C>A (p.Gln373Lys) c.952C>A (p.Gln318Lys) c.1201C>A (p.Gln401Lys) c.1015C>A (p.Gln339Lys) n.1132C>A | |
13 | g.113118721C= | CA2120142521 | F7 | c.1048C= (p.Gln350=) c.1114C= (p.Gln372=) c.862C= (p.Gln288=) n.1135C= c.907C= (p.Gln303=) c.1156C= (p.Gln386=) c.970C= (p.Gln324=) c.808C= (p.Gln270=) c.1117C= (p.Gln373=) c.952C= (p.Gln318=) c.1201C= (p.Gln401=) c.1015C= (p.Gln339=) n.1132C= | |
13 | g.113118721C>G | CA388786370 | F7 | c.1048C>G (p.Gln350Glu) c.1114C>G (p.Gln372Glu) c.862C>G (p.Gln288Glu) n.1135C>G c.907C>G (p.Gln303Glu) c.1156C>G (p.Gln386Glu) c.970C>G (p.Gln324Glu) c.808C>G (p.Gln270Glu) c.1117C>G (p.Gln373Glu) c.952C>G (p.Gln318Glu) c.1201C>G (p.Gln401Glu) c.1015C>G (p.Gln339Glu) n.1132C>G | |
13 | g.113118721C>T | CA388786368 | F7 | c.1048C>T (p.Gln350Ter) c.1114C>T (p.Gln372Ter) c.862C>T (p.Gln288Ter) n.1135C>T c.907C>T (p.Gln303Ter) c.1156C>T (p.Gln386Ter) c.970C>T (p.Gln324Ter) c.808C>T (p.Gln270Ter) c.1117C>T (p.Gln373Ter) c.952C>T (p.Gln318Ter) c.1201C>T (p.Gln401Ter) c.1015C>T (p.Gln339Ter) n.1132C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118722A= | CA2120142527 | F7 | c.1049A= (p.Gln350=) c.1115A= (p.Gln372=) c.863A= (p.Gln288=) n.1136A= c.908A= (p.Gln303=) c.1157A= (p.Gln386=) c.971A= (p.Gln324=) c.809A= (p.Gln270=) c.1118A= (p.Gln373=) c.953A= (p.Gln318=) c.1202A= (p.Gln401=) c.1016A= (p.Gln339=) n.1133A= | |
13 | g.113118722A>C | CA388786372 | F7 | c.1049A>C (p.Gln350Pro) c.1115A>C (p.Gln372Pro) c.863A>C (p.Gln288Pro) n.1136A>C c.908A>C (p.Gln303Pro) c.1157A>C (p.Gln386Pro) c.971A>C (p.Gln324Pro) c.809A>C (p.Gln270Pro) c.1118A>C (p.Gln373Pro) c.953A>C (p.Gln318Pro) c.1202A>C (p.Gln401Pro) c.1016A>C (p.Gln339Pro) n.1133A>C | |
13 | g.113118722A>G | CA388786371 | F7 | c.1049A>G (p.Gln350Arg) c.1115A>G (p.Gln372Arg) c.863A>G (p.Gln288Arg) n.1136A>G c.908A>G (p.Gln303Arg) c.1157A>G (p.Gln386Arg) c.971A>G (p.Gln324Arg) c.809A>G (p.Gln270Arg) c.1118A>G (p.Gln373Arg) c.953A>G (p.Gln318Arg) c.1202A>G (p.Gln401Arg) c.1016A>G (p.Gln339Arg) n.1133A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118722A>T | CA388786373 | F7 | c.1049A>T (p.Gln350Leu) c.1115A>T (p.Gln372Leu) c.863A>T (p.Gln288Leu) n.1136A>T c.908A>T (p.Gln303Leu) c.1157A>T (p.Gln386Leu) c.971A>T (p.Gln324Leu) c.809A>T (p.Gln270Leu) c.1118A>T (p.Gln373Leu) c.953A>T (p.Gln318Leu) c.1202A>T (p.Gln401Leu) c.1016A>T (p.Gln339Leu) n.1133A>T | |
13 | g.113118723G>A | CA485424014 | F7 | c.1050G>A (p.Gln350=) c.1116G>A (p.Gln372=) c.864G>A (p.Gln288=) n.1137G>A c.909G>A (p.Gln303=) c.1158G>A (p.Gln386=) c.972G>A (p.Gln324=) c.810G>A (p.Gln270=) c.1119G>A (p.Gln373=) c.954G>A (p.Gln318=) c.1203G>A (p.Gln401=) c.1017G>A (p.Gln339=) n.1134G>A | gnomAD v4 |
13 | g.113118723G>C | CA388786374 | F7 | c.1050G>C (p.Gln350His) c.1116G>C (p.Gln372His) c.864G>C (p.Gln288His) n.1137G>C c.909G>C (p.Gln303His) c.1158G>C (p.Gln386His) c.972G>C (p.Gln324His) c.810G>C (p.Gln270His) c.1119G>C (p.Gln373His) c.954G>C (p.Gln318His) c.1203G>C (p.Gln401His) c.1017G>C (p.Gln339His) n.1134G>C | |
13 | g.113118723G>T | CA388786375 | F7 | c.1050G>T (p.Gln350His) c.1116G>T (p.Gln372His) c.864G>T (p.Gln288His) n.1137G>T c.909G>T (p.Gln303His) c.1158G>T (p.Gln386His) c.972G>T (p.Gln324His) c.810G>T (p.Gln270His) c.1119G>T (p.Gln373His) c.954G>T (p.Gln318His) c.1203G>T (p.Gln401His) c.1017G>T (p.Gln339His) n.1134G>T | |
13 | g.113118724C>A | CA388786376 | F7 | c.1051C>A (p.Gln351Lys) c.1117C>A (p.Gln373Lys) c.865C>A (p.Gln289Lys) n.1138C>A c.910C>A (p.Gln304Lys) c.1159C>A (p.Gln387Lys) c.973C>A (p.Gln325Lys) c.811C>A (p.Gln271Lys) c.1120C>A (p.Gln374Lys) c.955C>A (p.Gln319Lys) c.1204C>A (p.Gln402Lys) c.1018C>A (p.Gln340Lys) n.1135C>A | |
13 | g.113118724C= | CA2120142531 | F7 | c.1051C= (p.Gln351=) c.1117C= (p.Gln373=) c.865C= (p.Gln289=) n.1138C= c.910C= (p.Gln304=) c.1159C= (p.Gln387=) c.973C= (p.Gln325=) c.811C= (p.Gln271=) c.1120C= (p.Gln374=) c.955C= (p.Gln319=) c.1204C= (p.Gln402=) c.1018C= (p.Gln340=) n.1135C= | |
13 | g.113118724C>G | CA388786377 | F7 | c.1051C>G (p.Gln351Glu) c.1117C>G (p.Gln373Glu) c.865C>G (p.Gln289Glu) n.1138C>G c.910C>G (p.Gln304Glu) c.1159C>G (p.Gln387Glu) c.973C>G (p.Gln325Glu) c.811C>G (p.Gln271Glu) c.1120C>G (p.Gln374Glu) c.955C>G (p.Gln319Glu) c.1204C>G (p.Gln402Glu) c.1018C>G (p.Gln340Glu) n.1135C>G | dbSNP gnomAD v4 |
13 | g.113118724C>T | CA388786378 | F7 | c.1051C>T (p.Gln351Ter) c.1117C>T (p.Gln373Ter) c.865C>T (p.Gln289Ter) n.1138C>T c.910C>T (p.Gln304Ter) c.1159C>T (p.Gln387Ter) c.973C>T (p.Gln325Ter) c.811C>T (p.Gln271Ter) c.1120C>T (p.Gln374Ter) c.955C>T (p.Gln319Ter) c.1204C>T (p.Gln402Ter) c.1018C>T (p.Gln340Ter) n.1135C>T | gnomAD v4 |
13 | g.113118725A>C | CA388786379 | F7 | c.1052A>C (p.Gln351Pro) c.1118A>C (p.Gln373Pro) c.866A>C (p.Gln289Pro) n.1139A>C c.911A>C (p.Gln304Pro) c.1160A>C (p.Gln387Pro) c.974A>C (p.Gln325Pro) c.812A>C (p.Gln271Pro) c.1121A>C (p.Gln374Pro) c.956A>C (p.Gln319Pro) c.1205A>C (p.Gln402Pro) c.1019A>C (p.Gln340Pro) n.1136A>C | |
13 | g.113118725A>G | CA388786380 | F7 | c.1052A>G (p.Gln351Arg) c.1118A>G (p.Gln373Arg) c.866A>G (p.Gln289Arg) n.1139A>G c.911A>G (p.Gln304Arg) c.1160A>G (p.Gln387Arg) c.974A>G (p.Gln325Arg) c.812A>G (p.Gln271Arg) c.1121A>G (p.Gln374Arg) c.956A>G (p.Gln319Arg) c.1205A>G (p.Gln402Arg) c.1019A>G (p.Gln340Arg) n.1136A>G | |
13 | g.113118725A>T | CA388786381 | F7 | c.1052A>T (p.Gln351Leu) c.1118A>T (p.Gln373Leu) c.866A>T (p.Gln289Leu) n.1139A>T c.911A>T (p.Gln304Leu) c.1160A>T (p.Gln387Leu) c.974A>T (p.Gln325Leu) c.812A>T (p.Gln271Leu) c.1121A>T (p.Gln374Leu) c.956A>T (p.Gln319Leu) c.1205A>T (p.Gln402Leu) c.1019A>T (p.Gln340Leu) n.1136A>T | |
13 | g.113118726G>A | CA485424015 | F7 | c.1053G>A (p.Gln351=) c.1119G>A (p.Gln373=) c.867G>A (p.Gln289=) n.1140G>A c.912G>A (p.Gln304=) c.1161G>A (p.Gln387=) c.975G>A (p.Gln325=) c.813G>A (p.Gln271=) c.1122G>A (p.Gln374=) c.957G>A (p.Gln319=) c.1206G>A (p.Gln402=) c.1020G>A (p.Gln340=) n.1137G>A | |
13 | g.113118726G>C | CA388786382 | F7 | c.1053G>C (p.Gln351His) c.1119G>C (p.Gln373His) c.867G>C (p.Gln289His) n.1140G>C c.912G>C (p.Gln304His) c.1161G>C (p.Gln387His) c.975G>C (p.Gln325His) c.813G>C (p.Gln271His) c.1122G>C (p.Gln374His) c.957G>C (p.Gln319His) c.1206G>C (p.Gln402His) c.1020G>C (p.Gln340His) n.1137G>C | |
13 | g.113118726G>T | CA388786383 | F7 | c.1053G>T (p.Gln351His) c.1119G>T (p.Gln373His) c.867G>T (p.Gln289His) n.1140G>T c.912G>T (p.Gln304His) c.1161G>T (p.Gln387His) c.975G>T (p.Gln325His) c.813G>T (p.Gln271His) c.1122G>T (p.Gln374His) c.957G>T (p.Gln319His) c.1206G>T (p.Gln402His) c.1020G>T (p.Gln340His) n.1137G>T | |
13 | g.113118727T>A | CA388786384 | F7 | c.1054T>A (p.Ser352Thr) c.1120T>A (p.Ser374Thr) c.868T>A (p.Ser290Thr) n.1141T>A c.913T>A (p.Ser305Thr) c.1162T>A (p.Ser388Thr) c.976T>A (p.Ser326Thr) c.814T>A (p.Ser272Thr) c.1123T>A (p.Ser375Thr) c.958T>A (p.Ser320Thr) c.1207T>A (p.Ser403Thr) c.1021T>A (p.Ser341Thr) n.1138T>A | |
13 | g.113118727T>C | CA7060223 | F7 | c.1054T>C (p.Ser352Pro) c.1120T>C (p.Ser374Pro) c.868T>C (p.Ser290Pro) n.1141T>C c.913T>C (p.Ser305Pro) c.1162T>C (p.Ser388Pro) c.976T>C (p.Ser326Pro) c.814T>C (p.Ser272Pro) c.1123T>C (p.Ser375Pro) c.958T>C (p.Ser320Pro) c.1207T>C (p.Ser403Pro) c.1021T>C (p.Ser341Pro) n.1138T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118727T>G | CA388786385 | F7 | c.1054T>G (p.Ser352Ala) c.1120T>G (p.Ser374Ala) c.868T>G (p.Ser290Ala) n.1141T>G c.913T>G (p.Ser305Ala) c.1162T>G (p.Ser388Ala) c.976T>G (p.Ser326Ala) c.814T>G (p.Ser272Ala) c.1123T>G (p.Ser375Ala) c.958T>G (p.Ser320Ala) c.1207T>G (p.Ser403Ala) c.1021T>G (p.Ser341Ala) n.1138T>G | |
13 | g.113118727T= | CA2120142536 | F7 | c.1054T= (p.Ser352=) c.1120T= (p.Ser374=) c.868T= (p.Ser290=) n.1141T= c.913T= (p.Ser305=) c.1162T= (p.Ser388=) c.976T= (p.Ser326=) c.814T= (p.Ser272=) c.1123T= (p.Ser375=) c.958T= (p.Ser320=) c.1207T= (p.Ser403=) c.1021T= (p.Ser341=) n.1138T= | |
13 | g.113118728del | CA2623809162 | F7 | c.1055del (p.Ser352TyrfsTer?) c.1121del (p.Ser374TyrfsTer?) c.869del (p.Ser290TyrfsTer?) n.1142del c.914del (p.Ser305TyrfsTer?) c.1163del (p.Ser388TyrfsTer?) c.977del (p.Ser326TyrfsTer?) c.815del (p.Ser272TyrfsTer?) c.1124del (p.Ser375TyrfsTer?) c.959del (p.Ser320TyrfsTer?) c.1208del (p.Ser403TyrfsTer?) c.1022del (p.Ser341TyrfsTer?) n.1139del | gnomAD v4 |
13 | g.113118728C>A | CA388786388 | F7 | c.1055C>A (p.Ser352Ter) c.1121C>A (p.Ser374Ter) c.869C>A (p.Ser290Ter) n.1142C>A c.914C>A (p.Ser305Ter) c.1163C>A (p.Ser388Ter) c.977C>A (p.Ser326Ter) c.815C>A (p.Ser272Ter) c.1124C>A (p.Ser375Ter) c.959C>A (p.Ser320Ter) c.1208C>A (p.Ser403Ter) c.1022C>A (p.Ser341Ter) n.1139C>A | |
13 | g.113118728C>G | CA388786386 | F7 | c.1055C>G (p.Ser352Ter) c.1121C>G (p.Ser374Ter) c.869C>G (p.Ser290Ter) n.1142C>G c.914C>G (p.Ser305Ter) c.1163C>G (p.Ser388Ter) c.977C>G (p.Ser326Ter) c.815C>G (p.Ser272Ter) c.1124C>G (p.Ser375Ter) c.959C>G (p.Ser320Ter) c.1208C>G (p.Ser403Ter) c.1022C>G (p.Ser341Ter) n.1139C>G | |
13 | g.113118728C>T | CA388786387 | F7 | c.1055C>T (p.Ser352Leu) c.1121C>T (p.Ser374Leu) c.869C>T (p.Ser290Leu) n.1142C>T c.914C>T (p.Ser305Leu) c.1163C>T (p.Ser388Leu) c.977C>T (p.Ser326Leu) c.815C>T (p.Ser272Leu) c.1124C>T (p.Ser375Leu) c.959C>T (p.Ser320Leu) c.1208C>T (p.Ser403Leu) c.1022C>T (p.Ser341Leu) n.1139C>T | |
13 | g.113118729A= | CA2120142540 | F7 | c.1056A= (p.Ser352=) c.1122A= (p.Ser374=) c.870A= (p.Ser290=) n.1143A= c.915A= (p.Ser305=) c.1164A= (p.Ser388=) c.978A= (p.Ser326=) c.816A= (p.Ser272=) c.1125A= (p.Ser375=) c.960A= (p.Ser320=) c.1209A= (p.Ser403=) c.1023A= (p.Ser341=) n.1140A= | |
13 | g.113118729A>C | CA485424016 | F7 | c.1056A>C (p.Ser352=) c.1122A>C (p.Ser374=) c.870A>C (p.Ser290=) n.1143A>C c.915A>C (p.Ser305=) c.1164A>C (p.Ser388=) c.978A>C (p.Ser326=) c.816A>C (p.Ser272=) c.1125A>C (p.Ser375=) c.960A>C (p.Ser320=) c.1209A>C (p.Ser403=) c.1023A>C (p.Ser341=) n.1140A>C | |
13 | g.113118729A>G | CA485424017 | F7 | c.1056A>G (p.Ser352=) c.1122A>G (p.Ser374=) c.870A>G (p.Ser290=) n.1143A>G c.915A>G (p.Ser305=) c.1164A>G (p.Ser388=) c.978A>G (p.Ser326=) c.816A>G (p.Ser272=) c.1125A>G (p.Ser375=) c.960A>G (p.Ser320=) c.1209A>G (p.Ser403=) c.1023A>G (p.Ser341=) n.1140A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118729A>T | CA485424018 | F7 | c.1056A>T (p.Ser352=) c.1122A>T (p.Ser374=) c.870A>T (p.Ser290=) n.1143A>T c.915A>T (p.Ser305=) c.1164A>T (p.Ser388=) c.978A>T (p.Ser326=) c.816A>T (p.Ser272=) c.1125A>T (p.Ser375=) c.960A>T (p.Ser320=) c.1209A>T (p.Ser403=) c.1023A>T (p.Ser341=) n.1140A>T | |
13 | g.113118730C>A | CA485424019 | F7 | c.1057C>A (p.Arg353=) c.1123C>A (p.Arg375=) c.871C>A (p.Arg291=) n.1144C>A c.916C>A (p.Arg306=) c.1165C>A (p.Arg389=) c.979C>A (p.Arg327=) c.817C>A (p.Arg273=) c.1126C>A (p.Arg376=) c.961C>A (p.Arg321=) c.1210C>A (p.Arg404=) c.1024C>A (p.Arg342=) n.1141C>A | |
13 | g.113118730C= | CA2120142544 | F7 | c.1057C= (p.Arg353=) c.1123C= (p.Arg375=) c.871C= (p.Arg291=) n.1144C= c.916C= (p.Arg306=) c.1165C= (p.Arg389=) c.979C= (p.Arg327=) c.817C= (p.Arg273=) c.1126C= (p.Arg376=) c.961C= (p.Arg321=) c.1210C= (p.Arg404=) c.1024C= (p.Arg342=) n.1141C= | |
13 | g.113118730C>G | CA388786389 | F7 | c.1057C>G (p.Arg353Gly) c.1123C>G (p.Arg375Gly) c.871C>G (p.Arg291Gly) n.1144C>G c.916C>G (p.Arg306Gly) c.1165C>G (p.Arg389Gly) c.979C>G (p.Arg327Gly) c.817C>G (p.Arg273Gly) c.1126C>G (p.Arg376Gly) c.961C>G (p.Arg321Gly) c.1210C>G (p.Arg404Gly) c.1024C>G (p.Arg342Gly) n.1141C>G | |
13 | g.113118730C>T | CA7060224 | F7 | c.1057C>T (p.Arg353Trp) c.1123C>T (p.Arg375Trp) c.871C>T (p.Arg291Trp) n.1144C>T c.916C>T (p.Arg306Trp) c.1165C>T (p.Arg389Trp) c.979C>T (p.Arg327Trp) c.817C>T (p.Arg273Trp) c.1126C>T (p.Arg376Trp) c.961C>T (p.Arg321Trp) c.1210C>T (p.Arg404Trp) c.1024C>T (p.Arg342Trp) n.1141C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118731G>A | CA7060225 | F7 | c.1058G>A (p.Arg353Gln) c.1124G>A (p.Arg375Gln) c.872G>A (p.Arg291Gln) n.1145G>A c.917G>A (p.Arg306Gln) c.1166G>A (p.Arg389Gln) c.980G>A (p.Arg327Gln) c.818G>A (p.Arg273Gln) c.1127G>A (p.Arg376Gln) c.962G>A (p.Arg321Gln) c.1211G>A (p.Arg404Gln) c.1025G>A (p.Arg342Gln) n.1142G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118731G>C | CA388786390 | F7 | c.1058G>C (p.Arg353Pro) c.1124G>C (p.Arg375Pro) c.872G>C (p.Arg291Pro) n.1145G>C c.917G>C (p.Arg306Pro) c.1166G>C (p.Arg389Pro) c.980G>C (p.Arg327Pro) c.818G>C (p.Arg273Pro) c.1127G>C (p.Arg376Pro) c.962G>C (p.Arg321Pro) c.1211G>C (p.Arg404Pro) c.1025G>C (p.Arg342Pro) n.1142G>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118731G= | CA2120142548 | F7 | c.1058G= (p.Arg353=) c.1124G= (p.Arg375=) c.872G= (p.Arg291=) n.1145G= c.917G= (p.Arg306=) c.1166G= (p.Arg389=) c.980G= (p.Arg327=) c.818G= (p.Arg273=) c.1127G= (p.Arg376=) c.962G= (p.Arg321=) c.1211G= (p.Arg404=) c.1025G= (p.Arg342=) n.1142G= | |
13 | g.113118731G>T | CA388786391 | F7 | c.1058G>T (p.Arg353Leu) c.1124G>T (p.Arg375Leu) c.872G>T (p.Arg291Leu) n.1145G>T c.917G>T (p.Arg306Leu) c.1166G>T (p.Arg389Leu) c.980G>T (p.Arg327Leu) c.818G>T (p.Arg273Leu) c.1127G>T (p.Arg376Leu) c.962G>T (p.Arg321Leu) c.1211G>T (p.Arg404Leu) c.1025G>T (p.Arg342Leu) n.1142G>T | gnomAD v4 |
13 | g.113118732G>A | CA256461763 | F7 | c.1059G>A (p.Arg353=) c.1125G>A (p.Arg375=) c.873G>A (p.Arg291=) n.1146G>A c.918G>A (p.Arg306=) c.1167G>A (p.Arg389=) c.981G>A (p.Arg327=) c.819G>A (p.Arg273=) c.1128G>A (p.Arg376=) c.963G>A (p.Arg321=) c.1212G>A (p.Arg404=) c.1026G>A (p.Arg342=) n.1143G>A | dbSNP |
13 | g.113118732G>C | CA485424020 | F7 | c.1059G>C (p.Arg353=) c.1125G>C (p.Arg375=) c.873G>C (p.Arg291=) n.1146G>C c.918G>C (p.Arg306=) c.1167G>C (p.Arg389=) c.981G>C (p.Arg327=) c.819G>C (p.Arg273=) c.1128G>C (p.Arg376=) c.963G>C (p.Arg321=) c.1212G>C (p.Arg404=) c.1026G>C (p.Arg342=) n.1143G>C | |
13 | g.113118732G= | CA2120142553 | F7 | c.1059G= (p.Arg353=) c.1125G= (p.Arg375=) c.873G= (p.Arg291=) n.1146G= c.918G= (p.Arg306=) c.1167G= (p.Arg389=) c.981G= (p.Arg327=) c.819G= (p.Arg273=) c.1128G= (p.Arg376=) c.963G= (p.Arg321=) c.1212G= (p.Arg404=) c.1026G= (p.Arg342=) n.1143G= | |
13 | g.113118732G>T | CA485424021 | F7 | c.1059G>T (p.Arg353=) c.1125G>T (p.Arg375=) c.873G>T (p.Arg291=) n.1146G>T c.918G>T (p.Arg306=) c.1167G>T (p.Arg389=) c.981G>T (p.Arg327=) c.819G>T (p.Arg273=) c.1128G>T (p.Arg376=) c.963G>T (p.Arg321=) c.1212G>T (p.Arg404=) c.1026G>T (p.Arg342=) n.1143G>T | |
13 | g.113118733A= | CA2120142565 | F7 | c.1060A= (p.Lys354=) c.1126A= (p.Lys376=) c.874A= (p.Lys292=) n.1147A= c.919A= (p.Lys307=) c.1168A= (p.Lys390=) c.982A= (p.Lys328=) c.820A= (p.Lys274=) c.1129A= (p.Lys377=) c.964A= (p.Lys322=) c.1213A= (p.Lys405=) c.1027A= (p.Lys343=) n.1144A= | |
13 | g.113118733A>C | CA388786392 | F7 | c.1060A>C (p.Lys354Gln) c.1126A>C (p.Lys376Gln) c.874A>C (p.Lys292Gln) n.1147A>C c.919A>C (p.Lys307Gln) c.1168A>C (p.Lys390Gln) c.982A>C (p.Lys328Gln) c.820A>C (p.Lys274Gln) c.1129A>C (p.Lys377Gln) c.964A>C (p.Lys322Gln) c.1213A>C (p.Lys405Gln) c.1027A>C (p.Lys343Gln) n.1144A>C | |
13 | g.113118733A>G | CA388786393 | F7 | c.1060A>G (p.Lys354Glu) c.1126A>G (p.Lys376Glu) c.874A>G (p.Lys292Glu) n.1147A>G c.919A>G (p.Lys307Glu) c.1168A>G (p.Lys390Glu) c.982A>G (p.Lys328Glu) c.820A>G (p.Lys274Glu) c.1129A>G (p.Lys377Glu) c.964A>G (p.Lys322Glu) c.1213A>G (p.Lys405Glu) c.1027A>G (p.Lys343Glu) n.1144A>G | dbSNP gnomAD v4 |
13 | g.113118733A>T | CA388786394 | F7 | c.1060A>T (p.Lys354Ter) c.1126A>T (p.Lys376Ter) c.874A>T (p.Lys292Ter) n.1147A>T c.919A>T (p.Lys307Ter) c.1168A>T (p.Lys390Ter) c.982A>T (p.Lys328Ter) c.820A>T (p.Lys274Ter) c.1129A>T (p.Lys377Ter) c.964A>T (p.Lys322Ter) c.1213A>T (p.Lys405Ter) c.1027A>T (p.Lys343Ter) n.1144A>T | |
13 | g.113118734A>C | CA388786395 | F7 | c.1061A>C (p.Lys354Thr) c.1127A>C (p.Lys376Thr) c.875A>C (p.Lys292Thr) n.1148A>C c.920A>C (p.Lys307Thr) c.1169A>C (p.Lys390Thr) c.983A>C (p.Lys328Thr) c.821A>C (p.Lys274Thr) c.1130A>C (p.Lys377Thr) c.965A>C (p.Lys322Thr) c.1214A>C (p.Lys405Thr) c.1028A>C (p.Lys343Thr) n.1145A>C | |
13 | g.113118734A>G | CA388786396 | F7 | c.1061A>G (p.Lys354Arg) c.1127A>G (p.Lys376Arg) c.875A>G (p.Lys292Arg) n.1148A>G c.920A>G (p.Lys307Arg) c.1169A>G (p.Lys390Arg) c.983A>G (p.Lys328Arg) c.821A>G (p.Lys274Arg) c.1130A>G (p.Lys377Arg) c.965A>G (p.Lys322Arg) c.1214A>G (p.Lys405Arg) c.1028A>G (p.Lys343Arg) n.1145A>G | |
13 | g.113118734A>T | CA388786397 | F7 | c.1061A>T (p.Lys354Met) c.1127A>T (p.Lys376Met) c.875A>T (p.Lys292Met) n.1148A>T c.920A>T (p.Lys307Met) c.1169A>T (p.Lys390Met) c.983A>T (p.Lys328Met) c.821A>T (p.Lys274Met) c.1130A>T (p.Lys377Met) c.965A>T (p.Lys322Met) c.1214A>T (p.Lys405Met) c.1028A>T (p.Lys343Met) n.1145A>T | |
13 | g.113118735G>A | CA485424022 | F7 | c.1062G>A (p.Lys354=) c.1128G>A (p.Lys376=) c.876G>A (p.Lys292=) n.1149G>A c.921G>A (p.Lys307=) c.1170G>A (p.Lys390=) c.984G>A (p.Lys328=) c.822G>A (p.Lys274=) c.1131G>A (p.Lys377=) c.966G>A (p.Lys322=) c.1215G>A (p.Lys405=) c.1029G>A (p.Lys343=) n.1146G>A | |
13 | g.113118735G>C | CA388786398 | F7 | c.1062G>C (p.Lys354Asn) c.1128G>C (p.Lys376Asn) c.876G>C (p.Lys292Asn) n.1149G>C c.921G>C (p.Lys307Asn) c.1170G>C (p.Lys390Asn) c.984G>C (p.Lys328Asn) c.822G>C (p.Lys274Asn) c.1131G>C (p.Lys377Asn) c.966G>C (p.Lys322Asn) c.1215G>C (p.Lys405Asn) c.1029G>C (p.Lys343Asn) n.1146G>C | |
13 | g.113118735G>T | CA388786399 | F7 | c.1062G>T (p.Lys354Asn) c.1128G>T (p.Lys376Asn) c.876G>T (p.Lys292Asn) n.1149G>T c.921G>T (p.Lys307Asn) c.1170G>T (p.Lys390Asn) c.984G>T (p.Lys328Asn) c.822G>T (p.Lys274Asn) c.1131G>T (p.Lys377Asn) c.966G>T (p.Lys322Asn) c.1215G>T (p.Lys405Asn) c.1029G>T (p.Lys343Asn) n.1146G>T | |
13 | g.113118736G>A | CA388786400 | F7 | c.1063G>A (p.Val355Met) c.1129G>A (p.Val377Met) c.877G>A (p.Val293Met) n.1150G>A c.922G>A (p.Val308Met) c.1171G>A (p.Val391Met) c.985G>A (p.Val329Met) c.823G>A (p.Val275Met) c.1132G>A (p.Val378Met) c.967G>A (p.Val323Met) c.1216G>A (p.Val406Met) c.1030G>A (p.Val344Met) n.1147G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.113118736G>C | CA388786401 | F7 | c.1063G>C (p.Val355Leu) c.1129G>C (p.Val377Leu) c.877G>C (p.Val293Leu) n.1150G>C c.922G>C (p.Val308Leu) c.1171G>C (p.Val391Leu) c.985G>C (p.Val329Leu) c.823G>C (p.Val275Leu) c.1132G>C (p.Val378Leu) c.967G>C (p.Val323Leu) c.1216G>C (p.Val406Leu) c.1030G>C (p.Val344Leu) n.1147G>C | |
13 | g.113118736G= | CA2120142569 | F7 | c.1063G= (p.Val355=) c.1129G= (p.Val377=) c.877G= (p.Val293=) n.1150G= c.922G= (p.Val308=) c.1171G= (p.Val391=) c.985G= (p.Val329=) c.823G= (p.Val275=) c.1132G= (p.Val378=) c.967G= (p.Val323=) c.1216G= (p.Val406=) c.1030G= (p.Val344=) n.1147G= | |
13 | g.113118736G>T | CA388786402 | F7 | c.1063G>T (p.Val355Leu) c.1129G>T (p.Val377Leu) c.877G>T (p.Val293Leu) n.1150G>T c.922G>T (p.Val308Leu) c.1171G>T (p.Val391Leu) c.985G>T (p.Val329Leu) c.823G>T (p.Val275Leu) c.1132G>T (p.Val378Leu) c.967G>T (p.Val323Leu) c.1216G>T (p.Val406Leu) c.1030G>T (p.Val344Leu) n.1147G>T | |
13 | g.113118737T>A | CA388786403 | F7 | c.1064T>A (p.Val355Glu) c.1130T>A (p.Val377Glu) c.878T>A (p.Val293Glu) n.1151T>A c.923T>A (p.Val308Glu) c.1172T>A (p.Val391Glu) c.986T>A (p.Val329Glu) c.824T>A (p.Val275Glu) c.1133T>A (p.Val378Glu) c.968T>A (p.Val323Glu) c.1217T>A (p.Val406Glu) c.1031T>A (p.Val344Glu) n.1148T>A | |
13 | g.113118737T>C | CA388786404 | F7 | c.1064T>C (p.Val355Ala) c.1130T>C (p.Val377Ala) c.878T>C (p.Val293Ala) n.1151T>C c.923T>C (p.Val308Ala) c.1172T>C (p.Val391Ala) c.986T>C (p.Val329Ala) c.824T>C (p.Val275Ala) c.1133T>C (p.Val378Ala) c.968T>C (p.Val323Ala) c.1217T>C (p.Val406Ala) c.1031T>C (p.Val344Ala) n.1148T>C | |
13 | g.113118737T>G | CA388786405 | F7 | c.1064T>G (p.Val355Gly) c.1130T>G (p.Val377Gly) c.878T>G (p.Val293Gly) n.1151T>G c.923T>G (p.Val308Gly) c.1172T>G (p.Val391Gly) c.986T>G (p.Val329Gly) c.824T>G (p.Val275Gly) c.1133T>G (p.Val378Gly) c.968T>G (p.Val323Gly) c.1217T>G (p.Val406Gly) c.1031T>G (p.Val344Gly) n.1148T>G | dbSNP |
13 | g.113118737T= | CA2120142574 | F7 | c.1064T= (p.Val355=) c.1130T= (p.Val377=) c.878T= (p.Val293=) n.1151T= c.923T= (p.Val308=) c.1172T= (p.Val391=) c.986T= (p.Val329=) c.824T= (p.Val275=) c.1133T= (p.Val378=) c.968T= (p.Val323=) c.1217T= (p.Val406=) c.1031T= (p.Val344=) n.1148T= | |
13 | g.113118738G>A | CA485424023 | F7 | c.1065G>A (p.Val355=) c.1131G>A (p.Val377=) c.879G>A (p.Val293=) n.1152G>A c.924G>A (p.Val308=) c.1173G>A (p.Val391=) c.987G>A (p.Val329=) c.825G>A (p.Val275=) c.1134G>A (p.Val378=) c.969G>A (p.Val323=) c.1218G>A (p.Val406=) c.1032G>A (p.Val344=) n.1149G>A | |
13 | g.113118738G>C | CA485424025 | F7 | c.1065G>C (p.Val355=) c.1131G>C (p.Val377=) c.879G>C (p.Val293=) n.1152G>C c.924G>C (p.Val308=) c.1173G>C (p.Val391=) c.987G>C (p.Val329=) c.825G>C (p.Val275=) c.1134G>C (p.Val378=) c.969G>C (p.Val323=) c.1218G>C (p.Val406=) c.1032G>C (p.Val344=) n.1149G>C | |
13 | g.113118738G>T | CA485424024 | F7 | c.1065G>T (p.Val355=) c.1131G>T (p.Val377=) c.879G>T (p.Val293=) n.1152G>T c.924G>T (p.Val308=) c.1173G>T (p.Val391=) c.987G>T (p.Val329=) c.825G>T (p.Val275=) c.1134G>T (p.Val378=) c.969G>T (p.Val323=) c.1218G>T (p.Val406=) c.1032G>T (p.Val344=) n.1149G>T | |
13 | g.113118739G>A | CA388786406 | F7 | c.1066G>A (p.Gly356Arg) c.1132G>A (p.Gly378Arg) c.880G>A (p.Gly294Arg) n.1153G>A c.925G>A (p.Gly309Arg) c.1174G>A (p.Gly392Arg) c.988G>A (p.Gly330Arg) c.826G>A (p.Gly276Arg) c.1135G>A (p.Gly379Arg) c.970G>A (p.Gly324Arg) c.1219G>A (p.Gly407Arg) c.1033G>A (p.Gly345Arg) n.1150G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118739G>C | CA388786407 | F7 | c.1066G>C (p.Gly356Arg) c.1132G>C (p.Gly378Arg) c.880G>C (p.Gly294Arg) n.1153G>C c.925G>C (p.Gly309Arg) c.1174G>C (p.Gly392Arg) c.988G>C (p.Gly330Arg) c.826G>C (p.Gly276Arg) c.1135G>C (p.Gly379Arg) c.970G>C (p.Gly324Arg) c.1219G>C (p.Gly407Arg) c.1033G>C (p.Gly345Arg) n.1150G>C | |
13 | g.113118739G= | CA2120142576 | F7 | c.1066G= (p.Gly356=) c.1132G= (p.Gly378=) c.880G= (p.Gly294=) n.1153G= c.925G= (p.Gly309=) c.1174G= (p.Gly392=) c.988G= (p.Gly330=) c.826G= (p.Gly276=) c.1135G= (p.Gly379=) c.970G= (p.Gly324=) c.1219G= (p.Gly407=) c.1033G= (p.Gly345=) n.1150G= | |
13 | g.113118739G>T | CA388786408 | F7 | c.1066G>T (p.Gly356Ter) c.1132G>T (p.Gly378Ter) c.880G>T (p.Gly294Ter) n.1153G>T c.925G>T (p.Gly309Ter) c.1174G>T (p.Gly392Ter) c.988G>T (p.Gly330Ter) c.826G>T (p.Gly276Ter) c.1135G>T (p.Gly379Ter) c.970G>T (p.Gly324Ter) c.1219G>T (p.Gly407Ter) c.1033G>T (p.Gly345Ter) n.1150G>T | |
13 | g.113118740G>A | CA388786409 | F7 | c.1067G>A (p.Gly356Glu) c.1133G>A (p.Gly378Glu) c.881G>A (p.Gly294Glu) n.1154G>A c.926G>A (p.Gly309Glu) c.1175G>A (p.Gly392Glu) c.989G>A (p.Gly330Glu) c.827G>A (p.Gly276Glu) c.1136G>A (p.Gly379Glu) c.971G>A (p.Gly324Glu) c.1220G>A (p.Gly407Glu) c.1034G>A (p.Gly345Glu) n.1151G>A | |
13 | g.113118740G>C | CA388786410 | F7 | c.1067G>C (p.Gly356Ala) c.1133G>C (p.Gly378Ala) c.881G>C (p.Gly294Ala) n.1154G>C c.926G>C (p.Gly309Ala) c.1175G>C (p.Gly392Ala) c.989G>C (p.Gly330Ala) c.827G>C (p.Gly276Ala) c.1136G>C (p.Gly379Ala) c.971G>C (p.Gly324Ala) c.1220G>C (p.Gly407Ala) c.1034G>C (p.Gly345Ala) n.1151G>C | |
13 | g.113118740G>T | CA388786411 | F7 | c.1067G>T (p.Gly356Val) c.1133G>T (p.Gly378Val) c.881G>T (p.Gly294Val) n.1154G>T c.926G>T (p.Gly309Val) c.1175G>T (p.Gly392Val) c.989G>T (p.Gly330Val) c.827G>T (p.Gly276Val) c.1136G>T (p.Gly379Val) c.971G>T (p.Gly324Val) c.1220G>T (p.Gly407Val) c.1034G>T (p.Gly345Val) n.1151G>T | |
13 | g.113118741A= | CA2120142581 | F7 | c.1068A= (p.Gly356=) c.1134A= (p.Gly378=) c.882A= (p.Gly294=) n.1155A= c.927A= (p.Gly309=) c.1176A= (p.Gly392=) c.990A= (p.Gly330=) c.828A= (p.Gly276=) c.1137A= (p.Gly379=) c.972A= (p.Gly324=) c.1221A= (p.Gly407=) c.1035A= (p.Gly345=) n.1152A= | |
13 | g.113118741A>C | CA485424026 | F7 | c.1068A>C (p.Gly356=) c.1134A>C (p.Gly378=) c.882A>C (p.Gly294=) n.1155A>C c.927A>C (p.Gly309=) c.1176A>C (p.Gly392=) c.990A>C (p.Gly330=) c.828A>C (p.Gly276=) c.1137A>C (p.Gly379=) c.972A>C (p.Gly324=) c.1221A>C (p.Gly407=) c.1035A>C (p.Gly345=) n.1152A>C | |
13 | g.113118741A>G | CA7060226 | F7 | c.1068A>G (p.Gly356=) c.1134A>G (p.Gly378=) c.882A>G (p.Gly294=) n.1155A>G c.927A>G (p.Gly309=) c.1176A>G (p.Gly392=) c.990A>G (p.Gly330=) c.828A>G (p.Gly276=) c.1137A>G (p.Gly379=) c.972A>G (p.Gly324=) c.1221A>G (p.Gly407=) c.1035A>G (p.Gly345=) n.1152A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118741A>T | CA485424027 | F7 | c.1068A>T (p.Gly356=) c.1134A>T (p.Gly378=) c.882A>T (p.Gly294=) n.1155A>T c.927A>T (p.Gly309=) c.1176A>T (p.Gly392=) c.990A>T (p.Gly330=) c.828A>T (p.Gly276=) c.1137A>T (p.Gly379=) c.972A>T (p.Gly324=) c.1221A>T (p.Gly407=) c.1035A>T (p.Gly345=) n.1152A>T | |
13 | g.113118742G>A | CA388786414 | F7 | c.1069G>A (p.Asp357Asn) c.1135G>A (p.Asp379Asn) c.883G>A (p.Asp295Asn) n.1156G>A c.928G>A (p.Asp310Asn) c.1177G>A (p.Asp393Asn) c.991G>A (p.Asp331Asn) c.829G>A (p.Asp277Asn) c.1138G>A (p.Asp380Asn) c.973G>A (p.Asp325Asn) c.1222G>A (p.Asp408Asn) c.1036G>A (p.Asp346Asn) n.1153G>A | |
13 | g.113118742G>C | CA388786412 | F7 | c.1069G>C (p.Asp357His) c.1135G>C (p.Asp379His) c.883G>C (p.Asp295His) n.1156G>C c.928G>C (p.Asp310His) c.1177G>C (p.Asp393His) c.991G>C (p.Asp331His) c.829G>C (p.Asp277His) c.1138G>C (p.Asp380His) c.973G>C (p.Asp325His) c.1222G>C (p.Asp408His) c.1036G>C (p.Asp346His) n.1153G>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118742G= | CA2120142586 | F7 | c.1069G= (p.Asp357=) c.1135G= (p.Asp379=) c.883G= (p.Asp295=) n.1156G= c.928G= (p.Asp310=) c.1177G= (p.Asp393=) c.991G= (p.Asp331=) c.829G= (p.Asp277=) c.1138G= (p.Asp380=) c.973G= (p.Asp325=) c.1222G= (p.Asp408=) c.1036G= (p.Asp346=) n.1153G= | |
13 | g.113118742G>T | CA388786413 | F7 | c.1069G>T (p.Asp357Tyr) c.1135G>T (p.Asp379Tyr) c.883G>T (p.Asp295Tyr) n.1156G>T c.928G>T (p.Asp310Tyr) c.1177G>T (p.Asp393Tyr) c.991G>T (p.Asp331Tyr) c.829G>T (p.Asp277Tyr) c.1138G>T (p.Asp380Tyr) c.973G>T (p.Asp325Tyr) c.1222G>T (p.Asp408Tyr) c.1036G>T (p.Asp346Tyr) n.1153G>T | |
13 | g.113118743A>C | CA388786415 | F7 | c.1070A>C (p.Asp357Ala) c.1136A>C (p.Asp379Ala) c.884A>C (p.Asp295Ala) n.1157A>C c.929A>C (p.Asp310Ala) c.1178A>C (p.Asp393Ala) c.992A>C (p.Asp331Ala) c.830A>C (p.Asp277Ala) c.1139A>C (p.Asp380Ala) c.974A>C (p.Asp325Ala) c.1223A>C (p.Asp408Ala) c.1037A>C (p.Asp346Ala) n.1154A>C | |
13 | g.113118743A>G | CA388786416 | F7 | c.1070A>G (p.Asp357Gly) c.1136A>G (p.Asp379Gly) c.884A>G (p.Asp295Gly) n.1157A>G c.929A>G (p.Asp310Gly) c.1178A>G (p.Asp393Gly) c.992A>G (p.Asp331Gly) c.830A>G (p.Asp277Gly) c.1139A>G (p.Asp380Gly) c.974A>G (p.Asp325Gly) c.1223A>G (p.Asp408Gly) c.1037A>G (p.Asp346Gly) n.1154A>G | gnomAD v4 |
13 | g.113118743A>T | CA388786417 | F7 | c.1070A>T (p.Asp357Val) c.1136A>T (p.Asp379Val) c.884A>T (p.Asp295Val) n.1157A>T c.929A>T (p.Asp310Val) c.1178A>T (p.Asp393Val) c.992A>T (p.Asp331Val) c.830A>T (p.Asp277Val) c.1139A>T (p.Asp380Val) c.974A>T (p.Asp325Val) c.1223A>T (p.Asp408Val) c.1037A>T (p.Asp346Val) n.1154A>T | |
13 | g.113118744C>A | CA388786418 | F7 | c.1071C>A (p.Asp357Glu) c.1137C>A (p.Asp379Glu) c.885C>A (p.Asp295Glu) n.1158C>A c.930C>A (p.Asp310Glu) c.1179C>A (p.Asp393Glu) c.993C>A (p.Asp331Glu) c.831C>A (p.Asp277Glu) c.1140C>A (p.Asp380Glu) c.975C>A (p.Asp325Glu) c.1224C>A (p.Asp408Glu) c.1038C>A (p.Asp346Glu) n.1155C>A | gnomAD v4 |
13 | g.113118744C= | CA2120142589 | F7 | c.1071C= (p.Asp357=) c.1137C= (p.Asp379=) c.885C= (p.Asp295=) n.1158C= c.930C= (p.Asp310=) c.1179C= (p.Asp393=) c.993C= (p.Asp331=) c.831C= (p.Asp277=) c.1140C= (p.Asp380=) c.975C= (p.Asp325=) c.1224C= (p.Asp408=) c.1038C= (p.Asp346=) n.1155C= | |
13 | g.113118744C>G | CA388786419 | F7 | c.1071C>G (p.Asp357Glu) c.1137C>G (p.Asp379Glu) c.885C>G (p.Asp295Glu) n.1158C>G c.930C>G (p.Asp310Glu) c.1179C>G (p.Asp393Glu) c.993C>G (p.Asp331Glu) c.831C>G (p.Asp277Glu) c.1140C>G (p.Asp380Glu) c.975C>G (p.Asp325Glu) c.1224C>G (p.Asp408Glu) c.1038C>G (p.Asp346Glu) n.1155C>G | dbSNP |
13 | g.113118744C>T | CA485424028 | F7 | c.1071C>T (p.Asp357=) c.1137C>T (p.Asp379=) c.885C>T (p.Asp295=) n.1158C>T c.930C>T (p.Asp310=) c.1179C>T (p.Asp393=) c.993C>T (p.Asp331=) c.831C>T (p.Asp277=) c.1140C>T (p.Asp380=) c.975C>T (p.Asp325=) c.1224C>T (p.Asp408=) c.1038C>T (p.Asp346=) n.1155C>T | gnomAD v4 |
13 | g.113118745T>A | CA388786420 | F7 | c.1072T>A (p.Ser358Thr) c.1138T>A (p.Ser380Thr) c.886T>A (p.Ser296Thr) n.1159T>A c.931T>A (p.Ser311Thr) c.1180T>A (p.Ser394Thr) c.994T>A (p.Ser332Thr) c.832T>A (p.Ser278Thr) c.1141T>A (p.Ser381Thr) c.976T>A (p.Ser326Thr) c.1225T>A (p.Ser409Thr) c.1039T>A (p.Ser347Thr) n.1156T>A | |
13 | g.113118745T>C | CA388786421 | F7 | c.1072T>C (p.Ser358Pro) c.1138T>C (p.Ser380Pro) c.886T>C (p.Ser296Pro) n.1159T>C c.931T>C (p.Ser311Pro) c.1180T>C (p.Ser394Pro) c.994T>C (p.Ser332Pro) c.832T>C (p.Ser278Pro) c.1141T>C (p.Ser381Pro) c.976T>C (p.Ser326Pro) c.1225T>C (p.Ser409Pro) c.1039T>C (p.Ser347Pro) n.1156T>C | |
13 | g.113118745T>G | CA388786422 | F7 | c.1072T>G (p.Ser358Ala) c.1138T>G (p.Ser380Ala) c.886T>G (p.Ser296Ala) n.1159T>G c.931T>G (p.Ser311Ala) c.1180T>G (p.Ser394Ala) c.994T>G (p.Ser332Ala) c.832T>G (p.Ser278Ala) c.1141T>G (p.Ser381Ala) c.976T>G (p.Ser326Ala) c.1225T>G (p.Ser409Ala) c.1039T>G (p.Ser347Ala) n.1156T>G | |
13 | g.113118746C>A | CA388786423 | F7 | c.1073C>A (p.Ser358Tyr) c.1139C>A (p.Ser380Tyr) c.887C>A (p.Ser296Tyr) n.1160C>A c.932C>A (p.Ser311Tyr) c.1181C>A (p.Ser394Tyr) c.995C>A (p.Ser332Tyr) c.833C>A (p.Ser278Tyr) c.1142C>A (p.Ser381Tyr) c.977C>A (p.Ser326Tyr) c.1226C>A (p.Ser409Tyr) c.1040C>A (p.Ser347Tyr) n.1157C>A | |
13 | g.113118746C= | CA2120142593 | F7 | c.1073C= (p.Ser358=) c.1139C= (p.Ser380=) c.887C= (p.Ser296=) n.1160C= c.932C= (p.Ser311=) c.1181C= (p.Ser394=) c.995C= (p.Ser332=) c.833C= (p.Ser278=) c.1142C= (p.Ser381=) c.977C= (p.Ser326=) c.1226C= (p.Ser409=) c.1040C= (p.Ser347=) n.1157C= | |
13 | g.113118746C>G | CA388786424 | F7 | c.1073C>G (p.Ser358Cys) c.1139C>G (p.Ser380Cys) c.887C>G (p.Ser296Cys) n.1160C>G c.932C>G (p.Ser311Cys) c.1181C>G (p.Ser394Cys) c.995C>G (p.Ser332Cys) c.833C>G (p.Ser278Cys) c.1142C>G (p.Ser381Cys) c.977C>G (p.Ser326Cys) c.1226C>G (p.Ser409Cys) c.1040C>G (p.Ser347Cys) n.1157C>G | |
13 | g.113118746C>T | CA388786425 | F7 | c.1073C>T (p.Ser358Phe) c.1139C>T (p.Ser380Phe) c.887C>T (p.Ser296Phe) n.1160C>T c.932C>T (p.Ser311Phe) c.1181C>T (p.Ser394Phe) c.995C>T (p.Ser332Phe) c.833C>T (p.Ser278Phe) c.1142C>T (p.Ser381Phe) c.977C>T (p.Ser326Phe) c.1226C>T (p.Ser409Phe) c.1040C>T (p.Ser347Phe) n.1157C>T | dbSNP |
13 | g.113118747C>A | CA485424029 | F7 | c.1074C>A (p.Ser358=) c.1140C>A (p.Ser380=) c.888C>A (p.Ser296=) n.1161C>A c.933C>A (p.Ser311=) c.1182C>A (p.Ser394=) c.996C>A (p.Ser332=) c.834C>A (p.Ser278=) c.1143C>A (p.Ser381=) c.978C>A (p.Ser326=) c.1227C>A (p.Ser409=) c.1041C>A (p.Ser347=) n.1158C>A | |
13 | g.113118747C>G | CA485424030 | F7 | c.1074C>G (p.Ser358=) c.1140C>G (p.Ser380=) c.888C>G (p.Ser296=) n.1161C>G c.933C>G (p.Ser311=) c.1182C>G (p.Ser394=) c.996C>G (p.Ser332=) c.834C>G (p.Ser278=) c.1143C>G (p.Ser381=) c.978C>G (p.Ser326=) c.1227C>G (p.Ser409=) c.1041C>G (p.Ser347=) n.1158C>G | |
13 | g.113118747C>T | CA485424031 | F7 | c.1074C>T (p.Ser358=) c.1140C>T (p.Ser380=) c.888C>T (p.Ser296=) n.1161C>T c.933C>T (p.Ser311=) c.1182C>T (p.Ser394=) c.996C>T (p.Ser332=) c.834C>T (p.Ser278=) c.1143C>T (p.Ser381=) c.978C>T (p.Ser326=) c.1227C>T (p.Ser409=) c.1041C>T (p.Ser347=) n.1158C>T | gnomAD v4 |
13 | g.113118748C>A | CA388786427 | F7 | c.1075C>A (p.Pro359Thr) c.1141C>A (p.Pro381Thr) c.889C>A (p.Pro297Thr) n.1162C>A c.934C>A (p.Pro312Thr) c.1183C>A (p.Pro395Thr) c.997C>A (p.Pro333Thr) c.835C>A (p.Pro279Thr) c.1144C>A (p.Pro382Thr) c.979C>A (p.Pro327Thr) c.1228C>A (p.Pro410Thr) c.1042C>A (p.Pro348Thr) n.1159C>A | gnomAD v4 |
13 | g.113118748C= | CA2120142598 | F7 | c.1075C= (p.Pro359=) c.1141C= (p.Pro381=) c.889C= (p.Pro297=) n.1162C= c.934C= (p.Pro312=) c.1183C= (p.Pro395=) c.997C= (p.Pro333=) c.835C= (p.Pro279=) c.1144C= (p.Pro382=) c.979C= (p.Pro327=) c.1228C= (p.Pro410=) c.1042C= (p.Pro348=) n.1159C= | |
13 | g.113118748C>G | CA388786426 | F7 | c.1075C>G (p.Pro359Ala) c.1141C>G (p.Pro381Ala) c.889C>G (p.Pro297Ala) n.1162C>G c.934C>G (p.Pro312Ala) c.1183C>G (p.Pro395Ala) c.997C>G (p.Pro333Ala) c.835C>G (p.Pro279Ala) c.1144C>G (p.Pro382Ala) c.979C>G (p.Pro327Ala) c.1228C>G (p.Pro410Ala) c.1042C>G (p.Pro348Ala) n.1159C>G | |
13 | g.113118748C>T | CA7060227 | F7 | c.1075C>T (p.Pro359Ser) c.1141C>T (p.Pro381Ser) c.889C>T (p.Pro297Ser) n.1162C>T c.934C>T (p.Pro312Ser) c.1183C>T (p.Pro395Ser) c.997C>T (p.Pro333Ser) c.835C>T (p.Pro279Ser) c.1144C>T (p.Pro382Ser) c.979C>T (p.Pro327Ser) c.1228C>T (p.Pro410Ser) c.1042C>T (p.Pro348Ser) n.1159C>T | dbSNP ExAC gnomAD v2 |
13 | g.113118749C>A | CA388786428 | F7 | c.1076C>A (p.Pro359Gln) c.1142C>A (p.Pro381Gln) c.890C>A (p.Pro297Gln) n.1163C>A c.935C>A (p.Pro312Gln) c.1184C>A (p.Pro395Gln) c.998C>A (p.Pro333Gln) c.836C>A (p.Pro279Gln) c.1145C>A (p.Pro382Gln) c.980C>A (p.Pro327Gln) c.1229C>A (p.Pro410Gln) c.1043C>A (p.Pro348Gln) n.1160C>A | |
13 | g.113118749C>G | CA388786430 | F7 | c.1076C>G (p.Pro359Arg) c.1142C>G (p.Pro381Arg) c.890C>G (p.Pro297Arg) n.1163C>G c.935C>G (p.Pro312Arg) c.1184C>G (p.Pro395Arg) c.998C>G (p.Pro333Arg) c.836C>G (p.Pro279Arg) c.1145C>G (p.Pro382Arg) c.980C>G (p.Pro327Arg) c.1229C>G (p.Pro410Arg) c.1043C>G (p.Pro348Arg) n.1160C>G | |
13 | g.113118749C>T | CA388786429 | F7 | c.1076C>T (p.Pro359Leu) c.1142C>T (p.Pro381Leu) c.890C>T (p.Pro297Leu) n.1163C>T c.935C>T (p.Pro312Leu) c.1184C>T (p.Pro395Leu) c.998C>T (p.Pro333Leu) c.836C>T (p.Pro279Leu) c.1145C>T (p.Pro382Leu) c.980C>T (p.Pro327Leu) c.1229C>T (p.Pro410Leu) c.1043C>T (p.Pro348Leu) n.1160C>T | dbSNP |
13 | g.113118750A>C | CA485424032 | F7 | c.1077A>C (p.Pro359=) c.1143A>C (p.Pro381=) c.891A>C (p.Pro297=) n.1164A>C c.936A>C (p.Pro312=) c.1185A>C (p.Pro395=) c.999A>C (p.Pro333=) c.837A>C (p.Pro279=) c.1146A>C (p.Pro382=) c.981A>C (p.Pro327=) c.1230A>C (p.Pro410=) c.1044A>C (p.Pro348=) n.1161A>C | |
13 | g.113118750A>G | CA485424033 | F7 | c.1077A>G (p.Pro359=) c.1143A>G (p.Pro381=) c.891A>G (p.Pro297=) n.1164A>G c.936A>G (p.Pro312=) c.1185A>G (p.Pro395=) c.999A>G (p.Pro333=) c.837A>G (p.Pro279=) c.1146A>G (p.Pro382=) c.981A>G (p.Pro327=) c.1230A>G (p.Pro410=) c.1044A>G (p.Pro348=) n.1161A>G | |
13 | g.113118750A>T | CA485424034 | F7 | c.1077A>T (p.Pro359=) c.1143A>T (p.Pro381=) c.891A>T (p.Pro297=) n.1164A>T c.936A>T (p.Pro312=) c.1185A>T (p.Pro395=) c.999A>T (p.Pro333=) c.837A>T (p.Pro279=) c.1146A>T (p.Pro382=) c.981A>T (p.Pro327=) c.1230A>T (p.Pro410=) c.1044A>T (p.Pro348=) n.1161A>T | |
13 | g.113118751A= | CA2120142601 | F7 | c.1078A= (p.Asn360=) c.1144A= (p.Asn382=) c.892A= (p.Asn298=) n.1165A= c.937A= (p.Asn313=) c.1186A= (p.Asn396=) c.1000A= (p.Asn334=) c.838A= (p.Asn280=) c.1147A= (p.Asn383=) c.982A= (p.Asn328=) c.1231A= (p.Asn411=) c.1045A= (p.Asn349=) n.1162A= | |
13 | g.113118751A>C | CA388786431 | F7 | c.1078A>C (p.Asn360His) c.1144A>C (p.Asn382His) c.892A>C (p.Asn298His) n.1165A>C c.937A>C (p.Asn313His) c.1186A>C (p.Asn396His) c.1000A>C (p.Asn334His) c.838A>C (p.Asn280His) c.1147A>C (p.Asn383His) c.982A>C (p.Asn328His) c.1231A>C (p.Asn411His) c.1045A>C (p.Asn349His) n.1162A>C | dbSNP gnomAD v4 |
13 | g.113118751A>G | CA7060228 | F7 | c.1078A>G (p.Asn360Asp) c.1144A>G (p.Asn382Asp) c.892A>G (p.Asn298Asp) n.1165A>G c.937A>G (p.Asn313Asp) c.1186A>G (p.Asn396Asp) c.1000A>G (p.Asn334Asp) c.838A>G (p.Asn280Asp) c.1147A>G (p.Asn383Asp) c.982A>G (p.Asn328Asp) c.1231A>G (p.Asn411Asp) c.1045A>G (p.Asn349Asp) n.1162A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118751A>T | CA388786432 | F7 | c.1078A>T (p.Asn360Tyr) c.1144A>T (p.Asn382Tyr) c.892A>T (p.Asn298Tyr) n.1165A>T c.937A>T (p.Asn313Tyr) c.1186A>T (p.Asn396Tyr) c.1000A>T (p.Asn334Tyr) c.838A>T (p.Asn280Tyr) c.1147A>T (p.Asn383Tyr) c.982A>T (p.Asn328Tyr) c.1231A>T (p.Asn411Tyr) c.1045A>T (p.Asn349Tyr) n.1162A>T | gnomAD v4 |
13 | g.113118752A>C | CA388786433 | F7 | c.1079A>C (p.Asn360Thr) c.1145A>C (p.Asn382Thr) c.893A>C (p.Asn298Thr) n.1166A>C c.938A>C (p.Asn313Thr) c.1187A>C (p.Asn396Thr) c.1001A>C (p.Asn334Thr) c.839A>C (p.Asn280Thr) c.1148A>C (p.Asn383Thr) c.983A>C (p.Asn328Thr) c.1232A>C (p.Asn411Thr) c.1046A>C (p.Asn349Thr) n.1163A>C | |
13 | g.113118752A>G | CA388786434 | F7 | c.1079A>G (p.Asn360Ser) c.1145A>G (p.Asn382Ser) c.893A>G (p.Asn298Ser) n.1166A>G c.938A>G (p.Asn313Ser) c.1187A>G (p.Asn396Ser) c.1001A>G (p.Asn334Ser) c.839A>G (p.Asn280Ser) c.1148A>G (p.Asn383Ser) c.983A>G (p.Asn328Ser) c.1232A>G (p.Asn411Ser) c.1046A>G (p.Asn349Ser) n.1163A>G | |
13 | g.113118752A>T | CA388786436 | F7 | c.1079A>T (p.Asn360Ile) c.1145A>T (p.Asn382Ile) c.893A>T (p.Asn298Ile) n.1166A>T c.938A>T (p.Asn313Ile) c.1187A>T (p.Asn396Ile) c.1001A>T (p.Asn334Ile) c.839A>T (p.Asn280Ile) c.1148A>T (p.Asn383Ile) c.983A>T (p.Asn328Ile) c.1232A>T (p.Asn411Ile) c.1046A>T (p.Asn349Ile) n.1163A>T | |
13 | g.113118753T>A | CA388786437 | F7 | c.1080T>A (p.Asn360Lys) c.1146T>A (p.Asn382Lys) c.894T>A (p.Asn298Lys) n.1167T>A c.939T>A (p.Asn313Lys) c.1188T>A (p.Asn396Lys) c.1002T>A (p.Asn334Lys) c.840T>A (p.Asn280Lys) c.1149T>A (p.Asn383Lys) c.984T>A (p.Asn328Lys) c.1233T>A (p.Asn411Lys) c.1047T>A (p.Asn349Lys) n.1164T>A | |
13 | g.113118753T>C | CA485424035 | F7 | c.1080T>C (p.Asn360=) c.1146T>C (p.Asn382=) c.894T>C (p.Asn298=) n.1167T>C c.939T>C (p.Asn313=) c.1188T>C (p.Asn396=) c.1002T>C (p.Asn334=) c.840T>C (p.Asn280=) c.1149T>C (p.Asn383=) c.984T>C (p.Asn328=) c.1233T>C (p.Asn411=) c.1047T>C (p.Asn349=) n.1164T>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118753T>G | CA388786439 | F7 | c.1080T>G (p.Asn360Lys) c.1146T>G (p.Asn382Lys) c.894T>G (p.Asn298Lys) n.1167T>G c.939T>G (p.Asn313Lys) c.1188T>G (p.Asn396Lys) c.1002T>G (p.Asn334Lys) c.840T>G (p.Asn280Lys) c.1149T>G (p.Asn383Lys) c.984T>G (p.Asn328Lys) c.1233T>G (p.Asn411Lys) c.1047T>G (p.Asn349Lys) n.1164T>G | |
13 | g.113118753T= | CA2120142604 | F7 | c.1080T= (p.Asn360=) c.1146T= (p.Asn382=) c.894T= (p.Asn298=) n.1167T= c.939T= (p.Asn313=) c.1188T= (p.Asn396=) c.1002T= (p.Asn334=) c.840T= (p.Asn280=) c.1149T= (p.Asn383=) c.984T= (p.Asn328=) c.1233T= (p.Asn411=) c.1047T= (p.Asn349=) n.1164T= | |
13 | g.113118754A>C | CA388786441 | F7 | c.1081A>C (p.Ile361Leu) c.1147A>C (p.Ile383Leu) c.895A>C (p.Ile299Leu) n.1168A>C c.940A>C (p.Ile314Leu) c.1189A>C (p.Ile397Leu) c.1003A>C (p.Ile335Leu) c.841A>C (p.Ile281Leu) c.1150A>C (p.Ile384Leu) c.985A>C (p.Ile329Leu) c.1234A>C (p.Ile412Leu) c.1048A>C (p.Ile350Leu) n.1165A>C | |
13 | g.113118754A>G | CA388786443 | F7 | c.1081A>G (p.Ile361Val) c.1147A>G (p.Ile383Val) c.895A>G (p.Ile299Val) n.1168A>G c.940A>G (p.Ile314Val) c.1189A>G (p.Ile397Val) c.1003A>G (p.Ile335Val) c.841A>G (p.Ile281Val) c.1150A>G (p.Ile384Val) c.985A>G (p.Ile329Val) c.1234A>G (p.Ile412Val) c.1048A>G (p.Ile350Val) n.1165A>G | |
13 | g.113118754A>T | CA388786445 | F7 | c.1081A>T (p.Ile361Phe) c.1147A>T (p.Ile383Phe) c.895A>T (p.Ile299Phe) n.1168A>T c.940A>T (p.Ile314Phe) c.1189A>T (p.Ile397Phe) c.1003A>T (p.Ile335Phe) c.841A>T (p.Ile281Phe) c.1150A>T (p.Ile384Phe) c.985A>T (p.Ile329Phe) c.1234A>T (p.Ile412Phe) c.1048A>T (p.Ile350Phe) n.1165A>T | |
13 | g.113118755T>A | CA388786450 | F7 | c.1082T>A (p.Ile361Asn) c.1148T>A (p.Ile383Asn) c.896T>A (p.Ile299Asn) n.1169T>A c.941T>A (p.Ile314Asn) c.1190T>A (p.Ile397Asn) c.1004T>A (p.Ile335Asn) c.842T>A (p.Ile281Asn) c.1151T>A (p.Ile384Asn) c.986T>A (p.Ile329Asn) c.1235T>A (p.Ile412Asn) c.1049T>A (p.Ile350Asn) n.1166T>A | |
13 | g.113118755T>C | CA388786447 | F7 | c.1082T>C (p.Ile361Thr) c.1148T>C (p.Ile383Thr) c.896T>C (p.Ile299Thr) n.1169T>C c.941T>C (p.Ile314Thr) c.1190T>C (p.Ile397Thr) c.1004T>C (p.Ile335Thr) c.842T>C (p.Ile281Thr) c.1151T>C (p.Ile384Thr) c.986T>C (p.Ile329Thr) c.1235T>C (p.Ile412Thr) c.1049T>C (p.Ile350Thr) n.1166T>C | |
13 | g.113118755T>G | CA388786448 | F7 | c.1082T>G (p.Ile361Ser) c.1148T>G (p.Ile383Ser) c.896T>G (p.Ile299Ser) n.1169T>G c.941T>G (p.Ile314Ser) c.1190T>G (p.Ile397Ser) c.1004T>G (p.Ile335Ser) c.842T>G (p.Ile281Ser) c.1151T>G (p.Ile384Ser) c.986T>G (p.Ile329Ser) c.1235T>G (p.Ile412Ser) c.1049T>G (p.Ile350Ser) n.1166T>G | |
13 | g.113118756C>A | CA485424037 | F7 | c.1083C>A (p.Ile361=) c.1149C>A (p.Ile383=) c.897C>A (p.Ile299=) n.1170C>A c.942C>A (p.Ile314=) c.1191C>A (p.Ile397=) c.1005C>A (p.Ile335=) c.843C>A (p.Ile281=) c.1152C>A (p.Ile384=) c.987C>A (p.Ile329=) c.1236C>A (p.Ile412=) c.1050C>A (p.Ile350=) n.1167C>A | |
13 | g.113118756C= | CA2120142609 | F7 | c.1083C= (p.Ile361=) c.1149C= (p.Ile383=) c.897C= (p.Ile299=) n.1170C= c.942C= (p.Ile314=) c.1191C= (p.Ile397=) c.1005C= (p.Ile335=) c.843C= (p.Ile281=) c.1152C= (p.Ile384=) c.987C= (p.Ile329=) c.1236C= (p.Ile412=) c.1050C= (p.Ile350=) n.1167C= | |
13 | g.113118756C>G | CA388786452 | F7 | c.1083C>G (p.Ile361Met) c.1149C>G (p.Ile383Met) c.897C>G (p.Ile299Met) n.1170C>G c.942C>G (p.Ile314Met) c.1191C>G (p.Ile397Met) c.1005C>G (p.Ile335Met) c.843C>G (p.Ile281Met) c.1152C>G (p.Ile384Met) c.987C>G (p.Ile329Met) c.1236C>G (p.Ile412Met) c.1050C>G (p.Ile350Met) n.1167C>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118756C>T | CA485424036 | F7 | c.1083C>T (p.Ile361=) c.1149C>T (p.Ile383=) c.897C>T (p.Ile299=) n.1170C>T c.942C>T (p.Ile314=) c.1191C>T (p.Ile397=) c.1005C>T (p.Ile335=) c.843C>T (p.Ile281=) c.1152C>T (p.Ile384=) c.987C>T (p.Ile329=) c.1236C>T (p.Ile412=) c.1050C>T (p.Ile350=) n.1167C>T | gnomAD v4 |
13 | g.113118757A>C | CA388786454 | F7 | c.1084A>C (p.Thr362Pro) c.1150A>C (p.Thr384Pro) c.898A>C (p.Thr300Pro) n.1171A>C c.943A>C (p.Thr315Pro) c.1192A>C (p.Thr398Pro) c.1006A>C (p.Thr336Pro) c.844A>C (p.Thr282Pro) c.1153A>C (p.Thr385Pro) c.988A>C (p.Thr330Pro) c.1237A>C (p.Thr413Pro) c.1051A>C (p.Thr351Pro) n.1168A>C | |
13 | g.113118757A>G | CA388786456 | F7 | c.1084A>G (p.Thr362Ala) c.1150A>G (p.Thr384Ala) c.898A>G (p.Thr300Ala) n.1171A>G c.943A>G (p.Thr315Ala) c.1192A>G (p.Thr398Ala) c.1006A>G (p.Thr336Ala) c.844A>G (p.Thr282Ala) c.1153A>G (p.Thr385Ala) c.988A>G (p.Thr330Ala) c.1237A>G (p.Thr413Ala) c.1051A>G (p.Thr351Ala) n.1168A>G | |
13 | g.113118757A>T | CA388786457 | F7 | c.1084A>T (p.Thr362Ser) c.1150A>T (p.Thr384Ser) c.898A>T (p.Thr300Ser) n.1171A>T c.943A>T (p.Thr315Ser) c.1192A>T (p.Thr398Ser) c.1006A>T (p.Thr336Ser) c.844A>T (p.Thr282Ser) c.1153A>T (p.Thr385Ser) c.988A>T (p.Thr330Ser) c.1237A>T (p.Thr413Ser) c.1051A>T (p.Thr351Ser) n.1168A>T | |
13 | g.113118758C>A | CA388786459 | F7 | c.1085C>A (p.Thr362Lys) c.1151C>A (p.Thr384Lys) c.899C>A (p.Thr300Lys) n.1172C>A c.944C>A (p.Thr315Lys) c.1193C>A (p.Thr398Lys) c.1007C>A (p.Thr336Lys) c.845C>A (p.Thr282Lys) c.1154C>A (p.Thr385Lys) c.989C>A (p.Thr330Lys) c.1238C>A (p.Thr413Lys) c.1052C>A (p.Thr351Lys) n.1169C>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118758C= | CA2120142616 | F7 | c.1085C= (p.Thr362=) c.1151C= (p.Thr384=) c.899C= (p.Thr300=) n.1172C= c.944C= (p.Thr315=) c.1193C= (p.Thr398=) c.1007C= (p.Thr336=) c.845C= (p.Thr282=) c.1154C= (p.Thr385=) c.989C= (p.Thr330=) c.1238C= (p.Thr413=) c.1052C= (p.Thr351=) n.1169C= | |
13 | g.113118758C>G | CA388786461 | F7 | c.1085C>G (p.Thr362Arg) c.1151C>G (p.Thr384Arg) c.899C>G (p.Thr300Arg) n.1172C>G c.944C>G (p.Thr315Arg) c.1193C>G (p.Thr398Arg) c.1007C>G (p.Thr336Arg) c.845C>G (p.Thr282Arg) c.1154C>G (p.Thr385Arg) c.989C>G (p.Thr330Arg) c.1238C>G (p.Thr413Arg) c.1052C>G (p.Thr351Arg) n.1169C>G | |
13 | g.113118758C>T | CA7060229 | F7 | c.1085C>T (p.Thr362Met) c.1151C>T (p.Thr384Met) c.899C>T (p.Thr300Met) n.1172C>T c.944C>T (p.Thr315Met) c.1193C>T (p.Thr398Met) c.1007C>T (p.Thr336Met) c.845C>T (p.Thr282Met) c.1154C>T (p.Thr385Met) c.989C>T (p.Thr330Met) c.1238C>T (p.Thr413Met) c.1052C>T (p.Thr351Met) n.1169C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118759G>A | CA7060230 | F7 | c.1086G>A (p.Thr362=) c.1152G>A (p.Thr384=) c.900G>A (p.Thr300=) n.1173G>A c.945G>A (p.Thr315=) c.1194G>A (p.Thr398=) c.1008G>A (p.Thr336=) c.846G>A (p.Thr282=) c.1155G>A (p.Thr385=) c.990G>A (p.Thr330=) c.1239G>A (p.Thr413=) c.1053G>A (p.Thr351=) n.1170G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118759G>C | CA485424038 | F7 | c.1086G>C (p.Thr362=) c.1152G>C (p.Thr384=) c.900G>C (p.Thr300=) n.1173G>C c.945G>C (p.Thr315=) c.1194G>C (p.Thr398=) c.1008G>C (p.Thr336=) c.846G>C (p.Thr282=) c.1155G>C (p.Thr385=) c.990G>C (p.Thr330=) c.1239G>C (p.Thr413=) c.1053G>C (p.Thr351=) n.1170G>C | |
13 | g.113118759G= | CA2120142626 | F7 | c.1086G= (p.Thr362=) c.1152G= (p.Thr384=) c.900G= (p.Thr300=) n.1173G= c.945G= (p.Thr315=) c.1194G= (p.Thr398=) c.1008G= (p.Thr336=) c.846G= (p.Thr282=) c.1155G= (p.Thr385=) c.990G= (p.Thr330=) c.1239G= (p.Thr413=) c.1053G= (p.Thr351=) n.1170G= | |
13 | g.113118759G>T | CA485424039 | F7 | c.1086G>T (p.Thr362=) c.1152G>T (p.Thr384=) c.900G>T (p.Thr300=) n.1173G>T c.945G>T (p.Thr315=) c.1194G>T (p.Thr398=) c.1008G>T (p.Thr336=) c.846G>T (p.Thr282=) c.1155G>T (p.Thr385=) c.990G>T (p.Thr330=) c.1239G>T (p.Thr413=) c.1053G>T (p.Thr351=) n.1170G>T | |
13 | g.113118760G>A | CA388786464 | F7 | c.1087G>A (p.Glu363Lys) c.1153G>A (p.Glu385Lys) c.901G>A (p.Glu301Lys) n.1174G>A c.946G>A (p.Glu316Lys) c.1195G>A (p.Glu399Lys) c.1009G>A (p.Glu337Lys) c.847G>A (p.Glu283Lys) c.1156G>A (p.Glu386Lys) c.991G>A (p.Glu331Lys) c.1240G>A (p.Glu414Lys) c.1054G>A (p.Glu352Lys) n.1171G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118760G>C | CA388786466 | F7 | c.1087G>C (p.Glu363Gln) c.1153G>C (p.Glu385Gln) c.901G>C (p.Glu301Gln) n.1174G>C c.946G>C (p.Glu316Gln) c.1195G>C (p.Glu399Gln) c.1009G>C (p.Glu337Gln) c.847G>C (p.Glu283Gln) c.1156G>C (p.Glu386Gln) c.991G>C (p.Glu331Gln) c.1240G>C (p.Glu414Gln) c.1054G>C (p.Glu352Gln) n.1171G>C | |
13 | g.113118760G= | CA2120142629 | F7 | c.1087G= (p.Glu363=) c.1153G= (p.Glu385=) c.901G= (p.Glu301=) n.1174G= c.946G= (p.Glu316=) c.1195G= (p.Glu399=) c.1009G= (p.Glu337=) c.847G= (p.Glu283=) c.1156G= (p.Glu386=) c.991G= (p.Glu331=) c.1240G= (p.Glu414=) c.1054G= (p.Glu352=) n.1171G= | |
13 | g.113118760G>T | CA388786469 | F7 | c.1087G>T (p.Glu363Ter) c.1153G>T (p.Glu385Ter) c.901G>T (p.Glu301Ter) n.1174G>T c.946G>T (p.Glu316Ter) c.1195G>T (p.Glu399Ter) c.1009G>T (p.Glu337Ter) c.847G>T (p.Glu283Ter) c.1156G>T (p.Glu386Ter) c.991G>T (p.Glu331Ter) c.1240G>T (p.Glu414Ter) c.1054G>T (p.Glu352Ter) n.1171G>T | |
13 | g.113118761A>C | CA388786473 | F7 | c.1088A>C (p.Glu363Ala) c.1154A>C (p.Glu385Ala) c.902A>C (p.Glu301Ala) n.1175A>C c.947A>C (p.Glu316Ala) c.1196A>C (p.Glu399Ala) c.1010A>C (p.Glu337Ala) c.848A>C (p.Glu283Ala) c.1157A>C (p.Glu386Ala) c.992A>C (p.Glu331Ala) c.1241A>C (p.Glu414Ala) c.1055A>C (p.Glu352Ala) n.1172A>C | |
13 | g.113118761A>G | CA388786475 | F7 | c.1088A>G (p.Glu363Gly) c.1154A>G (p.Glu385Gly) c.902A>G (p.Glu301Gly) n.1175A>G c.947A>G (p.Glu316Gly) c.1196A>G (p.Glu399Gly) c.1010A>G (p.Glu337Gly) c.848A>G (p.Glu283Gly) c.1157A>G (p.Glu386Gly) c.992A>G (p.Glu331Gly) c.1241A>G (p.Glu414Gly) c.1055A>G (p.Glu352Gly) n.1172A>G | |
13 | g.113118761A>T | CA388786471 | F7 | c.1088A>T (p.Glu363Val) c.1154A>T (p.Glu385Val) c.902A>T (p.Glu301Val) n.1175A>T c.947A>T (p.Glu316Val) c.1196A>T (p.Glu399Val) c.1010A>T (p.Glu337Val) c.848A>T (p.Glu283Val) c.1157A>T (p.Glu386Val) c.992A>T (p.Glu331Val) c.1241A>T (p.Glu414Val) c.1055A>T (p.Glu352Val) n.1172A>T | |
13 | g.113118762G>A | CA256461783 | F7 | c.1089G>A (p.Glu363=) c.1155G>A (p.Glu385=) c.903G>A (p.Glu301=) n.1176G>A c.948G>A (p.Glu316=) c.1197G>A (p.Glu399=) c.1011G>A (p.Glu337=) c.849G>A (p.Glu283=) c.1158G>A (p.Glu386=) c.993G>A (p.Glu331=) c.1242G>A (p.Glu414=) c.1056G>A (p.Glu352=) n.1173G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118762G>C | CA7060231 | F7 | c.1089G>C (p.Glu363Asp) c.1155G>C (p.Glu385Asp) c.903G>C (p.Glu301Asp) n.1176G>C c.948G>C (p.Glu316Asp) c.1197G>C (p.Glu399Asp) c.1011G>C (p.Glu337Asp) c.849G>C (p.Glu283Asp) c.1158G>C (p.Glu386Asp) c.993G>C (p.Glu331Asp) c.1242G>C (p.Glu414Asp) c.1056G>C (p.Glu352Asp) n.1173G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118762G= | CA2120142633 | F7 | c.1089G= (p.Glu363=) c.1155G= (p.Glu385=) c.903G= (p.Glu301=) n.1176G= c.948G= (p.Glu316=) c.1197G= (p.Glu399=) c.1011G= (p.Glu337=) c.849G= (p.Glu283=) c.1158G= (p.Glu386=) c.993G= (p.Glu331=) c.1242G= (p.Glu414=) c.1056G= (p.Glu352=) n.1173G= | |
13 | g.113118762G>T | CA388786479 | F7 | c.1089G>T (p.Glu363Asp) c.1155G>T (p.Glu385Asp) c.903G>T (p.Glu301Asp) n.1176G>T c.948G>T (p.Glu316Asp) c.1197G>T (p.Glu399Asp) c.1011G>T (p.Glu337Asp) c.849G>T (p.Glu283Asp) c.1158G>T (p.Glu386Asp) c.993G>T (p.Glu331Asp) c.1242G>T (p.Glu414Asp) c.1056G>T (p.Glu352Asp) n.1173G>T | |
13 | g.113118763T>A | CA388786482 | F7 | c.1090T>A (p.Tyr364Asn) c.1156T>A (p.Tyr386Asn) c.904T>A (p.Tyr302Asn) n.1177T>A c.949T>A (p.Tyr317Asn) c.1198T>A (p.Tyr400Asn) c.1012T>A (p.Tyr338Asn) c.850T>A (p.Tyr284Asn) c.1159T>A (p.Tyr387Asn) c.994T>A (p.Tyr332Asn) c.1243T>A (p.Tyr415Asn) c.1057T>A (p.Tyr353Asn) n.1174T>A | |
13 | g.113118763T>C | CA388786483 | F7 | c.1090T>C (p.Tyr364His) c.1156T>C (p.Tyr386His) c.904T>C (p.Tyr302His) n.1177T>C c.949T>C (p.Tyr317His) c.1198T>C (p.Tyr400His) c.1012T>C (p.Tyr338His) c.850T>C (p.Tyr284His) c.1159T>C (p.Tyr387His) c.994T>C (p.Tyr332His) c.1243T>C (p.Tyr415His) c.1057T>C (p.Tyr353His) n.1174T>C | |
13 | g.113118763T>G | CA388786485 | F7 | c.1090T>G (p.Tyr364Asp) c.1156T>G (p.Tyr386Asp) c.904T>G (p.Tyr302Asp) n.1177T>G c.949T>G (p.Tyr317Asp) c.1198T>G (p.Tyr400Asp) c.1012T>G (p.Tyr338Asp) c.850T>G (p.Tyr284Asp) c.1159T>G (p.Tyr387Asp) c.994T>G (p.Tyr332Asp) c.1243T>G (p.Tyr415Asp) c.1057T>G (p.Tyr353Asp) n.1174T>G | |
13 | g.113118766_113118783del | CA2695218991 | F7 | c.1093_1110del (p.Met365_Tyr370del) c.1159_1176del (p.Met387_Tyr392del) c.907_924del (p.Met303_Tyr308del) n.1180_1197del c.952_969del (p.Met318_Tyr323del) c.1201_1218del (p.Met401_Tyr406del) c.1015_1032del (p.Met339_Tyr344del) c.853_870del (p.Met285_Tyr290del) c.1162_1179del (p.Met388_Tyr393del) c.997_1014del (p.Met333_Tyr338del) c.1246_1263del (p.Met416_Tyr421del) c.1060_1077del (p.Met354_Tyr359del) n.1177_1194del | |
13 | g.113118764A>C | CA388786487 | F7 | c.1091A>C (p.Tyr364Ser) c.1157A>C (p.Tyr386Ser) c.905A>C (p.Tyr302Ser) n.1178A>C c.950A>C (p.Tyr317Ser) c.1199A>C (p.Tyr400Ser) c.1013A>C (p.Tyr338Ser) c.851A>C (p.Tyr284Ser) c.1160A>C (p.Tyr387Ser) c.995A>C (p.Tyr332Ser) c.1244A>C (p.Tyr415Ser) c.1058A>C (p.Tyr353Ser) n.1175A>C | |
13 | g.113118764A>G | CA388786490 | F7 | c.1091A>G (p.Tyr364Cys) c.1157A>G (p.Tyr386Cys) c.905A>G (p.Tyr302Cys) n.1178A>G c.950A>G (p.Tyr317Cys) c.1199A>G (p.Tyr400Cys) c.1013A>G (p.Tyr338Cys) c.851A>G (p.Tyr284Cys) c.1160A>G (p.Tyr387Cys) c.995A>G (p.Tyr332Cys) c.1244A>G (p.Tyr415Cys) c.1058A>G (p.Tyr353Cys) n.1175A>G | gnomAD v4 |
13 | g.113118764A>T | CA388786491 | F7 | c.1091A>T (p.Tyr364Phe) c.1157A>T (p.Tyr386Phe) c.905A>T (p.Tyr302Phe) n.1178A>T c.950A>T (p.Tyr317Phe) c.1199A>T (p.Tyr400Phe) c.1013A>T (p.Tyr338Phe) c.851A>T (p.Tyr284Phe) c.1160A>T (p.Tyr387Phe) c.995A>T (p.Tyr332Phe) c.1244A>T (p.Tyr415Phe) c.1058A>T (p.Tyr353Phe) n.1175A>T | |
13 | g.113118765C>A | CA388786493 | F7 | c.1092C>A (p.Tyr364Ter) c.1158C>A (p.Tyr386Ter) c.906C>A (p.Tyr302Ter) n.1179C>A c.951C>A (p.Tyr317Ter) c.1200C>A (p.Tyr400Ter) c.1014C>A (p.Tyr338Ter) c.852C>A (p.Tyr284Ter) c.1161C>A (p.Tyr387Ter) c.996C>A (p.Tyr332Ter) c.1245C>A (p.Tyr415Ter) c.1059C>A (p.Tyr353Ter) n.1176C>A | |
13 | g.113118765C= | CA2120142639 | F7 | c.1092C= (p.Tyr364=) c.1158C= (p.Tyr386=) c.906C= (p.Tyr302=) n.1179C= c.951C= (p.Tyr317=) c.1200C= (p.Tyr400=) c.1014C= (p.Tyr338=) c.852C= (p.Tyr284=) c.1161C= (p.Tyr387=) c.996C= (p.Tyr332=) c.1245C= (p.Tyr415=) c.1059C= (p.Tyr353=) n.1176C= | |
13 | g.113118765C>G | CA388786495 | F7 | c.1092C>G (p.Tyr364Ter) c.1158C>G (p.Tyr386Ter) c.906C>G (p.Tyr302Ter) n.1179C>G c.951C>G (p.Tyr317Ter) c.1200C>G (p.Tyr400Ter) c.1014C>G (p.Tyr338Ter) c.852C>G (p.Tyr284Ter) c.1161C>G (p.Tyr387Ter) c.996C>G (p.Tyr332Ter) c.1245C>G (p.Tyr415Ter) c.1059C>G (p.Tyr353Ter) n.1176C>G | |
13 | g.113118765C>T | CA7060232 | F7 | c.1092C>T (p.Tyr364=) c.1158C>T (p.Tyr386=) c.906C>T (p.Tyr302=) n.1179C>T c.951C>T (p.Tyr317=) c.1200C>T (p.Tyr400=) c.1014C>T (p.Tyr338=) c.852C>T (p.Tyr284=) c.1161C>T (p.Tyr387=) c.996C>T (p.Tyr332=) c.1245C>T (p.Tyr415=) c.1059C>T (p.Tyr353=) n.1176C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118766A= | CA2120142643 | F7 | c.1093A= (p.Met365=) c.1159A= (p.Met387=) c.907A= (p.Met303=) n.1180A= c.952A= (p.Met318=) c.1201A= (p.Met401=) c.1015A= (p.Met339=) c.853A= (p.Met285=) c.1162A= (p.Met388=) c.997A= (p.Met333=) c.1246A= (p.Met416=) c.1060A= (p.Met354=) n.1177A= | |
13 | g.113118766A>C | CA388786500 | F7 | c.1093A>C (p.Met365Leu) c.1159A>C (p.Met387Leu) c.907A>C (p.Met303Leu) n.1180A>C c.952A>C (p.Met318Leu) c.1201A>C (p.Met401Leu) c.1015A>C (p.Met339Leu) c.853A>C (p.Met285Leu) c.1162A>C (p.Met388Leu) c.997A>C (p.Met333Leu) c.1246A>C (p.Met416Leu) c.1060A>C (p.Met354Leu) n.1177A>C | |
13 | g.113118766A>G | CA388786501 | F7 | c.1093A>G (p.Met365Val) c.1159A>G (p.Met387Val) c.907A>G (p.Met303Val) n.1180A>G c.952A>G (p.Met318Val) c.1201A>G (p.Met401Val) c.1015A>G (p.Met339Val) c.853A>G (p.Met285Val) c.1162A>G (p.Met388Val) c.997A>G (p.Met333Val) c.1246A>G (p.Met416Val) c.1060A>G (p.Met354Val) n.1177A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118766A>T | CA388786498 | F7 | c.1093A>T (p.Met365Leu) c.1159A>T (p.Met387Leu) c.907A>T (p.Met303Leu) n.1180A>T c.952A>T (p.Met318Leu) c.1201A>T (p.Met401Leu) c.1015A>T (p.Met339Leu) c.853A>T (p.Met285Leu) c.1162A>T (p.Met388Leu) c.997A>T (p.Met333Leu) c.1246A>T (p.Met416Leu) c.1060A>T (p.Met354Leu) n.1177A>T | |
13 | g.113118767T>A | CA388786503 | F7 | c.1094T>A (p.Met365Lys) c.1160T>A (p.Met387Lys) c.908T>A (p.Met303Lys) n.1181T>A c.953T>A (p.Met318Lys) c.1202T>A (p.Met401Lys) c.1016T>A (p.Met339Lys) c.854T>A (p.Met285Lys) c.1163T>A (p.Met388Lys) c.998T>A (p.Met333Lys) c.1247T>A (p.Met416Lys) c.1061T>A (p.Met354Lys) n.1178T>A | |
13 | g.113118767T>C | CA388786505 | F7 | c.1094T>C (p.Met365Thr) c.1160T>C (p.Met387Thr) c.908T>C (p.Met303Thr) n.1181T>C c.953T>C (p.Met318Thr) c.1202T>C (p.Met401Thr) c.1016T>C (p.Met339Thr) c.854T>C (p.Met285Thr) c.1163T>C (p.Met388Thr) c.998T>C (p.Met333Thr) c.1247T>C (p.Met416Thr) c.1061T>C (p.Met354Thr) n.1178T>C | ClinVar dbSNP |
13 | g.113118767T>G | CA388786507 | F7 | c.1094T>G (p.Met365Arg) c.1160T>G (p.Met387Arg) c.908T>G (p.Met303Arg) n.1181T>G c.953T>G (p.Met318Arg) c.1202T>G (p.Met401Arg) c.1016T>G (p.Met339Arg) c.854T>G (p.Met285Arg) c.1163T>G (p.Met388Arg) c.998T>G (p.Met333Arg) c.1247T>G (p.Met416Arg) c.1061T>G (p.Met354Arg) n.1178T>G | |
13 | g.113118767T= | CA2120142649 | F7 | c.1094T= (p.Met365=) c.1160T= (p.Met387=) c.908T= (p.Met303=) n.1181T= c.953T= (p.Met318=) c.1202T= (p.Met401=) c.1016T= (p.Met339=) c.854T= (p.Met285=) c.1163T= (p.Met388=) c.998T= (p.Met333=) c.1247T= (p.Met416=) c.1061T= (p.Met354=) n.1178T= | |
13 | g.113118768G>A | CA388786509 | F7 | c.1095G>A (p.Met365Ile) c.1161G>A (p.Met387Ile) c.909G>A (p.Met303Ile) n.1182G>A c.954G>A (p.Met318Ile) c.1203G>A (p.Met401Ile) c.1017G>A (p.Met339Ile) c.855G>A (p.Met285Ile) c.1164G>A (p.Met388Ile) c.999G>A (p.Met333Ile) c.1248G>A (p.Met416Ile) c.1062G>A (p.Met354Ile) n.1179G>A | |
13 | g.113118768G>C | CA388786511 | F7 | c.1095G>C (p.Met365Ile) c.1161G>C (p.Met387Ile) c.909G>C (p.Met303Ile) n.1182G>C c.954G>C (p.Met318Ile) c.1203G>C (p.Met401Ile) c.1017G>C (p.Met339Ile) c.855G>C (p.Met285Ile) c.1164G>C (p.Met388Ile) c.999G>C (p.Met333Ile) c.1248G>C (p.Met416Ile) c.1062G>C (p.Met354Ile) n.1179G>C | |
13 | g.113118768G= | CA2120142655 | F7 | c.1095G= (p.Met365=) c.1161G= (p.Met387=) c.909G= (p.Met303=) n.1182G= c.954G= (p.Met318=) c.1203G= (p.Met401=) c.1017G= (p.Met339=) c.855G= (p.Met285=) c.1164G= (p.Met388=) c.999G= (p.Met333=) c.1248G= (p.Met416=) c.1062G= (p.Met354=) n.1179G= | |
13 | g.113118768G>T | CA388786512 | F7 | c.1095G>T (p.Met365Ile) c.1161G>T (p.Met387Ile) c.909G>T (p.Met303Ile) n.1182G>T c.954G>T (p.Met318Ile) c.1203G>T (p.Met401Ile) c.1017G>T (p.Met339Ile) c.855G>T (p.Met285Ile) c.1164G>T (p.Met388Ile) c.999G>T (p.Met333Ile) c.1248G>T (p.Met416Ile) c.1062G>T (p.Met354Ile) n.1179G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118769T>A | CA388786515 | F7 | c.1096T>A (p.Phe366Ile) c.1162T>A (p.Phe388Ile) c.910T>A (p.Phe304Ile) n.1183T>A c.955T>A (p.Phe319Ile) c.1204T>A (p.Phe402Ile) c.1018T>A (p.Phe340Ile) c.856T>A (p.Phe286Ile) c.1165T>A (p.Phe389Ile) c.1000T>A (p.Phe334Ile) c.1249T>A (p.Phe417Ile) c.1063T>A (p.Phe355Ile) n.1180T>A | gnomAD v4 |
13 | g.113118769T>C | CA388786519 | F7 | c.1096T>C (p.Phe366Leu) c.1162T>C (p.Phe388Leu) c.910T>C (p.Phe304Leu) n.1183T>C c.955T>C (p.Phe319Leu) c.1204T>C (p.Phe402Leu) c.1018T>C (p.Phe340Leu) c.856T>C (p.Phe286Leu) c.1165T>C (p.Phe389Leu) c.1000T>C (p.Phe334Leu) c.1249T>C (p.Phe417Leu) c.1063T>C (p.Phe355Leu) n.1180T>C | |
13 | g.113118769T>G | CA388786517 | F7 | c.1096T>G (p.Phe366Val) c.1162T>G (p.Phe388Val) c.910T>G (p.Phe304Val) n.1183T>G c.955T>G (p.Phe319Val) c.1204T>G (p.Phe402Val) c.1018T>G (p.Phe340Val) c.856T>G (p.Phe286Val) c.1165T>G (p.Phe389Val) c.1000T>G (p.Phe334Val) c.1249T>G (p.Phe417Val) c.1063T>G (p.Phe355Val) n.1180T>G | |
13 | g.113118770T>A | CA388786521 | F7 | c.1097T>A (p.Phe366Tyr) c.1163T>A (p.Phe388Tyr) c.911T>A (p.Phe304Tyr) n.1184T>A c.956T>A (p.Phe319Tyr) c.1205T>A (p.Phe402Tyr) c.1019T>A (p.Phe340Tyr) c.857T>A (p.Phe286Tyr) c.1166T>A (p.Phe389Tyr) c.1001T>A (p.Phe334Tyr) c.1250T>A (p.Phe417Tyr) c.1064T>A (p.Phe355Tyr) n.1181T>A | |
13 | g.113118770T>C | CA7060233 | F7 | c.1097T>C (p.Phe366Ser) c.1163T>C (p.Phe388Ser) c.911T>C (p.Phe304Ser) n.1184T>C c.956T>C (p.Phe319Ser) c.1205T>C (p.Phe402Ser) c.1019T>C (p.Phe340Ser) c.857T>C (p.Phe286Ser) c.1166T>C (p.Phe389Ser) c.1001T>C (p.Phe334Ser) c.1250T>C (p.Phe417Ser) c.1064T>C (p.Phe355Ser) n.1181T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118770T>G | CA256461792 | F7 | c.1097T>G (p.Phe366Cys) c.1163T>G (p.Phe388Cys) c.911T>G (p.Phe304Cys) n.1184T>G c.956T>G (p.Phe319Cys) c.1205T>G (p.Phe402Cys) c.1019T>G (p.Phe340Cys) c.857T>G (p.Phe286Cys) c.1166T>G (p.Phe389Cys) c.1001T>G (p.Phe334Cys) c.1250T>G (p.Phe417Cys) c.1064T>G (p.Phe355Cys) n.1181T>G | dbSNP |
13 | g.113118770T= | CA2120142657 | F7 | c.1097T= (p.Phe366=) c.1163T= (p.Phe388=) c.911T= (p.Phe304=) n.1184T= c.956T= (p.Phe319=) c.1205T= (p.Phe402=) c.1019T= (p.Phe340=) c.857T= (p.Phe286=) c.1166T= (p.Phe389=) c.1001T= (p.Phe334=) c.1250T= (p.Phe417=) c.1064T= (p.Phe355=) n.1181T= | |
13 | g.113118771C>A | CA388786525 | F7 | c.1098C>A (p.Phe366Leu) c.1164C>A (p.Phe388Leu) c.912C>A (p.Phe304Leu) n.1185C>A c.957C>A (p.Phe319Leu) c.1206C>A (p.Phe402Leu) c.1020C>A (p.Phe340Leu) c.858C>A (p.Phe286Leu) c.1167C>A (p.Phe389Leu) c.1002C>A (p.Phe334Leu) c.1251C>A (p.Phe417Leu) c.1065C>A (p.Phe355Leu) n.1182C>A | |
13 | g.113118771C>G | CA388786526 | F7 | c.1098C>G (p.Phe366Leu) c.1164C>G (p.Phe388Leu) c.912C>G (p.Phe304Leu) n.1185C>G c.957C>G (p.Phe319Leu) c.1206C>G (p.Phe402Leu) c.1020C>G (p.Phe340Leu) c.858C>G (p.Phe286Leu) c.1167C>G (p.Phe389Leu) c.1002C>G (p.Phe334Leu) c.1251C>G (p.Phe417Leu) c.1065C>G (p.Phe355Leu) n.1182C>G | |
13 | g.113118771C>T | CA485424040 | F7 | c.1098C>T (p.Phe366=) c.1164C>T (p.Phe388=) c.912C>T (p.Phe304=) n.1185C>T c.957C>T (p.Phe319=) c.1206C>T (p.Phe402=) c.1020C>T (p.Phe340=) c.858C>T (p.Phe286=) c.1167C>T (p.Phe389=) c.1002C>T (p.Phe334=) c.1251C>T (p.Phe417=) c.1065C>T (p.Phe355=) n.1182C>T | |
13 | g.113118772T>A | CA388786529 | F7 | c.1099T>A (p.Cys367Ser) c.1165T>A (p.Cys389Ser) c.913T>A (p.Cys305Ser) n.1186T>A c.958T>A (p.Cys320Ser) c.1207T>A (p.Cys403Ser) c.1021T>A (p.Cys341Ser) c.859T>A (p.Cys287Ser) c.1168T>A (p.Cys390Ser) c.1003T>A (p.Cys335Ser) c.1252T>A (p.Cys418Ser) c.1066T>A (p.Cys356Ser) n.1183T>A | |
13 | g.113118772T>C | CA7060234 | F7 | c.1099T>C (p.Cys367Arg) c.1165T>C (p.Cys389Arg) c.913T>C (p.Cys305Arg) n.1186T>C c.958T>C (p.Cys320Arg) c.1207T>C (p.Cys403Arg) c.1021T>C (p.Cys341Arg) c.859T>C (p.Cys287Arg) c.1168T>C (p.Cys390Arg) c.1003T>C (p.Cys335Arg) c.1252T>C (p.Cys418Arg) c.1066T>C (p.Cys356Arg) n.1183T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118772T>G | CA121860 | F7 | c.1099T>G (p.Cys367Gly) c.1165T>G (p.Cys389Gly) c.913T>G (p.Cys305Gly) n.1186T>G c.958T>G (p.Cys320Gly) c.1207T>G (p.Cys403Gly) c.1021T>G (p.Cys341Gly) c.859T>G (p.Cys287Gly) c.1168T>G (p.Cys390Gly) c.1003T>G (p.Cys335Gly) c.1252T>G (p.Cys418Gly) c.1066T>G (p.Cys356Gly) n.1183T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118772T= | CA2120142664 | F7 | c.1099T= (p.Cys367=) c.1165T= (p.Cys389=) c.913T= (p.Cys305=) n.1186T= c.958T= (p.Cys320=) c.1207T= (p.Cys403=) c.1021T= (p.Cys341=) c.859T= (p.Cys287=) c.1168T= (p.Cys390=) c.1003T= (p.Cys335=) c.1252T= (p.Cys418=) c.1066T= (p.Cys356=) n.1183T= | |
13 | g.113118773G>A | CA388786534 | F7 | c.1100G>A (p.Cys367Tyr) c.1166G>A (p.Cys389Tyr) c.914G>A (p.Cys305Tyr) n.1187G>A c.959G>A (p.Cys320Tyr) c.1208G>A (p.Cys403Tyr) c.1022G>A (p.Cys341Tyr) c.860G>A (p.Cys287Tyr) c.1169G>A (p.Cys390Tyr) c.1004G>A (p.Cys335Tyr) c.1253G>A (p.Cys418Tyr) c.1067G>A (p.Cys356Tyr) n.1184G>A | gnomAD v4 |
13 | g.113118773G>C | CA388786532 | F7 | c.1100G>C (p.Cys367Ser) c.1166G>C (p.Cys389Ser) c.914G>C (p.Cys305Ser) n.1187G>C c.959G>C (p.Cys320Ser) c.1208G>C (p.Cys403Ser) c.1022G>C (p.Cys341Ser) c.860G>C (p.Cys287Ser) c.1169G>C (p.Cys390Ser) c.1004G>C (p.Cys335Ser) c.1253G>C (p.Cys418Ser) c.1067G>C (p.Cys356Ser) n.1184G>C | gnomAD v4 |
13 | g.113118773G>T | CA388786536 | F7 | c.1100G>T (p.Cys367Phe) c.1166G>T (p.Cys389Phe) c.914G>T (p.Cys305Phe) n.1187G>T c.959G>T (p.Cys320Phe) c.1208G>T (p.Cys403Phe) c.1022G>T (p.Cys341Phe) c.860G>T (p.Cys287Phe) c.1169G>T (p.Cys390Phe) c.1004G>T (p.Cys335Phe) c.1253G>T (p.Cys418Phe) c.1067G>T (p.Cys356Phe) n.1184G>T | gnomAD v4 |
13 | g.113118774T>A | CA388786538 | F7 | c.1101T>A (p.Cys367Ter) c.1167T>A (p.Cys389Ter) c.915T>A (p.Cys305Ter) n.1188T>A c.960T>A (p.Cys320Ter) c.1209T>A (p.Cys403Ter) c.1023T>A (p.Cys341Ter) c.861T>A (p.Cys287Ter) c.1170T>A (p.Cys390Ter) c.1005T>A (p.Cys335Ter) c.1254T>A (p.Cys418Ter) c.1068T>A (p.Cys356Ter) n.1185T>A | |
13 | g.113118774T>C | CA485424041 | F7 | c.1101T>C (p.Cys367=) c.1167T>C (p.Cys389=) c.915T>C (p.Cys305=) n.1188T>C c.960T>C (p.Cys320=) c.1209T>C (p.Cys403=) c.1023T>C (p.Cys341=) c.861T>C (p.Cys287=) c.1170T>C (p.Cys390=) c.1005T>C (p.Cys335=) c.1254T>C (p.Cys418=) c.1068T>C (p.Cys356=) n.1185T>C | gnomAD v4 |
13 | g.113118774T>G | CA388786539 | F7 | c.1101T>G (p.Cys367Trp) c.1167T>G (p.Cys389Trp) c.915T>G (p.Cys305Trp) n.1188T>G c.960T>G (p.Cys320Trp) c.1209T>G (p.Cys403Trp) c.1023T>G (p.Cys341Trp) c.861T>G (p.Cys287Trp) c.1170T>G (p.Cys390Trp) c.1005T>G (p.Cys335Trp) c.1254T>G (p.Cys418Trp) c.1068T>G (p.Cys356Trp) n.1185T>G | |
13 | g.113118775G>A | CA388786542 | F7 | c.1102G>A (p.Ala368Thr) c.1168G>A (p.Ala390Thr) c.916G>A (p.Ala306Thr) n.1189G>A c.961G>A (p.Ala321Thr) c.1210G>A (p.Ala404Thr) c.1024G>A (p.Ala342Thr) c.862G>A (p.Ala288Thr) c.1171G>A (p.Ala391Thr) c.1006G>A (p.Ala336Thr) c.1255G>A (p.Ala419Thr) c.1069G>A (p.Ala357Thr) n.1186G>A | COSMIC |
13 | g.113118775G>C | CA388786543 | F7 | c.1102G>C (p.Ala368Pro) c.1168G>C (p.Ala390Pro) c.916G>C (p.Ala306Pro) n.1189G>C c.961G>C (p.Ala321Pro) c.1210G>C (p.Ala404Pro) c.1024G>C (p.Ala342Pro) c.862G>C (p.Ala288Pro) c.1171G>C (p.Ala391Pro) c.1006G>C (p.Ala336Pro) c.1255G>C (p.Ala419Pro) c.1069G>C (p.Ala357Pro) n.1186G>C | |
13 | g.113118775G>T | CA388786545 | F7 | c.1102G>T (p.Ala368Ser) c.1168G>T (p.Ala390Ser) c.916G>T (p.Ala306Ser) n.1189G>T c.961G>T (p.Ala321Ser) c.1210G>T (p.Ala404Ser) c.1024G>T (p.Ala342Ser) c.862G>T (p.Ala288Ser) c.1171G>T (p.Ala391Ser) c.1006G>T (p.Ala336Ser) c.1255G>T (p.Ala419Ser) c.1069G>T (p.Ala357Ser) n.1186G>T | |
13 | g.113118776C>A | CA388786547 | F7 | c.1103C>A (p.Ala368Asp) c.1169C>A (p.Ala390Asp) c.917C>A (p.Ala306Asp) n.1190C>A c.962C>A (p.Ala321Asp) c.1211C>A (p.Ala404Asp) c.1025C>A (p.Ala342Asp) c.863C>A (p.Ala288Asp) c.1172C>A (p.Ala391Asp) c.1007C>A (p.Ala336Asp) c.1256C>A (p.Ala419Asp) c.1070C>A (p.Ala357Asp) n.1187C>A | |
13 | g.113118776C>G | CA388786549 | F7 | c.1103C>G (p.Ala368Gly) c.1169C>G (p.Ala390Gly) c.917C>G (p.Ala306Gly) n.1190C>G c.962C>G (p.Ala321Gly) c.1211C>G (p.Ala404Gly) c.1025C>G (p.Ala342Gly) c.863C>G (p.Ala288Gly) c.1172C>G (p.Ala391Gly) c.1007C>G (p.Ala336Gly) c.1256C>G (p.Ala419Gly) c.1070C>G (p.Ala357Gly) n.1187C>G | |
13 | g.113118776C>T | CA388786550 | F7 | c.1103C>T (p.Ala368Val) c.1169C>T (p.Ala390Val) c.917C>T (p.Ala306Val) n.1190C>T c.962C>T (p.Ala321Val) c.1211C>T (p.Ala404Val) c.1025C>T (p.Ala342Val) c.863C>T (p.Ala288Val) c.1172C>T (p.Ala391Val) c.1007C>T (p.Ala336Val) c.1256C>T (p.Ala419Val) c.1070C>T (p.Ala357Val) n.1187C>T | |
13 | g.113118777C>A | CA485424042 | F7 | c.1104C>A (p.Ala368=) c.1170C>A (p.Ala390=) c.918C>A (p.Ala306=) n.1191C>A c.963C>A (p.Ala321=) c.1212C>A (p.Ala404=) c.1026C>A (p.Ala342=) c.864C>A (p.Ala288=) c.1173C>A (p.Ala391=) c.1008C>A (p.Ala336=) c.1257C>A (p.Ala419=) c.1071C>A (p.Ala357=) n.1188C>A | |
13 | g.113118777C= | CA2018007885 | F7 | c.1104C= (p.Ala368=) c.1170C= (p.Ala390=) c.918C= (p.Ala306=) n.1191C= c.963C= (p.Ala321=) c.1212C= (p.Ala404=) c.1026C= (p.Ala342=) c.864C= (p.Ala288=) c.1173C= (p.Ala391=) c.1008C= (p.Ala336=) c.1257C= (p.Ala419=) c.1071C= (p.Ala357=) n.1188C= | |
13 | g.113118777C>G | CA485424043 | F7 | c.1104C>G (p.Ala368=) c.1170C>G (p.Ala390=) c.918C>G (p.Ala306=) n.1191C>G c.963C>G (p.Ala321=) c.1212C>G (p.Ala404=) c.1026C>G (p.Ala342=) c.864C>G (p.Ala288=) c.1173C>G (p.Ala391=) c.1008C>G (p.Ala336=) c.1257C>G (p.Ala419=) c.1071C>G (p.Ala357=) n.1188C>G | |
13 | g.113118777C>T | CA7060235 | F7 | c.1104C>T (p.Ala368=) c.1170C>T (p.Ala390=) c.918C>T (p.Ala306=) n.1191C>T c.963C>T (p.Ala321=) c.1212C>T (p.Ala404=) c.1026C>T (p.Ala342=) c.864C>T (p.Ala288=) c.1173C>T (p.Ala391=) c.1008C>T (p.Ala336=) c.1257C>T (p.Ala419=) c.1071C>T (p.Ala357=) n.1188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118778G>A | CA7060236 | F7 | c.1105G>A (p.Gly369Ser) c.1171G>A (p.Gly391Ser) c.919G>A (p.Gly307Ser) n.1192G>A c.964G>A (p.Gly322Ser) c.1213G>A (p.Gly405Ser) c.1027G>A (p.Gly343Ser) c.865G>A (p.Gly289Ser) c.1174G>A (p.Gly392Ser) c.1009G>A (p.Gly337Ser) c.1258G>A (p.Gly420Ser) c.1072G>A (p.Gly358Ser) n.1189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118778G>C | CA388786555 | F7 | c.1105G>C (p.Gly369Arg) c.1171G>C (p.Gly391Arg) c.919G>C (p.Gly307Arg) n.1192G>C c.964G>C (p.Gly322Arg) c.1213G>C (p.Gly405Arg) c.1027G>C (p.Gly343Arg) c.865G>C (p.Gly289Arg) c.1174G>C (p.Gly392Arg) c.1009G>C (p.Gly337Arg) c.1258G>C (p.Gly420Arg) c.1072G>C (p.Gly358Arg) n.1189G>C | |
13 | g.113118778G= | CA2120142680 | F7 | c.1105G= (p.Gly369=) c.1171G= (p.Gly391=) c.919G= (p.Gly307=) n.1192G= c.964G= (p.Gly322=) c.1213G= (p.Gly405=) c.1027G= (p.Gly343=) c.865G= (p.Gly289=) c.1174G= (p.Gly392=) c.1009G= (p.Gly337=) c.1258G= (p.Gly420=) c.1072G= (p.Gly358=) n.1189G= | |
13 | g.113118778G>T | CA388786557 | F7 | c.1105G>T (p.Gly369Cys) c.1171G>T (p.Gly391Cys) c.919G>T (p.Gly307Cys) n.1192G>T c.964G>T (p.Gly322Cys) c.1213G>T (p.Gly405Cys) c.1027G>T (p.Gly343Cys) c.865G>T (p.Gly289Cys) c.1174G>T (p.Gly392Cys) c.1009G>T (p.Gly337Cys) c.1258G>T (p.Gly420Cys) c.1072G>T (p.Gly358Cys) n.1189G>T | |
13 | g.113118779G>A | CA388786562 | F7 | c.1106G>A (p.Gly369Asp) c.1172G>A (p.Gly391Asp) c.920G>A (p.Gly307Asp) n.1193G>A c.965G>A (p.Gly322Asp) c.1214G>A (p.Gly405Asp) c.1028G>A (p.Gly343Asp) c.866G>A (p.Gly289Asp) c.1175G>A (p.Gly392Asp) c.1010G>A (p.Gly337Asp) c.1259G>A (p.Gly420Asp) c.1073G>A (p.Gly358Asp) n.1190G>A | COSMIC COSMIC |
13 | g.113118779G>C | CA388786563 | F7 | c.1106G>C (p.Gly369Ala) c.1172G>C (p.Gly391Ala) c.920G>C (p.Gly307Ala) n.1193G>C c.965G>C (p.Gly322Ala) c.1214G>C (p.Gly405Ala) c.1028G>C (p.Gly343Ala) c.866G>C (p.Gly289Ala) c.1175G>C (p.Gly392Ala) c.1010G>C (p.Gly337Ala) c.1259G>C (p.Gly420Ala) c.1073G>C (p.Gly358Ala) n.1190G>C | |
13 | g.113118779G>T | CA388786560 | F7 | c.1106G>T (p.Gly369Val) c.1172G>T (p.Gly391Val) c.920G>T (p.Gly307Val) n.1193G>T c.965G>T (p.Gly322Val) c.1214G>T (p.Gly405Val) c.1028G>T (p.Gly343Val) c.866G>T (p.Gly289Val) c.1175G>T (p.Gly392Val) c.1010G>T (p.Gly337Val) c.1259G>T (p.Gly420Val) c.1073G>T (p.Gly358Val) n.1190G>T | |
13 | g.113118780C>A | CA485424044 | F7 | c.1107C>A (p.Gly369=) c.1173C>A (p.Gly391=) c.921C>A (p.Gly307=) n.1194C>A c.966C>A (p.Gly322=) c.1215C>A (p.Gly405=) c.1029C>A (p.Gly343=) c.867C>A (p.Gly289=) c.1176C>A (p.Gly392=) c.1011C>A (p.Gly337=) c.1260C>A (p.Gly420=) c.1074C>A (p.Gly358=) n.1191C>A | |
13 | g.113118780C>G | CA485424046 | F7 | c.1107C>G (p.Gly369=) c.1173C>G (p.Gly391=) c.921C>G (p.Gly307=) n.1194C>G c.966C>G (p.Gly322=) c.1215C>G (p.Gly405=) c.1029C>G (p.Gly343=) c.867C>G (p.Gly289=) c.1176C>G (p.Gly392=) c.1011C>G (p.Gly337=) c.1260C>G (p.Gly420=) c.1074C>G (p.Gly358=) n.1191C>G | |
13 | g.113118780C>T | CA485424045 | F7 | c.1107C>T (p.Gly369=) c.1173C>T (p.Gly391=) c.921C>T (p.Gly307=) n.1194C>T c.966C>T (p.Gly322=) c.1215C>T (p.Gly405=) c.1029C>T (p.Gly343=) c.867C>T (p.Gly289=) c.1176C>T (p.Gly392=) c.1011C>T (p.Gly337=) c.1260C>T (p.Gly420=) c.1074C>T (p.Gly358=) n.1191C>T | |
13 | g.113118781T>A | CA388786567 | F7 | c.1108T>A (p.Tyr370Asn) c.1174T>A (p.Tyr392Asn) c.922T>A (p.Tyr308Asn) n.1195T>A c.967T>A (p.Tyr323Asn) c.1216T>A (p.Tyr406Asn) c.1030T>A (p.Tyr344Asn) c.868T>A (p.Tyr290Asn) c.1177T>A (p.Tyr393Asn) c.1012T>A (p.Tyr338Asn) c.1261T>A (p.Tyr421Asn) c.1075T>A (p.Tyr359Asn) n.1192T>A | |
13 | g.113118781T>C | CA388786568 | F7 | c.1108T>C (p.Tyr370His) c.1174T>C (p.Tyr392His) c.922T>C (p.Tyr308His) n.1195T>C c.967T>C (p.Tyr323His) c.1216T>C (p.Tyr406His) c.1030T>C (p.Tyr344His) c.868T>C (p.Tyr290His) c.1177T>C (p.Tyr393His) c.1012T>C (p.Tyr338His) c.1261T>C (p.Tyr421His) c.1075T>C (p.Tyr359His) n.1192T>C | |
13 | g.113118781T>G | CA388786570 | F7 | c.1108T>G (p.Tyr370Asp) c.1174T>G (p.Tyr392Asp) c.922T>G (p.Tyr308Asp) n.1195T>G c.967T>G (p.Tyr323Asp) c.1216T>G (p.Tyr406Asp) c.1030T>G (p.Tyr344Asp) c.868T>G (p.Tyr290Asp) c.1177T>G (p.Tyr393Asp) c.1012T>G (p.Tyr338Asp) c.1261T>G (p.Tyr421Asp) c.1075T>G (p.Tyr359Asp) n.1192T>G | |
13 | g.113118782A>C | CA388786573 | F7 | c.1109A>C (p.Tyr370Ser) c.1175A>C (p.Tyr392Ser) c.923A>C (p.Tyr308Ser) n.1196A>C c.968A>C (p.Tyr323Ser) c.1217A>C (p.Tyr406Ser) c.1031A>C (p.Tyr344Ser) c.869A>C (p.Tyr290Ser) c.1178A>C (p.Tyr393Ser) c.1013A>C (p.Tyr338Ser) c.1262A>C (p.Tyr421Ser) c.1076A>C (p.Tyr359Ser) n.1193A>C | |
13 | g.113118782A>G | CA388786574 | F7 | c.1109A>G (p.Tyr370Cys) c.1175A>G (p.Tyr392Cys) c.923A>G (p.Tyr308Cys) n.1196A>G c.968A>G (p.Tyr323Cys) c.1217A>G (p.Tyr406Cys) c.1031A>G (p.Tyr344Cys) c.869A>G (p.Tyr290Cys) c.1178A>G (p.Tyr393Cys) c.1013A>G (p.Tyr338Cys) c.1262A>G (p.Tyr421Cys) c.1076A>G (p.Tyr359Cys) n.1193A>G | gnomAD v4 |
13 | g.113118782A>T | CA388786577 | F7 | c.1109A>T (p.Tyr370Phe) c.1175A>T (p.Tyr392Phe) c.923A>T (p.Tyr308Phe) n.1196A>T c.968A>T (p.Tyr323Phe) c.1217A>T (p.Tyr406Phe) c.1031A>T (p.Tyr344Phe) c.869A>T (p.Tyr290Phe) c.1178A>T (p.Tyr393Phe) c.1013A>T (p.Tyr338Phe) c.1262A>T (p.Tyr421Phe) c.1076A>T (p.Tyr359Phe) n.1193A>T | |
13 | g.113118783C>A | CA388786579 | F7 | c.1110C>A (p.Tyr370Ter) c.1176C>A (p.Tyr392Ter) c.924C>A (p.Tyr308Ter) n.1197C>A c.969C>A (p.Tyr323Ter) c.1218C>A (p.Tyr406Ter) c.1032C>A (p.Tyr344Ter) c.870C>A (p.Tyr290Ter) c.1179C>A (p.Tyr393Ter) c.1014C>A (p.Tyr338Ter) c.1263C>A (p.Tyr421Ter) c.1077C>A (p.Tyr359Ter) n.1194C>A | |
13 | g.113118783C>G | CA388786581 | F7 | c.1110C>G (p.Tyr370Ter) c.1176C>G (p.Tyr392Ter) c.924C>G (p.Tyr308Ter) n.1197C>G c.969C>G (p.Tyr323Ter) c.1218C>G (p.Tyr406Ter) c.1032C>G (p.Tyr344Ter) c.870C>G (p.Tyr290Ter) c.1179C>G (p.Tyr393Ter) c.1014C>G (p.Tyr338Ter) c.1263C>G (p.Tyr421Ter) c.1077C>G (p.Tyr359Ter) n.1194C>G | |
13 | g.113118783C>T | CA485424047 | F7 | c.1110C>T (p.Tyr370=) c.1176C>T (p.Tyr392=) c.924C>T (p.Tyr308=) n.1197C>T c.969C>T (p.Tyr323=) c.1218C>T (p.Tyr406=) c.1032C>T (p.Tyr344=) c.870C>T (p.Tyr290=) c.1179C>T (p.Tyr393=) c.1014C>T (p.Tyr338=) c.1263C>T (p.Tyr421=) c.1077C>T (p.Tyr359=) n.1194C>T | |
13 | g.113118784T>A | CA388786584 | F7 | c.1111T>A (p.Ser371Thr) c.1177T>A (p.Ser393Thr) c.925T>A (p.Ser309Thr) n.1198T>A c.970T>A (p.Ser324Thr) c.1219T>A (p.Ser407Thr) c.1033T>A (p.Ser345Thr) c.871T>A (p.Ser291Thr) c.1180T>A (p.Ser394Thr) c.1015T>A (p.Ser339Thr) c.1264T>A (p.Ser422Thr) c.1078T>A (p.Ser360Thr) n.1195T>A | |
13 | g.113118784T>C | CA388786585 | F7 | c.1111T>C (p.Ser371Pro) c.1177T>C (p.Ser393Pro) c.925T>C (p.Ser309Pro) n.1198T>C c.970T>C (p.Ser324Pro) c.1219T>C (p.Ser407Pro) c.1033T>C (p.Ser345Pro) c.871T>C (p.Ser291Pro) c.1180T>C (p.Ser394Pro) c.1015T>C (p.Ser339Pro) c.1264T>C (p.Ser422Pro) c.1078T>C (p.Ser360Pro) n.1195T>C | |
13 | g.113118784T>G | CA388786587 | F7 | c.1111T>G (p.Ser371Ala) c.1177T>G (p.Ser393Ala) c.925T>G (p.Ser309Ala) n.1198T>G c.970T>G (p.Ser324Ala) c.1219T>G (p.Ser407Ala) c.1033T>G (p.Ser345Ala) c.871T>G (p.Ser291Ala) c.1180T>G (p.Ser394Ala) c.1015T>G (p.Ser339Ala) c.1264T>G (p.Ser422Ala) c.1078T>G (p.Ser360Ala) n.1195T>G | |
13 | g.113118785C>A | CA388786589 | F7 | c.1112C>A (p.Ser371Ter) c.1178C>A (p.Ser393Ter) c.926C>A (p.Ser309Ter) n.1199C>A c.971C>A (p.Ser324Ter) c.1220C>A (p.Ser407Ter) c.1034C>A (p.Ser345Ter) c.872C>A (p.Ser291Ter) c.1181C>A (p.Ser394Ter) c.1016C>A (p.Ser339Ter) c.1265C>A (p.Ser422Ter) c.1079C>A (p.Ser360Ter) n.1196C>A | |
13 | g.113118785C= | CA2120142685 | F7 | c.1112C= (p.Ser371=) c.1178C= (p.Ser393=) c.926C= (p.Ser309=) n.1199C= c.971C= (p.Ser324=) c.1220C= (p.Ser407=) c.1034C= (p.Ser345=) c.872C= (p.Ser291=) c.1181C= (p.Ser394=) c.1016C= (p.Ser339=) c.1265C= (p.Ser422=) c.1079C= (p.Ser360=) n.1196C= | |
13 | g.113118785C>G | CA388786591 | F7 | c.1112C>G (p.Ser371Trp) c.1178C>G (p.Ser393Trp) c.926C>G (p.Ser309Trp) n.1199C>G c.971C>G (p.Ser324Trp) c.1220C>G (p.Ser407Trp) c.1034C>G (p.Ser345Trp) c.872C>G (p.Ser291Trp) c.1181C>G (p.Ser394Trp) c.1016C>G (p.Ser339Trp) c.1265C>G (p.Ser422Trp) c.1079C>G (p.Ser360Trp) n.1196C>G | |
13 | g.113118785C>T | CA7060237 | F7 | c.1112C>T (p.Ser371Leu) c.1178C>T (p.Ser393Leu) c.926C>T (p.Ser309Leu) n.1199C>T c.971C>T (p.Ser324Leu) c.1220C>T (p.Ser407Leu) c.1034C>T (p.Ser345Leu) c.872C>T (p.Ser291Leu) c.1181C>T (p.Ser394Leu) c.1016C>T (p.Ser339Leu) c.1265C>T (p.Ser422Leu) c.1079C>T (p.Ser360Leu) n.1196C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118786G>A | CA7060238 | F7 | c.1113G>A (p.Ser371=) c.1179G>A (p.Ser393=) c.927G>A (p.Ser309=) n.1200G>A c.972G>A (p.Ser324=) c.1221G>A (p.Ser407=) c.1035G>A (p.Ser345=) c.873G>A (p.Ser291=) c.1182G>A (p.Ser394=) c.1017G>A (p.Ser339=) c.1266G>A (p.Ser422=) c.1080G>A (p.Ser360=) n.1197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118786G>C | CA485424048 | F7 | c.1113G>C (p.Ser371=) c.1179G>C (p.Ser393=) c.927G>C (p.Ser309=) n.1200G>C c.972G>C (p.Ser324=) c.1221G>C (p.Ser407=) c.1035G>C (p.Ser345=) c.873G>C (p.Ser291=) c.1182G>C (p.Ser394=) c.1017G>C (p.Ser339=) c.1266G>C (p.Ser422=) c.1080G>C (p.Ser360=) n.1197G>C | |
13 | g.113118786G= | CA2120142693 | F7 | c.1113G= (p.Ser371=) c.1179G= (p.Ser393=) c.927G= (p.Ser309=) n.1200G= c.972G= (p.Ser324=) c.1221G= (p.Ser407=) c.1035G= (p.Ser345=) c.873G= (p.Ser291=) c.1182G= (p.Ser394=) c.1017G= (p.Ser339=) c.1266G= (p.Ser422=) c.1080G= (p.Ser360=) n.1197G= | |
13 | g.113118786G>T | CA485424049 | F7 | c.1113G>T (p.Ser371=) c.1179G>T (p.Ser393=) c.927G>T (p.Ser309=) n.1200G>T c.972G>T (p.Ser324=) c.1221G>T (p.Ser407=) c.1035G>T (p.Ser345=) c.873G>T (p.Ser291=) c.1182G>T (p.Ser394=) c.1017G>T (p.Ser339=) c.1266G>T (p.Ser422=) c.1080G>T (p.Ser360=) n.1197G>T | |
13 | g.113118787G>A | CA388786599 | F7 | c.1114G>A (p.Asp372Asn) c.1180G>A (p.Asp394Asn) c.928G>A (p.Asp310Asn) n.1201G>A c.973G>A (p.Asp325Asn) c.1222G>A (p.Asp408Asn) c.1036G>A (p.Asp346Asn) c.874G>A (p.Asp292Asn) c.1183G>A (p.Asp395Asn) c.1018G>A (p.Asp340Asn) c.1267G>A (p.Asp423Asn) c.1081G>A (p.Asp361Asn) n.1198G>A | |
13 | g.113118787G>C | CA388786596 | F7 | c.1114G>C (p.Asp372His) c.1180G>C (p.Asp394His) c.928G>C (p.Asp310His) n.1201G>C c.973G>C (p.Asp325His) c.1222G>C (p.Asp408His) c.1036G>C (p.Asp346His) c.874G>C (p.Asp292His) c.1183G>C (p.Asp395His) c.1018G>C (p.Asp340His) c.1267G>C (p.Asp423His) c.1081G>C (p.Asp361His) n.1198G>C | |
13 | g.113118787G= | CA2120142698 | F7 | c.1114G= (p.Asp372=) c.1180G= (p.Asp394=) c.928G= (p.Asp310=) n.1201G= c.973G= (p.Asp325=) c.1222G= (p.Asp408=) c.1036G= (p.Asp346=) c.874G= (p.Asp292=) c.1183G= (p.Asp395=) c.1018G= (p.Asp340=) c.1267G= (p.Asp423=) c.1081G= (p.Asp361=) n.1198G= | |
13 | g.113118787G>T | CA388786598 | F7 | c.1114G>T (p.Asp372Tyr) c.1180G>T (p.Asp394Tyr) c.928G>T (p.Asp310Tyr) n.1201G>T c.973G>T (p.Asp325Tyr) c.1222G>T (p.Asp408Tyr) c.1036G>T (p.Asp346Tyr) c.874G>T (p.Asp292Tyr) c.1183G>T (p.Asp395Tyr) c.1018G>T (p.Asp340Tyr) c.1267G>T (p.Asp423Tyr) c.1081G>T (p.Asp361Tyr) n.1198G>T | dbSNP |
13 | g.113118788A>C | CA388786601 | F7 | c.1115A>C (p.Asp372Ala) c.1181A>C (p.Asp394Ala) c.929A>C (p.Asp310Ala) n.1202A>C c.974A>C (p.Asp325Ala) c.1223A>C (p.Asp408Ala) c.1037A>C (p.Asp346Ala) c.875A>C (p.Asp292Ala) c.1184A>C (p.Asp395Ala) c.1019A>C (p.Asp340Ala) c.1268A>C (p.Asp423Ala) c.1082A>C (p.Asp361Ala) n.1199A>C | |
13 | g.113118788A>G | CA388786602 | F7 | c.1115A>G (p.Asp372Gly) c.1181A>G (p.Asp394Gly) c.929A>G (p.Asp310Gly) n.1202A>G c.974A>G (p.Asp325Gly) c.1223A>G (p.Asp408Gly) c.1037A>G (p.Asp346Gly) c.875A>G (p.Asp292Gly) c.1184A>G (p.Asp395Gly) c.1019A>G (p.Asp340Gly) c.1268A>G (p.Asp423Gly) c.1082A>G (p.Asp361Gly) n.1199A>G | gnomAD v4 |
13 | g.113118788A>T | CA388786604 | F7 | c.1115A>T (p.Asp372Val) c.1181A>T (p.Asp394Val) c.929A>T (p.Asp310Val) n.1202A>T c.974A>T (p.Asp325Val) c.1223A>T (p.Asp408Val) c.1037A>T (p.Asp346Val) c.875A>T (p.Asp292Val) c.1184A>T (p.Asp395Val) c.1019A>T (p.Asp340Val) c.1268A>T (p.Asp423Val) c.1082A>T (p.Asp361Val) n.1199A>T | |
13 | g.113118789T>A | CA388786606 | F7 | c.1116T>A (p.Asp372Glu) c.1182T>A (p.Asp394Glu) c.930T>A (p.Asp310Glu) n.1203T>A c.975T>A (p.Asp325Glu) c.1224T>A (p.Asp408Glu) c.1038T>A (p.Asp346Glu) c.876T>A (p.Asp292Glu) c.1185T>A (p.Asp395Glu) c.1020T>A (p.Asp340Glu) c.1269T>A (p.Asp423Glu) c.1083T>A (p.Asp361Glu) n.1200T>A | |
13 | g.113118789T>C | CA485021178 | F7 | c.1116T>C (p.Asp372=) c.1182T>C (p.Asp394=) c.930T>C (p.Asp310=) n.1203T>C c.975T>C (p.Asp325=) c.1224T>C (p.Asp408=) c.1038T>C (p.Asp346=) c.876T>C (p.Asp292=) c.1185T>C (p.Asp395=) c.1020T>C (p.Asp340=) c.1269T>C (p.Asp423=) c.1083T>C (p.Asp361=) n.1200T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118789T>G | CA388786607 | F7 | c.1116T>G (p.Asp372Glu) c.1182T>G (p.Asp394Glu) c.930T>G (p.Asp310Glu) n.1203T>G c.975T>G (p.Asp325Glu) c.1224T>G (p.Asp408Glu) c.1038T>G (p.Asp346Glu) c.876T>G (p.Asp292Glu) c.1185T>G (p.Asp395Glu) c.1020T>G (p.Asp340Glu) c.1269T>G (p.Asp423Glu) c.1083T>G (p.Asp361Glu) n.1200T>G | |
13 | g.113118789T= | CA2120142703 | F7 | c.1116T= (p.Asp372=) c.1182T= (p.Asp394=) c.930T= (p.Asp310=) n.1203T= c.975T= (p.Asp325=) c.1224T= (p.Asp408=) c.1038T= (p.Asp346=) c.876T= (p.Asp292=) c.1185T= (p.Asp395=) c.1020T= (p.Asp340=) c.1269T= (p.Asp423=) c.1083T= (p.Asp361=) n.1200T= | |
13 | g.113118790G>A | CA388786610 | F7 | c.1117G>A (p.Gly373Ser) c.1183G>A (p.Gly395Ser) c.931G>A (p.Gly311Ser) n.1204G>A c.976G>A (p.Gly326Ser) c.1225G>A (p.Gly409Ser) c.1039G>A (p.Gly347Ser) c.877G>A (p.Gly293Ser) c.1186G>A (p.Gly396Ser) c.1021G>A (p.Gly341Ser) c.1270G>A (p.Gly424Ser) c.1084G>A (p.Gly362Ser) n.1201G>A | |
13 | g.113118790G>C | CA388786612 | F7 | c.1117G>C (p.Gly373Arg) c.1183G>C (p.Gly395Arg) c.931G>C (p.Gly311Arg) n.1204G>C c.976G>C (p.Gly326Arg) c.1225G>C (p.Gly409Arg) c.1039G>C (p.Gly347Arg) c.877G>C (p.Gly293Arg) c.1186G>C (p.Gly396Arg) c.1021G>C (p.Gly341Arg) c.1270G>C (p.Gly424Arg) c.1084G>C (p.Gly362Arg) n.1201G>C | |
13 | g.113118790G>T | CA388786614 | F7 | c.1117G>T (p.Gly373Cys) c.1183G>T (p.Gly395Cys) c.931G>T (p.Gly311Cys) n.1204G>T c.976G>T (p.Gly326Cys) c.1225G>T (p.Gly409Cys) c.1039G>T (p.Gly347Cys) c.877G>T (p.Gly293Cys) c.1186G>T (p.Gly396Cys) c.1021G>T (p.Gly341Cys) c.1270G>T (p.Gly424Cys) c.1084G>T (p.Gly362Cys) n.1201G>T | |
13 | g.113118791G>A | CA388786616 | F7 | c.1118G>A (p.Gly373Asp) c.1184G>A (p.Gly395Asp) c.932G>A (p.Gly311Asp) n.1205G>A c.977G>A (p.Gly326Asp) c.1226G>A (p.Gly409Asp) c.1040G>A (p.Gly347Asp) c.878G>A (p.Gly293Asp) c.1187G>A (p.Gly396Asp) c.1022G>A (p.Gly341Asp) c.1271G>A (p.Gly424Asp) c.1085G>A (p.Gly362Asp) n.1202G>A | gnomAD v4 |
13 | g.113118791G>C | CA388786618 | F7 | c.1118G>C (p.Gly373Ala) c.1184G>C (p.Gly395Ala) c.932G>C (p.Gly311Ala) n.1205G>C c.977G>C (p.Gly326Ala) c.1226G>C (p.Gly409Ala) c.1040G>C (p.Gly347Ala) c.878G>C (p.Gly293Ala) c.1187G>C (p.Gly396Ala) c.1022G>C (p.Gly341Ala) c.1271G>C (p.Gly424Ala) c.1085G>C (p.Gly362Ala) n.1202G>C | |
13 | g.113118791G>T | CA388786620 | F7 | c.1118G>T (p.Gly373Val) c.1184G>T (p.Gly395Val) c.932G>T (p.Gly311Val) n.1205G>T c.977G>T (p.Gly326Val) c.1226G>T (p.Gly409Val) c.1040G>T (p.Gly347Val) c.878G>T (p.Gly293Val) c.1187G>T (p.Gly396Val) c.1022G>T (p.Gly341Val) c.1271G>T (p.Gly424Val) c.1085G>T (p.Gly362Val) n.1202G>T | |
13 | g.113118792C>A | CA485021179 | F7 | c.1119C>A (p.Gly373=) c.1185C>A (p.Gly395=) c.933C>A (p.Gly311=) n.1206C>A c.978C>A (p.Gly326=) c.1227C>A (p.Gly409=) c.1041C>A (p.Gly347=) c.879C>A (p.Gly293=) c.1188C>A (p.Gly396=) c.1023C>A (p.Gly341=) c.1272C>A (p.Gly424=) c.1086C>A (p.Gly362=) n.1203C>A | |
13 | g.113118792C>G | CA485021180 | F7 | c.1119C>G (p.Gly373=) c.1185C>G (p.Gly395=) c.933C>G (p.Gly311=) n.1206C>G c.978C>G (p.Gly326=) c.1227C>G (p.Gly409=) c.1041C>G (p.Gly347=) c.879C>G (p.Gly293=) c.1188C>G (p.Gly396=) c.1023C>G (p.Gly341=) c.1272C>G (p.Gly424=) c.1086C>G (p.Gly362=) n.1203C>G | |
13 | g.113118792C>T | CA485021181 | F7 | c.1119C>T (p.Gly373=) c.1185C>T (p.Gly395=) c.933C>T (p.Gly311=) n.1206C>T c.978C>T (p.Gly326=) c.1227C>T (p.Gly409=) c.1041C>T (p.Gly347=) c.879C>T (p.Gly293=) c.1188C>T (p.Gly396=) c.1023C>T (p.Gly341=) c.1272C>T (p.Gly424=) c.1086C>T (p.Gly362=) n.1203C>T | |
13 | g.113118793A>C | CA388786623 | F7 | c.1120A>C (p.Ser374Arg) c.1186A>C (p.Ser396Arg) c.934A>C (p.Ser312Arg) n.1207A>C c.979A>C (p.Ser327Arg) c.1228A>C (p.Ser410Arg) c.1042A>C (p.Ser348Arg) c.880A>C (p.Ser294Arg) c.1189A>C (p.Ser397Arg) c.1024A>C (p.Ser342Arg) c.1273A>C (p.Ser425Arg) c.1087A>C (p.Ser363Arg) n.1204A>C | |
13 | g.113118793A>G | CA388786625 | F7 | c.1120A>G (p.Ser374Gly) c.1186A>G (p.Ser396Gly) c.934A>G (p.Ser312Gly) n.1207A>G c.979A>G (p.Ser327Gly) c.1228A>G (p.Ser410Gly) c.1042A>G (p.Ser348Gly) c.880A>G (p.Ser294Gly) c.1189A>G (p.Ser397Gly) c.1024A>G (p.Ser342Gly) c.1273A>G (p.Ser425Gly) c.1087A>G (p.Ser363Gly) n.1204A>G | gnomAD v4 |
13 | g.113118793A>T | CA388786621 | F7 | c.1120A>T (p.Ser374Cys) c.1186A>T (p.Ser396Cys) c.934A>T (p.Ser312Cys) n.1207A>T c.979A>T (p.Ser327Cys) c.1228A>T (p.Ser410Cys) c.1042A>T (p.Ser348Cys) c.880A>T (p.Ser294Cys) c.1189A>T (p.Ser397Cys) c.1024A>T (p.Ser342Cys) c.1273A>T (p.Ser425Cys) c.1087A>T (p.Ser363Cys) n.1204A>T | |
13 | g.113118794G>A | CA388786627 | F7 | c.1121G>A (p.Ser374Asn) c.1187G>A (p.Ser396Asn) c.935G>A (p.Ser312Asn) n.1208G>A c.980G>A (p.Ser327Asn) c.1229G>A (p.Ser410Asn) c.1043G>A (p.Ser348Asn) c.881G>A (p.Ser294Asn) c.1190G>A (p.Ser397Asn) c.1025G>A (p.Ser342Asn) c.1274G>A (p.Ser425Asn) c.1088G>A (p.Ser363Asn) n.1205G>A | |
13 | g.113118794G>C | CA388786629 | F7 | c.1121G>C (p.Ser374Thr) c.1187G>C (p.Ser396Thr) c.935G>C (p.Ser312Thr) n.1208G>C c.980G>C (p.Ser327Thr) c.1229G>C (p.Ser410Thr) c.1043G>C (p.Ser348Thr) c.881G>C (p.Ser294Thr) c.1190G>C (p.Ser397Thr) c.1025G>C (p.Ser342Thr) c.1274G>C (p.Ser425Thr) c.1088G>C (p.Ser363Thr) n.1205G>C | |
13 | g.113118794G>T | CA388786631 | F7 | c.1121G>T (p.Ser374Ile) c.1187G>T (p.Ser396Ile) c.935G>T (p.Ser312Ile) n.1208G>T c.980G>T (p.Ser327Ile) c.1229G>T (p.Ser410Ile) c.1043G>T (p.Ser348Ile) c.881G>T (p.Ser294Ile) c.1190G>T (p.Ser397Ile) c.1025G>T (p.Ser342Ile) c.1274G>T (p.Ser425Ile) c.1088G>T (p.Ser363Ile) n.1205G>T | COSMIC COSMIC |
13 | g.113118795del | CA2800652057 | F7 | c.1122del (p.Ser374ArgfsTer23) c.1188del (p.Ser396ArgfsTer23) c.936del (p.Ser312ArgfsTer23) n.1209del c.981del (p.Ser327ArgfsTer23) c.1230del (p.Ser410ArgfsTer23) c.1044del (p.Ser348ArgfsTer23) c.882del (p.Ser294ArgfsTer23) c.1191del (p.Ser397ArgfsTer23) c.1026del (p.Ser342ArgfsTer23) c.1275del (p.Ser425ArgfsTer23) c.1089del (p.Ser363ArgfsTer23) n.1206del | |
13 | g.113118795C>A | CA388786633 | F7 | c.1122C>A (p.Ser374Arg) c.1188C>A (p.Ser396Arg) c.936C>A (p.Ser312Arg) n.1209C>A c.981C>A (p.Ser327Arg) c.1230C>A (p.Ser410Arg) c.1044C>A (p.Ser348Arg) c.882C>A (p.Ser294Arg) c.1191C>A (p.Ser397Arg) c.1026C>A (p.Ser342Arg) c.1275C>A (p.Ser425Arg) c.1089C>A (p.Ser363Arg) n.1206C>A | |
13 | g.113118795C>G | CA388786635 | F7 | c.1122C>G (p.Ser374Arg) c.1188C>G (p.Ser396Arg) c.936C>G (p.Ser312Arg) n.1209C>G c.981C>G (p.Ser327Arg) c.1230C>G (p.Ser410Arg) c.1044C>G (p.Ser348Arg) c.882C>G (p.Ser294Arg) c.1191C>G (p.Ser397Arg) c.1026C>G (p.Ser342Arg) c.1275C>G (p.Ser425Arg) c.1089C>G (p.Ser363Arg) n.1206C>G | |
13 | g.113118795C>T | CA485021182 | F7 | c.1122C>T (p.Ser374=) c.1188C>T (p.Ser396=) c.936C>T (p.Ser312=) n.1209C>T c.981C>T (p.Ser327=) c.1230C>T (p.Ser410=) c.1044C>T (p.Ser348=) c.882C>T (p.Ser294=) c.1191C>T (p.Ser397=) c.1026C>T (p.Ser342=) c.1275C>T (p.Ser425=) c.1089C>T (p.Ser363=) n.1206C>T | |
13 | g.113118796A>C | CA388786640 | F7 | c.1123A>C (p.Lys375Gln) c.1189A>C (p.Lys397Gln) c.937A>C (p.Lys313Gln) n.1210A>C c.982A>C (p.Lys328Gln) c.1231A>C (p.Lys411Gln) c.1045A>C (p.Lys349Gln) c.883A>C (p.Lys295Gln) c.1192A>C (p.Lys398Gln) c.1027A>C (p.Lys343Gln) c.1276A>C (p.Lys426Gln) c.1090A>C (p.Lys364Gln) n.1207A>C | |
13 | g.113118796A>G | CA388786637 | F7 | c.1123A>G (p.Lys375Glu) c.1189A>G (p.Lys397Glu) c.937A>G (p.Lys313Glu) n.1210A>G c.982A>G (p.Lys328Glu) c.1231A>G (p.Lys411Glu) c.1045A>G (p.Lys349Glu) c.883A>G (p.Lys295Glu) c.1192A>G (p.Lys398Glu) c.1027A>G (p.Lys343Glu) c.1276A>G (p.Lys426Glu) c.1090A>G (p.Lys364Glu) n.1207A>G | |
13 | g.113118796A>T | CA388786639 | F7 | c.1123A>T (p.Lys375Ter) c.1189A>T (p.Lys397Ter) c.937A>T (p.Lys313Ter) n.1210A>T c.982A>T (p.Lys328Ter) c.1231A>T (p.Lys411Ter) c.1045A>T (p.Lys349Ter) c.883A>T (p.Lys295Ter) c.1192A>T (p.Lys398Ter) c.1027A>T (p.Lys343Ter) c.1276A>T (p.Lys426Ter) c.1090A>T (p.Lys364Ter) n.1207A>T | |
13 | g.113118797A>C | CA388786644 | F7 | c.1124A>C (p.Lys375Thr) c.1190A>C (p.Lys397Thr) c.938A>C (p.Lys313Thr) n.1211A>C c.983A>C (p.Lys328Thr) c.1232A>C (p.Lys411Thr) c.1046A>C (p.Lys349Thr) c.884A>C (p.Lys295Thr) c.1193A>C (p.Lys398Thr) c.1028A>C (p.Lys343Thr) c.1277A>C (p.Lys426Thr) c.1091A>C (p.Lys364Thr) n.1208A>C | |
13 | g.113118797A>G | CA388786646 | F7 | c.1124A>G (p.Lys375Arg) c.1190A>G (p.Lys397Arg) c.938A>G (p.Lys313Arg) n.1211A>G c.983A>G (p.Lys328Arg) c.1232A>G (p.Lys411Arg) c.1046A>G (p.Lys349Arg) c.884A>G (p.Lys295Arg) c.1193A>G (p.Lys398Arg) c.1028A>G (p.Lys343Arg) c.1277A>G (p.Lys426Arg) c.1091A>G (p.Lys364Arg) n.1208A>G | |
13 | g.113118797A>T | CA388786648 | F7 | c.1124A>T (p.Lys375Met) c.1190A>T (p.Lys397Met) c.938A>T (p.Lys313Met) n.1211A>T c.983A>T (p.Lys328Met) c.1232A>T (p.Lys411Met) c.1046A>T (p.Lys349Met) c.884A>T (p.Lys295Met) c.1193A>T (p.Lys398Met) c.1028A>T (p.Lys343Met) c.1277A>T (p.Lys426Met) c.1091A>T (p.Lys364Met) n.1208A>T | |
13 | g.113118798G>A | CA485021183 | F7 | c.1125G>A (p.Lys375=) c.1191G>A (p.Lys397=) c.939G>A (p.Lys313=) n.1212G>A c.984G>A (p.Lys328=) c.1233G>A (p.Lys411=) c.1047G>A (p.Lys349=) c.885G>A (p.Lys295=) c.1194G>A (p.Lys398=) c.1029G>A (p.Lys343=) c.1278G>A (p.Lys426=) c.1092G>A (p.Lys364=) n.1209G>A | gnomAD v4 |
13 | g.113118798G>C | CA388786650 | F7 | c.1125G>C (p.Lys375Asn) c.1191G>C (p.Lys397Asn) c.939G>C (p.Lys313Asn) n.1212G>C c.984G>C (p.Lys328Asn) c.1233G>C (p.Lys411Asn) c.1047G>C (p.Lys349Asn) c.885G>C (p.Lys295Asn) c.1194G>C (p.Lys398Asn) c.1029G>C (p.Lys343Asn) c.1278G>C (p.Lys426Asn) c.1092G>C (p.Lys364Asn) n.1209G>C | |
13 | g.113118798G>T | CA388786652 | F7 | c.1125G>T (p.Lys375Asn) c.1191G>T (p.Lys397Asn) c.939G>T (p.Lys313Asn) n.1212G>T c.984G>T (p.Lys328Asn) c.1233G>T (p.Lys411Asn) c.1047G>T (p.Lys349Asn) c.885G>T (p.Lys295Asn) c.1194G>T (p.Lys398Asn) c.1029G>T (p.Lys343Asn) c.1278G>T (p.Lys426Asn) c.1092G>T (p.Lys364Asn) n.1209G>T |