Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113118698G>ACA7060219F7c.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
13g.113118698G>CCA388786321F7c.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
13g.113118698G=CA2120142455F7c.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=
13g.113118698G>TCA388786322F7c.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
13g.113118699G>ACA485423998F7c.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
13g.113118699G>CCA485424000F7c.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
13g.113118699G=CA2120142460F7c.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=
13g.113118699G>TCA485423999F7c.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
13g.113118700C>ACA388786323F7c.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
13g.113118700C>GCA388786324F7c.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
13g.113118700C>TCA485424001F7c.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
13g.113118701T>ACA388786325F7c.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
13g.113118701T>CCA388786326F7c.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
13g.113118701T>GCA388786327F7c.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
13g.113118702G>ACA485424002F7c.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
13g.113118702G>CCA485424003F7c.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
13g.113118702G>TCA485424004F7c.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
13g.113118703A>CCA388786328F7c.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
13g.113118703A>GCA388786330F7c.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
13g.113118703A>TCA388786329F7c.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
13g.113118704T>ACA388786331F7c.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
13g.113118704T>CCA388786332F7c.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
13g.113118704T>GCA388786333F7c.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
13g.113118705G>ACA388786334F7c.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
13g.113118705G>CCA388786335F7c.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
13g.113118705G>TCA388786336F7c.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
13g.113118706A=CA2120142464F7c.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=
13g.113118706A>CCA388786337F7c.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
13g.113118706A>GCA388786338F7c.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
13g.113118706A>TCA7060220F7c.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
13g.113118707C>ACA388786339F7c.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
13g.113118707C=CA2120142470F7c.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=
13g.113118707C>GCA388786340F7c.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
13g.113118707C>TCA388786341F7c.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
13g.113118708C>ACA485424005F7c.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
13g.113118708C=CA2120142474F7c.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=
13g.113118708C>GCA485424006F7c.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
13g.113118708C>TCA485424007F7c.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
13g.113118709C>ACA388786342F7c.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
13g.113118709C=CA2120142477F7c.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=
13g.113118709C>GCA388786343F7c.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
13g.113118709C>TCA256461749F7c.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
13g.113118710A>CCA388786344F7c.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
13g.113118710A>GCA388786345F7c.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
13g.113118710A>TCA388786346F7c.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
13g.113118711G>ACA7060221F7c.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
13g.113118711G>CCA388786347F7c.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
13g.113118711G=CA2120142485F7c.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=
13g.113118711G>TCA388786348F7c.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
13g.113118712G>ACA256461753F7c.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
13g.113118712G>CCA388786349F7c.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
13g.113118712G=CA2120142491F7c.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=
13g.113118712G>TCA388786350F7c.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
13g.113118713A=CA2120142498F7c.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=
13g.113118713A>CCA388786351F7c.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
13g.113118713A>GCA388786352F7c.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
13g.113118713A>TCA388786353F7c.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
13g.113118714C>ACA388786355F7c.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
13g.113118714C>GCA388786354F7c.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
13g.113118714C>TCA485424008F7c.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
13g.113118715T>ACA388786356F7c.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
13g.113118715T>CCA388786357F7c.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
13g.113118715T>GCA388786358F7c.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
13g.113118716G>ACA388786359F7c.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
13g.113118716G>CCA388786360F7c.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
13g.113118716G=CA2120142502F7c.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=
13g.113118716G>TCA7060222F7c.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
13g.113118717C>ACA388786361F7c.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
13g.113118717C>GCA388786362F7c.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
13g.113118717C>TCA485424009F7c.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
13g.113118718C>ACA388786363F7c.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
13g.113118718C=CA2120142508F7c.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=
13g.113118718C>GCA388786364F7c.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
13g.113118718C>TCA485424010F7c.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
13g.113118719T>ACA388786365F7c.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
13g.113118719T>CCA388786366F7c.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
13g.113118719T>GCA388786367F7c.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
13g.113118720G>ACA485424011F7c.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
13g.113118720G>CCA485424012F7c.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
13g.113118720G=CA2120142512F7c.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=
13g.113118720G>TCA485424013F7c.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
13g.113118721C>ACA388786369F7c.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
13g.113118721C=CA2120142521F7c.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=
13g.113118721C>GCA388786370F7c.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
13g.113118721C>TCA388786368F7c.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
13g.113118722A=CA2120142527F7c.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=
13g.113118722A>CCA388786372F7c.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
13g.113118722A>GCA388786371F7c.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
13g.113118722A>TCA388786373F7c.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
13g.113118723G>ACA485424014F7c.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
13g.113118723G>CCA388786374F7c.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
13g.113118723G>TCA388786375F7c.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
13g.113118724C>ACA388786376F7c.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
13g.113118724C=CA2120142531F7c.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=
13g.113118724C>GCA388786377F7c.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
13g.113118724C>TCA388786378F7c.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
13g.113118725A>CCA388786379F7c.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
13g.113118725A>GCA388786380F7c.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
13g.113118725A>TCA388786381F7c.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
13g.113118726G>ACA485424015F7c.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
13g.113118726G>CCA388786382F7c.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
13g.113118726G>TCA388786383F7c.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
13g.113118727T>ACA388786384F7c.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
13g.113118727T>CCA7060223F7c.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
13g.113118727T>GCA388786385F7c.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
13g.113118727T=CA2120142536F7c.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=
13g.113118728delCA2623809162F7c.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
13g.113118728C>ACA388786388F7c.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
13g.113118728C>GCA388786386F7c.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
13g.113118728C>TCA388786387F7c.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
13g.113118729A=CA2120142540F7c.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=
13g.113118729A>CCA485424016F7c.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
13g.113118729A>GCA485424017F7c.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
13g.113118729A>TCA485424018F7c.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
13g.113118730C>ACA485424019F7c.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
13g.113118730C=CA2120142544F7c.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=
13g.113118730C>GCA388786389F7c.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
13g.113118730C>TCA7060224F7c.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
13g.113118731G>ACA7060225F7c.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
13g.113118731G>CCA388786390F7c.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
13g.113118731G=CA2120142548F7c.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=
13g.113118731G>TCA388786391F7c.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
13g.113118732G>ACA256461763F7c.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
13g.113118732G>CCA485424020F7c.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
13g.113118732G=CA2120142553F7c.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=
13g.113118732G>TCA485424021F7c.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
13g.113118733A=CA2120142565F7c.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=
13g.113118733A>CCA388786392F7c.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
13g.113118733A>GCA388786393F7c.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
13g.113118733A>TCA388786394F7c.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
13g.113118734A>CCA388786395F7c.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
13g.113118734A>GCA388786396F7c.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
13g.113118734A>TCA388786397F7c.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
13g.113118735G>ACA485424022F7c.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
13g.113118735G>CCA388786398F7c.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
13g.113118735G>TCA388786399F7c.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
13g.113118736G>ACA388786400F7c.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
13g.113118736G>CCA388786401F7c.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
13g.113118736G=CA2120142569F7c.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=
13g.113118736G>TCA388786402F7c.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
13g.113118737T>ACA388786403F7c.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
13g.113118737T>CCA388786404F7c.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
13g.113118737T>GCA388786405F7c.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
13g.113118737T=CA2120142574F7c.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=
13g.113118738G>ACA485424023F7c.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
13g.113118738G>CCA485424025F7c.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
13g.113118738G>TCA485424024F7c.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
13g.113118739G>ACA388786406F7c.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
13g.113118739G>CCA388786407F7c.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
13g.113118739G=CA2120142576F7c.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=
13g.113118739G>TCA388786408F7c.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
13g.113118740G>ACA388786409F7c.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
13g.113118740G>CCA388786410F7c.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
13g.113118740G>TCA388786411F7c.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
13g.113118741A=CA2120142581F7c.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=
13g.113118741A>CCA485424026F7c.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
13g.113118741A>GCA7060226F7c.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
13g.113118741A>TCA485424027F7c.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
13g.113118742G>ACA388786414F7c.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
13g.113118742G>CCA388786412F7c.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
13g.113118742G=CA2120142586F7c.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=
13g.113118742G>TCA388786413F7c.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
13g.113118743A>CCA388786415F7c.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
13g.113118743A>GCA388786416F7c.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
13g.113118743A>TCA388786417F7c.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
13g.113118744C>ACA388786418F7c.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
13g.113118744C=CA2120142589F7c.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=
13g.113118744C>GCA388786419F7c.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
13g.113118744C>TCA485424028F7c.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
13g.113118745T>ACA388786420F7c.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
13g.113118745T>CCA388786421F7c.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
13g.113118745T>GCA388786422F7c.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
13g.113118746C>ACA388786423F7c.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
13g.113118746C=CA2120142593F7c.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=
13g.113118746C>GCA388786424F7c.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
13g.113118746C>TCA388786425F7c.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
13g.113118747C>ACA485424029F7c.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
13g.113118747C>GCA485424030F7c.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
13g.113118747C>TCA485424031F7c.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
13g.113118748C>ACA388786427F7c.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
13g.113118748C=CA2120142598F7c.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=
13g.113118748C>GCA388786426F7c.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
13g.113118748C>TCA7060227F7c.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
13g.113118749C>ACA388786428F7c.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
13g.113118749C>GCA388786430F7c.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
13g.113118749C>TCA388786429F7c.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
13g.113118750A>CCA485424032F7c.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
13g.113118750A>GCA485424033F7c.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
13g.113118750A>TCA485424034F7c.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
13g.113118751A=CA2120142601F7c.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=
13g.113118751A>CCA388786431F7c.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
13g.113118751A>GCA7060228F7c.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
13g.113118751A>TCA388786432F7c.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
13g.113118752A>CCA388786433F7c.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
13g.113118752A>GCA388786434F7c.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
13g.113118752A>TCA388786436F7c.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
13g.113118753T>ACA388786437F7c.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
13g.113118753T>CCA485424035F7c.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
13g.113118753T>GCA388786439F7c.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
13g.113118753T=CA2120142604F7c.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=
13g.113118754A>CCA388786441F7c.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
13g.113118754A>GCA388786443F7c.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
13g.113118754A>TCA388786445F7c.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
13g.113118755T>ACA388786450F7c.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
13g.113118755T>CCA388786447F7c.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
13g.113118755T>GCA388786448F7c.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
13g.113118756C>ACA485424037F7c.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
13g.113118756C=CA2120142609F7c.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=
13g.113118756C>GCA388786452F7c.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
13g.113118756C>TCA485424036F7c.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
13g.113118757A>CCA388786454F7c.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
13g.113118757A>GCA388786456F7c.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
13g.113118757A>TCA388786457F7c.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
13g.113118758C>ACA388786459F7c.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
13g.113118758C=CA2120142616F7c.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=
13g.113118758C>GCA388786461F7c.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
13g.113118758C>TCA7060229F7c.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
13g.113118759G>ACA7060230F7c.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
13g.113118759G>CCA485424038F7c.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
13g.113118759G=CA2120142626F7c.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=
13g.113118759G>TCA485424039F7c.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
13g.113118760G>ACA388786464F7c.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
13g.113118760G>CCA388786466F7c.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
13g.113118760G=CA2120142629F7c.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=
13g.113118760G>TCA388786469F7c.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
13g.113118761A>CCA388786473F7c.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
13g.113118761A>GCA388786475F7c.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
13g.113118761A>TCA388786471F7c.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
13g.113118762G>ACA256461783F7c.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
13g.113118762G>CCA7060231F7c.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
13g.113118762G=CA2120142633F7c.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=
13g.113118762G>TCA388786479F7c.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
13g.113118763T>ACA388786482F7c.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
13g.113118763T>CCA388786483F7c.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
13g.113118763T>GCA388786485F7c.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
13g.113118766_113118783delCA2695218991F7c.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
13g.113118764A>CCA388786487F7c.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
13g.113118764A>GCA388786490F7c.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
13g.113118764A>TCA388786491F7c.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
13g.113118765C>ACA388786493F7c.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
13g.113118765C=CA2120142639F7c.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=
13g.113118765C>GCA388786495F7c.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
13g.113118765C>TCA7060232F7c.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
13g.113118766A=CA2120142643F7c.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=
13g.113118766A>CCA388786500F7c.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
13g.113118766A>GCA388786501F7c.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
13g.113118766A>TCA388786498F7c.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
13g.113118767T>ACA388786503F7c.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
13g.113118767T>CCA388786505F7c.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
13g.113118767T>GCA388786507F7c.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
13g.113118767T=CA2120142649F7c.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=
13g.113118768G>ACA388786509F7c.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
13g.113118768G>CCA388786511F7c.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
13g.113118768G=CA2120142655F7c.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=
13g.113118768G>TCA388786512F7c.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
13g.113118769T>ACA388786515F7c.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
13g.113118769T>CCA388786519F7c.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
13g.113118769T>GCA388786517F7c.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
13g.113118770T>ACA388786521F7c.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
13g.113118770T>CCA7060233F7c.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
13g.113118770T>GCA256461792F7c.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
13g.113118770T=CA2120142657F7c.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=
13g.113118771C>ACA388786525F7c.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
13g.113118771C>GCA388786526F7c.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
13g.113118771C>TCA485424040F7c.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
13g.113118772T>ACA388786529F7c.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
13g.113118772T>CCA7060234F7c.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
13g.113118772T>GCA121860F7c.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
13g.113118772T=CA2120142664F7c.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=
13g.113118773G>ACA388786534F7c.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
13g.113118773G>CCA388786532F7c.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
13g.113118773G>TCA388786536F7c.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
13g.113118774T>ACA388786538F7c.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
13g.113118774T>CCA485424041F7c.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
13g.113118774T>GCA388786539F7c.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
13g.113118775G>ACA388786542F7c.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
13g.113118775G>CCA388786543F7c.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
13g.113118775G>TCA388786545F7c.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
13g.113118776C>ACA388786547F7c.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
13g.113118776C>GCA388786549F7c.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
13g.113118776C>TCA388786550F7c.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
13g.113118777C>ACA485424042F7c.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
13g.113118777C=CA2018007885F7c.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=
13g.113118777C>GCA485424043F7c.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
13g.113118777C>TCA7060235F7c.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
13g.113118778G>ACA7060236F7c.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
13g.113118778G>CCA388786555F7c.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
13g.113118778G=CA2120142680F7c.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=
13g.113118778G>TCA388786557F7c.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
13g.113118779G>ACA388786562F7c.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
13g.113118779G>CCA388786563F7c.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
13g.113118779G>TCA388786560F7c.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
13g.113118780C>ACA485424044F7c.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
13g.113118780C>GCA485424046F7c.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
13g.113118780C>TCA485424045F7c.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
13g.113118781T>ACA388786567F7c.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
13g.113118781T>CCA388786568F7c.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
13g.113118781T>GCA388786570F7c.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
13g.113118782A>CCA388786573F7c.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
13g.113118782A>GCA388786574F7c.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
13g.113118782A>TCA388786577F7c.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
13g.113118783C>ACA388786579F7c.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
13g.113118783C>GCA388786581F7c.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
13g.113118783C>TCA485424047F7c.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
13g.113118784T>ACA388786584F7c.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
13g.113118784T>CCA388786585F7c.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
13g.113118784T>GCA388786587F7c.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
13g.113118785C>ACA388786589F7c.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
13g.113118785C=CA2120142685F7c.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=
13g.113118785C>GCA388786591F7c.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
13g.113118785C>TCA7060237F7c.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
13g.113118786G>ACA7060238F7c.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
13g.113118786G>CCA485424048F7c.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
13g.113118786G=CA2120142693F7c.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=
13g.113118786G>TCA485424049F7c.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
13g.113118787G>ACA388786599F7c.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
13g.113118787G>CCA388786596F7c.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
13g.113118787G=CA2120142698F7c.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=
13g.113118787G>TCA388786598F7c.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
13g.113118788A>CCA388786601F7c.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
13g.113118788A>GCA388786602F7c.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
13g.113118788A>TCA388786604F7c.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
13g.113118789T>ACA388786606F7c.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
13g.113118789T>CCA485021178F7c.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
13g.113118789T>GCA388786607F7c.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
13g.113118789T=CA2120142703F7c.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=
13g.113118790G>ACA388786610F7c.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
13g.113118790G>CCA388786612F7c.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
13g.113118790G>TCA388786614F7c.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
13g.113118791G>ACA388786616F7c.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
13g.113118791G>CCA388786618F7c.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
13g.113118791G>TCA388786620F7c.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
13g.113118792C>ACA485021179F7c.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
13g.113118792C>GCA485021180F7c.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
13g.113118792C>TCA485021181F7c.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
13g.113118793A>CCA388786623F7c.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
13g.113118793A>GCA388786625F7c.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
13g.113118793A>TCA388786621F7c.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
13g.113118794G>ACA388786627F7c.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
13g.113118794G>CCA388786629F7c.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
13g.113118794G>TCA388786631F7c.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
13g.113118795delCA2800652057F7c.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
13g.113118795C>ACA388786633F7c.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
13g.113118795C>GCA388786635F7c.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
13g.113118795C>TCA485021182F7c.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
13g.113118796A>CCA388786640F7c.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
13g.113118796A>GCA388786637F7c.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
13g.113118796A>TCA388786639F7c.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
13g.113118797A>CCA388786644F7c.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
13g.113118797A>GCA388786646F7c.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
13g.113118797A>TCA388786648F7c.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
13g.113118798G>ACA485021183F7c.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
13g.113118798G>CCA388786650F7c.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
13g.113118798G>TCA388786652F7c.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

Number of alleles fetched