Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113118766_113118783del | CA2695218991 | F7 | c.1093_1110del (p.Met365_Tyr370del) c.1159_1176del (p.Met387_Tyr392del) c.907_924del (p.Met303_Tyr308del) n.1180_1197del c.952_969del (p.Met318_Tyr323del) c.1201_1218del (p.Met401_Tyr406del) c.1015_1032del (p.Met339_Tyr344del) c.853_870del (p.Met285_Tyr290del) c.1162_1179del (p.Met388_Tyr393del) c.997_1014del (p.Met333_Tyr338del) c.1246_1263del (p.Met416_Tyr421del) c.1060_1077del (p.Met354_Tyr359del) n.1177_1194del | |
13 | g.113118783C>A | CA388786579 | F7 | c.1110C>A (p.Tyr370Ter) c.1176C>A (p.Tyr392Ter) c.924C>A (p.Tyr308Ter) n.1197C>A c.969C>A (p.Tyr323Ter) c.1218C>A (p.Tyr406Ter) c.1032C>A (p.Tyr344Ter) c.870C>A (p.Tyr290Ter) c.1179C>A (p.Tyr393Ter) c.1014C>A (p.Tyr338Ter) c.1263C>A (p.Tyr421Ter) c.1077C>A (p.Tyr359Ter) n.1194C>A | |
13 | g.113118783C>G | CA388786581 | F7 | c.1110C>G (p.Tyr370Ter) c.1176C>G (p.Tyr392Ter) c.924C>G (p.Tyr308Ter) n.1197C>G c.969C>G (p.Tyr323Ter) c.1218C>G (p.Tyr406Ter) c.1032C>G (p.Tyr344Ter) c.870C>G (p.Tyr290Ter) c.1179C>G (p.Tyr393Ter) c.1014C>G (p.Tyr338Ter) c.1263C>G (p.Tyr421Ter) c.1077C>G (p.Tyr359Ter) n.1194C>G | |
13 | g.113118783C>T | CA485424047 | F7 | c.1110C>T (p.Tyr370=) c.1176C>T (p.Tyr392=) c.924C>T (p.Tyr308=) n.1197C>T c.969C>T (p.Tyr323=) c.1218C>T (p.Tyr406=) c.1032C>T (p.Tyr344=) c.870C>T (p.Tyr290=) c.1179C>T (p.Tyr393=) c.1014C>T (p.Tyr338=) c.1263C>T (p.Tyr421=) c.1077C>T (p.Tyr359=) n.1194C>T | |
13 | g.113118784T>A | CA388786584 | F7 | c.1111T>A (p.Ser371Thr) c.1177T>A (p.Ser393Thr) c.925T>A (p.Ser309Thr) n.1198T>A c.970T>A (p.Ser324Thr) c.1219T>A (p.Ser407Thr) c.1033T>A (p.Ser345Thr) c.871T>A (p.Ser291Thr) c.1180T>A (p.Ser394Thr) c.1015T>A (p.Ser339Thr) c.1264T>A (p.Ser422Thr) c.1078T>A (p.Ser360Thr) n.1195T>A | |
13 | g.113118784T>C | CA388786585 | F7 | c.1111T>C (p.Ser371Pro) c.1177T>C (p.Ser393Pro) c.925T>C (p.Ser309Pro) n.1198T>C c.970T>C (p.Ser324Pro) c.1219T>C (p.Ser407Pro) c.1033T>C (p.Ser345Pro) c.871T>C (p.Ser291Pro) c.1180T>C (p.Ser394Pro) c.1015T>C (p.Ser339Pro) c.1264T>C (p.Ser422Pro) c.1078T>C (p.Ser360Pro) n.1195T>C | |
13 | g.113118784T>G | CA388786587 | F7 | c.1111T>G (p.Ser371Ala) c.1177T>G (p.Ser393Ala) c.925T>G (p.Ser309Ala) n.1198T>G c.970T>G (p.Ser324Ala) c.1219T>G (p.Ser407Ala) c.1033T>G (p.Ser345Ala) c.871T>G (p.Ser291Ala) c.1180T>G (p.Ser394Ala) c.1015T>G (p.Ser339Ala) c.1264T>G (p.Ser422Ala) c.1078T>G (p.Ser360Ala) n.1195T>G | |
13 | g.113118785C>A | CA388786589 | F7 | c.1112C>A (p.Ser371Ter) c.1178C>A (p.Ser393Ter) c.926C>A (p.Ser309Ter) n.1199C>A c.971C>A (p.Ser324Ter) c.1220C>A (p.Ser407Ter) c.1034C>A (p.Ser345Ter) c.872C>A (p.Ser291Ter) c.1181C>A (p.Ser394Ter) c.1016C>A (p.Ser339Ter) c.1265C>A (p.Ser422Ter) c.1079C>A (p.Ser360Ter) n.1196C>A | |
13 | g.113118785C= | CA2120142685 | F7 | c.1112C= (p.Ser371=) c.1178C= (p.Ser393=) c.926C= (p.Ser309=) n.1199C= c.971C= (p.Ser324=) c.1220C= (p.Ser407=) c.1034C= (p.Ser345=) c.872C= (p.Ser291=) c.1181C= (p.Ser394=) c.1016C= (p.Ser339=) c.1265C= (p.Ser422=) c.1079C= (p.Ser360=) n.1196C= | |
13 | g.113118785C>G | CA388786591 | F7 | c.1112C>G (p.Ser371Trp) c.1178C>G (p.Ser393Trp) c.926C>G (p.Ser309Trp) n.1199C>G c.971C>G (p.Ser324Trp) c.1220C>G (p.Ser407Trp) c.1034C>G (p.Ser345Trp) c.872C>G (p.Ser291Trp) c.1181C>G (p.Ser394Trp) c.1016C>G (p.Ser339Trp) c.1265C>G (p.Ser422Trp) c.1079C>G (p.Ser360Trp) n.1196C>G | |
13 | g.113118785C>T | CA7060237 | F7 | c.1112C>T (p.Ser371Leu) c.1178C>T (p.Ser393Leu) c.926C>T (p.Ser309Leu) n.1199C>T c.971C>T (p.Ser324Leu) c.1220C>T (p.Ser407Leu) c.1034C>T (p.Ser345Leu) c.872C>T (p.Ser291Leu) c.1181C>T (p.Ser394Leu) c.1016C>T (p.Ser339Leu) c.1265C>T (p.Ser422Leu) c.1079C>T (p.Ser360Leu) n.1196C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118786G>A | CA7060238 | F7 | c.1113G>A (p.Ser371=) c.1179G>A (p.Ser393=) c.927G>A (p.Ser309=) n.1200G>A c.972G>A (p.Ser324=) c.1221G>A (p.Ser407=) c.1035G>A (p.Ser345=) c.873G>A (p.Ser291=) c.1182G>A (p.Ser394=) c.1017G>A (p.Ser339=) c.1266G>A (p.Ser422=) c.1080G>A (p.Ser360=) n.1197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118786G>C | CA485424048 | F7 | c.1113G>C (p.Ser371=) c.1179G>C (p.Ser393=) c.927G>C (p.Ser309=) n.1200G>C c.972G>C (p.Ser324=) c.1221G>C (p.Ser407=) c.1035G>C (p.Ser345=) c.873G>C (p.Ser291=) c.1182G>C (p.Ser394=) c.1017G>C (p.Ser339=) c.1266G>C (p.Ser422=) c.1080G>C (p.Ser360=) n.1197G>C | |
13 | g.113118786G= | CA2120142693 | F7 | c.1113G= (p.Ser371=) c.1179G= (p.Ser393=) c.927G= (p.Ser309=) n.1200G= c.972G= (p.Ser324=) c.1221G= (p.Ser407=) c.1035G= (p.Ser345=) c.873G= (p.Ser291=) c.1182G= (p.Ser394=) c.1017G= (p.Ser339=) c.1266G= (p.Ser422=) c.1080G= (p.Ser360=) n.1197G= | |
13 | g.113118786G>T | CA485424049 | F7 | c.1113G>T (p.Ser371=) c.1179G>T (p.Ser393=) c.927G>T (p.Ser309=) n.1200G>T c.972G>T (p.Ser324=) c.1221G>T (p.Ser407=) c.1035G>T (p.Ser345=) c.873G>T (p.Ser291=) c.1182G>T (p.Ser394=) c.1017G>T (p.Ser339=) c.1266G>T (p.Ser422=) c.1080G>T (p.Ser360=) n.1197G>T | |
13 | g.113118787G>A | CA388786599 | F7 | c.1114G>A (p.Asp372Asn) c.1180G>A (p.Asp394Asn) c.928G>A (p.Asp310Asn) n.1201G>A c.973G>A (p.Asp325Asn) c.1222G>A (p.Asp408Asn) c.1036G>A (p.Asp346Asn) c.874G>A (p.Asp292Asn) c.1183G>A (p.Asp395Asn) c.1018G>A (p.Asp340Asn) c.1267G>A (p.Asp423Asn) c.1081G>A (p.Asp361Asn) n.1198G>A | |
13 | g.113118787G>C | CA388786596 | F7 | c.1114G>C (p.Asp372His) c.1180G>C (p.Asp394His) c.928G>C (p.Asp310His) n.1201G>C c.973G>C (p.Asp325His) c.1222G>C (p.Asp408His) c.1036G>C (p.Asp346His) c.874G>C (p.Asp292His) c.1183G>C (p.Asp395His) c.1018G>C (p.Asp340His) c.1267G>C (p.Asp423His) c.1081G>C (p.Asp361His) n.1198G>C | |
13 | g.113118787G= | CA2120142698 | F7 | c.1114G= (p.Asp372=) c.1180G= (p.Asp394=) c.928G= (p.Asp310=) n.1201G= c.973G= (p.Asp325=) c.1222G= (p.Asp408=) c.1036G= (p.Asp346=) c.874G= (p.Asp292=) c.1183G= (p.Asp395=) c.1018G= (p.Asp340=) c.1267G= (p.Asp423=) c.1081G= (p.Asp361=) n.1198G= | |
13 | g.113118787G>T | CA388786598 | F7 | c.1114G>T (p.Asp372Tyr) c.1180G>T (p.Asp394Tyr) c.928G>T (p.Asp310Tyr) n.1201G>T c.973G>T (p.Asp325Tyr) c.1222G>T (p.Asp408Tyr) c.1036G>T (p.Asp346Tyr) c.874G>T (p.Asp292Tyr) c.1183G>T (p.Asp395Tyr) c.1018G>T (p.Asp340Tyr) c.1267G>T (p.Asp423Tyr) c.1081G>T (p.Asp361Tyr) n.1198G>T | dbSNP |
13 | g.113118788A>C | CA388786601 | F7 | c.1115A>C (p.Asp372Ala) c.1181A>C (p.Asp394Ala) c.929A>C (p.Asp310Ala) n.1202A>C c.974A>C (p.Asp325Ala) c.1223A>C (p.Asp408Ala) c.1037A>C (p.Asp346Ala) c.875A>C (p.Asp292Ala) c.1184A>C (p.Asp395Ala) c.1019A>C (p.Asp340Ala) c.1268A>C (p.Asp423Ala) c.1082A>C (p.Asp361Ala) n.1199A>C | |
13 | g.113118788A>G | CA388786602 | F7 | c.1115A>G (p.Asp372Gly) c.1181A>G (p.Asp394Gly) c.929A>G (p.Asp310Gly) n.1202A>G c.974A>G (p.Asp325Gly) c.1223A>G (p.Asp408Gly) c.1037A>G (p.Asp346Gly) c.875A>G (p.Asp292Gly) c.1184A>G (p.Asp395Gly) c.1019A>G (p.Asp340Gly) c.1268A>G (p.Asp423Gly) c.1082A>G (p.Asp361Gly) n.1199A>G | gnomAD v4 |
13 | g.113118788A>T | CA388786604 | F7 | c.1115A>T (p.Asp372Val) c.1181A>T (p.Asp394Val) c.929A>T (p.Asp310Val) n.1202A>T c.974A>T (p.Asp325Val) c.1223A>T (p.Asp408Val) c.1037A>T (p.Asp346Val) c.875A>T (p.Asp292Val) c.1184A>T (p.Asp395Val) c.1019A>T (p.Asp340Val) c.1268A>T (p.Asp423Val) c.1082A>T (p.Asp361Val) n.1199A>T | |
13 | g.113118789T>A | CA388786606 | F7 | c.1116T>A (p.Asp372Glu) c.1182T>A (p.Asp394Glu) c.930T>A (p.Asp310Glu) n.1203T>A c.975T>A (p.Asp325Glu) c.1224T>A (p.Asp408Glu) c.1038T>A (p.Asp346Glu) c.876T>A (p.Asp292Glu) c.1185T>A (p.Asp395Glu) c.1020T>A (p.Asp340Glu) c.1269T>A (p.Asp423Glu) c.1083T>A (p.Asp361Glu) n.1200T>A | |
13 | g.113118789T>C | CA485021178 | F7 | c.1116T>C (p.Asp372=) c.1182T>C (p.Asp394=) c.930T>C (p.Asp310=) n.1203T>C c.975T>C (p.Asp325=) c.1224T>C (p.Asp408=) c.1038T>C (p.Asp346=) c.876T>C (p.Asp292=) c.1185T>C (p.Asp395=) c.1020T>C (p.Asp340=) c.1269T>C (p.Asp423=) c.1083T>C (p.Asp361=) n.1200T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118789T>G | CA388786607 | F7 | c.1116T>G (p.Asp372Glu) c.1182T>G (p.Asp394Glu) c.930T>G (p.Asp310Glu) n.1203T>G c.975T>G (p.Asp325Glu) c.1224T>G (p.Asp408Glu) c.1038T>G (p.Asp346Glu) c.876T>G (p.Asp292Glu) c.1185T>G (p.Asp395Glu) c.1020T>G (p.Asp340Glu) c.1269T>G (p.Asp423Glu) c.1083T>G (p.Asp361Glu) n.1200T>G | |
13 | g.113118789T= | CA2120142703 | F7 | c.1116T= (p.Asp372=) c.1182T= (p.Asp394=) c.930T= (p.Asp310=) n.1203T= c.975T= (p.Asp325=) c.1224T= (p.Asp408=) c.1038T= (p.Asp346=) c.876T= (p.Asp292=) c.1185T= (p.Asp395=) c.1020T= (p.Asp340=) c.1269T= (p.Asp423=) c.1083T= (p.Asp361=) n.1200T= | |
13 | g.113118790G>A | CA388786610 | F7 | c.1117G>A (p.Gly373Ser) c.1183G>A (p.Gly395Ser) c.931G>A (p.Gly311Ser) n.1204G>A c.976G>A (p.Gly326Ser) c.1225G>A (p.Gly409Ser) c.1039G>A (p.Gly347Ser) c.877G>A (p.Gly293Ser) c.1186G>A (p.Gly396Ser) c.1021G>A (p.Gly341Ser) c.1270G>A (p.Gly424Ser) c.1084G>A (p.Gly362Ser) n.1201G>A | |
13 | g.113118790G>C | CA388786612 | F7 | c.1117G>C (p.Gly373Arg) c.1183G>C (p.Gly395Arg) c.931G>C (p.Gly311Arg) n.1204G>C c.976G>C (p.Gly326Arg) c.1225G>C (p.Gly409Arg) c.1039G>C (p.Gly347Arg) c.877G>C (p.Gly293Arg) c.1186G>C (p.Gly396Arg) c.1021G>C (p.Gly341Arg) c.1270G>C (p.Gly424Arg) c.1084G>C (p.Gly362Arg) n.1201G>C | |
13 | g.113118790G>T | CA388786614 | F7 | c.1117G>T (p.Gly373Cys) c.1183G>T (p.Gly395Cys) c.931G>T (p.Gly311Cys) n.1204G>T c.976G>T (p.Gly326Cys) c.1225G>T (p.Gly409Cys) c.1039G>T (p.Gly347Cys) c.877G>T (p.Gly293Cys) c.1186G>T (p.Gly396Cys) c.1021G>T (p.Gly341Cys) c.1270G>T (p.Gly424Cys) c.1084G>T (p.Gly362Cys) n.1201G>T | |
13 | g.113118791G>A | CA388786616 | F7 | c.1118G>A (p.Gly373Asp) c.1184G>A (p.Gly395Asp) c.932G>A (p.Gly311Asp) n.1205G>A c.977G>A (p.Gly326Asp) c.1226G>A (p.Gly409Asp) c.1040G>A (p.Gly347Asp) c.878G>A (p.Gly293Asp) c.1187G>A (p.Gly396Asp) c.1022G>A (p.Gly341Asp) c.1271G>A (p.Gly424Asp) c.1085G>A (p.Gly362Asp) n.1202G>A | gnomAD v4 |
13 | g.113118791G>C | CA388786618 | F7 | c.1118G>C (p.Gly373Ala) c.1184G>C (p.Gly395Ala) c.932G>C (p.Gly311Ala) n.1205G>C c.977G>C (p.Gly326Ala) c.1226G>C (p.Gly409Ala) c.1040G>C (p.Gly347Ala) c.878G>C (p.Gly293Ala) c.1187G>C (p.Gly396Ala) c.1022G>C (p.Gly341Ala) c.1271G>C (p.Gly424Ala) c.1085G>C (p.Gly362Ala) n.1202G>C | |
13 | g.113118791G>T | CA388786620 | F7 | c.1118G>T (p.Gly373Val) c.1184G>T (p.Gly395Val) c.932G>T (p.Gly311Val) n.1205G>T c.977G>T (p.Gly326Val) c.1226G>T (p.Gly409Val) c.1040G>T (p.Gly347Val) c.878G>T (p.Gly293Val) c.1187G>T (p.Gly396Val) c.1022G>T (p.Gly341Val) c.1271G>T (p.Gly424Val) c.1085G>T (p.Gly362Val) n.1202G>T | |
13 | g.113118792C>A | CA485021179 | F7 | c.1119C>A (p.Gly373=) c.1185C>A (p.Gly395=) c.933C>A (p.Gly311=) n.1206C>A c.978C>A (p.Gly326=) c.1227C>A (p.Gly409=) c.1041C>A (p.Gly347=) c.879C>A (p.Gly293=) c.1188C>A (p.Gly396=) c.1023C>A (p.Gly341=) c.1272C>A (p.Gly424=) c.1086C>A (p.Gly362=) n.1203C>A | |
13 | g.113118792C>G | CA485021180 | F7 | c.1119C>G (p.Gly373=) c.1185C>G (p.Gly395=) c.933C>G (p.Gly311=) n.1206C>G c.978C>G (p.Gly326=) c.1227C>G (p.Gly409=) c.1041C>G (p.Gly347=) c.879C>G (p.Gly293=) c.1188C>G (p.Gly396=) c.1023C>G (p.Gly341=) c.1272C>G (p.Gly424=) c.1086C>G (p.Gly362=) n.1203C>G | |
13 | g.113118792C>T | CA485021181 | F7 | c.1119C>T (p.Gly373=) c.1185C>T (p.Gly395=) c.933C>T (p.Gly311=) n.1206C>T c.978C>T (p.Gly326=) c.1227C>T (p.Gly409=) c.1041C>T (p.Gly347=) c.879C>T (p.Gly293=) c.1188C>T (p.Gly396=) c.1023C>T (p.Gly341=) c.1272C>T (p.Gly424=) c.1086C>T (p.Gly362=) n.1203C>T | |
13 | g.113118793A>C | CA388786623 | F7 | c.1120A>C (p.Ser374Arg) c.1186A>C (p.Ser396Arg) c.934A>C (p.Ser312Arg) n.1207A>C c.979A>C (p.Ser327Arg) c.1228A>C (p.Ser410Arg) c.1042A>C (p.Ser348Arg) c.880A>C (p.Ser294Arg) c.1189A>C (p.Ser397Arg) c.1024A>C (p.Ser342Arg) c.1273A>C (p.Ser425Arg) c.1087A>C (p.Ser363Arg) n.1204A>C | |
13 | g.113118793A>G | CA388786625 | F7 | c.1120A>G (p.Ser374Gly) c.1186A>G (p.Ser396Gly) c.934A>G (p.Ser312Gly) n.1207A>G c.979A>G (p.Ser327Gly) c.1228A>G (p.Ser410Gly) c.1042A>G (p.Ser348Gly) c.880A>G (p.Ser294Gly) c.1189A>G (p.Ser397Gly) c.1024A>G (p.Ser342Gly) c.1273A>G (p.Ser425Gly) c.1087A>G (p.Ser363Gly) n.1204A>G | gnomAD v4 |
13 | g.113118793A>T | CA388786621 | F7 | c.1120A>T (p.Ser374Cys) c.1186A>T (p.Ser396Cys) c.934A>T (p.Ser312Cys) n.1207A>T c.979A>T (p.Ser327Cys) c.1228A>T (p.Ser410Cys) c.1042A>T (p.Ser348Cys) c.880A>T (p.Ser294Cys) c.1189A>T (p.Ser397Cys) c.1024A>T (p.Ser342Cys) c.1273A>T (p.Ser425Cys) c.1087A>T (p.Ser363Cys) n.1204A>T | |
13 | g.113118794G>A | CA388786627 | F7 | c.1121G>A (p.Ser374Asn) c.1187G>A (p.Ser396Asn) c.935G>A (p.Ser312Asn) n.1208G>A c.980G>A (p.Ser327Asn) c.1229G>A (p.Ser410Asn) c.1043G>A (p.Ser348Asn) c.881G>A (p.Ser294Asn) c.1190G>A (p.Ser397Asn) c.1025G>A (p.Ser342Asn) c.1274G>A (p.Ser425Asn) c.1088G>A (p.Ser363Asn) n.1205G>A | |
13 | g.113118794G>C | CA388786629 | F7 | c.1121G>C (p.Ser374Thr) c.1187G>C (p.Ser396Thr) c.935G>C (p.Ser312Thr) n.1208G>C c.980G>C (p.Ser327Thr) c.1229G>C (p.Ser410Thr) c.1043G>C (p.Ser348Thr) c.881G>C (p.Ser294Thr) c.1190G>C (p.Ser397Thr) c.1025G>C (p.Ser342Thr) c.1274G>C (p.Ser425Thr) c.1088G>C (p.Ser363Thr) n.1205G>C | |
13 | g.113118794G>T | CA388786631 | F7 | c.1121G>T (p.Ser374Ile) c.1187G>T (p.Ser396Ile) c.935G>T (p.Ser312Ile) n.1208G>T c.980G>T (p.Ser327Ile) c.1229G>T (p.Ser410Ile) c.1043G>T (p.Ser348Ile) c.881G>T (p.Ser294Ile) c.1190G>T (p.Ser397Ile) c.1025G>T (p.Ser342Ile) c.1274G>T (p.Ser425Ile) c.1088G>T (p.Ser363Ile) n.1205G>T | COSMIC COSMIC |
13 | g.113118795del | CA2800652057 | F7 | c.1122del (p.Ser374ArgfsTer23) c.1188del (p.Ser396ArgfsTer23) c.936del (p.Ser312ArgfsTer23) n.1209del c.981del (p.Ser327ArgfsTer23) c.1230del (p.Ser410ArgfsTer23) c.1044del (p.Ser348ArgfsTer23) c.882del (p.Ser294ArgfsTer23) c.1191del (p.Ser397ArgfsTer23) c.1026del (p.Ser342ArgfsTer23) c.1275del (p.Ser425ArgfsTer23) c.1089del (p.Ser363ArgfsTer23) n.1206del | |
13 | g.113118795C>A | CA388786633 | F7 | c.1122C>A (p.Ser374Arg) c.1188C>A (p.Ser396Arg) c.936C>A (p.Ser312Arg) n.1209C>A c.981C>A (p.Ser327Arg) c.1230C>A (p.Ser410Arg) c.1044C>A (p.Ser348Arg) c.882C>A (p.Ser294Arg) c.1191C>A (p.Ser397Arg) c.1026C>A (p.Ser342Arg) c.1275C>A (p.Ser425Arg) c.1089C>A (p.Ser363Arg) n.1206C>A | |
13 | g.113118795C>G | CA388786635 | F7 | c.1122C>G (p.Ser374Arg) c.1188C>G (p.Ser396Arg) c.936C>G (p.Ser312Arg) n.1209C>G c.981C>G (p.Ser327Arg) c.1230C>G (p.Ser410Arg) c.1044C>G (p.Ser348Arg) c.882C>G (p.Ser294Arg) c.1191C>G (p.Ser397Arg) c.1026C>G (p.Ser342Arg) c.1275C>G (p.Ser425Arg) c.1089C>G (p.Ser363Arg) n.1206C>G | |
13 | g.113118795C>T | CA485021182 | F7 | c.1122C>T (p.Ser374=) c.1188C>T (p.Ser396=) c.936C>T (p.Ser312=) n.1209C>T c.981C>T (p.Ser327=) c.1230C>T (p.Ser410=) c.1044C>T (p.Ser348=) c.882C>T (p.Ser294=) c.1191C>T (p.Ser397=) c.1026C>T (p.Ser342=) c.1275C>T (p.Ser425=) c.1089C>T (p.Ser363=) n.1206C>T | |
13 | g.113118796A>C | CA388786640 | F7 | c.1123A>C (p.Lys375Gln) c.1189A>C (p.Lys397Gln) c.937A>C (p.Lys313Gln) n.1210A>C c.982A>C (p.Lys328Gln) c.1231A>C (p.Lys411Gln) c.1045A>C (p.Lys349Gln) c.883A>C (p.Lys295Gln) c.1192A>C (p.Lys398Gln) c.1027A>C (p.Lys343Gln) c.1276A>C (p.Lys426Gln) c.1090A>C (p.Lys364Gln) n.1207A>C | |
13 | g.113118796A>G | CA388786637 | F7 | c.1123A>G (p.Lys375Glu) c.1189A>G (p.Lys397Glu) c.937A>G (p.Lys313Glu) n.1210A>G c.982A>G (p.Lys328Glu) c.1231A>G (p.Lys411Glu) c.1045A>G (p.Lys349Glu) c.883A>G (p.Lys295Glu) c.1192A>G (p.Lys398Glu) c.1027A>G (p.Lys343Glu) c.1276A>G (p.Lys426Glu) c.1090A>G (p.Lys364Glu) n.1207A>G | |
13 | g.113118796A>T | CA388786639 | F7 | c.1123A>T (p.Lys375Ter) c.1189A>T (p.Lys397Ter) c.937A>T (p.Lys313Ter) n.1210A>T c.982A>T (p.Lys328Ter) c.1231A>T (p.Lys411Ter) c.1045A>T (p.Lys349Ter) c.883A>T (p.Lys295Ter) c.1192A>T (p.Lys398Ter) c.1027A>T (p.Lys343Ter) c.1276A>T (p.Lys426Ter) c.1090A>T (p.Lys364Ter) n.1207A>T | |
13 | g.113118797A>C | CA388786644 | F7 | c.1124A>C (p.Lys375Thr) c.1190A>C (p.Lys397Thr) c.938A>C (p.Lys313Thr) n.1211A>C c.983A>C (p.Lys328Thr) c.1232A>C (p.Lys411Thr) c.1046A>C (p.Lys349Thr) c.884A>C (p.Lys295Thr) c.1193A>C (p.Lys398Thr) c.1028A>C (p.Lys343Thr) c.1277A>C (p.Lys426Thr) c.1091A>C (p.Lys364Thr) n.1208A>C | |
13 | g.113118797A>G | CA388786646 | F7 | c.1124A>G (p.Lys375Arg) c.1190A>G (p.Lys397Arg) c.938A>G (p.Lys313Arg) n.1211A>G c.983A>G (p.Lys328Arg) c.1232A>G (p.Lys411Arg) c.1046A>G (p.Lys349Arg) c.884A>G (p.Lys295Arg) c.1193A>G (p.Lys398Arg) c.1028A>G (p.Lys343Arg) c.1277A>G (p.Lys426Arg) c.1091A>G (p.Lys364Arg) n.1208A>G | |
13 | g.113118797A>T | CA388786648 | F7 | c.1124A>T (p.Lys375Met) c.1190A>T (p.Lys397Met) c.938A>T (p.Lys313Met) n.1211A>T c.983A>T (p.Lys328Met) c.1232A>T (p.Lys411Met) c.1046A>T (p.Lys349Met) c.884A>T (p.Lys295Met) c.1193A>T (p.Lys398Met) c.1028A>T (p.Lys343Met) c.1277A>T (p.Lys426Met) c.1091A>T (p.Lys364Met) n.1208A>T | |
13 | g.113118798G>A | CA485021183 | F7 | c.1125G>A (p.Lys375=) c.1191G>A (p.Lys397=) c.939G>A (p.Lys313=) n.1212G>A c.984G>A (p.Lys328=) c.1233G>A (p.Lys411=) c.1047G>A (p.Lys349=) c.885G>A (p.Lys295=) c.1194G>A (p.Lys398=) c.1029G>A (p.Lys343=) c.1278G>A (p.Lys426=) c.1092G>A (p.Lys364=) n.1209G>A | gnomAD v4 |
13 | g.113118798G>C | CA388786650 | F7 | c.1125G>C (p.Lys375Asn) c.1191G>C (p.Lys397Asn) c.939G>C (p.Lys313Asn) n.1212G>C c.984G>C (p.Lys328Asn) c.1233G>C (p.Lys411Asn) c.1047G>C (p.Lys349Asn) c.885G>C (p.Lys295Asn) c.1194G>C (p.Lys398Asn) c.1029G>C (p.Lys343Asn) c.1278G>C (p.Lys426Asn) c.1092G>C (p.Lys364Asn) n.1209G>C | |
13 | g.113118798G>T | CA388786652 | F7 | c.1125G>T (p.Lys375Asn) c.1191G>T (p.Lys397Asn) c.939G>T (p.Lys313Asn) n.1212G>T c.984G>T (p.Lys328Asn) c.1233G>T (p.Lys411Asn) c.1047G>T (p.Lys349Asn) c.885G>T (p.Lys295Asn) c.1194G>T (p.Lys398Asn) c.1029G>T (p.Lys343Asn) c.1278G>T (p.Lys426Asn) c.1092G>T (p.Lys364Asn) n.1209G>T | |
13 | g.113118799G>A | CA388786655 | F7 | c.1126G>A (p.Asp376Asn) c.1192G>A (p.Asp398Asn) c.940G>A (p.Asp314Asn) n.1213G>A c.985G>A (p.Asp329Asn) c.1234G>A (p.Asp412Asn) c.1048G>A (p.Asp350Asn) c.886G>A (p.Asp296Asn) c.1195G>A (p.Asp399Asn) c.1030G>A (p.Asp344Asn) c.1279G>A (p.Asp427Asn) c.1093G>A (p.Asp365Asn) n.1210G>A | |
13 | g.113118799G>C | CA388786659 | F7 | c.1126G>C (p.Asp376His) c.1192G>C (p.Asp398His) c.940G>C (p.Asp314His) n.1213G>C c.985G>C (p.Asp329His) c.1234G>C (p.Asp412His) c.1048G>C (p.Asp350His) c.886G>C (p.Asp296His) c.1195G>C (p.Asp399His) c.1030G>C (p.Asp344His) c.1279G>C (p.Asp427His) c.1093G>C (p.Asp365His) n.1210G>C | |
13 | g.113118799G>T | CA388786657 | F7 | c.1126G>T (p.Asp376Tyr) c.1192G>T (p.Asp398Tyr) c.940G>T (p.Asp314Tyr) n.1213G>T c.985G>T (p.Asp329Tyr) c.1234G>T (p.Asp412Tyr) c.1048G>T (p.Asp350Tyr) c.886G>T (p.Asp296Tyr) c.1195G>T (p.Asp399Tyr) c.1030G>T (p.Asp344Tyr) c.1279G>T (p.Asp427Tyr) c.1093G>T (p.Asp365Tyr) n.1210G>T | |
13 | g.113118800A>C | CA388786661 | F7 | c.1127A>C (p.Asp376Ala) c.1193A>C (p.Asp398Ala) c.941A>C (p.Asp314Ala) n.1214A>C c.986A>C (p.Asp329Ala) c.1235A>C (p.Asp412Ala) c.1049A>C (p.Asp350Ala) c.887A>C (p.Asp296Ala) c.1196A>C (p.Asp399Ala) c.1031A>C (p.Asp344Ala) c.1280A>C (p.Asp427Ala) c.1094A>C (p.Asp365Ala) n.1211A>C | |
13 | g.113118800A>G | CA388786666 | F7 | c.1127A>G (p.Asp376Gly) c.1193A>G (p.Asp398Gly) c.941A>G (p.Asp314Gly) n.1214A>G c.986A>G (p.Asp329Gly) c.1235A>G (p.Asp412Gly) c.1049A>G (p.Asp350Gly) c.887A>G (p.Asp296Gly) c.1196A>G (p.Asp399Gly) c.1031A>G (p.Asp344Gly) c.1280A>G (p.Asp427Gly) c.1094A>G (p.Asp365Gly) n.1211A>G | |
13 | g.113118800A>T | CA388786663 | F7 | c.1127A>T (p.Asp376Val) c.1193A>T (p.Asp398Val) c.941A>T (p.Asp314Val) n.1214A>T c.986A>T (p.Asp329Val) c.1235A>T (p.Asp412Val) c.1049A>T (p.Asp350Val) c.887A>T (p.Asp296Val) c.1196A>T (p.Asp399Val) c.1031A>T (p.Asp344Val) c.1280A>T (p.Asp427Val) c.1094A>T (p.Asp365Val) n.1211A>T | |
13 | g.113118801C>A | CA388786667 | F7 | c.1128C>A (p.Asp376Glu) c.1194C>A (p.Asp398Glu) c.942C>A (p.Asp314Glu) n.1215C>A c.987C>A (p.Asp329Glu) c.1236C>A (p.Asp412Glu) c.1050C>A (p.Asp350Glu) c.888C>A (p.Asp296Glu) c.1197C>A (p.Asp399Glu) c.1032C>A (p.Asp344Glu) c.1281C>A (p.Asp427Glu) c.1095C>A (p.Asp365Glu) n.1212C>A | |
13 | g.113118801C>G | CA388786669 | F7 | c.1128C>G (p.Asp376Glu) c.1194C>G (p.Asp398Glu) c.942C>G (p.Asp314Glu) n.1215C>G c.987C>G (p.Asp329Glu) c.1236C>G (p.Asp412Glu) c.1050C>G (p.Asp350Glu) c.888C>G (p.Asp296Glu) c.1197C>G (p.Asp399Glu) c.1032C>G (p.Asp344Glu) c.1281C>G (p.Asp427Glu) c.1095C>G (p.Asp365Glu) n.1212C>G | |
13 | g.113118801C>T | CA485021184 | F7 | c.1128C>T (p.Asp376=) c.1194C>T (p.Asp398=) c.942C>T (p.Asp314=) n.1215C>T c.987C>T (p.Asp329=) c.1236C>T (p.Asp412=) c.1050C>T (p.Asp350=) c.888C>T (p.Asp296=) c.1197C>T (p.Asp399=) c.1032C>T (p.Asp344=) c.1281C>T (p.Asp427=) c.1095C>T (p.Asp365=) n.1212C>T | |
13 | g.113118802T>A | CA388786670 | F7 | c.1129T>A (p.Ser377Thr) c.1195T>A (p.Ser399Thr) c.943T>A (p.Ser315Thr) n.1216T>A c.988T>A (p.Ser330Thr) c.1237T>A (p.Ser413Thr) c.1051T>A (p.Ser351Thr) c.889T>A (p.Ser297Thr) c.1198T>A (p.Ser400Thr) c.1033T>A (p.Ser345Thr) c.1282T>A (p.Ser428Thr) c.1096T>A (p.Ser366Thr) n.1213T>A | |
13 | g.113118802T>C | CA388786671 | F7 | c.1129T>C (p.Ser377Pro) c.1195T>C (p.Ser399Pro) c.943T>C (p.Ser315Pro) n.1216T>C c.988T>C (p.Ser330Pro) c.1237T>C (p.Ser413Pro) c.1051T>C (p.Ser351Pro) c.889T>C (p.Ser297Pro) c.1198T>C (p.Ser400Pro) c.1033T>C (p.Ser345Pro) c.1282T>C (p.Ser428Pro) c.1096T>C (p.Ser366Pro) n.1213T>C | dbSNP gnomAD v4 |
13 | g.113118802T>G | CA388786674 | F7 | c.1129T>G (p.Ser377Ala) c.1195T>G (p.Ser399Ala) c.943T>G (p.Ser315Ala) n.1216T>G c.988T>G (p.Ser330Ala) c.1237T>G (p.Ser413Ala) c.1051T>G (p.Ser351Ala) c.889T>G (p.Ser297Ala) c.1198T>G (p.Ser400Ala) c.1033T>G (p.Ser345Ala) c.1282T>G (p.Ser428Ala) c.1096T>G (p.Ser366Ala) n.1213T>G | |
13 | g.113118802T= | CA2120142708 | F7 | c.1129T= (p.Ser377=) c.1195T= (p.Ser399=) c.943T= (p.Ser315=) n.1216T= c.988T= (p.Ser330=) c.1237T= (p.Ser413=) c.1051T= (p.Ser351=) c.889T= (p.Ser297=) c.1198T= (p.Ser400=) c.1033T= (p.Ser345=) c.1282T= (p.Ser428=) c.1096T= (p.Ser366=) n.1213T= | |
13 | g.113118803C>A | CA388786676 | F7 | c.1130C>A (p.Ser377Tyr) c.1196C>A (p.Ser399Tyr) c.944C>A (p.Ser315Tyr) n.1217C>A c.989C>A (p.Ser330Tyr) c.1238C>A (p.Ser413Tyr) c.1052C>A (p.Ser351Tyr) c.890C>A (p.Ser297Tyr) c.1199C>A (p.Ser400Tyr) c.1034C>A (p.Ser345Tyr) c.1283C>A (p.Ser428Tyr) c.1097C>A (p.Ser366Tyr) n.1214C>A | |
13 | g.113118803C>G | CA388786678 | F7 | c.1130C>G (p.Ser377Cys) c.1196C>G (p.Ser399Cys) c.944C>G (p.Ser315Cys) n.1217C>G c.989C>G (p.Ser330Cys) c.1238C>G (p.Ser413Cys) c.1052C>G (p.Ser351Cys) c.890C>G (p.Ser297Cys) c.1199C>G (p.Ser400Cys) c.1034C>G (p.Ser345Cys) c.1283C>G (p.Ser428Cys) c.1097C>G (p.Ser366Cys) n.1214C>G | |
13 | g.113118803C>T | CA388786680 | F7 | c.1130C>T (p.Ser377Phe) c.1196C>T (p.Ser399Phe) c.944C>T (p.Ser315Phe) n.1217C>T c.989C>T (p.Ser330Phe) c.1238C>T (p.Ser413Phe) c.1052C>T (p.Ser351Phe) c.890C>T (p.Ser297Phe) c.1199C>T (p.Ser400Phe) c.1034C>T (p.Ser345Phe) c.1283C>T (p.Ser428Phe) c.1097C>T (p.Ser366Phe) n.1214C>T | |
13 | g.113118804C>A | CA485021185 | F7 | c.1131C>A (p.Ser377=) c.1197C>A (p.Ser399=) c.945C>A (p.Ser315=) n.1218C>A c.990C>A (p.Ser330=) c.1239C>A (p.Ser413=) c.1053C>A (p.Ser351=) c.891C>A (p.Ser297=) c.1200C>A (p.Ser400=) c.1035C>A (p.Ser345=) c.1284C>A (p.Ser428=) c.1098C>A (p.Ser366=) n.1215C>A | |
13 | g.113118804C>G | CA485021186 | F7 | c.1131C>G (p.Ser377=) c.1197C>G (p.Ser399=) c.945C>G (p.Ser315=) n.1218C>G c.990C>G (p.Ser330=) c.1239C>G (p.Ser413=) c.1053C>G (p.Ser351=) c.891C>G (p.Ser297=) c.1200C>G (p.Ser400=) c.1035C>G (p.Ser345=) c.1284C>G (p.Ser428=) c.1098C>G (p.Ser366=) n.1215C>G | |
13 | g.113118804C>T | CA485021187 | F7 | c.1131C>T (p.Ser377=) c.1197C>T (p.Ser399=) c.945C>T (p.Ser315=) n.1218C>T c.990C>T (p.Ser330=) c.1239C>T (p.Ser413=) c.1053C>T (p.Ser351=) c.891C>T (p.Ser297=) c.1200C>T (p.Ser400=) c.1035C>T (p.Ser345=) c.1284C>T (p.Ser428=) c.1098C>T (p.Ser366=) n.1215C>T | |
13 | g.113118805T>A | CA388786683 | F7 | c.1132T>A (p.Cys378Ser) c.1198T>A (p.Cys400Ser) c.946T>A (p.Cys316Ser) n.1219T>A c.991T>A (p.Cys331Ser) c.1240T>A (p.Cys414Ser) c.1054T>A (p.Cys352Ser) c.892T>A (p.Cys298Ser) c.1201T>A (p.Cys401Ser) c.1036T>A (p.Cys346Ser) c.1285T>A (p.Cys429Ser) c.1099T>A (p.Cys367Ser) n.1216T>A | |
13 | g.113118805T>C | CA388786685 | F7 | c.1132T>C (p.Cys378Arg) c.1198T>C (p.Cys400Arg) c.946T>C (p.Cys316Arg) n.1219T>C c.991T>C (p.Cys331Arg) c.1240T>C (p.Cys414Arg) c.1054T>C (p.Cys352Arg) c.892T>C (p.Cys298Arg) c.1201T>C (p.Cys401Arg) c.1036T>C (p.Cys346Arg) c.1285T>C (p.Cys429Arg) c.1099T>C (p.Cys367Arg) n.1216T>C | |
13 | g.113118805T>G | CA388786687 | F7 | c.1132T>G (p.Cys378Gly) c.1198T>G (p.Cys400Gly) c.946T>G (p.Cys316Gly) n.1219T>G c.991T>G (p.Cys331Gly) c.1240T>G (p.Cys414Gly) c.1054T>G (p.Cys352Gly) c.892T>G (p.Cys298Gly) c.1201T>G (p.Cys401Gly) c.1036T>G (p.Cys346Gly) c.1285T>G (p.Cys429Gly) c.1099T>G (p.Cys367Gly) n.1216T>G | |
13 | g.113118806G>A | CA388786693 | F7 | c.1133G>A (p.Cys378Tyr) c.1199G>A (p.Cys400Tyr) c.947G>A (p.Cys316Tyr) n.1220G>A c.992G>A (p.Cys331Tyr) c.1241G>A (p.Cys414Tyr) c.1055G>A (p.Cys352Tyr) c.893G>A (p.Cys298Tyr) c.1202G>A (p.Cys401Tyr) c.1037G>A (p.Cys346Tyr) c.1286G>A (p.Cys429Tyr) c.1100G>A (p.Cys367Tyr) n.1217G>A | gnomAD v4 |
13 | g.113118806G>C | CA388786690 | F7 | c.1133G>C (p.Cys378Ser) c.1199G>C (p.Cys400Ser) c.947G>C (p.Cys316Ser) n.1220G>C c.992G>C (p.Cys331Ser) c.1241G>C (p.Cys414Ser) c.1055G>C (p.Cys352Ser) c.893G>C (p.Cys298Ser) c.1202G>C (p.Cys401Ser) c.1037G>C (p.Cys346Ser) c.1286G>C (p.Cys429Ser) c.1100G>C (p.Cys367Ser) n.1217G>C | |
13 | g.113118806G>T | CA388786691 | F7 | c.1133G>T (p.Cys378Phe) c.1199G>T (p.Cys400Phe) c.947G>T (p.Cys316Phe) n.1220G>T c.992G>T (p.Cys331Phe) c.1241G>T (p.Cys414Phe) c.1055G>T (p.Cys352Phe) c.893G>T (p.Cys298Phe) c.1202G>T (p.Cys401Phe) c.1037G>T (p.Cys346Phe) c.1286G>T (p.Cys429Phe) c.1100G>T (p.Cys367Phe) n.1217G>T | |
13 | g.113118807C>A | CA388786695 | F7 | c.1134C>A (p.Cys378Ter) c.1200C>A (p.Cys400Ter) c.948C>A (p.Cys316Ter) n.1221C>A c.993C>A (p.Cys331Ter) c.1242C>A (p.Cys414Ter) c.1056C>A (p.Cys352Ter) c.894C>A (p.Cys298Ter) c.1203C>A (p.Cys401Ter) c.1038C>A (p.Cys346Ter) c.1287C>A (p.Cys429Ter) c.1101C>A (p.Cys367Ter) n.1218C>A | |
13 | g.113118807C= | CA2120142713 | F7 | c.1134C= (p.Cys378=) c.1200C= (p.Cys400=) c.948C= (p.Cys316=) n.1221C= c.993C= (p.Cys331=) c.1242C= (p.Cys414=) c.1056C= (p.Cys352=) c.894C= (p.Cys298=) c.1203C= (p.Cys401=) c.1038C= (p.Cys346=) c.1287C= (p.Cys429=) c.1101C= (p.Cys367=) n.1218C= | |
13 | g.113118807C>G | CA388786697 | F7 | c.1134C>G (p.Cys378Trp) c.1200C>G (p.Cys400Trp) c.948C>G (p.Cys316Trp) n.1221C>G c.993C>G (p.Cys331Trp) c.1242C>G (p.Cys414Trp) c.1056C>G (p.Cys352Trp) c.894C>G (p.Cys298Trp) c.1203C>G (p.Cys401Trp) c.1038C>G (p.Cys346Trp) c.1287C>G (p.Cys429Trp) c.1101C>G (p.Cys367Trp) n.1218C>G | |
13 | g.113118807C>T | CA485021188 | F7 | c.1134C>T (p.Cys378=) c.1200C>T (p.Cys400=) c.948C>T (p.Cys316=) n.1221C>T c.993C>T (p.Cys331=) c.1242C>T (p.Cys414=) c.1056C>T (p.Cys352=) c.894C>T (p.Cys298=) c.1203C>T (p.Cys401=) c.1038C>T (p.Cys346=) c.1287C>T (p.Cys429=) c.1101C>T (p.Cys367=) n.1218C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118808A= | CA2120142715 | F7 | c.1135A= (p.Lys379=) c.1201A= (p.Lys401=) c.949A= (p.Lys317=) n.1222A= c.994A= (p.Lys332=) c.1243A= (p.Lys415=) c.1057A= (p.Lys353=) c.895A= (p.Lys299=) c.1204A= (p.Lys402=) c.1039A= (p.Lys347=) c.1288A= (p.Lys430=) c.1102A= (p.Lys368=) n.1219A= | |
13 | g.113118808A>C | CA388786699 | F7 | c.1135A>C (p.Lys379Gln) c.1201A>C (p.Lys401Gln) c.949A>C (p.Lys317Gln) n.1222A>C c.994A>C (p.Lys332Gln) c.1243A>C (p.Lys415Gln) c.1057A>C (p.Lys353Gln) c.895A>C (p.Lys299Gln) c.1204A>C (p.Lys402Gln) c.1039A>C (p.Lys347Gln) c.1288A>C (p.Lys430Gln) c.1102A>C (p.Lys368Gln) n.1219A>C | |
13 | g.113118808A>G | CA7060239 | F7 | c.1135A>G (p.Lys379Glu) c.1201A>G (p.Lys401Glu) c.949A>G (p.Lys317Glu) n.1222A>G c.994A>G (p.Lys332Glu) c.1243A>G (p.Lys415Glu) c.1057A>G (p.Lys353Glu) c.895A>G (p.Lys299Glu) c.1204A>G (p.Lys402Glu) c.1039A>G (p.Lys347Glu) c.1288A>G (p.Lys430Glu) c.1102A>G (p.Lys368Glu) n.1219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118808A>T | CA388786702 | F7 | c.1135A>T (p.Lys379Ter) c.1201A>T (p.Lys401Ter) c.949A>T (p.Lys317Ter) n.1222A>T c.994A>T (p.Lys332Ter) c.1243A>T (p.Lys415Ter) c.1057A>T (p.Lys353Ter) c.895A>T (p.Lys299Ter) c.1204A>T (p.Lys402Ter) c.1039A>T (p.Lys347Ter) c.1288A>T (p.Lys430Ter) c.1102A>T (p.Lys368Ter) n.1219A>T | |
13 | g.113118809dup | CA2695218992 | F7 | c.1136dup (p.Asp381GlyfsTer?) c.1202dup (p.Asp403GlyfsTer?) c.950dup (p.Asp319GlyfsTer?) n.1223dup c.995dup (p.Asp334GlyfsTer?) c.1244dup (p.Asp417GlyfsTer?) c.1058dup (p.Asp355GlyfsTer?) c.896dup (p.Asp301GlyfsTer?) c.1205dup (p.Asp404GlyfsTer?) c.1040dup (p.Asp349GlyfsTer?) c.1289dup (p.Asp432GlyfsTer?) c.1103dup (p.Asp370GlyfsTer?) n.1220dup | |
13 | g.113118809A>C | CA388786705 | F7 | c.1136A>C (p.Lys379Thr) c.1202A>C (p.Lys401Thr) c.950A>C (p.Lys317Thr) n.1223A>C c.995A>C (p.Lys332Thr) c.1244A>C (p.Lys415Thr) c.1058A>C (p.Lys353Thr) c.896A>C (p.Lys299Thr) c.1205A>C (p.Lys402Thr) c.1040A>C (p.Lys347Thr) c.1289A>C (p.Lys430Thr) c.1103A>C (p.Lys368Thr) n.1220A>C | |
13 | g.113118809A>G | CA388786706 | F7 | c.1136A>G (p.Lys379Arg) c.1202A>G (p.Lys401Arg) c.950A>G (p.Lys317Arg) n.1223A>G c.995A>G (p.Lys332Arg) c.1244A>G (p.Lys415Arg) c.1058A>G (p.Lys353Arg) c.896A>G (p.Lys299Arg) c.1205A>G (p.Lys402Arg) c.1040A>G (p.Lys347Arg) c.1289A>G (p.Lys430Arg) c.1103A>G (p.Lys368Arg) n.1220A>G | |
13 | g.113118809A>T | CA388786709 | F7 | c.1136A>T (p.Lys379Met) c.1202A>T (p.Lys401Met) c.950A>T (p.Lys317Met) n.1223A>T c.995A>T (p.Lys332Met) c.1244A>T (p.Lys415Met) c.1058A>T (p.Lys353Met) c.896A>T (p.Lys299Met) c.1205A>T (p.Lys402Met) c.1040A>T (p.Lys347Met) c.1289A>T (p.Lys430Met) c.1103A>T (p.Lys368Met) n.1220A>T | |
13 | g.113118812_113118824dup | CA2739291817 | F7 | c.1139_1151dup (p.Pro385GlyfsTer?) c.1205_1217dup (p.Pro407GlyfsTer?) c.953_965dup (p.Pro323GlyfsTer?) n.1226_1238dup c.998_1010dup (p.Pro338GlyfsTer?) c.1247_1259dup (p.Pro421GlyfsTer?) c.1061_1073dup (p.Pro359GlyfsTer?) c.899_911dup (p.Pro305GlyfsTer?) c.1208_1220dup (p.Pro408GlyfsTer?) c.1043_1055dup (p.Pro353GlyfsTer?) c.1292_1304dup (p.Pro436GlyfsTer?) c.1106_1118dup (p.Pro374GlyfsTer?) n.1223_1235dup | |
13 | g.113118810G>A | CA485021189 | F7 | c.1137G>A (p.Lys379=) c.1203G>A (p.Lys401=) c.951G>A (p.Lys317=) n.1224G>A c.996G>A (p.Lys332=) c.1245G>A (p.Lys415=) c.1059G>A (p.Lys353=) c.897G>A (p.Lys299=) c.1206G>A (p.Lys402=) c.1041G>A (p.Lys347=) c.1290G>A (p.Lys430=) c.1104G>A (p.Lys368=) n.1221G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118810G>C | CA388786710 | F7 | c.1137G>C (p.Lys379Asn) c.1203G>C (p.Lys401Asn) c.951G>C (p.Lys317Asn) n.1224G>C c.996G>C (p.Lys332Asn) c.1245G>C (p.Lys415Asn) c.1059G>C (p.Lys353Asn) c.897G>C (p.Lys299Asn) c.1206G>C (p.Lys402Asn) c.1041G>C (p.Lys347Asn) c.1290G>C (p.Lys430Asn) c.1104G>C (p.Lys368Asn) n.1221G>C | |
13 | g.113118810G= | CA2120142716 | F7 | c.1137G= (p.Lys379=) c.1203G= (p.Lys401=) c.951G= (p.Lys317=) n.1224G= c.996G= (p.Lys332=) c.1245G= (p.Lys415=) c.1059G= (p.Lys353=) c.897G= (p.Lys299=) c.1206G= (p.Lys402=) c.1041G= (p.Lys347=) c.1290G= (p.Lys430=) c.1104G= (p.Lys368=) n.1221G= | |
13 | g.113118810G>T | CA388786712 | F7 | c.1137G>T (p.Lys379Asn) c.1203G>T (p.Lys401Asn) c.951G>T (p.Lys317Asn) n.1224G>T c.996G>T (p.Lys332Asn) c.1245G>T (p.Lys415Asn) c.1059G>T (p.Lys353Asn) c.897G>T (p.Lys299Asn) c.1206G>T (p.Lys402Asn) c.1041G>T (p.Lys347Asn) c.1290G>T (p.Lys430Asn) c.1104G>T (p.Lys368Asn) n.1221G>T | |
13 | g.113118811G>A | CA388786716 | F7 | c.1138G>A (p.Gly380Arg) c.1204G>A (p.Gly402Arg) c.952G>A (p.Gly318Arg) n.1225G>A c.997G>A (p.Gly333Arg) c.1246G>A (p.Gly416Arg) c.1060G>A (p.Gly354Arg) c.898G>A (p.Gly300Arg) c.1207G>A (p.Gly403Arg) c.1042G>A (p.Gly348Arg) c.1291G>A (p.Gly431Arg) c.1105G>A (p.Gly369Arg) n.1222G>A | dbSNP |
13 | g.113118811G>C | CA388786718 | F7 | c.1138G>C (p.Gly380Arg) c.1204G>C (p.Gly402Arg) c.952G>C (p.Gly318Arg) n.1225G>C c.997G>C (p.Gly333Arg) c.1246G>C (p.Gly416Arg) c.1060G>C (p.Gly354Arg) c.898G>C (p.Gly300Arg) c.1207G>C (p.Gly403Arg) c.1042G>C (p.Gly348Arg) c.1291G>C (p.Gly431Arg) c.1105G>C (p.Gly369Arg) n.1222G>C | |
13 | g.113118811G>T | CA388786714 | F7 | c.1138G>T (p.Gly380Trp) c.1204G>T (p.Gly402Trp) c.952G>T (p.Gly318Trp) n.1225G>T c.997G>T (p.Gly333Trp) c.1246G>T (p.Gly416Trp) c.1060G>T (p.Gly354Trp) c.898G>T (p.Gly300Trp) c.1207G>T (p.Gly403Trp) c.1042G>T (p.Gly348Trp) c.1291G>T (p.Gly431Trp) c.1105G>T (p.Gly369Trp) n.1222G>T | |
13 | g.113118812G>A | CA388786720 | F7 | c.1139G>A (p.Gly380Glu) c.1205G>A (p.Gly402Glu) c.953G>A (p.Gly318Glu) n.1226G>A c.998G>A (p.Gly333Glu) c.1247G>A (p.Gly416Glu) c.1061G>A (p.Gly354Glu) c.899G>A (p.Gly300Glu) c.1208G>A (p.Gly403Glu) c.1043G>A (p.Gly348Glu) c.1292G>A (p.Gly431Glu) c.1106G>A (p.Gly369Glu) n.1223G>A | |
13 | g.113118812G>C | CA388786721 | F7 | c.1139G>C (p.Gly380Ala) c.1205G>C (p.Gly402Ala) c.953G>C (p.Gly318Ala) n.1226G>C c.998G>C (p.Gly333Ala) c.1247G>C (p.Gly416Ala) c.1061G>C (p.Gly354Ala) c.899G>C (p.Gly300Ala) c.1208G>C (p.Gly403Ala) c.1043G>C (p.Gly348Ala) c.1292G>C (p.Gly431Ala) c.1106G>C (p.Gly369Ala) n.1223G>C | |
13 | g.113118812G>T | CA388786723 | F7 | c.1139G>T (p.Gly380Val) c.1205G>T (p.Gly402Val) c.953G>T (p.Gly318Val) n.1226G>T c.998G>T (p.Gly333Val) c.1247G>T (p.Gly416Val) c.1061G>T (p.Gly354Val) c.899G>T (p.Gly300Val) c.1208G>T (p.Gly403Val) c.1043G>T (p.Gly348Val) c.1292G>T (p.Gly431Val) c.1106G>T (p.Gly369Val) n.1223G>T | |
13 | g.113118813G>A | CA485021190 | F7 | c.1140G>A (p.Gly380=) c.1206G>A (p.Gly402=) c.954G>A (p.Gly318=) n.1227G>A c.999G>A (p.Gly333=) c.1248G>A (p.Gly416=) c.1062G>A (p.Gly354=) c.900G>A (p.Gly300=) c.1209G>A (p.Gly403=) c.1044G>A (p.Gly348=) c.1293G>A (p.Gly431=) c.1107G>A (p.Gly369=) n.1224G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.113118813G>C | CA485021191 | F7 | c.1140G>C (p.Gly380=) c.1206G>C (p.Gly402=) c.954G>C (p.Gly318=) n.1227G>C c.999G>C (p.Gly333=) c.1248G>C (p.Gly416=) c.1062G>C (p.Gly354=) c.900G>C (p.Gly300=) c.1209G>C (p.Gly403=) c.1044G>C (p.Gly348=) c.1293G>C (p.Gly431=) c.1107G>C (p.Gly369=) n.1224G>C | |
13 | g.113118813G= | CA2120142718 | F7 | c.1140G= (p.Gly380=) c.1206G= (p.Gly402=) c.954G= (p.Gly318=) n.1227G= c.999G= (p.Gly333=) c.1248G= (p.Gly416=) c.1062G= (p.Gly354=) c.900G= (p.Gly300=) c.1209G= (p.Gly403=) c.1044G= (p.Gly348=) c.1293G= (p.Gly431=) c.1107G= (p.Gly369=) n.1224G= | |
13 | g.113118813G>T | CA485021192 | F7 | c.1140G>T (p.Gly380=) c.1206G>T (p.Gly402=) c.954G>T (p.Gly318=) n.1227G>T c.999G>T (p.Gly333=) c.1248G>T (p.Gly416=) c.1062G>T (p.Gly354=) c.900G>T (p.Gly300=) c.1209G>T (p.Gly403=) c.1044G>T (p.Gly348=) c.1293G>T (p.Gly431=) c.1107G>T (p.Gly369=) n.1224G>T | |
13 | g.113118814G>A | CA388786725 | F7 | c.1141G>A (p.Asp381Asn) c.1207G>A (p.Asp403Asn) c.955G>A (p.Asp319Asn) n.1228G>A c.1000G>A (p.Asp334Asn) c.1249G>A (p.Asp417Asn) c.1063G>A (p.Asp355Asn) c.901G>A (p.Asp301Asn) c.1210G>A (p.Asp404Asn) c.1045G>A (p.Asp349Asn) c.1294G>A (p.Asp432Asn) c.1108G>A (p.Asp370Asn) n.1225G>A | dbSNP gnomAD v4 |
13 | g.113118814G>C | CA388786727 | F7 | c.1141G>C (p.Asp381His) c.1207G>C (p.Asp403His) c.955G>C (p.Asp319His) n.1228G>C c.1000G>C (p.Asp334His) c.1249G>C (p.Asp417His) c.1063G>C (p.Asp355His) c.901G>C (p.Asp301His) c.1210G>C (p.Asp404His) c.1045G>C (p.Asp349His) c.1294G>C (p.Asp432His) c.1108G>C (p.Asp370His) n.1225G>C | |
13 | g.113118814G= | CA2120142720 | F7 | c.1141G= (p.Asp381=) c.1207G= (p.Asp403=) c.955G= (p.Asp319=) n.1228G= c.1000G= (p.Asp334=) c.1249G= (p.Asp417=) c.1063G= (p.Asp355=) c.901G= (p.Asp301=) c.1210G= (p.Asp404=) c.1045G= (p.Asp349=) c.1294G= (p.Asp432=) c.1108G= (p.Asp370=) n.1225G= | |
13 | g.113118814G>T | CA256461823 | F7 | c.1141G>T (p.Asp381Tyr) c.1207G>T (p.Asp403Tyr) c.955G>T (p.Asp319Tyr) n.1228G>T c.1000G>T (p.Asp334Tyr) c.1249G>T (p.Asp417Tyr) c.1063G>T (p.Asp355Tyr) c.901G>T (p.Asp301Tyr) c.1210G>T (p.Asp404Tyr) c.1045G>T (p.Asp349Tyr) c.1294G>T (p.Asp432Tyr) c.1108G>T (p.Asp370Tyr) n.1225G>T | ClinVar dbSNP gnomAD v2 |
13 | g.113118815A>C | CA388786734 | F7 | c.1142A>C (p.Asp381Ala) c.1208A>C (p.Asp403Ala) c.956A>C (p.Asp319Ala) n.1229A>C c.1001A>C (p.Asp334Ala) c.1250A>C (p.Asp417Ala) c.1064A>C (p.Asp355Ala) c.902A>C (p.Asp301Ala) c.1211A>C (p.Asp404Ala) c.1046A>C (p.Asp349Ala) c.1295A>C (p.Asp432Ala) c.1109A>C (p.Asp370Ala) n.1226A>C | |
13 | g.113118815A>G | CA388786730 | F7 | c.1142A>G (p.Asp381Gly) c.1208A>G (p.Asp403Gly) c.956A>G (p.Asp319Gly) n.1229A>G c.1001A>G (p.Asp334Gly) c.1250A>G (p.Asp417Gly) c.1064A>G (p.Asp355Gly) c.902A>G (p.Asp301Gly) c.1211A>G (p.Asp404Gly) c.1046A>G (p.Asp349Gly) c.1295A>G (p.Asp432Gly) c.1109A>G (p.Asp370Gly) n.1226A>G | |
13 | g.113118815A>T | CA388786732 | F7 | c.1142A>T (p.Asp381Val) c.1208A>T (p.Asp403Val) c.956A>T (p.Asp319Val) n.1229A>T c.1001A>T (p.Asp334Val) c.1250A>T (p.Asp417Val) c.1064A>T (p.Asp355Val) c.902A>T (p.Asp301Val) c.1211A>T (p.Asp404Val) c.1046A>T (p.Asp349Val) c.1295A>T (p.Asp432Val) c.1109A>T (p.Asp370Val) n.1226A>T | |
13 | g.113118816C>A | CA388786736 | F7 | c.1143C>A (p.Asp381Glu) c.1209C>A (p.Asp403Glu) c.957C>A (p.Asp319Glu) n.1230C>A c.1002C>A (p.Asp334Glu) c.1251C>A (p.Asp417Glu) c.1065C>A (p.Asp355Glu) c.903C>A (p.Asp301Glu) c.1212C>A (p.Asp404Glu) c.1047C>A (p.Asp349Glu) c.1296C>A (p.Asp432Glu) c.1110C>A (p.Asp370Glu) n.1227C>A | |
13 | g.113118816C>G | CA388786738 | F7 | c.1143C>G (p.Asp381Glu) c.1209C>G (p.Asp403Glu) c.957C>G (p.Asp319Glu) n.1230C>G c.1002C>G (p.Asp334Glu) c.1251C>G (p.Asp417Glu) c.1065C>G (p.Asp355Glu) c.903C>G (p.Asp301Glu) c.1212C>G (p.Asp404Glu) c.1047C>G (p.Asp349Glu) c.1296C>G (p.Asp432Glu) c.1110C>G (p.Asp370Glu) n.1227C>G | |
13 | g.113118816C>T | CA485021193 | F7 | c.1143C>T (p.Asp381=) c.1209C>T (p.Asp403=) c.957C>T (p.Asp319=) n.1230C>T c.1002C>T (p.Asp334=) c.1251C>T (p.Asp417=) c.1065C>T (p.Asp355=) c.903C>T (p.Asp301=) c.1212C>T (p.Asp404=) c.1047C>T (p.Asp349=) c.1296C>T (p.Asp432=) c.1110C>T (p.Asp370=) n.1227C>T | |
13 | g.113118817A>C | CA388786740 | F7 | c.1144A>C (p.Ser382Arg) c.1210A>C (p.Ser404Arg) c.958A>C (p.Ser320Arg) n.1231A>C c.1003A>C (p.Ser335Arg) c.1252A>C (p.Ser418Arg) c.1066A>C (p.Ser356Arg) c.904A>C (p.Ser302Arg) c.1213A>C (p.Ser405Arg) c.1048A>C (p.Ser350Arg) c.1297A>C (p.Ser433Arg) c.1111A>C (p.Ser371Arg) n.1228A>C | |
13 | g.113118817A>G | CA388786743 | F7 | c.1144A>G (p.Ser382Gly) c.1210A>G (p.Ser404Gly) c.958A>G (p.Ser320Gly) n.1231A>G c.1003A>G (p.Ser335Gly) c.1252A>G (p.Ser418Gly) c.1066A>G (p.Ser356Gly) c.904A>G (p.Ser302Gly) c.1213A>G (p.Ser405Gly) c.1048A>G (p.Ser350Gly) c.1297A>G (p.Ser433Gly) c.1111A>G (p.Ser371Gly) n.1228A>G | |
13 | g.113118817A>T | CA388786745 | F7 | c.1144A>T (p.Ser382Cys) c.1210A>T (p.Ser404Cys) c.958A>T (p.Ser320Cys) n.1231A>T c.1003A>T (p.Ser335Cys) c.1252A>T (p.Ser418Cys) c.1066A>T (p.Ser356Cys) c.904A>T (p.Ser302Cys) c.1213A>T (p.Ser405Cys) c.1048A>T (p.Ser350Cys) c.1297A>T (p.Ser433Cys) c.1111A>T (p.Ser371Cys) n.1228A>T | |
13 | g.113118818G>A | CA388786747 | F7 | c.1145G>A (p.Ser382Asn) c.1211G>A (p.Ser404Asn) c.959G>A (p.Ser320Asn) n.1232G>A c.1004G>A (p.Ser335Asn) c.1253G>A (p.Ser418Asn) c.1067G>A (p.Ser356Asn) c.905G>A (p.Ser302Asn) c.1214G>A (p.Ser405Asn) c.1049G>A (p.Ser350Asn) c.1298G>A (p.Ser433Asn) c.1112G>A (p.Ser371Asn) n.1229G>A | ClinVar gnomAD v4 |
13 | g.113118818G>C | CA388786751 | F7 | c.1145G>C (p.Ser382Thr) c.1211G>C (p.Ser404Thr) c.959G>C (p.Ser320Thr) n.1232G>C c.1004G>C (p.Ser335Thr) c.1253G>C (p.Ser418Thr) c.1067G>C (p.Ser356Thr) c.905G>C (p.Ser302Thr) c.1214G>C (p.Ser405Thr) c.1049G>C (p.Ser350Thr) c.1298G>C (p.Ser433Thr) c.1112G>C (p.Ser371Thr) n.1229G>C | |
13 | g.113118818G>T | CA388786749 | F7 | c.1145G>T (p.Ser382Ile) c.1211G>T (p.Ser404Ile) c.959G>T (p.Ser320Ile) n.1232G>T c.1004G>T (p.Ser335Ile) c.1253G>T (p.Ser418Ile) c.1067G>T (p.Ser356Ile) c.905G>T (p.Ser302Ile) c.1214G>T (p.Ser405Ile) c.1049G>T (p.Ser350Ile) c.1298G>T (p.Ser433Ile) c.1112G>T (p.Ser371Ile) n.1229G>T | dbSNP |
13 | g.113118819T>A | CA388786753 | F7 | c.1146T>A (p.Ser382Arg) c.1212T>A (p.Ser404Arg) c.960T>A (p.Ser320Arg) n.1233T>A c.1005T>A (p.Ser335Arg) c.1254T>A (p.Ser418Arg) c.1068T>A (p.Ser356Arg) c.906T>A (p.Ser302Arg) c.1215T>A (p.Ser405Arg) c.1050T>A (p.Ser350Arg) c.1299T>A (p.Ser433Arg) c.1113T>A (p.Ser371Arg) n.1230T>A | |
13 | g.113118819T>C | CA485021194 | F7 | c.1146T>C (p.Ser382=) c.1212T>C (p.Ser404=) c.960T>C (p.Ser320=) n.1233T>C c.1005T>C (p.Ser335=) c.1254T>C (p.Ser418=) c.1068T>C (p.Ser356=) c.906T>C (p.Ser302=) c.1215T>C (p.Ser405=) c.1050T>C (p.Ser350=) c.1299T>C (p.Ser433=) c.1113T>C (p.Ser371=) n.1230T>C | dbSNP gnomAD v4 |
13 | g.113118819T>G | CA388786755 | F7 | c.1146T>G (p.Ser382Arg) c.1212T>G (p.Ser404Arg) c.960T>G (p.Ser320Arg) n.1233T>G c.1005T>G (p.Ser335Arg) c.1254T>G (p.Ser418Arg) c.1068T>G (p.Ser356Arg) c.906T>G (p.Ser302Arg) c.1215T>G (p.Ser405Arg) c.1050T>G (p.Ser350Arg) c.1299T>G (p.Ser433Arg) c.1113T>G (p.Ser371Arg) n.1230T>G | |
13 | g.113118819T= | CA2120142723 | F7 | c.1146T= (p.Ser382=) c.1212T= (p.Ser404=) c.960T= (p.Ser320=) n.1233T= c.1005T= (p.Ser335=) c.1254T= (p.Ser418=) c.1068T= (p.Ser356=) c.906T= (p.Ser302=) c.1215T= (p.Ser405=) c.1050T= (p.Ser350=) c.1299T= (p.Ser433=) c.1113T= (p.Ser371=) n.1230T= | |
13 | g.113118820G>A | CA388786758 | F7 | c.1147G>A (p.Gly383Arg) c.1213G>A (p.Gly405Arg) c.961G>A (p.Gly321Arg) n.1234G>A c.1006G>A (p.Gly336Arg) c.1255G>A (p.Gly419Arg) c.1069G>A (p.Gly357Arg) c.907G>A (p.Gly303Arg) c.1216G>A (p.Gly406Arg) c.1051G>A (p.Gly351Arg) c.1300G>A (p.Gly434Arg) c.1114G>A (p.Gly372Arg) n.1231G>A | |
13 | g.113118820G>C | CA388786760 | F7 | c.1147G>C (p.Gly383Arg) c.1213G>C (p.Gly405Arg) c.961G>C (p.Gly321Arg) n.1234G>C c.1006G>C (p.Gly336Arg) c.1255G>C (p.Gly419Arg) c.1069G>C (p.Gly357Arg) c.907G>C (p.Gly303Arg) c.1216G>C (p.Gly406Arg) c.1051G>C (p.Gly351Arg) c.1300G>C (p.Gly434Arg) c.1114G>C (p.Gly372Arg) n.1231G>C | |
13 | g.113118820G>T | CA388786762 | F7 | c.1147G>T (p.Gly383Ter) c.1213G>T (p.Gly405Ter) c.961G>T (p.Gly321Ter) n.1234G>T c.1006G>T (p.Gly336Ter) c.1255G>T (p.Gly419Ter) c.1069G>T (p.Gly357Ter) c.907G>T (p.Gly303Ter) c.1216G>T (p.Gly406Ter) c.1051G>T (p.Gly351Ter) c.1300G>T (p.Gly434Ter) c.1114G>T (p.Gly372Ter) n.1231G>T | |
13 | g.113118822_113118824del | CA2800652059 | F7 | c.1149_1151del (p.Gly384del) c.1215_1217del (p.Gly406del) c.963_965del (p.Gly322del) n.1236_1238del c.1008_1010del (p.Gly337del) c.1257_1259del (p.Gly420del) c.1071_1073del (p.Gly358del) c.909_911del (p.Gly304del) c.1218_1220del (p.Gly407del) c.1053_1055del (p.Gly352del) c.1302_1304del (p.Gly435del) c.1116_1118del (p.Gly373del) n.1233_1235del | |
13 | g.113118821G>A | CA388786764 | F7 | c.1148G>A (p.Gly383Glu) c.1214G>A (p.Gly405Glu) c.962G>A (p.Gly321Glu) n.1235G>A c.1007G>A (p.Gly336Glu) c.1256G>A (p.Gly419Glu) c.1070G>A (p.Gly357Glu) c.908G>A (p.Gly303Glu) c.1217G>A (p.Gly406Glu) c.1052G>A (p.Gly351Glu) c.1301G>A (p.Gly434Glu) c.1115G>A (p.Gly372Glu) n.1232G>A | |
13 | g.113118821G>C | CA388786766 | F7 | c.1148G>C (p.Gly383Ala) c.1214G>C (p.Gly405Ala) c.962G>C (p.Gly321Ala) n.1235G>C c.1007G>C (p.Gly336Ala) c.1256G>C (p.Gly419Ala) c.1070G>C (p.Gly357Ala) c.908G>C (p.Gly303Ala) c.1217G>C (p.Gly406Ala) c.1052G>C (p.Gly351Ala) c.1301G>C (p.Gly434Ala) c.1115G>C (p.Gly372Ala) n.1232G>C | |
13 | g.113118821G>T | CA388786768 | F7 | c.1148G>T (p.Gly383Val) c.1214G>T (p.Gly405Val) c.962G>T (p.Gly321Val) n.1235G>T c.1007G>T (p.Gly336Val) c.1256G>T (p.Gly419Val) c.1070G>T (p.Gly357Val) c.908G>T (p.Gly303Val) c.1217G>T (p.Gly406Val) c.1052G>T (p.Gly351Val) c.1301G>T (p.Gly434Val) c.1115G>T (p.Gly372Val) n.1232G>T | |
13 | g.113118822A>C | CA485021195 | F7 | c.1149A>C (p.Gly383=) c.1215A>C (p.Gly405=) c.963A>C (p.Gly321=) n.1236A>C c.1008A>C (p.Gly336=) c.1257A>C (p.Gly419=) c.1071A>C (p.Gly357=) c.909A>C (p.Gly303=) c.1218A>C (p.Gly406=) c.1053A>C (p.Gly351=) c.1302A>C (p.Gly434=) c.1116A>C (p.Gly372=) n.1233A>C | |
13 | g.113118822A>G | CA485021196 | F7 | c.1149A>G (p.Gly383=) c.1215A>G (p.Gly405=) c.963A>G (p.Gly321=) n.1236A>G c.1008A>G (p.Gly336=) c.1257A>G (p.Gly419=) c.1071A>G (p.Gly357=) c.909A>G (p.Gly303=) c.1218A>G (p.Gly406=) c.1053A>G (p.Gly351=) c.1302A>G (p.Gly434=) c.1116A>G (p.Gly372=) n.1233A>G | |
13 | g.113118822A>T | CA485021197 | F7 | c.1149A>T (p.Gly383=) c.1215A>T (p.Gly405=) c.963A>T (p.Gly321=) n.1236A>T c.1008A>T (p.Gly336=) c.1257A>T (p.Gly419=) c.1071A>T (p.Gly357=) c.909A>T (p.Gly303=) c.1218A>T (p.Gly406=) c.1053A>T (p.Gly351=) c.1302A>T (p.Gly434=) c.1116A>T (p.Gly372=) n.1233A>T | |
13 | g.113118823G>A | CA388786769 | F7 | c.1150G>A (p.Gly384Ser) c.1216G>A (p.Gly406Ser) c.964G>A (p.Gly322Ser) n.1237G>A c.1009G>A (p.Gly337Ser) c.1258G>A (p.Gly420Ser) c.1072G>A (p.Gly358Ser) c.910G>A (p.Gly304Ser) c.1219G>A (p.Gly407Ser) c.1054G>A (p.Gly352Ser) c.1303G>A (p.Gly435Ser) c.1117G>A (p.Gly373Ser) n.1234G>A | |
13 | g.113118823G>C | CA388786771 | F7 | c.1150G>C (p.Gly384Arg) c.1216G>C (p.Gly406Arg) c.964G>C (p.Gly322Arg) n.1237G>C c.1009G>C (p.Gly337Arg) c.1258G>C (p.Gly420Arg) c.1072G>C (p.Gly358Arg) c.910G>C (p.Gly304Arg) c.1219G>C (p.Gly407Arg) c.1054G>C (p.Gly352Arg) c.1303G>C (p.Gly435Arg) c.1117G>C (p.Gly373Arg) n.1234G>C | |
13 | g.113118823G>T | CA388786773 | F7 | c.1150G>T (p.Gly384Cys) c.1216G>T (p.Gly406Cys) c.964G>T (p.Gly322Cys) n.1237G>T c.1009G>T (p.Gly337Cys) c.1258G>T (p.Gly420Cys) c.1072G>T (p.Gly358Cys) c.910G>T (p.Gly304Cys) c.1219G>T (p.Gly407Cys) c.1054G>T (p.Gly352Cys) c.1303G>T (p.Gly435Cys) c.1117G>T (p.Gly373Cys) n.1234G>T | |
13 | g.113118824G>A | CA7060240 | F7 | c.1151G>A (p.Gly384Asp) c.1217G>A (p.Gly406Asp) c.965G>A (p.Gly322Asp) n.1238G>A c.1010G>A (p.Gly337Asp) c.1259G>A (p.Gly420Asp) c.1073G>A (p.Gly358Asp) c.911G>A (p.Gly304Asp) c.1220G>A (p.Gly407Asp) c.1055G>A (p.Gly352Asp) c.1304G>A (p.Gly435Asp) c.1118G>A (p.Gly373Asp) n.1235G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118824G>C | CA388786777 | F7 | c.1151G>C (p.Gly384Ala) c.1217G>C (p.Gly406Ala) c.965G>C (p.Gly322Ala) n.1238G>C c.1010G>C (p.Gly337Ala) c.1259G>C (p.Gly420Ala) c.1073G>C (p.Gly358Ala) c.911G>C (p.Gly304Ala) c.1220G>C (p.Gly407Ala) c.1055G>C (p.Gly352Ala) c.1304G>C (p.Gly435Ala) c.1118G>C (p.Gly373Ala) n.1235G>C | |
13 | g.113118824G= | CA2120142727 | F7 | c.1151G= (p.Gly384=) c.1217G= (p.Gly406=) c.965G= (p.Gly322=) n.1238G= c.1010G= (p.Gly337=) c.1259G= (p.Gly420=) c.1073G= (p.Gly358=) c.911G= (p.Gly304=) c.1220G= (p.Gly407=) c.1055G= (p.Gly352=) c.1304G= (p.Gly435=) c.1118G= (p.Gly373=) n.1235G= | |
13 | g.113118824G>T | CA388786775 | F7 | c.1151G>T (p.Gly384Val) c.1217G>T (p.Gly406Val) c.965G>T (p.Gly322Val) n.1238G>T c.1010G>T (p.Gly337Val) c.1259G>T (p.Gly420Val) c.1073G>T (p.Gly358Val) c.911G>T (p.Gly304Val) c.1220G>T (p.Gly407Val) c.1055G>T (p.Gly352Val) c.1304G>T (p.Gly435Val) c.1118G>T (p.Gly373Val) n.1235G>T | |
13 | g.113118825C>A | CA485021198 | F7 | c.1152C>A (p.Gly384=) c.1218C>A (p.Gly406=) c.966C>A (p.Gly322=) n.1239C>A c.1011C>A (p.Gly337=) c.1260C>A (p.Gly420=) c.1074C>A (p.Gly358=) c.912C>A (p.Gly304=) c.1221C>A (p.Gly407=) c.1056C>A (p.Gly352=) c.1305C>A (p.Gly435=) c.1119C>A (p.Gly373=) n.1236C>A | |
13 | g.113118825C>G | CA485021199 | F7 | c.1152C>G (p.Gly384=) c.1218C>G (p.Gly406=) c.966C>G (p.Gly322=) n.1239C>G c.1011C>G (p.Gly337=) c.1260C>G (p.Gly420=) c.1074C>G (p.Gly358=) c.912C>G (p.Gly304=) c.1221C>G (p.Gly407=) c.1056C>G (p.Gly352=) c.1305C>G (p.Gly435=) c.1119C>G (p.Gly373=) n.1236C>G | |
13 | g.113118825C>T | CA485021200 | F7 | c.1152C>T (p.Gly384=) c.1218C>T (p.Gly406=) c.966C>T (p.Gly322=) n.1239C>T c.1011C>T (p.Gly337=) c.1260C>T (p.Gly420=) c.1074C>T (p.Gly358=) c.912C>T (p.Gly304=) c.1221C>T (p.Gly407=) c.1056C>T (p.Gly352=) c.1305C>T (p.Gly435=) c.1119C>T (p.Gly373=) n.1236C>T | |
13 | g.113118826C>A | CA388786779 | F7 | c.1153C>A (p.Pro385Thr) c.1219C>A (p.Pro407Thr) c.967C>A (p.Pro323Thr) n.1240C>A c.1012C>A (p.Pro338Thr) c.1261C>A (p.Pro421Thr) c.1075C>A (p.Pro359Thr) c.913C>A (p.Pro305Thr) c.1222C>A (p.Pro408Thr) c.1057C>A (p.Pro353Thr) c.1306C>A (p.Pro436Thr) c.1120C>A (p.Pro374Thr) n.1237C>A | |
13 | g.113118826C>G | CA388786783 | F7 | c.1153C>G (p.Pro385Ala) c.1219C>G (p.Pro407Ala) c.967C>G (p.Pro323Ala) n.1240C>G c.1012C>G (p.Pro338Ala) c.1261C>G (p.Pro421Ala) c.1075C>G (p.Pro359Ala) c.913C>G (p.Pro305Ala) c.1222C>G (p.Pro408Ala) c.1057C>G (p.Pro353Ala) c.1306C>G (p.Pro436Ala) c.1120C>G (p.Pro374Ala) n.1237C>G | |
13 | g.113118826C>T | CA388786781 | F7 | c.1153C>T (p.Pro385Ser) c.1219C>T (p.Pro407Ser) c.967C>T (p.Pro323Ser) n.1240C>T c.1012C>T (p.Pro338Ser) c.1261C>T (p.Pro421Ser) c.1075C>T (p.Pro359Ser) c.913C>T (p.Pro305Ser) c.1222C>T (p.Pro408Ser) c.1057C>T (p.Pro353Ser) c.1306C>T (p.Pro436Ser) c.1120C>T (p.Pro374Ser) n.1237C>T | |
13 | g.113118827C>A | CA388786785 | F7 | c.1154C>A (p.Pro385Gln) c.1220C>A (p.Pro407Gln) c.968C>A (p.Pro323Gln) n.1241C>A c.1013C>A (p.Pro338Gln) c.1262C>A (p.Pro421Gln) c.1076C>A (p.Pro359Gln) c.914C>A (p.Pro305Gln) c.1223C>A (p.Pro408Gln) c.1058C>A (p.Pro353Gln) c.1307C>A (p.Pro436Gln) c.1121C>A (p.Pro374Gln) n.1238C>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118827C= | CA2120142731 | F7 | c.1154C= (p.Pro385=) c.1220C= (p.Pro407=) c.968C= (p.Pro323=) n.1241C= c.1013C= (p.Pro338=) c.1262C= (p.Pro421=) c.1076C= (p.Pro359=) c.914C= (p.Pro305=) c.1223C= (p.Pro408=) c.1058C= (p.Pro353=) c.1307C= (p.Pro436=) c.1121C= (p.Pro374=) n.1238C= | |
13 | g.113118827C>G | CA388786787 | F7 | c.1154C>G (p.Pro385Arg) c.1220C>G (p.Pro407Arg) c.968C>G (p.Pro323Arg) n.1241C>G c.1013C>G (p.Pro338Arg) c.1262C>G (p.Pro421Arg) c.1076C>G (p.Pro359Arg) c.914C>G (p.Pro305Arg) c.1223C>G (p.Pro408Arg) c.1058C>G (p.Pro353Arg) c.1307C>G (p.Pro436Arg) c.1121C>G (p.Pro374Arg) n.1238C>G | |
13 | g.113118827C>T | CA388786789 | F7 | c.1154C>T (p.Pro385Leu) c.1220C>T (p.Pro407Leu) c.968C>T (p.Pro323Leu) n.1241C>T c.1013C>T (p.Pro338Leu) c.1262C>T (p.Pro421Leu) c.1076C>T (p.Pro359Leu) c.914C>T (p.Pro305Leu) c.1223C>T (p.Pro408Leu) c.1058C>T (p.Pro353Leu) c.1307C>T (p.Pro436Leu) c.1121C>T (p.Pro374Leu) n.1238C>T | |
13 | g.113118828A= | CA2120142734 | F7 | c.1155A= (p.Pro385=) c.1221A= (p.Pro407=) c.969A= (p.Pro323=) n.1242A= c.1014A= (p.Pro338=) c.1263A= (p.Pro421=) c.1077A= (p.Pro359=) c.915A= (p.Pro305=) c.1224A= (p.Pro408=) c.1059A= (p.Pro353=) c.1308A= (p.Pro436=) c.1122A= (p.Pro374=) n.1239A= | |
13 | g.113118828A>C | CA485021201 | F7 | c.1155A>C (p.Pro385=) c.1221A>C (p.Pro407=) c.969A>C (p.Pro323=) n.1242A>C c.1014A>C (p.Pro338=) c.1263A>C (p.Pro421=) c.1077A>C (p.Pro359=) c.915A>C (p.Pro305=) c.1224A>C (p.Pro408=) c.1059A>C (p.Pro353=) c.1308A>C (p.Pro436=) c.1122A>C (p.Pro374=) n.1239A>C | dbSNP gnomAD v2 |
13 | g.113118828A>G | CA485021203 | F7 | c.1155A>G (p.Pro385=) c.1221A>G (p.Pro407=) c.969A>G (p.Pro323=) n.1242A>G c.1014A>G (p.Pro338=) c.1263A>G (p.Pro421=) c.1077A>G (p.Pro359=) c.915A>G (p.Pro305=) c.1224A>G (p.Pro408=) c.1059A>G (p.Pro353=) c.1308A>G (p.Pro436=) c.1122A>G (p.Pro374=) n.1239A>G | |
13 | g.113118828A>T | CA485021202 | F7 | c.1155A>T (p.Pro385=) c.1221A>T (p.Pro407=) c.969A>T (p.Pro323=) n.1242A>T c.1014A>T (p.Pro338=) c.1263A>T (p.Pro421=) c.1077A>T (p.Pro359=) c.915A>T (p.Pro305=) c.1224A>T (p.Pro408=) c.1059A>T (p.Pro353=) c.1308A>T (p.Pro436=) c.1122A>T (p.Pro374=) n.1239A>T | |
13 | g.113118829C>A | CA388786790 | F7 | c.1156C>A (p.His386Asn) c.1222C>A (p.His408Asn) c.970C>A (p.His324Asn) n.1243C>A c.1015C>A (p.His339Asn) c.1264C>A (p.His422Asn) c.1078C>A (p.His360Asn) c.916C>A (p.His306Asn) c.1225C>A (p.His409Asn) c.1060C>A (p.His354Asn) c.1309C>A (p.His437Asn) c.1123C>A (p.His375Asn) n.1240C>A | |
13 | g.113118829C>G | CA388786792 | F7 | c.1156C>G (p.His386Asp) c.1222C>G (p.His408Asp) c.970C>G (p.His324Asp) n.1243C>G c.1015C>G (p.His339Asp) c.1264C>G (p.His422Asp) c.1078C>G (p.His360Asp) c.916C>G (p.His306Asp) c.1225C>G (p.His409Asp) c.1060C>G (p.His354Asp) c.1309C>G (p.His437Asp) c.1123C>G (p.His375Asp) n.1240C>G | |
13 | g.113118829C>T | CA388786794 | F7 | c.1156C>T (p.His386Tyr) c.1222C>T (p.His408Tyr) c.970C>T (p.His324Tyr) n.1243C>T c.1015C>T (p.His339Tyr) c.1264C>T (p.His422Tyr) c.1078C>T (p.His360Tyr) c.916C>T (p.His306Tyr) c.1225C>T (p.His409Tyr) c.1060C>T (p.His354Tyr) c.1309C>T (p.His437Tyr) c.1123C>T (p.His375Tyr) n.1240C>T | gnomAD v4 COSMIC |
13 | g.113118830A= | CA2120142742 | F7 | c.1157A= (p.His386=) c.1223A= (p.His408=) c.971A= (p.His324=) n.1244A= c.1016A= (p.His339=) c.1265A= (p.His422=) c.1079A= (p.His360=) c.917A= (p.His306=) c.1226A= (p.His409=) c.1061A= (p.His354=) c.1310A= (p.His437=) c.1124A= (p.His375=) n.1241A= | |
13 | g.113118830A>C | CA388786796 | F7 | c.1157A>C (p.His386Pro) c.1223A>C (p.His408Pro) c.971A>C (p.His324Pro) n.1244A>C c.1016A>C (p.His339Pro) c.1265A>C (p.His422Pro) c.1079A>C (p.His360Pro) c.917A>C (p.His306Pro) c.1226A>C (p.His409Pro) c.1061A>C (p.His354Pro) c.1310A>C (p.His437Pro) c.1124A>C (p.His375Pro) n.1241A>C | |
13 | g.113118830A>G | CA388786799 | F7 | c.1157A>G (p.His386Arg) c.1223A>G (p.His408Arg) c.971A>G (p.His324Arg) n.1244A>G c.1016A>G (p.His339Arg) c.1265A>G (p.His422Arg) c.1079A>G (p.His360Arg) c.917A>G (p.His306Arg) c.1226A>G (p.His409Arg) c.1061A>G (p.His354Arg) c.1310A>G (p.His437Arg) c.1124A>G (p.His375Arg) n.1241A>G | dbSNP gnomAD v4 |
13 | g.113118830A>T | CA388786801 | F7 | c.1157A>T (p.His386Leu) c.1223A>T (p.His408Leu) c.971A>T (p.His324Leu) n.1244A>T c.1016A>T (p.His339Leu) c.1265A>T (p.His422Leu) c.1079A>T (p.His360Leu) c.917A>T (p.His306Leu) c.1226A>T (p.His409Leu) c.1061A>T (p.His354Leu) c.1310A>T (p.His437Leu) c.1124A>T (p.His375Leu) n.1241A>T | |
13 | g.113118830_113118831del | CA2623809295 | F7 | c.1157_1158del (p.His386ArgfsTer?) c.1223_1224del (p.His408ArgfsTer?) c.971_972del (p.His324ArgfsTer?) n.1244_1245del c.1016_1017del (p.His339ArgfsTer?) c.1265_1266del (p.His422ArgfsTer?) c.1079_1080del (p.His360ArgfsTer?) c.917_918del (p.His306ArgfsTer?) c.1226_1227del (p.His409ArgfsTer?) c.1061_1062del (p.His354ArgfsTer?) c.1310_1311del (p.His437ArgfsTer?) c.1124_1125del (p.His375ArgfsTer?) n.1241_1242del | gnomAD v4 |
13 | g.113118831T>A | CA388786802 | F7 | c.1158T>A (p.His386Gln) c.1224T>A (p.His408Gln) c.972T>A (p.His324Gln) n.1245T>A c.1017T>A (p.His339Gln) c.1266T>A (p.His422Gln) c.1080T>A (p.His360Gln) c.918T>A (p.His306Gln) c.1227T>A (p.His409Gln) c.1062T>A (p.His354Gln) c.1311T>A (p.His437Gln) c.1125T>A (p.His375Gln) n.1242T>A | gnomAD v4 |
13 | g.113118831T>C | CA485021204 | F7 | c.1158T>C (p.His386=) c.1224T>C (p.His408=) c.972T>C (p.His324=) n.1245T>C c.1017T>C (p.His339=) c.1266T>C (p.His422=) c.1080T>C (p.His360=) c.918T>C (p.His306=) c.1227T>C (p.His409=) c.1062T>C (p.His354=) c.1311T>C (p.His437=) c.1125T>C (p.His375=) n.1242T>C | |
13 | g.113118831T>G | CA121870 | F7 | c.1158T>G (p.His386Gln) c.1224T>G (p.His408Gln) c.972T>G (p.His324Gln) n.1245T>G c.1017T>G (p.His339Gln) c.1266T>G (p.His422Gln) c.1080T>G (p.His360Gln) c.918T>G (p.His306Gln) c.1227T>G (p.His409Gln) c.1062T>G (p.His354Gln) c.1311T>G (p.His437Gln) c.1125T>G (p.His375Gln) n.1242T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118831T= | CA2120142748 | F7 | c.1158T= (p.His386=) c.1224T= (p.His408=) c.972T= (p.His324=) n.1245T= c.1017T= (p.His339=) c.1266T= (p.His422=) c.1080T= (p.His360=) c.918T= (p.His306=) c.1227T= (p.His409=) c.1062T= (p.His354=) c.1311T= (p.His437=) c.1125T= (p.His375=) n.1242T= | |
13 | g.113118832G>A | CA388786809 | F7 | c.1159G>A (p.Ala387Thr) c.1225G>A (p.Ala409Thr) c.973G>A (p.Ala325Thr) n.1246G>A c.1018G>A (p.Ala340Thr) c.1267G>A (p.Ala423Thr) c.1081G>A (p.Ala361Thr) c.919G>A (p.Ala307Thr) c.1228G>A (p.Ala410Thr) c.1063G>A (p.Ala355Thr) c.1312G>A (p.Ala438Thr) c.1126G>A (p.Ala376Thr) n.1243G>A | |
13 | g.113118832G>C | CA388786807 | F7 | c.1159G>C (p.Ala387Pro) c.1225G>C (p.Ala409Pro) c.973G>C (p.Ala325Pro) n.1246G>C c.1018G>C (p.Ala340Pro) c.1267G>C (p.Ala423Pro) c.1081G>C (p.Ala361Pro) c.919G>C (p.Ala307Pro) c.1228G>C (p.Ala410Pro) c.1063G>C (p.Ala355Pro) c.1312G>C (p.Ala438Pro) c.1126G>C (p.Ala376Pro) n.1243G>C | |
13 | g.113118832G>T | CA388786805 | F7 | c.1159G>T (p.Ala387Ser) c.1225G>T (p.Ala409Ser) c.973G>T (p.Ala325Ser) n.1246G>T c.1018G>T (p.Ala340Ser) c.1267G>T (p.Ala423Ser) c.1081G>T (p.Ala361Ser) c.919G>T (p.Ala307Ser) c.1228G>T (p.Ala410Ser) c.1063G>T (p.Ala355Ser) c.1312G>T (p.Ala438Ser) c.1126G>T (p.Ala376Ser) n.1243G>T | |
13 | g.113118833C>A | CA388786811 | F7 | c.1160C>A (p.Ala387Asp) c.1226C>A (p.Ala409Asp) c.974C>A (p.Ala325Asp) n.1247C>A c.1019C>A (p.Ala340Asp) c.1268C>A (p.Ala423Asp) c.1082C>A (p.Ala361Asp) c.920C>A (p.Ala307Asp) c.1229C>A (p.Ala410Asp) c.1064C>A (p.Ala355Asp) c.1313C>A (p.Ala438Asp) c.1127C>A (p.Ala376Asp) n.1244C>A | |
13 | g.113118833C= | CA2120142752 | F7 | c.1160C= (p.Ala387=) c.1226C= (p.Ala409=) c.974C= (p.Ala325=) n.1247C= c.1019C= (p.Ala340=) c.1268C= (p.Ala423=) c.1082C= (p.Ala361=) c.920C= (p.Ala307=) c.1229C= (p.Ala410=) c.1064C= (p.Ala355=) c.1313C= (p.Ala438=) c.1127C= (p.Ala376=) n.1244C= | |
13 | g.113118833C>G | CA388786813 | F7 | c.1160C>G (p.Ala387Gly) c.1226C>G (p.Ala409Gly) c.974C>G (p.Ala325Gly) n.1247C>G c.1019C>G (p.Ala340Gly) c.1268C>G (p.Ala423Gly) c.1082C>G (p.Ala361Gly) c.920C>G (p.Ala307Gly) c.1229C>G (p.Ala410Gly) c.1064C>G (p.Ala355Gly) c.1313C>G (p.Ala438Gly) c.1127C>G (p.Ala376Gly) n.1244C>G | |
13 | g.113118833C>T | CA388786814 | F7 | c.1160C>T (p.Ala387Val) c.1226C>T (p.Ala409Val) c.974C>T (p.Ala325Val) n.1247C>T c.1019C>T (p.Ala340Val) c.1268C>T (p.Ala423Val) c.1082C>T (p.Ala361Val) c.920C>T (p.Ala307Val) c.1229C>T (p.Ala410Val) c.1064C>T (p.Ala355Val) c.1313C>T (p.Ala438Val) c.1127C>T (p.Ala376Val) n.1244C>T | dbSNP gnomAD v2 |
13 | g.113118834C>A | CA485021207 | F7 | c.1161C>A (p.Ala387=) c.1227C>A (p.Ala409=) c.975C>A (p.Ala325=) n.1248C>A c.1020C>A (p.Ala340=) c.1269C>A (p.Ala423=) c.1083C>A (p.Ala361=) c.921C>A (p.Ala307=) c.1230C>A (p.Ala410=) c.1065C>A (p.Ala355=) c.1314C>A (p.Ala438=) c.1128C>A (p.Ala376=) n.1245C>A | |
13 | g.113118834C>G | CA485021206 | F7 | c.1161C>G (p.Ala387=) c.1227C>G (p.Ala409=) c.975C>G (p.Ala325=) n.1248C>G c.1020C>G (p.Ala340=) c.1269C>G (p.Ala423=) c.1083C>G (p.Ala361=) c.921C>G (p.Ala307=) c.1230C>G (p.Ala410=) c.1065C>G (p.Ala355=) c.1314C>G (p.Ala438=) c.1128C>G (p.Ala376=) n.1245C>G | |
13 | g.113118834C>T | CA485021205 | F7 | c.1161C>T (p.Ala387=) c.1227C>T (p.Ala409=) c.975C>T (p.Ala325=) n.1248C>T c.1020C>T (p.Ala340=) c.1269C>T (p.Ala423=) c.1083C>T (p.Ala361=) c.921C>T (p.Ala307=) c.1230C>T (p.Ala410=) c.1065C>T (p.Ala355=) c.1314C>T (p.Ala438=) c.1128C>T (p.Ala376=) n.1245C>T | |
13 | g.113118835A= | CA2120142757 | F7 | c.1162A= (p.Thr388=) c.1228A= (p.Thr410=) c.976A= (p.Thr326=) n.1249A= c.1021A= (p.Thr341=) c.1270A= (p.Thr424=) c.1084A= (p.Thr362=) c.922A= (p.Thr308=) c.1231A= (p.Thr411=) c.1066A= (p.Thr356=) c.1315A= (p.Thr439=) c.1129A= (p.Thr377=) n.1246A= | |
13 | g.113118835A>C | CA388786817 | F7 | c.1162A>C (p.Thr388Pro) c.1228A>C (p.Thr410Pro) c.976A>C (p.Thr326Pro) n.1249A>C c.1021A>C (p.Thr341Pro) c.1270A>C (p.Thr424Pro) c.1084A>C (p.Thr362Pro) c.922A>C (p.Thr308Pro) c.1231A>C (p.Thr411Pro) c.1066A>C (p.Thr356Pro) c.1315A>C (p.Thr439Pro) c.1129A>C (p.Thr377Pro) n.1246A>C | gnomAD v4 |
13 | g.113118835A>G | CA388786818 | F7 | c.1162A>G (p.Thr388Ala) c.1228A>G (p.Thr410Ala) c.976A>G (p.Thr326Ala) n.1249A>G c.1021A>G (p.Thr341Ala) c.1270A>G (p.Thr424Ala) c.1084A>G (p.Thr362Ala) c.922A>G (p.Thr308Ala) c.1231A>G (p.Thr411Ala) c.1066A>G (p.Thr356Ala) c.1315A>G (p.Thr439Ala) c.1129A>G (p.Thr377Ala) n.1246A>G | dbSNP gnomAD v4 |
13 | g.113118835A>T | CA388786820 | F7 | c.1162A>T (p.Thr388Ser) c.1228A>T (p.Thr410Ser) c.976A>T (p.Thr326Ser) n.1249A>T c.1021A>T (p.Thr341Ser) c.1270A>T (p.Thr424Ser) c.1084A>T (p.Thr362Ser) c.922A>T (p.Thr308Ser) c.1231A>T (p.Thr411Ser) c.1066A>T (p.Thr356Ser) c.1315A>T (p.Thr439Ser) c.1129A>T (p.Thr377Ser) n.1246A>T | |
13 | g.113118835_113118836delinsAC | CA2120142756 | F7 | c.1162_1163delinsAC (p.Thr388=) c.1228_1229delinsAC (p.Thr410=) c.976_977delinsAC (p.Thr326=) n.1249_1250delinsAC c.1021_1022delinsAC (p.Thr341=) c.1270_1271delinsAC (p.Thr424=) c.1084_1085delinsAC (p.Thr362=) c.922_923delinsAC (p.Thr308=) c.1231_1232delinsAC (p.Thr411=) c.1066_1067delinsAC (p.Thr356=) c.1315_1316delinsAC (p.Thr439=) c.1129_1130delinsAC (p.Thr377=) n.1246_1247delinsAC | |
13 | g.113118836C>A | CA388786823 | F7 | c.1163C>A (p.Thr388Asn) c.1229C>A (p.Thr410Asn) c.977C>A (p.Thr326Asn) n.1250C>A c.1022C>A (p.Thr341Asn) c.1271C>A (p.Thr424Asn) c.1085C>A (p.Thr362Asn) c.923C>A (p.Thr308Asn) c.1232C>A (p.Thr411Asn) c.1067C>A (p.Thr356Asn) c.1316C>A (p.Thr439Asn) c.1130C>A (p.Thr377Asn) n.1247C>A | |
13 | g.113118836C>G | CA388786825 | F7 | c.1163C>G (p.Thr388Ser) c.1229C>G (p.Thr410Ser) c.977C>G (p.Thr326Ser) n.1250C>G c.1022C>G (p.Thr341Ser) c.1271C>G (p.Thr424Ser) c.1085C>G (p.Thr362Ser) c.923C>G (p.Thr308Ser) c.1232C>G (p.Thr411Ser) c.1067C>G (p.Thr356Ser) c.1316C>G (p.Thr439Ser) c.1130C>G (p.Thr377Ser) n.1247C>G | |
13 | g.113118836C>T | CA388786827 | F7 | c.1163C>T (p.Thr388Ile) c.1229C>T (p.Thr410Ile) c.977C>T (p.Thr326Ile) n.1250C>T c.1022C>T (p.Thr341Ile) c.1271C>T (p.Thr424Ile) c.1085C>T (p.Thr362Ile) c.923C>T (p.Thr308Ile) c.1232C>T (p.Thr411Ile) c.1067C>T (p.Thr356Ile) c.1316C>T (p.Thr439Ile) c.1130C>T (p.Thr377Ile) n.1247C>T | |
13 | g.113118838dup | CA2120142765 | F7 | c.1165dup (p.His389ProfsTer?) c.1231dup (p.His411ProfsTer?) c.979dup (p.His327ProfsTer?) n.1252dup c.1024dup (p.His342ProfsTer?) c.1273dup (p.His425ProfsTer?) c.1087dup (p.His363ProfsTer?) c.925dup (p.His309ProfsTer?) c.1234dup (p.His412ProfsTer?) c.1069dup (p.His357ProfsTer?) c.1318dup (p.His440ProfsTer?) c.1132dup (p.His378ProfsTer?) n.1249dup | dbSNP |
13 | g.113118838del | CA612868381 | F7 | c.1165del (p.His389ThrfsTer8) c.1231del (p.His411ThrfsTer8) c.979del (p.His327ThrfsTer8) n.1252del c.1024del (p.His342ThrfsTer8) c.1273del (p.His425ThrfsTer8) c.1087del (p.His363ThrfsTer8) c.925del (p.His309ThrfsTer8) c.1234del (p.His412ThrfsTer8) c.1069del (p.His357ThrfsTer8) c.1318del (p.His440ThrfsTer8) c.1132del (p.His378ThrfsTer8) n.1249del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118837C>A | CA485021210 | F7 | c.1164C>A (p.Thr388=) c.1230C>A (p.Thr410=) c.978C>A (p.Thr326=) n.1251C>A c.1023C>A (p.Thr341=) c.1272C>A (p.Thr424=) c.1086C>A (p.Thr362=) c.924C>A (p.Thr308=) c.1233C>A (p.Thr411=) c.1068C>A (p.Thr356=) c.1317C>A (p.Thr439=) c.1131C>A (p.Thr377=) n.1248C>A | |
13 | g.113118837C>G | CA485021209 | F7 | c.1164C>G (p.Thr388=) c.1230C>G (p.Thr410=) c.978C>G (p.Thr326=) n.1251C>G c.1023C>G (p.Thr341=) c.1272C>G (p.Thr424=) c.1086C>G (p.Thr362=) c.924C>G (p.Thr308=) c.1233C>G (p.Thr411=) c.1068C>G (p.Thr356=) c.1317C>G (p.Thr439=) c.1131C>G (p.Thr377=) n.1248C>G | |
13 | g.113118837C>T | CA485021208 | F7 | c.1164C>T (p.Thr388=) c.1230C>T (p.Thr410=) c.978C>T (p.Thr326=) n.1251C>T c.1023C>T (p.Thr341=) c.1272C>T (p.Thr424=) c.1086C>T (p.Thr362=) c.924C>T (p.Thr308=) c.1233C>T (p.Thr411=) c.1068C>T (p.Thr356=) c.1317C>T (p.Thr439=) c.1131C>T (p.Thr377=) n.1248C>T | |
13 | g.113118838C>A | CA388786829 | F7 | c.1165C>A (p.His389Asn) c.1231C>A (p.His411Asn) c.979C>A (p.His327Asn) n.1252C>A c.1024C>A (p.His342Asn) c.1273C>A (p.His425Asn) c.1087C>A (p.His363Asn) c.925C>A (p.His309Asn) c.1234C>A (p.His412Asn) c.1069C>A (p.His357Asn) c.1318C>A (p.His440Asn) c.1132C>A (p.His378Asn) n.1249C>A | |
13 | g.113118838C>G | CA388786830 | F7 | c.1165C>G (p.His389Asp) c.1231C>G (p.His411Asp) c.979C>G (p.His327Asp) n.1252C>G c.1024C>G (p.His342Asp) c.1273C>G (p.His425Asp) c.1087C>G (p.His363Asp) c.925C>G (p.His309Asp) c.1234C>G (p.His412Asp) c.1069C>G (p.His357Asp) c.1318C>G (p.His440Asp) c.1132C>G (p.His378Asp) n.1249C>G | |
13 | g.113118838C>T | CA388786832 | F7 | c.1165C>T (p.His389Tyr) c.1231C>T (p.His411Tyr) c.979C>T (p.His327Tyr) n.1252C>T c.1024C>T (p.His342Tyr) c.1273C>T (p.His425Tyr) c.1087C>T (p.His363Tyr) c.925C>T (p.His309Tyr) c.1234C>T (p.His412Tyr) c.1069C>T (p.His357Tyr) c.1318C>T (p.His440Tyr) c.1132C>T (p.His378Tyr) n.1249C>T | |
13 | g.113118839A= | CA2120142771 | F7 | c.1166A= (p.His389=) c.1232A= (p.His411=) c.980A= (p.His327=) n.1253A= c.1025A= (p.His342=) c.1274A= (p.His425=) c.1088A= (p.His363=) c.926A= (p.His309=) c.1235A= (p.His412=) c.1070A= (p.His357=) c.1319A= (p.His440=) c.1133A= (p.His378=) n.1250A= | |
13 | g.113118839A>C | CA388786838 | F7 | c.1166A>C (p.His389Pro) c.1232A>C (p.His411Pro) c.980A>C (p.His327Pro) n.1253A>C c.1025A>C (p.His342Pro) c.1274A>C (p.His425Pro) c.1088A>C (p.His363Pro) c.926A>C (p.His309Pro) c.1235A>C (p.His412Pro) c.1070A>C (p.His357Pro) c.1319A>C (p.His440Pro) c.1133A>C (p.His378Pro) n.1250A>C | |
13 | g.113118839A>G | CA388786836 | F7 | c.1166A>G (p.His389Arg) c.1232A>G (p.His411Arg) c.980A>G (p.His327Arg) n.1253A>G c.1025A>G (p.His342Arg) c.1274A>G (p.His425Arg) c.1088A>G (p.His363Arg) c.926A>G (p.His309Arg) c.1235A>G (p.His412Arg) c.1070A>G (p.His357Arg) c.1319A>G (p.His440Arg) c.1133A>G (p.His378Arg) n.1250A>G | dbSNP |
13 | g.113118839A>T | CA388786834 | F7 | c.1166A>T (p.His389Leu) c.1232A>T (p.His411Leu) c.980A>T (p.His327Leu) n.1253A>T c.1025A>T (p.His342Leu) c.1274A>T (p.His425Leu) c.1088A>T (p.His363Leu) c.926A>T (p.His309Leu) c.1235A>T (p.His412Leu) c.1070A>T (p.His357Leu) c.1319A>T (p.His440Leu) c.1133A>T (p.His378Leu) n.1250A>T | |
13 | g.113118840C>A | CA388786842 | F7 | c.1167C>A (p.His389Gln) c.1233C>A (p.His411Gln) c.981C>A (p.His327Gln) n.1254C>A c.1026C>A (p.His342Gln) c.1275C>A (p.His425Gln) c.1089C>A (p.His363Gln) c.927C>A (p.His309Gln) c.1236C>A (p.His412Gln) c.1071C>A (p.His357Gln) c.1320C>A (p.His440Gln) c.1134C>A (p.His378Gln) n.1251C>A | |
13 | g.113118840C= | CA2120142779 | F7 | c.1167C= (p.His389=) c.1233C= (p.His411=) c.981C= (p.His327=) n.1254C= c.1026C= (p.His342=) c.1275C= (p.His425=) c.1089C= (p.His363=) c.927C= (p.His309=) c.1236C= (p.His412=) c.1071C= (p.His357=) c.1320C= (p.His440=) c.1134C= (p.His378=) n.1251C= | |
13 | g.113118840C>G | CA7060241 | F7 | c.1167C>G (p.His389Gln) c.1233C>G (p.His411Gln) c.981C>G (p.His327Gln) n.1254C>G c.1026C>G (p.His342Gln) c.1275C>G (p.His425Gln) c.1089C>G (p.His363Gln) c.927C>G (p.His309Gln) c.1236C>G (p.His412Gln) c.1071C>G (p.His357Gln) c.1320C>G (p.His440Gln) c.1134C>G (p.His378Gln) n.1251C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118840C>T | CA7060242 | F7 | c.1167C>T (p.His389=) c.1233C>T (p.His411=) c.981C>T (p.His327=) n.1254C>T c.1026C>T (p.His342=) c.1275C>T (p.His425=) c.1089C>T (p.His363=) c.927C>T (p.His309=) c.1236C>T (p.His412=) c.1071C>T (p.His357=) c.1320C>T (p.His440=) c.1134C>T (p.His378=) n.1251C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118841T>A | CA388786844 | F7 | c.1168T>A (p.Tyr390Asn) c.1234T>A (p.Tyr412Asn) c.982T>A (p.Tyr328Asn) n.1255T>A c.1027T>A (p.Tyr343Asn) c.1276T>A (p.Tyr426Asn) c.1090T>A (p.Tyr364Asn) c.928T>A (p.Tyr310Asn) c.1237T>A (p.Tyr413Asn) c.1072T>A (p.Tyr358Asn) c.1321T>A (p.Tyr441Asn) c.1135T>A (p.Tyr379Asn) n.1252T>A | |
13 | g.113118841T>C | CA388786846 | F7 | c.1168T>C (p.Tyr390His) c.1234T>C (p.Tyr412His) c.982T>C (p.Tyr328His) n.1255T>C c.1027T>C (p.Tyr343His) c.1276T>C (p.Tyr426His) c.1090T>C (p.Tyr364His) c.928T>C (p.Tyr310His) c.1237T>C (p.Tyr413His) c.1072T>C (p.Tyr358His) c.1321T>C (p.Tyr441His) c.1135T>C (p.Tyr379His) n.1252T>C | |
13 | g.113118841T>G | CA388786847 | F7 | c.1168T>G (p.Tyr390Asp) c.1234T>G (p.Tyr412Asp) c.982T>G (p.Tyr328Asp) n.1255T>G c.1027T>G (p.Tyr343Asp) c.1276T>G (p.Tyr426Asp) c.1090T>G (p.Tyr364Asp) c.928T>G (p.Tyr310Asp) c.1237T>G (p.Tyr413Asp) c.1072T>G (p.Tyr358Asp) c.1321T>G (p.Tyr441Asp) c.1135T>G (p.Tyr379Asp) n.1252T>G | |
13 | g.113118842A>C | CA388786850 | F7 | c.1169A>C (p.Tyr390Ser) c.1235A>C (p.Tyr412Ser) c.983A>C (p.Tyr328Ser) n.1256A>C c.1028A>C (p.Tyr343Ser) c.1277A>C (p.Tyr426Ser) c.1091A>C (p.Tyr364Ser) c.929A>C (p.Tyr310Ser) c.1238A>C (p.Tyr413Ser) c.1073A>C (p.Tyr358Ser) c.1322A>C (p.Tyr441Ser) c.1136A>C (p.Tyr379Ser) n.1253A>C | |
13 | g.113118842A>G | CA388786852 | F7 | c.1169A>G (p.Tyr390Cys) c.1235A>G (p.Tyr412Cys) c.983A>G (p.Tyr328Cys) n.1256A>G c.1028A>G (p.Tyr343Cys) c.1277A>G (p.Tyr426Cys) c.1091A>G (p.Tyr364Cys) c.929A>G (p.Tyr310Cys) c.1238A>G (p.Tyr413Cys) c.1073A>G (p.Tyr358Cys) c.1322A>G (p.Tyr441Cys) c.1136A>G (p.Tyr379Cys) n.1253A>G | gnomAD v4 |
13 | g.113118842A>T | CA388786853 | F7 | c.1169A>T (p.Tyr390Phe) c.1235A>T (p.Tyr412Phe) c.983A>T (p.Tyr328Phe) n.1256A>T c.1028A>T (p.Tyr343Phe) c.1277A>T (p.Tyr426Phe) c.1091A>T (p.Tyr364Phe) c.929A>T (p.Tyr310Phe) c.1238A>T (p.Tyr413Phe) c.1073A>T (p.Tyr358Phe) c.1322A>T (p.Tyr441Phe) c.1136A>T (p.Tyr379Phe) n.1253A>T | |
13 | g.113118843C>A | CA388786855 | F7 | c.1170C>A (p.Tyr390Ter) c.1236C>A (p.Tyr412Ter) c.984C>A (p.Tyr328Ter) n.1257C>A c.1029C>A (p.Tyr343Ter) c.1278C>A (p.Tyr426Ter) c.1092C>A (p.Tyr364Ter) c.930C>A (p.Tyr310Ter) c.1239C>A (p.Tyr413Ter) c.1074C>A (p.Tyr358Ter) c.1323C>A (p.Tyr441Ter) c.1137C>A (p.Tyr379Ter) n.1254C>A | |
13 | g.113118843C>G | CA388786857 | F7 | c.1170C>G (p.Tyr390Ter) c.1236C>G (p.Tyr412Ter) c.984C>G (p.Tyr328Ter) n.1257C>G c.1029C>G (p.Tyr343Ter) c.1278C>G (p.Tyr426Ter) c.1092C>G (p.Tyr364Ter) c.930C>G (p.Tyr310Ter) c.1239C>G (p.Tyr413Ter) c.1074C>G (p.Tyr358Ter) c.1323C>G (p.Tyr441Ter) c.1137C>G (p.Tyr379Ter) n.1254C>G | |
13 | g.113118843C>T | CA485021211 | F7 | c.1170C>T (p.Tyr390=) c.1236C>T (p.Tyr412=) c.984C>T (p.Tyr328=) n.1257C>T c.1029C>T (p.Tyr343=) c.1278C>T (p.Tyr426=) c.1092C>T (p.Tyr364=) c.930C>T (p.Tyr310=) c.1239C>T (p.Tyr413=) c.1074C>T (p.Tyr358=) c.1323C>T (p.Tyr441=) c.1137C>T (p.Tyr379=) n.1254C>T | gnomAD v4 |
13 | g.113118844C>A | CA485021212 | F7 | c.1171C>A (p.Arg391=) c.1237C>A (p.Arg413=) c.985C>A (p.Arg329=) n.1258C>A c.1030C>A (p.Arg344=) c.1279C>A (p.Arg427=) c.1093C>A (p.Arg365=) c.931C>A (p.Arg311=) c.1240C>A (p.Arg414=) c.1075C>A (p.Arg359=) c.1324C>A (p.Arg442=) c.1138C>A (p.Arg380=) n.1255C>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118844C= | CA2120142787 | F7 | c.1171C= (p.Arg391=) c.1237C= (p.Arg413=) c.985C= (p.Arg329=) n.1258C= c.1030C= (p.Arg344=) c.1279C= (p.Arg427=) c.1093C= (p.Arg365=) c.931C= (p.Arg311=) c.1240C= (p.Arg414=) c.1075C= (p.Arg359=) c.1324C= (p.Arg442=) c.1138C= (p.Arg380=) n.1255C= | |
13 | g.113118844C>G | CA388786858 | F7 | c.1171C>G (p.Arg391Gly) c.1237C>G (p.Arg413Gly) c.985C>G (p.Arg329Gly) n.1258C>G c.1030C>G (p.Arg344Gly) c.1279C>G (p.Arg427Gly) c.1093C>G (p.Arg365Gly) c.931C>G (p.Arg311Gly) c.1240C>G (p.Arg414Gly) c.1075C>G (p.Arg359Gly) c.1324C>G (p.Arg442Gly) c.1138C>G (p.Arg380Gly) n.1255C>G | |
13 | g.113118844C>T | CA7060243 | F7 | c.1171C>T (p.Arg391Trp) c.1237C>T (p.Arg413Trp) c.985C>T (p.Arg329Trp) n.1258C>T c.1030C>T (p.Arg344Trp) c.1279C>T (p.Arg427Trp) c.1093C>T (p.Arg365Trp) c.931C>T (p.Arg311Trp) c.1240C>T (p.Arg414Trp) c.1075C>T (p.Arg359Trp) c.1324C>T (p.Arg442Trp) c.1138C>T (p.Arg380Trp) n.1255C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118845G>A | CA121855 | F7 | c.1172G>A (p.Arg391Gln) c.1238G>A (p.Arg413Gln) c.986G>A (p.Arg329Gln) n.1259G>A c.1031G>A (p.Arg344Gln) c.1280G>A (p.Arg427Gln) c.1094G>A (p.Arg365Gln) c.932G>A (p.Arg311Gln) c.1241G>A (p.Arg414Gln) c.1076G>A (p.Arg359Gln) c.1325G>A (p.Arg442Gln) c.1139G>A (p.Arg380Gln) n.1256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118845G>C | CA256461862 | F7 | c.1172G>C (p.Arg391Pro) c.1238G>C (p.Arg413Pro) c.986G>C (p.Arg329Pro) n.1259G>C c.1031G>C (p.Arg344Pro) c.1280G>C (p.Arg427Pro) c.1094G>C (p.Arg365Pro) c.932G>C (p.Arg311Pro) c.1241G>C (p.Arg414Pro) c.1076G>C (p.Arg359Pro) c.1325G>C (p.Arg442Pro) c.1139G>C (p.Arg380Pro) n.1256G>C | dbSNP |
13 | g.113118845G= | CA2018007887 | F7 | c.1172G= (p.Arg391=) c.1238G= (p.Arg413=) c.986G= (p.Arg329=) n.1259G= c.1031G= (p.Arg344=) c.1280G= (p.Arg427=) c.1094G= (p.Arg365=) c.932G= (p.Arg311=) c.1241G= (p.Arg414=) c.1076G= (p.Arg359=) c.1325G= (p.Arg442=) c.1139G= (p.Arg380=) n.1256G= | |
13 | g.113118845G>T | CA256461867 | F7 | c.1172G>T (p.Arg391Leu) c.1238G>T (p.Arg413Leu) c.986G>T (p.Arg329Leu) n.1259G>T c.1031G>T (p.Arg344Leu) c.1280G>T (p.Arg427Leu) c.1094G>T (p.Arg365Leu) c.932G>T (p.Arg311Leu) c.1241G>T (p.Arg414Leu) c.1076G>T (p.Arg359Leu) c.1325G>T (p.Arg442Leu) c.1139G>T (p.Arg380Leu) n.1256G>T | dbSNP |
13 | g.113118846G>A | CA485021213 | F7 | c.1173G>A (p.Arg391=) c.1239G>A (p.Arg413=) c.987G>A (p.Arg329=) n.1260G>A c.1032G>A (p.Arg344=) c.1281G>A (p.Arg427=) c.1095G>A (p.Arg365=) c.933G>A (p.Arg311=) c.1242G>A (p.Arg414=) c.1077G>A (p.Arg359=) c.1326G>A (p.Arg442=) c.1140G>A (p.Arg380=) n.1257G>A | COSMIC |
13 | g.113118846G>C | CA256461873 | F7 | c.1173G>C (p.Arg391=) c.1239G>C (p.Arg413=) c.987G>C (p.Arg329=) n.1260G>C c.1032G>C (p.Arg344=) c.1281G>C (p.Arg427=) c.1095G>C (p.Arg365=) c.933G>C (p.Arg311=) c.1242G>C (p.Arg414=) c.1077G>C (p.Arg359=) c.1326G>C (p.Arg442=) c.1140G>C (p.Arg380=) n.1257G>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118846G= | CA2120142798 | F7 | c.1173G= (p.Arg391=) c.1239G= (p.Arg413=) c.987G= (p.Arg329=) n.1260G= c.1032G= (p.Arg344=) c.1281G= (p.Arg427=) c.1095G= (p.Arg365=) c.933G= (p.Arg311=) c.1242G= (p.Arg414=) c.1077G= (p.Arg359=) c.1326G= (p.Arg442=) c.1140G= (p.Arg380=) n.1257G= | |
13 | g.113118846G>T | CA485021214 | F7 | c.1173G>T (p.Arg391=) c.1239G>T (p.Arg413=) c.987G>T (p.Arg329=) n.1260G>T c.1032G>T (p.Arg344=) c.1281G>T (p.Arg427=) c.1095G>T (p.Arg365=) c.933G>T (p.Arg311=) c.1242G>T (p.Arg414=) c.1077G>T (p.Arg359=) c.1326G>T (p.Arg442=) c.1140G>T (p.Arg380=) n.1257G>T | |
13 | g.113118847G>A | CA388786864 | F7 | c.1174G>A (p.Gly392Ser) c.1240G>A (p.Gly414Ser) c.988G>A (p.Gly330Ser) n.1261G>A c.1033G>A (p.Gly345Ser) c.1282G>A (p.Gly428Ser) c.1096G>A (p.Gly366Ser) c.934G>A (p.Gly312Ser) c.1243G>A (p.Gly415Ser) c.1078G>A (p.Gly360Ser) c.1327G>A (p.Gly443Ser) c.1141G>A (p.Gly381Ser) n.1258G>A | gnomAD v4 |
13 | g.113118847G>C | CA388786866 | F7 | c.1174G>C (p.Gly392Arg) c.1240G>C (p.Gly414Arg) c.988G>C (p.Gly330Arg) n.1261G>C c.1033G>C (p.Gly345Arg) c.1282G>C (p.Gly428Arg) c.1096G>C (p.Gly366Arg) c.934G>C (p.Gly312Arg) c.1243G>C (p.Gly415Arg) c.1078G>C (p.Gly360Arg) c.1327G>C (p.Gly443Arg) c.1141G>C (p.Gly381Arg) n.1258G>C | |
13 | g.113118847G= | CA2120142800 | F7 | c.1174G= (p.Gly392=) c.1240G= (p.Gly414=) c.988G= (p.Gly330=) n.1261G= c.1033G= (p.Gly345=) c.1282G= (p.Gly428=) c.1096G= (p.Gly366=) c.934G= (p.Gly312=) c.1243G= (p.Gly415=) c.1078G= (p.Gly360=) c.1327G= (p.Gly443=) c.1141G= (p.Gly381=) n.1258G= | |
13 | g.113118847G>T | CA256461887 | F7 | c.1174G>T (p.Gly392Cys) c.1240G>T (p.Gly414Cys) c.988G>T (p.Gly330Cys) n.1261G>T c.1033G>T (p.Gly345Cys) c.1282G>T (p.Gly428Cys) c.1096G>T (p.Gly366Cys) c.934G>T (p.Gly312Cys) c.1243G>T (p.Gly415Cys) c.1078G>T (p.Gly360Cys) c.1327G>T (p.Gly443Cys) c.1141G>T (p.Gly381Cys) n.1258G>T | ClinVar dbSNP |
13 | g.113118848G>A | CA388786870 | F7 | c.1175G>A (p.Gly392Asp) c.1241G>A (p.Gly414Asp) c.989G>A (p.Gly330Asp) n.1262G>A c.1034G>A (p.Gly345Asp) c.1283G>A (p.Gly428Asp) c.1097G>A (p.Gly366Asp) c.935G>A (p.Gly312Asp) c.1244G>A (p.Gly415Asp) c.1079G>A (p.Gly360Asp) c.1328G>A (p.Gly443Asp) c.1142G>A (p.Gly381Asp) n.1259G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118848G>C | CA388786871 | F7 | c.1175G>C (p.Gly392Ala) c.1241G>C (p.Gly414Ala) c.989G>C (p.Gly330Ala) n.1262G>C c.1034G>C (p.Gly345Ala) c.1283G>C (p.Gly428Ala) c.1097G>C (p.Gly366Ala) c.935G>C (p.Gly312Ala) c.1244G>C (p.Gly415Ala) c.1079G>C (p.Gly360Ala) c.1328G>C (p.Gly443Ala) c.1142G>C (p.Gly381Ala) n.1259G>C | |
13 | g.113118848G= | CA2120142802 | F7 | c.1175G= (p.Gly392=) c.1241G= (p.Gly414=) c.989G= (p.Gly330=) n.1262G= c.1034G= (p.Gly345=) c.1283G= (p.Gly428=) c.1097G= (p.Gly366=) c.935G= (p.Gly312=) c.1244G= (p.Gly415=) c.1079G= (p.Gly360=) c.1328G= (p.Gly443=) c.1142G= (p.Gly381=) n.1259G= | |
13 | g.113118848G>T | CA388786873 | F7 | c.1175G>T (p.Gly392Val) c.1241G>T (p.Gly414Val) c.989G>T (p.Gly330Val) n.1262G>T c.1034G>T (p.Gly345Val) c.1283G>T (p.Gly428Val) c.1097G>T (p.Gly366Val) c.935G>T (p.Gly312Val) c.1244G>T (p.Gly415Val) c.1079G>T (p.Gly360Val) c.1328G>T (p.Gly443Val) c.1142G>T (p.Gly381Val) n.1259G>T | |
13 | g.113118849C>A | CA485021215 | F7 | c.1176C>A (p.Gly392=) c.1242C>A (p.Gly414=) c.990C>A (p.Gly330=) n.1263C>A c.1035C>A (p.Gly345=) c.1284C>A (p.Gly428=) c.1098C>A (p.Gly366=) c.936C>A (p.Gly312=) c.1245C>A (p.Gly415=) c.1080C>A (p.Gly360=) c.1329C>A (p.Gly443=) c.1143C>A (p.Gly381=) n.1260C>A | |
13 | g.113118849C>G | CA485021216 | F7 | c.1176C>G (p.Gly392=) c.1242C>G (p.Gly414=) c.990C>G (p.Gly330=) n.1263C>G c.1035C>G (p.Gly345=) c.1284C>G (p.Gly428=) c.1098C>G (p.Gly366=) c.936C>G (p.Gly312=) c.1245C>G (p.Gly415=) c.1080C>G (p.Gly360=) c.1329C>G (p.Gly443=) c.1143C>G (p.Gly381=) n.1260C>G | |
13 | g.113118849C>T | CA485021217 | F7 | c.1176C>T (p.Gly392=) c.1242C>T (p.Gly414=) c.990C>T (p.Gly330=) n.1263C>T c.1035C>T (p.Gly345=) c.1284C>T (p.Gly428=) c.1098C>T (p.Gly366=) c.936C>T (p.Gly312=) c.1245C>T (p.Gly415=) c.1080C>T (p.Gly360=) c.1329C>T (p.Gly443=) c.1143C>T (p.Gly381=) n.1260C>T | |
13 | g.113118850A>C | CA388786875 | F7 | c.1177A>C (p.Thr393Pro) c.1243A>C (p.Thr415Pro) c.991A>C (p.Thr331Pro) n.1264A>C c.1036A>C (p.Thr346Pro) c.1285A>C (p.Thr429Pro) c.1099A>C (p.Thr367Pro) c.937A>C (p.Thr313Pro) c.1246A>C (p.Thr416Pro) c.1081A>C (p.Thr361Pro) c.1330A>C (p.Thr444Pro) c.1144A>C (p.Thr382Pro) n.1261A>C | |
13 | g.113118850A>G | CA388786879 | F7 | c.1177A>G (p.Thr393Ala) c.1243A>G (p.Thr415Ala) c.991A>G (p.Thr331Ala) n.1264A>G c.1036A>G (p.Thr346Ala) c.1285A>G (p.Thr429Ala) c.1099A>G (p.Thr367Ala) c.937A>G (p.Thr313Ala) c.1246A>G (p.Thr416Ala) c.1081A>G (p.Thr361Ala) c.1330A>G (p.Thr444Ala) c.1144A>G (p.Thr382Ala) n.1261A>G | |
13 | g.113118850A>T | CA388786877 | F7 | c.1177A>T (p.Thr393Ser) c.1243A>T (p.Thr415Ser) c.991A>T (p.Thr331Ser) n.1264A>T c.1036A>T (p.Thr346Ser) c.1285A>T (p.Thr429Ser) c.1099A>T (p.Thr367Ser) c.937A>T (p.Thr313Ser) c.1246A>T (p.Thr416Ser) c.1081A>T (p.Thr361Ser) c.1330A>T (p.Thr444Ser) c.1144A>T (p.Thr382Ser) n.1261A>T | |
13 | g.113118851C>A | CA388786882 | F7 | c.1178C>A (p.Thr393Lys) c.1244C>A (p.Thr415Lys) c.992C>A (p.Thr331Lys) n.1265C>A c.1037C>A (p.Thr346Lys) c.1286C>A (p.Thr429Lys) c.1100C>A (p.Thr367Lys) c.938C>A (p.Thr313Lys) c.1247C>A (p.Thr416Lys) c.1082C>A (p.Thr361Lys) c.1331C>A (p.Thr444Lys) c.1145C>A (p.Thr382Lys) n.1262C>A | |
13 | g.113118851C= | CA2120142807 | F7 | c.1178C= (p.Thr393=) c.1244C= (p.Thr415=) c.992C= (p.Thr331=) n.1265C= c.1037C= (p.Thr346=) c.1286C= (p.Thr429=) c.1100C= (p.Thr367=) c.938C= (p.Thr313=) c.1247C= (p.Thr416=) c.1082C= (p.Thr361=) c.1331C= (p.Thr444=) c.1145C= (p.Thr382=) n.1262C= | |
13 | g.113118851C>G | CA388786884 | F7 | c.1178C>G (p.Thr393Arg) c.1244C>G (p.Thr415Arg) c.992C>G (p.Thr331Arg) n.1265C>G c.1037C>G (p.Thr346Arg) c.1286C>G (p.Thr429Arg) c.1100C>G (p.Thr367Arg) c.938C>G (p.Thr313Arg) c.1247C>G (p.Thr416Arg) c.1082C>G (p.Thr361Arg) c.1331C>G (p.Thr444Arg) c.1145C>G (p.Thr382Arg) n.1262C>G | gnomAD v4 |
13 | g.113118851C>T | CA388786886 | F7 | c.1178C>T (p.Thr393Met) c.1244C>T (p.Thr415Met) c.992C>T (p.Thr331Met) n.1265C>T c.1037C>T (p.Thr346Met) c.1286C>T (p.Thr429Met) c.1100C>T (p.Thr367Met) c.938C>T (p.Thr313Met) c.1247C>T (p.Thr416Met) c.1082C>T (p.Thr361Met) c.1331C>T (p.Thr444Met) c.1145C>T (p.Thr382Met) n.1262C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118852G>A | CA7060244 | F7 | c.1179G>A (p.Thr393=) c.1245G>A (p.Thr415=) c.993G>A (p.Thr331=) n.1266G>A c.1038G>A (p.Thr346=) c.1287G>A (p.Thr429=) c.1101G>A (p.Thr367=) c.939G>A (p.Thr313=) c.1248G>A (p.Thr416=) c.1083G>A (p.Thr361=) c.1332G>A (p.Thr444=) c.1146G>A (p.Thr382=) n.1263G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118852G>C | CA7060245 | F7 | c.1179G>C (p.Thr393=) c.1245G>C (p.Thr415=) c.993G>C (p.Thr331=) n.1266G>C c.1038G>C (p.Thr346=) c.1287G>C (p.Thr429=) c.1101G>C (p.Thr367=) c.939G>C (p.Thr313=) c.1248G>C (p.Thr416=) c.1083G>C (p.Thr361=) c.1332G>C (p.Thr444=) c.1146G>C (p.Thr382=) n.1263G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118852G= | CA2120142812 | F7 | c.1179G= (p.Thr393=) c.1245G= (p.Thr415=) c.993G= (p.Thr331=) n.1266G= c.1038G= (p.Thr346=) c.1287G= (p.Thr429=) c.1101G= (p.Thr367=) c.939G= (p.Thr313=) c.1248G= (p.Thr416=) c.1083G= (p.Thr361=) c.1332G= (p.Thr444=) c.1146G= (p.Thr382=) n.1263G= | |
13 | g.113118852G>T | CA485021218 | F7 | c.1179G>T (p.Thr393=) c.1245G>T (p.Thr415=) c.993G>T (p.Thr331=) n.1266G>T c.1038G>T (p.Thr346=) c.1287G>T (p.Thr429=) c.1101G>T (p.Thr367=) c.939G>T (p.Thr313=) c.1248G>T (p.Thr416=) c.1083G>T (p.Thr361=) c.1332G>T (p.Thr444=) c.1146G>T (p.Thr382=) n.1263G>T | |
13 | g.113118853_113118854del | CA2623809360 | F7 | c.1180_1181del (p.Trp394ValfsTer?) c.1246_1247del (p.Trp416ValfsTer?) c.994_995del (p.Trp332ValfsTer?) n.1267_1268del c.1039_1040del (p.Trp347ValfsTer?) c.1288_1289del (p.Trp430ValfsTer?) c.1102_1103del (p.Trp368ValfsTer?) c.940_941del (p.Trp314ValfsTer?) c.1249_1250del (p.Trp417ValfsTer?) c.1084_1085del (p.Trp362ValfsTer?) c.1333_1334del (p.Trp445ValfsTer?) c.1147_1148del (p.Trp383ValfsTer?) n.1264_1265del | gnomAD v4 |
13 | g.113118853del | CA2695218993 | F7 | c.1180del (p.Trp394GlyfsTer3) c.1246del (p.Trp416GlyfsTer3) c.994del (p.Trp332GlyfsTer3) n.1267del c.1039del (p.Trp347GlyfsTer3) c.1288del (p.Trp430GlyfsTer3) c.1102del (p.Trp368GlyfsTer3) c.940del (p.Trp314GlyfsTer3) c.1249del (p.Trp417GlyfsTer3) c.1084del (p.Trp362GlyfsTer3) c.1333del (p.Trp445GlyfsTer3) c.1147del (p.Trp383GlyfsTer3) n.1264del | |
13 | g.113118853T>A | CA388786893 | F7 | c.1180T>A (p.Trp394Arg) c.1246T>A (p.Trp416Arg) c.994T>A (p.Trp332Arg) n.1267T>A c.1039T>A (p.Trp347Arg) c.1288T>A (p.Trp430Arg) c.1102T>A (p.Trp368Arg) c.940T>A (p.Trp314Arg) c.1249T>A (p.Trp417Arg) c.1084T>A (p.Trp362Arg) c.1333T>A (p.Trp445Arg) c.1147T>A (p.Trp383Arg) n.1264T>A | |
13 | g.113118853T>C | CA388786894 | F7 | c.1180T>C (p.Trp394Arg) c.1246T>C (p.Trp416Arg) c.994T>C (p.Trp332Arg) n.1267T>C c.1039T>C (p.Trp347Arg) c.1288T>C (p.Trp430Arg) c.1102T>C (p.Trp368Arg) c.940T>C (p.Trp314Arg) c.1249T>C (p.Trp417Arg) c.1084T>C (p.Trp362Arg) c.1333T>C (p.Trp445Arg) c.1147T>C (p.Trp383Arg) n.1264T>C | |
13 | g.113118853T>G | CA388786891 | F7 | c.1180T>G (p.Trp394Gly) c.1246T>G (p.Trp416Gly) c.994T>G (p.Trp332Gly) n.1267T>G c.1039T>G (p.Trp347Gly) c.1288T>G (p.Trp430Gly) c.1102T>G (p.Trp368Gly) c.940T>G (p.Trp314Gly) c.1249T>G (p.Trp417Gly) c.1084T>G (p.Trp362Gly) c.1333T>G (p.Trp445Gly) c.1147T>G (p.Trp383Gly) n.1264T>G | |
13 | g.113118854G>A | CA388786898 | F7 | c.1181G>A (p.Trp394Ter) c.1247G>A (p.Trp416Ter) c.995G>A (p.Trp332Ter) n.1268G>A c.1040G>A (p.Trp347Ter) c.1289G>A (p.Trp430Ter) c.1103G>A (p.Trp368Ter) c.941G>A (p.Trp314Ter) c.1250G>A (p.Trp417Ter) c.1085G>A (p.Trp362Ter) c.1334G>A (p.Trp445Ter) c.1148G>A (p.Trp383Ter) n.1265G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118854G>C | CA388786902 | F7 | c.1181G>C (p.Trp394Ser) c.1247G>C (p.Trp416Ser) c.995G>C (p.Trp332Ser) n.1268G>C c.1040G>C (p.Trp347Ser) c.1289G>C (p.Trp430Ser) c.1103G>C (p.Trp368Ser) c.941G>C (p.Trp314Ser) c.1250G>C (p.Trp417Ser) c.1085G>C (p.Trp362Ser) c.1334G>C (p.Trp445Ser) c.1148G>C (p.Trp383Ser) n.1265G>C | |
13 | g.113118854G= | CA2120142818 | F7 | c.1181G= (p.Trp394=) c.1247G= (p.Trp416=) c.995G= (p.Trp332=) n.1268G= c.1040G= (p.Trp347=) c.1289G= (p.Trp430=) c.1103G= (p.Trp368=) c.941G= (p.Trp314=) c.1250G= (p.Trp417=) c.1085G= (p.Trp362=) c.1334G= (p.Trp445=) c.1148G= (p.Trp383=) n.1265G= | |
13 | g.113118854G>T | CA388786899 | F7 | c.1181G>T (p.Trp394Leu) c.1247G>T (p.Trp416Leu) c.995G>T (p.Trp332Leu) n.1268G>T c.1040G>T (p.Trp347Leu) c.1289G>T (p.Trp430Leu) c.1103G>T (p.Trp368Leu) c.941G>T (p.Trp314Leu) c.1250G>T (p.Trp417Leu) c.1085G>T (p.Trp362Leu) c.1334G>T (p.Trp445Leu) c.1148G>T (p.Trp383Leu) n.1265G>T | |
13 | g.113118855G>A | CA388786903 | F7 | c.1182G>A (p.Trp394Ter) c.1248G>A (p.Trp416Ter) c.996G>A (p.Trp332Ter) n.1269G>A c.1041G>A (p.Trp347Ter) c.1290G>A (p.Trp430Ter) c.1104G>A (p.Trp368Ter) c.942G>A (p.Trp314Ter) c.1251G>A (p.Trp417Ter) c.1086G>A (p.Trp362Ter) c.1335G>A (p.Trp445Ter) c.1149G>A (p.Trp383Ter) n.1266G>A | |
13 | g.113118855G>C | CA388786905 | F7 | c.1182G>C (p.Trp394Cys) c.1248G>C (p.Trp416Cys) c.996G>C (p.Trp332Cys) n.1269G>C c.1041G>C (p.Trp347Cys) c.1290G>C (p.Trp430Cys) c.1104G>C (p.Trp368Cys) c.942G>C (p.Trp314Cys) c.1251G>C (p.Trp417Cys) c.1086G>C (p.Trp362Cys) c.1335G>C (p.Trp445Cys) c.1149G>C (p.Trp383Cys) n.1266G>C | |
13 | g.113118855G>T | CA388786907 | F7 | c.1182G>T (p.Trp394Cys) c.1248G>T (p.Trp416Cys) c.996G>T (p.Trp332Cys) n.1269G>T c.1041G>T (p.Trp347Cys) c.1290G>T (p.Trp430Cys) c.1104G>T (p.Trp368Cys) c.942G>T (p.Trp314Cys) c.1251G>T (p.Trp417Cys) c.1086G>T (p.Trp362Cys) c.1335G>T (p.Trp445Cys) c.1149G>T (p.Trp383Cys) n.1266G>T | |
13 | g.113118856T>A | CA388786910 | F7 | c.1183T>A (p.Tyr395Asn) c.1249T>A (p.Tyr417Asn) c.997T>A (p.Tyr333Asn) n.1270T>A c.1042T>A (p.Tyr348Asn) c.1291T>A (p.Tyr431Asn) c.1105T>A (p.Tyr369Asn) c.943T>A (p.Tyr315Asn) c.1252T>A (p.Tyr418Asn) c.1087T>A (p.Tyr363Asn) c.1336T>A (p.Tyr446Asn) c.1150T>A (p.Tyr384Asn) n.1267T>A | |
13 | g.113118856T>C | CA388786911 | F7 | c.1183T>C (p.Tyr395His) c.1249T>C (p.Tyr417His) c.997T>C (p.Tyr333His) n.1270T>C c.1042T>C (p.Tyr348His) c.1291T>C (p.Tyr431His) c.1105T>C (p.Tyr369His) c.943T>C (p.Tyr315His) c.1252T>C (p.Tyr418His) c.1087T>C (p.Tyr363His) c.1336T>C (p.Tyr446His) c.1150T>C (p.Tyr384His) n.1267T>C | |
13 | g.113118856T>G | CA388786914 | F7 | c.1183T>G (p.Tyr395Asp) c.1249T>G (p.Tyr417Asp) c.997T>G (p.Tyr333Asp) n.1270T>G c.1042T>G (p.Tyr348Asp) c.1291T>G (p.Tyr431Asp) c.1105T>G (p.Tyr369Asp) c.943T>G (p.Tyr315Asp) c.1252T>G (p.Tyr418Asp) c.1087T>G (p.Tyr363Asp) c.1336T>G (p.Tyr446Asp) c.1150T>G (p.Tyr384Asp) n.1267T>G | |
13 | g.113118857A>C | CA388786917 | F7 | c.1184A>C (p.Tyr395Ser) c.1250A>C (p.Tyr417Ser) c.998A>C (p.Tyr333Ser) n.1271A>C c.1043A>C (p.Tyr348Ser) c.1292A>C (p.Tyr431Ser) c.1106A>C (p.Tyr369Ser) c.944A>C (p.Tyr315Ser) c.1253A>C (p.Tyr418Ser) c.1088A>C (p.Tyr363Ser) c.1337A>C (p.Tyr446Ser) c.1151A>C (p.Tyr384Ser) n.1268A>C | |
13 | g.113118857A>G | CA388786919 | F7 | c.1184A>G (p.Tyr395Cys) c.1250A>G (p.Tyr417Cys) c.998A>G (p.Tyr333Cys) n.1271A>G c.1043A>G (p.Tyr348Cys) c.1292A>G (p.Tyr431Cys) c.1106A>G (p.Tyr369Cys) c.944A>G (p.Tyr315Cys) c.1253A>G (p.Tyr418Cys) c.1088A>G (p.Tyr363Cys) c.1337A>G (p.Tyr446Cys) c.1151A>G (p.Tyr384Cys) n.1268A>G | |
13 | g.113118857A>T | CA388786921 | F7 | c.1184A>T (p.Tyr395Phe) c.1250A>T (p.Tyr417Phe) c.998A>T (p.Tyr333Phe) n.1271A>T c.1043A>T (p.Tyr348Phe) c.1292A>T (p.Tyr431Phe) c.1106A>T (p.Tyr369Phe) c.944A>T (p.Tyr315Phe) c.1253A>T (p.Tyr418Phe) c.1088A>T (p.Tyr363Phe) c.1337A>T (p.Tyr446Phe) c.1151A>T (p.Tyr384Phe) n.1268A>T | |
13 | g.113118858C>A | CA388786922 | F7 | c.1185C>A (p.Tyr395Ter) c.1251C>A (p.Tyr417Ter) c.999C>A (p.Tyr333Ter) n.1272C>A c.1044C>A (p.Tyr348Ter) c.1293C>A (p.Tyr431Ter) c.1107C>A (p.Tyr369Ter) c.945C>A (p.Tyr315Ter) c.1254C>A (p.Tyr418Ter) c.1089C>A (p.Tyr363Ter) c.1338C>A (p.Tyr446Ter) c.1152C>A (p.Tyr384Ter) n.1269C>A | COSMIC |
13 | g.113118858C>G | CA388786924 | F7 | c.1185C>G (p.Tyr395Ter) c.1251C>G (p.Tyr417Ter) c.999C>G (p.Tyr333Ter) n.1272C>G c.1044C>G (p.Tyr348Ter) c.1293C>G (p.Tyr431Ter) c.1107C>G (p.Tyr369Ter) c.945C>G (p.Tyr315Ter) c.1254C>G (p.Tyr418Ter) c.1089C>G (p.Tyr363Ter) c.1338C>G (p.Tyr446Ter) c.1152C>G (p.Tyr384Ter) n.1269C>G | |
13 | g.113118858C>T | CA485021219 | F7 | c.1185C>T (p.Tyr395=) c.1251C>T (p.Tyr417=) c.999C>T (p.Tyr333=) n.1272C>T c.1044C>T (p.Tyr348=) c.1293C>T (p.Tyr431=) c.1107C>T (p.Tyr369=) c.945C>T (p.Tyr315=) c.1254C>T (p.Tyr418=) c.1089C>T (p.Tyr363=) c.1338C>T (p.Tyr446=) c.1152C>T (p.Tyr384=) n.1269C>T | |
13 | g.113118859C>A | CA388786926 | F7 | c.1186C>A (p.Leu396Met) c.1252C>A (p.Leu418Met) c.1000C>A (p.Leu334Met) n.1273C>A c.1045C>A (p.Leu349Met) c.1294C>A (p.Leu432Met) c.1108C>A (p.Leu370Met) c.946C>A (p.Leu316Met) c.1255C>A (p.Leu419Met) c.1090C>A (p.Leu364Met) c.1339C>A (p.Leu447Met) c.1153C>A (p.Leu385Met) n.1270C>A | |
13 | g.113118859C= | CA2120142829 | F7 | c.1186C= (p.Leu396=) c.1252C= (p.Leu418=) c.1000C= (p.Leu334=) n.1273C= c.1045C= (p.Leu349=) c.1294C= (p.Leu432=) c.1108C= (p.Leu370=) c.946C= (p.Leu316=) c.1255C= (p.Leu419=) c.1090C= (p.Leu364=) c.1339C= (p.Leu447=) c.1153C= (p.Leu385=) n.1270C= | |
13 | g.113118859C>G | CA388786929 | F7 | c.1186C>G (p.Leu396Val) c.1252C>G (p.Leu418Val) c.1000C>G (p.Leu334Val) n.1273C>G c.1045C>G (p.Leu349Val) c.1294C>G (p.Leu432Val) c.1108C>G (p.Leu370Val) c.946C>G (p.Leu316Val) c.1255C>G (p.Leu419Val) c.1090C>G (p.Leu364Val) c.1339C>G (p.Leu447Val) c.1153C>G (p.Leu385Val) n.1270C>G | |
13 | g.113118859C>T | CA485021220 | F7 | c.1186C>T (p.Leu396=) c.1252C>T (p.Leu418=) c.1000C>T (p.Leu334=) n.1273C>T c.1045C>T (p.Leu349=) c.1294C>T (p.Leu432=) c.1108C>T (p.Leu370=) c.946C>T (p.Leu316=) c.1255C>T (p.Leu419=) c.1090C>T (p.Leu364=) c.1339C>T (p.Leu447=) c.1153C>T (p.Leu385=) n.1270C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118860T>A | CA388786932 | F7 | c.1187T>A (p.Leu396Gln) c.1253T>A (p.Leu418Gln) c.1001T>A (p.Leu334Gln) n.1274T>A c.1046T>A (p.Leu349Gln) c.1295T>A (p.Leu432Gln) c.1109T>A (p.Leu370Gln) c.947T>A (p.Leu316Gln) c.1256T>A (p.Leu419Gln) c.1091T>A (p.Leu364Gln) c.1340T>A (p.Leu447Gln) c.1154T>A (p.Leu385Gln) n.1271T>A | |
13 | g.113118860T>C | CA388786936 | F7 | c.1187T>C (p.Leu396Pro) c.1253T>C (p.Leu418Pro) c.1001T>C (p.Leu334Pro) n.1274T>C c.1046T>C (p.Leu349Pro) c.1295T>C (p.Leu432Pro) c.1109T>C (p.Leu370Pro) c.947T>C (p.Leu316Pro) c.1256T>C (p.Leu419Pro) c.1091T>C (p.Leu364Pro) c.1340T>C (p.Leu447Pro) c.1154T>C (p.Leu385Pro) n.1271T>C | |
13 | g.113118860T>G | CA388786933 | F7 | c.1187T>G (p.Leu396Arg) c.1253T>G (p.Leu418Arg) c.1001T>G (p.Leu334Arg) n.1274T>G c.1046T>G (p.Leu349Arg) c.1295T>G (p.Leu432Arg) c.1109T>G (p.Leu370Arg) c.947T>G (p.Leu316Arg) c.1256T>G (p.Leu419Arg) c.1091T>G (p.Leu364Arg) c.1340T>G (p.Leu447Arg) c.1154T>G (p.Leu385Arg) n.1271T>G | |
13 | g.113118861G>A | CA485021221 | F7 | c.1188G>A (p.Leu396=) c.1254G>A (p.Leu418=) c.1002G>A (p.Leu334=) n.1275G>A c.1047G>A (p.Leu349=) c.1296G>A (p.Leu432=) c.1110G>A (p.Leu370=) c.948G>A (p.Leu316=) c.1257G>A (p.Leu419=) c.1092G>A (p.Leu364=) c.1341G>A (p.Leu447=) c.1155G>A (p.Leu385=) n.1272G>A | gnomAD v4 |
13 | g.113118861G>C | CA485021222 | F7 | c.1188G>C (p.Leu396=) c.1254G>C (p.Leu418=) c.1002G>C (p.Leu334=) n.1275G>C c.1047G>C (p.Leu349=) c.1296G>C (p.Leu432=) c.1110G>C (p.Leu370=) c.948G>C (p.Leu316=) c.1257G>C (p.Leu419=) c.1092G>C (p.Leu364=) c.1341G>C (p.Leu447=) c.1155G>C (p.Leu385=) n.1272G>C | COSMIC COSMIC |
13 | g.113118861G>T | CA485021223 | F7 | c.1188G>T (p.Leu396=) c.1254G>T (p.Leu418=) c.1002G>T (p.Leu334=) n.1275G>T c.1047G>T (p.Leu349=) c.1296G>T (p.Leu432=) c.1110G>T (p.Leu370=) c.948G>T (p.Leu316=) c.1257G>T (p.Leu419=) c.1092G>T (p.Leu364=) c.1341G>T (p.Leu447=) c.1155G>T (p.Leu385=) n.1272G>T | |
13 | g.113118861_113118862insGT | CA2623809382 | F7 | c.1188_1189insGT (p.Thr397ValfsTer?) c.1254_1255insGT (p.Thr419ValfsTer?) c.1002_1003insGT (p.Thr335ValfsTer?) n.1275_1276insGT c.1047_1048insGT (p.Thr350ValfsTer?) c.1296_1297insGT (p.Thr433ValfsTer?) c.1110_1111insGT (p.Thr371ValfsTer?) c.948_949insGT (p.Thr317ValfsTer?) c.1257_1258insGT (p.Thr420ValfsTer?) c.1092_1093insGT (p.Thr365ValfsTer?) c.1341_1342insGT (p.Thr448ValfsTer?) c.1155_1156insGT (p.Thr386ValfsTer?) n.1272_1273insGT | gnomAD v4 |
13 | g.113118862A>C | CA388786939 | F7 | c.1189A>C (p.Thr397Pro) c.1255A>C (p.Thr419Pro) c.1003A>C (p.Thr335Pro) n.1276A>C c.1048A>C (p.Thr350Pro) c.1297A>C (p.Thr433Pro) c.1111A>C (p.Thr371Pro) c.949A>C (p.Thr317Pro) c.1258A>C (p.Thr420Pro) c.1093A>C (p.Thr365Pro) c.1342A>C (p.Thr448Pro) c.1156A>C (p.Thr386Pro) n.1273A>C | |
13 | g.113118862A>G | CA388786940 | F7 | c.1189A>G (p.Thr397Ala) c.1255A>G (p.Thr419Ala) c.1003A>G (p.Thr335Ala) n.1276A>G c.1048A>G (p.Thr350Ala) c.1297A>G (p.Thr433Ala) c.1111A>G (p.Thr371Ala) c.949A>G (p.Thr317Ala) c.1258A>G (p.Thr420Ala) c.1093A>G (p.Thr365Ala) c.1342A>G (p.Thr448Ala) c.1156A>G (p.Thr386Ala) n.1273A>G | |
13 | g.113118862A>T | CA388786942 | F7 | c.1189A>T (p.Thr397Ser) c.1255A>T (p.Thr419Ser) c.1003A>T (p.Thr335Ser) n.1276A>T c.1048A>T (p.Thr350Ser) c.1297A>T (p.Thr433Ser) c.1111A>T (p.Thr371Ser) c.949A>T (p.Thr317Ser) c.1258A>T (p.Thr420Ser) c.1093A>T (p.Thr365Ser) c.1342A>T (p.Thr448Ser) c.1156A>T (p.Thr386Ser) n.1273A>T | |
13 | g.113118863C>A | CA388786945 | F7 | c.1190C>A (p.Thr397Lys) c.1256C>A (p.Thr419Lys) c.1004C>A (p.Thr335Lys) n.1277C>A c.1049C>A (p.Thr350Lys) c.1298C>A (p.Thr433Lys) c.1112C>A (p.Thr371Lys) c.950C>A (p.Thr317Lys) c.1259C>A (p.Thr420Lys) c.1094C>A (p.Thr365Lys) c.1343C>A (p.Thr448Lys) c.1157C>A (p.Thr386Lys) n.1274C>A | gnomAD v4 |
13 | g.113118863C= | CA2120142833 | F7 | c.1190C= (p.Thr397=) c.1256C= (p.Thr419=) c.1004C= (p.Thr335=) n.1277C= c.1049C= (p.Thr350=) c.1298C= (p.Thr433=) c.1112C= (p.Thr371=) c.950C= (p.Thr317=) c.1259C= (p.Thr420=) c.1094C= (p.Thr365=) c.1343C= (p.Thr448=) c.1157C= (p.Thr386=) n.1274C= | |
13 | g.113118863C>G | CA388786947 | F7 | c.1190C>G (p.Thr397Arg) c.1256C>G (p.Thr419Arg) c.1004C>G (p.Thr335Arg) n.1277C>G c.1049C>G (p.Thr350Arg) c.1298C>G (p.Thr433Arg) c.1112C>G (p.Thr371Arg) c.950C>G (p.Thr317Arg) c.1259C>G (p.Thr420Arg) c.1094C>G (p.Thr365Arg) c.1343C>G (p.Thr448Arg) c.1157C>G (p.Thr386Arg) n.1274C>G | |
13 | g.113118863C>T | CA7060246 | F7 | c.1190C>T (p.Thr397Met) c.1256C>T (p.Thr419Met) c.1004C>T (p.Thr335Met) n.1277C>T c.1049C>T (p.Thr350Met) c.1298C>T (p.Thr433Met) c.1112C>T (p.Thr371Met) c.950C>T (p.Thr317Met) c.1259C>T (p.Thr420Met) c.1094C>T (p.Thr365Met) c.1343C>T (p.Thr448Met) c.1157C>T (p.Thr386Met) n.1274C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118864G>A | CA7060247 | F7 | c.1191G>A (p.Thr397=) c.1257G>A (p.Thr419=) c.1005G>A (p.Thr335=) n.1278G>A c.1050G>A (p.Thr350=) c.1299G>A (p.Thr433=) c.1113G>A (p.Thr371=) c.951G>A (p.Thr317=) c.1260G>A (p.Thr420=) c.1095G>A (p.Thr365=) c.1344G>A (p.Thr448=) c.1158G>A (p.Thr386=) n.1275G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118864G>C | CA485021224 | F7 | c.1191G>C (p.Thr397=) c.1257G>C (p.Thr419=) c.1005G>C (p.Thr335=) n.1278G>C c.1050G>C (p.Thr350=) c.1299G>C (p.Thr433=) c.1113G>C (p.Thr371=) c.951G>C (p.Thr317=) c.1260G>C (p.Thr420=) c.1095G>C (p.Thr365=) c.1344G>C (p.Thr448=) c.1158G>C (p.Thr386=) n.1275G>C | |
13 | g.113118864G= | CA2120142840 | F7 | c.1191G= (p.Thr397=) c.1257G= (p.Thr419=) c.1005G= (p.Thr335=) n.1278G= c.1050G= (p.Thr350=) c.1299G= (p.Thr433=) c.1113G= (p.Thr371=) c.951G= (p.Thr317=) c.1260G= (p.Thr420=) c.1095G= (p.Thr365=) c.1344G= (p.Thr448=) c.1158G= (p.Thr386=) n.1275G= | |
13 | g.113118864G>T | CA485021225 | F7 | c.1191G>T (p.Thr397=) c.1257G>T (p.Thr419=) c.1005G>T (p.Thr335=) n.1278G>T c.1050G>T (p.Thr350=) c.1299G>T (p.Thr433=) c.1113G>T (p.Thr371=) c.951G>T (p.Thr317=) c.1260G>T (p.Thr420=) c.1095G>T (p.Thr365=) c.1344G>T (p.Thr448=) c.1158G>T (p.Thr386=) n.1275G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118864_113118866del | CA2623809392 | F7 | c.1191_1193del (p.Gly398del) c.1257_1259del (p.Gly420del) c.1005_1007del (p.Gly336del) n.1278_1280del c.1050_1052del (p.Gly351del) c.1299_1301del (p.Gly434del) c.1113_1115del (p.Gly372del) c.951_953del (p.Gly318del) c.1260_1262del (p.Gly421del) c.1095_1097del (p.Gly366del) c.1344_1346del (p.Gly449del) c.1158_1160del (p.Gly387del) n.1275_1277del | gnomAD v4 |
13 | g.113118865G>A | CA388786951 | F7 | c.1192G>A (p.Gly398Ser) c.1258G>A (p.Gly420Ser) c.1006G>A (p.Gly336Ser) n.1279G>A c.1051G>A (p.Gly351Ser) c.1300G>A (p.Gly434Ser) c.1114G>A (p.Gly372Ser) c.952G>A (p.Gly318Ser) c.1261G>A (p.Gly421Ser) c.1096G>A (p.Gly366Ser) c.1345G>A (p.Gly449Ser) c.1159G>A (p.Gly387Ser) n.1276G>A | gnomAD v4 |
13 | g.113118865G>C | CA388786952 | F7 | c.1192G>C (p.Gly398Arg) c.1258G>C (p.Gly420Arg) c.1006G>C (p.Gly336Arg) n.1279G>C c.1051G>C (p.Gly351Arg) c.1300G>C (p.Gly434Arg) c.1114G>C (p.Gly372Arg) c.952G>C (p.Gly318Arg) c.1261G>C (p.Gly421Arg) c.1096G>C (p.Gly366Arg) c.1345G>C (p.Gly449Arg) c.1159G>C (p.Gly387Arg) n.1276G>C | |
13 | g.113118865G>T | CA388786953 | F7 | c.1192G>T (p.Gly398Cys) c.1258G>T (p.Gly420Cys) c.1006G>T (p.Gly336Cys) n.1279G>T c.1051G>T (p.Gly351Cys) c.1300G>T (p.Gly434Cys) c.1114G>T (p.Gly372Cys) c.952G>T (p.Gly318Cys) c.1261G>T (p.Gly421Cys) c.1096G>T (p.Gly366Cys) c.1345G>T (p.Gly449Cys) c.1159G>T (p.Gly387Cys) n.1276G>T | |
13 | g.113118866G>A | CA388786955 | F7 | c.1193G>A (p.Gly398Asp) c.1259G>A (p.Gly420Asp) c.1007G>A (p.Gly336Asp) n.1280G>A c.1052G>A (p.Gly351Asp) c.1301G>A (p.Gly434Asp) c.1115G>A (p.Gly372Asp) c.953G>A (p.Gly318Asp) c.1262G>A (p.Gly421Asp) c.1097G>A (p.Gly366Asp) c.1346G>A (p.Gly449Asp) c.1160G>A (p.Gly387Asp) n.1277G>A | |
13 | g.113118866G>C | CA7060248 | F7 | c.1193G>C (p.Gly398Ala) c.1259G>C (p.Gly420Ala) c.1007G>C (p.Gly336Ala) n.1280G>C c.1052G>C (p.Gly351Ala) c.1301G>C (p.Gly434Ala) c.1115G>C (p.Gly372Ala) c.953G>C (p.Gly318Ala) c.1262G>C (p.Gly421Ala) c.1097G>C (p.Gly366Ala) c.1346G>C (p.Gly449Ala) c.1160G>C (p.Gly387Ala) n.1277G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118866G= | CA2120142849 | F7 | c.1193G= (p.Gly398=) c.1259G= (p.Gly420=) c.1007G= (p.Gly336=) n.1280G= c.1052G= (p.Gly351=) c.1301G= (p.Gly434=) c.1115G= (p.Gly372=) c.953G= (p.Gly318=) c.1262G= (p.Gly421=) c.1097G= (p.Gly366=) c.1346G= (p.Gly449=) c.1160G= (p.Gly387=) n.1277G= | |
13 | g.113118866G>T | CA388786954 | F7 | c.1193G>T (p.Gly398Val) c.1259G>T (p.Gly420Val) c.1007G>T (p.Gly336Val) n.1280G>T c.1052G>T (p.Gly351Val) c.1301G>T (p.Gly434Val) c.1115G>T (p.Gly372Val) c.953G>T (p.Gly318Val) c.1262G>T (p.Gly421Val) c.1097G>T (p.Gly366Val) c.1346G>T (p.Gly449Val) c.1160G>T (p.Gly387Val) n.1277G>T | |
13 | g.113118867C>A | CA485021226 | F7 | c.1194C>A (p.Gly398=) c.1260C>A (p.Gly420=) c.1008C>A (p.Gly336=) n.1281C>A c.1053C>A (p.Gly351=) c.1302C>A (p.Gly434=) c.1116C>A (p.Gly372=) c.954C>A (p.Gly318=) c.1263C>A (p.Gly421=) c.1098C>A (p.Gly366=) c.1347C>A (p.Gly449=) c.1161C>A (p.Gly387=) n.1278C>A | |
13 | g.113118867C>G | CA485021228 | F7 | c.1194C>G (p.Gly398=) c.1260C>G (p.Gly420=) c.1008C>G (p.Gly336=) n.1281C>G c.1053C>G (p.Gly351=) c.1302C>G (p.Gly434=) c.1116C>G (p.Gly372=) c.954C>G (p.Gly318=) c.1263C>G (p.Gly421=) c.1098C>G (p.Gly366=) c.1347C>G (p.Gly449=) c.1161C>G (p.Gly387=) n.1278C>G | |
13 | g.113118867C>T | CA485021227 | F7 | c.1194C>T (p.Gly398=) c.1260C>T (p.Gly420=) c.1008C>T (p.Gly336=) n.1281C>T c.1053C>T (p.Gly351=) c.1302C>T (p.Gly434=) c.1116C>T (p.Gly372=) c.954C>T (p.Gly318=) c.1263C>T (p.Gly421=) c.1098C>T (p.Gly366=) c.1347C>T (p.Gly449=) c.1161C>T (p.Gly387=) n.1278C>T | gnomAD v4 |
13 | g.113118868del | CA2739291818 | F7 | c.1195del (p.Ile399SerfsTer?) c.1261del (p.Ile421SerfsTer?) c.1009del (p.Ile337SerfsTer?) n.1282del c.1054del (p.Ile352SerfsTer?) c.1303del (p.Ile435SerfsTer?) c.1117del (p.Ile373SerfsTer?) c.955del (p.Ile319SerfsTer?) c.1264del (p.Ile422SerfsTer?) c.1099del (p.Ile367SerfsTer?) c.1348del (p.Ile450SerfsTer?) c.1162del (p.Ile388SerfsTer?) n.1279del | |
13 | g.113118868A>C | CA388786956 | F7 | c.1195A>C (p.Ile399Leu) c.1261A>C (p.Ile421Leu) c.1009A>C (p.Ile337Leu) n.1282A>C c.1054A>C (p.Ile352Leu) c.1303A>C (p.Ile435Leu) c.1117A>C (p.Ile373Leu) c.955A>C (p.Ile319Leu) c.1264A>C (p.Ile422Leu) c.1099A>C (p.Ile367Leu) c.1348A>C (p.Ile450Leu) c.1162A>C (p.Ile388Leu) n.1279A>C | |
13 | g.113118868A>G | CA388786957 | F7 | c.1195A>G (p.Ile399Val) c.1261A>G (p.Ile421Val) c.1009A>G (p.Ile337Val) n.1282A>G c.1054A>G (p.Ile352Val) c.1303A>G (p.Ile435Val) c.1117A>G (p.Ile373Val) c.955A>G (p.Ile319Val) c.1264A>G (p.Ile422Val) c.1099A>G (p.Ile367Val) c.1348A>G (p.Ile450Val) c.1162A>G (p.Ile388Val) n.1279A>G | |
13 | g.113118868A>T | CA388786958 | F7 | c.1195A>T (p.Ile399Phe) c.1261A>T (p.Ile421Phe) c.1009A>T (p.Ile337Phe) n.1282A>T c.1054A>T (p.Ile352Phe) c.1303A>T (p.Ile435Phe) c.1117A>T (p.Ile373Phe) c.955A>T (p.Ile319Phe) c.1264A>T (p.Ile422Phe) c.1099A>T (p.Ile367Phe) c.1348A>T (p.Ile450Phe) c.1162A>T (p.Ile388Phe) n.1279A>T | |
13 | g.113118869T>A | CA388786959 | F7 | c.1196T>A (p.Ile399Asn) c.1262T>A (p.Ile421Asn) c.1010T>A (p.Ile337Asn) n.1283T>A c.1055T>A (p.Ile352Asn) c.1304T>A (p.Ile435Asn) c.1118T>A (p.Ile373Asn) c.956T>A (p.Ile319Asn) c.1265T>A (p.Ile422Asn) c.1100T>A (p.Ile367Asn) c.1349T>A (p.Ile450Asn) c.1163T>A (p.Ile388Asn) n.1280T>A | |
13 | g.113118869T>C | CA388786960 | F7 | c.1196T>C (p.Ile399Thr) c.1262T>C (p.Ile421Thr) c.1010T>C (p.Ile337Thr) n.1283T>C c.1055T>C (p.Ile352Thr) c.1304T>C (p.Ile435Thr) c.1118T>C (p.Ile373Thr) c.956T>C (p.Ile319Thr) c.1265T>C (p.Ile422Thr) c.1100T>C (p.Ile367Thr) c.1349T>C (p.Ile450Thr) c.1163T>C (p.Ile388Thr) n.1280T>C | |
13 | g.113118869T>G | CA388786961 | F7 | c.1196T>G (p.Ile399Ser) c.1262T>G (p.Ile421Ser) c.1010T>G (p.Ile337Ser) n.1283T>G c.1055T>G (p.Ile352Ser) c.1304T>G (p.Ile435Ser) c.1118T>G (p.Ile373Ser) c.956T>G (p.Ile319Ser) c.1265T>G (p.Ile422Ser) c.1100T>G (p.Ile367Ser) c.1349T>G (p.Ile450Ser) c.1163T>G (p.Ile388Ser) n.1280T>G | |
13 | g.113118869dup | CA2695218994 | F7 | c.1196dup (p.Val400ArgfsTer?) c.1262dup (p.Val422ArgfsTer?) c.1010dup (p.Val338ArgfsTer?) n.1283dup c.1055dup (p.Val353ArgfsTer?) c.1304dup (p.Val436ArgfsTer?) c.1118dup (p.Val374ArgfsTer?) c.956dup (p.Val320ArgfsTer?) c.1265dup (p.Val423ArgfsTer?) c.1100dup (p.Val368ArgfsTer?) c.1349dup (p.Val451ArgfsTer?) c.1163dup (p.Val389ArgfsTer?) n.1280dup | |
13 | g.113118870C>A | CA485021229 | F7 | c.1197C>A (p.Ile399=) c.1263C>A (p.Ile421=) c.1011C>A (p.Ile337=) n.1284C>A c.1056C>A (p.Ile352=) c.1305C>A (p.Ile435=) c.1119C>A (p.Ile373=) c.957C>A (p.Ile319=) c.1266C>A (p.Ile422=) c.1101C>A (p.Ile367=) c.1350C>A (p.Ile450=) c.1164C>A (p.Ile388=) n.1281C>A | COSMIC COSMIC |
13 | g.113118870C= | CA2120142854 | F7 | c.1197C= (p.Ile399=) c.1263C= (p.Ile421=) c.1011C= (p.Ile337=) n.1284C= c.1056C= (p.Ile352=) c.1305C= (p.Ile435=) c.1119C= (p.Ile373=) c.957C= (p.Ile319=) c.1266C= (p.Ile422=) c.1101C= (p.Ile367=) c.1350C= (p.Ile450=) c.1164C= (p.Ile388=) n.1281C= | |
13 | g.113118870C>G | CA388786962 | F7 | c.1197C>G (p.Ile399Met) c.1263C>G (p.Ile421Met) c.1011C>G (p.Ile337Met) n.1284C>G c.1056C>G (p.Ile352Met) c.1305C>G (p.Ile435Met) c.1119C>G (p.Ile373Met) c.957C>G (p.Ile319Met) c.1266C>G (p.Ile422Met) c.1101C>G (p.Ile367Met) c.1350C>G (p.Ile450Met) c.1164C>G (p.Ile388Met) n.1281C>G | |
13 | g.113118870C>T | CA7060249 | F7 | c.1197C>T (p.Ile399=) c.1263C>T (p.Ile421=) c.1011C>T (p.Ile337=) n.1284C>T c.1056C>T (p.Ile352=) c.1305C>T (p.Ile435=) c.1119C>T (p.Ile373=) c.957C>T (p.Ile319=) c.1266C>T (p.Ile422=) c.1101C>T (p.Ile367=) c.1350C>T (p.Ile450=) c.1164C>T (p.Ile388=) n.1281C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118871G>A | CA7060250 | F7 | c.1198G>A (p.Val400Ile) c.1264G>A (p.Val422Ile) c.1012G>A (p.Val338Ile) n.1285G>A c.1057G>A (p.Val353Ile) c.1306G>A (p.Val436Ile) c.1120G>A (p.Val374Ile) c.958G>A (p.Val320Ile) c.1267G>A (p.Val423Ile) c.1102G>A (p.Val368Ile) c.1351G>A (p.Val451Ile) c.1165G>A (p.Val389Ile) n.1282G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118871G>C | CA388786963 | F7 | c.1198G>C (p.Val400Leu) c.1264G>C (p.Val422Leu) c.1012G>C (p.Val338Leu) n.1285G>C c.1057G>C (p.Val353Leu) c.1306G>C (p.Val436Leu) c.1120G>C (p.Val374Leu) c.958G>C (p.Val320Leu) c.1267G>C (p.Val423Leu) c.1102G>C (p.Val368Leu) c.1351G>C (p.Val451Leu) c.1165G>C (p.Val389Leu) n.1282G>C | |
13 | g.113118871G= | CA2120142869 | F7 | c.1198G= (p.Val400=) c.1264G= (p.Val422=) c.1012G= (p.Val338=) n.1285G= c.1057G= (p.Val353=) c.1306G= (p.Val436=) c.1120G= (p.Val374=) c.958G= (p.Val320=) c.1267G= (p.Val423=) c.1102G= (p.Val368=) c.1351G= (p.Val451=) c.1165G= (p.Val389=) n.1282G= | |
13 | g.113118871G>T | CA388786964 | F7 | c.1198G>T (p.Val400Phe) c.1264G>T (p.Val422Phe) c.1012G>T (p.Val338Phe) n.1285G>T c.1057G>T (p.Val353Phe) c.1306G>T (p.Val436Phe) c.1120G>T (p.Val374Phe) c.958G>T (p.Val320Phe) c.1267G>T (p.Val423Phe) c.1102G>T (p.Val368Phe) c.1351G>T (p.Val451Phe) c.1165G>T (p.Val389Phe) n.1282G>T | |
13 | g.113118872T>A | CA388786965 | F7 | c.1199T>A (p.Val400Asp) c.1265T>A (p.Val422Asp) c.1013T>A (p.Val338Asp) n.1286T>A c.1058T>A (p.Val353Asp) c.1307T>A (p.Val436Asp) c.1121T>A (p.Val374Asp) c.959T>A (p.Val320Asp) c.1268T>A (p.Val423Asp) c.1103T>A (p.Val368Asp) c.1352T>A (p.Val451Asp) c.1166T>A (p.Val389Asp) n.1283T>A | |
13 | g.113118872T>C | CA388786966 | F7 | c.1199T>C (p.Val400Ala) c.1265T>C (p.Val422Ala) c.1013T>C (p.Val338Ala) n.1286T>C c.1058T>C (p.Val353Ala) c.1307T>C (p.Val436Ala) c.1121T>C (p.Val374Ala) c.959T>C (p.Val320Ala) c.1268T>C (p.Val423Ala) c.1103T>C (p.Val368Ala) c.1352T>C (p.Val451Ala) c.1166T>C (p.Val389Ala) n.1283T>C | |
13 | g.113118872T>G | CA388786967 | F7 | c.1199T>G (p.Val400Gly) c.1265T>G (p.Val422Gly) c.1013T>G (p.Val338Gly) n.1286T>G c.1058T>G (p.Val353Gly) c.1307T>G (p.Val436Gly) c.1121T>G (p.Val374Gly) c.959T>G (p.Val320Gly) c.1268T>G (p.Val423Gly) c.1103T>G (p.Val368Gly) c.1352T>G (p.Val451Gly) c.1166T>G (p.Val389Gly) n.1283T>G | |
13 | g.113118873C>A | CA485021230 | F7 | c.1200C>A (p.Val400=) c.1266C>A (p.Val422=) c.1014C>A (p.Val338=) n.1287C>A c.1059C>A (p.Val353=) c.1308C>A (p.Val436=) c.1122C>A (p.Val374=) c.960C>A (p.Val320=) c.1269C>A (p.Val423=) c.1104C>A (p.Val368=) c.1353C>A (p.Val451=) c.1167C>A (p.Val389=) n.1284C>A | |
13 | g.113118873C>G | CA485021231 | F7 | c.1200C>G (p.Val400=) c.1266C>G (p.Val422=) c.1014C>G (p.Val338=) n.1287C>G c.1059C>G (p.Val353=) c.1308C>G (p.Val436=) c.1122C>G (p.Val374=) c.960C>G (p.Val320=) c.1269C>G (p.Val423=) c.1104C>G (p.Val368=) c.1353C>G (p.Val451=) c.1167C>G (p.Val389=) n.1284C>G | |
13 | g.113118873C>T | CA485021232 | F7 | c.1200C>T (p.Val400=) c.1266C>T (p.Val422=) c.1014C>T (p.Val338=) n.1287C>T c.1059C>T (p.Val353=) c.1308C>T (p.Val436=) c.1122C>T (p.Val374=) c.960C>T (p.Val320=) c.1269C>T (p.Val423=) c.1104C>T (p.Val368=) c.1353C>T (p.Val451=) c.1167C>T (p.Val389=) n.1284C>T | |
13 | g.113118874A>C | CA388786968 | F7 | c.1201A>C (p.Ser401Arg) c.1267A>C (p.Ser423Arg) c.1015A>C (p.Ser339Arg) n.1288A>C c.1060A>C (p.Ser354Arg) c.1309A>C (p.Ser437Arg) c.1123A>C (p.Ser375Arg) c.961A>C (p.Ser321Arg) c.1270A>C (p.Ser424Arg) c.1105A>C (p.Ser369Arg) c.1354A>C (p.Ser452Arg) c.1168A>C (p.Ser390Arg) n.1285A>C | |
13 | g.113118874A>G | CA388786970 | F7 | c.1201A>G (p.Ser401Gly) c.1267A>G (p.Ser423Gly) c.1015A>G (p.Ser339Gly) n.1288A>G c.1060A>G (p.Ser354Gly) c.1309A>G (p.Ser437Gly) c.1123A>G (p.Ser375Gly) c.961A>G (p.Ser321Gly) c.1270A>G (p.Ser424Gly) c.1105A>G (p.Ser369Gly) c.1354A>G (p.Ser452Gly) c.1168A>G (p.Ser390Gly) n.1285A>G | |
13 | g.113118874A>T | CA388786969 | F7 | c.1201A>T (p.Ser401Cys) c.1267A>T (p.Ser423Cys) c.1015A>T (p.Ser339Cys) n.1288A>T c.1060A>T (p.Ser354Cys) c.1309A>T (p.Ser437Cys) c.1123A>T (p.Ser375Cys) c.961A>T (p.Ser321Cys) c.1270A>T (p.Ser424Cys) c.1105A>T (p.Ser369Cys) c.1354A>T (p.Ser452Cys) c.1168A>T (p.Ser390Cys) n.1285A>T | |
13 | g.113118875G>A | CA388786971 | F7 | c.1202G>A (p.Ser401Asn) c.1268G>A (p.Ser423Asn) c.1016G>A (p.Ser339Asn) n.1289G>A c.1061G>A (p.Ser354Asn) c.1310G>A (p.Ser437Asn) c.1124G>A (p.Ser375Asn) c.962G>A (p.Ser321Asn) c.1271G>A (p.Ser424Asn) c.1106G>A (p.Ser369Asn) c.1355G>A (p.Ser452Asn) c.1169G>A (p.Ser390Asn) n.1286G>A | |
13 | g.113118875G>C | CA388786972 | F7 | c.1202G>C (p.Ser401Thr) c.1268G>C (p.Ser423Thr) c.1016G>C (p.Ser339Thr) n.1289G>C c.1061G>C (p.Ser354Thr) c.1310G>C (p.Ser437Thr) c.1124G>C (p.Ser375Thr) c.962G>C (p.Ser321Thr) c.1271G>C (p.Ser424Thr) c.1106G>C (p.Ser369Thr) c.1355G>C (p.Ser452Thr) c.1169G>C (p.Ser390Thr) n.1286G>C | |
13 | g.113118875G>T | CA388786973 | F7 | c.1202G>T (p.Ser401Ile) c.1268G>T (p.Ser423Ile) c.1016G>T (p.Ser339Ile) n.1289G>T c.1061G>T (p.Ser354Ile) c.1310G>T (p.Ser437Ile) c.1124G>T (p.Ser375Ile) c.962G>T (p.Ser321Ile) c.1271G>T (p.Ser424Ile) c.1106G>T (p.Ser369Ile) c.1355G>T (p.Ser452Ile) c.1169G>T (p.Ser390Ile) n.1286G>T | |
13 | g.113118876C>A | CA388786974 | F7 | c.1203C>A (p.Ser401Arg) c.1269C>A (p.Ser423Arg) c.1017C>A (p.Ser339Arg) n.1290C>A c.1062C>A (p.Ser354Arg) c.1311C>A (p.Ser437Arg) c.1125C>A (p.Ser375Arg) c.963C>A (p.Ser321Arg) c.1272C>A (p.Ser424Arg) c.1107C>A (p.Ser369Arg) c.1356C>A (p.Ser452Arg) c.1170C>A (p.Ser390Arg) n.1287C>A | |
13 | g.113118876C>G | CA388786975 | F7 | c.1203C>G (p.Ser401Arg) c.1269C>G (p.Ser423Arg) c.1017C>G (p.Ser339Arg) n.1290C>G c.1062C>G (p.Ser354Arg) c.1311C>G (p.Ser437Arg) c.1125C>G (p.Ser375Arg) c.963C>G (p.Ser321Arg) c.1272C>G (p.Ser424Arg) c.1107C>G (p.Ser369Arg) c.1356C>G (p.Ser452Arg) c.1170C>G (p.Ser390Arg) n.1287C>G | |
13 | g.113118876C>T | CA485021233 | F7 | c.1203C>T (p.Ser401=) c.1269C>T (p.Ser423=) c.1017C>T (p.Ser339=) n.1290C>T c.1062C>T (p.Ser354=) c.1311C>T (p.Ser437=) c.1125C>T (p.Ser375=) c.963C>T (p.Ser321=) c.1272C>T (p.Ser424=) c.1107C>T (p.Ser369=) c.1356C>T (p.Ser452=) c.1170C>T (p.Ser390=) n.1287C>T | |
13 | g.113118877del | CA2575461754 | F7 | c.1204del (p.Trp402GlyfsTer?) c.1270del (p.Trp424GlyfsTer?) c.1018del (p.Trp340GlyfsTer?) n.1291del c.1063del (p.Trp355GlyfsTer?) c.1312del (p.Trp438GlyfsTer?) c.1126del (p.Trp376GlyfsTer?) c.964del (p.Trp322GlyfsTer?) c.1273del (p.Trp425GlyfsTer?) c.1108del (p.Trp370GlyfsTer?) c.1357del (p.Trp453GlyfsTer?) c.1171del (p.Trp391GlyfsTer?) n.1288del | |
13 | g.113118877T>A | CA388786976 | F7 | c.1204T>A (p.Trp402Arg) c.1270T>A (p.Trp424Arg) c.1018T>A (p.Trp340Arg) n.1291T>A c.1063T>A (p.Trp355Arg) c.1312T>A (p.Trp438Arg) c.1126T>A (p.Trp376Arg) c.964T>A (p.Trp322Arg) c.1273T>A (p.Trp425Arg) c.1108T>A (p.Trp370Arg) c.1357T>A (p.Trp453Arg) c.1171T>A (p.Trp391Arg) n.1288T>A | |
13 | g.113118877T>C | CA388786977 | F7 | c.1204T>C (p.Trp402Arg) c.1270T>C (p.Trp424Arg) c.1018T>C (p.Trp340Arg) n.1291T>C c.1063T>C (p.Trp355Arg) c.1312T>C (p.Trp438Arg) c.1126T>C (p.Trp376Arg) c.964T>C (p.Trp322Arg) c.1273T>C (p.Trp425Arg) c.1108T>C (p.Trp370Arg) c.1357T>C (p.Trp453Arg) c.1171T>C (p.Trp391Arg) n.1288T>C | |
13 | g.113118877T>G | CA388786978 | F7 | c.1204T>G (p.Trp402Gly) c.1270T>G (p.Trp424Gly) c.1018T>G (p.Trp340Gly) n.1291T>G c.1063T>G (p.Trp355Gly) c.1312T>G (p.Trp438Gly) c.1126T>G (p.Trp376Gly) c.964T>G (p.Trp322Gly) c.1273T>G (p.Trp425Gly) c.1108T>G (p.Trp370Gly) c.1357T>G (p.Trp453Gly) c.1171T>G (p.Trp391Gly) n.1288T>G | |
13 | g.113118878G>A | CA388786979 | F7 | c.1205G>A (p.Trp402Ter) c.1271G>A (p.Trp424Ter) c.1019G>A (p.Trp340Ter) n.1292G>A c.1064G>A (p.Trp355Ter) c.1313G>A (p.Trp438Ter) c.1127G>A (p.Trp376Ter) c.965G>A (p.Trp322Ter) c.1274G>A (p.Trp425Ter) c.1109G>A (p.Trp370Ter) c.1358G>A (p.Trp453Ter) c.1172G>A (p.Trp391Ter) n.1289G>A | |
13 | g.113118878G>C | CA388786980 | F7 | c.1205G>C (p.Trp402Ser) c.1271G>C (p.Trp424Ser) c.1019G>C (p.Trp340Ser) n.1292G>C c.1064G>C (p.Trp355Ser) c.1313G>C (p.Trp438Ser) c.1127G>C (p.Trp376Ser) c.965G>C (p.Trp322Ser) c.1274G>C (p.Trp425Ser) c.1109G>C (p.Trp370Ser) c.1358G>C (p.Trp453Ser) c.1172G>C (p.Trp391Ser) n.1289G>C | |
13 | g.113118878G>T | CA388786981 | F7 | c.1205G>T (p.Trp402Leu) c.1271G>T (p.Trp424Leu) c.1019G>T (p.Trp340Leu) n.1292G>T c.1064G>T (p.Trp355Leu) c.1313G>T (p.Trp438Leu) c.1127G>T (p.Trp376Leu) c.965G>T (p.Trp322Leu) c.1274G>T (p.Trp425Leu) c.1109G>T (p.Trp370Leu) c.1358G>T (p.Trp453Leu) c.1172G>T (p.Trp391Leu) n.1289G>T | gnomAD v4 |
13 | g.113118878_113118879delinsTT | CA2695218995 | F7 | c.1205_1206delinsTT (p.Trp402Phe) c.1271_1272delinsTT (p.Trp424Phe) c.1019_1020delinsTT (p.Trp340Phe) n.1292_1293delinsTT c.1064_1065delinsTT (p.Trp355Phe) c.1313_1314delinsTT (p.Trp438Phe) c.1127_1128delinsTT (p.Trp376Phe) c.965_966delinsTT (p.Trp322Phe) c.1274_1275delinsTT (p.Trp425Phe) c.1109_1110delinsTT (p.Trp370Phe) c.1358_1359delinsTT (p.Trp453Phe) c.1172_1173delinsTT (p.Trp391Phe) n.1289_1290delinsTT | |
13 | g.113118879G>A | CA388786983 | F7 | c.1206G>A (p.Trp402Ter) c.1272G>A (p.Trp424Ter) c.1020G>A (p.Trp340Ter) n.1293G>A c.1065G>A (p.Trp355Ter) c.1314G>A (p.Trp438Ter) c.1128G>A (p.Trp376Ter) c.966G>A (p.Trp322Ter) c.1275G>A (p.Trp425Ter) c.1110G>A (p.Trp370Ter) c.1359G>A (p.Trp453Ter) c.1173G>A (p.Trp391Ter) n.1290G>A | ClinVar gnomAD v4 |
13 | g.113118879G>C | CA388786984 | F7 | c.1206G>C (p.Trp402Cys) c.1272G>C (p.Trp424Cys) c.1020G>C (p.Trp340Cys) n.1293G>C c.1065G>C (p.Trp355Cys) c.1314G>C (p.Trp438Cys) c.1128G>C (p.Trp376Cys) c.966G>C (p.Trp322Cys) c.1275G>C (p.Trp425Cys) c.1110G>C (p.Trp370Cys) c.1359G>C (p.Trp453Cys) c.1173G>C (p.Trp391Cys) n.1290G>C | gnomAD v4 |
13 | g.113118879G>T | CA388786982 | F7 | c.1206G>T (p.Trp402Cys) c.1272G>T (p.Trp424Cys) c.1020G>T (p.Trp340Cys) n.1293G>T c.1065G>T (p.Trp355Cys) c.1314G>T (p.Trp438Cys) c.1128G>T (p.Trp376Cys) c.966G>T (p.Trp322Cys) c.1275G>T (p.Trp425Cys) c.1110G>T (p.Trp370Cys) c.1359G>T (p.Trp453Cys) c.1173G>T (p.Trp391Cys) n.1290G>T | gnomAD v4 |
13 | g.113118880G>A | CA388786986 | F7 | c.1207G>A (p.Gly403Ser) c.1273G>A (p.Gly425Ser) c.1021G>A (p.Gly341Ser) n.1294G>A c.1066G>A (p.Gly356Ser) c.1315G>A (p.Gly439Ser) c.1129G>A (p.Gly377Ser) c.967G>A (p.Gly323Ser) c.1276G>A (p.Gly426Ser) c.1111G>A (p.Gly371Ser) c.1360G>A (p.Gly454Ser) c.1174G>A (p.Gly392Ser) n.1291G>A | gnomAD v4 |
13 | g.113118880G>C | CA388786985 | F7 | c.1207G>C (p.Gly403Arg) c.1273G>C (p.Gly425Arg) c.1021G>C (p.Gly341Arg) n.1294G>C c.1066G>C (p.Gly356Arg) c.1315G>C (p.Gly439Arg) c.1129G>C (p.Gly377Arg) c.967G>C (p.Gly323Arg) c.1276G>C (p.Gly426Arg) c.1111G>C (p.Gly371Arg) c.1360G>C (p.Gly454Arg) c.1174G>C (p.Gly392Arg) n.1291G>C | |
13 | g.113118880G= | CA2120142872 | F7 | c.1207G= (p.Gly403=) c.1273G= (p.Gly425=) c.1021G= (p.Gly341=) n.1294G= c.1066G= (p.Gly356=) c.1315G= (p.Gly439=) c.1129G= (p.Gly377=) c.967G= (p.Gly323=) c.1276G= (p.Gly426=) c.1111G= (p.Gly371=) c.1360G= (p.Gly454=) c.1174G= (p.Gly392=) n.1291G= | |
13 | g.113118880G>T | CA388786987 | F7 | c.1207G>T (p.Gly403Cys) c.1273G>T (p.Gly425Cys) c.1021G>T (p.Gly341Cys) n.1294G>T c.1066G>T (p.Gly356Cys) c.1315G>T (p.Gly439Cys) c.1129G>T (p.Gly377Cys) c.967G>T (p.Gly323Cys) c.1276G>T (p.Gly426Cys) c.1111G>T (p.Gly371Cys) c.1360G>T (p.Gly454Cys) c.1174G>T (p.Gly392Cys) n.1291G>T | dbSNP |
13 | g.113118881G>A | CA388786988 | F7 | c.1208G>A (p.Gly403Asp) c.1274G>A (p.Gly425Asp) c.1022G>A (p.Gly341Asp) n.1295G>A c.1067G>A (p.Gly356Asp) c.1316G>A (p.Gly439Asp) c.1130G>A (p.Gly377Asp) c.968G>A (p.Gly323Asp) c.1277G>A (p.Gly426Asp) c.1112G>A (p.Gly371Asp) c.1361G>A (p.Gly454Asp) c.1175G>A (p.Gly392Asp) n.1292G>A | |
13 | g.113118881G>C | CA388786989 | F7 | c.1208G>C (p.Gly403Ala) c.1274G>C (p.Gly425Ala) c.1022G>C (p.Gly341Ala) n.1295G>C c.1067G>C (p.Gly356Ala) c.1316G>C (p.Gly439Ala) c.1130G>C (p.Gly377Ala) c.968G>C (p.Gly323Ala) c.1277G>C (p.Gly426Ala) c.1112G>C (p.Gly371Ala) c.1361G>C (p.Gly454Ala) c.1175G>C (p.Gly392Ala) n.1292G>C | |
13 | g.113118881G>T | CA388786990 | F7 | c.1208G>T (p.Gly403Val) c.1274G>T (p.Gly425Val) c.1022G>T (p.Gly341Val) n.1295G>T c.1067G>T (p.Gly356Val) c.1316G>T (p.Gly439Val) c.1130G>T (p.Gly377Val) c.968G>T (p.Gly323Val) c.1277G>T (p.Gly426Val) c.1112G>T (p.Gly371Val) c.1361G>T (p.Gly454Val) c.1175G>T (p.Gly392Val) n.1292G>T | |
13 | g.113118882C>A | CA485021234 | F7 | c.1209C>A (p.Gly403=) c.1275C>A (p.Gly425=) c.1023C>A (p.Gly341=) n.1296C>A c.1068C>A (p.Gly356=) c.1317C>A (p.Gly439=) c.1131C>A (p.Gly377=) c.969C>A (p.Gly323=) c.1278C>A (p.Gly426=) c.1113C>A (p.Gly371=) c.1362C>A (p.Gly454=) c.1176C>A (p.Gly392=) n.1293C>A | |
13 | g.113118882C>G | CA485021235 | F7 | c.1209C>G (p.Gly403=) c.1275C>G (p.Gly425=) c.1023C>G (p.Gly341=) n.1296C>G c.1068C>G (p.Gly356=) c.1317C>G (p.Gly439=) c.1131C>G (p.Gly377=) c.969C>G (p.Gly323=) c.1278C>G (p.Gly426=) c.1113C>G (p.Gly371=) c.1362C>G (p.Gly454=) c.1176C>G (p.Gly392=) n.1293C>G | |
13 | g.113118882C>T | CA485021236 | F7 | c.1209C>T (p.Gly403=) c.1275C>T (p.Gly425=) c.1023C>T (p.Gly341=) n.1296C>T c.1068C>T (p.Gly356=) c.1317C>T (p.Gly439=) c.1131C>T (p.Gly377=) c.969C>T (p.Gly323=) c.1278C>T (p.Gly426=) c.1113C>T (p.Gly371=) c.1362C>T (p.Gly454=) c.1176C>T (p.Gly392=) n.1293C>T | |
13 | g.113118883C>A | CA388786991 | F7 | c.1210C>A (p.Gln404Lys) c.1276C>A (p.Gln426Lys) c.1024C>A (p.Gln342Lys) n.1297C>A c.1069C>A (p.Gln357Lys) c.1318C>A (p.Gln440Lys) c.1132C>A (p.Gln378Lys) c.970C>A (p.Gln324Lys) c.1279C>A (p.Gln427Lys) c.1114C>A (p.Gln372Lys) c.1363C>A (p.Gln455Lys) c.1177C>A (p.Gln393Lys) n.1294C>A | dbSNP |
13 | g.113118883C>G | CA388786992 | F7 | c.1210C>G (p.Gln404Glu) c.1276C>G (p.Gln426Glu) c.1024C>G (p.Gln342Glu) n.1297C>G c.1069C>G (p.Gln357Glu) c.1318C>G (p.Gln440Glu) c.1132C>G (p.Gln378Glu) c.970C>G (p.Gln324Glu) c.1279C>G (p.Gln427Glu) c.1114C>G (p.Gln372Glu) c.1363C>G (p.Gln455Glu) c.1177C>G (p.Gln393Glu) n.1294C>G | |
13 | g.113118883C>T | CA388786993 | F7 | c.1210C>T (p.Gln404Ter) c.1276C>T (p.Gln426Ter) c.1024C>T (p.Gln342Ter) n.1297C>T c.1069C>T (p.Gln357Ter) c.1318C>T (p.Gln440Ter) c.1132C>T (p.Gln378Ter) c.970C>T (p.Gln324Ter) c.1279C>T (p.Gln427Ter) c.1114C>T (p.Gln372Ter) c.1363C>T (p.Gln455Ter) c.1177C>T (p.Gln393Ter) n.1294C>T | gnomAD v4 |