WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.113118772T>A | CA388786529 | F7 | c.1099T>A (p.Cys367Ser) c.1165T>A (p.Cys389Ser) c.913T>A (p.Cys305Ser) n.1186T>A c.958T>A (p.Cys320Ser) c.1207T>A (p.Cys403Ser) c.1021T>A (p.Cys341Ser) c.859T>A (p.Cys287Ser) c.1168T>A (p.Cys390Ser) c.1003T>A (p.Cys335Ser) c.1252T>A (p.Cys418Ser) c.1066T>A (p.Cys356Ser) n.1183T>A | |
| 13 | g.113118772T>C | CA7060234 | F7 | c.1099T>C (p.Cys367Arg) c.1165T>C (p.Cys389Arg) c.913T>C (p.Cys305Arg) n.1186T>C c.958T>C (p.Cys320Arg) c.1207T>C (p.Cys403Arg) c.1021T>C (p.Cys341Arg) c.859T>C (p.Cys287Arg) c.1168T>C (p.Cys390Arg) c.1003T>C (p.Cys335Arg) c.1252T>C (p.Cys418Arg) c.1066T>C (p.Cys356Arg) n.1183T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118772T>G | CA121860 | F7 | c.1099T>G (p.Cys367Gly) c.1165T>G (p.Cys389Gly) c.913T>G (p.Cys305Gly) n.1186T>G c.958T>G (p.Cys320Gly) c.1207T>G (p.Cys403Gly) c.1021T>G (p.Cys341Gly) c.859T>G (p.Cys287Gly) c.1168T>G (p.Cys390Gly) c.1003T>G (p.Cys335Gly) c.1252T>G (p.Cys418Gly) c.1066T>G (p.Cys356Gly) n.1183T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118772T= | CA2120142664 | F7 | c.1099T= (p.Cys367=) c.1165T= (p.Cys389=) c.913T= (p.Cys305=) n.1186T= c.958T= (p.Cys320=) c.1207T= (p.Cys403=) c.1021T= (p.Cys341=) c.859T= (p.Cys287=) c.1168T= (p.Cys390=) c.1003T= (p.Cys335=) c.1252T= (p.Cys418=) c.1066T= (p.Cys356=) n.1183T= | |
| 13 | g.113118773G>A | CA388786534 | F7 | c.1100G>A (p.Cys367Tyr) c.1166G>A (p.Cys389Tyr) c.914G>A (p.Cys305Tyr) n.1187G>A c.959G>A (p.Cys320Tyr) c.1208G>A (p.Cys403Tyr) c.1022G>A (p.Cys341Tyr) c.860G>A (p.Cys287Tyr) c.1169G>A (p.Cys390Tyr) c.1004G>A (p.Cys335Tyr) c.1253G>A (p.Cys418Tyr) c.1067G>A (p.Cys356Tyr) n.1184G>A | gnomAD v4 |
| 13 | g.113118773G>C | CA388786532 | F7 | c.1100G>C (p.Cys367Ser) c.1166G>C (p.Cys389Ser) c.914G>C (p.Cys305Ser) n.1187G>C c.959G>C (p.Cys320Ser) c.1208G>C (p.Cys403Ser) c.1022G>C (p.Cys341Ser) c.860G>C (p.Cys287Ser) c.1169G>C (p.Cys390Ser) c.1004G>C (p.Cys335Ser) c.1253G>C (p.Cys418Ser) c.1067G>C (p.Cys356Ser) n.1184G>C | gnomAD v4 |
| 13 | g.113118773G>T | CA388786536 | F7 | c.1100G>T (p.Cys367Phe) c.1166G>T (p.Cys389Phe) c.914G>T (p.Cys305Phe) n.1187G>T c.959G>T (p.Cys320Phe) c.1208G>T (p.Cys403Phe) c.1022G>T (p.Cys341Phe) c.860G>T (p.Cys287Phe) c.1169G>T (p.Cys390Phe) c.1004G>T (p.Cys335Phe) c.1253G>T (p.Cys418Phe) c.1067G>T (p.Cys356Phe) n.1184G>T | gnomAD v4 |
| 13 | g.113118774T>A | CA388786538 | F7 | c.1101T>A (p.Cys367Ter) c.1167T>A (p.Cys389Ter) c.915T>A (p.Cys305Ter) n.1188T>A c.960T>A (p.Cys320Ter) c.1209T>A (p.Cys403Ter) c.1023T>A (p.Cys341Ter) c.861T>A (p.Cys287Ter) c.1170T>A (p.Cys390Ter) c.1005T>A (p.Cys335Ter) c.1254T>A (p.Cys418Ter) c.1068T>A (p.Cys356Ter) n.1185T>A | |
| 13 | g.113118774T>C | CA485424041 | F7 | c.1101T>C (p.Cys367=) c.1167T>C (p.Cys389=) c.915T>C (p.Cys305=) n.1188T>C c.960T>C (p.Cys320=) c.1209T>C (p.Cys403=) c.1023T>C (p.Cys341=) c.861T>C (p.Cys287=) c.1170T>C (p.Cys390=) c.1005T>C (p.Cys335=) c.1254T>C (p.Cys418=) c.1068T>C (p.Cys356=) n.1185T>C | gnomAD v4 |
| 13 | g.113118774T>G | CA388786539 | F7 | c.1101T>G (p.Cys367Trp) c.1167T>G (p.Cys389Trp) c.915T>G (p.Cys305Trp) n.1188T>G c.960T>G (p.Cys320Trp) c.1209T>G (p.Cys403Trp) c.1023T>G (p.Cys341Trp) c.861T>G (p.Cys287Trp) c.1170T>G (p.Cys390Trp) c.1005T>G (p.Cys335Trp) c.1254T>G (p.Cys418Trp) c.1068T>G (p.Cys356Trp) n.1185T>G | |
| 13 | g.113118775G>A | CA388786542 | F7 | c.1102G>A (p.Ala368Thr) c.1168G>A (p.Ala390Thr) c.916G>A (p.Ala306Thr) n.1189G>A c.961G>A (p.Ala321Thr) c.1210G>A (p.Ala404Thr) c.1024G>A (p.Ala342Thr) c.862G>A (p.Ala288Thr) c.1171G>A (p.Ala391Thr) c.1006G>A (p.Ala336Thr) c.1255G>A (p.Ala419Thr) c.1069G>A (p.Ala357Thr) n.1186G>A | COSMIC |
| 13 | g.113118775G>C | CA388786543 | F7 | c.1102G>C (p.Ala368Pro) c.1168G>C (p.Ala390Pro) c.916G>C (p.Ala306Pro) n.1189G>C c.961G>C (p.Ala321Pro) c.1210G>C (p.Ala404Pro) c.1024G>C (p.Ala342Pro) c.862G>C (p.Ala288Pro) c.1171G>C (p.Ala391Pro) c.1006G>C (p.Ala336Pro) c.1255G>C (p.Ala419Pro) c.1069G>C (p.Ala357Pro) n.1186G>C | |
| 13 | g.113118775G>T | CA388786545 | F7 | c.1102G>T (p.Ala368Ser) c.1168G>T (p.Ala390Ser) c.916G>T (p.Ala306Ser) n.1189G>T c.961G>T (p.Ala321Ser) c.1210G>T (p.Ala404Ser) c.1024G>T (p.Ala342Ser) c.862G>T (p.Ala288Ser) c.1171G>T (p.Ala391Ser) c.1006G>T (p.Ala336Ser) c.1255G>T (p.Ala419Ser) c.1069G>T (p.Ala357Ser) n.1186G>T | |
| 13 | g.113118776C>A | CA388786547 | F7 | c.1103C>A (p.Ala368Asp) c.1169C>A (p.Ala390Asp) c.917C>A (p.Ala306Asp) n.1190C>A c.962C>A (p.Ala321Asp) c.1211C>A (p.Ala404Asp) c.1025C>A (p.Ala342Asp) c.863C>A (p.Ala288Asp) c.1172C>A (p.Ala391Asp) c.1007C>A (p.Ala336Asp) c.1256C>A (p.Ala419Asp) c.1070C>A (p.Ala357Asp) n.1187C>A | |
| 13 | g.113118776C>G | CA388786549 | F7 | c.1103C>G (p.Ala368Gly) c.1169C>G (p.Ala390Gly) c.917C>G (p.Ala306Gly) n.1190C>G c.962C>G (p.Ala321Gly) c.1211C>G (p.Ala404Gly) c.1025C>G (p.Ala342Gly) c.863C>G (p.Ala288Gly) c.1172C>G (p.Ala391Gly) c.1007C>G (p.Ala336Gly) c.1256C>G (p.Ala419Gly) c.1070C>G (p.Ala357Gly) n.1187C>G | |
| 13 | g.113118776C>T | CA388786550 | F7 | c.1103C>T (p.Ala368Val) c.1169C>T (p.Ala390Val) c.917C>T (p.Ala306Val) n.1190C>T c.962C>T (p.Ala321Val) c.1211C>T (p.Ala404Val) c.1025C>T (p.Ala342Val) c.863C>T (p.Ala288Val) c.1172C>T (p.Ala391Val) c.1007C>T (p.Ala336Val) c.1256C>T (p.Ala419Val) c.1070C>T (p.Ala357Val) n.1187C>T | |
| 13 | g.113118777C>A | CA485424042 | F7 | c.1104C>A (p.Ala368=) c.1170C>A (p.Ala390=) c.918C>A (p.Ala306=) n.1191C>A c.963C>A (p.Ala321=) c.1212C>A (p.Ala404=) c.1026C>A (p.Ala342=) c.864C>A (p.Ala288=) c.1173C>A (p.Ala391=) c.1008C>A (p.Ala336=) c.1257C>A (p.Ala419=) c.1071C>A (p.Ala357=) n.1188C>A | |
| 13 | g.113118777C= | CA2018007885 | F7 | c.1104C= (p.Ala368=) c.1170C= (p.Ala390=) c.918C= (p.Ala306=) n.1191C= c.963C= (p.Ala321=) c.1212C= (p.Ala404=) c.1026C= (p.Ala342=) c.864C= (p.Ala288=) c.1173C= (p.Ala391=) c.1008C= (p.Ala336=) c.1257C= (p.Ala419=) c.1071C= (p.Ala357=) n.1188C= | |
| 13 | g.113118777C>G | CA485424043 | F7 | c.1104C>G (p.Ala368=) c.1170C>G (p.Ala390=) c.918C>G (p.Ala306=) n.1191C>G c.963C>G (p.Ala321=) c.1212C>G (p.Ala404=) c.1026C>G (p.Ala342=) c.864C>G (p.Ala288=) c.1173C>G (p.Ala391=) c.1008C>G (p.Ala336=) c.1257C>G (p.Ala419=) c.1071C>G (p.Ala357=) n.1188C>G | |
| 13 | g.113118777C>T | CA7060235 | F7 | c.1104C>T (p.Ala368=) c.1170C>T (p.Ala390=) c.918C>T (p.Ala306=) n.1191C>T c.963C>T (p.Ala321=) c.1212C>T (p.Ala404=) c.1026C>T (p.Ala342=) c.864C>T (p.Ala288=) c.1173C>T (p.Ala391=) c.1008C>T (p.Ala336=) c.1257C>T (p.Ala419=) c.1071C>T (p.Ala357=) n.1188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118778G>A | CA7060236 | F7 | c.1105G>A (p.Gly369Ser) c.1171G>A (p.Gly391Ser) c.919G>A (p.Gly307Ser) n.1192G>A c.964G>A (p.Gly322Ser) c.1213G>A (p.Gly405Ser) c.1027G>A (p.Gly343Ser) c.865G>A (p.Gly289Ser) c.1174G>A (p.Gly392Ser) c.1009G>A (p.Gly337Ser) c.1258G>A (p.Gly420Ser) c.1072G>A (p.Gly358Ser) n.1189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118778G>C | CA388786555 | F7 | c.1105G>C (p.Gly369Arg) c.1171G>C (p.Gly391Arg) c.919G>C (p.Gly307Arg) n.1192G>C c.964G>C (p.Gly322Arg) c.1213G>C (p.Gly405Arg) c.1027G>C (p.Gly343Arg) c.865G>C (p.Gly289Arg) c.1174G>C (p.Gly392Arg) c.1009G>C (p.Gly337Arg) c.1258G>C (p.Gly420Arg) c.1072G>C (p.Gly358Arg) n.1189G>C | |
| 13 | g.113118778G= | CA2120142680 | F7 | c.1105G= (p.Gly369=) c.1171G= (p.Gly391=) c.919G= (p.Gly307=) n.1192G= c.964G= (p.Gly322=) c.1213G= (p.Gly405=) c.1027G= (p.Gly343=) c.865G= (p.Gly289=) c.1174G= (p.Gly392=) c.1009G= (p.Gly337=) c.1258G= (p.Gly420=) c.1072G= (p.Gly358=) n.1189G= | |
| 13 | g.113118778G>T | CA388786557 | F7 | c.1105G>T (p.Gly369Cys) c.1171G>T (p.Gly391Cys) c.919G>T (p.Gly307Cys) n.1192G>T c.964G>T (p.Gly322Cys) c.1213G>T (p.Gly405Cys) c.1027G>T (p.Gly343Cys) c.865G>T (p.Gly289Cys) c.1174G>T (p.Gly392Cys) c.1009G>T (p.Gly337Cys) c.1258G>T (p.Gly420Cys) c.1072G>T (p.Gly358Cys) n.1189G>T | |
| 13 | g.113118779G>A | CA388786562 | F7 | c.1106G>A (p.Gly369Asp) c.1172G>A (p.Gly391Asp) c.920G>A (p.Gly307Asp) n.1193G>A c.965G>A (p.Gly322Asp) c.1214G>A (p.Gly405Asp) c.1028G>A (p.Gly343Asp) c.866G>A (p.Gly289Asp) c.1175G>A (p.Gly392Asp) c.1010G>A (p.Gly337Asp) c.1259G>A (p.Gly420Asp) c.1073G>A (p.Gly358Asp) n.1190G>A | COSMIC COSMIC |
| 13 | g.113118779G>C | CA388786563 | F7 | c.1106G>C (p.Gly369Ala) c.1172G>C (p.Gly391Ala) c.920G>C (p.Gly307Ala) n.1193G>C c.965G>C (p.Gly322Ala) c.1214G>C (p.Gly405Ala) c.1028G>C (p.Gly343Ala) c.866G>C (p.Gly289Ala) c.1175G>C (p.Gly392Ala) c.1010G>C (p.Gly337Ala) c.1259G>C (p.Gly420Ala) c.1073G>C (p.Gly358Ala) n.1190G>C | |
| 13 | g.113118779G>T | CA388786560 | F7 | c.1106G>T (p.Gly369Val) c.1172G>T (p.Gly391Val) c.920G>T (p.Gly307Val) n.1193G>T c.965G>T (p.Gly322Val) c.1214G>T (p.Gly405Val) c.1028G>T (p.Gly343Val) c.866G>T (p.Gly289Val) c.1175G>T (p.Gly392Val) c.1010G>T (p.Gly337Val) c.1259G>T (p.Gly420Val) c.1073G>T (p.Gly358Val) n.1190G>T | |
| 13 | g.113118780C>A | CA485424044 | F7 | c.1107C>A (p.Gly369=) c.1173C>A (p.Gly391=) c.921C>A (p.Gly307=) n.1194C>A c.966C>A (p.Gly322=) c.1215C>A (p.Gly405=) c.1029C>A (p.Gly343=) c.867C>A (p.Gly289=) c.1176C>A (p.Gly392=) c.1011C>A (p.Gly337=) c.1260C>A (p.Gly420=) c.1074C>A (p.Gly358=) n.1191C>A | |
| 13 | g.113118780C>G | CA485424046 | F7 | c.1107C>G (p.Gly369=) c.1173C>G (p.Gly391=) c.921C>G (p.Gly307=) n.1194C>G c.966C>G (p.Gly322=) c.1215C>G (p.Gly405=) c.1029C>G (p.Gly343=) c.867C>G (p.Gly289=) c.1176C>G (p.Gly392=) c.1011C>G (p.Gly337=) c.1260C>G (p.Gly420=) c.1074C>G (p.Gly358=) n.1191C>G | |
| 13 | g.113118780C>T | CA485424045 | F7 | c.1107C>T (p.Gly369=) c.1173C>T (p.Gly391=) c.921C>T (p.Gly307=) n.1194C>T c.966C>T (p.Gly322=) c.1215C>T (p.Gly405=) c.1029C>T (p.Gly343=) c.867C>T (p.Gly289=) c.1176C>T (p.Gly392=) c.1011C>T (p.Gly337=) c.1260C>T (p.Gly420=) c.1074C>T (p.Gly358=) n.1191C>T | |
| 13 | g.113118781T>A | CA388786567 | F7 | c.1108T>A (p.Tyr370Asn) c.1174T>A (p.Tyr392Asn) c.922T>A (p.Tyr308Asn) n.1195T>A c.967T>A (p.Tyr323Asn) c.1216T>A (p.Tyr406Asn) c.1030T>A (p.Tyr344Asn) c.868T>A (p.Tyr290Asn) c.1177T>A (p.Tyr393Asn) c.1012T>A (p.Tyr338Asn) c.1261T>A (p.Tyr421Asn) c.1075T>A (p.Tyr359Asn) n.1192T>A | |
| 13 | g.113118781T>C | CA388786568 | F7 | c.1108T>C (p.Tyr370His) c.1174T>C (p.Tyr392His) c.922T>C (p.Tyr308His) n.1195T>C c.967T>C (p.Tyr323His) c.1216T>C (p.Tyr406His) c.1030T>C (p.Tyr344His) c.868T>C (p.Tyr290His) c.1177T>C (p.Tyr393His) c.1012T>C (p.Tyr338His) c.1261T>C (p.Tyr421His) c.1075T>C (p.Tyr359His) n.1192T>C | |
| 13 | g.113118781T>G | CA388786570 | F7 | c.1108T>G (p.Tyr370Asp) c.1174T>G (p.Tyr392Asp) c.922T>G (p.Tyr308Asp) n.1195T>G c.967T>G (p.Tyr323Asp) c.1216T>G (p.Tyr406Asp) c.1030T>G (p.Tyr344Asp) c.868T>G (p.Tyr290Asp) c.1177T>G (p.Tyr393Asp) c.1012T>G (p.Tyr338Asp) c.1261T>G (p.Tyr421Asp) c.1075T>G (p.Tyr359Asp) n.1192T>G | |
| 13 | g.113118782A>C | CA388786573 | F7 | c.1109A>C (p.Tyr370Ser) c.1175A>C (p.Tyr392Ser) c.923A>C (p.Tyr308Ser) n.1196A>C c.968A>C (p.Tyr323Ser) c.1217A>C (p.Tyr406Ser) c.1031A>C (p.Tyr344Ser) c.869A>C (p.Tyr290Ser) c.1178A>C (p.Tyr393Ser) c.1013A>C (p.Tyr338Ser) c.1262A>C (p.Tyr421Ser) c.1076A>C (p.Tyr359Ser) n.1193A>C | |
| 13 | g.113118782A>G | CA388786574 | F7 | c.1109A>G (p.Tyr370Cys) c.1175A>G (p.Tyr392Cys) c.923A>G (p.Tyr308Cys) n.1196A>G c.968A>G (p.Tyr323Cys) c.1217A>G (p.Tyr406Cys) c.1031A>G (p.Tyr344Cys) c.869A>G (p.Tyr290Cys) c.1178A>G (p.Tyr393Cys) c.1013A>G (p.Tyr338Cys) c.1262A>G (p.Tyr421Cys) c.1076A>G (p.Tyr359Cys) n.1193A>G | gnomAD v4 |
| 13 | g.113118782A>T | CA388786577 | F7 | c.1109A>T (p.Tyr370Phe) c.1175A>T (p.Tyr392Phe) c.923A>T (p.Tyr308Phe) n.1196A>T c.968A>T (p.Tyr323Phe) c.1217A>T (p.Tyr406Phe) c.1031A>T (p.Tyr344Phe) c.869A>T (p.Tyr290Phe) c.1178A>T (p.Tyr393Phe) c.1013A>T (p.Tyr338Phe) c.1262A>T (p.Tyr421Phe) c.1076A>T (p.Tyr359Phe) n.1193A>T | |
| 13 | g.113118783C>A | CA388786579 | F7 | c.1110C>A (p.Tyr370Ter) c.1176C>A (p.Tyr392Ter) c.924C>A (p.Tyr308Ter) n.1197C>A c.969C>A (p.Tyr323Ter) c.1218C>A (p.Tyr406Ter) c.1032C>A (p.Tyr344Ter) c.870C>A (p.Tyr290Ter) c.1179C>A (p.Tyr393Ter) c.1014C>A (p.Tyr338Ter) c.1263C>A (p.Tyr421Ter) c.1077C>A (p.Tyr359Ter) n.1194C>A | |
| 13 | g.113118783C>G | CA388786581 | F7 | c.1110C>G (p.Tyr370Ter) c.1176C>G (p.Tyr392Ter) c.924C>G (p.Tyr308Ter) n.1197C>G c.969C>G (p.Tyr323Ter) c.1218C>G (p.Tyr406Ter) c.1032C>G (p.Tyr344Ter) c.870C>G (p.Tyr290Ter) c.1179C>G (p.Tyr393Ter) c.1014C>G (p.Tyr338Ter) c.1263C>G (p.Tyr421Ter) c.1077C>G (p.Tyr359Ter) n.1194C>G | |
| 13 | g.113118783C>T | CA485424047 | F7 | c.1110C>T (p.Tyr370=) c.1176C>T (p.Tyr392=) c.924C>T (p.Tyr308=) n.1197C>T c.969C>T (p.Tyr323=) c.1218C>T (p.Tyr406=) c.1032C>T (p.Tyr344=) c.870C>T (p.Tyr290=) c.1179C>T (p.Tyr393=) c.1014C>T (p.Tyr338=) c.1263C>T (p.Tyr421=) c.1077C>T (p.Tyr359=) n.1194C>T | |
| 13 | g.113118784T>A | CA388786584 | F7 | c.1111T>A (p.Ser371Thr) c.1177T>A (p.Ser393Thr) c.925T>A (p.Ser309Thr) n.1198T>A c.970T>A (p.Ser324Thr) c.1219T>A (p.Ser407Thr) c.1033T>A (p.Ser345Thr) c.871T>A (p.Ser291Thr) c.1180T>A (p.Ser394Thr) c.1015T>A (p.Ser339Thr) c.1264T>A (p.Ser422Thr) c.1078T>A (p.Ser360Thr) n.1195T>A | |
| 13 | g.113118784T>C | CA388786585 | F7 | c.1111T>C (p.Ser371Pro) c.1177T>C (p.Ser393Pro) c.925T>C (p.Ser309Pro) n.1198T>C c.970T>C (p.Ser324Pro) c.1219T>C (p.Ser407Pro) c.1033T>C (p.Ser345Pro) c.871T>C (p.Ser291Pro) c.1180T>C (p.Ser394Pro) c.1015T>C (p.Ser339Pro) c.1264T>C (p.Ser422Pro) c.1078T>C (p.Ser360Pro) n.1195T>C | |
| 13 | g.113118784T>G | CA388786587 | F7 | c.1111T>G (p.Ser371Ala) c.1177T>G (p.Ser393Ala) c.925T>G (p.Ser309Ala) n.1198T>G c.970T>G (p.Ser324Ala) c.1219T>G (p.Ser407Ala) c.1033T>G (p.Ser345Ala) c.871T>G (p.Ser291Ala) c.1180T>G (p.Ser394Ala) c.1015T>G (p.Ser339Ala) c.1264T>G (p.Ser422Ala) c.1078T>G (p.Ser360Ala) n.1195T>G | |
| 13 | g.113118785C>A | CA388786589 | F7 | c.1112C>A (p.Ser371Ter) c.1178C>A (p.Ser393Ter) c.926C>A (p.Ser309Ter) n.1199C>A c.971C>A (p.Ser324Ter) c.1220C>A (p.Ser407Ter) c.1034C>A (p.Ser345Ter) c.872C>A (p.Ser291Ter) c.1181C>A (p.Ser394Ter) c.1016C>A (p.Ser339Ter) c.1265C>A (p.Ser422Ter) c.1079C>A (p.Ser360Ter) n.1196C>A | |
| 13 | g.113118785C= | CA2120142685 | F7 | c.1112C= (p.Ser371=) c.1178C= (p.Ser393=) c.926C= (p.Ser309=) n.1199C= c.971C= (p.Ser324=) c.1220C= (p.Ser407=) c.1034C= (p.Ser345=) c.872C= (p.Ser291=) c.1181C= (p.Ser394=) c.1016C= (p.Ser339=) c.1265C= (p.Ser422=) c.1079C= (p.Ser360=) n.1196C= | |
| 13 | g.113118785C>G | CA388786591 | F7 | c.1112C>G (p.Ser371Trp) c.1178C>G (p.Ser393Trp) c.926C>G (p.Ser309Trp) n.1199C>G c.971C>G (p.Ser324Trp) c.1220C>G (p.Ser407Trp) c.1034C>G (p.Ser345Trp) c.872C>G (p.Ser291Trp) c.1181C>G (p.Ser394Trp) c.1016C>G (p.Ser339Trp) c.1265C>G (p.Ser422Trp) c.1079C>G (p.Ser360Trp) n.1196C>G | |
| 13 | g.113118785C>T | CA7060237 | F7 | c.1112C>T (p.Ser371Leu) c.1178C>T (p.Ser393Leu) c.926C>T (p.Ser309Leu) n.1199C>T c.971C>T (p.Ser324Leu) c.1220C>T (p.Ser407Leu) c.1034C>T (p.Ser345Leu) c.872C>T (p.Ser291Leu) c.1181C>T (p.Ser394Leu) c.1016C>T (p.Ser339Leu) c.1265C>T (p.Ser422Leu) c.1079C>T (p.Ser360Leu) n.1196C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113118786G>A | CA7060238 | F7 | c.1113G>A (p.Ser371=) c.1179G>A (p.Ser393=) c.927G>A (p.Ser309=) n.1200G>A c.972G>A (p.Ser324=) c.1221G>A (p.Ser407=) c.1035G>A (p.Ser345=) c.873G>A (p.Ser291=) c.1182G>A (p.Ser394=) c.1017G>A (p.Ser339=) c.1266G>A (p.Ser422=) c.1080G>A (p.Ser360=) n.1197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118786G>C | CA485424048 | F7 | c.1113G>C (p.Ser371=) c.1179G>C (p.Ser393=) c.927G>C (p.Ser309=) n.1200G>C c.972G>C (p.Ser324=) c.1221G>C (p.Ser407=) c.1035G>C (p.Ser345=) c.873G>C (p.Ser291=) c.1182G>C (p.Ser394=) c.1017G>C (p.Ser339=) c.1266G>C (p.Ser422=) c.1080G>C (p.Ser360=) n.1197G>C | |
| 13 | g.113118786G= | CA2120142693 | F7 | c.1113G= (p.Ser371=) c.1179G= (p.Ser393=) c.927G= (p.Ser309=) n.1200G= c.972G= (p.Ser324=) c.1221G= (p.Ser407=) c.1035G= (p.Ser345=) c.873G= (p.Ser291=) c.1182G= (p.Ser394=) c.1017G= (p.Ser339=) c.1266G= (p.Ser422=) c.1080G= (p.Ser360=) n.1197G= |