UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40397178G>A | CA9444311 | PRX | c.1174C>T (p.Arg392Ter) c.757C>T (p.Arg253Ter) c.1459C>T (p.Arg487Ter) c.1049C>T c.1035C>T c.1136C>T c.1061C>T c.*1379C>T (n.*1379C>T) c.1072C>T (p.Arg358Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.40397178G>C | CA405898931 | PRX | c.1174C>G (p.Arg392Gly) c.757C>G (p.Arg253Gly) c.1459C>G (p.Arg487Gly) c.1049C>G c.1035C>G c.1136C>G c.1061C>G c.*1379C>G (n.*1379C>G) c.1072C>G (p.Arg358Gly) | |
| 19 | g.40397178G= | CA2335962032 | PRX | c.1174C= (p.Arg392=) c.757C= (p.Arg253=) c.1459C= (p.Arg487=) c.1049C= c.1035C= c.1136C= c.1061C= c.*1379C= (n.*1379C=) c.1072C= (p.Arg358=) | |
| 19 | g.40397178G>T | CA507679996 | PRX | c.1174C>A (p.Arg392=) c.757C>A (p.Arg253=) c.1459C>A (p.Arg487=) c.1049C>A c.1035C>A c.1136C>A c.1061C>A c.*1379C>A (n.*1379C>A) c.1072C>A (p.Arg358=) | |
| 19 | g.40397178_40397179delinsGA | CA2335962031 | PRX | c.1173_1174delinsTC (p.Leu391=) c.756_757delinsTC (p.Leu252=) c.1458_1459delinsTC (p.Leu486=) c.1048_1049delinsTC c.1034_1035delinsTC c.1135_1136delinsTC c.1060_1061delinsTC c.*1378_*1379delinsTC (n.*1378_*1379delinsTC) c.1071_1072delinsTC (p.Leu357=) | |
| 19 | g.40397179A>C | CA507679997 | PRX | c.1173T>G (p.Leu391=) c.756T>G (p.Leu252=) c.1458T>G (p.Leu486=) c.1048T>G c.1034T>G c.1135T>G c.1060T>G c.*1378T>G (n.*1378T>G) c.1071T>G (p.Leu357=) | |
| 19 | g.40397179A>G | CA507679998 | PRX | c.1173T>C (p.Leu391=) c.756T>C (p.Leu252=) c.1458T>C (p.Leu486=) c.1048T>C c.1034T>C c.1135T>C c.1060T>C c.*1378T>C (n.*1378T>C) c.1071T>C (p.Leu357=) | |
| 19 | g.40397179A>T | CA507679999 | PRX | c.1173T>A (p.Leu391=) c.756T>A (p.Leu252=) c.1458T>A (p.Leu486=) c.1048T>A c.1034T>A c.1135T>A c.1060T>A c.*1378T>A (n.*1378T>A) c.1071T>A (p.Leu357=) | |
| 19 | g.40397180del | CA9444310 | PRX | c.1173del (p.Arg392GlufsTer20) c.756del (p.Arg253GlufsTer20) c.1458del (p.Arg487GlufsTer20) c.1048del c.1034del c.1135del c.1060del c.*1378del (n.*1378del) c.1071del (p.Arg358GlufsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40397180A>C | CA405898932 | PRX | c.1172T>G (p.Leu391Arg) c.755T>G (p.Leu252Arg) c.1457T>G (p.Leu486Arg) c.1047T>G c.1033T>G c.1134T>G c.1059T>G c.*1377T>G (n.*1377T>G) c.1070T>G (p.Leu357Arg) | |
| 19 | g.40397180A>G | CA405898933 | PRX | c.1172T>C (p.Leu391Pro) c.755T>C (p.Leu252Pro) c.1457T>C (p.Leu486Pro) c.1047T>C c.1033T>C c.1134T>C c.1059T>C c.*1377T>C (n.*1377T>C) c.1070T>C (p.Leu357Pro) | |
| 19 | g.40397180A>T | CA405898934 | PRX | c.1172T>A (p.Leu391His) c.755T>A (p.Leu252His) c.1457T>A (p.Leu486His) c.1047T>A c.1033T>A c.1134T>A c.1059T>A c.*1377T>A (n.*1377T>A) c.1070T>A (p.Leu357His) | |
| 19 | g.40397181del | CA2499225489 | PRX | c.1171del (p.Leu391PhefsTer21) c.754del (p.Leu252PhefsTer21) c.1456del (p.Leu486PhefsTer21) c.1046del c.1032del c.1133del c.1058del c.*1376del (n.*1376del) c.1069del (p.Leu357PhefsTer21) | ClinVar dbSNP |
| 19 | g.40397181G>A | CA9444312 | PRX | c.1171C>T (p.Leu391Phe) c.754C>T (p.Leu252Phe) c.1456C>T (p.Leu486Phe) c.1046C>T c.1032C>T c.1133C>T c.1058C>T c.*1376C>T (n.*1376C>T) c.1069C>T (p.Leu357Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40397181G>C | CA405898936 | PRX | c.1171C>G (p.Leu391Val) c.754C>G (p.Leu252Val) c.1456C>G (p.Leu486Val) c.1046C>G c.1032C>G c.1133C>G c.1058C>G c.*1376C>G (n.*1376C>G) c.1069C>G (p.Leu357Val) | |
| 19 | g.40397181G= | CA2335962033 | PRX | c.1171C= (p.Leu391=) c.754C= (p.Leu252=) c.1456C= (p.Leu486=) c.1046C= c.1032C= c.1133C= c.1058C= c.*1376C= (n.*1376C=) c.1069C= (p.Leu357=) | |
| 19 | g.40397181G>T | CA405898935 | PRX | c.1171C>A (p.Leu391Ile) c.754C>A (p.Leu252Ile) c.1456C>A (p.Leu486Ile) c.1046C>A c.1032C>A c.1133C>A c.1058C>A c.*1376C>A (n.*1376C>A) c.1069C>A (p.Leu357Ile) | |
| 19 | g.40397182T>A | CA405898937 | PRX | c.1170A>T (p.Arg390Ser) c.753A>T (p.Arg251Ser) c.1455A>T (p.Arg485Ser) c.1045A>T c.1031A>T c.1132A>T c.1057A>T c.*1375A>T (n.*1375A>T) c.1068A>T (p.Arg356Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40397182T>C | CA507680000 | PRX | c.1170A>G (p.Arg390=) c.753A>G (p.Arg251=) c.1455A>G (p.Arg485=) c.1045A>G c.1031A>G c.1132A>G c.1057A>G c.*1375A>G (n.*1375A>G) c.1068A>G (p.Arg356=) | |
| 19 | g.40397182T>G | CA405898938 | PRX | c.1170A>C (p.Arg390Ser) c.753A>C (p.Arg251Ser) c.1455A>C (p.Arg485Ser) c.1045A>C c.1031A>C c.1132A>C c.1057A>C c.*1375A>C (n.*1375A>C) c.1068A>C (p.Arg356Ser) | |
| 19 | g.40397182T= | CA2335962034 | PRX | c.1170A= (p.Arg390=) c.753A= (p.Arg251=) c.1455A= (p.Arg485=) c.1045A= c.1031A= c.1132A= c.1057A= c.*1375A= (n.*1375A=) c.1068A= (p.Arg356=) | |
| 19 | g.40397183C>A | CA405898939 | PRX | c.1169G>T (p.Arg390Ile) c.752G>T (p.Arg251Ile) c.1454G>T (p.Arg485Ile) c.1044G>T c.1030G>T c.1131G>T c.1056G>T c.*1374G>T (n.*1374G>T) c.1067G>T (p.Arg356Ile) | |
| 19 | g.40397183C= | CA2335962035 | PRX | c.1169G= (p.Arg390=) c.752G= (p.Arg251=) c.1454G= (p.Arg485=) c.1044G= c.1030G= c.1131G= c.1056G= c.*1374G= (n.*1374G=) c.1067G= (p.Arg356=) | |
| 19 | g.40397183C>G | CA405898940 | PRX | c.1169G>C (p.Arg390Thr) c.752G>C (p.Arg251Thr) c.1454G>C (p.Arg485Thr) c.1044G>C c.1030G>C c.1131G>C c.1056G>C c.*1374G>C (n.*1374G>C) c.1067G>C (p.Arg356Thr) | dbSNP |
| 19 | g.40397183C>T | CA405898941 | PRX | c.1169G>A (p.Arg390Lys) c.752G>A (p.Arg251Lys) c.1454G>A (p.Arg485Lys) c.1044G>A c.1030G>A c.1131G>A c.1056G>A c.*1374G>A (n.*1374G>A) c.1067G>A (p.Arg356Lys) | ClinVar dbSNP |
| 19 | g.40397184del | CA2740096915 | PRX | c.1168del (p.Arg390AspfsTer22) c.751del (p.Arg251AspfsTer22) c.1453del (p.Arg485AspfsTer22) c.1043del c.1029del c.1130del c.1055del c.*1373del (n.*1373del) c.1066del (p.Arg356AspfsTer22) | ClinVar |
| 19 | g.40397184T>A | CA405898942 | PRX | c.1168A>T (p.Arg390Ter) c.751A>T (p.Arg251Ter) c.1453A>T (p.Arg485Ter) c.1043A>T c.1029A>T c.1130A>T c.1055A>T c.*1373A>T (n.*1373A>T) c.1066A>T (p.Arg356Ter) | |
| 19 | g.40397184T>C | CA405898943 | PRX | c.1168A>G (p.Arg390Gly) c.751A>G (p.Arg251Gly) c.1453A>G (p.Arg485Gly) c.1043A>G c.1029A>G c.1130A>G c.1055A>G c.*1373A>G (n.*1373A>G) c.1066A>G (p.Arg356Gly) | |
| 19 | g.40397184T>G | CA507680003 | PRX | c.1168A>C (p.Arg390=) c.751A>C (p.Arg251=) c.1453A>C (p.Arg485=) c.1043A>C c.1029A>C c.1130A>C c.1055A>C c.*1373A>C (n.*1373A>C) c.1066A>C (p.Arg356=) | |
| 19 | g.40397185G>A | CA507680005 | PRX | c.1167C>T (p.Pro389=) c.750C>T (p.Pro250=) c.1452C>T (p.Pro484=) c.1042C>T c.1028C>T c.1129C>T c.1054C>T c.*1372C>T (n.*1372C>T) c.1065C>T (p.Pro355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40397185G>C | CA507680006 | PRX | c.1167C>G (p.Pro389=) c.750C>G (p.Pro250=) c.1452C>G (p.Pro484=) c.1042C>G c.1028C>G c.1129C>G c.1054C>G c.*1372C>G (n.*1372C>G) c.1065C>G (p.Pro355=) | |
| 19 | g.40397185G= | CA2335962036 | PRX | c.1167C= (p.Pro389=) c.750C= (p.Pro250=) c.1452C= (p.Pro484=) c.1042C= c.1028C= c.1129C= c.1054C= c.*1372C= (n.*1372C=) c.1065C= (p.Pro355=) | |
| 19 | g.40397185G>T | CA507680004 | PRX | c.1167C>A (p.Pro389=) c.750C>A (p.Pro250=) c.1452C>A (p.Pro484=) c.1042C>A c.1028C>A c.1129C>A c.1054C>A c.*1372C>A (n.*1372C>A) c.1065C>A (p.Pro355=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40397186G>A | CA9444313 | PRX | c.1166C>T (p.Pro389Leu) c.749C>T (p.Pro250Leu) c.1451C>T (p.Pro484Leu) c.1041C>T c.1027C>T c.1128C>T c.1053C>T c.*1371C>T (n.*1371C>T) c.1064C>T (p.Pro355Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40397186G>C | CA308421072 | PRX | c.1166C>G (p.Pro389Arg) c.749C>G (p.Pro250Arg) c.1451C>G (p.Pro484Arg) c.1041C>G c.1027C>G c.1128C>G c.1053C>G c.*1371C>G (n.*1371C>G) c.1064C>G (p.Pro355Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40397186G= | CA2335962037 | PRX | c.1166C= (p.Pro389=) c.749C= (p.Pro250=) c.1451C= (p.Pro484=) c.1041C= c.1027C= c.1128C= c.1053C= c.*1371C= (n.*1371C=) c.1064C= (p.Pro355=) | |
| 19 | g.40397186G>T | CA405898944 | PRX | c.1166C>A (p.Pro389His) c.749C>A (p.Pro250His) c.1451C>A (p.Pro484His) c.1041C>A c.1027C>A c.1128C>A c.1053C>A c.*1371C>A (n.*1371C>A) c.1064C>A (p.Pro355His) | |
| 19 | g.40397187G>A | CA405898945 | PRX | c.1165C>T (p.Pro389Ser) c.748C>T (p.Pro250Ser) c.1450C>T (p.Pro484Ser) c.1040C>T c.1026C>T c.1127C>T c.1052C>T c.*1370C>T (n.*1370C>T) c.1063C>T (p.Pro355Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40397187G>C | CA405898946 | PRX | c.1165C>G (p.Pro389Ala) c.748C>G (p.Pro250Ala) c.1450C>G (p.Pro484Ala) c.1040C>G c.1026C>G c.1127C>G c.1052C>G c.*1370C>G (n.*1370C>G) c.1063C>G (p.Pro355Ala) | |
| 19 | g.40397187G= | CA2335962038 | PRX | c.1165C= (p.Pro389=) c.748C= (p.Pro250=) c.1450C= (p.Pro484=) c.1040C= c.1026C= c.1127C= c.1052C= c.*1370C= (n.*1370C=) c.1063C= (p.Pro355=) | |
| 19 | g.40397187G>T | CA405898947 | PRX | c.1165C>A (p.Pro389Thr) c.748C>A (p.Pro250Thr) c.1450C>A (p.Pro484Thr) c.1040C>A c.1026C>A c.1127C>A c.1052C>A c.*1370C>A (n.*1370C>A) c.1063C>A (p.Pro355Thr) | |
| 19 | g.40397188A>C | CA507680007 | PRX | c.1164T>G (p.Gly388=) c.747T>G (p.Gly249=) c.1449T>G (p.Gly483=) c.1039T>G c.1025T>G c.1126T>G c.1051T>G c.*1369T>G (n.*1369T>G) c.1062T>G (p.Gly354=) | |
| 19 | g.40397188A>G | CA507680008 | PRX | c.1164T>C (p.Gly388=) c.747T>C (p.Gly249=) c.1449T>C (p.Gly483=) c.1039T>C c.1025T>C c.1126T>C c.1051T>C c.*1369T>C (n.*1369T>C) c.1062T>C (p.Gly354=) | |
| 19 | g.40397188A>T | CA507680009 | PRX | c.1164T>A (p.Gly388=) c.747T>A (p.Gly249=) c.1449T>A (p.Gly483=) c.1039T>A c.1025T>A c.1126T>A c.1051T>A c.*1369T>A (n.*1369T>A) c.1062T>A (p.Gly354=) | |
| 19 | g.40397189C>A | CA405898950 | PRX | c.1163G>T (p.Gly388Val) c.746G>T (p.Gly249Val) c.1448G>T (p.Gly483Val) c.1038G>T c.1024G>T c.1125G>T c.1050G>T c.*1368G>T (n.*1368G>T) c.1061G>T (p.Gly354Val) | ClinVar gnomAD v4 |
| 19 | g.40397189C= | CA2335962039 | PRX | c.1163G= (p.Gly388=) c.746G= (p.Gly249=) c.1448G= (p.Gly483=) c.1038G= c.1024G= c.1125G= c.1050G= c.*1368G= (n.*1368G=) c.1061G= (p.Gly354=) | |
| 19 | g.40397189C>G | CA405898948 | PRX | c.1163G>C (p.Gly388Ala) c.746G>C (p.Gly249Ala) c.1448G>C (p.Gly483Ala) c.1038G>C c.1024G>C c.1125G>C c.1050G>C c.*1368G>C (n.*1368G>C) c.1061G>C (p.Gly354Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40397189C>T | CA405898949 | PRX | c.1163G>A (p.Gly388Asp) c.746G>A (p.Gly249Asp) c.1448G>A (p.Gly483Asp) c.1038G>A c.1024G>A c.1125G>A c.1050G>A c.*1368G>A (n.*1368G>A) c.1061G>A (p.Gly354Asp) | |
| 19 | g.40397190C>A | CA308421077 | PRX | c.1162G>T (p.Gly388Cys) c.745G>T (p.Gly249Cys) c.1447G>T (p.Gly483Cys) c.1037G>T c.1023G>T c.1124G>T c.1049G>T c.*1367G>T (n.*1367G>T) c.1060G>T (p.Gly354Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40397190C= | CA2335962040 | PRX | c.1162G= (p.Gly388=) c.745G= (p.Gly249=) c.1447G= (p.Gly483=) c.1037G= c.1023G= c.1124G= c.1049G= c.*1367G= (n.*1367G=) c.1060G= (p.Gly354=) |