Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428603_127428616dup | CA2660997781 | PROC | c.1043_1056dup (p.Lys353GlufsTer30) c.367_380dup c.1145_1158dup (p.Lys387GlufsTer30) c.1226_1239dup (p.Lys414GlufsTer30) c.1208_1221dup (p.Lys408GlufsTer30) c.1106_1119dup (p.Lys374GlufsTer30) n.1332-349_1332-336dup c.1286_1299dup (p.Lys434GlufsTer30) c.1388_1401dup (p.Lys468GlufsTer30) c.1328_1341dup (p.Lys448GlufsTer30) n.3607-349_3607-336dup n.4043-349_4043-336dup c.1211_1224dup (p.Lys409GlufsTer30) c.1229_1242dup (p.Lys415GlufsTer30) c.986_999dup (p.Lys334GlufsTer30) c.1019_1032dup (p.Lys345GlufsTer30) c.1037_1050dup (p.Lys351GlufsTer30) | gnomAD v4 |
2 | g.127428614G>A | CA348405664 | PROC | c.1054G>A (p.Ala352Thr) c.378G>A c.1156G>A (p.Ala386Thr) c.1237G>A (p.Ala413Thr) c.1219G>A (p.Ala407Thr) c.1117G>A (p.Ala373Thr) n.1332-350C>T c.1297G>A (p.Ala433Thr) c.1399G>A (p.Ala467Thr) c.1339G>A (p.Ala447Thr) n.3607-350C>T n.4043-350C>T c.1222G>A (p.Ala408Thr) c.1240G>A (p.Ala414Thr) c.997G>A (p.Ala333Thr) c.1030G>A (p.Ala344Thr) c.1048G>A (p.Ala350Thr) | |
2 | g.127428614G>C | CA55351014 | PROC | c.1054G>C (p.Ala352Pro) c.378G>C c.1156G>C (p.Ala386Pro) c.1237G>C (p.Ala413Pro) c.1219G>C (p.Ala407Pro) c.1117G>C (p.Ala373Pro) n.1332-350C>G c.1297G>C (p.Ala433Pro) c.1399G>C (p.Ala467Pro) c.1339G>C (p.Ala447Pro) n.3607-350C>G n.4043-350C>G c.1222G>C (p.Ala408Pro) c.1240G>C (p.Ala414Pro) c.997G>C (p.Ala333Pro) c.1030G>C (p.Ala344Pro) c.1048G>C (p.Ala350Pro) | dbSNP |
2 | g.127428614G= | CA1286884553 | PROC | c.1054G= (p.Ala352=) c.378G= c.1156G= (p.Ala386=) c.1237G= (p.Ala413=) c.1219G= (p.Ala407=) c.1117G= (p.Ala373=) n.1332-350C= c.1297G= (p.Ala433=) c.1399G= (p.Ala467=) c.1339G= (p.Ala447=) n.3607-350C= n.4043-350C= c.1222G= (p.Ala408=) c.1240G= (p.Ala414=) c.997G= (p.Ala333=) c.1030G= (p.Ala344=) c.1048G= (p.Ala350=) | |
2 | g.127428614G>T | CA348405663 | PROC | c.1054G>T (p.Ala352Ser) c.378G>T c.1156G>T (p.Ala386Ser) c.1237G>T (p.Ala413Ser) c.1219G>T (p.Ala407Ser) c.1117G>T (p.Ala373Ser) n.1332-350C>A c.1297G>T (p.Ala433Ser) c.1399G>T (p.Ala467Ser) c.1339G>T (p.Ala447Ser) n.3607-350C>A n.4043-350C>A c.1222G>T (p.Ala408Ser) c.1240G>T (p.Ala414Ser) c.997G>T (p.Ala333Ser) c.1030G>T (p.Ala344Ser) c.1048G>T (p.Ala350Ser) | |
2 | g.127428615C>A | CA348405665 | PROC | c.1055C>A (p.Ala352Asp) c.379C>A c.1157C>A (p.Ala386Asp) c.1238C>A (p.Ala413Asp) c.1220C>A (p.Ala407Asp) c.1118C>A (p.Ala373Asp) n.1332-351G>T c.1298C>A (p.Ala433Asp) c.1400C>A (p.Ala467Asp) c.1340C>A (p.Ala447Asp) n.3607-351G>T n.4043-351G>T c.1223C>A (p.Ala408Asp) c.1241C>A (p.Ala414Asp) c.998C>A (p.Ala333Asp) c.1031C>A (p.Ala344Asp) c.1049C>A (p.Ala350Asp) | |
2 | g.127428615C>G | CA348405666 | PROC | c.1055C>G (p.Ala352Gly) c.379C>G c.1157C>G (p.Ala386Gly) c.1238C>G (p.Ala413Gly) c.1220C>G (p.Ala407Gly) c.1118C>G (p.Ala373Gly) n.1332-351G>C c.1298C>G (p.Ala433Gly) c.1400C>G (p.Ala467Gly) c.1340C>G (p.Ala447Gly) n.3607-351G>C n.4043-351G>C c.1223C>G (p.Ala408Gly) c.1241C>G (p.Ala414Gly) c.998C>G (p.Ala333Gly) c.1031C>G (p.Ala344Gly) c.1049C>G (p.Ala350Gly) | |
2 | g.127428615C>T | CA348405667 | PROC | c.1055C>T (p.Ala352Val) c.379C>T c.1157C>T (p.Ala386Val) c.1238C>T (p.Ala413Val) c.1220C>T (p.Ala407Val) c.1118C>T (p.Ala373Val) n.1332-351G>A c.1298C>T (p.Ala433Val) c.1400C>T (p.Ala467Val) c.1340C>T (p.Ala447Val) n.3607-351G>A n.4043-351G>A c.1223C>T (p.Ala408Val) c.1241C>T (p.Ala414Val) c.998C>T (p.Ala333Val) c.1031C>T (p.Ala344Val) c.1049C>T (p.Ala350Val) | |
2 | g.127428616C>A | CA428872925 | PROC | c.1056C>A (p.Ala352=) c.380C>A c.1158C>A (p.Ala386=) c.1239C>A (p.Ala413=) c.1221C>A (p.Ala407=) c.1119C>A (p.Ala373=) n.1332-352G>T c.1299C>A (p.Ala433=) c.1401C>A (p.Ala467=) c.1341C>A (p.Ala447=) n.3607-352G>T n.4043-352G>T c.1224C>A (p.Ala408=) c.1242C>A (p.Ala414=) c.999C>A (p.Ala333=) c.1032C>A (p.Ala344=) c.1050C>A (p.Ala350=) | |
2 | g.127428616C>G | CA428872929 | PROC | c.1056C>G (p.Ala352=) c.380C>G c.1158C>G (p.Ala386=) c.1239C>G (p.Ala413=) c.1221C>G (p.Ala407=) c.1119C>G (p.Ala373=) n.1332-352G>C c.1299C>G (p.Ala433=) c.1401C>G (p.Ala467=) c.1341C>G (p.Ala447=) n.3607-352G>C n.4043-352G>C c.1224C>G (p.Ala408=) c.1242C>G (p.Ala414=) c.999C>G (p.Ala333=) c.1032C>G (p.Ala344=) c.1050C>G (p.Ala350=) | |
2 | g.127428616C>T | CA428872927 | PROC | c.1056C>T (p.Ala352=) c.380C>T c.1158C>T (p.Ala386=) c.1239C>T (p.Ala413=) c.1221C>T (p.Ala407=) c.1119C>T (p.Ala373=) n.1332-352G>A c.1299C>T (p.Ala433=) c.1401C>T (p.Ala467=) c.1341C>T (p.Ala447=) n.3607-352G>A n.4043-352G>A c.1224C>T (p.Ala408=) c.1242C>T (p.Ala414=) c.999C>T (p.Ala333=) c.1032C>T (p.Ala344=) c.1050C>T (p.Ala350=) | |
2 | g.127428617A>C | CA348405668 | PROC | c.1057A>C (p.Lys353Gln) c.381A>C c.1159A>C (p.Lys387Gln) c.1240A>C (p.Lys414Gln) c.1222A>C (p.Lys408Gln) c.1120A>C (p.Lys374Gln) n.1332-353T>G c.1300A>C (p.Lys434Gln) c.1402A>C (p.Lys468Gln) c.1342A>C (p.Lys448Gln) n.3607-353T>G n.4043-353T>G c.1225A>C (p.Lys409Gln) c.1243A>C (p.Lys415Gln) c.1000A>C (p.Lys334Gln) c.1033A>C (p.Lys345Gln) c.1051A>C (p.Lys351Gln) | |
2 | g.127428617A>G | CA348405669 | PROC | c.1057A>G (p.Lys353Glu) c.381A>G c.1159A>G (p.Lys387Glu) c.1240A>G (p.Lys414Glu) c.1222A>G (p.Lys408Glu) c.1120A>G (p.Lys374Glu) n.1332-353T>C c.1300A>G (p.Lys434Glu) c.1402A>G (p.Lys468Glu) c.1342A>G (p.Lys448Glu) n.3607-353T>C n.4043-353T>C c.1225A>G (p.Lys409Glu) c.1243A>G (p.Lys415Glu) c.1000A>G (p.Lys334Glu) c.1033A>G (p.Lys345Glu) c.1051A>G (p.Lys351Glu) | |
2 | g.127428617A>T | CA348405670 | PROC | c.1057A>T (p.Lys353Ter) c.381A>T c.1159A>T (p.Lys387Ter) c.1240A>T (p.Lys414Ter) c.1222A>T (p.Lys408Ter) c.1120A>T (p.Lys374Ter) n.1332-353T>A c.1300A>T (p.Lys434Ter) c.1402A>T (p.Lys468Ter) c.1342A>T (p.Lys448Ter) n.3607-353T>A n.4043-353T>A c.1225A>T (p.Lys409Ter) c.1243A>T (p.Lys415Ter) c.1000A>T (p.Lys334Ter) c.1033A>T (p.Lys345Ter) c.1051A>T (p.Lys351Ter) | |
2 | g.127428618A= | CA1286884554 | PROC | c.1058A= (p.Lys353=) c.382A= c.1160A= (p.Lys387=) c.1241A= (p.Lys414=) c.1223A= (p.Lys408=) c.1121A= (p.Lys374=) n.1332-354T= c.1301A= (p.Lys434=) c.1403A= (p.Lys468=) c.1343A= (p.Lys448=) n.3607-354T= n.4043-354T= c.1226A= (p.Lys409=) c.1244A= (p.Lys415=) c.1001A= (p.Lys334=) c.1034A= (p.Lys345=) c.1052A= (p.Lys351=) | |
2 | g.127428618A>C | CA348405671 | PROC | c.1058A>C (p.Lys353Thr) c.382A>C c.1160A>C (p.Lys387Thr) c.1241A>C (p.Lys414Thr) c.1223A>C (p.Lys408Thr) c.1121A>C (p.Lys374Thr) n.1332-354T>G c.1301A>C (p.Lys434Thr) c.1403A>C (p.Lys468Thr) c.1343A>C (p.Lys448Thr) n.3607-354T>G n.4043-354T>G c.1226A>C (p.Lys409Thr) c.1244A>C (p.Lys415Thr) c.1001A>C (p.Lys334Thr) c.1034A>C (p.Lys345Thr) c.1052A>C (p.Lys351Thr) | |
2 | g.127428618A>G | CA1859512 | PROC | c.1058A>G (p.Lys353Arg) c.382A>G c.1160A>G (p.Lys387Arg) c.1241A>G (p.Lys414Arg) c.1223A>G (p.Lys408Arg) c.1121A>G (p.Lys374Arg) n.1332-354T>C c.1301A>G (p.Lys434Arg) c.1403A>G (p.Lys468Arg) c.1343A>G (p.Lys448Arg) n.3607-354T>C n.4043-354T>C c.1226A>G (p.Lys409Arg) c.1244A>G (p.Lys415Arg) c.1001A>G (p.Lys334Arg) c.1034A>G (p.Lys345Arg) c.1052A>G (p.Lys351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428618A>T | CA348405672 | PROC | c.1058A>T (p.Lys353Met) c.382A>T c.1160A>T (p.Lys387Met) c.1241A>T (p.Lys414Met) c.1223A>T (p.Lys408Met) c.1121A>T (p.Lys374Met) n.1332-354T>A c.1301A>T (p.Lys434Met) c.1403A>T (p.Lys468Met) c.1343A>T (p.Lys448Met) n.3607-354T>A n.4043-354T>A c.1226A>T (p.Lys409Met) c.1244A>T (p.Lys415Met) c.1001A>T (p.Lys334Met) c.1034A>T (p.Lys345Met) c.1052A>T (p.Lys351Met) | |
2 | g.127428619G>A | CA428872940 | PROC | c.1059G>A (p.Lys353=) c.383G>A c.1161G>A (p.Lys387=) c.1242G>A (p.Lys414=) c.1224G>A (p.Lys408=) c.1122G>A (p.Lys374=) n.1332-355C>T c.1302G>A (p.Lys434=) c.1404G>A (p.Lys468=) c.1344G>A (p.Lys448=) n.3607-355C>T n.4043-355C>T c.1227G>A (p.Lys409=) c.1245G>A (p.Lys415=) c.1002G>A (p.Lys334=) c.1035G>A (p.Lys345=) c.1053G>A (p.Lys351=) | gnomAD v4 |
2 | g.127428619G>C | CA348405674 | PROC | c.1059G>C (p.Lys353Asn) c.383G>C c.1161G>C (p.Lys387Asn) c.1242G>C (p.Lys414Asn) c.1224G>C (p.Lys408Asn) c.1122G>C (p.Lys374Asn) n.1332-355C>G c.1302G>C (p.Lys434Asn) c.1404G>C (p.Lys468Asn) c.1344G>C (p.Lys448Asn) n.3607-355C>G n.4043-355C>G c.1227G>C (p.Lys409Asn) c.1245G>C (p.Lys415Asn) c.1002G>C (p.Lys334Asn) c.1035G>C (p.Lys345Asn) c.1053G>C (p.Lys351Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428619G= | CA1286884555 | PROC | c.1059G= (p.Lys353=) c.383G= c.1161G= (p.Lys387=) c.1242G= (p.Lys414=) c.1224G= (p.Lys408=) c.1122G= (p.Lys374=) n.1332-355C= c.1302G= (p.Lys434=) c.1404G= (p.Lys468=) c.1344G= (p.Lys448=) n.3607-355C= n.4043-355C= c.1227G= (p.Lys409=) c.1245G= (p.Lys415=) c.1002G= (p.Lys334=) c.1035G= (p.Lys345=) c.1053G= (p.Lys351=) | |
2 | g.127428619G>T | CA348405675 | PROC | c.1059G>T (p.Lys353Asn) c.383G>T c.1161G>T (p.Lys387Asn) c.1242G>T (p.Lys414Asn) c.1224G>T (p.Lys408Asn) c.1122G>T (p.Lys374Asn) n.1332-355C>A c.1302G>T (p.Lys434Asn) c.1404G>T (p.Lys468Asn) c.1344G>T (p.Lys448Asn) n.3607-355C>A n.4043-355C>A c.1227G>T (p.Lys409Asn) c.1245G>T (p.Lys415Asn) c.1002G>T (p.Lys334Asn) c.1035G>T (p.Lys345Asn) c.1053G>T (p.Lys351Asn) | gnomAD v4 |
2 | g.127428620A>C | CA428872942 | PROC | c.1060A>C (p.Arg354=) c.384A>C c.1162A>C (p.Arg388=) c.1243A>C (p.Arg415=) c.1225A>C (p.Arg409=) c.1123A>C (p.Arg375=) n.1332-356T>G c.1303A>C (p.Arg435=) c.1405A>C (p.Arg469=) c.1345A>C (p.Arg449=) n.3607-356T>G n.4043-356T>G c.1228A>C (p.Arg410=) c.1246A>C (p.Arg416=) c.1003A>C (p.Arg335=) c.1036A>C (p.Arg346=) c.1054A>C (p.Arg352=) | |
2 | g.127428620A>G | CA348405676 | PROC | c.1060A>G (p.Arg354Gly) c.384A>G c.1162A>G (p.Arg388Gly) c.1243A>G (p.Arg415Gly) c.1225A>G (p.Arg409Gly) c.1123A>G (p.Arg375Gly) n.1332-356T>C c.1303A>G (p.Arg435Gly) c.1405A>G (p.Arg469Gly) c.1345A>G (p.Arg449Gly) n.3607-356T>C n.4043-356T>C c.1228A>G (p.Arg410Gly) c.1246A>G (p.Arg416Gly) c.1003A>G (p.Arg335Gly) c.1036A>G (p.Arg346Gly) c.1054A>G (p.Arg352Gly) | |
2 | g.127428620A>T | CA348405677 | PROC | c.1060A>T (p.Arg354Ter) c.384A>T c.1162A>T (p.Arg388Ter) c.1243A>T (p.Arg415Ter) c.1225A>T (p.Arg409Ter) c.1123A>T (p.Arg375Ter) n.1332-356T>A c.1303A>T (p.Arg435Ter) c.1405A>T (p.Arg469Ter) c.1345A>T (p.Arg449Ter) n.3607-356T>A n.4043-356T>A c.1228A>T (p.Arg410Ter) c.1246A>T (p.Arg416Ter) c.1003A>T (p.Arg335Ter) c.1036A>T (p.Arg346Ter) c.1054A>T (p.Arg352Ter) | |
2 | g.127428621G>A | CA1859513 | PROC | c.1061G>A (p.Arg354Lys) c.385G>A c.1163G>A (p.Arg388Lys) c.1244G>A (p.Arg415Lys) c.1226G>A (p.Arg409Lys) c.1124G>A (p.Arg375Lys) n.1332-357C>T c.1304G>A (p.Arg435Lys) c.1406G>A (p.Arg469Lys) c.1346G>A (p.Arg449Lys) n.3607-357C>T n.4043-357C>T c.1229G>A (p.Arg410Lys) c.1247G>A (p.Arg416Lys) c.1004G>A (p.Arg335Lys) c.1037G>A (p.Arg346Lys) c.1055G>A (p.Arg352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.127428621G>C | CA348405679 | PROC | c.1061G>C (p.Arg354Thr) c.385G>C c.1163G>C (p.Arg388Thr) c.1244G>C (p.Arg415Thr) c.1226G>C (p.Arg409Thr) c.1124G>C (p.Arg375Thr) n.1332-357C>G c.1304G>C (p.Arg435Thr) c.1406G>C (p.Arg469Thr) c.1346G>C (p.Arg449Thr) n.3607-357C>G n.4043-357C>G c.1229G>C (p.Arg410Thr) c.1247G>C (p.Arg416Thr) c.1004G>C (p.Arg335Thr) c.1037G>C (p.Arg346Thr) c.1055G>C (p.Arg352Thr) | |
2 | g.127428621G= | CA1286884556 | PROC | c.1061G= (p.Arg354=) c.385G= c.1163G= (p.Arg388=) c.1244G= (p.Arg415=) c.1226G= (p.Arg409=) c.1124G= (p.Arg375=) n.1332-357C= c.1304G= (p.Arg435=) c.1406G= (p.Arg469=) c.1346G= (p.Arg449=) n.3607-357C= n.4043-357C= c.1229G= (p.Arg410=) c.1247G= (p.Arg416=) c.1004G= (p.Arg335=) c.1037G= (p.Arg346=) c.1055G= (p.Arg352=) | |
2 | g.127428621G>T | CA348405678 | PROC | c.1061G>T (p.Arg354Ile) c.385G>T c.1163G>T (p.Arg388Ile) c.1244G>T (p.Arg415Ile) c.1226G>T (p.Arg409Ile) c.1124G>T (p.Arg375Ile) n.1332-357C>A c.1304G>T (p.Arg435Ile) c.1406G>T (p.Arg469Ile) c.1346G>T (p.Arg449Ile) n.3607-357C>A n.4043-357C>A c.1229G>T (p.Arg410Ile) c.1247G>T (p.Arg416Ile) c.1004G>T (p.Arg335Ile) c.1037G>T (p.Arg346Ile) c.1055G>T (p.Arg352Ile) | |
2 | g.127428622A>C | CA348405680 | PROC | c.1062A>C (p.Arg354Ser) c.386A>C c.1164A>C (p.Arg388Ser) c.1245A>C (p.Arg415Ser) c.1227A>C (p.Arg409Ser) c.1125A>C (p.Arg375Ser) n.1332-358T>G c.1305A>C (p.Arg435Ser) c.1407A>C (p.Arg469Ser) c.1347A>C (p.Arg449Ser) n.3607-358T>G n.4043-358T>G c.1230A>C (p.Arg410Ser) c.1248A>C (p.Arg416Ser) c.1005A>C (p.Arg335Ser) c.1038A>C (p.Arg346Ser) c.1056A>C (p.Arg352Ser) | |
2 | g.127428622A>G | CA428872953 | PROC | c.1062A>G (p.Arg354=) c.386A>G c.1164A>G (p.Arg388=) c.1245A>G (p.Arg415=) c.1227A>G (p.Arg409=) c.1125A>G (p.Arg375=) n.1332-358T>C c.1305A>G (p.Arg435=) c.1407A>G (p.Arg469=) c.1347A>G (p.Arg449=) n.3607-358T>C n.4043-358T>C c.1230A>G (p.Arg410=) c.1248A>G (p.Arg416=) c.1005A>G (p.Arg335=) c.1038A>G (p.Arg346=) c.1056A>G (p.Arg352=) | |
2 | g.127428622A>T | CA348405681 | PROC | c.1062A>T (p.Arg354Ser) c.386A>T c.1164A>T (p.Arg388Ser) c.1245A>T (p.Arg415Ser) c.1227A>T (p.Arg409Ser) c.1125A>T (p.Arg375Ser) n.1332-358T>A c.1305A>T (p.Arg435Ser) c.1407A>T (p.Arg469Ser) c.1347A>T (p.Arg449Ser) n.3607-358T>A n.4043-358T>A c.1230A>T (p.Arg410Ser) c.1248A>T (p.Arg416Ser) c.1005A>T (p.Arg335Ser) c.1038A>T (p.Arg346Ser) c.1056A>T (p.Arg352Ser) | |
2 | g.127428623A>C | CA348405682 | PROC | c.1063A>C (p.Asn355His) c.387A>C c.1165A>C (p.Asn389His) c.1246A>C (p.Asn416His) c.1228A>C (p.Asn410His) c.1126A>C (p.Asn376His) n.1332-359T>G c.1306A>C (p.Asn436His) c.1408A>C (p.Asn470His) c.1348A>C (p.Asn450His) n.3607-359T>G n.4043-359T>G c.1231A>C (p.Asn411His) c.1249A>C (p.Asn417His) c.1006A>C (p.Asn336His) c.1039A>C (p.Asn347His) c.1057A>C (p.Asn353His) | |
2 | g.127428623A>G | CA348405683 | PROC | c.1063A>G (p.Asn355Asp) c.387A>G c.1165A>G (p.Asn389Asp) c.1246A>G (p.Asn416Asp) c.1228A>G (p.Asn410Asp) c.1126A>G (p.Asn376Asp) n.1332-359T>C c.1306A>G (p.Asn436Asp) c.1408A>G (p.Asn470Asp) c.1348A>G (p.Asn450Asp) n.3607-359T>C n.4043-359T>C c.1231A>G (p.Asn411Asp) c.1249A>G (p.Asn417Asp) c.1006A>G (p.Asn336Asp) c.1039A>G (p.Asn347Asp) c.1057A>G (p.Asn353Asp) | |
2 | g.127428623A>T | CA348405684 | PROC | c.1063A>T (p.Asn355Tyr) c.387A>T c.1165A>T (p.Asn389Tyr) c.1246A>T (p.Asn416Tyr) c.1228A>T (p.Asn410Tyr) c.1126A>T (p.Asn376Tyr) n.1332-359T>A c.1306A>T (p.Asn436Tyr) c.1408A>T (p.Asn470Tyr) c.1348A>T (p.Asn450Tyr) n.3607-359T>A n.4043-359T>A c.1231A>T (p.Asn411Tyr) c.1249A>T (p.Asn417Tyr) c.1006A>T (p.Asn336Tyr) c.1039A>T (p.Asn347Tyr) c.1057A>T (p.Asn353Tyr) | |
2 | g.127428624A>C | CA348405686 | PROC | c.1064A>C (p.Asn355Thr) c.388A>C c.1166A>C (p.Asn389Thr) c.1247A>C (p.Asn416Thr) c.1229A>C (p.Asn410Thr) c.1127A>C (p.Asn376Thr) n.1332-360T>G c.1307A>C (p.Asn436Thr) c.1409A>C (p.Asn470Thr) c.1349A>C (p.Asn450Thr) n.3607-360T>G n.4043-360T>G c.1232A>C (p.Asn411Thr) c.1250A>C (p.Asn417Thr) c.1007A>C (p.Asn336Thr) c.1040A>C (p.Asn347Thr) c.1058A>C (p.Asn353Thr) | |
2 | g.127428624A>G | CA348405687 | PROC | c.1064A>G (p.Asn355Ser) c.388A>G c.1166A>G (p.Asn389Ser) c.1247A>G (p.Asn416Ser) c.1229A>G (p.Asn410Ser) c.1127A>G (p.Asn376Ser) n.1332-360T>C c.1307A>G (p.Asn436Ser) c.1409A>G (p.Asn470Ser) c.1349A>G (p.Asn450Ser) n.3607-360T>C n.4043-360T>C c.1232A>G (p.Asn411Ser) c.1250A>G (p.Asn417Ser) c.1007A>G (p.Asn336Ser) c.1040A>G (p.Asn347Ser) c.1058A>G (p.Asn353Ser) | |
2 | g.127428624A>T | CA348405688 | PROC | c.1064A>T (p.Asn355Ile) c.388A>T c.1166A>T (p.Asn389Ile) c.1247A>T (p.Asn416Ile) c.1229A>T (p.Asn410Ile) c.1127A>T (p.Asn376Ile) n.1332-360T>A c.1307A>T (p.Asn436Ile) c.1409A>T (p.Asn470Ile) c.1349A>T (p.Asn450Ile) n.3607-360T>A n.4043-360T>A c.1232A>T (p.Asn411Ile) c.1250A>T (p.Asn417Ile) c.1007A>T (p.Asn336Ile) c.1040A>T (p.Asn347Ile) c.1058A>T (p.Asn353Ile) | |
2 | g.127428625C>A | CA348405689 | PROC | c.1065C>A (p.Asn355Lys) c.389C>A c.1167C>A (p.Asn389Lys) c.1248C>A (p.Asn416Lys) c.1230C>A (p.Asn410Lys) c.1128C>A (p.Asn376Lys) n.1332-361G>T c.1308C>A (p.Asn436Lys) c.1410C>A (p.Asn470Lys) c.1350C>A (p.Asn450Lys) n.3607-361G>T n.4043-361G>T c.1233C>A (p.Asn411Lys) c.1251C>A (p.Asn417Lys) c.1008C>A (p.Asn336Lys) c.1041C>A (p.Asn347Lys) c.1059C>A (p.Asn353Lys) | |
2 | g.127428625C= | CA1286884557 | PROC | c.1065C= (p.Asn355=) c.389C= c.1167C= (p.Asn389=) c.1248C= (p.Asn416=) c.1230C= (p.Asn410=) c.1128C= (p.Asn376=) n.1332-361G= c.1308C= (p.Asn436=) c.1410C= (p.Asn470=) c.1350C= (p.Asn450=) n.3607-361G= n.4043-361G= c.1233C= (p.Asn411=) c.1251C= (p.Asn417=) c.1008C= (p.Asn336=) c.1041C= (p.Asn347=) c.1059C= (p.Asn353=) | |
2 | g.127428625C>G | CA348405690 | PROC | c.1065C>G (p.Asn355Lys) c.389C>G c.1167C>G (p.Asn389Lys) c.1248C>G (p.Asn416Lys) c.1230C>G (p.Asn410Lys) c.1128C>G (p.Asn376Lys) n.1332-361G>C c.1308C>G (p.Asn436Lys) c.1410C>G (p.Asn470Lys) c.1350C>G (p.Asn450Lys) n.3607-361G>C n.4043-361G>C c.1233C>G (p.Asn411Lys) c.1251C>G (p.Asn417Lys) c.1008C>G (p.Asn336Lys) c.1041C>G (p.Asn347Lys) c.1059C>G (p.Asn353Lys) | |
2 | g.127428625C>T | CA1859514 | PROC | c.1065C>T (p.Asn355=) c.389C>T c.1167C>T (p.Asn389=) c.1248C>T (p.Asn416=) c.1230C>T (p.Asn410=) c.1128C>T (p.Asn376=) n.1332-361G>A c.1308C>T (p.Asn436=) c.1410C>T (p.Asn470=) c.1350C>T (p.Asn450=) n.3607-361G>A n.4043-361G>A c.1233C>T (p.Asn411=) c.1251C>T (p.Asn417=) c.1008C>T (p.Asn336=) c.1041C>T (p.Asn347=) c.1059C>T (p.Asn353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428626del | CA2586969915 | PROC | c.1066del (p.Arg356AlafsTer22) c.390del c.1168del (p.Arg390AlafsTer22) c.1249del (p.Arg417AlafsTer22) c.1231del (p.Arg411AlafsTer22) c.1129del (p.Arg377AlafsTer22) n.1332-361del c.1309del (p.Arg437AlafsTer22) c.1411del (p.Arg471AlafsTer22) c.1351del (p.Arg451AlafsTer22) n.3607-361del n.4043-361del c.1234del (p.Arg412AlafsTer22) c.1252del (p.Arg418AlafsTer22) c.1009del (p.Arg337AlafsTer22) c.1042del (p.Arg348AlafsTer22) c.1060del (p.Arg354AlafsTer22) | |
2 | g.127428626C>A | CA348405691 | PROC | c.1066C>A (p.Arg356Ser) c.390C>A c.1168C>A (p.Arg390Ser) c.1249C>A (p.Arg417Ser) c.1231C>A (p.Arg411Ser) c.1129C>A (p.Arg377Ser) n.1332-362G>T c.1309C>A (p.Arg437Ser) c.1411C>A (p.Arg471Ser) c.1351C>A (p.Arg451Ser) n.3607-362G>T n.4043-362G>T c.1234C>A (p.Arg412Ser) c.1252C>A (p.Arg418Ser) c.1009C>A (p.Arg337Ser) c.1042C>A (p.Arg348Ser) c.1060C>A (p.Arg354Ser) | |
2 | g.127428626C= | CA1286884558 | PROC | c.1066C= (p.Arg356=) c.390C= c.1168C= (p.Arg390=) c.1249C= (p.Arg417=) c.1231C= (p.Arg411=) c.1129C= (p.Arg377=) n.1332-362G= c.1309C= (p.Arg437=) c.1411C= (p.Arg471=) c.1351C= (p.Arg451=) n.3607-362G= n.4043-362G= c.1234C= (p.Arg412=) c.1252C= (p.Arg418=) c.1009C= (p.Arg337=) c.1042C= (p.Arg348=) c.1060C= (p.Arg354=) | |
2 | g.127428626C>G | CA348405692 | PROC | c.1066C>G (p.Arg356Gly) c.390C>G c.1168C>G (p.Arg390Gly) c.1249C>G (p.Arg417Gly) c.1231C>G (p.Arg411Gly) c.1129C>G (p.Arg377Gly) n.1332-362G>C c.1309C>G (p.Arg437Gly) c.1411C>G (p.Arg471Gly) c.1351C>G (p.Arg451Gly) n.3607-362G>C n.4043-362G>C c.1234C>G (p.Arg412Gly) c.1252C>G (p.Arg418Gly) c.1009C>G (p.Arg337Gly) c.1042C>G (p.Arg348Gly) c.1060C>G (p.Arg354Gly) | |
2 | g.127428626C>T | CA1859515 | PROC | c.1066C>T (p.Arg356Cys) c.390C>T c.1168C>T (p.Arg390Cys) c.1249C>T (p.Arg417Cys) c.1231C>T (p.Arg411Cys) c.1129C>T (p.Arg377Cys) n.1332-362G>A c.1309C>T (p.Arg437Cys) c.1411C>T (p.Arg471Cys) c.1351C>T (p.Arg451Cys) n.3607-362G>A n.4043-362G>A c.1234C>T (p.Arg412Cys) c.1252C>T (p.Arg418Cys) c.1009C>T (p.Arg337Cys) c.1042C>T (p.Arg348Cys) c.1060C>T (p.Arg354Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428627G>A | CA1859516 | PROC | c.1067G>A (p.Arg356His) c.391G>A c.1169G>A (p.Arg390His) c.1250G>A (p.Arg417His) c.1232G>A (p.Arg411His) c.1130G>A (p.Arg377His) n.1332-363C>T c.1310G>A (p.Arg437His) c.1412G>A (p.Arg471His) c.1352G>A (p.Arg451His) n.3607-363C>T n.4043-363C>T c.1235G>A (p.Arg412His) c.1253G>A (p.Arg418His) c.1010G>A (p.Arg337His) c.1043G>A (p.Arg348His) c.1061G>A (p.Arg354His) | dbSNP ExAC gnomAD v2 |
2 | g.127428627G>C | CA348405693 | PROC | c.1067G>C (p.Arg356Pro) c.391G>C c.1169G>C (p.Arg390Pro) c.1250G>C (p.Arg417Pro) c.1232G>C (p.Arg411Pro) c.1130G>C (p.Arg377Pro) n.1332-363C>G c.1310G>C (p.Arg437Pro) c.1412G>C (p.Arg471Pro) c.1352G>C (p.Arg451Pro) n.3607-363C>G n.4043-363C>G c.1235G>C (p.Arg412Pro) c.1253G>C (p.Arg418Pro) c.1010G>C (p.Arg337Pro) c.1043G>C (p.Arg348Pro) c.1061G>C (p.Arg354Pro) | |
2 | g.127428627G= | CA1286884559 | PROC | c.1067G= (p.Arg356=) c.391G= c.1169G= (p.Arg390=) c.1250G= (p.Arg417=) c.1232G= (p.Arg411=) c.1130G= (p.Arg377=) n.1332-363C= c.1310G= (p.Arg437=) c.1412G= (p.Arg471=) c.1352G= (p.Arg451=) n.3607-363C= n.4043-363C= c.1235G= (p.Arg412=) c.1253G= (p.Arg418=) c.1010G= (p.Arg337=) c.1043G= (p.Arg348=) c.1061G= (p.Arg354=) |