Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428603_127428616dupCA2660997781PROCc.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
2g.127428611G>ACA348405652PROCc.1051G>A (p.Glu351Lys)
c.375G>A
c.1153G>A (p.Glu385Lys)
c.1234G>A (p.Glu412Lys)
c.1216G>A (p.Glu406Lys)
c.1114G>A (p.Glu372Lys)
n.1332-347C>T
c.1294G>A (p.Glu432Lys)
c.1396G>A (p.Glu466Lys)
c.1336G>A (p.Glu446Lys)
n.3607-347C>T
n.4043-347C>T
c.1219G>A (p.Glu407Lys)
c.1237G>A (p.Glu413Lys)
c.994G>A (p.Glu332Lys)
c.1027G>A (p.Glu343Lys)
c.1045G>A (p.Glu349Lys)
2g.127428611G>CCA348405653PROCc.1051G>C (p.Glu351Gln)
c.375G>C
c.1153G>C (p.Glu385Gln)
c.1234G>C (p.Glu412Gln)
c.1216G>C (p.Glu406Gln)
c.1114G>C (p.Glu372Gln)
n.1332-347C>G
c.1294G>C (p.Glu432Gln)
c.1396G>C (p.Glu466Gln)
c.1336G>C (p.Glu446Gln)
n.3607-347C>G
n.4043-347C>G
c.1219G>C (p.Glu407Gln)
c.1237G>C (p.Glu413Gln)
c.994G>C (p.Glu332Gln)
c.1027G>C (p.Glu343Gln)
c.1045G>C (p.Glu349Gln)
2g.127428611G>TCA348405656PROCc.1051G>T (p.Glu351Ter)
c.375G>T
c.1153G>T (p.Glu385Ter)
c.1234G>T (p.Glu412Ter)
c.1216G>T (p.Glu406Ter)
c.1114G>T (p.Glu372Ter)
n.1332-347C>A
c.1294G>T (p.Glu432Ter)
c.1396G>T (p.Glu466Ter)
c.1336G>T (p.Glu446Ter)
n.3607-347C>A
n.4043-347C>A
c.1219G>T (p.Glu407Ter)
c.1237G>T (p.Glu413Ter)
c.994G>T (p.Glu332Ter)
c.1027G>T (p.Glu343Ter)
c.1045G>T (p.Glu349Ter)
2g.127428612A=CA1286884551PROCc.1052A= (p.Glu351=)
c.376A=
c.1154A= (p.Glu385=)
c.1235A= (p.Glu412=)
c.1217A= (p.Glu406=)
c.1115A= (p.Glu372=)
n.1332-348T=
c.1295A= (p.Glu432=)
c.1397A= (p.Glu466=)
c.1337A= (p.Glu446=)
n.3607-348T=
n.4043-348T=
c.1220A= (p.Glu407=)
c.1238A= (p.Glu413=)
c.995A= (p.Glu332=)
c.1028A= (p.Glu343=)
c.1046A= (p.Glu349=)
2g.127428612A>CCA348405658PROCc.1052A>C (p.Glu351Ala)
c.376A>C
c.1154A>C (p.Glu385Ala)
c.1235A>C (p.Glu412Ala)
c.1217A>C (p.Glu406Ala)
c.1115A>C (p.Glu372Ala)
n.1332-348T>G
c.1295A>C (p.Glu432Ala)
c.1397A>C (p.Glu466Ala)
c.1337A>C (p.Glu446Ala)
n.3607-348T>G
n.4043-348T>G
c.1220A>C (p.Glu407Ala)
c.1238A>C (p.Glu413Ala)
c.995A>C (p.Glu332Ala)
c.1028A>C (p.Glu343Ala)
c.1046A>C (p.Glu349Ala)
 dbSNP
2g.127428612A>GCA348405659PROCc.1052A>G (p.Glu351Gly)
c.376A>G
c.1154A>G (p.Glu385Gly)
c.1235A>G (p.Glu412Gly)
c.1217A>G (p.Glu406Gly)
c.1115A>G (p.Glu372Gly)
n.1332-348T>C
c.1295A>G (p.Glu432Gly)
c.1397A>G (p.Glu466Gly)
c.1337A>G (p.Glu446Gly)
n.3607-348T>C
n.4043-348T>C
c.1220A>G (p.Glu407Gly)
c.1238A>G (p.Glu413Gly)
c.995A>G (p.Glu332Gly)
c.1028A>G (p.Glu343Gly)
c.1046A>G (p.Glu349Gly)
2g.127428612A>TCA348405660PROCc.1052A>T (p.Glu351Val)
c.376A>T
c.1154A>T (p.Glu385Val)
c.1235A>T (p.Glu412Val)
c.1217A>T (p.Glu406Val)
c.1115A>T (p.Glu372Val)
n.1332-348T>A
c.1295A>T (p.Glu432Val)
c.1397A>T (p.Glu466Val)
c.1337A>T (p.Glu446Val)
n.3607-348T>A
n.4043-348T>A
c.1220A>T (p.Glu407Val)
c.1238A>T (p.Glu413Val)
c.995A>T (p.Glu332Val)
c.1028A>T (p.Glu343Val)
c.1046A>T (p.Glu349Val)
2g.127428613G>ACA428872906PROCc.1053G>A (p.Glu351=)
c.377G>A
c.1155G>A (p.Glu385=)
c.1236G>A (p.Glu412=)
c.1218G>A (p.Glu406=)
c.1116G>A (p.Glu372=)
n.1332-349C>T
c.1296G>A (p.Glu432=)
c.1398G>A (p.Glu466=)
c.1338G>A (p.Glu446=)
n.3607-349C>T
n.4043-349C>T
c.1221G>A (p.Glu407=)
c.1239G>A (p.Glu413=)
c.996G>A (p.Glu332=)
c.1029G>A (p.Glu343=)
c.1047G>A (p.Glu349=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428613G>CCA348405661PROCc.1053G>C (p.Glu351Asp)
c.377G>C
c.1155G>C (p.Glu385Asp)
c.1236G>C (p.Glu412Asp)
c.1218G>C (p.Glu406Asp)
c.1116G>C (p.Glu372Asp)
n.1332-349C>G
c.1296G>C (p.Glu432Asp)
c.1398G>C (p.Glu466Asp)
c.1338G>C (p.Glu446Asp)
n.3607-349C>G
n.4043-349C>G
c.1221G>C (p.Glu407Asp)
c.1239G>C (p.Glu413Asp)
c.996G>C (p.Glu332Asp)
c.1029G>C (p.Glu343Asp)
c.1047G>C (p.Glu349Asp)
2g.127428613G=CA1286884552PROCc.1053G= (p.Glu351=)
c.377G=
c.1155G= (p.Glu385=)
c.1236G= (p.Glu412=)
c.1218G= (p.Glu406=)
c.1116G= (p.Glu372=)
n.1332-349C=
c.1296G= (p.Glu432=)
c.1398G= (p.Glu466=)
c.1338G= (p.Glu446=)
n.3607-349C=
n.4043-349C=
c.1221G= (p.Glu407=)
c.1239G= (p.Glu413=)
c.996G= (p.Glu332=)
c.1029G= (p.Glu343=)
c.1047G= (p.Glu349=)
2g.127428613G>TCA348405662PROCc.1053G>T (p.Glu351Asp)
c.377G>T
c.1155G>T (p.Glu385Asp)
c.1236G>T (p.Glu412Asp)
c.1218G>T (p.Glu406Asp)
c.1116G>T (p.Glu372Asp)
n.1332-349C>A
c.1296G>T (p.Glu432Asp)
c.1398G>T (p.Glu466Asp)
c.1338G>T (p.Glu446Asp)
n.3607-349C>A
n.4043-349C>A
c.1221G>T (p.Glu407Asp)
c.1239G>T (p.Glu413Asp)
c.996G>T (p.Glu332Asp)
c.1029G>T (p.Glu343Asp)
c.1047G>T (p.Glu349Asp)
2g.127428614G>ACA348405664PROCc.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)
2g.127428614G>CCA55351014PROCc.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
2g.127428614G=CA1286884553PROCc.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=)
2g.127428614G>TCA348405663PROCc.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)
2g.127428615C>ACA348405665PROCc.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)
2g.127428615C>GCA348405666PROCc.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)
2g.127428615C>TCA348405667PROCc.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)
2g.127428616C>ACA428872925PROCc.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=)
2g.127428616C>GCA428872929PROCc.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=)
2g.127428616C>TCA428872927PROCc.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=)
2g.127428617A>CCA348405668PROCc.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)
2g.127428617A>GCA348405669PROCc.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)
2g.127428617A>TCA348405670PROCc.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)
2g.127428618A=CA1286884554PROCc.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=)
2g.127428618A>CCA348405671PROCc.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)
2g.127428618A>GCA1859512PROCc.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
2g.127428618A>TCA348405672PROCc.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)
2g.127428619G>ACA428872940PROCc.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
2g.127428619G>CCA348405674PROCc.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
2g.127428619G=CA1286884555PROCc.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=)
2g.127428619G>TCA348405675PROCc.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
2g.127428620A>CCA428872942PROCc.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=)
2g.127428620A>GCA348405676PROCc.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)
2g.127428620A>TCA348405677PROCc.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)
2g.127428621G>ACA1859513PROCc.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
2g.127428621G>CCA348405679PROCc.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)
2g.127428621G=CA1286884556PROCc.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=)
2g.127428621G>TCA348405678PROCc.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)
2g.127428622A>CCA348405680PROCc.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)
2g.127428622A>GCA428872953PROCc.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=)
2g.127428622A>TCA348405681PROCc.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)
2g.127428623A>CCA348405682PROCc.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)
2g.127428623A>GCA348405683PROCc.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)
2g.127428623A>TCA348405684PROCc.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)
2g.127428624A>CCA348405686PROCc.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)
2g.127428624A>GCA348405687PROCc.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)
2g.127428624A>TCA348405688PROCc.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)
2g.127428625C>ACA348405689PROCc.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)

Number of alleles fetched