Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428766T>A | CA348406254 | PROC | c.1206T>A (p.Ser402Arg) c.530T>A c.1308T>A (p.Ser436Arg) c.1389T>A (p.Ser463Arg) c.1371T>A (p.Ser457Arg) c.1269T>A (p.Ser423Arg) n.1332-502A>T c.1449T>A (p.Ser483Arg) c.1551T>A (p.Ser517Arg) c.1491T>A (p.Ser497Arg) n.3607-502A>T n.4043-502A>T c.1374T>A (p.Ser458Arg) c.1392T>A (p.Ser464Arg) c.1149T>A (p.Ser383Arg) c.1182T>A (p.Ser394Arg) c.1200T>A (p.Ser400Arg) | |
2 | g.127428766T>C | CA428872428 | PROC | c.1206T>C (p.Ser402=) c.530T>C c.1308T>C (p.Ser436=) c.1389T>C (p.Ser463=) c.1371T>C (p.Ser457=) c.1269T>C (p.Ser423=) n.1332-502A>G c.1449T>C (p.Ser483=) c.1551T>C (p.Ser517=) c.1491T>C (p.Ser497=) n.3607-502A>G n.4043-502A>G c.1374T>C (p.Ser458=) c.1392T>C (p.Ser464=) c.1149T>C (p.Ser383=) c.1182T>C (p.Ser394=) c.1200T>C (p.Ser400=) | dbSNP |
2 | g.127428766T>G | CA348406256 | PROC | c.1206T>G (p.Ser402Arg) c.530T>G c.1308T>G (p.Ser436Arg) c.1389T>G (p.Ser463Arg) c.1371T>G (p.Ser457Arg) c.1269T>G (p.Ser423Arg) n.1332-502A>C c.1449T>G (p.Ser483Arg) c.1551T>G (p.Ser517Arg) c.1491T>G (p.Ser497Arg) n.3607-502A>C n.4043-502A>C c.1374T>G (p.Ser458Arg) c.1392T>G (p.Ser464Arg) c.1149T>G (p.Ser383Arg) c.1182T>G (p.Ser394Arg) c.1200T>G (p.Ser400Arg) | |
2 | g.127428766T= | CA1286884637 | PROC | c.1206T= (p.Ser402=) c.530T= c.1308T= (p.Ser436=) c.1389T= (p.Ser463=) c.1371T= (p.Ser457=) c.1269T= (p.Ser423=) n.1332-502A= c.1449T= (p.Ser483=) c.1551T= (p.Ser517=) c.1491T= (p.Ser497=) n.3607-502A= n.4043-502A= c.1374T= (p.Ser458=) c.1392T= (p.Ser464=) c.1149T= (p.Ser383=) c.1182T= (p.Ser394=) c.1200T= (p.Ser400=) | |
2 | g.127428767G>A | CA348406260 | PROC | c.1207G>A (p.Gly403Arg) c.531G>A c.1309G>A (p.Gly437Arg) c.1390G>A (p.Gly464Arg) c.1372G>A (p.Gly458Arg) c.1270G>A (p.Gly424Arg) n.1332-503C>T c.1450G>A (p.Gly484Arg) c.1552G>A (p.Gly518Arg) c.1492G>A (p.Gly498Arg) n.3607-503C>T n.4043-503C>T c.1375G>A (p.Gly459Arg) c.1393G>A (p.Gly465Arg) c.1150G>A (p.Gly384Arg) c.1183G>A (p.Gly395Arg) c.1201G>A (p.Gly401Arg) | ClinVar |
2 | g.127428767G>C | CA348406262 | PROC | c.1207G>C (p.Gly403Arg) c.531G>C c.1309G>C (p.Gly437Arg) c.1390G>C (p.Gly464Arg) c.1372G>C (p.Gly458Arg) c.1270G>C (p.Gly424Arg) n.1332-503C>G c.1450G>C (p.Gly484Arg) c.1552G>C (p.Gly518Arg) c.1492G>C (p.Gly498Arg) n.3607-503C>G n.4043-503C>G c.1375G>C (p.Gly459Arg) c.1393G>C (p.Gly465Arg) c.1150G>C (p.Gly384Arg) c.1183G>C (p.Gly395Arg) c.1201G>C (p.Gly401Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428767G= | CA1286884638 | PROC | c.1207G= (p.Gly403=) c.531G= c.1309G= (p.Gly437=) c.1390G= (p.Gly464=) c.1372G= (p.Gly458=) c.1270G= (p.Gly424=) n.1332-503C= c.1450G= (p.Gly484=) c.1552G= (p.Gly518=) c.1492G= (p.Gly498=) n.3607-503C= n.4043-503C= c.1375G= (p.Gly459=) c.1393G= (p.Gly465=) c.1150G= (p.Gly384=) c.1183G= (p.Gly395=) c.1201G= (p.Gly401=) | |
2 | g.127428767G>T | CA348406258 | PROC | c.1207G>T (p.Gly403Trp) c.531G>T c.1309G>T (p.Gly437Trp) c.1390G>T (p.Gly464Trp) c.1372G>T (p.Gly458Trp) c.1270G>T (p.Gly424Trp) n.1332-503C>A c.1450G>T (p.Gly484Trp) c.1552G>T (p.Gly518Trp) c.1492G>T (p.Gly498Trp) n.3607-503C>A n.4043-503C>A c.1375G>T (p.Gly459Trp) c.1393G>T (p.Gly465Trp) c.1150G>T (p.Gly384Trp) c.1183G>T (p.Gly395Trp) c.1201G>T (p.Gly401Trp) | |
2 | g.127428772dup | CA16610244 | PROC | c.1212dup (p.Pro405AlafsTer20) c.536dup c.1314dup (p.Pro439AlafsTer20) c.1395dup (p.Pro466AlafsTer20) c.1377dup (p.Pro460AlafsTer20) c.1275dup (p.Pro426AlafsTer20) n.1332-503dup c.1455dup (p.Pro486AlafsTer20) c.1557dup (p.Pro520AlafsTer20) c.1497dup (p.Pro500AlafsTer20) n.3607-503dup n.4043-503dup c.1380dup (p.Pro461AlafsTer20) c.1398dup (p.Pro467AlafsTer20) c.1155dup (p.Pro386AlafsTer20) c.1188dup (p.Pro397AlafsTer20) c.1206dup (p.Pro403AlafsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.127428771_127428772dup | CA2832548004 | PROC | c.1211_1212dup (p.Pro405GlyfsTer17) c.535_536dup c.1313_1314dup (p.Pro439GlyfsTer17) c.1394_1395dup (p.Pro466GlyfsTer17) c.1376_1377dup (p.Pro460GlyfsTer17) c.1274_1275dup (p.Pro426GlyfsTer17) n.1332-504_1332-503dup c.1454_1455dup (p.Pro486GlyfsTer17) c.1556_1557dup (p.Pro520GlyfsTer17) c.1496_1497dup (p.Pro500GlyfsTer17) n.3607-504_3607-503dup n.4043-504_4043-503dup c.1379_1380dup (p.Pro461GlyfsTer17) c.1397_1398dup (p.Pro467GlyfsTer17) c.1154_1155dup (p.Pro386GlyfsTer17) c.1187_1188dup (p.Pro397GlyfsTer17) c.1205_1206dup (p.Pro403GlyfsTer17) | |
2 | g.127428772del | CA645516639 | PROC | c.1212del (p.Met406TrpfsTer15) c.536del c.1314del (p.Met440TrpfsTer15) c.1395del (p.Met467TrpfsTer15) c.1377del (p.Met461TrpfsTer15) c.1275del (p.Met427TrpfsTer15) n.1332-503del c.1455del (p.Met487TrpfsTer15) c.1557del (p.Met521TrpfsTer15) c.1497del (p.Met501TrpfsTer15) n.3607-503del n.4043-503del c.1380del (p.Met462TrpfsTer15) c.1398del (p.Met468TrpfsTer15) c.1155del (p.Met387TrpfsTer15) c.1188del (p.Met398TrpfsTer15) c.1206del (p.Met404TrpfsTer15) | COSMIC |
2 | g.127428771_127428772del | CA2586969922 | PROC | c.1211_1212del (p.Gly404AlafsTer20) c.535_536del c.1313_1314del (p.Gly438AlafsTer20) c.1394_1395del (p.Gly465AlafsTer20) c.1376_1377del (p.Gly459AlafsTer20) c.1274_1275del (p.Gly425AlafsTer20) n.1332-504_1332-503del c.1454_1455del (p.Gly485AlafsTer20) c.1556_1557del (p.Gly519AlafsTer20) c.1496_1497del (p.Gly499AlafsTer20) n.3607-504_3607-503del n.4043-504_4043-503del c.1379_1380del (p.Gly460AlafsTer20) c.1397_1398del (p.Gly466AlafsTer20) c.1154_1155del (p.Gly385AlafsTer20) c.1187_1188del (p.Gly396AlafsTer20) c.1205_1206del (p.Gly402AlafsTer20) | |
2 | g.127428768G>A | CA348406264 | PROC | c.1208G>A (p.Gly403Glu) c.532G>A c.1310G>A (p.Gly437Glu) c.1391G>A (p.Gly464Glu) c.1373G>A (p.Gly458Glu) c.1271G>A (p.Gly424Glu) n.1332-504C>T c.1451G>A (p.Gly484Glu) c.1553G>A (p.Gly518Glu) c.1493G>A (p.Gly498Glu) n.3607-504C>T n.4043-504C>T c.1376G>A (p.Gly459Glu) c.1394G>A (p.Gly465Glu) c.1151G>A (p.Gly384Glu) c.1184G>A (p.Gly395Glu) c.1202G>A (p.Gly401Glu) | |
2 | g.127428768G>C | CA348406265 | PROC | c.1208G>C (p.Gly403Ala) c.532G>C c.1310G>C (p.Gly437Ala) c.1391G>C (p.Gly464Ala) c.1373G>C (p.Gly458Ala) c.1271G>C (p.Gly424Ala) n.1332-504C>G c.1451G>C (p.Gly484Ala) c.1553G>C (p.Gly518Ala) c.1493G>C (p.Gly498Ala) n.3607-504C>G n.4043-504C>G c.1376G>C (p.Gly459Ala) c.1394G>C (p.Gly465Ala) c.1151G>C (p.Gly384Ala) c.1184G>C (p.Gly395Ala) c.1202G>C (p.Gly401Ala) | |
2 | g.127428768G>T | CA348406267 | PROC | c.1208G>T (p.Gly403Val) c.532G>T c.1310G>T (p.Gly437Val) c.1391G>T (p.Gly464Val) c.1373G>T (p.Gly458Val) c.1271G>T (p.Gly424Val) n.1332-504C>A c.1451G>T (p.Gly484Val) c.1553G>T (p.Gly518Val) c.1493G>T (p.Gly498Val) n.3607-504C>A n.4043-504C>A c.1376G>T (p.Gly459Val) c.1394G>T (p.Gly465Val) c.1151G>T (p.Gly384Val) c.1184G>T (p.Gly395Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
2 | g.127428769G>A | CA428872454 | PROC | c.1209G>A (p.Gly403=) c.533G>A c.1311G>A (p.Gly437=) c.1392G>A (p.Gly464=) c.1374G>A (p.Gly458=) c.1272G>A (p.Gly424=) n.1332-505C>T c.1452G>A (p.Gly484=) c.1554G>A (p.Gly518=) c.1494G>A (p.Gly498=) n.3607-505C>T n.4043-505C>T c.1377G>A (p.Gly459=) c.1395G>A (p.Gly465=) c.1152G>A (p.Gly384=) c.1185G>A (p.Gly395=) c.1203G>A (p.Gly401=) | gnomAD v4 |
2 | g.127428769G>C | CA428872451 | PROC | c.1209G>C (p.Gly403=) c.533G>C c.1311G>C (p.Gly437=) c.1392G>C (p.Gly464=) c.1374G>C (p.Gly458=) c.1272G>C (p.Gly424=) n.1332-505C>G c.1452G>C (p.Gly484=) c.1554G>C (p.Gly518=) c.1494G>C (p.Gly498=) n.3607-505C>G n.4043-505C>G c.1377G>C (p.Gly459=) c.1395G>C (p.Gly465=) c.1152G>C (p.Gly384=) c.1185G>C (p.Gly395=) c.1203G>C (p.Gly401=) | |
2 | g.127428769G>T | CA428872448 | PROC | c.1209G>T (p.Gly403=) c.533G>T c.1311G>T (p.Gly437=) c.1392G>T (p.Gly464=) c.1374G>T (p.Gly458=) c.1272G>T (p.Gly424=) n.1332-505C>A c.1452G>T (p.Gly484=) c.1554G>T (p.Gly518=) c.1494G>T (p.Gly498=) n.3607-505C>A n.4043-505C>A c.1377G>T (p.Gly459=) c.1395G>T (p.Gly465=) c.1152G>T (p.Gly384=) c.1185G>T (p.Gly395=) c.1203G>T (p.Gly401=) | |
2 | g.127428770G>A | CA348406270 | PROC | c.1210G>A (p.Gly404Arg) c.534G>A c.1312G>A (p.Gly438Arg) c.1393G>A (p.Gly465Arg) c.1375G>A (p.Gly459Arg) c.1273G>A (p.Gly425Arg) n.1332-506C>T c.1453G>A (p.Gly485Arg) c.1555G>A (p.Gly519Arg) c.1495G>A (p.Gly499Arg) n.3607-506C>T n.4043-506C>T c.1378G>A (p.Gly460Arg) c.1396G>A (p.Gly466Arg) c.1153G>A (p.Gly385Arg) c.1186G>A (p.Gly396Arg) c.1204G>A (p.Gly402Arg) | |
2 | g.127428770G>C | CA348406271 | PROC | c.1210G>C (p.Gly404Arg) c.534G>C c.1312G>C (p.Gly438Arg) c.1393G>C (p.Gly465Arg) c.1375G>C (p.Gly459Arg) c.1273G>C (p.Gly425Arg) n.1332-506C>G c.1453G>C (p.Gly485Arg) c.1555G>C (p.Gly519Arg) c.1495G>C (p.Gly499Arg) n.3607-506C>G n.4043-506C>G c.1378G>C (p.Gly460Arg) c.1396G>C (p.Gly466Arg) c.1153G>C (p.Gly385Arg) c.1186G>C (p.Gly396Arg) c.1204G>C (p.Gly402Arg) | |
2 | g.127428770G>T | CA348406273 | PROC | c.1210G>T (p.Gly404Trp) c.534G>T c.1312G>T (p.Gly438Trp) c.1393G>T (p.Gly465Trp) c.1375G>T (p.Gly459Trp) c.1273G>T (p.Gly425Trp) n.1332-506C>A c.1453G>T (p.Gly485Trp) c.1555G>T (p.Gly519Trp) c.1495G>T (p.Gly499Trp) n.3607-506C>A n.4043-506C>A c.1378G>T (p.Gly460Trp) c.1396G>T (p.Gly466Trp) c.1153G>T (p.Gly385Trp) c.1186G>T (p.Gly396Trp) c.1204G>T (p.Gly402Trp) | |
2 | g.127428771G>A | CA348406275 | PROC | c.1211G>A (p.Gly404Glu) c.535G>A c.1313G>A (p.Gly438Glu) c.1394G>A (p.Gly465Glu) c.1376G>A (p.Gly459Glu) c.1274G>A (p.Gly425Glu) n.1332-507C>T c.1454G>A (p.Gly485Glu) c.1556G>A (p.Gly519Glu) c.1496G>A (p.Gly499Glu) n.3607-507C>T n.4043-507C>T c.1379G>A (p.Gly460Glu) c.1397G>A (p.Gly466Glu) c.1154G>A (p.Gly385Glu) c.1187G>A (p.Gly396Glu) c.1205G>A (p.Gly402Glu) | gnomAD v4 |
2 | g.127428771G>C | CA348406277 | PROC | c.1211G>C (p.Gly404Ala) c.535G>C c.1313G>C (p.Gly438Ala) c.1394G>C (p.Gly465Ala) c.1376G>C (p.Gly459Ala) c.1274G>C (p.Gly425Ala) n.1332-507C>G c.1454G>C (p.Gly485Ala) c.1556G>C (p.Gly519Ala) c.1496G>C (p.Gly499Ala) n.3607-507C>G n.4043-507C>G c.1379G>C (p.Gly460Ala) c.1397G>C (p.Gly466Ala) c.1154G>C (p.Gly385Ala) c.1187G>C (p.Gly396Ala) c.1205G>C (p.Gly402Ala) | |
2 | g.127428771G>T | CA348406276 | PROC | c.1211G>T (p.Gly404Val) c.535G>T c.1313G>T (p.Gly438Val) c.1394G>T (p.Gly465Val) c.1376G>T (p.Gly459Val) c.1274G>T (p.Gly425Val) n.1332-507C>A c.1454G>T (p.Gly485Val) c.1556G>T (p.Gly519Val) c.1496G>T (p.Gly499Val) n.3607-507C>A n.4043-507C>A c.1379G>T (p.Gly460Val) c.1397G>T (p.Gly466Val) c.1154G>T (p.Gly385Val) c.1187G>T (p.Gly396Val) c.1205G>T (p.Gly402Val) | |
2 | g.127428772G>A | CA1859546 | PROC | c.1212G>A (p.Gly404=) c.536G>A c.1314G>A (p.Gly438=) c.1395G>A (p.Gly465=) c.1377G>A (p.Gly459=) c.1275G>A (p.Gly425=) n.1332-508C>T c.1455G>A (p.Gly485=) c.1557G>A (p.Gly519=) c.1497G>A (p.Gly499=) n.3607-508C>T n.4043-508C>T c.1380G>A (p.Gly460=) c.1398G>A (p.Gly466=) c.1155G>A (p.Gly385=) c.1188G>A (p.Gly396=) c.1206G>A (p.Gly402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428772G>C | CA428872473 | PROC | c.1212G>C (p.Gly404=) c.536G>C c.1314G>C (p.Gly438=) c.1395G>C (p.Gly465=) c.1377G>C (p.Gly459=) c.1275G>C (p.Gly425=) n.1332-508C>G c.1455G>C (p.Gly485=) c.1557G>C (p.Gly519=) c.1497G>C (p.Gly499=) n.3607-508C>G n.4043-508C>G c.1380G>C (p.Gly460=) c.1398G>C (p.Gly466=) c.1155G>C (p.Gly385=) c.1188G>C (p.Gly396=) c.1206G>C (p.Gly402=) | |
2 | g.127428772G= | CA1286884639 | PROC | c.1212G= (p.Gly404=) c.536G= c.1314G= (p.Gly438=) c.1395G= (p.Gly465=) c.1377G= (p.Gly459=) c.1275G= (p.Gly425=) n.1332-508C= c.1455G= (p.Gly485=) c.1557G= (p.Gly519=) c.1497G= (p.Gly499=) n.3607-508C= n.4043-508C= c.1380G= (p.Gly460=) c.1398G= (p.Gly466=) c.1155G= (p.Gly385=) c.1188G= (p.Gly396=) c.1206G= (p.Gly402=) | |
2 | g.127428772G>T | CA428872471 | PROC | c.1212G>T (p.Gly404=) c.536G>T c.1314G>T (p.Gly438=) c.1395G>T (p.Gly465=) c.1377G>T (p.Gly459=) c.1275G>T (p.Gly425=) n.1332-508C>A c.1455G>T (p.Gly485=) c.1557G>T (p.Gly519=) c.1497G>T (p.Gly499=) n.3607-508C>A n.4043-508C>A c.1380G>T (p.Gly460=) c.1398G>T (p.Gly466=) c.1155G>T (p.Gly385=) c.1188G>T (p.Gly396=) c.1206G>T (p.Gly402=) | |
2 | g.127428773C>A | CA348406279 | PROC | c.1213C>A (p.Pro405Thr) c.537C>A c.1315C>A (p.Pro439Thr) c.1396C>A (p.Pro466Thr) c.1378C>A (p.Pro460Thr) c.1276C>A (p.Pro426Thr) n.1332-509G>T c.1456C>A (p.Pro486Thr) c.1558C>A (p.Pro520Thr) c.1498C>A (p.Pro500Thr) n.3607-509G>T n.4043-509G>T c.1381C>A (p.Pro461Thr) c.1399C>A (p.Pro467Thr) c.1156C>A (p.Pro386Thr) c.1189C>A (p.Pro397Thr) c.1207C>A (p.Pro403Thr) | |
2 | g.127428773C= | CA1286884640 | PROC | c.1213C= (p.Pro405=) c.537C= c.1315C= (p.Pro439=) c.1396C= (p.Pro466=) c.1378C= (p.Pro460=) c.1276C= (p.Pro426=) n.1332-509G= c.1456C= (p.Pro486=) c.1558C= (p.Pro520=) c.1498C= (p.Pro500=) n.3607-509G= n.4043-509G= c.1381C= (p.Pro461=) c.1399C= (p.Pro467=) c.1156C= (p.Pro386=) c.1189C= (p.Pro397=) c.1207C= (p.Pro403=) | |
2 | g.127428773C>G | CA348406280 | PROC | c.1213C>G (p.Pro405Ala) c.537C>G c.1315C>G (p.Pro439Ala) c.1396C>G (p.Pro466Ala) c.1378C>G (p.Pro460Ala) c.1276C>G (p.Pro426Ala) n.1332-509G>C c.1456C>G (p.Pro486Ala) c.1558C>G (p.Pro520Ala) c.1498C>G (p.Pro500Ala) n.3607-509G>C n.4043-509G>C c.1381C>G (p.Pro461Ala) c.1399C>G (p.Pro467Ala) c.1156C>G (p.Pro386Ala) c.1189C>G (p.Pro397Ala) c.1207C>G (p.Pro403Ala) | dbSNP |
2 | g.127428773C>T | CA348406282 | PROC | c.1213C>T (p.Pro405Ser) c.537C>T c.1315C>T (p.Pro439Ser) c.1396C>T (p.Pro466Ser) c.1378C>T (p.Pro460Ser) c.1276C>T (p.Pro426Ser) n.1332-509G>A c.1456C>T (p.Pro486Ser) c.1558C>T (p.Pro520Ser) c.1498C>T (p.Pro500Ser) n.3607-509G>A n.4043-509G>A c.1381C>T (p.Pro461Ser) c.1399C>T (p.Pro467Ser) c.1156C>T (p.Pro386Ser) c.1189C>T (p.Pro397Ser) c.1207C>T (p.Pro403Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.127428775dup | CA2842875940 | PROC | c.1215dup (p.Met406HisfsTer19) c.539dup c.1317dup (p.Met440HisfsTer19) c.1398dup (p.Met467HisfsTer19) c.1380dup (p.Met461HisfsTer19) c.1278dup (p.Met427HisfsTer19) n.1332-509dup c.1458dup (p.Met487HisfsTer19) c.1560dup (p.Met521HisfsTer19) c.1500dup (p.Met501HisfsTer19) n.3607-509dup n.4043-509dup c.1383dup (p.Met462HisfsTer19) c.1401dup (p.Met468HisfsTer19) c.1158dup (p.Met387HisfsTer19) c.1191dup (p.Met398HisfsTer19) c.1209dup (p.Met404HisfsTer19) | |
2 | g.127428775del | CA2586969923 | PROC | c.1215del (p.Met406TrpfsTer15) c.539del c.1317del (p.Met440TrpfsTer15) c.1398del (p.Met467TrpfsTer15) c.1380del (p.Met461TrpfsTer15) c.1278del (p.Met427TrpfsTer15) n.1332-509del c.1458del (p.Met487TrpfsTer15) c.1560del (p.Met521TrpfsTer15) c.1500del (p.Met501TrpfsTer15) n.3607-509del n.4043-509del c.1383del (p.Met462TrpfsTer15) c.1401del (p.Met468TrpfsTer15) c.1158del (p.Met387TrpfsTer15) c.1191del (p.Met398TrpfsTer15) c.1209del (p.Met404TrpfsTer15) | |
2 | g.127428774C>A | CA348406284 | PROC | c.1214C>A (p.Pro405His) c.538C>A c.1316C>A (p.Pro439His) c.1397C>A (p.Pro466His) c.1379C>A (p.Pro460His) c.1277C>A (p.Pro426His) n.1332-510G>T c.1457C>A (p.Pro486His) c.1559C>A (p.Pro520His) c.1499C>A (p.Pro500His) n.3607-510G>T n.4043-510G>T c.1382C>A (p.Pro461His) c.1400C>A (p.Pro467His) c.1157C>A (p.Pro386His) c.1190C>A (p.Pro397His) c.1208C>A (p.Pro403His) | |
2 | g.127428774C>G | CA348406287 | PROC | c.1214C>G (p.Pro405Arg) c.538C>G c.1316C>G (p.Pro439Arg) c.1397C>G (p.Pro466Arg) c.1379C>G (p.Pro460Arg) c.1277C>G (p.Pro426Arg) n.1332-510G>C c.1457C>G (p.Pro486Arg) c.1559C>G (p.Pro520Arg) c.1499C>G (p.Pro500Arg) n.3607-510G>C n.4043-510G>C c.1382C>G (p.Pro461Arg) c.1400C>G (p.Pro467Arg) c.1157C>G (p.Pro386Arg) c.1190C>G (p.Pro397Arg) c.1208C>G (p.Pro403Arg) | |
2 | g.127428774C>T | CA348406286 | PROC | c.1214C>T (p.Pro405Leu) c.538C>T c.1316C>T (p.Pro439Leu) c.1397C>T (p.Pro466Leu) c.1379C>T (p.Pro460Leu) c.1277C>T (p.Pro426Leu) n.1332-510G>A c.1457C>T (p.Pro486Leu) c.1559C>T (p.Pro520Leu) c.1499C>T (p.Pro500Leu) n.3607-510G>A n.4043-510G>A c.1382C>T (p.Pro461Leu) c.1400C>T (p.Pro467Leu) c.1157C>T (p.Pro386Leu) c.1190C>T (p.Pro397Leu) c.1208C>T (p.Pro403Leu) | |
2 | g.127428775C>A | CA428872493 | PROC | c.1215C>A (p.Pro405=) c.539C>A c.1317C>A (p.Pro439=) c.1398C>A (p.Pro466=) c.1380C>A (p.Pro460=) c.1278C>A (p.Pro426=) n.1332-511G>T c.1458C>A (p.Pro486=) c.1560C>A (p.Pro520=) c.1500C>A (p.Pro500=) n.3607-511G>T n.4043-511G>T c.1383C>A (p.Pro461=) c.1401C>A (p.Pro467=) c.1158C>A (p.Pro386=) c.1191C>A (p.Pro397=) c.1209C>A (p.Pro403=) | |
2 | g.127428775C= | CA1286884641 | PROC | c.1215C= (p.Pro405=) c.539C= c.1317C= (p.Pro439=) c.1398C= (p.Pro466=) c.1380C= (p.Pro460=) c.1278C= (p.Pro426=) n.1332-511G= c.1458C= (p.Pro486=) c.1560C= (p.Pro520=) c.1500C= (p.Pro500=) n.3607-511G= n.4043-511G= c.1383C= (p.Pro461=) c.1401C= (p.Pro467=) c.1158C= (p.Pro386=) c.1191C= (p.Pro397=) c.1209C= (p.Pro403=) | |
2 | g.127428775C>G | CA428872495 | PROC | c.1215C>G (p.Pro405=) c.539C>G c.1317C>G (p.Pro439=) c.1398C>G (p.Pro466=) c.1380C>G (p.Pro460=) c.1278C>G (p.Pro426=) n.1332-511G>C c.1458C>G (p.Pro486=) c.1560C>G (p.Pro520=) c.1500C>G (p.Pro500=) n.3607-511G>C n.4043-511G>C c.1383C>G (p.Pro461=) c.1401C>G (p.Pro467=) c.1158C>G (p.Pro386=) c.1191C>G (p.Pro397=) c.1209C>G (p.Pro403=) | dbSNP |
2 | g.127428775C>T | CA428872496 | PROC | c.1215C>T (p.Pro405=) c.539C>T c.1317C>T (p.Pro439=) c.1398C>T (p.Pro466=) c.1380C>T (p.Pro460=) c.1278C>T (p.Pro426=) n.1332-511G>A c.1458C>T (p.Pro486=) c.1560C>T (p.Pro520=) c.1500C>T (p.Pro500=) n.3607-511G>A n.4043-511G>A c.1383C>T (p.Pro461=) c.1401C>T (p.Pro467=) c.1158C>T (p.Pro386=) c.1191C>T (p.Pro397=) c.1209C>T (p.Pro403=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428776A= | CA1286884642 | PROC | c.1216A= (p.Met406=) c.540A= c.1318A= (p.Met440=) c.1399A= (p.Met467=) c.1381A= (p.Met461=) c.1279A= (p.Met427=) n.1332-512T= c.1459A= (p.Met487=) c.1561A= (p.Met521=) c.1501A= (p.Met501=) n.3607-512T= n.4043-512T= c.1384A= (p.Met462=) c.1402A= (p.Met468=) c.1159A= (p.Met387=) c.1192A= (p.Met398=) c.1210A= (p.Met404=) | |
2 | g.127428776A>C | CA348406290 | PROC | c.1216A>C (p.Met406Leu) c.540A>C c.1318A>C (p.Met440Leu) c.1399A>C (p.Met467Leu) c.1381A>C (p.Met461Leu) c.1279A>C (p.Met427Leu) n.1332-512T>G c.1459A>C (p.Met487Leu) c.1561A>C (p.Met521Leu) c.1501A>C (p.Met501Leu) n.3607-512T>G n.4043-512T>G c.1384A>C (p.Met462Leu) c.1402A>C (p.Met468Leu) c.1159A>C (p.Met387Leu) c.1192A>C (p.Met398Leu) c.1210A>C (p.Met404Leu) | dbSNP |
2 | g.127428776A>G | CA348406293 | PROC | c.1216A>G (p.Met406Val) c.540A>G c.1318A>G (p.Met440Val) c.1399A>G (p.Met467Val) c.1381A>G (p.Met461Val) c.1279A>G (p.Met427Val) n.1332-512T>C c.1459A>G (p.Met487Val) c.1561A>G (p.Met521Val) c.1501A>G (p.Met501Val) n.3607-512T>C n.4043-512T>C c.1384A>G (p.Met462Val) c.1402A>G (p.Met468Val) c.1159A>G (p.Met387Val) c.1192A>G (p.Met398Val) c.1210A>G (p.Met404Val) | ClinVar dbSNP COSMIC COSMIC |
2 | g.127428776A>T | CA348406292 | PROC | c.1216A>T (p.Met406Leu) c.540A>T c.1318A>T (p.Met440Leu) c.1399A>T (p.Met467Leu) c.1381A>T (p.Met461Leu) c.1279A>T (p.Met427Leu) n.1332-512T>A c.1459A>T (p.Met487Leu) c.1561A>T (p.Met521Leu) c.1501A>T (p.Met501Leu) n.3607-512T>A n.4043-512T>A c.1384A>T (p.Met462Leu) c.1402A>T (p.Met468Leu) c.1159A>T (p.Met387Leu) c.1192A>T (p.Met398Leu) c.1210A>T (p.Met404Leu) | |
2 | g.127428777T>A | CA1859547 | PROC | c.1217T>A (p.Met406Lys) c.541T>A c.1319T>A (p.Met440Lys) c.1400T>A (p.Met467Lys) c.1382T>A (p.Met461Lys) c.1280T>A (p.Met427Lys) n.1332-513A>T c.1460T>A (p.Met487Lys) c.1562T>A (p.Met521Lys) c.1502T>A (p.Met501Lys) n.3607-513A>T n.4043-513A>T c.1385T>A (p.Met462Lys) c.1403T>A (p.Met468Lys) c.1160T>A (p.Met387Lys) c.1193T>A (p.Met398Lys) c.1211T>A (p.Met404Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428777T>C | CA348406297 | PROC | c.1217T>C (p.Met406Thr) c.541T>C c.1319T>C (p.Met440Thr) c.1400T>C (p.Met467Thr) c.1382T>C (p.Met461Thr) c.1280T>C (p.Met427Thr) n.1332-513A>G c.1460T>C (p.Met487Thr) c.1562T>C (p.Met521Thr) c.1502T>C (p.Met501Thr) n.3607-513A>G n.4043-513A>G c.1385T>C (p.Met462Thr) c.1403T>C (p.Met468Thr) c.1160T>C (p.Met387Thr) c.1193T>C (p.Met398Thr) c.1211T>C (p.Met404Thr) | dbSNP gnomAD v4 |
2 | g.127428777T>G | CA348406298 | PROC | c.1217T>G (p.Met406Arg) c.541T>G c.1319T>G (p.Met440Arg) c.1400T>G (p.Met467Arg) c.1382T>G (p.Met461Arg) c.1280T>G (p.Met427Arg) n.1332-513A>C c.1460T>G (p.Met487Arg) c.1562T>G (p.Met521Arg) c.1502T>G (p.Met501Arg) n.3607-513A>C n.4043-513A>C c.1385T>G (p.Met462Arg) c.1403T>G (p.Met468Arg) c.1160T>G (p.Met387Arg) c.1193T>G (p.Met398Arg) c.1211T>G (p.Met404Arg) | |
2 | g.127428777T= | CA1286884643 | PROC | c.1217T= (p.Met406=) c.541T= c.1319T= (p.Met440=) c.1400T= (p.Met467=) c.1382T= (p.Met461=) c.1280T= (p.Met427=) n.1332-513A= c.1460T= (p.Met487=) c.1562T= (p.Met521=) c.1502T= (p.Met501=) n.3607-513A= n.4043-513A= c.1385T= (p.Met462=) c.1403T= (p.Met468=) c.1160T= (p.Met387=) c.1193T= (p.Met398=) c.1211T= (p.Met404=) | |
2 | g.127428778G>A | CA1859548 | PROC | c.1218G>A (p.Met406Ile) c.542G>A c.1320G>A (p.Met440Ile) c.1401G>A (p.Met467Ile) c.1383G>A (p.Met461Ile) c.1281G>A (p.Met427Ile) n.1332-514C>T c.1461G>A (p.Met487Ile) c.1563G>A (p.Met521Ile) c.1503G>A (p.Met501Ile) n.3607-514C>T n.4043-514C>T c.1386G>A (p.Met462Ile) c.1404G>A (p.Met468Ile) c.1161G>A (p.Met387Ile) c.1194G>A (p.Met398Ile) c.1212G>A (p.Met404Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428778G>C | CA348406302 | PROC | c.1218G>C (p.Met406Ile) c.542G>C c.1320G>C (p.Met440Ile) c.1401G>C (p.Met467Ile) c.1383G>C (p.Met461Ile) c.1281G>C (p.Met427Ile) n.1332-514C>G c.1461G>C (p.Met487Ile) c.1563G>C (p.Met521Ile) c.1503G>C (p.Met501Ile) n.3607-514C>G n.4043-514C>G c.1386G>C (p.Met462Ile) c.1404G>C (p.Met468Ile) c.1161G>C (p.Met387Ile) c.1194G>C (p.Met398Ile) c.1212G>C (p.Met404Ile) | |
2 | g.127428778G= | CA1286884644 | PROC | c.1218G= (p.Met406=) c.542G= c.1320G= (p.Met440=) c.1401G= (p.Met467=) c.1383G= (p.Met461=) c.1281G= (p.Met427=) n.1332-514C= c.1461G= (p.Met487=) c.1563G= (p.Met521=) c.1503G= (p.Met501=) n.3607-514C= n.4043-514C= c.1386G= (p.Met462=) c.1404G= (p.Met468=) c.1161G= (p.Met387=) c.1194G= (p.Met398=) c.1212G= (p.Met404=) | |
2 | g.127428778G>T | CA348406304 | PROC | c.1218G>T (p.Met406Ile) c.542G>T c.1320G>T (p.Met440Ile) c.1401G>T (p.Met467Ile) c.1383G>T (p.Met461Ile) c.1281G>T (p.Met427Ile) n.1332-514C>A c.1461G>T (p.Met487Ile) c.1563G>T (p.Met521Ile) c.1503G>T (p.Met501Ile) n.3607-514C>A n.4043-514C>A c.1386G>T (p.Met462Ile) c.1404G>T (p.Met468Ile) c.1161G>T (p.Met387Ile) c.1194G>T (p.Met398Ile) c.1212G>T (p.Met404Ile) | |
2 | g.127428779G>A | CA348406306 | PROC | c.1219G>A (p.Val407Ile) c.543G>A c.1321G>A (p.Val441Ile) c.1402G>A (p.Val468Ile) c.1384G>A (p.Val462Ile) c.1282G>A (p.Val428Ile) n.1332-515C>T c.1462G>A (p.Val488Ile) c.1564G>A (p.Val522Ile) c.1504G>A (p.Val502Ile) n.3607-515C>T n.4043-515C>T c.1387G>A (p.Val463Ile) c.1405G>A (p.Val469Ile) c.1162G>A (p.Val388Ile) c.1195G>A (p.Val399Ile) c.1213G>A (p.Val405Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428779G>C | CA348406308 | PROC | c.1219G>C (p.Val407Leu) c.543G>C c.1321G>C (p.Val441Leu) c.1402G>C (p.Val468Leu) c.1384G>C (p.Val462Leu) c.1282G>C (p.Val428Leu) n.1332-515C>G c.1462G>C (p.Val488Leu) c.1564G>C (p.Val522Leu) c.1504G>C (p.Val502Leu) n.3607-515C>G n.4043-515C>G c.1387G>C (p.Val463Leu) c.1405G>C (p.Val469Leu) c.1162G>C (p.Val388Leu) c.1195G>C (p.Val399Leu) c.1213G>C (p.Val405Leu) | |
2 | g.127428779G= | CA1286884645 | PROC | c.1219G= (p.Val407=) c.543G= c.1321G= (p.Val441=) c.1402G= (p.Val468=) c.1384G= (p.Val462=) c.1282G= (p.Val428=) n.1332-515C= c.1462G= (p.Val488=) c.1564G= (p.Val522=) c.1504G= (p.Val502=) n.3607-515C= n.4043-515C= c.1387G= (p.Val463=) c.1405G= (p.Val469=) c.1162G= (p.Val388=) c.1195G= (p.Val399=) c.1213G= (p.Val405=) | |
2 | g.127428779G>T | CA348406310 | PROC | c.1219G>T (p.Val407Phe) c.543G>T c.1321G>T (p.Val441Phe) c.1402G>T (p.Val468Phe) c.1384G>T (p.Val462Phe) c.1282G>T (p.Val428Phe) n.1332-515C>A c.1462G>T (p.Val488Phe) c.1564G>T (p.Val522Phe) c.1504G>T (p.Val502Phe) n.3607-515C>A n.4043-515C>A c.1387G>T (p.Val463Phe) c.1405G>T (p.Val469Phe) c.1162G>T (p.Val388Phe) c.1195G>T (p.Val399Phe) c.1213G>T (p.Val405Phe) | |
2 | g.127428780T>A | CA348406312 | PROC | c.1220T>A (p.Val407Asp) c.544T>A c.1322T>A (p.Val441Asp) c.1403T>A (p.Val468Asp) c.1385T>A (p.Val462Asp) c.1283T>A (p.Val428Asp) n.1332-516A>T c.1463T>A (p.Val488Asp) c.1565T>A (p.Val522Asp) c.1505T>A (p.Val502Asp) n.3607-516A>T n.4043-516A>T c.1388T>A (p.Val463Asp) c.1406T>A (p.Val469Asp) c.1163T>A (p.Val388Asp) c.1196T>A (p.Val399Asp) c.1214T>A (p.Val405Asp) | |
2 | g.127428780T>C | CA348406314 | PROC | c.1220T>C (p.Val407Ala) c.544T>C c.1322T>C (p.Val441Ala) c.1403T>C (p.Val468Ala) c.1385T>C (p.Val462Ala) c.1283T>C (p.Val428Ala) n.1332-516A>G c.1463T>C (p.Val488Ala) c.1565T>C (p.Val522Ala) c.1505T>C (p.Val502Ala) n.3607-516A>G n.4043-516A>G c.1388T>C (p.Val463Ala) c.1406T>C (p.Val469Ala) c.1163T>C (p.Val388Ala) c.1196T>C (p.Val399Ala) c.1214T>C (p.Val405Ala) | |
2 | g.127428780T>G | CA348406316 | PROC | c.1220T>G (p.Val407Gly) c.544T>G c.1322T>G (p.Val441Gly) c.1403T>G (p.Val468Gly) c.1385T>G (p.Val462Gly) c.1283T>G (p.Val428Gly) n.1332-516A>C c.1463T>G (p.Val488Gly) c.1565T>G (p.Val522Gly) c.1505T>G (p.Val502Gly) n.3607-516A>C n.4043-516A>C c.1388T>G (p.Val463Gly) c.1406T>G (p.Val469Gly) c.1163T>G (p.Val388Gly) c.1196T>G (p.Val399Gly) c.1214T>G (p.Val405Gly) | dbSNP |
2 | g.127428780T= | CA1286884646 | PROC | c.1220T= (p.Val407=) c.544T= c.1322T= (p.Val441=) c.1403T= (p.Val468=) c.1385T= (p.Val462=) c.1283T= (p.Val428=) n.1332-516A= c.1463T= (p.Val488=) c.1565T= (p.Val522=) c.1505T= (p.Val502=) n.3607-516A= n.4043-516A= c.1388T= (p.Val463=) c.1406T= (p.Val469=) c.1163T= (p.Val388=) c.1196T= (p.Val399=) c.1214T= (p.Val405=) | |
2 | g.127428781C>A | CA428872528 | PROC | c.1221C>A (p.Val407=) c.545C>A c.1323C>A (p.Val441=) c.1404C>A (p.Val468=) c.1386C>A (p.Val462=) c.1284C>A (p.Val428=) n.1332-517G>T c.1464C>A (p.Val488=) c.1566C>A (p.Val522=) c.1506C>A (p.Val502=) n.3607-517G>T n.4043-517G>T c.1389C>A (p.Val463=) c.1407C>A (p.Val469=) c.1164C>A (p.Val388=) c.1197C>A (p.Val399=) c.1215C>A (p.Val405=) | gnomAD v4 |
2 | g.127428781C= | CA1286884647 | PROC | c.1221C= (p.Val407=) c.545C= c.1323C= (p.Val441=) c.1404C= (p.Val468=) c.1386C= (p.Val462=) c.1284C= (p.Val428=) n.1332-517G= c.1464C= (p.Val488=) c.1566C= (p.Val522=) c.1506C= (p.Val502=) n.3607-517G= n.4043-517G= c.1389C= (p.Val463=) c.1407C= (p.Val469=) c.1164C= (p.Val388=) c.1197C= (p.Val399=) c.1215C= (p.Val405=) | |
2 | g.127428781C>G | CA428872531 | PROC | c.1221C>G (p.Val407=) c.545C>G c.1323C>G (p.Val441=) c.1404C>G (p.Val468=) c.1386C>G (p.Val462=) c.1284C>G (p.Val428=) n.1332-517G>C c.1464C>G (p.Val488=) c.1566C>G (p.Val522=) c.1506C>G (p.Val502=) n.3607-517G>C n.4043-517G>C c.1389C>G (p.Val463=) c.1407C>G (p.Val469=) c.1164C>G (p.Val388=) c.1197C>G (p.Val399=) c.1215C>G (p.Val405=) | dbSNP gnomAD v4 |
2 | g.127428781C>T | CA1859549 | PROC | c.1221C>T (p.Val407=) c.545C>T c.1323C>T (p.Val441=) c.1404C>T (p.Val468=) c.1386C>T (p.Val462=) c.1284C>T (p.Val428=) n.1332-517G>A c.1464C>T (p.Val488=) c.1566C>T (p.Val522=) c.1506C>T (p.Val502=) n.3607-517G>A n.4043-517G>A c.1389C>T (p.Val463=) c.1407C>T (p.Val469=) c.1164C>T (p.Val388=) c.1197C>T (p.Val399=) c.1215C>T (p.Val405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428782G>A | CA1859550 | PROC | c.1222G>A (p.Ala408Thr) c.546G>A c.1324G>A (p.Ala442Thr) c.1405G>A (p.Ala469Thr) c.1387G>A (p.Ala463Thr) c.1285G>A (p.Ala429Thr) n.1332-518C>T c.1465G>A (p.Ala489Thr) c.1567G>A (p.Ala523Thr) c.1507G>A (p.Ala503Thr) n.3607-518C>T n.4043-518C>T c.1390G>A (p.Ala464Thr) c.1408G>A (p.Ala470Thr) c.1165G>A (p.Ala389Thr) c.1198G>A (p.Ala400Thr) c.1216G>A (p.Ala406Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428782G>C | CA348406322 | PROC | c.1222G>C (p.Ala408Pro) c.546G>C c.1324G>C (p.Ala442Pro) c.1405G>C (p.Ala469Pro) c.1387G>C (p.Ala463Pro) c.1285G>C (p.Ala429Pro) n.1332-518C>G c.1465G>C (p.Ala489Pro) c.1567G>C (p.Ala523Pro) c.1507G>C (p.Ala503Pro) n.3607-518C>G n.4043-518C>G c.1390G>C (p.Ala464Pro) c.1408G>C (p.Ala470Pro) c.1165G>C (p.Ala389Pro) c.1198G>C (p.Ala400Pro) c.1216G>C (p.Ala406Pro) | |
2 | g.127428782G= | CA1286884648 | PROC | c.1222G= (p.Ala408=) c.546G= c.1324G= (p.Ala442=) c.1405G= (p.Ala469=) c.1387G= (p.Ala463=) c.1285G= (p.Ala429=) n.1332-518C= c.1465G= (p.Ala489=) c.1567G= (p.Ala523=) c.1507G= (p.Ala503=) n.3607-518C= n.4043-518C= c.1390G= (p.Ala464=) c.1408G= (p.Ala470=) c.1165G= (p.Ala389=) c.1198G= (p.Ala400=) c.1216G= (p.Ala406=) | |
2 | g.127428782G>T | CA348406324 | PROC | c.1222G>T (p.Ala408Ser) c.546G>T c.1324G>T (p.Ala442Ser) c.1405G>T (p.Ala469Ser) c.1387G>T (p.Ala463Ser) c.1285G>T (p.Ala429Ser) n.1332-518C>A c.1465G>T (p.Ala489Ser) c.1567G>T (p.Ala523Ser) c.1507G>T (p.Ala503Ser) n.3607-518C>A n.4043-518C>A c.1390G>T (p.Ala464Ser) c.1408G>T (p.Ala470Ser) c.1165G>T (p.Ala389Ser) c.1198G>T (p.Ala400Ser) c.1216G>T (p.Ala406Ser) | |
2 | g.127428783C>A | CA348406326 | PROC | c.1223C>A (p.Ala408Asp) c.547C>A c.1325C>A (p.Ala442Asp) c.1406C>A (p.Ala469Asp) c.1388C>A (p.Ala463Asp) c.1286C>A (p.Ala429Asp) n.1332-519G>T c.1466C>A (p.Ala489Asp) c.1568C>A (p.Ala523Asp) c.1508C>A (p.Ala503Asp) n.3607-519G>T n.4043-519G>T c.1391C>A (p.Ala464Asp) c.1409C>A (p.Ala470Asp) c.1166C>A (p.Ala389Asp) c.1199C>A (p.Ala400Asp) c.1217C>A (p.Ala406Asp) | |
2 | g.127428783C= | CA1286884649 | PROC | c.1223C= (p.Ala408=) c.547C= c.1325C= (p.Ala442=) c.1406C= (p.Ala469=) c.1388C= (p.Ala463=) c.1286C= (p.Ala429=) n.1332-519G= c.1466C= (p.Ala489=) c.1568C= (p.Ala523=) c.1508C= (p.Ala503=) n.3607-519G= n.4043-519G= c.1391C= (p.Ala464=) c.1409C= (p.Ala470=) c.1166C= (p.Ala389=) c.1199C= (p.Ala400=) c.1217C= (p.Ala406=) | |
2 | g.127428783C>G | CA348406328 | PROC | c.1223C>G (p.Ala408Gly) c.547C>G c.1325C>G (p.Ala442Gly) c.1406C>G (p.Ala469Gly) c.1388C>G (p.Ala463Gly) c.1286C>G (p.Ala429Gly) n.1332-519G>C c.1466C>G (p.Ala489Gly) c.1568C>G (p.Ala523Gly) c.1508C>G (p.Ala503Gly) n.3607-519G>C n.4043-519G>C c.1391C>G (p.Ala464Gly) c.1409C>G (p.Ala470Gly) c.1166C>G (p.Ala389Gly) c.1199C>G (p.Ala400Gly) c.1217C>G (p.Ala406Gly) | |
2 | g.127428783C>T | CA348406329 | PROC | c.1223C>T (p.Ala408Val) c.547C>T c.1325C>T (p.Ala442Val) c.1406C>T (p.Ala469Val) c.1388C>T (p.Ala463Val) c.1286C>T (p.Ala429Val) n.1332-519G>A c.1466C>T (p.Ala489Val) c.1568C>T (p.Ala523Val) c.1508C>T (p.Ala503Val) n.3607-519G>A n.4043-519G>A c.1391C>T (p.Ala464Val) c.1409C>T (p.Ala470Val) c.1166C>T (p.Ala389Val) c.1199C>T (p.Ala400Val) c.1217C>T (p.Ala406Val) | dbSNP gnomAD v4 |
2 | g.127428784C>A | CA428872551 | PROC | c.1224C>A (p.Ala408=) c.548C>A c.1326C>A (p.Ala442=) c.1407C>A (p.Ala469=) c.1389C>A (p.Ala463=) c.1287C>A (p.Ala429=) n.1332-520G>T c.1467C>A (p.Ala489=) c.1569C>A (p.Ala523=) c.1509C>A (p.Ala503=) n.3607-520G>T n.4043-520G>T c.1392C>A (p.Ala464=) c.1410C>A (p.Ala470=) c.1167C>A (p.Ala389=) c.1200C>A (p.Ala400=) c.1218C>A (p.Ala406=) | |
2 | g.127428784C>G | CA428872554 | PROC | c.1224C>G (p.Ala408=) c.548C>G c.1326C>G (p.Ala442=) c.1407C>G (p.Ala469=) c.1389C>G (p.Ala463=) c.1287C>G (p.Ala429=) n.1332-520G>C c.1467C>G (p.Ala489=) c.1569C>G (p.Ala523=) c.1509C>G (p.Ala503=) n.3607-520G>C n.4043-520G>C c.1392C>G (p.Ala464=) c.1410C>G (p.Ala470=) c.1167C>G (p.Ala389=) c.1200C>G (p.Ala400=) c.1218C>G (p.Ala406=) | |
2 | g.127428784C>T | CA428872556 | PROC | c.1224C>T (p.Ala408=) c.548C>T c.1326C>T (p.Ala442=) c.1407C>T (p.Ala469=) c.1389C>T (p.Ala463=) c.1287C>T (p.Ala429=) n.1332-520G>A c.1467C>T (p.Ala489=) c.1569C>T (p.Ala523=) c.1509C>T (p.Ala503=) n.3607-520G>A n.4043-520G>A c.1392C>T (p.Ala464=) c.1410C>T (p.Ala470=) c.1167C>T (p.Ala389=) c.1200C>T (p.Ala400=) c.1218C>T (p.Ala406=) | |
2 | g.127428785T>A | CA348406331 | PROC | c.1225T>A (p.Ser409Thr) c.549T>A c.1327T>A (p.Ser443Thr) c.1408T>A (p.Ser470Thr) c.1390T>A (p.Ser464Thr) c.1288T>A (p.Ser430Thr) n.1332-521A>T c.1468T>A (p.Ser490Thr) c.1570T>A (p.Ser524Thr) c.1510T>A (p.Ser504Thr) n.3607-521A>T n.4043-521A>T c.1393T>A (p.Ser465Thr) c.1411T>A (p.Ser471Thr) c.1168T>A (p.Ser390Thr) c.1201T>A (p.Ser401Thr) c.1219T>A (p.Ser407Thr) | |
2 | g.127428785T>C | CA348406334 | PROC | c.1225T>C (p.Ser409Pro) c.549T>C c.1327T>C (p.Ser443Pro) c.1408T>C (p.Ser470Pro) c.1390T>C (p.Ser464Pro) c.1288T>C (p.Ser430Pro) n.1332-521A>G c.1468T>C (p.Ser490Pro) c.1570T>C (p.Ser524Pro) c.1510T>C (p.Ser504Pro) n.3607-521A>G n.4043-521A>G c.1393T>C (p.Ser465Pro) c.1411T>C (p.Ser471Pro) c.1168T>C (p.Ser390Pro) c.1201T>C (p.Ser401Pro) c.1219T>C (p.Ser407Pro) | |
2 | g.127428785T>G | CA348406335 | PROC | c.1225T>G (p.Ser409Ala) c.549T>G c.1327T>G (p.Ser443Ala) c.1408T>G (p.Ser470Ala) c.1390T>G (p.Ser464Ala) c.1288T>G (p.Ser430Ala) n.1332-521A>C c.1468T>G (p.Ser490Ala) c.1570T>G (p.Ser524Ala) c.1510T>G (p.Ser504Ala) n.3607-521A>C n.4043-521A>C c.1393T>G (p.Ser465Ala) c.1411T>G (p.Ser471Ala) c.1168T>G (p.Ser390Ala) c.1201T>G (p.Ser401Ala) c.1219T>G (p.Ser407Ala) | |
2 | g.127428786C>A | CA348406337 | PROC | c.1226C>A (p.Ser409Tyr) c.550C>A c.1328C>A (p.Ser443Tyr) c.1409C>A (p.Ser470Tyr) c.1391C>A (p.Ser464Tyr) c.1289C>A (p.Ser430Tyr) n.1332-522G>T c.1469C>A (p.Ser490Tyr) c.1571C>A (p.Ser524Tyr) c.1511C>A (p.Ser504Tyr) n.3607-522G>T n.4043-522G>T c.1394C>A (p.Ser465Tyr) c.1412C>A (p.Ser471Tyr) c.1169C>A (p.Ser390Tyr) c.1202C>A (p.Ser401Tyr) c.1220C>A (p.Ser407Tyr) | gnomAD v4 |
2 | g.127428786C= | CA1286884650 | PROC | c.1226C= (p.Ser409=) c.550C= c.1328C= (p.Ser443=) c.1409C= (p.Ser470=) c.1391C= (p.Ser464=) c.1289C= (p.Ser430=) n.1332-522G= c.1469C= (p.Ser490=) c.1571C= (p.Ser524=) c.1511C= (p.Ser504=) n.3607-522G= n.4043-522G= c.1394C= (p.Ser465=) c.1412C= (p.Ser471=) c.1169C= (p.Ser390=) c.1202C= (p.Ser401=) c.1220C= (p.Ser407=) | |
2 | g.127428786C>G | CA348406339 | PROC | c.1226C>G (p.Ser409Cys) c.550C>G c.1328C>G (p.Ser443Cys) c.1409C>G (p.Ser470Cys) c.1391C>G (p.Ser464Cys) c.1289C>G (p.Ser430Cys) n.1332-522G>C c.1469C>G (p.Ser490Cys) c.1571C>G (p.Ser524Cys) c.1511C>G (p.Ser504Cys) n.3607-522G>C n.4043-522G>C c.1394C>G (p.Ser465Cys) c.1412C>G (p.Ser471Cys) c.1169C>G (p.Ser390Cys) c.1202C>G (p.Ser401Cys) c.1220C>G (p.Ser407Cys) | |
2 | g.127428786C>T | CA348406340 | PROC | c.1226C>T (p.Ser409Phe) c.550C>T c.1328C>T (p.Ser443Phe) c.1409C>T (p.Ser470Phe) c.1391C>T (p.Ser464Phe) c.1289C>T (p.Ser430Phe) n.1332-522G>A c.1469C>T (p.Ser490Phe) c.1571C>T (p.Ser524Phe) c.1511C>T (p.Ser504Phe) n.3607-522G>A n.4043-522G>A c.1394C>T (p.Ser465Phe) c.1412C>T (p.Ser471Phe) c.1169C>T (p.Ser390Phe) c.1202C>T (p.Ser401Phe) c.1220C>T (p.Ser407Phe) | dbSNP gnomAD v4 |
2 | g.127428787C>A | CA428872574 | PROC | c.1227C>A (p.Ser409=) c.551C>A c.1329C>A (p.Ser443=) c.1410C>A (p.Ser470=) c.1392C>A (p.Ser464=) c.1290C>A (p.Ser430=) n.1332-523G>T c.1470C>A (p.Ser490=) c.1572C>A (p.Ser524=) c.1512C>A (p.Ser504=) n.3607-523G>T n.4043-523G>T c.1395C>A (p.Ser465=) c.1413C>A (p.Ser471=) c.1170C>A (p.Ser390=) c.1203C>A (p.Ser401=) c.1221C>A (p.Ser407=) | |
2 | g.127428787C>G | CA428872580 | PROC | c.1227C>G (p.Ser409=) c.551C>G c.1329C>G (p.Ser443=) c.1410C>G (p.Ser470=) c.1392C>G (p.Ser464=) c.1290C>G (p.Ser430=) n.1332-523G>C c.1470C>G (p.Ser490=) c.1572C>G (p.Ser524=) c.1512C>G (p.Ser504=) n.3607-523G>C n.4043-523G>C c.1395C>G (p.Ser465=) c.1413C>G (p.Ser471=) c.1170C>G (p.Ser390=) c.1203C>G (p.Ser401=) c.1221C>G (p.Ser407=) | gnomAD v4 |
2 | g.127428787C>T | CA428872577 | PROC | c.1227C>T (p.Ser409=) c.551C>T c.1329C>T (p.Ser443=) c.1410C>T (p.Ser470=) c.1392C>T (p.Ser464=) c.1290C>T (p.Ser430=) n.1332-523G>A c.1470C>T (p.Ser490=) c.1572C>T (p.Ser524=) c.1512C>T (p.Ser504=) n.3607-523G>A n.4043-523G>A c.1395C>T (p.Ser465=) c.1413C>T (p.Ser471=) c.1170C>T (p.Ser390=) c.1203C>T (p.Ser401=) c.1221C>T (p.Ser407=) | |
2 | g.127428788T>A | CA348406343 | PROC | c.1228T>A (p.Phe410Ile) c.552T>A c.1330T>A (p.Phe444Ile) c.1411T>A (p.Phe471Ile) c.1393T>A (p.Phe465Ile) c.1291T>A (p.Phe431Ile) n.1332-524A>T c.1471T>A (p.Phe491Ile) c.1573T>A (p.Phe525Ile) c.1513T>A (p.Phe505Ile) n.3607-524A>T n.4043-524A>T c.1396T>A (p.Phe466Ile) c.1414T>A (p.Phe472Ile) c.1171T>A (p.Phe391Ile) c.1204T>A (p.Phe402Ile) c.1222T>A (p.Phe408Ile) | |
2 | g.127428788T>C | CA348406345 | PROC | c.1228T>C (p.Phe410Leu) c.552T>C c.1330T>C (p.Phe444Leu) c.1411T>C (p.Phe471Leu) c.1393T>C (p.Phe465Leu) c.1291T>C (p.Phe431Leu) n.1332-524A>G c.1471T>C (p.Phe491Leu) c.1573T>C (p.Phe525Leu) c.1513T>C (p.Phe505Leu) n.3607-524A>G n.4043-524A>G c.1396T>C (p.Phe466Leu) c.1414T>C (p.Phe472Leu) c.1171T>C (p.Phe391Leu) c.1204T>C (p.Phe402Leu) c.1222T>C (p.Phe408Leu) | |
2 | g.127428788T>G | CA348406342 | PROC | c.1228T>G (p.Phe410Val) c.552T>G c.1330T>G (p.Phe444Val) c.1411T>G (p.Phe471Val) c.1393T>G (p.Phe465Val) c.1291T>G (p.Phe431Val) n.1332-524A>C c.1471T>G (p.Phe491Val) c.1573T>G (p.Phe525Val) c.1513T>G (p.Phe505Val) n.3607-524A>C n.4043-524A>C c.1396T>G (p.Phe466Val) c.1414T>G (p.Phe472Val) c.1171T>G (p.Phe391Val) c.1204T>G (p.Phe402Val) c.1222T>G (p.Phe408Val) | |
2 | g.127428789T>A | CA348406346 | PROC | c.1229T>A (p.Phe410Tyr) c.553T>A c.1331T>A (p.Phe444Tyr) c.1412T>A (p.Phe471Tyr) c.1394T>A (p.Phe465Tyr) c.1292T>A (p.Phe431Tyr) n.1332-525A>T c.1472T>A (p.Phe491Tyr) c.1574T>A (p.Phe525Tyr) c.1514T>A (p.Phe505Tyr) n.3607-525A>T n.4043-525A>T c.1397T>A (p.Phe466Tyr) c.1415T>A (p.Phe472Tyr) c.1172T>A (p.Phe391Tyr) c.1205T>A (p.Phe402Tyr) c.1223T>A (p.Phe408Tyr) | |
2 | g.127428789T>C | CA348406348 | PROC | c.1229T>C (p.Phe410Ser) c.553T>C c.1331T>C (p.Phe444Ser) c.1412T>C (p.Phe471Ser) c.1394T>C (p.Phe465Ser) c.1292T>C (p.Phe431Ser) n.1332-525A>G c.1472T>C (p.Phe491Ser) c.1574T>C (p.Phe525Ser) c.1514T>C (p.Phe505Ser) n.3607-525A>G n.4043-525A>G c.1397T>C (p.Phe466Ser) c.1415T>C (p.Phe472Ser) c.1172T>C (p.Phe391Ser) c.1205T>C (p.Phe402Ser) c.1223T>C (p.Phe408Ser) | dbSNP |
2 | g.127428789T>G | CA348406349 | PROC | c.1229T>G (p.Phe410Cys) c.553T>G c.1331T>G (p.Phe444Cys) c.1412T>G (p.Phe471Cys) c.1394T>G (p.Phe465Cys) c.1292T>G (p.Phe431Cys) n.1332-525A>C c.1472T>G (p.Phe491Cys) c.1574T>G (p.Phe525Cys) c.1514T>G (p.Phe505Cys) n.3607-525A>C n.4043-525A>C c.1397T>G (p.Phe466Cys) c.1415T>G (p.Phe472Cys) c.1172T>G (p.Phe391Cys) c.1205T>G (p.Phe402Cys) c.1223T>G (p.Phe408Cys) | |
2 | g.127428789T= | CA1286884651 | PROC | c.1229T= (p.Phe410=) c.553T= c.1331T= (p.Phe444=) c.1412T= (p.Phe471=) c.1394T= (p.Phe465=) c.1292T= (p.Phe431=) n.1332-525A= c.1472T= (p.Phe491=) c.1574T= (p.Phe525=) c.1514T= (p.Phe505=) n.3607-525A= n.4043-525A= c.1397T= (p.Phe466=) c.1415T= (p.Phe472=) c.1172T= (p.Phe391=) c.1205T= (p.Phe402=) c.1223T= (p.Phe408=) | |
2 | g.127428790C>A | CA348406353 | PROC | c.1230C>A (p.Phe410Leu) c.554C>A c.1332C>A (p.Phe444Leu) c.1413C>A (p.Phe471Leu) c.1395C>A (p.Phe465Leu) c.1293C>A (p.Phe431Leu) n.1332-526G>T c.1473C>A (p.Phe491Leu) c.1575C>A (p.Phe525Leu) c.1515C>A (p.Phe505Leu) n.3607-526G>T n.4043-526G>T c.1398C>A (p.Phe466Leu) c.1416C>A (p.Phe472Leu) c.1173C>A (p.Phe391Leu) c.1206C>A (p.Phe402Leu) c.1224C>A (p.Phe408Leu) | |
2 | g.127428790C= | CA1286884652 | PROC | c.1230C= (p.Phe410=) c.554C= c.1332C= (p.Phe444=) c.1413C= (p.Phe471=) c.1395C= (p.Phe465=) c.1293C= (p.Phe431=) n.1332-526G= c.1473C= (p.Phe491=) c.1575C= (p.Phe525=) c.1515C= (p.Phe505=) n.3607-526G= n.4043-526G= c.1398C= (p.Phe466=) c.1416C= (p.Phe472=) c.1173C= (p.Phe391=) c.1206C= (p.Phe402=) c.1224C= (p.Phe408=) | |
2 | g.127428790C>G | CA348406354 | PROC | c.1230C>G (p.Phe410Leu) c.554C>G c.1332C>G (p.Phe444Leu) c.1413C>G (p.Phe471Leu) c.1395C>G (p.Phe465Leu) c.1293C>G (p.Phe431Leu) n.1332-526G>C c.1473C>G (p.Phe491Leu) c.1575C>G (p.Phe525Leu) c.1515C>G (p.Phe505Leu) n.3607-526G>C n.4043-526G>C c.1398C>G (p.Phe466Leu) c.1416C>G (p.Phe472Leu) c.1173C>G (p.Phe391Leu) c.1206C>G (p.Phe402Leu) c.1224C>G (p.Phe408Leu) | |
2 | g.127428790C>T | CA428872601 | PROC | c.1230C>T (p.Phe410=) c.554C>T c.1332C>T (p.Phe444=) c.1413C>T (p.Phe471=) c.1395C>T (p.Phe465=) c.1293C>T (p.Phe431=) n.1332-526G>A c.1473C>T (p.Phe491=) c.1575C>T (p.Phe525=) c.1515C>T (p.Phe505=) n.3607-526G>A n.4043-526G>A c.1398C>T (p.Phe466=) c.1416C>T (p.Phe472=) c.1173C>T (p.Phe391=) c.1206C>T (p.Phe402=) c.1224C>T (p.Phe408=) | ClinVar dbSNP |
2 | g.127428791C>A | CA348406359 | PROC | c.1231C>A (p.His411Asn) c.555C>A c.1333C>A (p.His445Asn) c.1414C>A (p.His472Asn) c.1396C>A (p.His466Asn) c.1294C>A (p.His432Asn) n.1332-527G>T c.1474C>A (p.His492Asn) c.1576C>A (p.His526Asn) c.1516C>A (p.His506Asn) n.3607-527G>T n.4043-527G>T c.1399C>A (p.His467Asn) c.1417C>A (p.His473Asn) c.1174C>A (p.His392Asn) c.1207C>A (p.His403Asn) c.1225C>A (p.His409Asn) | |
2 | g.127428791C= | CA1286884653 | PROC | c.1231C= (p.His411=) c.555C= c.1333C= (p.His445=) c.1414C= (p.His472=) c.1396C= (p.His466=) c.1294C= (p.His432=) n.1332-527G= c.1474C= (p.His492=) c.1576C= (p.His526=) c.1516C= (p.His506=) n.3607-527G= n.4043-527G= c.1399C= (p.His467=) c.1417C= (p.His473=) c.1174C= (p.His392=) c.1207C= (p.His403=) c.1225C= (p.His409=) | |
2 | g.127428791C>G | CA348406357 | PROC | c.1231C>G (p.His411Asp) c.555C>G c.1333C>G (p.His445Asp) c.1414C>G (p.His472Asp) c.1396C>G (p.His466Asp) c.1294C>G (p.His432Asp) n.1332-527G>C c.1474C>G (p.His492Asp) c.1576C>G (p.His526Asp) c.1516C>G (p.His506Asp) n.3607-527G>C n.4043-527G>C c.1399C>G (p.His467Asp) c.1417C>G (p.His473Asp) c.1174C>G (p.His392Asp) c.1207C>G (p.His403Asp) c.1225C>G (p.His409Asp) | |
2 | g.127428791C>T | CA348406356 | PROC | c.1231C>T (p.His411Tyr) c.555C>T c.1333C>T (p.His445Tyr) c.1414C>T (p.His472Tyr) c.1396C>T (p.His466Tyr) c.1294C>T (p.His432Tyr) n.1332-527G>A c.1474C>T (p.His492Tyr) c.1576C>T (p.His526Tyr) c.1516C>T (p.His506Tyr) n.3607-527G>A n.4043-527G>A c.1399C>T (p.His467Tyr) c.1417C>T (p.His473Tyr) c.1174C>T (p.His392Tyr) c.1207C>T (p.His403Tyr) c.1225C>T (p.His409Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428792A= | CA1286884654 | PROC | c.1232A= (p.His411=) c.556A= c.1334A= (p.His445=) c.1415A= (p.His472=) c.1397A= (p.His466=) c.1295A= (p.His432=) n.1332-528T= c.1475A= (p.His492=) c.1577A= (p.His526=) c.1517A= (p.His506=) n.3607-528T= n.4043-528T= c.1400A= (p.His467=) c.1418A= (p.His473=) c.1175A= (p.His392=) c.1208A= (p.His403=) c.1226A= (p.His409=) | |
2 | g.127428792A>C | CA348406362 | PROC | c.1232A>C (p.His411Pro) c.556A>C c.1334A>C (p.His445Pro) c.1415A>C (p.His472Pro) c.1397A>C (p.His466Pro) c.1295A>C (p.His432Pro) n.1332-528T>G c.1475A>C (p.His492Pro) c.1577A>C (p.His526Pro) c.1517A>C (p.His506Pro) n.3607-528T>G n.4043-528T>G c.1400A>C (p.His467Pro) c.1418A>C (p.His473Pro) c.1175A>C (p.His392Pro) c.1208A>C (p.His403Pro) c.1226A>C (p.His409Pro) | |
2 | g.127428792A>G | CA348406364 | PROC | c.1232A>G (p.His411Arg) c.556A>G c.1334A>G (p.His445Arg) c.1415A>G (p.His472Arg) c.1397A>G (p.His466Arg) c.1295A>G (p.His432Arg) n.1332-528T>C c.1475A>G (p.His492Arg) c.1577A>G (p.His526Arg) c.1517A>G (p.His506Arg) n.3607-528T>C n.4043-528T>C c.1400A>G (p.His467Arg) c.1418A>G (p.His473Arg) c.1175A>G (p.His392Arg) c.1208A>G (p.His403Arg) c.1226A>G (p.His409Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428792A>T | CA348406365 | PROC | c.1232A>T (p.His411Leu) c.556A>T c.1334A>T (p.His445Leu) c.1415A>T (p.His472Leu) c.1397A>T (p.His466Leu) c.1295A>T (p.His432Leu) n.1332-528T>A c.1475A>T (p.His492Leu) c.1577A>T (p.His526Leu) c.1517A>T (p.His506Leu) n.3607-528T>A n.4043-528T>A c.1400A>T (p.His467Leu) c.1418A>T (p.His473Leu) c.1175A>T (p.His392Leu) c.1208A>T (p.His403Leu) c.1226A>T (p.His409Leu) | |
2 | g.127428793C>A | CA348406367 | PROC | c.1233C>A (p.His411Gln) c.557C>A c.1335C>A (p.His445Gln) c.1416C>A (p.His472Gln) c.1398C>A (p.His466Gln) c.1296C>A (p.His432Gln) n.1332-529G>T c.1476C>A (p.His492Gln) c.1578C>A (p.His526Gln) c.1518C>A (p.His506Gln) n.3607-529G>T n.4043-529G>T c.1401C>A (p.His467Gln) c.1419C>A (p.His473Gln) c.1176C>A (p.His392Gln) c.1209C>A (p.His403Gln) c.1227C>A (p.His409Gln) | |
2 | g.127428793C= | CA1286884655 | PROC | c.1233C= (p.His411=) c.557C= c.1335C= (p.His445=) c.1416C= (p.His472=) c.1398C= (p.His466=) c.1296C= (p.His432=) n.1332-529G= c.1476C= (p.His492=) c.1578C= (p.His526=) c.1518C= (p.His506=) n.3607-529G= n.4043-529G= c.1401C= (p.His467=) c.1419C= (p.His473=) c.1176C= (p.His392=) c.1209C= (p.His403=) c.1227C= (p.His409=) | |
2 | g.127428793C>G | CA348406368 | PROC | c.1233C>G (p.His411Gln) c.557C>G c.1335C>G (p.His445Gln) c.1416C>G (p.His472Gln) c.1398C>G (p.His466Gln) c.1296C>G (p.His432Gln) n.1332-529G>C c.1476C>G (p.His492Gln) c.1578C>G (p.His526Gln) c.1518C>G (p.His506Gln) n.3607-529G>C n.4043-529G>C c.1401C>G (p.His467Gln) c.1419C>G (p.His473Gln) c.1176C>G (p.His392Gln) c.1209C>G (p.His403Gln) c.1227C>G (p.His409Gln) | dbSNP |
2 | g.127428793C>T | CA1859551 | PROC | c.1233C>T (p.His411=) c.557C>T c.1335C>T (p.His445=) c.1416C>T (p.His472=) c.1398C>T (p.His466=) c.1296C>T (p.His432=) n.1332-529G>A c.1476C>T (p.His492=) c.1578C>T (p.His526=) c.1518C>T (p.His506=) n.3607-529G>A n.4043-529G>A c.1401C>T (p.His467=) c.1419C>T (p.His473=) c.1176C>T (p.His392=) c.1209C>T (p.His403=) c.1227C>T (p.His409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428794G>A | CA211715 | PROC | c.1234G>A (p.Gly412Ser) c.558G>A c.1336G>A (p.Gly446Ser) c.1417G>A (p.Gly473Ser) c.1399G>A (p.Gly467Ser) c.1297G>A (p.Gly433Ser) n.1332-530C>T c.1477G>A (p.Gly493Ser) c.1579G>A (p.Gly527Ser) c.1519G>A (p.Gly507Ser) n.3607-530C>T n.4043-530C>T c.1402G>A (p.Gly468Ser) c.1420G>A (p.Gly474Ser) c.1177G>A (p.Gly393Ser) c.1210G>A (p.Gly404Ser) c.1228G>A (p.Gly410Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428794G>C | CA348406374 | PROC | c.1234G>C (p.Gly412Arg) c.558G>C c.1336G>C (p.Gly446Arg) c.1417G>C (p.Gly473Arg) c.1399G>C (p.Gly467Arg) c.1297G>C (p.Gly433Arg) n.1332-530C>G c.1477G>C (p.Gly493Arg) c.1579G>C (p.Gly527Arg) c.1519G>C (p.Gly507Arg) n.3607-530C>G n.4043-530C>G c.1402G>C (p.Gly468Arg) c.1420G>C (p.Gly474Arg) c.1177G>C (p.Gly393Arg) c.1210G>C (p.Gly404Arg) c.1228G>C (p.Gly410Arg) | |
2 | g.127428794G= | CA1286884656 | PROC | c.1234G= (p.Gly412=) c.558G= c.1336G= (p.Gly446=) c.1417G= (p.Gly473=) c.1399G= (p.Gly467=) c.1297G= (p.Gly433=) n.1332-530C= c.1477G= (p.Gly493=) c.1579G= (p.Gly527=) c.1519G= (p.Gly507=) n.3607-530C= n.4043-530C= c.1402G= (p.Gly468=) c.1420G= (p.Gly474=) c.1177G= (p.Gly393=) c.1210G= (p.Gly404=) c.1228G= (p.Gly410=) | |
2 | g.127428794G>T | CA348406372 | PROC | c.1234G>T (p.Gly412Cys) c.558G>T c.1336G>T (p.Gly446Cys) c.1417G>T (p.Gly473Cys) c.1399G>T (p.Gly467Cys) c.1297G>T (p.Gly433Cys) n.1332-530C>A c.1477G>T (p.Gly493Cys) c.1579G>T (p.Gly527Cys) c.1519G>T (p.Gly507Cys) n.3607-530C>A n.4043-530C>A c.1402G>T (p.Gly468Cys) c.1420G>T (p.Gly474Cys) c.1177G>T (p.Gly393Cys) c.1210G>T (p.Gly404Cys) c.1228G>T (p.Gly410Cys) | |
2 | g.127428795G>A | CA348406377 | PROC | c.1235G>A (p.Gly412Asp) c.559G>A c.1337G>A (p.Gly446Asp) c.1418G>A (p.Gly473Asp) c.1400G>A (p.Gly467Asp) c.1298G>A (p.Gly433Asp) n.1332-531C>T c.1478G>A (p.Gly493Asp) c.1580G>A (p.Gly527Asp) c.1520G>A (p.Gly507Asp) n.3607-531C>T n.4043-531C>T c.1403G>A (p.Gly468Asp) c.1421G>A (p.Gly474Asp) c.1178G>A (p.Gly393Asp) c.1211G>A (p.Gly404Asp) c.1229G>A (p.Gly410Asp) | COSMIC |
2 | g.127428795G>C | CA348406378 | PROC | c.1235G>C (p.Gly412Ala) c.559G>C c.1337G>C (p.Gly446Ala) c.1418G>C (p.Gly473Ala) c.1400G>C (p.Gly467Ala) c.1298G>C (p.Gly433Ala) n.1332-531C>G c.1478G>C (p.Gly493Ala) c.1580G>C (p.Gly527Ala) c.1520G>C (p.Gly507Ala) n.3607-531C>G n.4043-531C>G c.1403G>C (p.Gly468Ala) c.1421G>C (p.Gly474Ala) c.1178G>C (p.Gly393Ala) c.1211G>C (p.Gly404Ala) c.1229G>C (p.Gly410Ala) | |
2 | g.127428795G>T | CA348406380 | PROC | c.1235G>T (p.Gly412Val) c.559G>T c.1337G>T (p.Gly446Val) c.1418G>T (p.Gly473Val) c.1400G>T (p.Gly467Val) c.1298G>T (p.Gly433Val) n.1332-531C>A c.1478G>T (p.Gly493Val) c.1580G>T (p.Gly527Val) c.1520G>T (p.Gly507Val) n.3607-531C>A n.4043-531C>A c.1403G>T (p.Gly468Val) c.1421G>T (p.Gly474Val) c.1178G>T (p.Gly393Val) c.1211G>T (p.Gly404Val) c.1229G>T (p.Gly410Val) | |
2 | g.127428796C>A | CA428872640 | PROC | c.1236C>A (p.Gly412=) c.560C>A c.1338C>A (p.Gly446=) c.1419C>A (p.Gly473=) c.1401C>A (p.Gly467=) c.1299C>A (p.Gly433=) n.1332-532G>T c.1479C>A (p.Gly493=) c.1581C>A (p.Gly527=) c.1521C>A (p.Gly507=) n.3607-532G>T n.4043-532G>T c.1404C>A (p.Gly468=) c.1422C>A (p.Gly474=) c.1179C>A (p.Gly393=) c.1212C>A (p.Gly404=) c.1230C>A (p.Gly410=) | |
2 | g.127428796C= | CA1286884657 | PROC | c.1236C= (p.Gly412=) c.560C= c.1338C= (p.Gly446=) c.1419C= (p.Gly473=) c.1401C= (p.Gly467=) c.1299C= (p.Gly433=) n.1332-532G= c.1479C= (p.Gly493=) c.1581C= (p.Gly527=) c.1521C= (p.Gly507=) n.3607-532G= n.4043-532G= c.1404C= (p.Gly468=) c.1422C= (p.Gly474=) c.1179C= (p.Gly393=) c.1212C= (p.Gly404=) c.1230C= (p.Gly410=) | |
2 | g.127428796C>G | CA428872642 | PROC | c.1236C>G (p.Gly412=) c.560C>G c.1338C>G (p.Gly446=) c.1419C>G (p.Gly473=) c.1401C>G (p.Gly467=) c.1299C>G (p.Gly433=) n.1332-532G>C c.1479C>G (p.Gly493=) c.1581C>G (p.Gly527=) c.1521C>G (p.Gly507=) n.3607-532G>C n.4043-532G>C c.1404C>G (p.Gly468=) c.1422C>G (p.Gly474=) c.1179C>G (p.Gly393=) c.1212C>G (p.Gly404=) c.1230C>G (p.Gly410=) | |
2 | g.127428796C>T | CA428872645 | PROC | c.1236C>T (p.Gly412=) c.560C>T c.1338C>T (p.Gly446=) c.1419C>T (p.Gly473=) c.1401C>T (p.Gly467=) c.1299C>T (p.Gly433=) n.1332-532G>A c.1479C>T (p.Gly493=) c.1581C>T (p.Gly527=) c.1521C>T (p.Gly507=) n.3607-532G>A n.4043-532G>A c.1404C>T (p.Gly468=) c.1422C>T (p.Gly474=) c.1179C>T (p.Gly393=) c.1212C>T (p.Gly404=) c.1230C>T (p.Gly410=) | dbSNP |
2 | g.127428797A= | CA1286884658 | PROC | c.1237A= (p.Thr413=) c.561A= c.1339A= (p.Thr447=) c.1420A= (p.Thr474=) c.1402A= (p.Thr468=) c.1300A= (p.Thr434=) n.1332-533T= c.1480A= (p.Thr494=) c.1582A= (p.Thr528=) c.1522A= (p.Thr508=) n.3607-533T= n.4043-533T= c.1405A= (p.Thr469=) c.1423A= (p.Thr475=) c.1180A= (p.Thr394=) c.1213A= (p.Thr405=) c.1231A= (p.Thr411=) | |
2 | g.127428797A>C | CA348406382 | PROC | c.1237A>C (p.Thr413Pro) c.561A>C c.1339A>C (p.Thr447Pro) c.1420A>C (p.Thr474Pro) c.1402A>C (p.Thr468Pro) c.1300A>C (p.Thr434Pro) n.1332-533T>G c.1480A>C (p.Thr494Pro) c.1582A>C (p.Thr528Pro) c.1522A>C (p.Thr508Pro) n.3607-533T>G n.4043-533T>G c.1405A>C (p.Thr469Pro) c.1423A>C (p.Thr475Pro) c.1180A>C (p.Thr394Pro) c.1213A>C (p.Thr405Pro) c.1231A>C (p.Thr411Pro) | |
2 | g.127428797A>G | CA1859552 | PROC | c.1237A>G (p.Thr413Ala) c.561A>G c.1339A>G (p.Thr447Ala) c.1420A>G (p.Thr474Ala) c.1402A>G (p.Thr468Ala) c.1300A>G (p.Thr434Ala) n.1332-533T>C c.1480A>G (p.Thr494Ala) c.1582A>G (p.Thr528Ala) c.1522A>G (p.Thr508Ala) n.3607-533T>C n.4043-533T>C c.1405A>G (p.Thr469Ala) c.1423A>G (p.Thr475Ala) c.1180A>G (p.Thr394Ala) c.1213A>G (p.Thr405Ala) c.1231A>G (p.Thr411Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428797A>T | CA348406385 | PROC | c.1237A>T (p.Thr413Ser) c.561A>T c.1339A>T (p.Thr447Ser) c.1420A>T (p.Thr474Ser) c.1402A>T (p.Thr468Ser) c.1300A>T (p.Thr434Ser) n.1332-533T>A c.1480A>T (p.Thr494Ser) c.1582A>T (p.Thr528Ser) c.1522A>T (p.Thr508Ser) n.3607-533T>A n.4043-533T>A c.1405A>T (p.Thr469Ser) c.1423A>T (p.Thr475Ser) c.1180A>T (p.Thr394Ser) c.1213A>T (p.Thr405Ser) c.1231A>T (p.Thr411Ser) | |
2 | g.127428797_127428798insTCATTATGGGCTACTCGCGGCAGATCTACTC | CA914468618 | PROC | c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr413IlefsTer22) c.561_562insTCATTATGGGCTACTCGCGGCAGATCTACTC c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr447IlefsTer22) c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr474IlefsTer22) c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr468IlefsTer22) c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr434IlefsTer22) n.1332-534_1332-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA c.1480_1481insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr494IlefsTer22) c.1582_1583insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr528IlefsTer22) c.1522_1523insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr508IlefsTer22) n.3607-534_3607-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA n.4043-534_4043-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA c.1405_1406insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr469IlefsTer22) c.1423_1424insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr475IlefsTer22) c.1180_1181insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr394IlefsTer22) c.1213_1214insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr405IlefsTer22) c.1231_1232insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr411IlefsTer22) | gnomAD v2 |
2 | g.127428798C>A | CA348406386 | PROC | c.1238C>A (p.Thr413Asn) c.562C>A c.1340C>A (p.Thr447Asn) c.1421C>A (p.Thr474Asn) c.1403C>A (p.Thr468Asn) c.1301C>A (p.Thr434Asn) n.1332-534G>T c.1481C>A (p.Thr494Asn) c.1583C>A (p.Thr528Asn) c.1523C>A (p.Thr508Asn) n.3607-534G>T n.4043-534G>T c.1406C>A (p.Thr469Asn) c.1424C>A (p.Thr475Asn) c.1181C>A (p.Thr394Asn) c.1214C>A (p.Thr405Asn) c.1232C>A (p.Thr411Asn) | |
2 | g.127428798C>G | CA348406389 | PROC | c.1238C>G (p.Thr413Ser) c.562C>G c.1340C>G (p.Thr447Ser) c.1421C>G (p.Thr474Ser) c.1403C>G (p.Thr468Ser) c.1301C>G (p.Thr434Ser) n.1332-534G>C c.1481C>G (p.Thr494Ser) c.1583C>G (p.Thr528Ser) c.1523C>G (p.Thr508Ser) n.3607-534G>C n.4043-534G>C c.1406C>G (p.Thr469Ser) c.1424C>G (p.Thr475Ser) c.1181C>G (p.Thr394Ser) c.1214C>G (p.Thr405Ser) c.1232C>G (p.Thr411Ser) | |
2 | g.127428798C>T | CA348406397 | PROC | c.1238C>T (p.Thr413Ile) c.562C>T c.1340C>T (p.Thr447Ile) c.1421C>T (p.Thr474Ile) c.1403C>T (p.Thr468Ile) c.1301C>T (p.Thr434Ile) n.1332-534G>A c.1481C>T (p.Thr494Ile) c.1583C>T (p.Thr528Ile) c.1523C>T (p.Thr508Ile) n.3607-534G>A n.4043-534G>A c.1406C>T (p.Thr469Ile) c.1424C>T (p.Thr475Ile) c.1181C>T (p.Thr394Ile) c.1214C>T (p.Thr405Ile) c.1232C>T (p.Thr411Ile) | |
2 | g.127428798_127428801dup | CA2577090358 | PROC | c.1238_1241dup (p.Trp414CysfsTer12) c.562_565dup c.1340_1343dup (p.Trp448CysfsTer12) c.1421_1424dup (p.Trp475CysfsTer12) c.1403_1406dup (p.Trp469CysfsTer12) c.1301_1304dup (p.Trp435CysfsTer12) n.1332-537_1332-534dup c.1481_1484dup (p.Trp495CysfsTer12) c.1583_1586dup (p.Trp529CysfsTer12) c.1523_1526dup (p.Trp509CysfsTer12) n.3607-537_3607-534dup n.4043-537_4043-534dup c.1406_1409dup (p.Trp470CysfsTer12) c.1424_1427dup (p.Trp476CysfsTer12) c.1181_1184dup (p.Trp395CysfsTer12) c.1214_1217dup (p.Trp406CysfsTer12) c.1232_1235dup (p.Trp412CysfsTer12) | |
2 | g.127428799C>A | CA428872663 | PROC | c.1239C>A (p.Thr413=) c.563C>A c.1341C>A (p.Thr447=) c.1422C>A (p.Thr474=) c.1404C>A (p.Thr468=) c.1302C>A (p.Thr434=) n.1332-535G>T c.1482C>A (p.Thr494=) c.1584C>A (p.Thr528=) c.1524C>A (p.Thr508=) n.3607-535G>T n.4043-535G>T c.1407C>A (p.Thr469=) c.1425C>A (p.Thr475=) c.1182C>A (p.Thr394=) c.1215C>A (p.Thr405=) c.1233C>A (p.Thr411=) | |
2 | g.127428799C>G | CA428872666 | PROC | c.1239C>G (p.Thr413=) c.563C>G c.1341C>G (p.Thr447=) c.1422C>G (p.Thr474=) c.1404C>G (p.Thr468=) c.1302C>G (p.Thr434=) n.1332-535G>C c.1482C>G (p.Thr494=) c.1584C>G (p.Thr528=) c.1524C>G (p.Thr508=) n.3607-535G>C n.4043-535G>C c.1407C>G (p.Thr469=) c.1425C>G (p.Thr475=) c.1182C>G (p.Thr394=) c.1215C>G (p.Thr405=) c.1233C>G (p.Thr411=) | |
2 | g.127428799C>T | CA428872667 | PROC | c.1239C>T (p.Thr413=) c.563C>T c.1341C>T (p.Thr447=) c.1422C>T (p.Thr474=) c.1404C>T (p.Thr468=) c.1302C>T (p.Thr434=) n.1332-535G>A c.1482C>T (p.Thr494=) c.1584C>T (p.Thr528=) c.1524C>T (p.Thr508=) n.3607-535G>A n.4043-535G>A c.1407C>T (p.Thr469=) c.1425C>T (p.Thr475=) c.1182C>T (p.Thr394=) c.1215C>T (p.Thr405=) c.1233C>T (p.Thr411=) | |
2 | g.127428800T>A | CA348406399 | PROC | c.1240T>A (p.Trp414Arg) c.564T>A c.1342T>A (p.Trp448Arg) c.1423T>A (p.Trp475Arg) c.1405T>A (p.Trp469Arg) c.1303T>A (p.Trp435Arg) n.1332-536A>T c.1483T>A (p.Trp495Arg) c.1585T>A (p.Trp529Arg) c.1525T>A (p.Trp509Arg) n.3607-536A>T n.4043-536A>T c.1408T>A (p.Trp470Arg) c.1426T>A (p.Trp476Arg) c.1183T>A (p.Trp395Arg) c.1216T>A (p.Trp406Arg) c.1234T>A (p.Trp412Arg) | |
2 | g.127428800T>C | CA348406401 | PROC | c.1240T>C (p.Trp414Arg) c.564T>C c.1342T>C (p.Trp448Arg) c.1423T>C (p.Trp475Arg) c.1405T>C (p.Trp469Arg) c.1303T>C (p.Trp435Arg) n.1332-536A>G c.1483T>C (p.Trp495Arg) c.1585T>C (p.Trp529Arg) c.1525T>C (p.Trp509Arg) n.3607-536A>G n.4043-536A>G c.1408T>C (p.Trp470Arg) c.1426T>C (p.Trp476Arg) c.1183T>C (p.Trp395Arg) c.1216T>C (p.Trp406Arg) c.1234T>C (p.Trp412Arg) | ClinVar gnomAD v4 |
2 | g.127428800T>G | CA348406402 | PROC | c.1240T>G (p.Trp414Gly) c.564T>G c.1342T>G (p.Trp448Gly) c.1423T>G (p.Trp475Gly) c.1405T>G (p.Trp469Gly) c.1303T>G (p.Trp435Gly) n.1332-536A>C c.1483T>G (p.Trp495Gly) c.1585T>G (p.Trp529Gly) c.1525T>G (p.Trp509Gly) n.3607-536A>C n.4043-536A>C c.1408T>G (p.Trp470Gly) c.1426T>G (p.Trp476Gly) c.1183T>G (p.Trp395Gly) c.1216T>G (p.Trp406Gly) c.1234T>G (p.Trp412Gly) | |
2 | g.127428801G>A | CA348406405 | PROC | c.1241G>A (p.Trp414Ter) c.565G>A c.1343G>A (p.Trp448Ter) c.1424G>A (p.Trp475Ter) c.1406G>A (p.Trp469Ter) c.1304G>A (p.Trp435Ter) n.1332-537C>T c.1484G>A (p.Trp495Ter) c.1586G>A (p.Trp529Ter) c.1526G>A (p.Trp509Ter) n.3607-537C>T n.4043-537C>T c.1409G>A (p.Trp470Ter) c.1427G>A (p.Trp476Ter) c.1184G>A (p.Trp395Ter) c.1217G>A (p.Trp406Ter) c.1235G>A (p.Trp412Ter) | |
2 | g.127428801G>C | CA1859553 | PROC | c.1241G>C (p.Trp414Ser) c.565G>C c.1343G>C (p.Trp448Ser) c.1424G>C (p.Trp475Ser) c.1406G>C (p.Trp469Ser) c.1304G>C (p.Trp435Ser) n.1332-537C>G c.1484G>C (p.Trp495Ser) c.1586G>C (p.Trp529Ser) c.1526G>C (p.Trp509Ser) n.3607-537C>G n.4043-537C>G c.1409G>C (p.Trp470Ser) c.1427G>C (p.Trp476Ser) c.1184G>C (p.Trp395Ser) c.1217G>C (p.Trp406Ser) c.1235G>C (p.Trp412Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428801G= | CA1286884659 | PROC | c.1241G= (p.Trp414=) c.565G= c.1343G= (p.Trp448=) c.1424G= (p.Trp475=) c.1406G= (p.Trp469=) c.1304G= (p.Trp435=) n.1332-537C= c.1484G= (p.Trp495=) c.1586G= (p.Trp529=) c.1526G= (p.Trp509=) n.3607-537C= n.4043-537C= c.1409G= (p.Trp470=) c.1427G= (p.Trp476=) c.1184G= (p.Trp395=) c.1217G= (p.Trp406=) c.1235G= (p.Trp412=) | |
2 | g.127428801G>T | CA348406406 | PROC | c.1241G>T (p.Trp414Leu) c.565G>T c.1343G>T (p.Trp448Leu) c.1424G>T (p.Trp475Leu) c.1406G>T (p.Trp469Leu) c.1304G>T (p.Trp435Leu) n.1332-537C>A c.1484G>T (p.Trp495Leu) c.1586G>T (p.Trp529Leu) c.1526G>T (p.Trp509Leu) n.3607-537C>A n.4043-537C>A c.1409G>T (p.Trp470Leu) c.1427G>T (p.Trp476Leu) c.1184G>T (p.Trp395Leu) c.1217G>T (p.Trp406Leu) c.1235G>T (p.Trp412Leu) | |
2 | g.127428802G>A | CA348406409 | PROC | c.1242G>A (p.Trp414Ter) c.566G>A c.1344G>A (p.Trp448Ter) c.1425G>A (p.Trp475Ter) c.1407G>A (p.Trp469Ter) c.1305G>A (p.Trp435Ter) n.1332-538C>T c.1485G>A (p.Trp495Ter) c.1587G>A (p.Trp529Ter) c.1527G>A (p.Trp509Ter) n.3607-538C>T n.4043-538C>T c.1410G>A (p.Trp470Ter) c.1428G>A (p.Trp476Ter) c.1185G>A (p.Trp395Ter) c.1218G>A (p.Trp406Ter) c.1236G>A (p.Trp412Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.127428802G>C | CA348406413 | PROC | c.1242G>C (p.Trp414Cys) c.566G>C c.1344G>C (p.Trp448Cys) c.1425G>C (p.Trp475Cys) c.1407G>C (p.Trp469Cys) c.1305G>C (p.Trp435Cys) n.1332-538C>G c.1485G>C (p.Trp495Cys) c.1587G>C (p.Trp529Cys) c.1527G>C (p.Trp509Cys) n.3607-538C>G n.4043-538C>G c.1410G>C (p.Trp470Cys) c.1428G>C (p.Trp476Cys) c.1185G>C (p.Trp395Cys) c.1218G>C (p.Trp406Cys) c.1236G>C (p.Trp412Cys) | |
2 | g.127428802G= | CA1286884660 | PROC | c.1242G= (p.Trp414=) c.566G= c.1344G= (p.Trp448=) c.1425G= (p.Trp475=) c.1407G= (p.Trp469=) c.1305G= (p.Trp435=) n.1332-538C= c.1485G= (p.Trp495=) c.1587G= (p.Trp529=) c.1527G= (p.Trp509=) n.3607-538C= n.4043-538C= c.1410G= (p.Trp470=) c.1428G= (p.Trp476=) c.1185G= (p.Trp395=) c.1218G= (p.Trp406=) c.1236G= (p.Trp412=) | |
2 | g.127428802G>T | CA348406411 | PROC | c.1242G>T (p.Trp414Cys) c.566G>T c.1344G>T (p.Trp448Cys) c.1425G>T (p.Trp475Cys) c.1407G>T (p.Trp469Cys) c.1305G>T (p.Trp435Cys) n.1332-538C>A c.1485G>T (p.Trp495Cys) c.1587G>T (p.Trp529Cys) c.1527G>T (p.Trp509Cys) n.3607-538C>A n.4043-538C>A c.1410G>T (p.Trp470Cys) c.1428G>T (p.Trp476Cys) c.1185G>T (p.Trp395Cys) c.1218G>T (p.Trp406Cys) c.1236G>T (p.Trp412Cys) | |
2 | g.127428803T>A | CA348406415 | PROC | c.1243T>A (p.Phe415Ile) c.567T>A c.1345T>A (p.Phe449Ile) c.1426T>A (p.Phe476Ile) c.1408T>A (p.Phe470Ile) c.1306T>A (p.Phe436Ile) n.1332-539A>T c.1486T>A (p.Phe496Ile) c.1588T>A (p.Phe530Ile) c.1528T>A (p.Phe510Ile) n.3607-539A>T n.4043-539A>T c.1411T>A (p.Phe471Ile) c.1429T>A (p.Phe477Ile) c.1186T>A (p.Phe396Ile) c.1219T>A (p.Phe407Ile) c.1237T>A (p.Phe413Ile) | |
2 | g.127428803T>C | CA1859554 | PROC | c.1243T>C (p.Phe415Leu) c.567T>C c.1345T>C (p.Phe449Leu) c.1426T>C (p.Phe476Leu) c.1408T>C (p.Phe470Leu) c.1306T>C (p.Phe436Leu) n.1332-539A>G c.1486T>C (p.Phe496Leu) c.1588T>C (p.Phe530Leu) c.1528T>C (p.Phe510Leu) n.3607-539A>G n.4043-539A>G c.1411T>C (p.Phe471Leu) c.1429T>C (p.Phe477Leu) c.1186T>C (p.Phe396Leu) c.1219T>C (p.Phe407Leu) c.1237T>C (p.Phe413Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428803T>G | CA348406418 | PROC | c.1243T>G (p.Phe415Val) c.567T>G c.1345T>G (p.Phe449Val) c.1426T>G (p.Phe476Val) c.1408T>G (p.Phe470Val) c.1306T>G (p.Phe436Val) n.1332-539A>C c.1486T>G (p.Phe496Val) c.1588T>G (p.Phe530Val) c.1528T>G (p.Phe510Val) n.3607-539A>C n.4043-539A>C c.1411T>G (p.Phe471Val) c.1429T>G (p.Phe477Val) c.1186T>G (p.Phe396Val) c.1219T>G (p.Phe407Val) c.1237T>G (p.Phe413Val) | gnomAD v4 |
2 | g.127428803T= | CA1286884661 | PROC | c.1243T= (p.Phe415=) c.567T= c.1345T= (p.Phe449=) c.1426T= (p.Phe476=) c.1408T= (p.Phe470=) c.1306T= (p.Phe436=) n.1332-539A= c.1486T= (p.Phe496=) c.1588T= (p.Phe530=) c.1528T= (p.Phe510=) n.3607-539A= n.4043-539A= c.1411T= (p.Phe471=) c.1429T= (p.Phe477=) c.1186T= (p.Phe396=) c.1219T= (p.Phe407=) c.1237T= (p.Phe413=) | |
2 | g.127428804T>A | CA348406419 | PROC | c.1244T>A (p.Phe415Tyr) c.568T>A c.1346T>A (p.Phe449Tyr) c.1427T>A (p.Phe476Tyr) c.1409T>A (p.Phe470Tyr) c.1307T>A (p.Phe436Tyr) n.1332-540A>T c.1487T>A (p.Phe496Tyr) c.1589T>A (p.Phe530Tyr) c.1529T>A (p.Phe510Tyr) n.3607-540A>T n.4043-540A>T c.1412T>A (p.Phe471Tyr) c.1430T>A (p.Phe477Tyr) c.1187T>A (p.Phe396Tyr) c.1220T>A (p.Phe407Tyr) c.1238T>A (p.Phe413Tyr) | |
2 | g.127428804T>C | CA348406421 | PROC | c.1244T>C (p.Phe415Ser) c.568T>C c.1346T>C (p.Phe449Ser) c.1427T>C (p.Phe476Ser) c.1409T>C (p.Phe470Ser) c.1307T>C (p.Phe436Ser) n.1332-540A>G c.1487T>C (p.Phe496Ser) c.1589T>C (p.Phe530Ser) c.1529T>C (p.Phe510Ser) n.3607-540A>G n.4043-540A>G c.1412T>C (p.Phe471Ser) c.1430T>C (p.Phe477Ser) c.1187T>C (p.Phe396Ser) c.1220T>C (p.Phe407Ser) c.1238T>C (p.Phe413Ser) | |
2 | g.127428804T>G | CA348406423 | PROC | c.1244T>G (p.Phe415Cys) c.568T>G c.1346T>G (p.Phe449Cys) c.1427T>G (p.Phe476Cys) c.1409T>G (p.Phe470Cys) c.1307T>G (p.Phe436Cys) n.1332-540A>C c.1487T>G (p.Phe496Cys) c.1589T>G (p.Phe530Cys) c.1529T>G (p.Phe510Cys) n.3607-540A>C n.4043-540A>C c.1412T>G (p.Phe471Cys) c.1430T>G (p.Phe477Cys) c.1187T>G (p.Phe396Cys) c.1220T>G (p.Phe407Cys) c.1238T>G (p.Phe413Cys) | |
2 | g.127428805C>A | CA348406426 | PROC | c.1245C>A (p.Phe415Leu) c.569C>A c.1347C>A (p.Phe449Leu) c.1428C>A (p.Phe476Leu) c.1410C>A (p.Phe470Leu) c.1308C>A (p.Phe436Leu) n.1332-541G>T c.1488C>A (p.Phe496Leu) c.1590C>A (p.Phe530Leu) c.1530C>A (p.Phe510Leu) n.3607-541G>T n.4043-541G>T c.1413C>A (p.Phe471Leu) c.1431C>A (p.Phe477Leu) c.1188C>A (p.Phe396Leu) c.1221C>A (p.Phe407Leu) c.1239C>A (p.Phe413Leu) | |
2 | g.127428805C>G | CA348406428 | PROC | c.1245C>G (p.Phe415Leu) c.569C>G c.1347C>G (p.Phe449Leu) c.1428C>G (p.Phe476Leu) c.1410C>G (p.Phe470Leu) c.1308C>G (p.Phe436Leu) n.1332-541G>C c.1488C>G (p.Phe496Leu) c.1590C>G (p.Phe530Leu) c.1530C>G (p.Phe510Leu) n.3607-541G>C n.4043-541G>C c.1413C>G (p.Phe471Leu) c.1431C>G (p.Phe477Leu) c.1188C>G (p.Phe396Leu) c.1221C>G (p.Phe407Leu) c.1239C>G (p.Phe413Leu) | |
2 | g.127428805C>T | CA428872698 | PROC | c.1245C>T (p.Phe415=) c.569C>T c.1347C>T (p.Phe449=) c.1428C>T (p.Phe476=) c.1410C>T (p.Phe470=) c.1308C>T (p.Phe436=) n.1332-541G>A c.1488C>T (p.Phe496=) c.1590C>T (p.Phe530=) c.1530C>T (p.Phe510=) n.3607-541G>A n.4043-541G>A c.1413C>T (p.Phe471=) c.1431C>T (p.Phe477=) c.1188C>T (p.Phe396=) c.1221C>T (p.Phe407=) c.1239C>T (p.Phe413=) | |
2 | g.127428806C>A | CA348406430 | PROC | c.1246C>A (p.Leu416Met) c.570C>A c.1348C>A (p.Leu450Met) c.1429C>A (p.Leu477Met) c.1411C>A (p.Leu471Met) c.1309C>A (p.Leu437Met) n.1332-542G>T c.1489C>A (p.Leu497Met) c.1591C>A (p.Leu531Met) c.1531C>A (p.Leu511Met) n.3607-542G>T n.4043-542G>T c.1414C>A (p.Leu472Met) c.1432C>A (p.Leu478Met) c.1189C>A (p.Leu397Met) c.1222C>A (p.Leu408Met) c.1240C>A (p.Leu414Met) | |
2 | g.127428806C>G | CA348406431 | PROC | c.1246C>G (p.Leu416Val) c.570C>G c.1348C>G (p.Leu450Val) c.1429C>G (p.Leu477Val) c.1411C>G (p.Leu471Val) c.1309C>G (p.Leu437Val) n.1332-542G>C c.1489C>G (p.Leu497Val) c.1591C>G (p.Leu531Val) c.1531C>G (p.Leu511Val) n.3607-542G>C n.4043-542G>C c.1414C>G (p.Leu472Val) c.1432C>G (p.Leu478Val) c.1189C>G (p.Leu397Val) c.1222C>G (p.Leu408Val) c.1240C>G (p.Leu414Val) | |
2 | g.127428806C>T | CA428872705 | PROC | c.1246C>T (p.Leu416=) c.570C>T c.1348C>T (p.Leu450=) c.1429C>T (p.Leu477=) c.1411C>T (p.Leu471=) c.1309C>T (p.Leu437=) n.1332-542G>A c.1489C>T (p.Leu497=) c.1591C>T (p.Leu531=) c.1531C>T (p.Leu511=) n.3607-542G>A n.4043-542G>A c.1414C>T (p.Leu472=) c.1432C>T (p.Leu478=) c.1189C>T (p.Leu397=) c.1222C>T (p.Leu408=) c.1240C>T (p.Leu414=) | gnomAD v4 |
2 | g.127428807T>A | CA348406434 | PROC | c.1247T>A (p.Leu416Gln) c.571T>A c.1349T>A (p.Leu450Gln) c.1430T>A (p.Leu477Gln) c.1412T>A (p.Leu471Gln) c.1310T>A (p.Leu437Gln) n.1332-543A>T c.1490T>A (p.Leu497Gln) c.1592T>A (p.Leu531Gln) c.1532T>A (p.Leu511Gln) n.3607-543A>T n.4043-543A>T c.1415T>A (p.Leu472Gln) c.1433T>A (p.Leu478Gln) c.1190T>A (p.Leu397Gln) c.1223T>A (p.Leu408Gln) c.1241T>A (p.Leu414Gln) | |
2 | g.127428807T>C | CA348406436 | PROC | c.1247T>C (p.Leu416Pro) c.571T>C c.1349T>C (p.Leu450Pro) c.1430T>C (p.Leu477Pro) c.1412T>C (p.Leu471Pro) c.1310T>C (p.Leu437Pro) n.1332-543A>G c.1490T>C (p.Leu497Pro) c.1592T>C (p.Leu531Pro) c.1532T>C (p.Leu511Pro) n.3607-543A>G n.4043-543A>G c.1415T>C (p.Leu472Pro) c.1433T>C (p.Leu478Pro) c.1190T>C (p.Leu397Pro) c.1223T>C (p.Leu408Pro) c.1241T>C (p.Leu414Pro) | |
2 | g.127428807T>G | CA348406437 | PROC | c.1247T>G (p.Leu416Arg) c.571T>G c.1349T>G (p.Leu450Arg) c.1430T>G (p.Leu477Arg) c.1412T>G (p.Leu471Arg) c.1310T>G (p.Leu437Arg) n.1332-543A>C c.1490T>G (p.Leu497Arg) c.1592T>G (p.Leu531Arg) c.1532T>G (p.Leu511Arg) n.3607-543A>C n.4043-543A>C c.1415T>G (p.Leu472Arg) c.1433T>G (p.Leu478Arg) c.1190T>G (p.Leu397Arg) c.1223T>G (p.Leu408Arg) c.1241T>G (p.Leu414Arg) | |
2 | g.127428808G>A | CA428872714 | PROC | c.1248G>A (p.Leu416=) c.572G>A c.1350G>A (p.Leu450=) c.1431G>A (p.Leu477=) c.1413G>A (p.Leu471=) c.1311G>A (p.Leu437=) n.1332-544C>T c.1491G>A (p.Leu497=) c.1593G>A (p.Leu531=) c.1533G>A (p.Leu511=) n.3607-544C>T n.4043-544C>T c.1416G>A (p.Leu472=) c.1434G>A (p.Leu478=) c.1191G>A (p.Leu397=) c.1224G>A (p.Leu408=) c.1242G>A (p.Leu414=) | |
2 | g.127428808G>C | CA428872717 | PROC | c.1248G>C (p.Leu416=) c.572G>C c.1350G>C (p.Leu450=) c.1431G>C (p.Leu477=) c.1413G>C (p.Leu471=) c.1311G>C (p.Leu437=) n.1332-544C>G c.1491G>C (p.Leu497=) c.1593G>C (p.Leu531=) c.1533G>C (p.Leu511=) n.3607-544C>G n.4043-544C>G c.1416G>C (p.Leu472=) c.1434G>C (p.Leu478=) c.1191G>C (p.Leu397=) c.1224G>C (p.Leu408=) c.1242G>C (p.Leu414=) | gnomAD v4 |
2 | g.127428808G= | CA1286884662 | PROC | c.1248G= (p.Leu416=) c.572G= c.1350G= (p.Leu450=) c.1431G= (p.Leu477=) c.1413G= (p.Leu471=) c.1311G= (p.Leu437=) n.1332-544C= c.1491G= (p.Leu497=) c.1593G= (p.Leu531=) c.1533G= (p.Leu511=) n.3607-544C= n.4043-544C= c.1416G= (p.Leu472=) c.1434G= (p.Leu478=) c.1191G= (p.Leu397=) c.1224G= (p.Leu408=) c.1242G= (p.Leu414=) | |
2 | g.127428808G>T | CA428872712 | PROC | c.1248G>T (p.Leu416=) c.572G>T c.1350G>T (p.Leu450=) c.1431G>T (p.Leu477=) c.1413G>T (p.Leu471=) c.1311G>T (p.Leu437=) n.1332-544C>A c.1491G>T (p.Leu497=) c.1593G>T (p.Leu531=) c.1533G>T (p.Leu511=) n.3607-544C>A n.4043-544C>A c.1416G>T (p.Leu472=) c.1434G>T (p.Leu478=) c.1191G>T (p.Leu397=) c.1224G>T (p.Leu408=) c.1242G>T (p.Leu414=) | ClinVar dbSNP gnomAD v4 |
2 | g.127428809G>A | CA348406443 | PROC | c.1249G>A (p.Val417Met) c.573G>A c.1351G>A (p.Val451Met) c.1432G>A (p.Val478Met) c.1414G>A (p.Val472Met) c.1312G>A (p.Val438Met) n.1332-545C>T c.1492G>A (p.Val498Met) c.1594G>A (p.Val532Met) c.1534G>A (p.Val512Met) n.3607-545C>T n.4043-545C>T c.1417G>A (p.Val473Met) c.1435G>A (p.Val479Met) c.1192G>A (p.Val398Met) c.1225G>A (p.Val409Met) c.1243G>A (p.Val415Met) | ClinVar gnomAD v4 |
2 | g.127428809G>C | CA1859555 | PROC | c.1249G>C (p.Val417Leu) c.573G>C c.1351G>C (p.Val451Leu) c.1432G>C (p.Val478Leu) c.1414G>C (p.Val472Leu) c.1312G>C (p.Val438Leu) n.1332-545C>G c.1492G>C (p.Val498Leu) c.1594G>C (p.Val532Leu) c.1534G>C (p.Val512Leu) n.3607-545C>G n.4043-545C>G c.1417G>C (p.Val473Leu) c.1435G>C (p.Val479Leu) c.1192G>C (p.Val398Leu) c.1225G>C (p.Val409Leu) c.1243G>C (p.Val415Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428809G= | CA1286884663 | PROC | c.1249G= (p.Val417=) c.573G= c.1351G= (p.Val451=) c.1432G= (p.Val478=) c.1414G= (p.Val472=) c.1312G= (p.Val438=) n.1332-545C= c.1492G= (p.Val498=) c.1594G= (p.Val532=) c.1534G= (p.Val512=) n.3607-545C= n.4043-545C= c.1417G= (p.Val473=) c.1435G= (p.Val479=) c.1192G= (p.Val398=) c.1225G= (p.Val409=) c.1243G= (p.Val415=) | |
2 | g.127428809G>T | CA348406440 | PROC | c.1249G>T (p.Val417Leu) c.573G>T c.1351G>T (p.Val451Leu) c.1432G>T (p.Val478Leu) c.1414G>T (p.Val472Leu) c.1312G>T (p.Val438Leu) n.1332-545C>A c.1492G>T (p.Val498Leu) c.1594G>T (p.Val532Leu) c.1534G>T (p.Val512Leu) n.3607-545C>A n.4043-545C>A c.1417G>T (p.Val473Leu) c.1435G>T (p.Val479Leu) c.1192G>T (p.Val398Leu) c.1225G>T (p.Val409Leu) c.1243G>T (p.Val415Leu) | |
2 | g.127428810T>A | CA348406444 | PROC | c.1250T>A (p.Val417Glu) c.574T>A c.1352T>A (p.Val451Glu) c.1433T>A (p.Val478Glu) c.1415T>A (p.Val472Glu) c.1313T>A (p.Val438Glu) n.1332-546A>T c.1493T>A (p.Val498Glu) c.1595T>A (p.Val532Glu) c.1535T>A (p.Val512Glu) n.3607-546A>T n.4043-546A>T c.1418T>A (p.Val473Glu) c.1436T>A (p.Val479Glu) c.1193T>A (p.Val398Glu) c.1226T>A (p.Val409Glu) c.1244T>A (p.Val415Glu) | |
2 | g.127428810T>C | CA348406446 | PROC | c.1250T>C (p.Val417Ala) c.574T>C c.1352T>C (p.Val451Ala) c.1433T>C (p.Val478Ala) c.1415T>C (p.Val472Ala) c.1313T>C (p.Val438Ala) n.1332-546A>G c.1493T>C (p.Val498Ala) c.1595T>C (p.Val532Ala) c.1535T>C (p.Val512Ala) n.3607-546A>G n.4043-546A>G c.1418T>C (p.Val473Ala) c.1436T>C (p.Val479Ala) c.1193T>C (p.Val398Ala) c.1226T>C (p.Val409Ala) c.1244T>C (p.Val415Ala) | |
2 | g.127428810T>G | CA348406447 | PROC | c.1250T>G (p.Val417Gly) c.574T>G c.1352T>G (p.Val451Gly) c.1433T>G (p.Val478Gly) c.1415T>G (p.Val472Gly) c.1313T>G (p.Val438Gly) n.1332-546A>C c.1493T>G (p.Val498Gly) c.1595T>G (p.Val532Gly) c.1535T>G (p.Val512Gly) n.3607-546A>C n.4043-546A>C c.1418T>G (p.Val473Gly) c.1436T>G (p.Val479Gly) c.1193T>G (p.Val398Gly) c.1226T>G (p.Val409Gly) c.1244T>G (p.Val415Gly) | |
2 | g.127428810dup | CA2586969924 | PROC | c.1250dup (p.Leu419ProfsTer6) c.574dup c.1352dup (p.Leu453ProfsTer6) c.1433dup (p.Leu480ProfsTer6) c.1415dup (p.Leu474ProfsTer6) c.1313dup (p.Leu440ProfsTer6) n.1332-546dup c.1493dup (p.Leu500ProfsTer6) c.1595dup (p.Leu534ProfsTer6) c.1535dup (p.Leu514ProfsTer6) n.3607-546dup n.4043-546dup c.1418dup (p.Leu475ProfsTer6) c.1436dup (p.Leu481ProfsTer6) c.1193dup (p.Leu400ProfsTer6) c.1226dup (p.Leu411ProfsTer6) c.1244dup (p.Leu417ProfsTer6) | |
2 | g.127428811G>A | CA428872736 | PROC | c.1251G>A (p.Val417=) c.575G>A c.1353G>A (p.Val451=) c.1434G>A (p.Val478=) c.1416G>A (p.Val472=) c.1314G>A (p.Val438=) n.1332-547C>T c.1494G>A (p.Val498=) c.1596G>A (p.Val532=) c.1536G>A (p.Val512=) n.3607-547C>T n.4043-547C>T c.1419G>A (p.Val473=) c.1437G>A (p.Val479=) c.1194G>A (p.Val398=) c.1227G>A (p.Val409=) c.1245G>A (p.Val415=) | |
2 | g.127428811G>C | CA428872731 | PROC | c.1251G>C (p.Val417=) c.575G>C c.1353G>C (p.Val451=) c.1434G>C (p.Val478=) c.1416G>C (p.Val472=) c.1314G>C (p.Val438=) n.1332-547C>G c.1494G>C (p.Val498=) c.1596G>C (p.Val532=) c.1536G>C (p.Val512=) n.3607-547C>G n.4043-547C>G c.1419G>C (p.Val473=) c.1437G>C (p.Val479=) c.1194G>C (p.Val398=) c.1227G>C (p.Val409=) c.1245G>C (p.Val415=) | |
2 | g.127428811G>T | CA428872733 | PROC | c.1251G>T (p.Val417=) c.575G>T c.1353G>T (p.Val451=) c.1434G>T (p.Val478=) c.1416G>T (p.Val472=) c.1314G>T (p.Val438=) n.1332-547C>A c.1494G>T (p.Val498=) c.1596G>T (p.Val532=) c.1536G>T (p.Val512=) n.3607-547C>A n.4043-547C>A c.1419G>T (p.Val473=) c.1437G>T (p.Val479=) c.1194G>T (p.Val398=) c.1227G>T (p.Val409=) c.1245G>T (p.Val415=) | |
2 | g.127428812G>A | CA348406450 | PROC | c.1252G>A (p.Gly418Ser) c.576G>A c.1354G>A (p.Gly452Ser) c.1435G>A (p.Gly479Ser) c.1417G>A (p.Gly473Ser) c.1315G>A (p.Gly439Ser) n.1332-548C>T c.1495G>A (p.Gly499Ser) c.1597G>A (p.Gly533Ser) c.1537G>A (p.Gly513Ser) n.3607-548C>T n.4043-548C>T c.1420G>A (p.Gly474Ser) c.1438G>A (p.Gly480Ser) c.1195G>A (p.Gly399Ser) c.1228G>A (p.Gly410Ser) c.1246G>A (p.Gly416Ser) | |
2 | g.127428812G>C | CA348406452 | PROC | c.1252G>C (p.Gly418Arg) c.576G>C c.1354G>C (p.Gly452Arg) c.1435G>C (p.Gly479Arg) c.1417G>C (p.Gly473Arg) c.1315G>C (p.Gly439Arg) n.1332-548C>G c.1495G>C (p.Gly499Arg) c.1597G>C (p.Gly533Arg) c.1537G>C (p.Gly513Arg) n.3607-548C>G n.4043-548C>G c.1420G>C (p.Gly474Arg) c.1438G>C (p.Gly480Arg) c.1195G>C (p.Gly399Arg) c.1228G>C (p.Gly410Arg) c.1246G>C (p.Gly416Arg) | |
2 | g.127428812G>T | CA348406453 | PROC | c.1252G>T (p.Gly418Cys) c.576G>T c.1354G>T (p.Gly452Cys) c.1435G>T (p.Gly479Cys) c.1417G>T (p.Gly473Cys) c.1315G>T (p.Gly439Cys) n.1332-548C>A c.1495G>T (p.Gly499Cys) c.1597G>T (p.Gly533Cys) c.1537G>T (p.Gly513Cys) n.3607-548C>A n.4043-548C>A c.1420G>T (p.Gly474Cys) c.1438G>T (p.Gly480Cys) c.1195G>T (p.Gly399Cys) c.1228G>T (p.Gly410Cys) c.1246G>T (p.Gly416Cys) | |
2 | g.127428813G>A | CA348406455 | PROC | c.1253G>A (p.Gly418Asp) c.577G>A c.1355G>A (p.Gly452Asp) c.1436G>A (p.Gly479Asp) c.1418G>A (p.Gly473Asp) c.1316G>A (p.Gly439Asp) n.1332-549C>T c.1496G>A (p.Gly499Asp) c.1598G>A (p.Gly533Asp) c.1538G>A (p.Gly513Asp) n.3607-549C>T n.4043-549C>T c.1421G>A (p.Gly474Asp) c.1439G>A (p.Gly480Asp) c.1196G>A (p.Gly399Asp) c.1229G>A (p.Gly410Asp) c.1247G>A (p.Gly416Asp) | |
2 | g.127428813G>C | CA348406457 | PROC | c.1253G>C (p.Gly418Ala) c.577G>C c.1355G>C (p.Gly452Ala) c.1436G>C (p.Gly479Ala) c.1418G>C (p.Gly473Ala) c.1316G>C (p.Gly439Ala) n.1332-549C>G c.1496G>C (p.Gly499Ala) c.1598G>C (p.Gly533Ala) c.1538G>C (p.Gly513Ala) n.3607-549C>G n.4043-549C>G c.1421G>C (p.Gly474Ala) c.1439G>C (p.Gly480Ala) c.1196G>C (p.Gly399Ala) c.1229G>C (p.Gly410Ala) c.1247G>C (p.Gly416Ala) | |
2 | g.127428813G>T | CA348406459 | PROC | c.1253G>T (p.Gly418Val) c.577G>T c.1355G>T (p.Gly452Val) c.1436G>T (p.Gly479Val) c.1418G>T (p.Gly473Val) c.1316G>T (p.Gly439Val) n.1332-549C>A c.1496G>T (p.Gly499Val) c.1598G>T (p.Gly533Val) c.1538G>T (p.Gly513Val) n.3607-549C>A n.4043-549C>A c.1421G>T (p.Gly474Val) c.1439G>T (p.Gly480Val) c.1196G>T (p.Gly399Val) c.1229G>T (p.Gly410Val) c.1247G>T (p.Gly416Val) | |
2 | g.127428814C>A | CA428872752 | PROC | c.1254C>A (p.Gly418=) c.578C>A c.1356C>A (p.Gly452=) c.1437C>A (p.Gly479=) c.1419C>A (p.Gly473=) c.1317C>A (p.Gly439=) n.1332-550G>T c.1497C>A (p.Gly499=) c.1599C>A (p.Gly533=) c.1539C>A (p.Gly513=) n.3607-550G>T n.4043-550G>T c.1422C>A (p.Gly474=) c.1440C>A (p.Gly480=) c.1197C>A (p.Gly399=) c.1230C>A (p.Gly410=) c.1248C>A (p.Gly416=) | |
2 | g.127428814C= | CA1286884664 | PROC | c.1254C= (p.Gly418=) c.578C= c.1356C= (p.Gly452=) c.1437C= (p.Gly479=) c.1419C= (p.Gly473=) c.1317C= (p.Gly439=) n.1332-550G= c.1497C= (p.Gly499=) c.1599C= (p.Gly533=) c.1539C= (p.Gly513=) n.3607-550G= n.4043-550G= c.1422C= (p.Gly474=) c.1440C= (p.Gly480=) c.1197C= (p.Gly399=) c.1230C= (p.Gly410=) c.1248C= (p.Gly416=) | |
2 | g.127428814C>G | CA428872758 | PROC | c.1254C>G (p.Gly418=) c.578C>G c.1356C>G (p.Gly452=) c.1437C>G (p.Gly479=) c.1419C>G (p.Gly473=) c.1317C>G (p.Gly439=) n.1332-550G>C c.1497C>G (p.Gly499=) c.1599C>G (p.Gly533=) c.1539C>G (p.Gly513=) n.3607-550G>C n.4043-550G>C c.1422C>G (p.Gly474=) c.1440C>G (p.Gly480=) c.1197C>G (p.Gly399=) c.1230C>G (p.Gly410=) c.1248C>G (p.Gly416=) | |
2 | g.127428814C>T | CA1859556 | PROC | c.1254C>T (p.Gly418=) c.578C>T c.1356C>T (p.Gly452=) c.1437C>T (p.Gly479=) c.1419C>T (p.Gly473=) c.1317C>T (p.Gly439=) n.1332-550G>A c.1497C>T (p.Gly499=) c.1599C>T (p.Gly533=) c.1539C>T (p.Gly513=) n.3607-550G>A n.4043-550G>A c.1422C>T (p.Gly474=) c.1440C>T (p.Gly480=) c.1197C>T (p.Gly399=) c.1230C>T (p.Gly410=) c.1248C>T (p.Gly416=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428815C>A | CA348406461 | PROC | c.1255C>A (p.Leu419Met) c.579C>A c.1357C>A (p.Leu453Met) c.1438C>A (p.Leu480Met) c.1420C>A (p.Leu474Met) c.1318C>A (p.Leu440Met) n.1332-551G>T c.1498C>A (p.Leu500Met) c.1600C>A (p.Leu534Met) c.1540C>A (p.Leu514Met) n.3607-551G>T n.4043-551G>T c.1423C>A (p.Leu475Met) c.1441C>A (p.Leu481Met) c.1198C>A (p.Leu400Met) c.1231C>A (p.Leu411Met) c.1249C>A (p.Leu417Met) | |
2 | g.127428815C>G | CA348406463 | PROC | c.1255C>G (p.Leu419Val) c.579C>G c.1357C>G (p.Leu453Val) c.1438C>G (p.Leu480Val) c.1420C>G (p.Leu474Val) c.1318C>G (p.Leu440Val) n.1332-551G>C c.1498C>G (p.Leu500Val) c.1600C>G (p.Leu534Val) c.1540C>G (p.Leu514Val) n.3607-551G>C n.4043-551G>C c.1423C>G (p.Leu475Val) c.1441C>G (p.Leu481Val) c.1198C>G (p.Leu400Val) c.1231C>G (p.Leu411Val) c.1249C>G (p.Leu417Val) | |
2 | g.127428815C>T | CA428872765 | PROC | c.1255C>T (p.Leu419=) c.579C>T c.1357C>T (p.Leu453=) c.1438C>T (p.Leu480=) c.1420C>T (p.Leu474=) c.1318C>T (p.Leu440=) n.1332-551G>A c.1498C>T (p.Leu500=) c.1600C>T (p.Leu534=) c.1540C>T (p.Leu514=) n.3607-551G>A n.4043-551G>A c.1423C>T (p.Leu475=) c.1441C>T (p.Leu481=) c.1198C>T (p.Leu400=) c.1231C>T (p.Leu411=) c.1249C>T (p.Leu417=) | |
2 | g.127428816T>A | CA348406466 | PROC | c.1256T>A (p.Leu419Gln) c.580T>A c.1358T>A (p.Leu453Gln) c.1439T>A (p.Leu480Gln) c.1421T>A (p.Leu474Gln) c.1319T>A (p.Leu440Gln) n.1332-552A>T c.1499T>A (p.Leu500Gln) c.1601T>A (p.Leu534Gln) c.1541T>A (p.Leu514Gln) n.3607-552A>T n.4043-552A>T c.1424T>A (p.Leu475Gln) c.1442T>A (p.Leu481Gln) c.1199T>A (p.Leu400Gln) c.1232T>A (p.Leu411Gln) c.1250T>A (p.Leu417Gln) | |
2 | g.127428816T>C | CA348406469 | PROC | c.1256T>C (p.Leu419Pro) c.580T>C c.1358T>C (p.Leu453Pro) c.1439T>C (p.Leu480Pro) c.1421T>C (p.Leu474Pro) c.1319T>C (p.Leu440Pro) n.1332-552A>G c.1499T>C (p.Leu500Pro) c.1601T>C (p.Leu534Pro) c.1541T>C (p.Leu514Pro) n.3607-552A>G n.4043-552A>G c.1424T>C (p.Leu475Pro) c.1442T>C (p.Leu481Pro) c.1199T>C (p.Leu400Pro) c.1232T>C (p.Leu411Pro) c.1250T>C (p.Leu417Pro) | |
2 | g.127428816T>G | CA348406467 | PROC | c.1256T>G (p.Leu419Arg) c.580T>G c.1358T>G (p.Leu453Arg) c.1439T>G (p.Leu480Arg) c.1421T>G (p.Leu474Arg) c.1319T>G (p.Leu440Arg) n.1332-552A>C c.1499T>G (p.Leu500Arg) c.1601T>G (p.Leu534Arg) c.1541T>G (p.Leu514Arg) n.3607-552A>C n.4043-552A>C c.1424T>G (p.Leu475Arg) c.1442T>G (p.Leu481Arg) c.1199T>G (p.Leu400Arg) c.1232T>G (p.Leu411Arg) c.1250T>G (p.Leu417Arg) | |
2 | g.127428817G>A | CA428872775 | PROC | c.1257G>A (p.Leu419=) c.581G>A c.1359G>A (p.Leu453=) c.1440G>A (p.Leu480=) c.1422G>A (p.Leu474=) c.1320G>A (p.Leu440=) n.1332-553C>T c.1500G>A (p.Leu500=) c.1602G>A (p.Leu534=) c.1542G>A (p.Leu514=) n.3607-553C>T n.4043-553C>T c.1425G>A (p.Leu475=) c.1443G>A (p.Leu481=) c.1200G>A (p.Leu400=) c.1233G>A (p.Leu411=) c.1251G>A (p.Leu417=) | |
2 | g.127428817G>C | CA428872777 | PROC | c.1257G>C (p.Leu419=) c.581G>C c.1359G>C (p.Leu453=) c.1440G>C (p.Leu480=) c.1422G>C (p.Leu474=) c.1320G>C (p.Leu440=) n.1332-553C>G c.1500G>C (p.Leu500=) c.1602G>C (p.Leu534=) c.1542G>C (p.Leu514=) n.3607-553C>G n.4043-553C>G c.1425G>C (p.Leu475=) c.1443G>C (p.Leu481=) c.1200G>C (p.Leu400=) c.1233G>C (p.Leu411=) c.1251G>C (p.Leu417=) | |
2 | g.127428817G>T | CA428872781 | PROC | c.1257G>T (p.Leu419=) c.581G>T c.1359G>T (p.Leu453=) c.1440G>T (p.Leu480=) c.1422G>T (p.Leu474=) c.1320G>T (p.Leu440=) n.1332-553C>A c.1500G>T (p.Leu500=) c.1602G>T (p.Leu534=) c.1542G>T (p.Leu514=) n.3607-553C>A n.4043-553C>A c.1425G>T (p.Leu475=) c.1443G>T (p.Leu481=) c.1200G>T (p.Leu400=) c.1233G>T (p.Leu411=) c.1251G>T (p.Leu417=) | |
2 | g.127428818G>A | CA348406471 | PROC | c.1258G>A (p.Val420Met) c.582G>A c.1360G>A (p.Val454Met) c.1441G>A (p.Val481Met) c.1423G>A (p.Val475Met) c.1321G>A (p.Val441Met) n.1332-554C>T c.1501G>A (p.Val501Met) c.1603G>A (p.Val535Met) c.1543G>A (p.Val515Met) n.3607-554C>T n.4043-554C>T c.1426G>A (p.Val476Met) c.1444G>A (p.Val482Met) c.1201G>A (p.Val401Met) c.1234G>A (p.Val412Met) c.1252G>A (p.Val418Met) | |
2 | g.127428818G>C | CA348406473 | PROC | c.1258G>C (p.Val420Leu) c.582G>C c.1360G>C (p.Val454Leu) c.1441G>C (p.Val481Leu) c.1423G>C (p.Val475Leu) c.1321G>C (p.Val441Leu) n.1332-554C>G c.1501G>C (p.Val501Leu) c.1603G>C (p.Val535Leu) c.1543G>C (p.Val515Leu) n.3607-554C>G n.4043-554C>G c.1426G>C (p.Val476Leu) c.1444G>C (p.Val482Leu) c.1201G>C (p.Val401Leu) c.1234G>C (p.Val412Leu) c.1252G>C (p.Val418Leu) | |
2 | g.127428818G= | CA1286884665 | PROC | c.1258G= (p.Val420=) c.582G= c.1360G= (p.Val454=) c.1441G= (p.Val481=) c.1423G= (p.Val475=) c.1321G= (p.Val441=) n.1332-554C= c.1501G= (p.Val501=) c.1603G= (p.Val535=) c.1543G= (p.Val515=) n.3607-554C= n.4043-554C= c.1426G= (p.Val476=) c.1444G= (p.Val482=) c.1201G= (p.Val401=) c.1234G= (p.Val412=) c.1252G= (p.Val418=) | |
2 | g.127428818G>T | CA55351436 | PROC | c.1258G>T (p.Val420Leu) c.582G>T c.1360G>T (p.Val454Leu) c.1441G>T (p.Val481Leu) c.1423G>T (p.Val475Leu) c.1321G>T (p.Val441Leu) n.1332-554C>A c.1501G>T (p.Val501Leu) c.1603G>T (p.Val535Leu) c.1543G>T (p.Val515Leu) n.3607-554C>A n.4043-554C>A c.1426G>T (p.Val476Leu) c.1444G>T (p.Val482Leu) c.1201G>T (p.Val401Leu) c.1234G>T (p.Val412Leu) c.1252G>T (p.Val418Leu) | dbSNP gnomAD v2 |
2 | g.127428819T>A | CA1859557 | PROC | c.1259T>A (p.Val420Glu) c.583T>A c.1361T>A (p.Val454Glu) c.1442T>A (p.Val481Glu) c.1424T>A (p.Val475Glu) c.1322T>A (p.Val441Glu) n.1332-555A>T c.1502T>A (p.Val501Glu) c.1604T>A (p.Val535Glu) c.1544T>A (p.Val515Glu) n.3607-555A>T n.4043-555A>T c.1427T>A (p.Val476Glu) c.1445T>A (p.Val482Glu) c.1202T>A (p.Val401Glu) c.1235T>A (p.Val412Glu) c.1253T>A (p.Val418Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428819T>C | CA348406476 | PROC | c.1259T>C (p.Val420Ala) c.583T>C c.1361T>C (p.Val454Ala) c.1442T>C (p.Val481Ala) c.1424T>C (p.Val475Ala) c.1322T>C (p.Val441Ala) n.1332-555A>G c.1502T>C (p.Val501Ala) c.1604T>C (p.Val535Ala) c.1544T>C (p.Val515Ala) n.3607-555A>G n.4043-555A>G c.1427T>C (p.Val476Ala) c.1445T>C (p.Val482Ala) c.1202T>C (p.Val401Ala) c.1235T>C (p.Val412Ala) c.1253T>C (p.Val418Ala) | |
2 | g.127428819T>G | CA348406478 | PROC | c.1259T>G (p.Val420Gly) c.583T>G c.1361T>G (p.Val454Gly) c.1442T>G (p.Val481Gly) c.1424T>G (p.Val475Gly) c.1322T>G (p.Val441Gly) n.1332-555A>C c.1502T>G (p.Val501Gly) c.1604T>G (p.Val535Gly) c.1544T>G (p.Val515Gly) n.3607-555A>C n.4043-555A>C c.1427T>G (p.Val476Gly) c.1445T>G (p.Val482Gly) c.1202T>G (p.Val401Gly) c.1235T>G (p.Val412Gly) c.1253T>G (p.Val418Gly) | |
2 | g.127428819T= | CA1286884666 | PROC | c.1259T= (p.Val420=) c.583T= c.1361T= (p.Val454=) c.1442T= (p.Val481=) c.1424T= (p.Val475=) c.1322T= (p.Val441=) n.1332-555A= c.1502T= (p.Val501=) c.1604T= (p.Val535=) c.1544T= (p.Val515=) n.3607-555A= n.4043-555A= c.1427T= (p.Val476=) c.1445T= (p.Val482=) c.1202T= (p.Val401=) c.1235T= (p.Val412=) c.1253T= (p.Val418=) | |
2 | g.127428820G>A | CA428872799 | PROC | c.1260G>A (p.Val420=) c.584G>A c.1362G>A (p.Val454=) c.1443G>A (p.Val481=) c.1425G>A (p.Val475=) c.1323G>A (p.Val441=) n.1332-556C>T c.1503G>A (p.Val501=) c.1605G>A (p.Val535=) c.1545G>A (p.Val515=) n.3607-556C>T n.4043-556C>T c.1428G>A (p.Val476=) c.1446G>A (p.Val482=) c.1203G>A (p.Val401=) c.1236G>A (p.Val412=) c.1254G>A (p.Val418=) | ClinVar |
2 | g.127428820G>C | CA428872801 | PROC | c.1260G>C (p.Val420=) c.584G>C c.1362G>C (p.Val454=) c.1443G>C (p.Val481=) c.1425G>C (p.Val475=) c.1323G>C (p.Val441=) n.1332-556C>G c.1503G>C (p.Val501=) c.1605G>C (p.Val535=) c.1545G>C (p.Val515=) n.3607-556C>G n.4043-556C>G c.1428G>C (p.Val476=) c.1446G>C (p.Val482=) c.1203G>C (p.Val401=) c.1236G>C (p.Val412=) c.1254G>C (p.Val418=) | |
2 | g.127428820G>T | CA428872803 | PROC | c.1260G>T (p.Val420=) c.584G>T c.1362G>T (p.Val454=) c.1443G>T (p.Val481=) c.1425G>T (p.Val475=) c.1323G>T (p.Val441=) n.1332-556C>A c.1503G>T (p.Val501=) c.1605G>T (p.Val535=) c.1545G>T (p.Val515=) n.3607-556C>A n.4043-556C>A c.1428G>T (p.Val476=) c.1446G>T (p.Val482=) c.1203G>T (p.Val401=) c.1236G>T (p.Val412=) c.1254G>T (p.Val418=) | |
2 | g.127428821A= | CA1286884667 | PROC | c.1261A= (p.Ser421=) c.585A= c.1363A= (p.Ser455=) c.1444A= (p.Ser482=) c.1426A= (p.Ser476=) c.1324A= (p.Ser442=) n.1332-557T= c.1504A= (p.Ser502=) c.1606A= (p.Ser536=) c.1546A= (p.Ser516=) n.3607-557T= n.4043-557T= c.1429A= (p.Ser477=) c.1447A= (p.Ser483=) c.1204A= (p.Ser402=) c.1237A= (p.Ser413=) c.1255A= (p.Ser419=) | |
2 | g.127428821A>C | CA348406480 | PROC | c.1261A>C (p.Ser421Arg) c.585A>C c.1363A>C (p.Ser455Arg) c.1444A>C (p.Ser482Arg) c.1426A>C (p.Ser476Arg) c.1324A>C (p.Ser442Arg) n.1332-557T>G c.1504A>C (p.Ser502Arg) c.1606A>C (p.Ser536Arg) c.1546A>C (p.Ser516Arg) n.3607-557T>G n.4043-557T>G c.1429A>C (p.Ser477Arg) c.1447A>C (p.Ser483Arg) c.1204A>C (p.Ser402Arg) c.1237A>C (p.Ser413Arg) c.1255A>C (p.Ser419Arg) | |
2 | g.127428821A>G | CA1859558 | PROC | c.1261A>G (p.Ser421Gly) c.585A>G c.1363A>G (p.Ser455Gly) c.1444A>G (p.Ser482Gly) c.1426A>G (p.Ser476Gly) c.1324A>G (p.Ser442Gly) n.1332-557T>C c.1504A>G (p.Ser502Gly) c.1606A>G (p.Ser536Gly) c.1546A>G (p.Ser516Gly) n.3607-557T>C n.4043-557T>C c.1429A>G (p.Ser477Gly) c.1447A>G (p.Ser483Gly) c.1204A>G (p.Ser402Gly) c.1237A>G (p.Ser413Gly) c.1255A>G (p.Ser419Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428821A>T | CA348406483 | PROC | c.1261A>T (p.Ser421Cys) c.585A>T c.1363A>T (p.Ser455Cys) c.1444A>T (p.Ser482Cys) c.1426A>T (p.Ser476Cys) c.1324A>T (p.Ser442Cys) n.1332-557T>A c.1504A>T (p.Ser502Cys) c.1606A>T (p.Ser536Cys) c.1546A>T (p.Ser516Cys) n.3607-557T>A n.4043-557T>A c.1429A>T (p.Ser477Cys) c.1447A>T (p.Ser483Cys) c.1204A>T (p.Ser402Cys) c.1237A>T (p.Ser413Cys) c.1255A>T (p.Ser419Cys) | |
2 | g.127428822G>A | CA348406486 | PROC | c.1262G>A (p.Ser421Asn) c.586G>A c.1364G>A (p.Ser455Asn) c.1445G>A (p.Ser482Asn) c.1427G>A (p.Ser476Asn) c.1325G>A (p.Ser442Asn) n.1332-558C>T c.1505G>A (p.Ser502Asn) c.1607G>A (p.Ser536Asn) c.1547G>A (p.Ser516Asn) n.3607-558C>T n.4043-558C>T c.1430G>A (p.Ser477Asn) c.1448G>A (p.Ser483Asn) c.1205G>A (p.Ser402Asn) c.1238G>A (p.Ser413Asn) c.1256G>A (p.Ser419Asn) | ClinVar |
2 | g.127428822G>C | CA348406487 | PROC | c.1262G>C (p.Ser421Thr) c.586G>C c.1364G>C (p.Ser455Thr) c.1445G>C (p.Ser482Thr) c.1427G>C (p.Ser476Thr) c.1325G>C (p.Ser442Thr) n.1332-558C>G c.1505G>C (p.Ser502Thr) c.1607G>C (p.Ser536Thr) c.1547G>C (p.Ser516Thr) n.3607-558C>G n.4043-558C>G c.1430G>C (p.Ser477Thr) c.1448G>C (p.Ser483Thr) c.1205G>C (p.Ser402Thr) c.1238G>C (p.Ser413Thr) c.1256G>C (p.Ser419Thr) | |
2 | g.127428822G>T | CA348406489 | PROC | c.1262G>T (p.Ser421Ile) c.586G>T c.1364G>T (p.Ser455Ile) c.1445G>T (p.Ser482Ile) c.1427G>T (p.Ser476Ile) c.1325G>T (p.Ser442Ile) n.1332-558C>A c.1505G>T (p.Ser502Ile) c.1607G>T (p.Ser536Ile) c.1547G>T (p.Ser516Ile) n.3607-558C>A n.4043-558C>A c.1430G>T (p.Ser477Ile) c.1448G>T (p.Ser483Ile) c.1205G>T (p.Ser402Ile) c.1238G>T (p.Ser413Ile) c.1256G>T (p.Ser419Ile) | |
2 | g.127428823C>A | CA348406493 | PROC | c.1263C>A (p.Ser421Arg) c.587C>A c.1365C>A (p.Ser455Arg) c.1446C>A (p.Ser482Arg) c.1428C>A (p.Ser476Arg) c.1326C>A (p.Ser442Arg) n.1332-559G>T c.1506C>A (p.Ser502Arg) c.1608C>A (p.Ser536Arg) c.1548C>A (p.Ser516Arg) n.3607-559G>T n.4043-559G>T c.1431C>A (p.Ser477Arg) c.1449C>A (p.Ser483Arg) c.1206C>A (p.Ser402Arg) c.1239C>A (p.Ser413Arg) c.1257C>A (p.Ser419Arg) | |
2 | g.127428823C>G | CA348406492 | PROC | c.1263C>G (p.Ser421Arg) c.587C>G c.1365C>G (p.Ser455Arg) c.1446C>G (p.Ser482Arg) c.1428C>G (p.Ser476Arg) c.1326C>G (p.Ser442Arg) n.1332-559G>C c.1506C>G (p.Ser502Arg) c.1608C>G (p.Ser536Arg) c.1548C>G (p.Ser516Arg) n.3607-559G>C n.4043-559G>C c.1431C>G (p.Ser477Arg) c.1449C>G (p.Ser483Arg) c.1206C>G (p.Ser402Arg) c.1239C>G (p.Ser413Arg) c.1257C>G (p.Ser419Arg) | |
2 | g.127428823C>T | CA428872825 | PROC | c.1263C>T (p.Ser421=) c.587C>T c.1365C>T (p.Ser455=) c.1446C>T (p.Ser482=) c.1428C>T (p.Ser476=) c.1326C>T (p.Ser442=) n.1332-559G>A c.1506C>T (p.Ser502=) c.1608C>T (p.Ser536=) c.1548C>T (p.Ser516=) n.3607-559G>A n.4043-559G>A c.1431C>T (p.Ser477=) c.1449C>T (p.Ser483=) c.1206C>T (p.Ser402=) c.1239C>T (p.Ser413=) c.1257C>T (p.Ser419=) | |
2 | g.127428824T>A | CA348406495 | PROC | c.1264T>A (p.Trp422Arg) c.588T>A c.1366T>A (p.Trp456Arg) c.1447T>A (p.Trp483Arg) c.1429T>A (p.Trp477Arg) c.1327T>A (p.Trp443Arg) n.1332-560A>T c.1507T>A (p.Trp503Arg) c.1609T>A (p.Trp537Arg) c.1549T>A (p.Trp517Arg) n.3607-560A>T n.4043-560A>T c.1432T>A (p.Trp478Arg) c.1450T>A (p.Trp484Arg) c.1207T>A (p.Trp403Arg) c.1240T>A (p.Trp414Arg) c.1258T>A (p.Trp420Arg) | |
2 | g.127428824T>C | CA348406497 | PROC | c.1264T>C (p.Trp422Arg) c.588T>C c.1366T>C (p.Trp456Arg) c.1447T>C (p.Trp483Arg) c.1429T>C (p.Trp477Arg) c.1327T>C (p.Trp443Arg) n.1332-560A>G c.1507T>C (p.Trp503Arg) c.1609T>C (p.Trp537Arg) c.1549T>C (p.Trp517Arg) n.3607-560A>G n.4043-560A>G c.1432T>C (p.Trp478Arg) c.1450T>C (p.Trp484Arg) c.1207T>C (p.Trp403Arg) c.1240T>C (p.Trp414Arg) c.1258T>C (p.Trp420Arg) | |
2 | g.127428824T>G | CA348406498 | PROC | c.1264T>G (p.Trp422Gly) c.588T>G c.1366T>G (p.Trp456Gly) c.1447T>G (p.Trp483Gly) c.1429T>G (p.Trp477Gly) c.1327T>G (p.Trp443Gly) n.1332-560A>C c.1507T>G (p.Trp503Gly) c.1609T>G (p.Trp537Gly) c.1549T>G (p.Trp517Gly) n.3607-560A>C n.4043-560A>C c.1432T>G (p.Trp478Gly) c.1450T>G (p.Trp484Gly) c.1207T>G (p.Trp403Gly) c.1240T>G (p.Trp414Gly) c.1258T>G (p.Trp420Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428824T= | CA1286884668 | PROC | c.1264T= (p.Trp422=) c.588T= c.1366T= (p.Trp456=) c.1447T= (p.Trp483=) c.1429T= (p.Trp477=) c.1327T= (p.Trp443=) n.1332-560A= c.1507T= (p.Trp503=) c.1609T= (p.Trp537=) c.1549T= (p.Trp517=) n.3607-560A= n.4043-560A= c.1432T= (p.Trp478=) c.1450T= (p.Trp484=) c.1207T= (p.Trp403=) c.1240T= (p.Trp414=) c.1258T= (p.Trp420=) | |
2 | g.127428824_127428825delinsTG | CA1286884669 | PROC | c.1264_1265delinsTG (p.Trp422=) c.588_589delinsTG c.1366_1367delinsTG (p.Trp456=) c.1447_1448delinsTG (p.Trp483=) c.1429_1430delinsTG (p.Trp477=) c.1327_1328delinsTG (p.Trp443=) n.1332-561_1332-560delinsCA c.1507_1508delinsTG (p.Trp503=) c.1609_1610delinsTG (p.Trp537=) c.1549_1550delinsTG (p.Trp517=) n.3607-561_3607-560delinsCA n.4043-561_4043-560delinsCA c.1432_1433delinsTG (p.Trp478=) c.1450_1451delinsTG (p.Trp484=) c.1207_1208delinsTG (p.Trp403=) c.1240_1241delinsTG (p.Trp414=) c.1258_1259delinsTG (p.Trp420=) | |
2 | g.127428825G>A | CA348406501 | PROC | c.1265G>A (p.Trp422Ter) c.589G>A c.1367G>A (p.Trp456Ter) c.1448G>A (p.Trp483Ter) c.1430G>A (p.Trp477Ter) c.1328G>A (p.Trp443Ter) n.1332-561C>T c.1508G>A (p.Trp503Ter) c.1610G>A (p.Trp537Ter) c.1550G>A (p.Trp517Ter) n.3607-561C>T n.4043-561C>T c.1433G>A (p.Trp478Ter) c.1451G>A (p.Trp484Ter) c.1208G>A (p.Trp403Ter) c.1241G>A (p.Trp414Ter) c.1259G>A (p.Trp420Ter) | ClinVar |
2 | g.127428825G>C | CA348406503 | PROC | c.1265G>C (p.Trp422Ser) c.589G>C c.1367G>C (p.Trp456Ser) c.1448G>C (p.Trp483Ser) c.1430G>C (p.Trp477Ser) c.1328G>C (p.Trp443Ser) n.1332-561C>G c.1508G>C (p.Trp503Ser) c.1610G>C (p.Trp537Ser) c.1550G>C (p.Trp517Ser) n.3607-561C>G n.4043-561C>G c.1433G>C (p.Trp478Ser) c.1451G>C (p.Trp484Ser) c.1208G>C (p.Trp403Ser) c.1241G>C (p.Trp414Ser) c.1259G>C (p.Trp420Ser) | |
2 | g.127428825G>T | CA348406504 | PROC | c.1265G>T (p.Trp422Leu) c.589G>T c.1367G>T (p.Trp456Leu) c.1448G>T (p.Trp483Leu) c.1430G>T (p.Trp477Leu) c.1328G>T (p.Trp443Leu) n.1332-561C>A c.1508G>T (p.Trp503Leu) c.1610G>T (p.Trp537Leu) c.1550G>T (p.Trp517Leu) n.3607-561C>A n.4043-561C>A c.1433G>T (p.Trp478Leu) c.1451G>T (p.Trp484Leu) c.1208G>T (p.Trp403Leu) c.1241G>T (p.Trp414Leu) c.1259G>T (p.Trp420Leu) | |
2 | g.127428828del | CA1286884670 | PROC | c.1268del (p.Gly423ValfsTer?) c.592del c.1370del (p.Gly457ValfsTer?) c.1451del (p.Gly484ValfsTer?) c.1433del (p.Gly478ValfsTer?) c.1331del (p.Gly444ValfsTer?) n.1332-561del c.1511del (p.Gly504ValfsTer?) c.1613del (p.Gly538ValfsTer?) c.1553del (p.Gly518ValfsTer?) n.3607-561del n.4043-561del c.1436del (p.Gly479ValfsTer?) c.1454del (p.Gly485ValfsTer?) c.1211del (p.Gly404ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1262del (p.Gly421ValfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.127428826G>A | CA348406507 | PROC | c.1266G>A (p.Trp422Ter) c.590G>A c.1368G>A (p.Trp456Ter) c.1449G>A (p.Trp483Ter) c.1431G>A (p.Trp477Ter) c.1329G>A (p.Trp443Ter) n.1332-562C>T c.1509G>A (p.Trp503Ter) c.1611G>A (p.Trp537Ter) c.1551G>A (p.Trp517Ter) n.3607-562C>T n.4043-562C>T c.1434G>A (p.Trp478Ter) c.1452G>A (p.Trp484Ter) c.1209G>A (p.Trp403Ter) c.1242G>A (p.Trp414Ter) c.1260G>A (p.Trp420Ter) | ClinVar dbSNP |
2 | g.127428826G>C | CA348406509 | PROC | c.1266G>C (p.Trp422Cys) c.590G>C c.1368G>C (p.Trp456Cys) c.1449G>C (p.Trp483Cys) c.1431G>C (p.Trp477Cys) c.1329G>C (p.Trp443Cys) n.1332-562C>G c.1509G>C (p.Trp503Cys) c.1611G>C (p.Trp537Cys) c.1551G>C (p.Trp517Cys) n.3607-562C>G n.4043-562C>G c.1434G>C (p.Trp478Cys) c.1452G>C (p.Trp484Cys) c.1209G>C (p.Trp403Cys) c.1242G>C (p.Trp414Cys) c.1260G>C (p.Trp420Cys) | |
2 | g.127428826G>T | CA348406510 | PROC | c.1266G>T (p.Trp422Cys) c.590G>T c.1368G>T (p.Trp456Cys) c.1449G>T (p.Trp483Cys) c.1431G>T (p.Trp477Cys) c.1329G>T (p.Trp443Cys) n.1332-562C>A c.1509G>T (p.Trp503Cys) c.1611G>T (p.Trp537Cys) c.1551G>T (p.Trp517Cys) n.3607-562C>A n.4043-562C>A c.1434G>T (p.Trp478Cys) c.1452G>T (p.Trp484Cys) c.1209G>T (p.Trp403Cys) c.1242G>T (p.Trp414Cys) c.1260G>T (p.Trp420Cys) | |
2 | g.127428827G>A | CA348406513 | PROC | c.1267G>A (p.Gly423Ser) c.591G>A c.1369G>A (p.Gly457Ser) c.1450G>A (p.Gly484Ser) c.1432G>A (p.Gly478Ser) c.1330G>A (p.Gly444Ser) n.1332-563C>T c.1510G>A (p.Gly504Ser) c.1612G>A (p.Gly538Ser) c.1552G>A (p.Gly518Ser) n.3607-563C>T n.4043-563C>T c.1435G>A (p.Gly479Ser) c.1453G>A (p.Gly485Ser) c.1210G>A (p.Gly404Ser) c.1243G>A (p.Gly415Ser) c.1261G>A (p.Gly421Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.127428827G>C | CA348406514 | PROC | c.1267G>C (p.Gly423Arg) c.591G>C c.1369G>C (p.Gly457Arg) c.1450G>C (p.Gly484Arg) c.1432G>C (p.Gly478Arg) c.1330G>C (p.Gly444Arg) n.1332-563C>G c.1510G>C (p.Gly504Arg) c.1612G>C (p.Gly538Arg) c.1552G>C (p.Gly518Arg) n.3607-563C>G n.4043-563C>G c.1435G>C (p.Gly479Arg) c.1453G>C (p.Gly485Arg) c.1210G>C (p.Gly404Arg) c.1243G>C (p.Gly415Arg) c.1261G>C (p.Gly421Arg) | |
2 | g.127428827G= | CA1286884671 | PROC | c.1267G= (p.Gly423=) c.591G= c.1369G= (p.Gly457=) c.1450G= (p.Gly484=) c.1432G= (p.Gly478=) c.1330G= (p.Gly444=) n.1332-563C= c.1510G= (p.Gly504=) c.1612G= (p.Gly538=) c.1552G= (p.Gly518=) n.3607-563C= n.4043-563C= c.1435G= (p.Gly479=) c.1453G= (p.Gly485=) c.1210G= (p.Gly404=) c.1243G= (p.Gly415=) c.1261G= (p.Gly421=) | |
2 | g.127428827G>T | CA348406516 | PROC | c.1267G>T (p.Gly423Cys) c.591G>T c.1369G>T (p.Gly457Cys) c.1450G>T (p.Gly484Cys) c.1432G>T (p.Gly478Cys) c.1330G>T (p.Gly444Cys) n.1332-563C>A c.1510G>T (p.Gly504Cys) c.1612G>T (p.Gly538Cys) c.1552G>T (p.Gly518Cys) n.3607-563C>A n.4043-563C>A c.1435G>T (p.Gly479Cys) c.1453G>T (p.Gly485Cys) c.1210G>T (p.Gly404Cys) c.1243G>T (p.Gly415Cys) c.1261G>T (p.Gly421Cys) | |
2 | g.127428828G>A | CA348406520 | PROC | c.1268G>A (p.Gly423Asp) c.592G>A c.1370G>A (p.Gly457Asp) c.1451G>A (p.Gly484Asp) c.1433G>A (p.Gly478Asp) c.1331G>A (p.Gly444Asp) n.1332-564C>T c.1511G>A (p.Gly504Asp) c.1613G>A (p.Gly538Asp) c.1553G>A (p.Gly518Asp) n.3607-564C>T n.4043-564C>T c.1436G>A (p.Gly479Asp) c.1454G>A (p.Gly485Asp) c.1211G>A (p.Gly404Asp) c.1244G>A (p.Gly415Asp) c.1262G>A (p.Gly421Asp) | gnomAD v4 |
2 | g.127428828G>C | CA348406522 | PROC | c.1268G>C (p.Gly423Ala) c.592G>C c.1370G>C (p.Gly457Ala) c.1451G>C (p.Gly484Ala) c.1433G>C (p.Gly478Ala) c.1331G>C (p.Gly444Ala) n.1332-564C>G c.1511G>C (p.Gly504Ala) c.1613G>C (p.Gly538Ala) c.1553G>C (p.Gly518Ala) n.3607-564C>G n.4043-564C>G c.1436G>C (p.Gly479Ala) c.1454G>C (p.Gly485Ala) c.1211G>C (p.Gly404Ala) c.1244G>C (p.Gly415Ala) c.1262G>C (p.Gly421Ala) | |
2 | g.127428828G>T | CA348406519 | PROC | c.1268G>T (p.Gly423Val) c.592G>T c.1370G>T (p.Gly457Val) c.1451G>T (p.Gly484Val) c.1433G>T (p.Gly478Val) c.1331G>T (p.Gly444Val) n.1332-564C>A c.1511G>T (p.Gly504Val) c.1613G>T (p.Gly538Val) c.1553G>T (p.Gly518Val) n.3607-564C>A n.4043-564C>A c.1436G>T (p.Gly479Val) c.1454G>T (p.Gly485Val) c.1211G>T (p.Gly404Val) c.1244G>T (p.Gly415Val) c.1262G>T (p.Gly421Val) | |
2 | g.127428829T>A | CA428872869 | PROC | c.1269T>A (p.Gly423=) c.593T>A c.1371T>A (p.Gly457=) c.1452T>A (p.Gly484=) c.1434T>A (p.Gly478=) c.1332T>A (p.Gly444=) n.1332-565A>T c.1512T>A (p.Gly504=) c.1614T>A (p.Gly538=) c.1554T>A (p.Gly518=) n.3607-565A>T n.4043-565A>T c.1437T>A (p.Gly479=) c.1455T>A (p.Gly485=) c.1212T>A (p.Gly404=) c.1245T>A (p.Gly415=) c.1263T>A (p.Gly421=) | |
2 | g.127428829T>C | CA428872875 | PROC | c.1269T>C (p.Gly423=) c.593T>C c.1371T>C (p.Gly457=) c.1452T>C (p.Gly484=) c.1434T>C (p.Gly478=) c.1332T>C (p.Gly444=) n.1332-565A>G c.1512T>C (p.Gly504=) c.1614T>C (p.Gly538=) c.1554T>C (p.Gly518=) n.3607-565A>G n.4043-565A>G c.1437T>C (p.Gly479=) c.1455T>C (p.Gly485=) c.1212T>C (p.Gly404=) c.1245T>C (p.Gly415=) c.1263T>C (p.Gly421=) | |
2 | g.127428829T>G | CA428872872 | PROC | c.1269T>G (p.Gly423=) c.593T>G c.1371T>G (p.Gly457=) c.1452T>G (p.Gly484=) c.1434T>G (p.Gly478=) c.1332T>G (p.Gly444=) n.1332-565A>C c.1512T>G (p.Gly504=) c.1614T>G (p.Gly538=) c.1554T>G (p.Gly518=) n.3607-565A>C n.4043-565A>C c.1437T>G (p.Gly479=) c.1455T>G (p.Gly485=) c.1212T>G (p.Gly404=) c.1245T>G (p.Gly415=) c.1263T>G (p.Gly421=) | |
2 | g.127428830G>A | CA348406528 | PROC | c.1270G>A (p.Glu424Lys) c.594G>A c.1372G>A (p.Glu458Lys) c.1453G>A (p.Glu485Lys) c.1435G>A (p.Glu479Lys) c.1333G>A (p.Glu445Lys) n.1332-566C>T c.1513G>A (p.Glu505Lys) c.1615G>A (p.Glu539Lys) c.1555G>A (p.Glu519Lys) n.3607-566C>T n.4043-566C>T c.1438G>A (p.Glu480Lys) c.1456G>A (p.Glu486Lys) c.1213G>A (p.Glu405Lys) c.1246G>A (p.Glu416Lys) c.1264G>A (p.Glu422Lys) | |
2 | g.127428830G>C | CA348406525 | PROC | c.1270G>C (p.Glu424Gln) c.594G>C c.1372G>C (p.Glu458Gln) c.1453G>C (p.Glu485Gln) c.1435G>C (p.Glu479Gln) c.1333G>C (p.Glu445Gln) n.1332-566C>G c.1513G>C (p.Glu505Gln) c.1615G>C (p.Glu539Gln) c.1555G>C (p.Glu519Gln) n.3607-566C>G n.4043-566C>G c.1438G>C (p.Glu480Gln) c.1456G>C (p.Glu486Gln) c.1213G>C (p.Glu405Gln) c.1246G>C (p.Glu416Gln) c.1264G>C (p.Glu422Gln) | |
2 | g.127428830G>T | CA348406526 | PROC | c.1270G>T (p.Glu424Ter) c.594G>T c.1372G>T (p.Glu458Ter) c.1453G>T (p.Glu485Ter) c.1435G>T (p.Glu479Ter) c.1333G>T (p.Glu445Ter) n.1332-566C>A c.1513G>T (p.Glu505Ter) c.1615G>T (p.Glu539Ter) c.1555G>T (p.Glu519Ter) n.3607-566C>A n.4043-566C>A c.1438G>T (p.Glu480Ter) c.1456G>T (p.Glu486Ter) c.1213G>T (p.Glu405Ter) c.1246G>T (p.Glu416Ter) c.1264G>T (p.Glu422Ter) | |
2 | g.127428831A= | CA1286884672 | PROC | c.1271A= (p.Glu424=) c.595A= c.1373A= (p.Glu458=) c.1454A= (p.Glu485=) c.1436A= (p.Glu479=) c.1334A= (p.Glu445=) n.1332-567T= c.1514A= (p.Glu505=) c.1616A= (p.Glu539=) c.1556A= (p.Glu519=) n.3607-567T= n.4043-567T= c.1439A= (p.Glu480=) c.1457A= (p.Glu486=) c.1214A= (p.Glu405=) c.1247A= (p.Glu416=) c.1265A= (p.Glu422=) | |
2 | g.127428831A>C | CA348406530 | PROC | c.1271A>C (p.Glu424Ala) c.595A>C c.1373A>C (p.Glu458Ala) c.1454A>C (p.Glu485Ala) c.1436A>C (p.Glu479Ala) c.1334A>C (p.Glu445Ala) n.1332-567T>G c.1514A>C (p.Glu505Ala) c.1616A>C (p.Glu539Ala) c.1556A>C (p.Glu519Ala) n.3607-567T>G n.4043-567T>G c.1439A>C (p.Glu480Ala) c.1457A>C (p.Glu486Ala) c.1214A>C (p.Glu405Ala) c.1247A>C (p.Glu416Ala) c.1265A>C (p.Glu422Ala) | |
2 | g.127428831A>G | CA348406532 | PROC | c.1271A>G (p.Glu424Gly) c.595A>G c.1373A>G (p.Glu458Gly) c.1454A>G (p.Glu485Gly) c.1436A>G (p.Glu479Gly) c.1334A>G (p.Glu445Gly) n.1332-567T>C c.1514A>G (p.Glu505Gly) c.1616A>G (p.Glu539Gly) c.1556A>G (p.Glu519Gly) n.3607-567T>C n.4043-567T>C c.1439A>G (p.Glu480Gly) c.1457A>G (p.Glu486Gly) c.1214A>G (p.Glu405Gly) c.1247A>G (p.Glu416Gly) c.1265A>G (p.Glu422Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428831A>T | CA348406534 | PROC | c.1271A>T (p.Glu424Val) c.595A>T c.1373A>T (p.Glu458Val) c.1454A>T (p.Glu485Val) c.1436A>T (p.Glu479Val) c.1334A>T (p.Glu445Val) n.1332-567T>A c.1514A>T (p.Glu505Val) c.1616A>T (p.Glu539Val) c.1556A>T (p.Glu519Val) n.3607-567T>A n.4043-567T>A c.1439A>T (p.Glu480Val) c.1457A>T (p.Glu486Val) c.1214A>T (p.Glu405Val) c.1247A>T (p.Glu416Val) c.1265A>T (p.Glu422Val) | |
2 | g.127428832G>A | CA1859559 | PROC | c.1272G>A (p.Glu424=) c.596G>A c.1374G>A (p.Glu458=) c.1455G>A (p.Glu485=) c.1437G>A (p.Glu479=) c.1335G>A (p.Glu445=) n.1332-568C>T c.1515G>A (p.Glu505=) c.1617G>A (p.Glu539=) c.1557G>A (p.Glu519=) n.3607-568C>T n.4043-568C>T c.1440G>A (p.Glu480=) c.1458G>A (p.Glu486=) c.1215G>A (p.Glu405=) c.1248G>A (p.Glu416=) c.1266G>A (p.Glu422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428832G>C | CA348406536 | PROC | c.1272G>C (p.Glu424Asp) c.596G>C c.1374G>C (p.Glu458Asp) c.1455G>C (p.Glu485Asp) c.1437G>C (p.Glu479Asp) c.1335G>C (p.Glu445Asp) n.1332-568C>G c.1515G>C (p.Glu505Asp) c.1617G>C (p.Glu539Asp) c.1557G>C (p.Glu519Asp) n.3607-568C>G n.4043-568C>G c.1440G>C (p.Glu480Asp) c.1458G>C (p.Glu486Asp) c.1215G>C (p.Glu405Asp) c.1248G>C (p.Glu416Asp) c.1266G>C (p.Glu422Asp) | |
2 | g.127428832G= | CA1286884673 | PROC | c.1272G= (p.Glu424=) c.596G= c.1374G= (p.Glu458=) c.1455G= (p.Glu485=) c.1437G= (p.Glu479=) c.1335G= (p.Glu445=) n.1332-568C= c.1515G= (p.Glu505=) c.1617G= (p.Glu539=) c.1557G= (p.Glu519=) n.3607-568C= n.4043-568C= c.1440G= (p.Glu480=) c.1458G= (p.Glu486=) c.1215G= (p.Glu405=) c.1248G= (p.Glu416=) c.1266G= (p.Glu422=) | |
2 | g.127428832G>T | CA348406535 | PROC | c.1272G>T (p.Glu424Asp) c.596G>T c.1374G>T (p.Glu458Asp) c.1455G>T (p.Glu485Asp) c.1437G>T (p.Glu479Asp) c.1335G>T (p.Glu445Asp) n.1332-568C>A c.1515G>T (p.Glu505Asp) c.1617G>T (p.Glu539Asp) c.1557G>T (p.Glu519Asp) n.3607-568C>A n.4043-568C>A c.1440G>T (p.Glu480Asp) c.1458G>T (p.Glu486Asp) c.1215G>T (p.Glu405Asp) c.1248G>T (p.Glu416Asp) c.1266G>T (p.Glu422Asp) | |
2 | g.127428833G>A | CA348406540 | PROC | c.1273G>A (p.Gly425Ser) c.597G>A c.1375G>A (p.Gly459Ser) c.1456G>A (p.Gly486Ser) c.1438G>A (p.Gly480Ser) c.1336G>A (p.Gly446Ser) n.1332-569C>T c.1516G>A (p.Gly506Ser) c.1618G>A (p.Gly540Ser) c.1558G>A (p.Gly520Ser) n.3607-569C>T n.4043-569C>T c.1441G>A (p.Gly481Ser) c.1459G>A (p.Gly487Ser) c.1216G>A (p.Gly406Ser) c.1249G>A (p.Gly417Ser) c.1267G>A (p.Gly423Ser) | |
2 | g.127428833G>C | CA348406541 | PROC | c.1273G>C (p.Gly425Arg) c.597G>C c.1375G>C (p.Gly459Arg) c.1456G>C (p.Gly486Arg) c.1438G>C (p.Gly480Arg) c.1336G>C (p.Gly446Arg) n.1332-569C>G c.1516G>C (p.Gly506Arg) c.1618G>C (p.Gly540Arg) c.1558G>C (p.Gly520Arg) n.3607-569C>G n.4043-569C>G c.1441G>C (p.Gly481Arg) c.1459G>C (p.Gly487Arg) c.1216G>C (p.Gly406Arg) c.1249G>C (p.Gly417Arg) c.1267G>C (p.Gly423Arg) | |
2 | g.127428833G>T | CA348406543 | PROC | c.1273G>T (p.Gly425Cys) c.597G>T c.1375G>T (p.Gly459Cys) c.1456G>T (p.Gly486Cys) c.1438G>T (p.Gly480Cys) c.1336G>T (p.Gly446Cys) n.1332-569C>A c.1516G>T (p.Gly506Cys) c.1618G>T (p.Gly540Cys) c.1558G>T (p.Gly520Cys) n.3607-569C>A n.4043-569C>A c.1441G>T (p.Gly481Cys) c.1459G>T (p.Gly487Cys) c.1216G>T (p.Gly406Cys) c.1249G>T (p.Gly417Cys) c.1267G>T (p.Gly423Cys) | gnomAD v4 |
2 | g.127428834G>A | CA348406545 | PROC | c.1274G>A (p.Gly425Asp) c.598G>A c.1376G>A (p.Gly459Asp) c.1457G>A (p.Gly486Asp) c.1439G>A (p.Gly480Asp) c.1337G>A (p.Gly446Asp) n.1332-570C>T c.1517G>A (p.Gly506Asp) c.1619G>A (p.Gly540Asp) c.1559G>A (p.Gly520Asp) n.3607-570C>T n.4043-570C>T c.1442G>A (p.Gly481Asp) c.1460G>A (p.Gly487Asp) c.1217G>A (p.Gly406Asp) c.1250G>A (p.Gly417Asp) c.1268G>A (p.Gly423Asp) | |
2 | g.127428834G>C | CA348406547 | PROC | c.1274G>C (p.Gly425Ala) c.598G>C c.1376G>C (p.Gly459Ala) c.1457G>C (p.Gly486Ala) c.1439G>C (p.Gly480Ala) c.1337G>C (p.Gly446Ala) n.1332-570C>G c.1517G>C (p.Gly506Ala) c.1619G>C (p.Gly540Ala) c.1559G>C (p.Gly520Ala) n.3607-570C>G n.4043-570C>G c.1442G>C (p.Gly481Ala) c.1460G>C (p.Gly487Ala) c.1217G>C (p.Gly406Ala) c.1250G>C (p.Gly417Ala) c.1268G>C (p.Gly423Ala) | |
2 | g.127428834G>T | CA348406549 | PROC | c.1274G>T (p.Gly425Val) c.598G>T c.1376G>T (p.Gly459Val) c.1457G>T (p.Gly486Val) c.1439G>T (p.Gly480Val) c.1337G>T (p.Gly446Val) n.1332-570C>A c.1517G>T (p.Gly506Val) c.1619G>T (p.Gly540Val) c.1559G>T (p.Gly520Val) n.3607-570C>A n.4043-570C>A c.1442G>T (p.Gly481Val) c.1460G>T (p.Gly487Val) c.1217G>T (p.Gly406Val) c.1250G>T (p.Gly417Val) c.1268G>T (p.Gly423Val) | |
2 | g.127428835C>A | CA428872913 | PROC | c.1275C>A (p.Gly425=) c.599C>A c.1377C>A (p.Gly459=) c.1458C>A (p.Gly486=) c.1440C>A (p.Gly480=) c.1338C>A (p.Gly446=) n.1332-571G>T c.1518C>A (p.Gly506=) c.1620C>A (p.Gly540=) c.1560C>A (p.Gly520=) n.3607-571G>T n.4043-571G>T c.1443C>A (p.Gly481=) c.1461C>A (p.Gly487=) c.1218C>A (p.Gly406=) c.1251C>A (p.Gly417=) c.1269C>A (p.Gly423=) | |
2 | g.127428835C>G | CA428872916 | PROC | c.1275C>G (p.Gly425=) c.599C>G c.1377C>G (p.Gly459=) c.1458C>G (p.Gly486=) c.1440C>G (p.Gly480=) c.1338C>G (p.Gly446=) n.1332-571G>C c.1518C>G (p.Gly506=) c.1620C>G (p.Gly540=) c.1560C>G (p.Gly520=) n.3607-571G>C n.4043-571G>C c.1443C>G (p.Gly481=) c.1461C>G (p.Gly487=) c.1218C>G (p.Gly406=) c.1251C>G (p.Gly417=) c.1269C>G (p.Gly423=) | gnomAD v4 |
2 | g.127428835C>T | CA428872918 | PROC | c.1275C>T (p.Gly425=) c.599C>T c.1377C>T (p.Gly459=) c.1458C>T (p.Gly486=) c.1440C>T (p.Gly480=) c.1338C>T (p.Gly446=) n.1332-571G>A c.1518C>T (p.Gly506=) c.1620C>T (p.Gly540=) c.1560C>T (p.Gly520=) n.3607-571G>A n.4043-571G>A c.1443C>T (p.Gly481=) c.1461C>T (p.Gly487=) c.1218C>T (p.Gly406=) c.1251C>T (p.Gly417=) c.1269C>T (p.Gly423=) | |
2 | g.127428836_127428844del | CA2660997782 | PROC | c.1276_1284del (p.Cys426_Leu428del) c.600_608del c.1378_1386del (p.Cys460_Leu462del) c.1459_1467del (p.Cys487_Leu489del) c.1441_1449del (p.Cys481_Leu483del) c.1339_1347del (p.Cys447_Leu449del) n.1332-579_1332-571del c.1519_1527del (p.Cys507_Leu509del) c.1621_1629del (p.Cys541_Leu543del) c.1561_1569del (p.Cys521_Leu523del) n.3607-579_3607-571del n.4043-579_4043-571del c.1444_1452del (p.Cys482_Leu484del) c.1462_1470del (p.Cys488_Leu490del) c.1219_1227del (p.Cys407_Leu409del) c.1252_1260del (p.Cys418_Leu420del) c.1270_1278del (p.Cys424_Leu426del) | gnomAD v4 |
2 | g.127428836T>A | CA348406551 | PROC | c.1276T>A (p.Cys426Ser) c.600T>A c.1378T>A (p.Cys460Ser) c.1459T>A (p.Cys487Ser) c.1441T>A (p.Cys481Ser) c.1339T>A (p.Cys447Ser) n.1332-572A>T c.1519T>A (p.Cys507Ser) c.1621T>A (p.Cys541Ser) c.1561T>A (p.Cys521Ser) n.3607-572A>T n.4043-572A>T c.1444T>A (p.Cys482Ser) c.1462T>A (p.Cys488Ser) c.1219T>A (p.Cys407Ser) c.1252T>A (p.Cys418Ser) c.1270T>A (p.Cys424Ser) | |
2 | g.127428836T>C | CA348406556 | PROC | c.1276T>C (p.Cys426Arg) c.600T>C c.1378T>C (p.Cys460Arg) c.1459T>C (p.Cys487Arg) c.1441T>C (p.Cys481Arg) c.1339T>C (p.Cys447Arg) n.1332-572A>G c.1519T>C (p.Cys507Arg) c.1621T>C (p.Cys541Arg) c.1561T>C (p.Cys521Arg) n.3607-572A>G n.4043-572A>G c.1444T>C (p.Cys482Arg) c.1462T>C (p.Cys488Arg) c.1219T>C (p.Cys407Arg) c.1252T>C (p.Cys418Arg) c.1270T>C (p.Cys424Arg) | gnomAD v4 |
2 | g.127428836T>G | CA348406553 | PROC | c.1276T>G (p.Cys426Gly) c.600T>G c.1378T>G (p.Cys460Gly) c.1459T>G (p.Cys487Gly) c.1441T>G (p.Cys481Gly) c.1339T>G (p.Cys447Gly) n.1332-572A>C c.1519T>G (p.Cys507Gly) c.1621T>G (p.Cys541Gly) c.1561T>G (p.Cys521Gly) n.3607-572A>C n.4043-572A>C c.1444T>G (p.Cys482Gly) c.1462T>G (p.Cys488Gly) c.1219T>G (p.Cys407Gly) c.1252T>G (p.Cys418Gly) c.1270T>G (p.Cys424Gly) | |
2 | g.127428837G>A | CA348406558 | PROC | c.1277G>A (p.Cys426Tyr) c.601G>A c.1379G>A (p.Cys460Tyr) c.1460G>A (p.Cys487Tyr) c.1442G>A (p.Cys481Tyr) c.1340G>A (p.Cys447Tyr) n.1332-573C>T c.1520G>A (p.Cys507Tyr) c.1622G>A (p.Cys541Tyr) c.1562G>A (p.Cys521Tyr) n.3607-573C>T n.4043-573C>T c.1445G>A (p.Cys482Tyr) c.1463G>A (p.Cys488Tyr) c.1220G>A (p.Cys407Tyr) c.1253G>A (p.Cys418Tyr) c.1271G>A (p.Cys424Tyr) | ClinVar dbSNP |
2 | g.127428837G>C | CA348406559 | PROC | c.1277G>C (p.Cys426Ser) c.601G>C c.1379G>C (p.Cys460Ser) c.1460G>C (p.Cys487Ser) c.1442G>C (p.Cys481Ser) c.1340G>C (p.Cys447Ser) n.1332-573C>G c.1520G>C (p.Cys507Ser) c.1622G>C (p.Cys541Ser) c.1562G>C (p.Cys521Ser) n.3607-573C>G n.4043-573C>G c.1445G>C (p.Cys482Ser) c.1463G>C (p.Cys488Ser) c.1220G>C (p.Cys407Ser) c.1253G>C (p.Cys418Ser) c.1271G>C (p.Cys424Ser) | |
2 | g.127428837G= | CA1286884674 | PROC | c.1277G= (p.Cys426=) c.601G= c.1379G= (p.Cys460=) c.1460G= (p.Cys487=) c.1442G= (p.Cys481=) c.1340G= (p.Cys447=) n.1332-573C= c.1520G= (p.Cys507=) c.1622G= (p.Cys541=) c.1562G= (p.Cys521=) n.3607-573C= n.4043-573C= c.1445G= (p.Cys482=) c.1463G= (p.Cys488=) c.1220G= (p.Cys407=) c.1253G= (p.Cys418=) c.1271G= (p.Cys424=) | |
2 | g.127428837G>T | CA348406561 | PROC | c.1277G>T (p.Cys426Phe) c.601G>T c.1379G>T (p.Cys460Phe) c.1460G>T (p.Cys487Phe) c.1442G>T (p.Cys481Phe) c.1340G>T (p.Cys447Phe) n.1332-573C>A c.1520G>T (p.Cys507Phe) c.1622G>T (p.Cys541Phe) c.1562G>T (p.Cys521Phe) n.3607-573C>A n.4043-573C>A c.1445G>T (p.Cys482Phe) c.1463G>T (p.Cys488Phe) c.1220G>T (p.Cys407Phe) c.1253G>T (p.Cys418Phe) c.1271G>T (p.Cys424Phe) | |
2 | g.127428838T>A | CA348406563 | PROC | c.1278T>A (p.Cys426Ter) c.602T>A c.1380T>A (p.Cys460Ter) c.1461T>A (p.Cys487Ter) c.1443T>A (p.Cys481Ter) c.1341T>A (p.Cys447Ter) n.1332-574A>T c.1521T>A (p.Cys507Ter) c.1623T>A (p.Cys541Ter) c.1563T>A (p.Cys521Ter) n.3607-574A>T n.4043-574A>T c.1446T>A (p.Cys482Ter) c.1464T>A (p.Cys488Ter) c.1221T>A (p.Cys407Ter) c.1254T>A (p.Cys418Ter) c.1272T>A (p.Cys424Ter) | |
2 | g.127428838T>C | CA428872938 | PROC | c.1278T>C (p.Cys426=) c.602T>C c.1380T>C (p.Cys460=) c.1461T>C (p.Cys487=) c.1443T>C (p.Cys481=) c.1341T>C (p.Cys447=) n.1332-574A>G c.1521T>C (p.Cys507=) c.1623T>C (p.Cys541=) c.1563T>C (p.Cys521=) n.3607-574A>G n.4043-574A>G c.1446T>C (p.Cys482=) c.1464T>C (p.Cys488=) c.1221T>C (p.Cys407=) c.1254T>C (p.Cys418=) c.1272T>C (p.Cys424=) | ClinVar dbSNP gnomAD v4 |
2 | g.127428838T>G | CA348406564 | PROC | c.1278T>G (p.Cys426Trp) c.602T>G c.1380T>G (p.Cys460Trp) c.1461T>G (p.Cys487Trp) c.1443T>G (p.Cys481Trp) c.1341T>G (p.Cys447Trp) n.1332-574A>C c.1521T>G (p.Cys507Trp) c.1623T>G (p.Cys541Trp) c.1563T>G (p.Cys521Trp) n.3607-574A>C n.4043-574A>C c.1446T>G (p.Cys482Trp) c.1464T>G (p.Cys488Trp) c.1221T>G (p.Cys407Trp) c.1254T>G (p.Cys418Trp) c.1272T>G (p.Cys424Trp) | |
2 | g.127428839G>A | CA348406568 | PROC | c.1279G>A (p.Gly427Arg) c.603G>A c.1381G>A (p.Gly461Arg) c.1462G>A (p.Gly488Arg) c.1444G>A (p.Gly482Arg) c.1342G>A (p.Gly448Arg) n.1332-575C>T c.1522G>A (p.Gly508Arg) c.1624G>A (p.Gly542Arg) c.1564G>A (p.Gly522Arg) n.3607-575C>T n.4043-575C>T c.1447G>A (p.Gly483Arg) c.1465G>A (p.Gly489Arg) c.1222G>A (p.Gly408Arg) c.1255G>A (p.Gly419Arg) c.1273G>A (p.Gly425Arg) | |
2 | g.127428839G>C | CA348406569 | PROC | c.1279G>C (p.Gly427Arg) c.603G>C c.1381G>C (p.Gly461Arg) c.1462G>C (p.Gly488Arg) c.1444G>C (p.Gly482Arg) c.1342G>C (p.Gly448Arg) n.1332-575C>G c.1522G>C (p.Gly508Arg) c.1624G>C (p.Gly542Arg) c.1564G>C (p.Gly522Arg) n.3607-575C>G n.4043-575C>G c.1447G>C (p.Gly483Arg) c.1465G>C (p.Gly489Arg) c.1222G>C (p.Gly408Arg) c.1255G>C (p.Gly419Arg) c.1273G>C (p.Gly425Arg) | |
2 | g.127428839G>T | CA348406570 | PROC | c.1279G>T (p.Gly427Trp) c.603G>T c.1381G>T (p.Gly461Trp) c.1462G>T (p.Gly488Trp) c.1444G>T (p.Gly482Trp) c.1342G>T (p.Gly448Trp) n.1332-575C>A c.1522G>T (p.Gly508Trp) c.1624G>T (p.Gly542Trp) c.1564G>T (p.Gly522Trp) n.3607-575C>A n.4043-575C>A c.1447G>T (p.Gly483Trp) c.1465G>T (p.Gly489Trp) c.1222G>T (p.Gly408Trp) c.1255G>T (p.Gly419Trp) c.1273G>T (p.Gly425Trp) | |
2 | g.127428840G>A | CA348406571 | PROC | c.1280G>A (p.Gly427Glu) c.604G>A c.1382G>A (p.Gly461Glu) c.1463G>A (p.Gly488Glu) c.1445G>A (p.Gly482Glu) c.1343G>A (p.Gly448Glu) n.1332-576C>T c.1523G>A (p.Gly508Glu) c.1625G>A (p.Gly542Glu) c.1565G>A (p.Gly522Glu) n.3607-576C>T n.4043-576C>T c.1448G>A (p.Gly483Glu) c.1466G>A (p.Gly489Glu) c.1223G>A (p.Gly408Glu) c.1256G>A (p.Gly419Glu) c.1274G>A (p.Gly425Glu) | |
2 | g.127428840G>C | CA348406572 | PROC | c.1280G>C (p.Gly427Ala) c.604G>C c.1382G>C (p.Gly461Ala) c.1463G>C (p.Gly488Ala) c.1445G>C (p.Gly482Ala) c.1343G>C (p.Gly448Ala) n.1332-576C>G c.1523G>C (p.Gly508Ala) c.1625G>C (p.Gly542Ala) c.1565G>C (p.Gly522Ala) n.3607-576C>G n.4043-576C>G c.1448G>C (p.Gly483Ala) c.1466G>C (p.Gly489Ala) c.1223G>C (p.Gly408Ala) c.1256G>C (p.Gly419Ala) c.1274G>C (p.Gly425Ala) | |
2 | g.127428840G>T | CA348406573 | PROC | c.1280G>T (p.Gly427Val) c.604G>T c.1382G>T (p.Gly461Val) c.1463G>T (p.Gly488Val) c.1445G>T (p.Gly482Val) c.1343G>T (p.Gly448Val) n.1332-576C>A c.1523G>T (p.Gly508Val) c.1625G>T (p.Gly542Val) c.1565G>T (p.Gly522Val) n.3607-576C>A n.4043-576C>A c.1448G>T (p.Gly483Val) c.1466G>T (p.Gly489Val) c.1223G>T (p.Gly408Val) c.1256G>T (p.Gly419Val) c.1274G>T (p.Gly425Val) | |
2 | g.127428841G>A | CA428872949 | PROC | c.1281G>A (p.Gly427=) c.605G>A c.1383G>A (p.Gly461=) c.1464G>A (p.Gly488=) c.1446G>A (p.Gly482=) c.1344G>A (p.Gly448=) n.1332-577C>T c.1524G>A (p.Gly508=) c.1626G>A (p.Gly542=) c.1566G>A (p.Gly522=) n.3607-577C>T n.4043-577C>T c.1449G>A (p.Gly483=) c.1467G>A (p.Gly489=) c.1224G>A (p.Gly408=) c.1257G>A (p.Gly419=) c.1275G>A (p.Gly425=) | |
2 | g.127428841G>C | CA428872952 | PROC | c.1281G>C (p.Gly427=) c.605G>C c.1383G>C (p.Gly461=) c.1464G>C (p.Gly488=) c.1446G>C (p.Gly482=) c.1344G>C (p.Gly448=) n.1332-577C>G c.1524G>C (p.Gly508=) c.1626G>C (p.Gly542=) c.1566G>C (p.Gly522=) n.3607-577C>G n.4043-577C>G c.1449G>C (p.Gly483=) c.1467G>C (p.Gly489=) c.1224G>C (p.Gly408=) c.1257G>C (p.Gly419=) c.1275G>C (p.Gly425=) | |
2 | g.127428841G= | CA1286884675 | PROC | c.1281G= (p.Gly427=) c.605G= c.1383G= (p.Gly461=) c.1464G= (p.Gly488=) c.1446G= (p.Gly482=) c.1344G= (p.Gly448=) n.1332-577C= c.1524G= (p.Gly508=) c.1626G= (p.Gly542=) c.1566G= (p.Gly522=) n.3607-577C= n.4043-577C= c.1449G= (p.Gly483=) c.1467G= (p.Gly489=) c.1224G= (p.Gly408=) c.1257G= (p.Gly419=) c.1275G= (p.Gly425=) | |
2 | g.127428841G>T | CA55351460 | PROC | c.1281G>T (p.Gly427=) c.605G>T c.1383G>T (p.Gly461=) c.1464G>T (p.Gly488=) c.1446G>T (p.Gly482=) c.1344G>T (p.Gly448=) n.1332-577C>A c.1524G>T (p.Gly508=) c.1626G>T (p.Gly542=) c.1566G>T (p.Gly522=) n.3607-577C>A n.4043-577C>A c.1449G>T (p.Gly483=) c.1467G>T (p.Gly489=) c.1224G>T (p.Gly408=) c.1257G>T (p.Gly419=) c.1275G>T (p.Gly425=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428842C>A | CA348406576 | PROC | c.1282C>A (p.Leu428Ile) c.606C>A c.1384C>A (p.Leu462Ile) c.1465C>A (p.Leu489Ile) c.1447C>A (p.Leu483Ile) c.1345C>A (p.Leu449Ile) n.1332-578G>T c.1525C>A (p.Leu509Ile) c.1627C>A (p.Leu543Ile) c.1567C>A (p.Leu523Ile) n.3607-578G>T n.4043-578G>T c.1450C>A (p.Leu484Ile) c.1468C>A (p.Leu490Ile) c.1225C>A (p.Leu409Ile) c.1258C>A (p.Leu420Ile) c.1276C>A (p.Leu426Ile) | |
2 | g.127428842C>G | CA348406575 | PROC | c.1282C>G (p.Leu428Val) c.606C>G c.1384C>G (p.Leu462Val) c.1465C>G (p.Leu489Val) c.1447C>G (p.Leu483Val) c.1345C>G (p.Leu449Val) n.1332-578G>C c.1525C>G (p.Leu509Val) c.1627C>G (p.Leu543Val) c.1567C>G (p.Leu523Val) n.3607-578G>C n.4043-578G>C c.1450C>G (p.Leu484Val) c.1468C>G (p.Leu490Val) c.1225C>G (p.Leu409Val) c.1258C>G (p.Leu420Val) c.1276C>G (p.Leu426Val) | |
2 | g.127428842C>T | CA348406574 | PROC | c.1282C>T (p.Leu428Phe) c.606C>T c.1384C>T (p.Leu462Phe) c.1465C>T (p.Leu489Phe) c.1447C>T (p.Leu483Phe) c.1345C>T (p.Leu449Phe) n.1332-578G>A c.1525C>T (p.Leu509Phe) c.1627C>T (p.Leu543Phe) c.1567C>T (p.Leu523Phe) n.3607-578G>A n.4043-578G>A c.1450C>T (p.Leu484Phe) c.1468C>T (p.Leu490Phe) c.1225C>T (p.Leu409Phe) c.1258C>T (p.Leu420Phe) c.1276C>T (p.Leu426Phe) | gnomAD v4 |
2 | g.127428844_127428846dup | CA2660997783 | PROC | c.1284_1286dup (p.Leu429_His430insLeu) c.608_610dup c.1386_1388dup (p.Leu463_His464insLeu) c.1467_1469dup (p.Leu490_His491insLeu) c.1449_1451dup (p.Leu484_His485insLeu) c.1347_1349dup (p.Leu450_His451insLeu) n.1332-580_1332-578dup c.1527_1529dup (p.Leu510_His511insLeu) c.1629_1631dup (p.Leu544_His545insLeu) c.1569_1571dup (p.Leu524_His525insLeu) n.3607-580_3607-578dup n.4043-580_4043-578dup c.1452_1454dup (p.Leu485_His486insLeu) c.1470_1472dup (p.Leu491_His492insLeu) c.1227_1229dup (p.Leu410_His411insLeu) c.1260_1262dup (p.Leu421_His422insLeu) c.1278_1280dup (p.Leu427_His428insLeu) | gnomAD v4 |
2 | g.127428843T>A | CA348406577 | PROC | c.1283T>A (p.Leu428His) c.607T>A c.1385T>A (p.Leu462His) c.1466T>A (p.Leu489His) c.1448T>A (p.Leu483His) c.1346T>A (p.Leu449His) n.1332-579A>T c.1526T>A (p.Leu509His) c.1628T>A (p.Leu543His) c.1568T>A (p.Leu523His) n.3607-579A>T n.4043-579A>T c.1451T>A (p.Leu484His) c.1469T>A (p.Leu490His) c.1226T>A (p.Leu409His) c.1259T>A (p.Leu420His) c.1277T>A (p.Leu426His) | dbSNP |
2 | g.127428843T>C | CA348406578 | PROC | c.1283T>C (p.Leu428Pro) c.607T>C c.1385T>C (p.Leu462Pro) c.1466T>C (p.Leu489Pro) c.1448T>C (p.Leu483Pro) c.1346T>C (p.Leu449Pro) n.1332-579A>G c.1526T>C (p.Leu509Pro) c.1628T>C (p.Leu543Pro) c.1568T>C (p.Leu523Pro) n.3607-579A>G n.4043-579A>G c.1451T>C (p.Leu484Pro) c.1469T>C (p.Leu490Pro) c.1226T>C (p.Leu409Pro) c.1259T>C (p.Leu420Pro) c.1277T>C (p.Leu426Pro) | |
2 | g.127428843T>G | CA348406579 | PROC | c.1283T>G (p.Leu428Arg) c.607T>G c.1385T>G (p.Leu462Arg) c.1466T>G (p.Leu489Arg) c.1448T>G (p.Leu483Arg) c.1346T>G (p.Leu449Arg) n.1332-579A>C c.1526T>G (p.Leu509Arg) c.1628T>G (p.Leu543Arg) c.1568T>G (p.Leu523Arg) n.3607-579A>C n.4043-579A>C c.1451T>G (p.Leu484Arg) c.1469T>G (p.Leu490Arg) c.1226T>G (p.Leu409Arg) c.1259T>G (p.Leu420Arg) c.1277T>G (p.Leu426Arg) | |
2 | g.127428843T= | CA1286884676 | PROC | c.1283T= (p.Leu428=) c.607T= c.1385T= (p.Leu462=) c.1466T= (p.Leu489=) c.1448T= (p.Leu483=) c.1346T= (p.Leu449=) n.1332-579A= c.1526T= (p.Leu509=) c.1628T= (p.Leu543=) c.1568T= (p.Leu523=) n.3607-579A= n.4043-579A= c.1451T= (p.Leu484=) c.1469T= (p.Leu490=) c.1226T= (p.Leu409=) c.1259T= (p.Leu420=) c.1277T= (p.Leu426=) | |
2 | g.127428843_127428844insAT | CA2586969925 | PROC | c.1283_1284insAT (p.Leu429SerfsTer?) c.607_608insAT c.1385_1386insAT (p.Leu463SerfsTer?) c.1466_1467insAT (p.Leu490SerfsTer?) c.1448_1449insAT (p.Leu484SerfsTer?) c.1346_1347insAT (p.Leu450SerfsTer?) n.1332-579_1332-578insTA c.1526_1527insAT (p.Leu510SerfsTer?) c.1628_1629insAT (p.Leu544SerfsTer?) c.1568_1569insAT (p.Leu524SerfsTer?) n.3607-579_3607-578insTA n.4043-579_4043-578insTA c.1451_1452insAT (p.Leu485SerfsTer?) c.1469_1470insAT (p.Leu491SerfsTer?) c.1226_1227insAT (p.Leu410SerfsTer?) c.1259_1260insAT (p.Leu421SerfsTer?) c.1277_1278insAT (p.Leu427SerfsTer?) | |
2 | g.127428844C>A | CA428872970 | PROC | c.1284C>A (p.Leu428=) c.608C>A c.1386C>A (p.Leu462=) c.1467C>A (p.Leu489=) c.1449C>A (p.Leu483=) c.1347C>A (p.Leu449=) n.1332-580G>T c.1527C>A (p.Leu509=) c.1629C>A (p.Leu543=) c.1569C>A (p.Leu523=) n.3607-580G>T n.4043-580G>T c.1452C>A (p.Leu484=) c.1470C>A (p.Leu490=) c.1227C>A (p.Leu409=) c.1260C>A (p.Leu420=) c.1278C>A (p.Leu426=) | gnomAD v4 |
2 | g.127428844C= | CA1286884677 | PROC | c.1284C= (p.Leu428=) c.608C= c.1386C= (p.Leu462=) c.1467C= (p.Leu489=) c.1449C= (p.Leu483=) c.1347C= (p.Leu449=) n.1332-580G= c.1527C= (p.Leu509=) c.1629C= (p.Leu543=) c.1569C= (p.Leu523=) n.3607-580G= n.4043-580G= c.1452C= (p.Leu484=) c.1470C= (p.Leu490=) c.1227C= (p.Leu409=) c.1260C= (p.Leu420=) c.1278C= (p.Leu426=) | |
2 | g.127428844C>G | CA428872973 | PROC | c.1284C>G (p.Leu428=) c.608C>G c.1386C>G (p.Leu462=) c.1467C>G (p.Leu489=) c.1449C>G (p.Leu483=) c.1347C>G (p.Leu449=) n.1332-580G>C c.1527C>G (p.Leu509=) c.1629C>G (p.Leu543=) c.1569C>G (p.Leu523=) n.3607-580G>C n.4043-580G>C c.1452C>G (p.Leu484=) c.1470C>G (p.Leu490=) c.1227C>G (p.Leu409=) c.1260C>G (p.Leu420=) c.1278C>G (p.Leu426=) | |
2 | g.127428844C>T | CA428872977 | PROC | c.1284C>T (p.Leu428=) c.608C>T c.1386C>T (p.Leu462=) c.1467C>T (p.Leu489=) c.1449C>T (p.Leu483=) c.1347C>T (p.Leu449=) n.1332-580G>A c.1527C>T (p.Leu509=) c.1629C>T (p.Leu543=) c.1569C>T (p.Leu523=) n.3607-580G>A n.4043-580G>A c.1452C>T (p.Leu484=) c.1470C>T (p.Leu490=) c.1227C>T (p.Leu409=) c.1260C>T (p.Leu420=) c.1278C>T (p.Leu426=) | |
2 | g.127428844_127428845insA | CA1286884678 | PROC | c.1284_1285insA (p.Leu429ThrfsTer?) c.608_609insA c.1386_1387insA (p.Leu463ThrfsTer?) c.1467_1468insA (p.Leu490ThrfsTer?) c.1449_1450insA (p.Leu484ThrfsTer?) c.1347_1348insA (p.Leu450ThrfsTer?) n.1332-581_1332-580insT c.1527_1528insA (p.Leu510ThrfsTer?) c.1629_1630insA (p.Leu544ThrfsTer?) c.1569_1570insA (p.Leu524ThrfsTer?) n.3607-581_3607-580insT n.4043-581_4043-580insT c.1452_1453insA (p.Leu485ThrfsTer?) c.1470_1471insA (p.Leu491ThrfsTer?) c.1227_1228insA (p.Leu410ThrfsTer?) c.1260_1261insA (p.Leu421ThrfsTer?) c.1278_1279insA (p.Leu427ThrfsTer?) | dbSNP |
2 | g.127428845C>A | CA348406580 | PROC | c.1285C>A (p.Leu429Ile) c.609C>A c.1387C>A (p.Leu463Ile) c.1468C>A (p.Leu490Ile) c.1450C>A (p.Leu484Ile) c.1348C>A (p.Leu450Ile) n.1332-581G>T c.1528C>A (p.Leu510Ile) c.1630C>A (p.Leu544Ile) c.1570C>A (p.Leu524Ile) n.3607-581G>T n.4043-581G>T c.1453C>A (p.Leu485Ile) c.1471C>A (p.Leu491Ile) c.1228C>A (p.Leu410Ile) c.1261C>A (p.Leu421Ile) c.1279C>A (p.Leu427Ile) | |
2 | g.127428845C>G | CA348406581 | PROC | c.1285C>G (p.Leu429Val) c.609C>G c.1387C>G (p.Leu463Val) c.1468C>G (p.Leu490Val) c.1450C>G (p.Leu484Val) c.1348C>G (p.Leu450Val) n.1332-581G>C c.1528C>G (p.Leu510Val) c.1630C>G (p.Leu544Val) c.1570C>G (p.Leu524Val) n.3607-581G>C n.4043-581G>C c.1453C>G (p.Leu485Val) c.1471C>G (p.Leu491Val) c.1228C>G (p.Leu410Val) c.1261C>G (p.Leu421Val) c.1279C>G (p.Leu427Val) | |
2 | g.127428845C>T | CA348406582 | PROC | c.1285C>T (p.Leu429Phe) c.609C>T c.1387C>T (p.Leu463Phe) c.1468C>T (p.Leu490Phe) c.1450C>T (p.Leu484Phe) c.1348C>T (p.Leu450Phe) n.1332-581G>A c.1528C>T (p.Leu510Phe) c.1630C>T (p.Leu544Phe) c.1570C>T (p.Leu524Phe) n.3607-581G>A n.4043-581G>A c.1453C>T (p.Leu485Phe) c.1471C>T (p.Leu491Phe) c.1228C>T (p.Leu410Phe) c.1261C>T (p.Leu421Phe) c.1279C>T (p.Leu427Phe) | gnomAD v4 |
2 | g.127428845_127428847delinsCTT | CA1286884679 | PROC | c.1285_1287delinsCTT (p.Leu429=) c.609_611delinsCTT c.1387_1389delinsCTT (p.Leu463=) c.1468_1470delinsCTT (p.Leu490=) c.1450_1452delinsCTT (p.Leu484=) c.1348_1350delinsCTT (p.Leu450=) n.1332-583_1332-581delinsAAG c.1528_1530delinsCTT (p.Leu510=) c.1630_1632delinsCTT (p.Leu544=) c.1570_1572delinsCTT (p.Leu524=) n.3607-583_3607-581delinsAAG n.4043-583_4043-581delinsAAG c.1453_1455delinsCTT (p.Leu485=) c.1471_1473delinsCTT (p.Leu491=) c.1228_1230delinsCTT (p.Leu410=) c.1261_1263delinsCTT (p.Leu421=) c.1279_1281delinsCTT (p.Leu427=) | |
2 | g.127428846T>A | CA348406583 | PROC | c.1286T>A (p.Leu429His) c.610T>A c.1388T>A (p.Leu463His) c.1469T>A (p.Leu490His) c.1451T>A (p.Leu484His) c.1349T>A (p.Leu450His) n.1332-582A>T c.1529T>A (p.Leu510His) c.1631T>A (p.Leu544His) c.1571T>A (p.Leu524His) n.3607-582A>T n.4043-582A>T c.1454T>A (p.Leu485His) c.1472T>A (p.Leu491His) c.1229T>A (p.Leu410His) c.1262T>A (p.Leu421His) c.1280T>A (p.Leu427His) | |
2 | g.127428846T>C | CA348406584 | PROC | c.1286T>C (p.Leu429Pro) c.610T>C c.1388T>C (p.Leu463Pro) c.1469T>C (p.Leu490Pro) c.1451T>C (p.Leu484Pro) c.1349T>C (p.Leu450Pro) n.1332-582A>G c.1529T>C (p.Leu510Pro) c.1631T>C (p.Leu544Pro) c.1571T>C (p.Leu524Pro) n.3607-582A>G n.4043-582A>G c.1454T>C (p.Leu485Pro) c.1472T>C (p.Leu491Pro) c.1229T>C (p.Leu410Pro) c.1262T>C (p.Leu421Pro) c.1280T>C (p.Leu427Pro) | |
2 | g.127428846T>G | CA348406585 | PROC | c.1286T>G (p.Leu429Arg) c.610T>G c.1388T>G (p.Leu463Arg) c.1469T>G (p.Leu490Arg) c.1451T>G (p.Leu484Arg) c.1349T>G (p.Leu450Arg) n.1332-582A>C c.1529T>G (p.Leu510Arg) c.1631T>G (p.Leu544Arg) c.1571T>G (p.Leu524Arg) n.3607-582A>C n.4043-582A>C c.1454T>G (p.Leu485Arg) c.1472T>G (p.Leu491Arg) c.1229T>G (p.Leu410Arg) c.1262T>G (p.Leu421Arg) c.1280T>G (p.Leu427Arg) | |
2 | g.127428846_127428847del | CA1286884680 | PROC | c.1286_1287del (p.Leu429ProfsTer?) c.610_611del c.1388_1389del (p.Leu463ProfsTer?) c.1469_1470del (p.Leu490ProfsTer?) c.1451_1452del (p.Leu484ProfsTer?) c.1349_1350del (p.Leu450ProfsTer?) n.1332-583_1332-582del c.1529_1530del (p.Leu510ProfsTer?) c.1631_1632del (p.Leu544ProfsTer?) c.1571_1572del (p.Leu524ProfsTer?) n.3607-583_3607-582del n.4043-583_4043-582del c.1454_1455del (p.Leu485ProfsTer?) c.1472_1473del (p.Leu491ProfsTer?) c.1229_1230del (p.Leu410ProfsTer?) c.1262_1263del (p.Leu421ProfsTer?) c.1280_1281del (p.Leu427ProfsTer?) | dbSNP |
2 | g.127428847T>A | CA428873003 | PROC | c.1287T>A (p.Leu429=) c.611T>A c.1389T>A (p.Leu463=) c.1470T>A (p.Leu490=) c.1452T>A (p.Leu484=) c.1350T>A (p.Leu450=) n.1332-583A>T c.1530T>A (p.Leu510=) c.1632T>A (p.Leu544=) c.1572T>A (p.Leu524=) n.3607-583A>T n.4043-583A>T c.1455T>A (p.Leu485=) c.1473T>A (p.Leu491=) c.1230T>A (p.Leu410=) c.1263T>A (p.Leu421=) c.1281T>A (p.Leu427=) | |
2 | g.127428847T>C | CA428873000 | PROC | c.1287T>C (p.Leu429=) c.611T>C c.1389T>C (p.Leu463=) c.1470T>C (p.Leu490=) c.1452T>C (p.Leu484=) c.1350T>C (p.Leu450=) n.1332-583A>G c.1530T>C (p.Leu510=) c.1632T>C (p.Leu544=) c.1572T>C (p.Leu524=) n.3607-583A>G n.4043-583A>G c.1455T>C (p.Leu485=) c.1473T>C (p.Leu491=) c.1230T>C (p.Leu410=) c.1263T>C (p.Leu421=) c.1281T>C (p.Leu427=) | ClinVar gnomAD v4 |
2 | g.127428847T>G | CA428872998 | PROC | c.1287T>G (p.Leu429=) c.611T>G c.1389T>G (p.Leu463=) c.1470T>G (p.Leu490=) c.1452T>G (p.Leu484=) c.1350T>G (p.Leu450=) n.1332-583A>C c.1530T>G (p.Leu510=) c.1632T>G (p.Leu544=) c.1572T>G (p.Leu524=) n.3607-583A>C n.4043-583A>C c.1455T>G (p.Leu485=) c.1473T>G (p.Leu491=) c.1230T>G (p.Leu410=) c.1263T>G (p.Leu421=) c.1281T>G (p.Leu427=) | |
2 | g.127428848C>A | CA348406586 | PROC | c.1288C>A (p.His430Asn) c.612C>A c.1390C>A (p.His464Asn) c.1471C>A (p.His491Asn) c.1453C>A (p.His485Asn) c.1351C>A (p.His451Asn) n.1332-584G>T c.1531C>A (p.His511Asn) c.1633C>A (p.His545Asn) c.1573C>A (p.His525Asn) n.3607-584G>T n.4043-584G>T c.1456C>A (p.His486Asn) c.1474C>A (p.His492Asn) c.1231C>A (p.His411Asn) c.1264C>A (p.His422Asn) c.1282C>A (p.His428Asn) | |
2 | g.127428848C= | CA1286884681 | PROC | c.1288C= (p.His430=) c.612C= c.1390C= (p.His464=) c.1471C= (p.His491=) c.1453C= (p.His485=) c.1351C= (p.His451=) n.1332-584G= c.1531C= (p.His511=) c.1633C= (p.His545=) c.1573C= (p.His525=) n.3607-584G= n.4043-584G= c.1456C= (p.His486=) c.1474C= (p.His492=) c.1231C= (p.His411=) c.1264C= (p.His422=) c.1282C= (p.His428=) | |
2 | g.127428848C>G | CA348406587 | PROC | c.1288C>G (p.His430Asp) c.612C>G c.1390C>G (p.His464Asp) c.1471C>G (p.His491Asp) c.1453C>G (p.His485Asp) c.1351C>G (p.His451Asp) n.1332-584G>C c.1531C>G (p.His511Asp) c.1633C>G (p.His545Asp) c.1573C>G (p.His525Asp) n.3607-584G>C n.4043-584G>C c.1456C>G (p.His486Asp) c.1474C>G (p.His492Asp) c.1231C>G (p.His411Asp) c.1264C>G (p.His422Asp) c.1282C>G (p.His428Asp) | |
2 | g.127428848C>T | CA1859560 | PROC | c.1288C>T (p.His430Tyr) c.612C>T c.1390C>T (p.His464Tyr) c.1471C>T (p.His491Tyr) c.1453C>T (p.His485Tyr) c.1351C>T (p.His451Tyr) n.1332-584G>A c.1531C>T (p.His511Tyr) c.1633C>T (p.His545Tyr) c.1573C>T (p.His525Tyr) n.3607-584G>A n.4043-584G>A c.1456C>T (p.His486Tyr) c.1474C>T (p.His492Tyr) c.1231C>T (p.His411Tyr) c.1264C>T (p.His422Tyr) c.1282C>T (p.His428Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428849A>C | CA348406589 | PROC | c.1289A>C (p.His430Pro) c.613A>C c.1391A>C (p.His464Pro) c.1472A>C (p.His491Pro) c.1454A>C (p.His485Pro) c.1352A>C (p.His451Pro) n.1332-585T>G c.1532A>C (p.His511Pro) c.1634A>C (p.His545Pro) c.1574A>C (p.His525Pro) n.3607-585T>G n.4043-585T>G c.1457A>C (p.His486Pro) c.1475A>C (p.His492Pro) c.1232A>C (p.His411Pro) c.1265A>C (p.His422Pro) c.1283A>C (p.His428Pro) | |
2 | g.127428849A>G | CA348406590 | PROC | c.1289A>G (p.His430Arg) c.613A>G c.1391A>G (p.His464Arg) c.1472A>G (p.His491Arg) c.1454A>G (p.His485Arg) c.1352A>G (p.His451Arg) n.1332-585T>C c.1532A>G (p.His511Arg) c.1634A>G (p.His545Arg) c.1574A>G (p.His525Arg) n.3607-585T>C n.4043-585T>C c.1457A>G (p.His486Arg) c.1475A>G (p.His492Arg) c.1232A>G (p.His411Arg) c.1265A>G (p.His422Arg) c.1283A>G (p.His428Arg) | |
2 | g.127428849A>T | CA348406588 | PROC | c.1289A>T (p.His430Leu) c.613A>T c.1391A>T (p.His464Leu) c.1472A>T (p.His491Leu) c.1454A>T (p.His485Leu) c.1352A>T (p.His451Leu) n.1332-585T>A c.1532A>T (p.His511Leu) c.1634A>T (p.His545Leu) c.1574A>T (p.His525Leu) n.3607-585T>A n.4043-585T>A c.1457A>T (p.His486Leu) c.1475A>T (p.His492Leu) c.1232A>T (p.His411Leu) c.1265A>T (p.His422Leu) c.1283A>T (p.His428Leu) | |
2 | g.127428849dup | CA1286884682 | PROC | c.1289dup (p.His430GlnfsTer?) c.613dup c.1391dup (p.His464GlnfsTer?) c.1472dup (p.His491GlnfsTer?) c.1454dup (p.His485GlnfsTer?) c.1352dup (p.His451GlnfsTer?) n.1332-585dup c.1532dup (p.His511GlnfsTer?) c.1634dup (p.His545GlnfsTer?) c.1574dup (p.His525GlnfsTer?) n.3607-585dup n.4043-585dup c.1457dup (p.His486GlnfsTer?) c.1475dup (p.His492GlnfsTer?) c.1232dup (p.His411GlnfsTer?) c.1265dup (p.His422GlnfsTer?) c.1283dup (p.His428GlnfsTer?) | dbSNP |
2 | g.127428850C>A | CA348406591 | PROC | c.1290C>A (p.His430Gln) c.614C>A c.1392C>A (p.His464Gln) c.1473C>A (p.His491Gln) c.1455C>A (p.His485Gln) c.1353C>A (p.His451Gln) n.1332-586G>T c.1533C>A (p.His511Gln) c.1635C>A (p.His545Gln) c.1575C>A (p.His525Gln) n.3607-586G>T n.4043-586G>T c.1458C>A (p.His486Gln) c.1476C>A (p.His492Gln) c.1233C>A (p.His411Gln) c.1266C>A (p.His422Gln) c.1284C>A (p.His428Gln) | |
2 | g.127428850C>G | CA348406592 | PROC | c.1290C>G (p.His430Gln) c.614C>G c.1392C>G (p.His464Gln) c.1473C>G (p.His491Gln) c.1455C>G (p.His485Gln) c.1353C>G (p.His451Gln) n.1332-586G>C c.1533C>G (p.His511Gln) c.1635C>G (p.His545Gln) c.1575C>G (p.His525Gln) n.3607-586G>C n.4043-586G>C c.1458C>G (p.His486Gln) c.1476C>G (p.His492Gln) c.1233C>G (p.His411Gln) c.1266C>G (p.His422Gln) c.1284C>G (p.His428Gln) | |
2 | g.127428850C>T | CA428873011 | PROC | c.1290C>T (p.His430=) c.614C>T c.1392C>T (p.His464=) c.1473C>T (p.His491=) c.1455C>T (p.His485=) c.1353C>T (p.His451=) n.1332-586G>A c.1533C>T (p.His511=) c.1635C>T (p.His545=) c.1575C>T (p.His525=) n.3607-586G>A n.4043-586G>A c.1458C>T (p.His486=) c.1476C>T (p.His492=) c.1233C>T (p.His411=) c.1266C>T (p.His422=) c.1284C>T (p.His428=) | gnomAD v4 |
2 | g.127428851A>C | CA348406593 | PROC | c.1291A>C (p.Asn431His) c.615A>C c.1393A>C (p.Asn465His) c.1474A>C (p.Asn492His) c.1456A>C (p.Asn486His) c.1354A>C (p.Asn452His) n.1332-587T>G c.1534A>C (p.Asn512His) c.1636A>C (p.Asn546His) c.1576A>C (p.Asn526His) n.3607-587T>G n.4043-587T>G c.1459A>C (p.Asn487His) c.1477A>C (p.Asn493His) c.1234A>C (p.Asn412His) c.1267A>C (p.Asn423His) c.1285A>C (p.Asn429His) | |
2 | g.127428851A>G | CA348406594 | PROC | c.1291A>G (p.Asn431Asp) c.615A>G c.1393A>G (p.Asn465Asp) c.1474A>G (p.Asn492Asp) c.1456A>G (p.Asn486Asp) c.1354A>G (p.Asn452Asp) n.1332-587T>C c.1534A>G (p.Asn512Asp) c.1636A>G (p.Asn546Asp) c.1576A>G (p.Asn526Asp) n.3607-587T>C n.4043-587T>C c.1459A>G (p.Asn487Asp) c.1477A>G (p.Asn493Asp) c.1234A>G (p.Asn412Asp) c.1267A>G (p.Asn423Asp) c.1285A>G (p.Asn429Asp) | |
2 | g.127428851A>T | CA348406595 | PROC | c.1291A>T (p.Asn431Tyr) c.615A>T c.1393A>T (p.Asn465Tyr) c.1474A>T (p.Asn492Tyr) c.1456A>T (p.Asn486Tyr) c.1354A>T (p.Asn452Tyr) n.1332-587T>A c.1534A>T (p.Asn512Tyr) c.1636A>T (p.Asn546Tyr) c.1576A>T (p.Asn526Tyr) n.3607-587T>A n.4043-587T>A c.1459A>T (p.Asn487Tyr) c.1477A>T (p.Asn493Tyr) c.1234A>T (p.Asn412Tyr) c.1267A>T (p.Asn423Tyr) c.1285A>T (p.Asn429Tyr) | |
2 | g.127428852A>C | CA348406598 | PROC | c.1292A>C (p.Asn431Thr) c.616A>C c.1394A>C (p.Asn465Thr) c.1475A>C (p.Asn492Thr) c.1457A>C (p.Asn486Thr) c.1355A>C (p.Asn452Thr) n.1332-588T>G c.1535A>C (p.Asn512Thr) c.1637A>C (p.Asn546Thr) c.1577A>C (p.Asn526Thr) n.3607-588T>G n.4043-588T>G c.1460A>C (p.Asn487Thr) c.1478A>C (p.Asn493Thr) c.1235A>C (p.Asn412Thr) c.1268A>C (p.Asn423Thr) c.1286A>C (p.Asn429Thr) | |
2 | g.127428852A>G | CA348406596 | PROC | c.1292A>G (p.Asn431Ser) c.616A>G c.1394A>G (p.Asn465Ser) c.1475A>G (p.Asn492Ser) c.1457A>G (p.Asn486Ser) c.1355A>G (p.Asn452Ser) n.1332-588T>C c.1535A>G (p.Asn512Ser) c.1637A>G (p.Asn546Ser) c.1577A>G (p.Asn526Ser) n.3607-588T>C n.4043-588T>C c.1460A>G (p.Asn487Ser) c.1478A>G (p.Asn493Ser) c.1235A>G (p.Asn412Ser) c.1268A>G (p.Asn423Ser) c.1286A>G (p.Asn429Ser) | |
2 | g.127428852A>T | CA348406597 | PROC | c.1292A>T (p.Asn431Ile) c.616A>T c.1394A>T (p.Asn465Ile) c.1475A>T (p.Asn492Ile) c.1457A>T (p.Asn486Ile) c.1355A>T (p.Asn452Ile) n.1332-588T>A c.1535A>T (p.Asn512Ile) c.1637A>T (p.Asn546Ile) c.1577A>T (p.Asn526Ile) n.3607-588T>A n.4043-588T>A c.1460A>T (p.Asn487Ile) c.1478A>T (p.Asn493Ile) c.1235A>T (p.Asn412Ile) c.1268A>T (p.Asn423Ile) c.1286A>T (p.Asn429Ile) | |
2 | g.127428853del | CA2573133200 | PROC | c.1293del (p.Tyr432ThrfsTer?) c.617del c.1395del (p.Tyr466ThrfsTer?) c.1476del (p.Tyr493ThrfsTer?) c.1458del (p.Tyr487ThrfsTer?) c.1356del (p.Tyr453ThrfsTer?) n.1332-589del c.1536del (p.Tyr513ThrfsTer?) c.1638del (p.Tyr547ThrfsTer?) c.1578del (p.Tyr527ThrfsTer?) n.3607-589del n.4043-589del c.1461del (p.Tyr488ThrfsTer?) c.1479del (p.Tyr494ThrfsTer?) c.1236del (p.Tyr413ThrfsTer?) c.1269del (p.Tyr424ThrfsTer?) c.1287del (p.Tyr430ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.127428853C>A | CA348406599 | PROC | c.1293C>A (p.Asn431Lys) c.617C>A c.1395C>A (p.Asn465Lys) c.1476C>A (p.Asn492Lys) c.1458C>A (p.Asn486Lys) c.1356C>A (p.Asn452Lys) n.1332-589G>T c.1536C>A (p.Asn512Lys) c.1638C>A (p.Asn546Lys) c.1578C>A (p.Asn526Lys) n.3607-589G>T n.4043-589G>T c.1461C>A (p.Asn487Lys) c.1479C>A (p.Asn493Lys) c.1236C>A (p.Asn412Lys) c.1269C>A (p.Asn423Lys) c.1287C>A (p.Asn429Lys) | |
2 | g.127428853C>G | CA348406600 | PROC | c.1293C>G (p.Asn431Lys) c.617C>G c.1395C>G (p.Asn465Lys) c.1476C>G (p.Asn492Lys) c.1458C>G (p.Asn486Lys) c.1356C>G (p.Asn452Lys) n.1332-589G>C c.1536C>G (p.Asn512Lys) c.1638C>G (p.Asn546Lys) c.1578C>G (p.Asn526Lys) n.3607-589G>C n.4043-589G>C c.1461C>G (p.Asn487Lys) c.1479C>G (p.Asn493Lys) c.1236C>G (p.Asn412Lys) c.1269C>G (p.Asn423Lys) c.1287C>G (p.Asn429Lys) | |
2 | g.127428853C>T | CA428873016 | PROC | c.1293C>T (p.Asn431=) c.617C>T c.1395C>T (p.Asn465=) c.1476C>T (p.Asn492=) c.1458C>T (p.Asn486=) c.1356C>T (p.Asn452=) n.1332-589G>A c.1536C>T (p.Asn512=) c.1638C>T (p.Asn546=) c.1578C>T (p.Asn526=) n.3607-589G>A n.4043-589G>A c.1461C>T (p.Asn487=) c.1479C>T (p.Asn493=) c.1236C>T (p.Asn412=) c.1269C>T (p.Asn423=) c.1287C>T (p.Asn429=) | |
2 | g.127428854T>A | CA348406601 | PROC | c.1294T>A (p.Tyr432Asn) c.618T>A c.1396T>A (p.Tyr466Asn) c.1477T>A (p.Tyr493Asn) c.1459T>A (p.Tyr487Asn) c.1357T>A (p.Tyr453Asn) n.1332-590A>T c.1537T>A (p.Tyr513Asn) c.1639T>A (p.Tyr547Asn) c.1579T>A (p.Tyr527Asn) n.3607-590A>T n.4043-590A>T c.1462T>A (p.Tyr488Asn) c.1480T>A (p.Tyr494Asn) c.1237T>A (p.Tyr413Asn) c.1270T>A (p.Tyr424Asn) c.1288T>A (p.Tyr430Asn) | |
2 | g.127428854T>C | CA348406602 | PROC | c.1294T>C (p.Tyr432His) c.618T>C c.1396T>C (p.Tyr466His) c.1477T>C (p.Tyr493His) c.1459T>C (p.Tyr487His) c.1357T>C (p.Tyr453His) n.1332-590A>G c.1537T>C (p.Tyr513His) c.1639T>C (p.Tyr547His) c.1579T>C (p.Tyr527His) n.3607-590A>G n.4043-590A>G c.1462T>C (p.Tyr488His) c.1480T>C (p.Tyr494His) c.1237T>C (p.Tyr413His) c.1270T>C (p.Tyr424His) c.1288T>C (p.Tyr430His) | |
2 | g.127428854T>G | CA348406603 | PROC | c.1294T>G (p.Tyr432Asp) c.618T>G c.1396T>G (p.Tyr466Asp) c.1477T>G (p.Tyr493Asp) c.1459T>G (p.Tyr487Asp) c.1357T>G (p.Tyr453Asp) n.1332-590A>C c.1537T>G (p.Tyr513Asp) c.1639T>G (p.Tyr547Asp) c.1579T>G (p.Tyr527Asp) n.3607-590A>C n.4043-590A>C c.1462T>G (p.Tyr488Asp) c.1480T>G (p.Tyr494Asp) c.1237T>G (p.Tyr413Asp) c.1270T>G (p.Tyr424Asp) c.1288T>G (p.Tyr430Asp) | |
2 | g.127428855A>C | CA348406604 | PROC | c.1295A>C (p.Tyr432Ser) c.619A>C c.1397A>C (p.Tyr466Ser) c.1478A>C (p.Tyr493Ser) c.1460A>C (p.Tyr487Ser) c.1358A>C (p.Tyr453Ser) n.1332-591T>G c.1538A>C (p.Tyr513Ser) c.1640A>C (p.Tyr547Ser) c.1580A>C (p.Tyr527Ser) n.3607-591T>G n.4043-591T>G c.1463A>C (p.Tyr488Ser) c.1481A>C (p.Tyr494Ser) c.1238A>C (p.Tyr413Ser) c.1271A>C (p.Tyr424Ser) c.1289A>C (p.Tyr430Ser) | |
2 | g.127428855A>G | CA348406606 | PROC | c.1295A>G (p.Tyr432Cys) c.619A>G c.1397A>G (p.Tyr466Cys) c.1478A>G (p.Tyr493Cys) c.1460A>G (p.Tyr487Cys) c.1358A>G (p.Tyr453Cys) n.1332-591T>C c.1538A>G (p.Tyr513Cys) c.1640A>G (p.Tyr547Cys) c.1580A>G (p.Tyr527Cys) n.3607-591T>C n.4043-591T>C c.1463A>G (p.Tyr488Cys) c.1481A>G (p.Tyr494Cys) c.1238A>G (p.Tyr413Cys) c.1271A>G (p.Tyr424Cys) c.1289A>G (p.Tyr430Cys) | |
2 | g.127428855A>T | CA348406605 | PROC | c.1295A>T (p.Tyr432Phe) c.619A>T c.1397A>T (p.Tyr466Phe) c.1478A>T (p.Tyr493Phe) c.1460A>T (p.Tyr487Phe) c.1358A>T (p.Tyr453Phe) n.1332-591T>A c.1538A>T (p.Tyr513Phe) c.1640A>T (p.Tyr547Phe) c.1580A>T (p.Tyr527Phe) n.3607-591T>A n.4043-591T>A c.1463A>T (p.Tyr488Phe) c.1481A>T (p.Tyr494Phe) c.1238A>T (p.Tyr413Phe) c.1271A>T (p.Tyr424Phe) c.1289A>T (p.Tyr430Phe) | |
2 | g.127428856C>A | CA348406607 | PROC | c.1296C>A (p.Tyr432Ter) c.620C>A c.1398C>A (p.Tyr466Ter) c.1479C>A (p.Tyr493Ter) c.1461C>A (p.Tyr487Ter) c.1359C>A (p.Tyr453Ter) n.1332-592G>T c.1539C>A (p.Tyr513Ter) c.1641C>A (p.Tyr547Ter) c.1581C>A (p.Tyr527Ter) n.3607-592G>T n.4043-592G>T c.1464C>A (p.Tyr488Ter) c.1482C>A (p.Tyr494Ter) c.1239C>A (p.Tyr413Ter) c.1272C>A (p.Tyr424Ter) c.1290C>A (p.Tyr430Ter) | |
2 | g.127428856C= | CA1286884683 | PROC | c.1296C= (p.Tyr432=) c.620C= c.1398C= (p.Tyr466=) c.1479C= (p.Tyr493=) c.1461C= (p.Tyr487=) c.1359C= (p.Tyr453=) n.1332-592G= c.1539C= (p.Tyr513=) c.1641C= (p.Tyr547=) c.1581C= (p.Tyr527=) n.3607-592G= n.4043-592G= c.1464C= (p.Tyr488=) c.1482C= (p.Tyr494=) c.1239C= (p.Tyr413=) c.1272C= (p.Tyr424=) c.1290C= (p.Tyr430=) | |
2 | g.127428856C>G | CA348406608 | PROC | c.1296C>G (p.Tyr432Ter) c.620C>G c.1398C>G (p.Tyr466Ter) c.1479C>G (p.Tyr493Ter) c.1461C>G (p.Tyr487Ter) c.1359C>G (p.Tyr453Ter) n.1332-592G>C c.1539C>G (p.Tyr513Ter) c.1641C>G (p.Tyr547Ter) c.1581C>G (p.Tyr527Ter) n.3607-592G>C n.4043-592G>C c.1464C>G (p.Tyr488Ter) c.1482C>G (p.Tyr494Ter) c.1239C>G (p.Tyr413Ter) c.1272C>G (p.Tyr424Ter) c.1290C>G (p.Tyr430Ter) | |
2 | g.127428856C>T | CA1859561 | PROC | c.1296C>T (p.Tyr432=) c.620C>T c.1398C>T (p.Tyr466=) c.1479C>T (p.Tyr493=) c.1461C>T (p.Tyr487=) c.1359C>T (p.Tyr453=) n.1332-592G>A c.1539C>T (p.Tyr513=) c.1641C>T (p.Tyr547=) c.1581C>T (p.Tyr527=) n.3607-592G>A n.4043-592G>A c.1464C>T (p.Tyr488=) c.1482C>T (p.Tyr494=) c.1239C>T (p.Tyr413=) c.1272C>T (p.Tyr424=) c.1290C>T (p.Tyr430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428857G>A | CA348406609 | PROC | c.1297G>A (p.Gly433Ser) c.621G>A c.1399G>A (p.Gly467Ser) c.1480G>A (p.Gly494Ser) c.1462G>A (p.Gly488Ser) c.1360G>A (p.Gly454Ser) n.1332-593C>T c.1540G>A (p.Gly514Ser) c.1642G>A (p.Gly548Ser) c.1582G>A (p.Gly528Ser) n.3607-593C>T n.4043-593C>T c.1465G>A (p.Gly489Ser) c.1483G>A (p.Gly495Ser) c.1240G>A (p.Gly414Ser) c.1273G>A (p.Gly425Ser) c.1291G>A (p.Gly431Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428857G>C | CA348406610 | PROC | c.1297G>C (p.Gly433Arg) c.621G>C c.1399G>C (p.Gly467Arg) c.1480G>C (p.Gly494Arg) c.1462G>C (p.Gly488Arg) c.1360G>C (p.Gly454Arg) n.1332-593C>G c.1540G>C (p.Gly514Arg) c.1642G>C (p.Gly548Arg) c.1582G>C (p.Gly528Arg) n.3607-593C>G n.4043-593C>G c.1465G>C (p.Gly489Arg) c.1483G>C (p.Gly495Arg) c.1240G>C (p.Gly414Arg) c.1273G>C (p.Gly425Arg) c.1291G>C (p.Gly431Arg) | |
2 | g.127428857G= | CA1286884684 | PROC | c.1297G= (p.Gly433=) c.621G= c.1399G= (p.Gly467=) c.1480G= (p.Gly494=) c.1462G= (p.Gly488=) c.1360G= (p.Gly454=) n.1332-593C= c.1540G= (p.Gly514=) c.1642G= (p.Gly548=) c.1582G= (p.Gly528=) n.3607-593C= n.4043-593C= c.1465G= (p.Gly489=) c.1483G= (p.Gly495=) c.1240G= (p.Gly414=) c.1273G= (p.Gly425=) c.1291G= (p.Gly431=) | |
2 | g.127428857G>T | CA348406611 | PROC | c.1297G>T (p.Gly433Cys) c.621G>T c.1399G>T (p.Gly467Cys) c.1480G>T (p.Gly494Cys) c.1462G>T (p.Gly488Cys) c.1360G>T (p.Gly454Cys) n.1332-593C>A c.1540G>T (p.Gly514Cys) c.1642G>T (p.Gly548Cys) c.1582G>T (p.Gly528Cys) n.3607-593C>A n.4043-593C>A c.1465G>T (p.Gly489Cys) c.1483G>T (p.Gly495Cys) c.1240G>T (p.Gly414Cys) c.1273G>T (p.Gly425Cys) c.1291G>T (p.Gly431Cys) | |
2 | g.127428858G>A | CA1859562 | PROC | c.1298G>A (p.Gly433Asp) c.622G>A c.1400G>A (p.Gly467Asp) c.1481G>A (p.Gly494Asp) c.1463G>A (p.Gly488Asp) c.1361G>A (p.Gly454Asp) n.1332-594C>T c.1541G>A (p.Gly514Asp) c.1643G>A (p.Gly548Asp) c.1583G>A (p.Gly528Asp) n.3607-594C>T n.4043-594C>T c.1466G>A (p.Gly489Asp) c.1484G>A (p.Gly495Asp) c.1241G>A (p.Gly414Asp) c.1274G>A (p.Gly425Asp) c.1292G>A (p.Gly431Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428858G>C | CA348406612 | PROC | c.1298G>C (p.Gly433Ala) c.622G>C c.1400G>C (p.Gly467Ala) c.1481G>C (p.Gly494Ala) c.1463G>C (p.Gly488Ala) c.1361G>C (p.Gly454Ala) n.1332-594C>G c.1541G>C (p.Gly514Ala) c.1643G>C (p.Gly548Ala) c.1583G>C (p.Gly528Ala) n.3607-594C>G n.4043-594C>G c.1466G>C (p.Gly489Ala) c.1484G>C (p.Gly495Ala) c.1241G>C (p.Gly414Ala) c.1274G>C (p.Gly425Ala) c.1292G>C (p.Gly431Ala) | |
2 | g.127428858G= | CA1286884685 | PROC | c.1298G= (p.Gly433=) c.622G= c.1400G= (p.Gly467=) c.1481G= (p.Gly494=) c.1463G= (p.Gly488=) c.1361G= (p.Gly454=) n.1332-594C= c.1541G= (p.Gly514=) c.1643G= (p.Gly548=) c.1583G= (p.Gly528=) n.3607-594C= n.4043-594C= c.1466G= (p.Gly489=) c.1484G= (p.Gly495=) c.1241G= (p.Gly414=) c.1274G= (p.Gly425=) c.1292G= (p.Gly431=) | |
2 | g.127428858G>T | CA348406613 | PROC | c.1298G>T (p.Gly433Val) c.622G>T c.1400G>T (p.Gly467Val) c.1481G>T (p.Gly494Val) c.1463G>T (p.Gly488Val) c.1361G>T (p.Gly454Val) n.1332-594C>A c.1541G>T (p.Gly514Val) c.1643G>T (p.Gly548Val) c.1583G>T (p.Gly528Val) n.3607-594C>A n.4043-594C>A c.1466G>T (p.Gly489Val) c.1484G>T (p.Gly495Val) c.1241G>T (p.Gly414Val) c.1274G>T (p.Gly425Val) c.1292G>T (p.Gly431Val) | |
2 | g.127428859C>A | CA428873027 | PROC | c.1299C>A (p.Gly433=) c.623C>A c.1401C>A (p.Gly467=) c.1482C>A (p.Gly494=) c.1464C>A (p.Gly488=) c.1362C>A (p.Gly454=) n.1332-595G>T c.1542C>A (p.Gly514=) c.1644C>A (p.Gly548=) c.1584C>A (p.Gly528=) n.3607-595G>T n.4043-595G>T c.1467C>A (p.Gly489=) c.1485C>A (p.Gly495=) c.1242C>A (p.Gly414=) c.1275C>A (p.Gly425=) c.1293C>A (p.Gly431=) | |
2 | g.127428859C= | CA1286884686 | PROC | c.1299C= (p.Gly433=) c.623C= c.1401C= (p.Gly467=) c.1482C= (p.Gly494=) c.1464C= (p.Gly488=) c.1362C= (p.Gly454=) n.1332-595G= c.1542C= (p.Gly514=) c.1644C= (p.Gly548=) c.1584C= (p.Gly528=) n.3607-595G= n.4043-595G= c.1467C= (p.Gly489=) c.1485C= (p.Gly495=) c.1242C= (p.Gly414=) c.1275C= (p.Gly425=) c.1293C= (p.Gly431=) | |
2 | g.127428859C>G | CA428873028 | PROC | c.1299C>G (p.Gly433=) c.623C>G c.1401C>G (p.Gly467=) c.1482C>G (p.Gly494=) c.1464C>G (p.Gly488=) c.1362C>G (p.Gly454=) n.1332-595G>C c.1542C>G (p.Gly514=) c.1644C>G (p.Gly548=) c.1584C>G (p.Gly528=) n.3607-595G>C n.4043-595G>C c.1467C>G (p.Gly489=) c.1485C>G (p.Gly495=) c.1242C>G (p.Gly414=) c.1275C>G (p.Gly425=) c.1293C>G (p.Gly431=) | |
2 | g.127428859C>T | CA349279 | PROC | c.1299C>T (p.Gly433=) c.623C>T c.1401C>T (p.Gly467=) c.1482C>T (p.Gly494=) c.1464C>T (p.Gly488=) c.1362C>T (p.Gly454=) n.1332-595G>A c.1542C>T (p.Gly514=) c.1644C>T (p.Gly548=) c.1584C>T (p.Gly528=) n.3607-595G>A n.4043-595G>A c.1467C>T (p.Gly489=) c.1485C>T (p.Gly495=) c.1242C>T (p.Gly414=) c.1275C>T (p.Gly425=) c.1293C>T (p.Gly431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428860G>A | CA1859563 | PROC | c.1300G>A (p.Val434Ile) c.624G>A c.1402G>A (p.Val468Ile) c.1483G>A (p.Val495Ile) c.1465G>A (p.Val489Ile) c.1363G>A (p.Val455Ile) n.1332-596C>T c.1543G>A (p.Val515Ile) c.1645G>A (p.Val549Ile) c.1585G>A (p.Val529Ile) n.3607-596C>T n.4043-596C>T c.1468G>A (p.Val490Ile) c.1486G>A (p.Val496Ile) c.1243G>A (p.Val415Ile) c.1276G>A (p.Val426Ile) c.1294G>A (p.Val432Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428860G>C | CA348406615 | PROC | c.1300G>C (p.Val434Leu) c.624G>C c.1402G>C (p.Val468Leu) c.1483G>C (p.Val495Leu) c.1465G>C (p.Val489Leu) c.1363G>C (p.Val455Leu) n.1332-596C>G c.1543G>C (p.Val515Leu) c.1645G>C (p.Val549Leu) c.1585G>C (p.Val529Leu) n.3607-596C>G n.4043-596C>G c.1468G>C (p.Val490Leu) c.1486G>C (p.Val496Leu) c.1243G>C (p.Val415Leu) c.1276G>C (p.Val426Leu) c.1294G>C (p.Val432Leu) | |
2 | g.127428860G= | CA1286884687 | PROC | c.1300G= (p.Val434=) c.624G= c.1402G= (p.Val468=) c.1483G= (p.Val495=) c.1465G= (p.Val489=) c.1363G= (p.Val455=) n.1332-596C= c.1543G= (p.Val515=) c.1645G= (p.Val549=) c.1585G= (p.Val529=) n.3607-596C= n.4043-596C= c.1468G= (p.Val490=) c.1486G= (p.Val496=) c.1243G= (p.Val415=) c.1276G= (p.Val426=) c.1294G= (p.Val432=) | |
2 | g.127428860G>T | CA348406614 | PROC | c.1300G>T (p.Val434Phe) c.624G>T c.1402G>T (p.Val468Phe) c.1483G>T (p.Val495Phe) c.1465G>T (p.Val489Phe) c.1363G>T (p.Val455Phe) n.1332-596C>A c.1543G>T (p.Val515Phe) c.1645G>T (p.Val549Phe) c.1585G>T (p.Val529Phe) n.3607-596C>A n.4043-596C>A c.1468G>T (p.Val490Phe) c.1486G>T (p.Val496Phe) c.1243G>T (p.Val415Phe) c.1276G>T (p.Val426Phe) c.1294G>T (p.Val432Phe) | |
2 | g.127428861T>A | CA348406616 | PROC | c.1301T>A (p.Val434Asp) c.625T>A c.1403T>A (p.Val468Asp) c.1484T>A (p.Val495Asp) c.1466T>A (p.Val489Asp) c.1364T>A (p.Val455Asp) n.1332-597A>T c.1544T>A (p.Val515Asp) c.1646T>A (p.Val549Asp) c.1586T>A (p.Val529Asp) n.3607-597A>T n.4043-597A>T c.1469T>A (p.Val490Asp) c.1487T>A (p.Val496Asp) c.1244T>A (p.Val415Asp) c.1277T>A (p.Val426Asp) c.1295T>A (p.Val432Asp) | |
2 | g.127428861T>C | CA348406617 | PROC | c.1301T>C (p.Val434Ala) c.625T>C c.1403T>C (p.Val468Ala) c.1484T>C (p.Val495Ala) c.1466T>C (p.Val489Ala) c.1364T>C (p.Val455Ala) n.1332-597A>G c.1544T>C (p.Val515Ala) c.1646T>C (p.Val549Ala) c.1586T>C (p.Val529Ala) n.3607-597A>G n.4043-597A>G c.1469T>C (p.Val490Ala) c.1487T>C (p.Val496Ala) c.1244T>C (p.Val415Ala) c.1277T>C (p.Val426Ala) c.1295T>C (p.Val432Ala) | |
2 | g.127428861T>G | CA348406618 | PROC | c.1301T>G (p.Val434Gly) c.625T>G c.1403T>G (p.Val468Gly) c.1484T>G (p.Val495Gly) c.1466T>G (p.Val489Gly) c.1364T>G (p.Val455Gly) n.1332-597A>C c.1544T>G (p.Val515Gly) c.1646T>G (p.Val549Gly) c.1586T>G (p.Val529Gly) n.3607-597A>C n.4043-597A>C c.1469T>G (p.Val490Gly) c.1487T>G (p.Val496Gly) c.1244T>G (p.Val415Gly) c.1277T>G (p.Val426Gly) c.1295T>G (p.Val432Gly) | |
2 | g.127428862T>A | CA428873034 | PROC | c.1302T>A (p.Val434=) c.626T>A c.1404T>A (p.Val468=) c.1485T>A (p.Val495=) c.1467T>A (p.Val489=) c.1365T>A (p.Val455=) n.1332-598A>T c.1545T>A (p.Val515=) c.1647T>A (p.Val549=) c.1587T>A (p.Val529=) n.3607-598A>T n.4043-598A>T c.1470T>A (p.Val490=) c.1488T>A (p.Val496=) c.1245T>A (p.Val415=) c.1278T>A (p.Val426=) c.1296T>A (p.Val432=) | |
2 | g.127428862T>C | CA1859564 | PROC | c.1302T>C (p.Val434=) c.626T>C c.1404T>C (p.Val468=) c.1485T>C (p.Val495=) c.1467T>C (p.Val489=) c.1365T>C (p.Val455=) n.1332-598A>G c.1545T>C (p.Val515=) c.1647T>C (p.Val549=) c.1587T>C (p.Val529=) n.3607-598A>G n.4043-598A>G c.1470T>C (p.Val490=) c.1488T>C (p.Val496=) c.1245T>C (p.Val415=) c.1278T>C (p.Val426=) c.1296T>C (p.Val432=) | dbSNP ExAC |
2 | g.127428862T>G | CA428873033 | PROC | c.1302T>G (p.Val434=) c.626T>G c.1404T>G (p.Val468=) c.1485T>G (p.Val495=) c.1467T>G (p.Val489=) c.1365T>G (p.Val455=) n.1332-598A>C c.1545T>G (p.Val515=) c.1647T>G (p.Val549=) c.1587T>G (p.Val529=) n.3607-598A>C n.4043-598A>C c.1470T>G (p.Val490=) c.1488T>G (p.Val496=) c.1245T>G (p.Val415=) c.1278T>G (p.Val426=) c.1296T>G (p.Val432=) | |
2 | g.127428862T= | CA1286884688 | PROC | c.1302T= (p.Val434=) c.626T= c.1404T= (p.Val468=) c.1485T= (p.Val495=) c.1467T= (p.Val489=) c.1365T= (p.Val455=) n.1332-598A= c.1545T= (p.Val515=) c.1647T= (p.Val549=) c.1587T= (p.Val529=) n.3607-598A= n.4043-598A= c.1470T= (p.Val490=) c.1488T= (p.Val496=) c.1245T= (p.Val415=) c.1278T= (p.Val426=) c.1296T= (p.Val432=) | |
2 | g.127428863T>A | CA348406621 | PROC | c.1303T>A (p.Tyr435Asn) c.627T>A c.1405T>A (p.Tyr469Asn) c.1486T>A (p.Tyr496Asn) c.1468T>A (p.Tyr490Asn) c.1366T>A (p.Tyr456Asn) n.1332-599A>T c.1546T>A (p.Tyr516Asn) c.1648T>A (p.Tyr550Asn) c.1588T>A (p.Tyr530Asn) n.3607-599A>T n.4043-599A>T c.1471T>A (p.Tyr491Asn) c.1489T>A (p.Tyr497Asn) c.1246T>A (p.Tyr416Asn) c.1279T>A (p.Tyr427Asn) c.1297T>A (p.Tyr433Asn) | |
2 | g.127428863T>C | CA348406619 | PROC | c.1303T>C (p.Tyr435His) c.627T>C c.1405T>C (p.Tyr469His) c.1486T>C (p.Tyr496His) c.1468T>C (p.Tyr490His) c.1366T>C (p.Tyr456His) n.1332-599A>G c.1546T>C (p.Tyr516His) c.1648T>C (p.Tyr550His) c.1588T>C (p.Tyr530His) n.3607-599A>G n.4043-599A>G c.1471T>C (p.Tyr491His) c.1489T>C (p.Tyr497His) c.1246T>C (p.Tyr416His) c.1279T>C (p.Tyr427His) c.1297T>C (p.Tyr433His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428863T>G | CA348406620 | PROC | c.1303T>G (p.Tyr435Asp) c.627T>G c.1405T>G (p.Tyr469Asp) c.1486T>G (p.Tyr496Asp) c.1468T>G (p.Tyr490Asp) c.1366T>G (p.Tyr456Asp) n.1332-599A>C c.1546T>G (p.Tyr516Asp) c.1648T>G (p.Tyr550Asp) c.1588T>G (p.Tyr530Asp) n.3607-599A>C n.4043-599A>C c.1471T>G (p.Tyr491Asp) c.1489T>G (p.Tyr497Asp) c.1246T>G (p.Tyr416Asp) c.1279T>G (p.Tyr427Asp) c.1297T>G (p.Tyr433Asp) | |
2 | g.127428863T= | CA1286884689 | PROC | c.1303T= (p.Tyr435=) c.627T= c.1405T= (p.Tyr469=) c.1486T= (p.Tyr496=) c.1468T= (p.Tyr490=) c.1366T= (p.Tyr456=) n.1332-599A= c.1546T= (p.Tyr516=) c.1648T= (p.Tyr550=) c.1588T= (p.Tyr530=) n.3607-599A= n.4043-599A= c.1471T= (p.Tyr491=) c.1489T= (p.Tyr497=) c.1246T= (p.Tyr416=) c.1279T= (p.Tyr427=) c.1297T= (p.Tyr433=) | |
2 | g.127428864A>C | CA348406622 | PROC | c.1304A>C (p.Tyr435Ser) c.628A>C c.1406A>C (p.Tyr469Ser) c.1487A>C (p.Tyr496Ser) c.1469A>C (p.Tyr490Ser) c.1367A>C (p.Tyr456Ser) n.1332-600T>G c.1547A>C (p.Tyr516Ser) c.1649A>C (p.Tyr550Ser) c.1589A>C (p.Tyr530Ser) n.3607-600T>G n.4043-600T>G c.1472A>C (p.Tyr491Ser) c.1490A>C (p.Tyr497Ser) c.1247A>C (p.Tyr416Ser) c.1280A>C (p.Tyr427Ser) c.1298A>C (p.Tyr433Ser) | |
2 | g.127428864A>G | CA348406623 | PROC | c.1304A>G (p.Tyr435Cys) c.628A>G c.1406A>G (p.Tyr469Cys) c.1487A>G (p.Tyr496Cys) c.1469A>G (p.Tyr490Cys) c.1367A>G (p.Tyr456Cys) n.1332-600T>C c.1547A>G (p.Tyr516Cys) c.1649A>G (p.Tyr550Cys) c.1589A>G (p.Tyr530Cys) n.3607-600T>C n.4043-600T>C c.1472A>G (p.Tyr491Cys) c.1490A>G (p.Tyr497Cys) c.1247A>G (p.Tyr416Cys) c.1280A>G (p.Tyr427Cys) c.1298A>G (p.Tyr433Cys) | |
2 | g.127428864A>T | CA348406624 | PROC | c.1304A>T (p.Tyr435Phe) c.628A>T c.1406A>T (p.Tyr469Phe) c.1487A>T (p.Tyr496Phe) c.1469A>T (p.Tyr490Phe) c.1367A>T (p.Tyr456Phe) n.1332-600T>A c.1547A>T (p.Tyr516Phe) c.1649A>T (p.Tyr550Phe) c.1589A>T (p.Tyr530Phe) n.3607-600T>A n.4043-600T>A c.1472A>T (p.Tyr491Phe) c.1490A>T (p.Tyr497Phe) c.1247A>T (p.Tyr416Phe) c.1280A>T (p.Tyr427Phe) c.1298A>T (p.Tyr433Phe) | |
2 | g.127428865del | CA2573133201 | PROC | c.1305del (p.Tyr435Ter) c.629del c.1407del (p.Tyr469Ter) c.1488del (p.Tyr496Ter) c.1470del (p.Tyr490Ter) c.1368del (p.Tyr456Ter) n.1332-601del c.1548del (p.Tyr516Ter) c.1650del (p.Tyr550Ter) c.1590del (p.Tyr530Ter) n.3607-601del n.4043-601del c.1473del (p.Tyr491Ter) c.1491del (p.Tyr497Ter) c.1248del (p.Tyr416Ter) c.1281del (p.Tyr427Ter) c.1299del (p.Tyr433Ter) | ClinVar dbSNP |
2 | g.127428865C>A | CA348406625 | PROC | c.1305C>A (p.Tyr435Ter) c.629C>A c.1407C>A (p.Tyr469Ter) c.1488C>A (p.Tyr496Ter) c.1470C>A (p.Tyr490Ter) c.1368C>A (p.Tyr456Ter) n.1332-601G>T c.1548C>A (p.Tyr516Ter) c.1650C>A (p.Tyr550Ter) c.1590C>A (p.Tyr530Ter) n.3607-601G>T n.4043-601G>T c.1473C>A (p.Tyr491Ter) c.1491C>A (p.Tyr497Ter) c.1248C>A (p.Tyr416Ter) c.1281C>A (p.Tyr427Ter) c.1299C>A (p.Tyr433Ter) | |
2 | g.127428865C= | CA1286884690 | PROC | c.1305C= (p.Tyr435=) c.629C= c.1407C= (p.Tyr469=) c.1488C= (p.Tyr496=) c.1470C= (p.Tyr490=) c.1368C= (p.Tyr456=) n.1332-601G= c.1548C= (p.Tyr516=) c.1650C= (p.Tyr550=) c.1590C= (p.Tyr530=) n.3607-601G= n.4043-601G= c.1473C= (p.Tyr491=) c.1491C= (p.Tyr497=) c.1248C= (p.Tyr416=) c.1281C= (p.Tyr427=) c.1299C= (p.Tyr433=) | |
2 | g.127428865C>G | CA348406626 | PROC | c.1305C>G (p.Tyr435Ter) c.629C>G c.1407C>G (p.Tyr469Ter) c.1488C>G (p.Tyr496Ter) c.1470C>G (p.Tyr490Ter) c.1368C>G (p.Tyr456Ter) n.1332-601G>C c.1548C>G (p.Tyr516Ter) c.1650C>G (p.Tyr550Ter) c.1590C>G (p.Tyr530Ter) n.3607-601G>C n.4043-601G>C c.1473C>G (p.Tyr491Ter) c.1491C>G (p.Tyr497Ter) c.1248C>G (p.Tyr416Ter) c.1281C>G (p.Tyr427Ter) c.1299C>G (p.Tyr433Ter) | |
2 | g.127428865C>T | CA1859565 | PROC | c.1305C>T (p.Tyr435=) c.629C>T c.1407C>T (p.Tyr469=) c.1488C>T (p.Tyr496=) c.1470C>T (p.Tyr490=) c.1368C>T (p.Tyr456=) n.1332-601G>A c.1548C>T (p.Tyr516=) c.1650C>T (p.Tyr550=) c.1590C>T (p.Tyr530=) n.3607-601G>A n.4043-601G>A c.1473C>T (p.Tyr491=) c.1491C>T (p.Tyr497=) c.1248C>T (p.Tyr416=) c.1281C>T (p.Tyr427=) c.1299C>T (p.Tyr433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428866A>C | CA348406627 | PROC | c.1306A>C (p.Thr436Pro) c.630A>C c.1408A>C (p.Thr470Pro) c.1489A>C (p.Thr497Pro) c.1471A>C (p.Thr491Pro) c.1369A>C (p.Thr457Pro) n.1332-602T>G c.1549A>C (p.Thr517Pro) c.1651A>C (p.Thr551Pro) c.1591A>C (p.Thr531Pro) n.3607-602T>G n.4043-602T>G c.1474A>C (p.Thr492Pro) c.1492A>C (p.Thr498Pro) c.1249A>C (p.Thr417Pro) c.1282A>C (p.Thr428Pro) c.1300A>C (p.Thr434Pro) | |
2 | g.127428866A>G | CA348406628 | PROC | c.1306A>G (p.Thr436Ala) c.630A>G c.1408A>G (p.Thr470Ala) c.1489A>G (p.Thr497Ala) c.1471A>G (p.Thr491Ala) c.1369A>G (p.Thr457Ala) n.1332-602T>C c.1549A>G (p.Thr517Ala) c.1651A>G (p.Thr551Ala) c.1591A>G (p.Thr531Ala) n.3607-602T>C n.4043-602T>C c.1474A>G (p.Thr492Ala) c.1492A>G (p.Thr498Ala) c.1249A>G (p.Thr417Ala) c.1282A>G (p.Thr428Ala) c.1300A>G (p.Thr434Ala) | |
2 | g.127428866A>T | CA348406629 | PROC | c.1306A>T (p.Thr436Ser) c.630A>T c.1408A>T (p.Thr470Ser) c.1489A>T (p.Thr497Ser) c.1471A>T (p.Thr491Ser) c.1369A>T (p.Thr457Ser) n.1332-602T>A c.1549A>T (p.Thr517Ser) c.1651A>T (p.Thr551Ser) c.1591A>T (p.Thr531Ser) n.3607-602T>A n.4043-602T>A c.1474A>T (p.Thr492Ser) c.1492A>T (p.Thr498Ser) c.1249A>T (p.Thr417Ser) c.1282A>T (p.Thr428Ser) c.1300A>T (p.Thr434Ser) |