Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428603_127428616dup | CA2660997781 | PROC | c.1043_1056dup (p.Lys353GlufsTer30) c.367_380dup c.1145_1158dup (p.Lys387GlufsTer30) c.1226_1239dup (p.Lys414GlufsTer30) c.1208_1221dup (p.Lys408GlufsTer30) c.1106_1119dup (p.Lys374GlufsTer30) n.1332-349_1332-336dup c.1286_1299dup (p.Lys434GlufsTer30) c.1388_1401dup (p.Lys468GlufsTer30) c.1328_1341dup (p.Lys448GlufsTer30) n.3607-349_3607-336dup n.4043-349_4043-336dup c.1211_1224dup (p.Lys409GlufsTer30) c.1229_1242dup (p.Lys415GlufsTer30) c.986_999dup (p.Lys334GlufsTer30) c.1019_1032dup (p.Lys345GlufsTer30) c.1037_1050dup (p.Lys351GlufsTer30) | gnomAD v4 |
2 | g.127428601C>A | CA348405611 | PROC | c.1041C>A (p.Ser347Arg) c.365C>A c.1143C>A (p.Ser381Arg) c.1224C>A (p.Ser408Arg) c.1206C>A (p.Ser402Arg) c.1104C>A (p.Ser368Arg) n.1332-337G>T c.1284C>A (p.Ser428Arg) c.1386C>A (p.Ser462Arg) c.1326C>A (p.Ser442Arg) n.3607-337G>T n.4043-337G>T c.1209C>A (p.Ser403Arg) c.1227C>A (p.Ser409Arg) c.984C>A (p.Ser328Arg) c.1017C>A (p.Ser339Arg) c.1035C>A (p.Ser345Arg) | COSMIC |
2 | g.127428601C>G | CA348405613 | PROC | c.1041C>G (p.Ser347Arg) c.365C>G c.1143C>G (p.Ser381Arg) c.1224C>G (p.Ser408Arg) c.1206C>G (p.Ser402Arg) c.1104C>G (p.Ser368Arg) n.1332-337G>C c.1284C>G (p.Ser428Arg) c.1386C>G (p.Ser462Arg) c.1326C>G (p.Ser442Arg) n.3607-337G>C n.4043-337G>C c.1209C>G (p.Ser403Arg) c.1227C>G (p.Ser409Arg) c.984C>G (p.Ser328Arg) c.1017C>G (p.Ser339Arg) c.1035C>G (p.Ser345Arg) | |
2 | g.127428601C>T | CA428872046 | PROC | c.1041C>T (p.Ser347=) c.365C>T c.1143C>T (p.Ser381=) c.1224C>T (p.Ser408=) c.1206C>T (p.Ser402=) c.1104C>T (p.Ser368=) n.1332-337G>A c.1284C>T (p.Ser428=) c.1386C>T (p.Ser462=) c.1326C>T (p.Ser442=) n.3607-337G>A n.4043-337G>A c.1209C>T (p.Ser403=) c.1227C>T (p.Ser409=) c.984C>T (p.Ser328=) c.1017C>T (p.Ser339=) c.1035C>T (p.Ser345=) | |
2 | g.127428602C>A | CA428872050 | PROC | c.1042C>A (p.Arg348=) c.366C>A c.1144C>A (p.Arg382=) c.1225C>A (p.Arg409=) c.1207C>A (p.Arg403=) c.1105C>A (p.Arg369=) n.1332-338G>T c.1285C>A (p.Arg429=) c.1387C>A (p.Arg463=) c.1327C>A (p.Arg443=) n.3607-338G>T n.4043-338G>T c.1210C>A (p.Arg404=) c.1228C>A (p.Arg410=) c.985C>A (p.Arg329=) c.1018C>A (p.Arg340=) c.1036C>A (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428602C= | CA1286884543 | PROC | c.1042C= (p.Arg348=) c.366C= c.1144C= (p.Arg382=) c.1225C= (p.Arg409=) c.1207C= (p.Arg403=) c.1105C= (p.Arg369=) n.1332-338G= c.1285C= (p.Arg429=) c.1387C= (p.Arg463=) c.1327C= (p.Arg443=) n.3607-338G= n.4043-338G= c.1210C= (p.Arg404=) c.1228C= (p.Arg410=) c.985C= (p.Arg329=) c.1018C= (p.Arg340=) c.1036C= (p.Arg346=) | |
2 | g.127428602C>G | CA348405616 | PROC | c.1042C>G (p.Arg348Gly) c.366C>G c.1144C>G (p.Arg382Gly) c.1225C>G (p.Arg409Gly) c.1207C>G (p.Arg403Gly) c.1105C>G (p.Arg369Gly) n.1332-338G>C c.1285C>G (p.Arg429Gly) c.1387C>G (p.Arg463Gly) c.1327C>G (p.Arg443Gly) n.3607-338G>C n.4043-338G>C c.1210C>G (p.Arg404Gly) c.1228C>G (p.Arg410Gly) c.985C>G (p.Arg329Gly) c.1018C>G (p.Arg340Gly) c.1036C>G (p.Arg346Gly) | |
2 | g.127428602C>T | CA114384 | PROC | c.1042C>T (p.Arg348Ter) c.366C>T c.1144C>T (p.Arg382Ter) c.1225C>T (p.Arg409Ter) c.1207C>T (p.Arg403Ter) c.1105C>T (p.Arg369Ter) n.1332-338G>A c.1285C>T (p.Arg429Ter) c.1387C>T (p.Arg463Ter) c.1327C>T (p.Arg443Ter) n.3607-338G>A n.4043-338G>A c.1210C>T (p.Arg404Ter) c.1228C>T (p.Arg410Ter) c.985C>T (p.Arg329Ter) c.1018C>T (p.Arg340Ter) c.1036C>T (p.Arg346Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428602_127428604delinsCGA | CA1286884544 | PROC | c.1042_1044delinsCGA (p.Arg348=) c.366_368delinsCGA c.1144_1146delinsCGA (p.Arg382=) c.1225_1227delinsCGA (p.Arg409=) c.1207_1209delinsCGA (p.Arg403=) c.1105_1107delinsCGA (p.Arg369=) n.1332-340_1332-338delinsTCG c.1285_1287delinsCGA (p.Arg429=) c.1387_1389delinsCGA (p.Arg463=) c.1327_1329delinsCGA (p.Arg443=) n.3607-340_3607-338delinsTCG n.4043-340_4043-338delinsTCG c.1210_1212delinsCGA (p.Arg404=) c.1228_1230delinsCGA (p.Arg410=) c.985_987delinsCGA (p.Arg329=) c.1018_1020delinsCGA (p.Arg340=) c.1036_1038delinsCGA (p.Arg346=) | |
2 | g.127428603G>A | CA1859509 | PROC | c.1043G>A (p.Arg348Gln) c.367G>A c.1145G>A (p.Arg382Gln) c.1226G>A (p.Arg409Gln) c.1208G>A (p.Arg403Gln) c.1106G>A (p.Arg369Gln) n.1332-339C>T c.1286G>A (p.Arg429Gln) c.1388G>A (p.Arg463Gln) c.1328G>A (p.Arg443Gln) n.3607-339C>T n.4043-339C>T c.1211G>A (p.Arg404Gln) c.1229G>A (p.Arg410Gln) c.986G>A (p.Arg329Gln) c.1019G>A (p.Arg340Gln) c.1037G>A (p.Arg346Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428603G>C | CA348405619 | PROC | c.1043G>C (p.Arg348Pro) c.367G>C c.1145G>C (p.Arg382Pro) c.1226G>C (p.Arg409Pro) c.1208G>C (p.Arg403Pro) c.1106G>C (p.Arg369Pro) n.1332-339C>G c.1286G>C (p.Arg429Pro) c.1388G>C (p.Arg463Pro) c.1328G>C (p.Arg443Pro) n.3607-339C>G n.4043-339C>G c.1211G>C (p.Arg404Pro) c.1229G>C (p.Arg410Pro) c.986G>C (p.Arg329Pro) c.1019G>C (p.Arg340Pro) c.1037G>C (p.Arg346Pro) | |
2 | g.127428603G= | CA1286884545 | PROC | c.1043G= (p.Arg348=) c.367G= c.1145G= (p.Arg382=) c.1226G= (p.Arg409=) c.1208G= (p.Arg403=) c.1106G= (p.Arg369=) n.1332-339C= c.1286G= (p.Arg429=) c.1388G= (p.Arg463=) c.1328G= (p.Arg443=) n.3607-339C= n.4043-339C= c.1211G= (p.Arg404=) c.1229G= (p.Arg410=) c.986G= (p.Arg329=) c.1019G= (p.Arg340=) c.1037G= (p.Arg346=) | |
2 | g.127428603G>T | CA348405621 | PROC | c.1043G>T (p.Arg348Leu) c.367G>T c.1145G>T (p.Arg382Leu) c.1226G>T (p.Arg409Leu) c.1208G>T (p.Arg403Leu) c.1106G>T (p.Arg369Leu) n.1332-339C>A c.1286G>T (p.Arg429Leu) c.1388G>T (p.Arg463Leu) c.1328G>T (p.Arg443Leu) n.3607-339C>A n.4043-339C>A c.1211G>T (p.Arg404Leu) c.1229G>T (p.Arg410Leu) c.986G>T (p.Arg329Leu) c.1019G>T (p.Arg340Leu) c.1037G>T (p.Arg346Leu) | |
2 | g.127428607_127428608del | CA536067712 | PROC | c.1047_1048del (p.Lys350GlyfsTer22) c.371_372del c.1149_1150del (p.Lys384GlyfsTer22) c.1230_1231del (p.Lys411GlyfsTer22) c.1212_1213del (p.Lys405GlyfsTer22) c.1110_1111del (p.Lys371GlyfsTer22) n.1332-340_1332-339del c.1290_1291del (p.Lys431GlyfsTer22) c.1392_1393del (p.Lys465GlyfsTer22) c.1332_1333del (p.Lys445GlyfsTer22) n.3607-340_3607-339del n.4043-340_4043-339del c.1215_1216del (p.Lys406GlyfsTer22) c.1233_1234del (p.Lys412GlyfsTer22) c.990_991del (p.Lys331GlyfsTer22) c.1023_1024del (p.Lys342GlyfsTer22) c.1041_1042del (p.Lys348GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428604A>C | CA428872060 | PROC | c.1044A>C (p.Arg348=) c.368A>C c.1146A>C (p.Arg382=) c.1227A>C (p.Arg409=) c.1209A>C (p.Arg403=) c.1107A>C (p.Arg369=) n.1332-340T>G c.1287A>C (p.Arg429=) c.1389A>C (p.Arg463=) c.1329A>C (p.Arg443=) n.3607-340T>G n.4043-340T>G c.1212A>C (p.Arg404=) c.1230A>C (p.Arg410=) c.987A>C (p.Arg329=) c.1020A>C (p.Arg340=) c.1038A>C (p.Arg346=) | |
2 | g.127428604A>G | CA428872062 | PROC | c.1044A>G (p.Arg348=) c.368A>G c.1146A>G (p.Arg382=) c.1227A>G (p.Arg409=) c.1209A>G (p.Arg403=) c.1107A>G (p.Arg369=) n.1332-340T>C c.1287A>G (p.Arg429=) c.1389A>G (p.Arg463=) c.1329A>G (p.Arg443=) n.3607-340T>C n.4043-340T>C c.1212A>G (p.Arg404=) c.1230A>G (p.Arg410=) c.987A>G (p.Arg329=) c.1020A>G (p.Arg340=) c.1038A>G (p.Arg346=) | gnomAD v4 |
2 | g.127428604A>T | CA428872064 | PROC | c.1044A>T (p.Arg348=) c.368A>T c.1146A>T (p.Arg382=) c.1227A>T (p.Arg409=) c.1209A>T (p.Arg403=) c.1107A>T (p.Arg369=) n.1332-340T>A c.1287A>T (p.Arg429=) c.1389A>T (p.Arg463=) c.1329A>T (p.Arg443=) n.3607-340T>A n.4043-340T>A c.1212A>T (p.Arg404=) c.1230A>T (p.Arg410=) c.987A>T (p.Arg329=) c.1020A>T (p.Arg340=) c.1038A>T (p.Arg346=) | |
2 | g.127428605G>A | CA348405624 | PROC | c.1045G>A (p.Glu349Lys) c.369G>A c.1147G>A (p.Glu383Lys) c.1228G>A (p.Glu410Lys) c.1210G>A (p.Glu404Lys) c.1108G>A (p.Glu370Lys) n.1332-341C>T c.1288G>A (p.Glu430Lys) c.1390G>A (p.Glu464Lys) c.1330G>A (p.Glu444Lys) n.3607-341C>T n.4043-341C>T c.1213G>A (p.Glu405Lys) c.1231G>A (p.Glu411Lys) c.988G>A (p.Glu330Lys) c.1021G>A (p.Glu341Lys) c.1039G>A (p.Glu347Lys) | |
2 | g.127428605G>C | CA348405625 | PROC | c.1045G>C (p.Glu349Gln) c.369G>C c.1147G>C (p.Glu383Gln) c.1228G>C (p.Glu410Gln) c.1210G>C (p.Glu404Gln) c.1108G>C (p.Glu370Gln) n.1332-341C>G c.1288G>C (p.Glu430Gln) c.1390G>C (p.Glu464Gln) c.1330G>C (p.Glu444Gln) n.3607-341C>G n.4043-341C>G c.1213G>C (p.Glu405Gln) c.1231G>C (p.Glu411Gln) c.988G>C (p.Glu330Gln) c.1021G>C (p.Glu341Gln) c.1039G>C (p.Glu347Gln) | |
2 | g.127428605G>T | CA348405626 | PROC | c.1045G>T (p.Glu349Ter) c.369G>T c.1147G>T (p.Glu383Ter) c.1228G>T (p.Glu410Ter) c.1210G>T (p.Glu404Ter) c.1108G>T (p.Glu370Ter) n.1332-341C>A c.1288G>T (p.Glu430Ter) c.1390G>T (p.Glu464Ter) c.1330G>T (p.Glu444Ter) n.3607-341C>A n.4043-341C>A c.1213G>T (p.Glu405Ter) c.1231G>T (p.Glu411Ter) c.988G>T (p.Glu330Ter) c.1021G>T (p.Glu341Ter) c.1039G>T (p.Glu347Ter) | |
2 | g.127428606A= | CA1286884546 | PROC | c.1046A= (p.Glu349=) c.370A= c.1148A= (p.Glu383=) c.1229A= (p.Glu410=) c.1211A= (p.Glu404=) c.1109A= (p.Glu370=) n.1332-342T= c.1289A= (p.Glu430=) c.1391A= (p.Glu464=) c.1331A= (p.Glu444=) n.3607-342T= n.4043-342T= c.1214A= (p.Glu405=) c.1232A= (p.Glu411=) c.989A= (p.Glu330=) c.1022A= (p.Glu341=) c.1040A= (p.Glu347=) | |
2 | g.127428606A>C | CA348405631 | PROC | c.1046A>C (p.Glu349Ala) c.370A>C c.1148A>C (p.Glu383Ala) c.1229A>C (p.Glu410Ala) c.1211A>C (p.Glu404Ala) c.1109A>C (p.Glu370Ala) n.1332-342T>G c.1289A>C (p.Glu430Ala) c.1391A>C (p.Glu464Ala) c.1331A>C (p.Glu444Ala) n.3607-342T>G n.4043-342T>G c.1214A>C (p.Glu405Ala) c.1232A>C (p.Glu411Ala) c.989A>C (p.Glu330Ala) c.1022A>C (p.Glu341Ala) c.1040A>C (p.Glu347Ala) | |
2 | g.127428606A>G | CA55350995 | PROC | c.1046A>G (p.Glu349Gly) c.370A>G c.1148A>G (p.Glu383Gly) c.1229A>G (p.Glu410Gly) c.1211A>G (p.Glu404Gly) c.1109A>G (p.Glu370Gly) n.1332-342T>C c.1289A>G (p.Glu430Gly) c.1391A>G (p.Glu464Gly) c.1331A>G (p.Glu444Gly) n.3607-342T>C n.4043-342T>C c.1214A>G (p.Glu405Gly) c.1232A>G (p.Glu411Gly) c.989A>G (p.Glu330Gly) c.1022A>G (p.Glu341Gly) c.1040A>G (p.Glu347Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428606A>T | CA348405630 | PROC | c.1046A>T (p.Glu349Val) c.370A>T c.1148A>T (p.Glu383Val) c.1229A>T (p.Glu410Val) c.1211A>T (p.Glu404Val) c.1109A>T (p.Glu370Val) n.1332-342T>A c.1289A>T (p.Glu430Val) c.1391A>T (p.Glu464Val) c.1331A>T (p.Glu444Val) n.3607-342T>A n.4043-342T>A c.1214A>T (p.Glu405Val) c.1232A>T (p.Glu411Val) c.989A>T (p.Glu330Val) c.1022A>T (p.Glu341Val) c.1040A>T (p.Glu347Val) | |
2 | g.127428607G>A | CA55351005 | PROC | c.1047G>A (p.Glu349=) c.371G>A c.1149G>A (p.Glu383=) c.1230G>A (p.Glu410=) c.1212G>A (p.Glu404=) c.1110G>A (p.Glu370=) n.1332-343C>T c.1290G>A (p.Glu430=) c.1392G>A (p.Glu464=) c.1332G>A (p.Glu444=) n.3607-343C>T n.4043-343C>T c.1215G>A (p.Glu405=) c.1233G>A (p.Glu411=) c.990G>A (p.Glu330=) c.1023G>A (p.Glu341=) c.1041G>A (p.Glu347=) | dbSNP gnomAD v4 |
2 | g.127428607G>C | CA1859510 | PROC | c.1047G>C (p.Glu349Asp) c.371G>C c.1149G>C (p.Glu383Asp) c.1230G>C (p.Glu410Asp) c.1212G>C (p.Glu404Asp) c.1110G>C (p.Glu370Asp) n.1332-343C>G c.1290G>C (p.Glu430Asp) c.1392G>C (p.Glu464Asp) c.1332G>C (p.Glu444Asp) n.3607-343C>G n.4043-343C>G c.1215G>C (p.Glu405Asp) c.1233G>C (p.Glu411Asp) c.990G>C (p.Glu330Asp) c.1023G>C (p.Glu341Asp) c.1041G>C (p.Glu347Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428607G= | CA1286884547 | PROC | c.1047G= (p.Glu349=) c.371G= c.1149G= (p.Glu383=) c.1230G= (p.Glu410=) c.1212G= (p.Glu404=) c.1110G= (p.Glu370=) n.1332-343C= c.1290G= (p.Glu430=) c.1392G= (p.Glu464=) c.1332G= (p.Glu444=) n.3607-343C= n.4043-343C= c.1215G= (p.Glu405=) c.1233G= (p.Glu411=) c.990G= (p.Glu330=) c.1023G= (p.Glu341=) c.1041G= (p.Glu347=) | |
2 | g.127428607G>T | CA348405633 | PROC | c.1047G>T (p.Glu349Asp) c.371G>T c.1149G>T (p.Glu383Asp) c.1230G>T (p.Glu410Asp) c.1212G>T (p.Glu404Asp) c.1110G>T (p.Glu370Asp) n.1332-343C>A c.1290G>T (p.Glu430Asp) c.1392G>T (p.Glu464Asp) c.1332G>T (p.Glu444Asp) n.3607-343C>A n.4043-343C>A c.1215G>T (p.Glu405Asp) c.1233G>T (p.Glu411Asp) c.990G>T (p.Glu330Asp) c.1023G>T (p.Glu341Asp) c.1041G>T (p.Glu347Asp) | |
2 | g.127428608A= | CA1286884548 | PROC | c.1048A= (p.Lys350=) c.372A= c.1150A= (p.Lys384=) c.1231A= (p.Lys411=) c.1213A= (p.Lys405=) c.1111A= (p.Lys371=) n.1332-344T= c.1291A= (p.Lys431=) c.1393A= (p.Lys465=) c.1333A= (p.Lys445=) n.3607-344T= n.4043-344T= c.1216A= (p.Lys406=) c.1234A= (p.Lys412=) c.991A= (p.Lys331=) c.1024A= (p.Lys342=) c.1042A= (p.Lys348=) | |
2 | g.127428608A>C | CA348405636 | PROC | c.1048A>C (p.Lys350Gln) c.372A>C c.1150A>C (p.Lys384Gln) c.1231A>C (p.Lys411Gln) c.1213A>C (p.Lys405Gln) c.1111A>C (p.Lys371Gln) n.1332-344T>G c.1291A>C (p.Lys431Gln) c.1393A>C (p.Lys465Gln) c.1333A>C (p.Lys445Gln) n.3607-344T>G n.4043-344T>G c.1216A>C (p.Lys406Gln) c.1234A>C (p.Lys412Gln) c.991A>C (p.Lys331Gln) c.1024A>C (p.Lys342Gln) c.1042A>C (p.Lys348Gln) | |
2 | g.127428608A>G | CA348405638 | PROC | c.1048A>G (p.Lys350Glu) c.372A>G c.1150A>G (p.Lys384Glu) c.1231A>G (p.Lys411Glu) c.1213A>G (p.Lys405Glu) c.1111A>G (p.Lys371Glu) n.1332-344T>C c.1291A>G (p.Lys431Glu) c.1393A>G (p.Lys465Glu) c.1333A>G (p.Lys445Glu) n.3607-344T>C n.4043-344T>C c.1216A>G (p.Lys406Glu) c.1234A>G (p.Lys412Glu) c.991A>G (p.Lys331Glu) c.1024A>G (p.Lys342Glu) c.1042A>G (p.Lys348Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.127428608A>T | CA348405639 | PROC | c.1048A>T (p.Lys350Ter) c.372A>T c.1150A>T (p.Lys384Ter) c.1231A>T (p.Lys411Ter) c.1213A>T (p.Lys405Ter) c.1111A>T (p.Lys371Ter) n.1332-344T>A c.1291A>T (p.Lys431Ter) c.1393A>T (p.Lys465Ter) c.1333A>T (p.Lys445Ter) n.3607-344T>A n.4043-344T>A c.1216A>T (p.Lys406Ter) c.1234A>T (p.Lys412Ter) c.991A>T (p.Lys331Ter) c.1024A>T (p.Lys342Ter) c.1042A>T (p.Lys348Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428609A= | CA1286884549 | PROC | c.1049A= (p.Lys350=) c.373A= c.1151A= (p.Lys384=) c.1232A= (p.Lys411=) c.1214A= (p.Lys405=) c.1112A= (p.Lys371=) n.1332-345T= c.1292A= (p.Lys431=) c.1394A= (p.Lys465=) c.1334A= (p.Lys445=) n.3607-345T= n.4043-345T= c.1217A= (p.Lys406=) c.1235A= (p.Lys412=) c.992A= (p.Lys331=) c.1025A= (p.Lys342=) c.1043A= (p.Lys348=) | |
2 | g.127428609A>C | CA55351006 | PROC | c.1049A>C (p.Lys350Thr) c.373A>C c.1151A>C (p.Lys384Thr) c.1232A>C (p.Lys411Thr) c.1214A>C (p.Lys405Thr) c.1112A>C (p.Lys371Thr) n.1332-345T>G c.1292A>C (p.Lys431Thr) c.1394A>C (p.Lys465Thr) c.1334A>C (p.Lys445Thr) n.3607-345T>G n.4043-345T>G c.1217A>C (p.Lys406Thr) c.1235A>C (p.Lys412Thr) c.992A>C (p.Lys331Thr) c.1025A>C (p.Lys342Thr) c.1043A>C (p.Lys348Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428609A>G | CA348405645 | PROC | c.1049A>G (p.Lys350Arg) c.373A>G c.1151A>G (p.Lys384Arg) c.1232A>G (p.Lys411Arg) c.1214A>G (p.Lys405Arg) c.1112A>G (p.Lys371Arg) n.1332-345T>C c.1292A>G (p.Lys431Arg) c.1394A>G (p.Lys465Arg) c.1334A>G (p.Lys445Arg) n.3607-345T>C n.4043-345T>C c.1217A>G (p.Lys406Arg) c.1235A>G (p.Lys412Arg) c.992A>G (p.Lys331Arg) c.1025A>G (p.Lys342Arg) c.1043A>G (p.Lys348Arg) | |
2 | g.127428609A>T | CA348405643 | PROC | c.1049A>T (p.Lys350Met) c.373A>T c.1151A>T (p.Lys384Met) c.1232A>T (p.Lys411Met) c.1214A>T (p.Lys405Met) c.1112A>T (p.Lys371Met) n.1332-345T>A c.1292A>T (p.Lys431Met) c.1394A>T (p.Lys465Met) c.1334A>T (p.Lys445Met) n.3607-345T>A n.4043-345T>A c.1217A>T (p.Lys406Met) c.1235A>T (p.Lys412Met) c.992A>T (p.Lys331Met) c.1025A>T (p.Lys342Met) c.1043A>T (p.Lys348Met) | |
2 | g.127428610G>A | CA1859511 | PROC | c.1050G>A (p.Lys350=) c.374G>A c.1152G>A (p.Lys384=) c.1233G>A (p.Lys411=) c.1215G>A (p.Lys405=) c.1113G>A (p.Lys371=) n.1332-346C>T c.1293G>A (p.Lys431=) c.1395G>A (p.Lys465=) c.1335G>A (p.Lys445=) n.3607-346C>T n.4043-346C>T c.1218G>A (p.Lys406=) c.1236G>A (p.Lys412=) c.993G>A (p.Lys331=) c.1026G>A (p.Lys342=) c.1044G>A (p.Lys348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428610G>C | CA348405648 | PROC | c.1050G>C (p.Lys350Asn) c.374G>C c.1152G>C (p.Lys384Asn) c.1233G>C (p.Lys411Asn) c.1215G>C (p.Lys405Asn) c.1113G>C (p.Lys371Asn) n.1332-346C>G c.1293G>C (p.Lys431Asn) c.1395G>C (p.Lys465Asn) c.1335G>C (p.Lys445Asn) n.3607-346C>G n.4043-346C>G c.1218G>C (p.Lys406Asn) c.1236G>C (p.Lys412Asn) c.993G>C (p.Lys331Asn) c.1026G>C (p.Lys342Asn) c.1044G>C (p.Lys348Asn) | |
2 | g.127428610G= | CA1286884550 | PROC | c.1050G= (p.Lys350=) c.374G= c.1152G= (p.Lys384=) c.1233G= (p.Lys411=) c.1215G= (p.Lys405=) c.1113G= (p.Lys371=) n.1332-346C= c.1293G= (p.Lys431=) c.1395G= (p.Lys465=) c.1335G= (p.Lys445=) n.3607-346C= n.4043-346C= c.1218G= (p.Lys406=) c.1236G= (p.Lys412=) c.993G= (p.Lys331=) c.1026G= (p.Lys342=) c.1044G= (p.Lys348=) | |
2 | g.127428610G>T | CA348405650 | PROC | c.1050G>T (p.Lys350Asn) c.374G>T c.1152G>T (p.Lys384Asn) c.1233G>T (p.Lys411Asn) c.1215G>T (p.Lys405Asn) c.1113G>T (p.Lys371Asn) n.1332-346C>A c.1293G>T (p.Lys431Asn) c.1395G>T (p.Lys465Asn) c.1335G>T (p.Lys445Asn) n.3607-346C>A n.4043-346C>A c.1218G>T (p.Lys406Asn) c.1236G>T (p.Lys412Asn) c.993G>T (p.Lys331Asn) c.1026G>T (p.Lys342Asn) c.1044G>T (p.Lys348Asn) | |
2 | g.127428611G>A | CA348405652 | PROC | c.1051G>A (p.Glu351Lys) c.375G>A c.1153G>A (p.Glu385Lys) c.1234G>A (p.Glu412Lys) c.1216G>A (p.Glu406Lys) c.1114G>A (p.Glu372Lys) n.1332-347C>T c.1294G>A (p.Glu432Lys) c.1396G>A (p.Glu466Lys) c.1336G>A (p.Glu446Lys) n.3607-347C>T n.4043-347C>T c.1219G>A (p.Glu407Lys) c.1237G>A (p.Glu413Lys) c.994G>A (p.Glu332Lys) c.1027G>A (p.Glu343Lys) c.1045G>A (p.Glu349Lys) | |
2 | g.127428611G>C | CA348405653 | PROC | c.1051G>C (p.Glu351Gln) c.375G>C c.1153G>C (p.Glu385Gln) c.1234G>C (p.Glu412Gln) c.1216G>C (p.Glu406Gln) c.1114G>C (p.Glu372Gln) n.1332-347C>G c.1294G>C (p.Glu432Gln) c.1396G>C (p.Glu466Gln) c.1336G>C (p.Glu446Gln) n.3607-347C>G n.4043-347C>G c.1219G>C (p.Glu407Gln) c.1237G>C (p.Glu413Gln) c.994G>C (p.Glu332Gln) c.1027G>C (p.Glu343Gln) c.1045G>C (p.Glu349Gln) | |
2 | g.127428611G>T | CA348405656 | PROC | c.1051G>T (p.Glu351Ter) c.375G>T c.1153G>T (p.Glu385Ter) c.1234G>T (p.Glu412Ter) c.1216G>T (p.Glu406Ter) c.1114G>T (p.Glu372Ter) n.1332-347C>A c.1294G>T (p.Glu432Ter) c.1396G>T (p.Glu466Ter) c.1336G>T (p.Glu446Ter) n.3607-347C>A n.4043-347C>A c.1219G>T (p.Glu407Ter) c.1237G>T (p.Glu413Ter) c.994G>T (p.Glu332Ter) c.1027G>T (p.Glu343Ter) c.1045G>T (p.Glu349Ter) | |
2 | g.127428612A= | CA1286884551 | PROC | c.1052A= (p.Glu351=) c.376A= c.1154A= (p.Glu385=) c.1235A= (p.Glu412=) c.1217A= (p.Glu406=) c.1115A= (p.Glu372=) n.1332-348T= c.1295A= (p.Glu432=) c.1397A= (p.Glu466=) c.1337A= (p.Glu446=) n.3607-348T= n.4043-348T= c.1220A= (p.Glu407=) c.1238A= (p.Glu413=) c.995A= (p.Glu332=) c.1028A= (p.Glu343=) c.1046A= (p.Glu349=) | |
2 | g.127428612A>C | CA348405658 | PROC | c.1052A>C (p.Glu351Ala) c.376A>C c.1154A>C (p.Glu385Ala) c.1235A>C (p.Glu412Ala) c.1217A>C (p.Glu406Ala) c.1115A>C (p.Glu372Ala) n.1332-348T>G c.1295A>C (p.Glu432Ala) c.1397A>C (p.Glu466Ala) c.1337A>C (p.Glu446Ala) n.3607-348T>G n.4043-348T>G c.1220A>C (p.Glu407Ala) c.1238A>C (p.Glu413Ala) c.995A>C (p.Glu332Ala) c.1028A>C (p.Glu343Ala) c.1046A>C (p.Glu349Ala) | dbSNP |
2 | g.127428612A>G | CA348405659 | PROC | c.1052A>G (p.Glu351Gly) c.376A>G c.1154A>G (p.Glu385Gly) c.1235A>G (p.Glu412Gly) c.1217A>G (p.Glu406Gly) c.1115A>G (p.Glu372Gly) n.1332-348T>C c.1295A>G (p.Glu432Gly) c.1397A>G (p.Glu466Gly) c.1337A>G (p.Glu446Gly) n.3607-348T>C n.4043-348T>C c.1220A>G (p.Glu407Gly) c.1238A>G (p.Glu413Gly) c.995A>G (p.Glu332Gly) c.1028A>G (p.Glu343Gly) c.1046A>G (p.Glu349Gly) | |
2 | g.127428612A>T | CA348405660 | PROC | c.1052A>T (p.Glu351Val) c.376A>T c.1154A>T (p.Glu385Val) c.1235A>T (p.Glu412Val) c.1217A>T (p.Glu406Val) c.1115A>T (p.Glu372Val) n.1332-348T>A c.1295A>T (p.Glu432Val) c.1397A>T (p.Glu466Val) c.1337A>T (p.Glu446Val) n.3607-348T>A n.4043-348T>A c.1220A>T (p.Glu407Val) c.1238A>T (p.Glu413Val) c.995A>T (p.Glu332Val) c.1028A>T (p.Glu343Val) c.1046A>T (p.Glu349Val) | |
2 | g.127428613G>A | CA428872906 | PROC | c.1053G>A (p.Glu351=) c.377G>A c.1155G>A (p.Glu385=) c.1236G>A (p.Glu412=) c.1218G>A (p.Glu406=) c.1116G>A (p.Glu372=) n.1332-349C>T c.1296G>A (p.Glu432=) c.1398G>A (p.Glu466=) c.1338G>A (p.Glu446=) n.3607-349C>T n.4043-349C>T c.1221G>A (p.Glu407=) c.1239G>A (p.Glu413=) c.996G>A (p.Glu332=) c.1029G>A (p.Glu343=) c.1047G>A (p.Glu349=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428613G>C | CA348405661 | PROC | c.1053G>C (p.Glu351Asp) c.377G>C c.1155G>C (p.Glu385Asp) c.1236G>C (p.Glu412Asp) c.1218G>C (p.Glu406Asp) c.1116G>C (p.Glu372Asp) n.1332-349C>G c.1296G>C (p.Glu432Asp) c.1398G>C (p.Glu466Asp) c.1338G>C (p.Glu446Asp) n.3607-349C>G n.4043-349C>G c.1221G>C (p.Glu407Asp) c.1239G>C (p.Glu413Asp) c.996G>C (p.Glu332Asp) c.1029G>C (p.Glu343Asp) c.1047G>C (p.Glu349Asp) | |
2 | g.127428613G= | CA1286884552 | PROC | c.1053G= (p.Glu351=) c.377G= c.1155G= (p.Glu385=) c.1236G= (p.Glu412=) c.1218G= (p.Glu406=) c.1116G= (p.Glu372=) n.1332-349C= c.1296G= (p.Glu432=) c.1398G= (p.Glu466=) c.1338G= (p.Glu446=) n.3607-349C= n.4043-349C= c.1221G= (p.Glu407=) c.1239G= (p.Glu413=) c.996G= (p.Glu332=) c.1029G= (p.Glu343=) c.1047G= (p.Glu349=) | |
2 | g.127428613G>T | CA348405662 | PROC | c.1053G>T (p.Glu351Asp) c.377G>T c.1155G>T (p.Glu385Asp) c.1236G>T (p.Glu412Asp) c.1218G>T (p.Glu406Asp) c.1116G>T (p.Glu372Asp) n.1332-349C>A c.1296G>T (p.Glu432Asp) c.1398G>T (p.Glu466Asp) c.1338G>T (p.Glu446Asp) n.3607-349C>A n.4043-349C>A c.1221G>T (p.Glu407Asp) c.1239G>T (p.Glu413Asp) c.996G>T (p.Glu332Asp) c.1029G>T (p.Glu343Asp) c.1047G>T (p.Glu349Asp) | |
2 | g.127428614G>A | CA348405664 | PROC | c.1054G>A (p.Ala352Thr) c.378G>A c.1156G>A (p.Ala386Thr) c.1237G>A (p.Ala413Thr) c.1219G>A (p.Ala407Thr) c.1117G>A (p.Ala373Thr) n.1332-350C>T c.1297G>A (p.Ala433Thr) c.1399G>A (p.Ala467Thr) c.1339G>A (p.Ala447Thr) n.3607-350C>T n.4043-350C>T c.1222G>A (p.Ala408Thr) c.1240G>A (p.Ala414Thr) c.997G>A (p.Ala333Thr) c.1030G>A (p.Ala344Thr) c.1048G>A (p.Ala350Thr) | |
2 | g.127428614G>C | CA55351014 | PROC | c.1054G>C (p.Ala352Pro) c.378G>C c.1156G>C (p.Ala386Pro) c.1237G>C (p.Ala413Pro) c.1219G>C (p.Ala407Pro) c.1117G>C (p.Ala373Pro) n.1332-350C>G c.1297G>C (p.Ala433Pro) c.1399G>C (p.Ala467Pro) c.1339G>C (p.Ala447Pro) n.3607-350C>G n.4043-350C>G c.1222G>C (p.Ala408Pro) c.1240G>C (p.Ala414Pro) c.997G>C (p.Ala333Pro) c.1030G>C (p.Ala344Pro) c.1048G>C (p.Ala350Pro) | dbSNP |
2 | g.127428614G= | CA1286884553 | PROC | c.1054G= (p.Ala352=) c.378G= c.1156G= (p.Ala386=) c.1237G= (p.Ala413=) c.1219G= (p.Ala407=) c.1117G= (p.Ala373=) n.1332-350C= c.1297G= (p.Ala433=) c.1399G= (p.Ala467=) c.1339G= (p.Ala447=) n.3607-350C= n.4043-350C= c.1222G= (p.Ala408=) c.1240G= (p.Ala414=) c.997G= (p.Ala333=) c.1030G= (p.Ala344=) c.1048G= (p.Ala350=) | |
2 | g.127428614G>T | CA348405663 | PROC | c.1054G>T (p.Ala352Ser) c.378G>T c.1156G>T (p.Ala386Ser) c.1237G>T (p.Ala413Ser) c.1219G>T (p.Ala407Ser) c.1117G>T (p.Ala373Ser) n.1332-350C>A c.1297G>T (p.Ala433Ser) c.1399G>T (p.Ala467Ser) c.1339G>T (p.Ala447Ser) n.3607-350C>A n.4043-350C>A c.1222G>T (p.Ala408Ser) c.1240G>T (p.Ala414Ser) c.997G>T (p.Ala333Ser) c.1030G>T (p.Ala344Ser) c.1048G>T (p.Ala350Ser) | |
2 | g.127428615C>A | CA348405665 | PROC | c.1055C>A (p.Ala352Asp) c.379C>A c.1157C>A (p.Ala386Asp) c.1238C>A (p.Ala413Asp) c.1220C>A (p.Ala407Asp) c.1118C>A (p.Ala373Asp) n.1332-351G>T c.1298C>A (p.Ala433Asp) c.1400C>A (p.Ala467Asp) c.1340C>A (p.Ala447Asp) n.3607-351G>T n.4043-351G>T c.1223C>A (p.Ala408Asp) c.1241C>A (p.Ala414Asp) c.998C>A (p.Ala333Asp) c.1031C>A (p.Ala344Asp) c.1049C>A (p.Ala350Asp) | |
2 | g.127428615C>G | CA348405666 | PROC | c.1055C>G (p.Ala352Gly) c.379C>G c.1157C>G (p.Ala386Gly) c.1238C>G (p.Ala413Gly) c.1220C>G (p.Ala407Gly) c.1118C>G (p.Ala373Gly) n.1332-351G>C c.1298C>G (p.Ala433Gly) c.1400C>G (p.Ala467Gly) c.1340C>G (p.Ala447Gly) n.3607-351G>C n.4043-351G>C c.1223C>G (p.Ala408Gly) c.1241C>G (p.Ala414Gly) c.998C>G (p.Ala333Gly) c.1031C>G (p.Ala344Gly) c.1049C>G (p.Ala350Gly) | |
2 | g.127428615C>T | CA348405667 | PROC | c.1055C>T (p.Ala352Val) c.379C>T c.1157C>T (p.Ala386Val) c.1238C>T (p.Ala413Val) c.1220C>T (p.Ala407Val) c.1118C>T (p.Ala373Val) n.1332-351G>A c.1298C>T (p.Ala433Val) c.1400C>T (p.Ala467Val) c.1340C>T (p.Ala447Val) n.3607-351G>A n.4043-351G>A c.1223C>T (p.Ala408Val) c.1241C>T (p.Ala414Val) c.998C>T (p.Ala333Val) c.1031C>T (p.Ala344Val) c.1049C>T (p.Ala350Val) | |
2 | g.127428616C>A | CA428872925 | PROC | c.1056C>A (p.Ala352=) c.380C>A c.1158C>A (p.Ala386=) c.1239C>A (p.Ala413=) c.1221C>A (p.Ala407=) c.1119C>A (p.Ala373=) n.1332-352G>T c.1299C>A (p.Ala433=) c.1401C>A (p.Ala467=) c.1341C>A (p.Ala447=) n.3607-352G>T n.4043-352G>T c.1224C>A (p.Ala408=) c.1242C>A (p.Ala414=) c.999C>A (p.Ala333=) c.1032C>A (p.Ala344=) c.1050C>A (p.Ala350=) | |
2 | g.127428616C>G | CA428872929 | PROC | c.1056C>G (p.Ala352=) c.380C>G c.1158C>G (p.Ala386=) c.1239C>G (p.Ala413=) c.1221C>G (p.Ala407=) c.1119C>G (p.Ala373=) n.1332-352G>C c.1299C>G (p.Ala433=) c.1401C>G (p.Ala467=) c.1341C>G (p.Ala447=) n.3607-352G>C n.4043-352G>C c.1224C>G (p.Ala408=) c.1242C>G (p.Ala414=) c.999C>G (p.Ala333=) c.1032C>G (p.Ala344=) c.1050C>G (p.Ala350=) | |
2 | g.127428616C>T | CA428872927 | PROC | c.1056C>T (p.Ala352=) c.380C>T c.1158C>T (p.Ala386=) c.1239C>T (p.Ala413=) c.1221C>T (p.Ala407=) c.1119C>T (p.Ala373=) n.1332-352G>A c.1299C>T (p.Ala433=) c.1401C>T (p.Ala467=) c.1341C>T (p.Ala447=) n.3607-352G>A n.4043-352G>A c.1224C>T (p.Ala408=) c.1242C>T (p.Ala414=) c.999C>T (p.Ala333=) c.1032C>T (p.Ala344=) c.1050C>T (p.Ala350=) | |
2 | g.127428617A>C | CA348405668 | PROC | c.1057A>C (p.Lys353Gln) c.381A>C c.1159A>C (p.Lys387Gln) c.1240A>C (p.Lys414Gln) c.1222A>C (p.Lys408Gln) c.1120A>C (p.Lys374Gln) n.1332-353T>G c.1300A>C (p.Lys434Gln) c.1402A>C (p.Lys468Gln) c.1342A>C (p.Lys448Gln) n.3607-353T>G n.4043-353T>G c.1225A>C (p.Lys409Gln) c.1243A>C (p.Lys415Gln) c.1000A>C (p.Lys334Gln) c.1033A>C (p.Lys345Gln) c.1051A>C (p.Lys351Gln) | |
2 | g.127428617A>G | CA348405669 | PROC | c.1057A>G (p.Lys353Glu) c.381A>G c.1159A>G (p.Lys387Glu) c.1240A>G (p.Lys414Glu) c.1222A>G (p.Lys408Glu) c.1120A>G (p.Lys374Glu) n.1332-353T>C c.1300A>G (p.Lys434Glu) c.1402A>G (p.Lys468Glu) c.1342A>G (p.Lys448Glu) n.3607-353T>C n.4043-353T>C c.1225A>G (p.Lys409Glu) c.1243A>G (p.Lys415Glu) c.1000A>G (p.Lys334Glu) c.1033A>G (p.Lys345Glu) c.1051A>G (p.Lys351Glu) | |
2 | g.127428617A>T | CA348405670 | PROC | c.1057A>T (p.Lys353Ter) c.381A>T c.1159A>T (p.Lys387Ter) c.1240A>T (p.Lys414Ter) c.1222A>T (p.Lys408Ter) c.1120A>T (p.Lys374Ter) n.1332-353T>A c.1300A>T (p.Lys434Ter) c.1402A>T (p.Lys468Ter) c.1342A>T (p.Lys448Ter) n.3607-353T>A n.4043-353T>A c.1225A>T (p.Lys409Ter) c.1243A>T (p.Lys415Ter) c.1000A>T (p.Lys334Ter) c.1033A>T (p.Lys345Ter) c.1051A>T (p.Lys351Ter) | |
2 | g.127428618A= | CA1286884554 | PROC | c.1058A= (p.Lys353=) c.382A= c.1160A= (p.Lys387=) c.1241A= (p.Lys414=) c.1223A= (p.Lys408=) c.1121A= (p.Lys374=) n.1332-354T= c.1301A= (p.Lys434=) c.1403A= (p.Lys468=) c.1343A= (p.Lys448=) n.3607-354T= n.4043-354T= c.1226A= (p.Lys409=) c.1244A= (p.Lys415=) c.1001A= (p.Lys334=) c.1034A= (p.Lys345=) c.1052A= (p.Lys351=) | |
2 | g.127428618A>C | CA348405671 | PROC | c.1058A>C (p.Lys353Thr) c.382A>C c.1160A>C (p.Lys387Thr) c.1241A>C (p.Lys414Thr) c.1223A>C (p.Lys408Thr) c.1121A>C (p.Lys374Thr) n.1332-354T>G c.1301A>C (p.Lys434Thr) c.1403A>C (p.Lys468Thr) c.1343A>C (p.Lys448Thr) n.3607-354T>G n.4043-354T>G c.1226A>C (p.Lys409Thr) c.1244A>C (p.Lys415Thr) c.1001A>C (p.Lys334Thr) c.1034A>C (p.Lys345Thr) c.1052A>C (p.Lys351Thr) | |
2 | g.127428618A>G | CA1859512 | PROC | c.1058A>G (p.Lys353Arg) c.382A>G c.1160A>G (p.Lys387Arg) c.1241A>G (p.Lys414Arg) c.1223A>G (p.Lys408Arg) c.1121A>G (p.Lys374Arg) n.1332-354T>C c.1301A>G (p.Lys434Arg) c.1403A>G (p.Lys468Arg) c.1343A>G (p.Lys448Arg) n.3607-354T>C n.4043-354T>C c.1226A>G (p.Lys409Arg) c.1244A>G (p.Lys415Arg) c.1001A>G (p.Lys334Arg) c.1034A>G (p.Lys345Arg) c.1052A>G (p.Lys351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428618A>T | CA348405672 | PROC | c.1058A>T (p.Lys353Met) c.382A>T c.1160A>T (p.Lys387Met) c.1241A>T (p.Lys414Met) c.1223A>T (p.Lys408Met) c.1121A>T (p.Lys374Met) n.1332-354T>A c.1301A>T (p.Lys434Met) c.1403A>T (p.Lys468Met) c.1343A>T (p.Lys448Met) n.3607-354T>A n.4043-354T>A c.1226A>T (p.Lys409Met) c.1244A>T (p.Lys415Met) c.1001A>T (p.Lys334Met) c.1034A>T (p.Lys345Met) c.1052A>T (p.Lys351Met) | |
2 | g.127428619G>A | CA428872940 | PROC | c.1059G>A (p.Lys353=) c.383G>A c.1161G>A (p.Lys387=) c.1242G>A (p.Lys414=) c.1224G>A (p.Lys408=) c.1122G>A (p.Lys374=) n.1332-355C>T c.1302G>A (p.Lys434=) c.1404G>A (p.Lys468=) c.1344G>A (p.Lys448=) n.3607-355C>T n.4043-355C>T c.1227G>A (p.Lys409=) c.1245G>A (p.Lys415=) c.1002G>A (p.Lys334=) c.1035G>A (p.Lys345=) c.1053G>A (p.Lys351=) | gnomAD v4 |
2 | g.127428619G>C | CA348405674 | PROC | c.1059G>C (p.Lys353Asn) c.383G>C c.1161G>C (p.Lys387Asn) c.1242G>C (p.Lys414Asn) c.1224G>C (p.Lys408Asn) c.1122G>C (p.Lys374Asn) n.1332-355C>G c.1302G>C (p.Lys434Asn) c.1404G>C (p.Lys468Asn) c.1344G>C (p.Lys448Asn) n.3607-355C>G n.4043-355C>G c.1227G>C (p.Lys409Asn) c.1245G>C (p.Lys415Asn) c.1002G>C (p.Lys334Asn) c.1035G>C (p.Lys345Asn) c.1053G>C (p.Lys351Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428619G= | CA1286884555 | PROC | c.1059G= (p.Lys353=) c.383G= c.1161G= (p.Lys387=) c.1242G= (p.Lys414=) c.1224G= (p.Lys408=) c.1122G= (p.Lys374=) n.1332-355C= c.1302G= (p.Lys434=) c.1404G= (p.Lys468=) c.1344G= (p.Lys448=) n.3607-355C= n.4043-355C= c.1227G= (p.Lys409=) c.1245G= (p.Lys415=) c.1002G= (p.Lys334=) c.1035G= (p.Lys345=) c.1053G= (p.Lys351=) | |
2 | g.127428619G>T | CA348405675 | PROC | c.1059G>T (p.Lys353Asn) c.383G>T c.1161G>T (p.Lys387Asn) c.1242G>T (p.Lys414Asn) c.1224G>T (p.Lys408Asn) c.1122G>T (p.Lys374Asn) n.1332-355C>A c.1302G>T (p.Lys434Asn) c.1404G>T (p.Lys468Asn) c.1344G>T (p.Lys448Asn) n.3607-355C>A n.4043-355C>A c.1227G>T (p.Lys409Asn) c.1245G>T (p.Lys415Asn) c.1002G>T (p.Lys334Asn) c.1035G>T (p.Lys345Asn) c.1053G>T (p.Lys351Asn) | gnomAD v4 |
2 | g.127428620A>C | CA428872942 | PROC | c.1060A>C (p.Arg354=) c.384A>C c.1162A>C (p.Arg388=) c.1243A>C (p.Arg415=) c.1225A>C (p.Arg409=) c.1123A>C (p.Arg375=) n.1332-356T>G c.1303A>C (p.Arg435=) c.1405A>C (p.Arg469=) c.1345A>C (p.Arg449=) n.3607-356T>G n.4043-356T>G c.1228A>C (p.Arg410=) c.1246A>C (p.Arg416=) c.1003A>C (p.Arg335=) c.1036A>C (p.Arg346=) c.1054A>C (p.Arg352=) | |
2 | g.127428620A>G | CA348405676 | PROC | c.1060A>G (p.Arg354Gly) c.384A>G c.1162A>G (p.Arg388Gly) c.1243A>G (p.Arg415Gly) c.1225A>G (p.Arg409Gly) c.1123A>G (p.Arg375Gly) n.1332-356T>C c.1303A>G (p.Arg435Gly) c.1405A>G (p.Arg469Gly) c.1345A>G (p.Arg449Gly) n.3607-356T>C n.4043-356T>C c.1228A>G (p.Arg410Gly) c.1246A>G (p.Arg416Gly) c.1003A>G (p.Arg335Gly) c.1036A>G (p.Arg346Gly) c.1054A>G (p.Arg352Gly) | |
2 | g.127428620A>T | CA348405677 | PROC | c.1060A>T (p.Arg354Ter) c.384A>T c.1162A>T (p.Arg388Ter) c.1243A>T (p.Arg415Ter) c.1225A>T (p.Arg409Ter) c.1123A>T (p.Arg375Ter) n.1332-356T>A c.1303A>T (p.Arg435Ter) c.1405A>T (p.Arg469Ter) c.1345A>T (p.Arg449Ter) n.3607-356T>A n.4043-356T>A c.1228A>T (p.Arg410Ter) c.1246A>T (p.Arg416Ter) c.1003A>T (p.Arg335Ter) c.1036A>T (p.Arg346Ter) c.1054A>T (p.Arg352Ter) | |
2 | g.127428621G>A | CA1859513 | PROC | c.1061G>A (p.Arg354Lys) c.385G>A c.1163G>A (p.Arg388Lys) c.1244G>A (p.Arg415Lys) c.1226G>A (p.Arg409Lys) c.1124G>A (p.Arg375Lys) n.1332-357C>T c.1304G>A (p.Arg435Lys) c.1406G>A (p.Arg469Lys) c.1346G>A (p.Arg449Lys) n.3607-357C>T n.4043-357C>T c.1229G>A (p.Arg410Lys) c.1247G>A (p.Arg416Lys) c.1004G>A (p.Arg335Lys) c.1037G>A (p.Arg346Lys) c.1055G>A (p.Arg352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.127428621G>C | CA348405679 | PROC | c.1061G>C (p.Arg354Thr) c.385G>C c.1163G>C (p.Arg388Thr) c.1244G>C (p.Arg415Thr) c.1226G>C (p.Arg409Thr) c.1124G>C (p.Arg375Thr) n.1332-357C>G c.1304G>C (p.Arg435Thr) c.1406G>C (p.Arg469Thr) c.1346G>C (p.Arg449Thr) n.3607-357C>G n.4043-357C>G c.1229G>C (p.Arg410Thr) c.1247G>C (p.Arg416Thr) c.1004G>C (p.Arg335Thr) c.1037G>C (p.Arg346Thr) c.1055G>C (p.Arg352Thr) | |
2 | g.127428621G= | CA1286884556 | PROC | c.1061G= (p.Arg354=) c.385G= c.1163G= (p.Arg388=) c.1244G= (p.Arg415=) c.1226G= (p.Arg409=) c.1124G= (p.Arg375=) n.1332-357C= c.1304G= (p.Arg435=) c.1406G= (p.Arg469=) c.1346G= (p.Arg449=) n.3607-357C= n.4043-357C= c.1229G= (p.Arg410=) c.1247G= (p.Arg416=) c.1004G= (p.Arg335=) c.1037G= (p.Arg346=) c.1055G= (p.Arg352=) | |
2 | g.127428621G>T | CA348405678 | PROC | c.1061G>T (p.Arg354Ile) c.385G>T c.1163G>T (p.Arg388Ile) c.1244G>T (p.Arg415Ile) c.1226G>T (p.Arg409Ile) c.1124G>T (p.Arg375Ile) n.1332-357C>A c.1304G>T (p.Arg435Ile) c.1406G>T (p.Arg469Ile) c.1346G>T (p.Arg449Ile) n.3607-357C>A n.4043-357C>A c.1229G>T (p.Arg410Ile) c.1247G>T (p.Arg416Ile) c.1004G>T (p.Arg335Ile) c.1037G>T (p.Arg346Ile) c.1055G>T (p.Arg352Ile) | |
2 | g.127428622A>C | CA348405680 | PROC | c.1062A>C (p.Arg354Ser) c.386A>C c.1164A>C (p.Arg388Ser) c.1245A>C (p.Arg415Ser) c.1227A>C (p.Arg409Ser) c.1125A>C (p.Arg375Ser) n.1332-358T>G c.1305A>C (p.Arg435Ser) c.1407A>C (p.Arg469Ser) c.1347A>C (p.Arg449Ser) n.3607-358T>G n.4043-358T>G c.1230A>C (p.Arg410Ser) c.1248A>C (p.Arg416Ser) c.1005A>C (p.Arg335Ser) c.1038A>C (p.Arg346Ser) c.1056A>C (p.Arg352Ser) | |
2 | g.127428622A>G | CA428872953 | PROC | c.1062A>G (p.Arg354=) c.386A>G c.1164A>G (p.Arg388=) c.1245A>G (p.Arg415=) c.1227A>G (p.Arg409=) c.1125A>G (p.Arg375=) n.1332-358T>C c.1305A>G (p.Arg435=) c.1407A>G (p.Arg469=) c.1347A>G (p.Arg449=) n.3607-358T>C n.4043-358T>C c.1230A>G (p.Arg410=) c.1248A>G (p.Arg416=) c.1005A>G (p.Arg335=) c.1038A>G (p.Arg346=) c.1056A>G (p.Arg352=) | |
2 | g.127428622A>T | CA348405681 | PROC | c.1062A>T (p.Arg354Ser) c.386A>T c.1164A>T (p.Arg388Ser) c.1245A>T (p.Arg415Ser) c.1227A>T (p.Arg409Ser) c.1125A>T (p.Arg375Ser) n.1332-358T>A c.1305A>T (p.Arg435Ser) c.1407A>T (p.Arg469Ser) c.1347A>T (p.Arg449Ser) n.3607-358T>A n.4043-358T>A c.1230A>T (p.Arg410Ser) c.1248A>T (p.Arg416Ser) c.1005A>T (p.Arg335Ser) c.1038A>T (p.Arg346Ser) c.1056A>T (p.Arg352Ser) | |
2 | g.127428623A>C | CA348405682 | PROC | c.1063A>C (p.Asn355His) c.387A>C c.1165A>C (p.Asn389His) c.1246A>C (p.Asn416His) c.1228A>C (p.Asn410His) c.1126A>C (p.Asn376His) n.1332-359T>G c.1306A>C (p.Asn436His) c.1408A>C (p.Asn470His) c.1348A>C (p.Asn450His) n.3607-359T>G n.4043-359T>G c.1231A>C (p.Asn411His) c.1249A>C (p.Asn417His) c.1006A>C (p.Asn336His) c.1039A>C (p.Asn347His) c.1057A>C (p.Asn353His) | |
2 | g.127428623A>G | CA348405683 | PROC | c.1063A>G (p.Asn355Asp) c.387A>G c.1165A>G (p.Asn389Asp) c.1246A>G (p.Asn416Asp) c.1228A>G (p.Asn410Asp) c.1126A>G (p.Asn376Asp) n.1332-359T>C c.1306A>G (p.Asn436Asp) c.1408A>G (p.Asn470Asp) c.1348A>G (p.Asn450Asp) n.3607-359T>C n.4043-359T>C c.1231A>G (p.Asn411Asp) c.1249A>G (p.Asn417Asp) c.1006A>G (p.Asn336Asp) c.1039A>G (p.Asn347Asp) c.1057A>G (p.Asn353Asp) | |
2 | g.127428623A>T | CA348405684 | PROC | c.1063A>T (p.Asn355Tyr) c.387A>T c.1165A>T (p.Asn389Tyr) c.1246A>T (p.Asn416Tyr) c.1228A>T (p.Asn410Tyr) c.1126A>T (p.Asn376Tyr) n.1332-359T>A c.1306A>T (p.Asn436Tyr) c.1408A>T (p.Asn470Tyr) c.1348A>T (p.Asn450Tyr) n.3607-359T>A n.4043-359T>A c.1231A>T (p.Asn411Tyr) c.1249A>T (p.Asn417Tyr) c.1006A>T (p.Asn336Tyr) c.1039A>T (p.Asn347Tyr) c.1057A>T (p.Asn353Tyr) | |
2 | g.127428624A>C | CA348405686 | PROC | c.1064A>C (p.Asn355Thr) c.388A>C c.1166A>C (p.Asn389Thr) c.1247A>C (p.Asn416Thr) c.1229A>C (p.Asn410Thr) c.1127A>C (p.Asn376Thr) n.1332-360T>G c.1307A>C (p.Asn436Thr) c.1409A>C (p.Asn470Thr) c.1349A>C (p.Asn450Thr) n.3607-360T>G n.4043-360T>G c.1232A>C (p.Asn411Thr) c.1250A>C (p.Asn417Thr) c.1007A>C (p.Asn336Thr) c.1040A>C (p.Asn347Thr) c.1058A>C (p.Asn353Thr) | |
2 | g.127428624A>G | CA348405687 | PROC | c.1064A>G (p.Asn355Ser) c.388A>G c.1166A>G (p.Asn389Ser) c.1247A>G (p.Asn416Ser) c.1229A>G (p.Asn410Ser) c.1127A>G (p.Asn376Ser) n.1332-360T>C c.1307A>G (p.Asn436Ser) c.1409A>G (p.Asn470Ser) c.1349A>G (p.Asn450Ser) n.3607-360T>C n.4043-360T>C c.1232A>G (p.Asn411Ser) c.1250A>G (p.Asn417Ser) c.1007A>G (p.Asn336Ser) c.1040A>G (p.Asn347Ser) c.1058A>G (p.Asn353Ser) | |
2 | g.127428624A>T | CA348405688 | PROC | c.1064A>T (p.Asn355Ile) c.388A>T c.1166A>T (p.Asn389Ile) c.1247A>T (p.Asn416Ile) c.1229A>T (p.Asn410Ile) c.1127A>T (p.Asn376Ile) n.1332-360T>A c.1307A>T (p.Asn436Ile) c.1409A>T (p.Asn470Ile) c.1349A>T (p.Asn450Ile) n.3607-360T>A n.4043-360T>A c.1232A>T (p.Asn411Ile) c.1250A>T (p.Asn417Ile) c.1007A>T (p.Asn336Ile) c.1040A>T (p.Asn347Ile) c.1058A>T (p.Asn353Ile) | |
2 | g.127428625C>A | CA348405689 | PROC | c.1065C>A (p.Asn355Lys) c.389C>A c.1167C>A (p.Asn389Lys) c.1248C>A (p.Asn416Lys) c.1230C>A (p.Asn410Lys) c.1128C>A (p.Asn376Lys) n.1332-361G>T c.1308C>A (p.Asn436Lys) c.1410C>A (p.Asn470Lys) c.1350C>A (p.Asn450Lys) n.3607-361G>T n.4043-361G>T c.1233C>A (p.Asn411Lys) c.1251C>A (p.Asn417Lys) c.1008C>A (p.Asn336Lys) c.1041C>A (p.Asn347Lys) c.1059C>A (p.Asn353Lys) | |
2 | g.127428625C= | CA1286884557 | PROC | c.1065C= (p.Asn355=) c.389C= c.1167C= (p.Asn389=) c.1248C= (p.Asn416=) c.1230C= (p.Asn410=) c.1128C= (p.Asn376=) n.1332-361G= c.1308C= (p.Asn436=) c.1410C= (p.Asn470=) c.1350C= (p.Asn450=) n.3607-361G= n.4043-361G= c.1233C= (p.Asn411=) c.1251C= (p.Asn417=) c.1008C= (p.Asn336=) c.1041C= (p.Asn347=) c.1059C= (p.Asn353=) | |
2 | g.127428625C>G | CA348405690 | PROC | c.1065C>G (p.Asn355Lys) c.389C>G c.1167C>G (p.Asn389Lys) c.1248C>G (p.Asn416Lys) c.1230C>G (p.Asn410Lys) c.1128C>G (p.Asn376Lys) n.1332-361G>C c.1308C>G (p.Asn436Lys) c.1410C>G (p.Asn470Lys) c.1350C>G (p.Asn450Lys) n.3607-361G>C n.4043-361G>C c.1233C>G (p.Asn411Lys) c.1251C>G (p.Asn417Lys) c.1008C>G (p.Asn336Lys) c.1041C>G (p.Asn347Lys) c.1059C>G (p.Asn353Lys) | |
2 | g.127428625C>T | CA1859514 | PROC | c.1065C>T (p.Asn355=) c.389C>T c.1167C>T (p.Asn389=) c.1248C>T (p.Asn416=) c.1230C>T (p.Asn410=) c.1128C>T (p.Asn376=) n.1332-361G>A c.1308C>T (p.Asn436=) c.1410C>T (p.Asn470=) c.1350C>T (p.Asn450=) n.3607-361G>A n.4043-361G>A c.1233C>T (p.Asn411=) c.1251C>T (p.Asn417=) c.1008C>T (p.Asn336=) c.1041C>T (p.Asn347=) c.1059C>T (p.Asn353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428626del | CA2586969915 | PROC | c.1066del (p.Arg356AlafsTer22) c.390del c.1168del (p.Arg390AlafsTer22) c.1249del (p.Arg417AlafsTer22) c.1231del (p.Arg411AlafsTer22) c.1129del (p.Arg377AlafsTer22) n.1332-361del c.1309del (p.Arg437AlafsTer22) c.1411del (p.Arg471AlafsTer22) c.1351del (p.Arg451AlafsTer22) n.3607-361del n.4043-361del c.1234del (p.Arg412AlafsTer22) c.1252del (p.Arg418AlafsTer22) c.1009del (p.Arg337AlafsTer22) c.1042del (p.Arg348AlafsTer22) c.1060del (p.Arg354AlafsTer22) | |
2 | g.127428626C>A | CA348405691 | PROC | c.1066C>A (p.Arg356Ser) c.390C>A c.1168C>A (p.Arg390Ser) c.1249C>A (p.Arg417Ser) c.1231C>A (p.Arg411Ser) c.1129C>A (p.Arg377Ser) n.1332-362G>T c.1309C>A (p.Arg437Ser) c.1411C>A (p.Arg471Ser) c.1351C>A (p.Arg451Ser) n.3607-362G>T n.4043-362G>T c.1234C>A (p.Arg412Ser) c.1252C>A (p.Arg418Ser) c.1009C>A (p.Arg337Ser) c.1042C>A (p.Arg348Ser) c.1060C>A (p.Arg354Ser) | |
2 | g.127428626C= | CA1286884558 | PROC | c.1066C= (p.Arg356=) c.390C= c.1168C= (p.Arg390=) c.1249C= (p.Arg417=) c.1231C= (p.Arg411=) c.1129C= (p.Arg377=) n.1332-362G= c.1309C= (p.Arg437=) c.1411C= (p.Arg471=) c.1351C= (p.Arg451=) n.3607-362G= n.4043-362G= c.1234C= (p.Arg412=) c.1252C= (p.Arg418=) c.1009C= (p.Arg337=) c.1042C= (p.Arg348=) c.1060C= (p.Arg354=) | |
2 | g.127428626C>G | CA348405692 | PROC | c.1066C>G (p.Arg356Gly) c.390C>G c.1168C>G (p.Arg390Gly) c.1249C>G (p.Arg417Gly) c.1231C>G (p.Arg411Gly) c.1129C>G (p.Arg377Gly) n.1332-362G>C c.1309C>G (p.Arg437Gly) c.1411C>G (p.Arg471Gly) c.1351C>G (p.Arg451Gly) n.3607-362G>C n.4043-362G>C c.1234C>G (p.Arg412Gly) c.1252C>G (p.Arg418Gly) c.1009C>G (p.Arg337Gly) c.1042C>G (p.Arg348Gly) c.1060C>G (p.Arg354Gly) | |
2 | g.127428626C>T | CA1859515 | PROC | c.1066C>T (p.Arg356Cys) c.390C>T c.1168C>T (p.Arg390Cys) c.1249C>T (p.Arg417Cys) c.1231C>T (p.Arg411Cys) c.1129C>T (p.Arg377Cys) n.1332-362G>A c.1309C>T (p.Arg437Cys) c.1411C>T (p.Arg471Cys) c.1351C>T (p.Arg451Cys) n.3607-362G>A n.4043-362G>A c.1234C>T (p.Arg412Cys) c.1252C>T (p.Arg418Cys) c.1009C>T (p.Arg337Cys) c.1042C>T (p.Arg348Cys) c.1060C>T (p.Arg354Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428627G>A | CA1859516 | PROC | c.1067G>A (p.Arg356His) c.391G>A c.1169G>A (p.Arg390His) c.1250G>A (p.Arg417His) c.1232G>A (p.Arg411His) c.1130G>A (p.Arg377His) n.1332-363C>T c.1310G>A (p.Arg437His) c.1412G>A (p.Arg471His) c.1352G>A (p.Arg451His) n.3607-363C>T n.4043-363C>T c.1235G>A (p.Arg412His) c.1253G>A (p.Arg418His) c.1010G>A (p.Arg337His) c.1043G>A (p.Arg348His) c.1061G>A (p.Arg354His) | dbSNP ExAC gnomAD v2 |
2 | g.127428627G>C | CA348405693 | PROC | c.1067G>C (p.Arg356Pro) c.391G>C c.1169G>C (p.Arg390Pro) c.1250G>C (p.Arg417Pro) c.1232G>C (p.Arg411Pro) c.1130G>C (p.Arg377Pro) n.1332-363C>G c.1310G>C (p.Arg437Pro) c.1412G>C (p.Arg471Pro) c.1352G>C (p.Arg451Pro) n.3607-363C>G n.4043-363C>G c.1235G>C (p.Arg412Pro) c.1253G>C (p.Arg418Pro) c.1010G>C (p.Arg337Pro) c.1043G>C (p.Arg348Pro) c.1061G>C (p.Arg354Pro) | |
2 | g.127428627G= | CA1286884559 | PROC | c.1067G= (p.Arg356=) c.391G= c.1169G= (p.Arg390=) c.1250G= (p.Arg417=) c.1232G= (p.Arg411=) c.1130G= (p.Arg377=) n.1332-363C= c.1310G= (p.Arg437=) c.1412G= (p.Arg471=) c.1352G= (p.Arg451=) n.3607-363C= n.4043-363C= c.1235G= (p.Arg412=) c.1253G= (p.Arg418=) c.1010G= (p.Arg337=) c.1043G= (p.Arg348=) c.1061G= (p.Arg354=) | |
2 | g.127428627G>T | CA55351038 | PROC | c.1067G>T (p.Arg356Leu) c.391G>T c.1169G>T (p.Arg390Leu) c.1250G>T (p.Arg417Leu) c.1232G>T (p.Arg411Leu) c.1130G>T (p.Arg377Leu) n.1332-363C>A c.1310G>T (p.Arg437Leu) c.1412G>T (p.Arg471Leu) c.1352G>T (p.Arg451Leu) n.3607-363C>A n.4043-363C>A c.1235G>T (p.Arg412Leu) c.1253G>T (p.Arg418Leu) c.1010G>T (p.Arg337Leu) c.1043G>T (p.Arg348Leu) c.1061G>T (p.Arg354Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428628C>A | CA428872972 | PROC | c.1068C>A (p.Arg356=) c.392C>A c.1170C>A (p.Arg390=) c.1251C>A (p.Arg417=) c.1233C>A (p.Arg411=) c.1131C>A (p.Arg377=) n.1332-364G>T c.1311C>A (p.Arg437=) c.1413C>A (p.Arg471=) c.1353C>A (p.Arg451=) n.3607-364G>T n.4043-364G>T c.1236C>A (p.Arg412=) c.1254C>A (p.Arg418=) c.1011C>A (p.Arg337=) c.1044C>A (p.Arg348=) c.1062C>A (p.Arg354=) | |
2 | g.127428628C= | CA1286884560 | PROC | c.1068C= (p.Arg356=) c.392C= c.1170C= (p.Arg390=) c.1251C= (p.Arg417=) c.1233C= (p.Arg411=) c.1131C= (p.Arg377=) n.1332-364G= c.1311C= (p.Arg437=) c.1413C= (p.Arg471=) c.1353C= (p.Arg451=) n.3607-364G= n.4043-364G= c.1236C= (p.Arg412=) c.1254C= (p.Arg418=) c.1011C= (p.Arg337=) c.1044C= (p.Arg348=) c.1062C= (p.Arg354=) | |
2 | g.127428628C>G | CA428872974 | PROC | c.1068C>G (p.Arg356=) c.392C>G c.1170C>G (p.Arg390=) c.1251C>G (p.Arg417=) c.1233C>G (p.Arg411=) c.1131C>G (p.Arg377=) n.1332-364G>C c.1311C>G (p.Arg437=) c.1413C>G (p.Arg471=) c.1353C>G (p.Arg451=) n.3607-364G>C n.4043-364G>C c.1236C>G (p.Arg412=) c.1254C>G (p.Arg418=) c.1011C>G (p.Arg337=) c.1044C>G (p.Arg348=) c.1062C>G (p.Arg354=) | |
2 | g.127428628C>T | CA428872976 | PROC | c.1068C>T (p.Arg356=) c.392C>T c.1170C>T (p.Arg390=) c.1251C>T (p.Arg417=) c.1233C>T (p.Arg411=) c.1131C>T (p.Arg377=) n.1332-364G>A c.1311C>T (p.Arg437=) c.1413C>T (p.Arg471=) c.1353C>T (p.Arg451=) n.3607-364G>A n.4043-364G>A c.1236C>T (p.Arg412=) c.1254C>T (p.Arg418=) c.1011C>T (p.Arg337=) c.1044C>T (p.Arg348=) c.1062C>T (p.Arg354=) | dbSNP |
2 | g.127428629A>C | CA348405694 | PROC | c.1069A>C (p.Thr357Pro) c.393A>C c.1171A>C (p.Thr391Pro) c.1252A>C (p.Thr418Pro) c.1234A>C (p.Thr412Pro) c.1132A>C (p.Thr378Pro) n.1332-365T>G c.1312A>C (p.Thr438Pro) c.1414A>C (p.Thr472Pro) c.1354A>C (p.Thr452Pro) n.3607-365T>G n.4043-365T>G c.1237A>C (p.Thr413Pro) c.1255A>C (p.Thr419Pro) c.1012A>C (p.Thr338Pro) c.1045A>C (p.Thr349Pro) c.1063A>C (p.Thr355Pro) | |
2 | g.127428629A>G | CA348405695 | PROC | c.1069A>G (p.Thr357Ala) c.393A>G c.1171A>G (p.Thr391Ala) c.1252A>G (p.Thr418Ala) c.1234A>G (p.Thr412Ala) c.1132A>G (p.Thr378Ala) n.1332-365T>C c.1312A>G (p.Thr438Ala) c.1414A>G (p.Thr472Ala) c.1354A>G (p.Thr452Ala) n.3607-365T>C n.4043-365T>C c.1237A>G (p.Thr413Ala) c.1255A>G (p.Thr419Ala) c.1012A>G (p.Thr338Ala) c.1045A>G (p.Thr349Ala) c.1063A>G (p.Thr355Ala) | |
2 | g.127428629A>T | CA348405696 | PROC | c.1069A>T (p.Thr357Ser) c.393A>T c.1171A>T (p.Thr391Ser) c.1252A>T (p.Thr418Ser) c.1234A>T (p.Thr412Ser) c.1132A>T (p.Thr378Ser) n.1332-365T>A c.1312A>T (p.Thr438Ser) c.1414A>T (p.Thr472Ser) c.1354A>T (p.Thr452Ser) n.3607-365T>A n.4043-365T>A c.1237A>T (p.Thr413Ser) c.1255A>T (p.Thr419Ser) c.1012A>T (p.Thr338Ser) c.1045A>T (p.Thr349Ser) c.1063A>T (p.Thr355Ser) | |
2 | g.127428630C>A | CA348405697 | PROC | c.1070C>A (p.Thr357Asn) c.394C>A c.1172C>A (p.Thr391Asn) c.1253C>A (p.Thr418Asn) c.1235C>A (p.Thr412Asn) c.1133C>A (p.Thr378Asn) n.1332-366G>T c.1313C>A (p.Thr438Asn) c.1415C>A (p.Thr472Asn) c.1355C>A (p.Thr452Asn) n.3607-366G>T n.4043-366G>T c.1238C>A (p.Thr413Asn) c.1256C>A (p.Thr419Asn) c.1013C>A (p.Thr338Asn) c.1046C>A (p.Thr349Asn) c.1064C>A (p.Thr355Asn) | |
2 | g.127428630C>G | CA348405698 | PROC | c.1070C>G (p.Thr357Ser) c.394C>G c.1172C>G (p.Thr391Ser) c.1253C>G (p.Thr418Ser) c.1235C>G (p.Thr412Ser) c.1133C>G (p.Thr378Ser) n.1332-366G>C c.1313C>G (p.Thr438Ser) c.1415C>G (p.Thr472Ser) c.1355C>G (p.Thr452Ser) n.3607-366G>C n.4043-366G>C c.1238C>G (p.Thr413Ser) c.1256C>G (p.Thr419Ser) c.1013C>G (p.Thr338Ser) c.1046C>G (p.Thr349Ser) c.1064C>G (p.Thr355Ser) | |
2 | g.127428630C>T | CA348405699 | PROC | c.1070C>T (p.Thr357Ile) c.394C>T c.1172C>T (p.Thr391Ile) c.1253C>T (p.Thr418Ile) c.1235C>T (p.Thr412Ile) c.1133C>T (p.Thr378Ile) n.1332-366G>A c.1313C>T (p.Thr438Ile) c.1415C>T (p.Thr472Ile) c.1355C>T (p.Thr452Ile) n.3607-366G>A n.4043-366G>A c.1238C>T (p.Thr413Ile) c.1256C>T (p.Thr419Ile) c.1013C>T (p.Thr338Ile) c.1046C>T (p.Thr349Ile) c.1064C>T (p.Thr355Ile) | |
2 | g.127428631C>A | CA428872986 | PROC | c.1071C>A (p.Thr357=) c.395C>A c.1173C>A (p.Thr391=) c.1254C>A (p.Thr418=) c.1236C>A (p.Thr412=) c.1134C>A (p.Thr378=) n.1332-367G>T c.1314C>A (p.Thr438=) c.1416C>A (p.Thr472=) c.1356C>A (p.Thr452=) n.3607-367G>T n.4043-367G>T c.1239C>A (p.Thr413=) c.1257C>A (p.Thr419=) c.1014C>A (p.Thr338=) c.1047C>A (p.Thr349=) c.1065C>A (p.Thr355=) | |
2 | g.127428631C>G | CA428872989 | PROC | c.1071C>G (p.Thr357=) c.395C>G c.1173C>G (p.Thr391=) c.1254C>G (p.Thr418=) c.1236C>G (p.Thr412=) c.1134C>G (p.Thr378=) n.1332-367G>C c.1314C>G (p.Thr438=) c.1416C>G (p.Thr472=) c.1356C>G (p.Thr452=) n.3607-367G>C n.4043-367G>C c.1239C>G (p.Thr413=) c.1257C>G (p.Thr419=) c.1014C>G (p.Thr338=) c.1047C>G (p.Thr349=) c.1065C>G (p.Thr355=) | |
2 | g.127428631C>T | CA428872991 | PROC | c.1071C>T (p.Thr357=) c.395C>T c.1173C>T (p.Thr391=) c.1254C>T (p.Thr418=) c.1236C>T (p.Thr412=) c.1134C>T (p.Thr378=) n.1332-367G>A c.1314C>T (p.Thr438=) c.1416C>T (p.Thr472=) c.1356C>T (p.Thr452=) n.3607-367G>A n.4043-367G>A c.1239C>T (p.Thr413=) c.1257C>T (p.Thr419=) c.1014C>T (p.Thr338=) c.1047C>T (p.Thr349=) c.1065C>T (p.Thr355=) | |
2 | g.127428632T>A | CA348405700 | PROC | c.1072T>A (p.Phe358Ile) c.396T>A c.1174T>A (p.Phe392Ile) c.1255T>A (p.Phe419Ile) c.1237T>A (p.Phe413Ile) c.1135T>A (p.Phe379Ile) n.1332-368A>T c.1315T>A (p.Phe439Ile) c.1417T>A (p.Phe473Ile) c.1357T>A (p.Phe453Ile) n.3607-368A>T n.4043-368A>T c.1240T>A (p.Phe414Ile) c.1258T>A (p.Phe420Ile) c.1015T>A (p.Phe339Ile) c.1048T>A (p.Phe350Ile) c.1066T>A (p.Phe356Ile) | |
2 | g.127428632T>C | CA348405701 | PROC | c.1072T>C (p.Phe358Leu) c.396T>C c.1174T>C (p.Phe392Leu) c.1255T>C (p.Phe419Leu) c.1237T>C (p.Phe413Leu) c.1135T>C (p.Phe379Leu) n.1332-368A>G c.1315T>C (p.Phe439Leu) c.1417T>C (p.Phe473Leu) c.1357T>C (p.Phe453Leu) n.3607-368A>G n.4043-368A>G c.1240T>C (p.Phe414Leu) c.1258T>C (p.Phe420Leu) c.1015T>C (p.Phe339Leu) c.1048T>C (p.Phe350Leu) c.1066T>C (p.Phe356Leu) | dbSNP gnomAD v2 |
2 | g.127428632T>G | CA348405702 | PROC | c.1072T>G (p.Phe358Val) c.396T>G c.1174T>G (p.Phe392Val) c.1255T>G (p.Phe419Val) c.1237T>G (p.Phe413Val) c.1135T>G (p.Phe379Val) n.1332-368A>C c.1315T>G (p.Phe439Val) c.1417T>G (p.Phe473Val) c.1357T>G (p.Phe453Val) n.3607-368A>C n.4043-368A>C c.1240T>G (p.Phe414Val) c.1258T>G (p.Phe420Val) c.1015T>G (p.Phe339Val) c.1048T>G (p.Phe350Val) c.1066T>G (p.Phe356Val) | |
2 | g.127428632T= | CA1286884561 | PROC | c.1072T= (p.Phe358=) c.396T= c.1174T= (p.Phe392=) c.1255T= (p.Phe419=) c.1237T= (p.Phe413=) c.1135T= (p.Phe379=) n.1332-368A= c.1315T= (p.Phe439=) c.1417T= (p.Phe473=) c.1357T= (p.Phe453=) n.3607-368A= n.4043-368A= c.1240T= (p.Phe414=) c.1258T= (p.Phe420=) c.1015T= (p.Phe339=) c.1048T= (p.Phe350=) c.1066T= (p.Phe356=) | |
2 | g.127428633T>A | CA348405703 | PROC | c.1073T>A (p.Phe358Tyr) c.397T>A c.1175T>A (p.Phe392Tyr) c.1256T>A (p.Phe419Tyr) c.1238T>A (p.Phe413Tyr) c.1136T>A (p.Phe379Tyr) n.1332-369A>T c.1316T>A (p.Phe439Tyr) c.1418T>A (p.Phe473Tyr) c.1358T>A (p.Phe453Tyr) n.3607-369A>T n.4043-369A>T c.1241T>A (p.Phe414Tyr) c.1259T>A (p.Phe420Tyr) c.1016T>A (p.Phe339Tyr) c.1049T>A (p.Phe350Tyr) c.1067T>A (p.Phe356Tyr) | |
2 | g.127428633T>C | CA348405704 | PROC | c.1073T>C (p.Phe358Ser) c.397T>C c.1175T>C (p.Phe392Ser) c.1256T>C (p.Phe419Ser) c.1238T>C (p.Phe413Ser) c.1136T>C (p.Phe379Ser) n.1332-369A>G c.1316T>C (p.Phe439Ser) c.1418T>C (p.Phe473Ser) c.1358T>C (p.Phe453Ser) n.3607-369A>G n.4043-369A>G c.1241T>C (p.Phe414Ser) c.1259T>C (p.Phe420Ser) c.1016T>C (p.Phe339Ser) c.1049T>C (p.Phe350Ser) c.1067T>C (p.Phe356Ser) | |
2 | g.127428633T>G | CA348405705 | PROC | c.1073T>G (p.Phe358Cys) c.397T>G c.1175T>G (p.Phe392Cys) c.1256T>G (p.Phe419Cys) c.1238T>G (p.Phe413Cys) c.1136T>G (p.Phe379Cys) n.1332-369A>C c.1316T>G (p.Phe439Cys) c.1418T>G (p.Phe473Cys) c.1358T>G (p.Phe453Cys) n.3607-369A>C n.4043-369A>C c.1241T>G (p.Phe414Cys) c.1259T>G (p.Phe420Cys) c.1016T>G (p.Phe339Cys) c.1049T>G (p.Phe350Cys) c.1067T>G (p.Phe356Cys) | |
2 | g.127428634C>A | CA55351063 | PROC | c.1074C>A (p.Phe358Leu) c.398C>A c.1176C>A (p.Phe392Leu) c.1257C>A (p.Phe419Leu) c.1239C>A (p.Phe413Leu) c.1137C>A (p.Phe379Leu) n.1332-370G>T c.1317C>A (p.Phe439Leu) c.1419C>A (p.Phe473Leu) c.1359C>A (p.Phe453Leu) n.3607-370G>T n.4043-370G>T c.1242C>A (p.Phe414Leu) c.1260C>A (p.Phe420Leu) c.1017C>A (p.Phe339Leu) c.1050C>A (p.Phe350Leu) c.1068C>A (p.Phe356Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428634C= | CA1286884562 | PROC | c.1074C= (p.Phe358=) c.398C= c.1176C= (p.Phe392=) c.1257C= (p.Phe419=) c.1239C= (p.Phe413=) c.1137C= (p.Phe379=) n.1332-370G= c.1317C= (p.Phe439=) c.1419C= (p.Phe473=) c.1359C= (p.Phe453=) n.3607-370G= n.4043-370G= c.1242C= (p.Phe414=) c.1260C= (p.Phe420=) c.1017C= (p.Phe339=) c.1050C= (p.Phe350=) c.1068C= (p.Phe356=) | |
2 | g.127428634C>G | CA348405706 | PROC | c.1074C>G (p.Phe358Leu) c.398C>G c.1176C>G (p.Phe392Leu) c.1257C>G (p.Phe419Leu) c.1239C>G (p.Phe413Leu) c.1137C>G (p.Phe379Leu) n.1332-370G>C c.1317C>G (p.Phe439Leu) c.1419C>G (p.Phe473Leu) c.1359C>G (p.Phe453Leu) n.3607-370G>C n.4043-370G>C c.1242C>G (p.Phe414Leu) c.1260C>G (p.Phe420Leu) c.1017C>G (p.Phe339Leu) c.1050C>G (p.Phe350Leu) c.1068C>G (p.Phe356Leu) | |
2 | g.127428634C>T | CA1859517 | PROC | c.1074C>T (p.Phe358=) c.398C>T c.1176C>T (p.Phe392=) c.1257C>T (p.Phe419=) c.1239C>T (p.Phe413=) c.1137C>T (p.Phe379=) n.1332-370G>A c.1317C>T (p.Phe439=) c.1419C>T (p.Phe473=) c.1359C>T (p.Phe453=) n.3607-370G>A n.4043-370G>A c.1242C>T (p.Phe414=) c.1260C>T (p.Phe420=) c.1017C>T (p.Phe339=) c.1050C>T (p.Phe350=) c.1068C>T (p.Phe356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428635G>A | CA1859518 | PROC | c.1075G>A (p.Val359Ile) c.399G>A c.1177G>A (p.Val393Ile) c.1258G>A (p.Val420Ile) c.1240G>A (p.Val414Ile) c.1138G>A (p.Val380Ile) n.1332-371C>T c.1318G>A (p.Val440Ile) c.1420G>A (p.Val474Ile) c.1360G>A (p.Val454Ile) n.3607-371C>T n.4043-371C>T c.1243G>A (p.Val415Ile) c.1261G>A (p.Val421Ile) c.1018G>A (p.Val340Ile) c.1051G>A (p.Val351Ile) c.1069G>A (p.Val357Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428635G>C | CA348405707 | PROC | c.1075G>C (p.Val359Leu) c.399G>C c.1177G>C (p.Val393Leu) c.1258G>C (p.Val420Leu) c.1240G>C (p.Val414Leu) c.1138G>C (p.Val380Leu) n.1332-371C>G c.1318G>C (p.Val440Leu) c.1420G>C (p.Val474Leu) c.1360G>C (p.Val454Leu) n.3607-371C>G n.4043-371C>G c.1243G>C (p.Val415Leu) c.1261G>C (p.Val421Leu) c.1018G>C (p.Val340Leu) c.1051G>C (p.Val351Leu) c.1069G>C (p.Val357Leu) | |
2 | g.127428635G= | CA1286884563 | PROC | c.1075G= (p.Val359=) c.399G= c.1177G= (p.Val393=) c.1258G= (p.Val420=) c.1240G= (p.Val414=) c.1138G= (p.Val380=) n.1332-371C= c.1318G= (p.Val440=) c.1420G= (p.Val474=) c.1360G= (p.Val454=) n.3607-371C= n.4043-371C= c.1243G= (p.Val415=) c.1261G= (p.Val421=) c.1018G= (p.Val340=) c.1051G= (p.Val351=) c.1069G= (p.Val357=) | |
2 | g.127428635G>T | CA1859519 | PROC | c.1075G>T (p.Val359Phe) c.399G>T c.1177G>T (p.Val393Phe) c.1258G>T (p.Val420Phe) c.1240G>T (p.Val414Phe) c.1138G>T (p.Val380Phe) n.1332-371C>A c.1318G>T (p.Val440Phe) c.1420G>T (p.Val474Phe) c.1360G>T (p.Val454Phe) n.3607-371C>A n.4043-371C>A c.1243G>T (p.Val415Phe) c.1261G>T (p.Val421Phe) c.1018G>T (p.Val340Phe) c.1051G>T (p.Val351Phe) c.1069G>T (p.Val357Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428636T>A | CA348405708 | PROC | c.1076T>A (p.Val359Asp) c.400T>A c.1178T>A (p.Val393Asp) c.1259T>A (p.Val420Asp) c.1241T>A (p.Val414Asp) c.1139T>A (p.Val380Asp) n.1332-372A>T c.1319T>A (p.Val440Asp) c.1421T>A (p.Val474Asp) c.1361T>A (p.Val454Asp) n.3607-372A>T n.4043-372A>T c.1244T>A (p.Val415Asp) c.1262T>A (p.Val421Asp) c.1019T>A (p.Val340Asp) c.1052T>A (p.Val351Asp) c.1070T>A (p.Val357Asp) | |
2 | g.127428636T>C | CA348405709 | PROC | c.1076T>C (p.Val359Ala) c.400T>C c.1178T>C (p.Val393Ala) c.1259T>C (p.Val420Ala) c.1241T>C (p.Val414Ala) c.1139T>C (p.Val380Ala) n.1332-372A>G c.1319T>C (p.Val440Ala) c.1421T>C (p.Val474Ala) c.1361T>C (p.Val454Ala) n.3607-372A>G n.4043-372A>G c.1244T>C (p.Val415Ala) c.1262T>C (p.Val421Ala) c.1019T>C (p.Val340Ala) c.1052T>C (p.Val351Ala) c.1070T>C (p.Val357Ala) | |
2 | g.127428636T>G | CA348405710 | PROC | c.1076T>G (p.Val359Gly) c.400T>G c.1178T>G (p.Val393Gly) c.1259T>G (p.Val420Gly) c.1241T>G (p.Val414Gly) c.1139T>G (p.Val380Gly) n.1332-372A>C c.1319T>G (p.Val440Gly) c.1421T>G (p.Val474Gly) c.1361T>G (p.Val454Gly) n.3607-372A>C n.4043-372A>C c.1244T>G (p.Val415Gly) c.1262T>G (p.Val421Gly) c.1019T>G (p.Val340Gly) c.1052T>G (p.Val351Gly) c.1070T>G (p.Val357Gly) | |
2 | g.127428637C>A | CA428873018 | PROC | c.1077C>A (p.Val359=) c.401C>A c.1179C>A (p.Val393=) c.1260C>A (p.Val420=) c.1242C>A (p.Val414=) c.1140C>A (p.Val380=) n.1332-373G>T c.1320C>A (p.Val440=) c.1422C>A (p.Val474=) c.1362C>A (p.Val454=) n.3607-373G>T n.4043-373G>T c.1245C>A (p.Val415=) c.1263C>A (p.Val421=) c.1020C>A (p.Val340=) c.1053C>A (p.Val351=) c.1071C>A (p.Val357=) | |
2 | g.127428637C= | CA1286884564 | PROC | c.1077C= (p.Val359=) c.401C= c.1179C= (p.Val393=) c.1260C= (p.Val420=) c.1242C= (p.Val414=) c.1140C= (p.Val380=) n.1332-373G= c.1320C= (p.Val440=) c.1422C= (p.Val474=) c.1362C= (p.Val454=) n.3607-373G= n.4043-373G= c.1245C= (p.Val415=) c.1263C= (p.Val421=) c.1020C= (p.Val340=) c.1053C= (p.Val351=) c.1071C= (p.Val357=) | |
2 | g.127428637C>G | CA1859520 | PROC | c.1077C>G (p.Val359=) c.401C>G c.1179C>G (p.Val393=) c.1260C>G (p.Val420=) c.1242C>G (p.Val414=) c.1140C>G (p.Val380=) n.1332-373G>C c.1320C>G (p.Val440=) c.1422C>G (p.Val474=) c.1362C>G (p.Val454=) n.3607-373G>C n.4043-373G>C c.1245C>G (p.Val415=) c.1263C>G (p.Val421=) c.1020C>G (p.Val340=) c.1053C>G (p.Val351=) c.1071C>G (p.Val357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428637C>T | CA428873017 | PROC | c.1077C>T (p.Val359=) c.401C>T c.1179C>T (p.Val393=) c.1260C>T (p.Val420=) c.1242C>T (p.Val414=) c.1140C>T (p.Val380=) n.1332-373G>A c.1320C>T (p.Val440=) c.1422C>T (p.Val474=) c.1362C>T (p.Val454=) n.3607-373G>A n.4043-373G>A c.1245C>T (p.Val415=) c.1263C>T (p.Val421=) c.1020C>T (p.Val340=) c.1053C>T (p.Val351=) c.1071C>T (p.Val357=) | |
2 | g.127428638C>A | CA348405711 | PROC | c.1078C>A (p.Leu360Ile) c.402C>A c.1180C>A (p.Leu394Ile) c.1261C>A (p.Leu421Ile) c.1243C>A (p.Leu415Ile) c.1141C>A (p.Leu381Ile) n.1332-374G>T c.1321C>A (p.Leu441Ile) c.1423C>A (p.Leu475Ile) c.1363C>A (p.Leu455Ile) n.3607-374G>T n.4043-374G>T c.1246C>A (p.Leu416Ile) c.1264C>A (p.Leu422Ile) c.1021C>A (p.Leu341Ile) c.1054C>A (p.Leu352Ile) c.1072C>A (p.Leu358Ile) | |
2 | g.127428638C>G | CA348405712 | PROC | c.1078C>G (p.Leu360Val) c.402C>G c.1180C>G (p.Leu394Val) c.1261C>G (p.Leu421Val) c.1243C>G (p.Leu415Val) c.1141C>G (p.Leu381Val) n.1332-374G>C c.1321C>G (p.Leu441Val) c.1423C>G (p.Leu475Val) c.1363C>G (p.Leu455Val) n.3607-374G>C n.4043-374G>C c.1246C>G (p.Leu416Val) c.1264C>G (p.Leu422Val) c.1021C>G (p.Leu341Val) c.1054C>G (p.Leu352Val) c.1072C>G (p.Leu358Val) | |
2 | g.127428638C>T | CA348405713 | PROC | c.1078C>T (p.Leu360Phe) c.402C>T c.1180C>T (p.Leu394Phe) c.1261C>T (p.Leu421Phe) c.1243C>T (p.Leu415Phe) c.1141C>T (p.Leu381Phe) n.1332-374G>A c.1321C>T (p.Leu441Phe) c.1423C>T (p.Leu475Phe) c.1363C>T (p.Leu455Phe) n.3607-374G>A n.4043-374G>A c.1246C>T (p.Leu416Phe) c.1264C>T (p.Leu422Phe) c.1021C>T (p.Leu341Phe) c.1054C>T (p.Leu352Phe) c.1072C>T (p.Leu358Phe) | |
2 | g.127428639T>A | CA348405714 | PROC | c.1079T>A (p.Leu360His) c.403T>A c.1181T>A (p.Leu394His) c.1262T>A (p.Leu421His) c.1244T>A (p.Leu415His) c.1142T>A (p.Leu381His) n.1332-375A>T c.1322T>A (p.Leu441His) c.1424T>A (p.Leu475His) c.1364T>A (p.Leu455His) n.3607-375A>T n.4043-375A>T c.1247T>A (p.Leu416His) c.1265T>A (p.Leu422His) c.1022T>A (p.Leu341His) c.1055T>A (p.Leu352His) c.1073T>A (p.Leu358His) | |
2 | g.127428639T>C | CA348405715 | PROC | c.1079T>C (p.Leu360Pro) c.403T>C c.1181T>C (p.Leu394Pro) c.1262T>C (p.Leu421Pro) c.1244T>C (p.Leu415Pro) c.1142T>C (p.Leu381Pro) n.1332-375A>G c.1322T>C (p.Leu441Pro) c.1424T>C (p.Leu475Pro) c.1364T>C (p.Leu455Pro) n.3607-375A>G n.4043-375A>G c.1247T>C (p.Leu416Pro) c.1265T>C (p.Leu422Pro) c.1022T>C (p.Leu341Pro) c.1055T>C (p.Leu352Pro) c.1073T>C (p.Leu358Pro) | |
2 | g.127428639T>G | CA348405716 | PROC | c.1079T>G (p.Leu360Arg) c.403T>G c.1181T>G (p.Leu394Arg) c.1262T>G (p.Leu421Arg) c.1244T>G (p.Leu415Arg) c.1142T>G (p.Leu381Arg) n.1332-375A>C c.1322T>G (p.Leu441Arg) c.1424T>G (p.Leu475Arg) c.1364T>G (p.Leu455Arg) n.3607-375A>C n.4043-375A>C c.1247T>G (p.Leu416Arg) c.1265T>G (p.Leu422Arg) c.1022T>G (p.Leu341Arg) c.1055T>G (p.Leu352Arg) c.1073T>G (p.Leu358Arg) | |
2 | g.127428642_127428647del | CA2586969916 | PROC | c.1082_1087del (p.Asn361_Phe362del) c.406_411del c.1184_1189del (p.Asn395_Phe396del) c.1265_1270del (p.Asn422_Phe423del) c.1247_1252del (p.Asn416_Phe417del) c.1145_1150del (p.Asn382_Phe383del) n.1332-380_1332-375del c.1325_1330del (p.Asn442_Phe443del) c.1427_1432del (p.Asn476_Phe477del) c.1367_1372del (p.Asn456_Phe457del) n.3607-380_3607-375del n.4043-380_4043-375del c.1250_1255del (p.Asn417_Phe418del) c.1268_1273del (p.Asn423_Phe424del) c.1025_1030del (p.Asn342_Phe343del) c.1058_1063del (p.Asn353_Phe354del) c.1076_1081del (p.Asn359_Phe360del) | |
2 | g.127428640C>A | CA428873022 | PROC | c.1080C>A (p.Leu360=) c.404C>A c.1182C>A (p.Leu394=) c.1263C>A (p.Leu421=) c.1245C>A (p.Leu415=) c.1143C>A (p.Leu381=) n.1332-376G>T c.1323C>A (p.Leu441=) c.1425C>A (p.Leu475=) c.1365C>A (p.Leu455=) n.3607-376G>T n.4043-376G>T c.1248C>A (p.Leu416=) c.1266C>A (p.Leu422=) c.1023C>A (p.Leu341=) c.1056C>A (p.Leu352=) c.1074C>A (p.Leu358=) | |
2 | g.127428640C>G | CA428873021 | PROC | c.1080C>G (p.Leu360=) c.404C>G c.1182C>G (p.Leu394=) c.1263C>G (p.Leu421=) c.1245C>G (p.Leu415=) c.1143C>G (p.Leu381=) n.1332-376G>C c.1323C>G (p.Leu441=) c.1425C>G (p.Leu475=) c.1365C>G (p.Leu455=) n.3607-376G>C n.4043-376G>C c.1248C>G (p.Leu416=) c.1266C>G (p.Leu422=) c.1023C>G (p.Leu341=) c.1056C>G (p.Leu352=) c.1074C>G (p.Leu358=) | ClinVar dbSNP |
2 | g.127428640C>T | CA428873020 | PROC | c.1080C>T (p.Leu360=) c.404C>T c.1182C>T (p.Leu394=) c.1263C>T (p.Leu421=) c.1245C>T (p.Leu415=) c.1143C>T (p.Leu381=) n.1332-376G>A c.1323C>T (p.Leu441=) c.1425C>T (p.Leu475=) c.1365C>T (p.Leu455=) n.3607-376G>A n.4043-376G>A c.1248C>T (p.Leu416=) c.1266C>T (p.Leu422=) c.1023C>T (p.Leu341=) c.1056C>T (p.Leu352=) c.1074C>T (p.Leu358=) | |
2 | g.127428641A>C | CA348405718 | PROC | c.1081A>C (p.Asn361His) c.405A>C c.1183A>C (p.Asn395His) c.1264A>C (p.Asn422His) c.1246A>C (p.Asn416His) c.1144A>C (p.Asn382His) n.1332-377T>G c.1324A>C (p.Asn442His) c.1426A>C (p.Asn476His) c.1366A>C (p.Asn456His) n.3607-377T>G n.4043-377T>G c.1249A>C (p.Asn417His) c.1267A>C (p.Asn423His) c.1024A>C (p.Asn342His) c.1057A>C (p.Asn353His) c.1075A>C (p.Asn359His) | |
2 | g.127428641A>G | CA348405719 | PROC | c.1081A>G (p.Asn361Asp) c.405A>G c.1183A>G (p.Asn395Asp) c.1264A>G (p.Asn422Asp) c.1246A>G (p.Asn416Asp) c.1144A>G (p.Asn382Asp) n.1332-377T>C c.1324A>G (p.Asn442Asp) c.1426A>G (p.Asn476Asp) c.1366A>G (p.Asn456Asp) n.3607-377T>C n.4043-377T>C c.1249A>G (p.Asn417Asp) c.1267A>G (p.Asn423Asp) c.1024A>G (p.Asn342Asp) c.1057A>G (p.Asn353Asp) c.1075A>G (p.Asn359Asp) | |
2 | g.127428641A>T | CA348405717 | PROC | c.1081A>T (p.Asn361Tyr) c.405A>T c.1183A>T (p.Asn395Tyr) c.1264A>T (p.Asn422Tyr) c.1246A>T (p.Asn416Tyr) c.1144A>T (p.Asn382Tyr) n.1332-377T>A c.1324A>T (p.Asn442Tyr) c.1426A>T (p.Asn476Tyr) c.1366A>T (p.Asn456Tyr) n.3607-377T>A n.4043-377T>A c.1249A>T (p.Asn417Tyr) c.1267A>T (p.Asn423Tyr) c.1024A>T (p.Asn342Tyr) c.1057A>T (p.Asn353Tyr) c.1075A>T (p.Asn359Tyr) | |
2 | g.127428642A>C | CA348405720 | PROC | c.1082A>C (p.Asn361Thr) c.406A>C c.1184A>C (p.Asn395Thr) c.1265A>C (p.Asn422Thr) c.1247A>C (p.Asn416Thr) c.1145A>C (p.Asn382Thr) n.1332-378T>G c.1325A>C (p.Asn442Thr) c.1427A>C (p.Asn476Thr) c.1367A>C (p.Asn456Thr) n.3607-378T>G n.4043-378T>G c.1250A>C (p.Asn417Thr) c.1268A>C (p.Asn423Thr) c.1025A>C (p.Asn342Thr) c.1058A>C (p.Asn353Thr) c.1076A>C (p.Asn359Thr) | |
2 | g.127428642A>G | CA348405722 | PROC | c.1082A>G (p.Asn361Ser) c.406A>G c.1184A>G (p.Asn395Ser) c.1265A>G (p.Asn422Ser) c.1247A>G (p.Asn416Ser) c.1145A>G (p.Asn382Ser) n.1332-378T>C c.1325A>G (p.Asn442Ser) c.1427A>G (p.Asn476Ser) c.1367A>G (p.Asn456Ser) n.3607-378T>C n.4043-378T>C c.1250A>G (p.Asn417Ser) c.1268A>G (p.Asn423Ser) c.1025A>G (p.Asn342Ser) c.1058A>G (p.Asn353Ser) c.1076A>G (p.Asn359Ser) | gnomAD v4 |
2 | g.127428642A>T | CA348405721 | PROC | c.1082A>T (p.Asn361Ile) c.406A>T c.1184A>T (p.Asn395Ile) c.1265A>T (p.Asn422Ile) c.1247A>T (p.Asn416Ile) c.1145A>T (p.Asn382Ile) n.1332-378T>A c.1325A>T (p.Asn442Ile) c.1427A>T (p.Asn476Ile) c.1367A>T (p.Asn456Ile) n.3607-378T>A n.4043-378T>A c.1250A>T (p.Asn417Ile) c.1268A>T (p.Asn423Ile) c.1025A>T (p.Asn342Ile) c.1058A>T (p.Asn353Ile) c.1076A>T (p.Asn359Ile) | |
2 | g.127428643C>A | CA348405723 | PROC | c.1083C>A (p.Asn361Lys) c.407C>A c.1185C>A (p.Asn395Lys) c.1266C>A (p.Asn422Lys) c.1248C>A (p.Asn416Lys) c.1146C>A (p.Asn382Lys) n.1332-379G>T c.1326C>A (p.Asn442Lys) c.1428C>A (p.Asn476Lys) c.1368C>A (p.Asn456Lys) n.3607-379G>T n.4043-379G>T c.1251C>A (p.Asn417Lys) c.1269C>A (p.Asn423Lys) c.1026C>A (p.Asn342Lys) c.1059C>A (p.Asn353Lys) c.1077C>A (p.Asn359Lys) | |
2 | g.127428643C>G | CA348405724 | PROC | c.1083C>G (p.Asn361Lys) c.407C>G c.1185C>G (p.Asn395Lys) c.1266C>G (p.Asn422Lys) c.1248C>G (p.Asn416Lys) c.1146C>G (p.Asn382Lys) n.1332-379G>C c.1326C>G (p.Asn442Lys) c.1428C>G (p.Asn476Lys) c.1368C>G (p.Asn456Lys) n.3607-379G>C n.4043-379G>C c.1251C>G (p.Asn417Lys) c.1269C>G (p.Asn423Lys) c.1026C>G (p.Asn342Lys) c.1059C>G (p.Asn353Lys) c.1077C>G (p.Asn359Lys) | |
2 | g.127428643C>T | CA428873025 | PROC | c.1083C>T (p.Asn361=) c.407C>T c.1185C>T (p.Asn395=) c.1266C>T (p.Asn422=) c.1248C>T (p.Asn416=) c.1146C>T (p.Asn382=) n.1332-379G>A c.1326C>T (p.Asn442=) c.1428C>T (p.Asn476=) c.1368C>T (p.Asn456=) n.3607-379G>A n.4043-379G>A c.1251C>T (p.Asn417=) c.1269C>T (p.Asn423=) c.1026C>T (p.Asn342=) c.1059C>T (p.Asn353=) c.1077C>T (p.Asn359=) | |
2 | g.127428644T>A | CA348405725 | PROC | c.1084T>A (p.Phe362Ile) c.408T>A c.1186T>A (p.Phe396Ile) c.1267T>A (p.Phe423Ile) c.1249T>A (p.Phe417Ile) c.1147T>A (p.Phe383Ile) n.1332-380A>T c.1327T>A (p.Phe443Ile) c.1429T>A (p.Phe477Ile) c.1369T>A (p.Phe457Ile) n.3607-380A>T n.4043-380A>T c.1252T>A (p.Phe418Ile) c.1270T>A (p.Phe424Ile) c.1027T>A (p.Phe343Ile) c.1060T>A (p.Phe354Ile) c.1078T>A (p.Phe360Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.127428644T>C | CA348405726 | PROC | c.1084T>C (p.Phe362Leu) c.408T>C c.1186T>C (p.Phe396Leu) c.1267T>C (p.Phe423Leu) c.1249T>C (p.Phe417Leu) c.1147T>C (p.Phe383Leu) n.1332-380A>G c.1327T>C (p.Phe443Leu) c.1429T>C (p.Phe477Leu) c.1369T>C (p.Phe457Leu) n.3607-380A>G n.4043-380A>G c.1252T>C (p.Phe418Leu) c.1270T>C (p.Phe424Leu) c.1027T>C (p.Phe343Leu) c.1060T>C (p.Phe354Leu) c.1078T>C (p.Phe360Leu) | |
2 | g.127428644T>G | CA348405727 | PROC | c.1084T>G (p.Phe362Val) c.408T>G c.1186T>G (p.Phe396Val) c.1267T>G (p.Phe423Val) c.1249T>G (p.Phe417Val) c.1147T>G (p.Phe383Val) n.1332-380A>C c.1327T>G (p.Phe443Val) c.1429T>G (p.Phe477Val) c.1369T>G (p.Phe457Val) n.3607-380A>C n.4043-380A>C c.1252T>G (p.Phe418Val) c.1270T>G (p.Phe424Val) c.1027T>G (p.Phe343Val) c.1060T>G (p.Phe354Val) c.1078T>G (p.Phe360Val) | |
2 | g.127428645T>A | CA348405728 | PROC | c.1085T>A (p.Phe362Tyr) c.409T>A c.1187T>A (p.Phe396Tyr) c.1268T>A (p.Phe423Tyr) c.1250T>A (p.Phe417Tyr) c.1148T>A (p.Phe383Tyr) n.1332-381A>T c.1328T>A (p.Phe443Tyr) c.1430T>A (p.Phe477Tyr) c.1370T>A (p.Phe457Tyr) n.3607-381A>T n.4043-381A>T c.1253T>A (p.Phe418Tyr) c.1271T>A (p.Phe424Tyr) c.1028T>A (p.Phe343Tyr) c.1061T>A (p.Phe354Tyr) c.1079T>A (p.Phe360Tyr) | |
2 | g.127428645T>C | CA348405729 | PROC | c.1085T>C (p.Phe362Ser) c.409T>C c.1187T>C (p.Phe396Ser) c.1268T>C (p.Phe423Ser) c.1250T>C (p.Phe417Ser) c.1148T>C (p.Phe383Ser) n.1332-381A>G c.1328T>C (p.Phe443Ser) c.1430T>C (p.Phe477Ser) c.1370T>C (p.Phe457Ser) n.3607-381A>G n.4043-381A>G c.1253T>C (p.Phe418Ser) c.1271T>C (p.Phe424Ser) c.1028T>C (p.Phe343Ser) c.1061T>C (p.Phe354Ser) c.1079T>C (p.Phe360Ser) | |
2 | g.127428645T>G | CA348405730 | PROC | c.1085T>G (p.Phe362Cys) c.409T>G c.1187T>G (p.Phe396Cys) c.1268T>G (p.Phe423Cys) c.1250T>G (p.Phe417Cys) c.1148T>G (p.Phe383Cys) n.1332-381A>C c.1328T>G (p.Phe443Cys) c.1430T>G (p.Phe477Cys) c.1370T>G (p.Phe457Cys) n.3607-381A>C n.4043-381A>C c.1253T>G (p.Phe418Cys) c.1271T>G (p.Phe424Cys) c.1028T>G (p.Phe343Cys) c.1061T>G (p.Phe354Cys) c.1079T>G (p.Phe360Cys) | |
2 | g.127428648_127428650del | CA2577090332 | PROC | c.1088_1090del (p.Ile363del) c.412_414del c.1190_1192del (p.Ile397del) c.1271_1273del (p.Ile424del) c.1253_1255del (p.Ile418del) c.1151_1153del (p.Ile384del) n.1332-383_1332-381del c.1331_1333del (p.Ile444del) c.1433_1435del (p.Ile478del) c.1373_1375del (p.Ile458del) n.3607-383_3607-381del n.4043-383_4043-381del c.1256_1258del (p.Ile419del) c.1274_1276del (p.Ile425del) c.1031_1033del (p.Ile344del) c.1064_1066del (p.Ile355del) c.1082_1084del (p.Ile361del) | |
2 | g.127428646C>A | CA348405731 | PROC | c.1086C>A (p.Phe362Leu) c.410C>A c.1188C>A (p.Phe396Leu) c.1269C>A (p.Phe423Leu) c.1251C>A (p.Phe417Leu) c.1149C>A (p.Phe383Leu) n.1332-382G>T c.1329C>A (p.Phe443Leu) c.1431C>A (p.Phe477Leu) c.1371C>A (p.Phe457Leu) n.3607-382G>T n.4043-382G>T c.1254C>A (p.Phe418Leu) c.1272C>A (p.Phe424Leu) c.1029C>A (p.Phe343Leu) c.1062C>A (p.Phe354Leu) c.1080C>A (p.Phe360Leu) | |
2 | g.127428646C= | CA1286884565 | PROC | c.1086C= (p.Phe362=) c.410C= c.1188C= (p.Phe396=) c.1269C= (p.Phe423=) c.1251C= (p.Phe417=) c.1149C= (p.Phe383=) n.1332-382G= c.1329C= (p.Phe443=) c.1431C= (p.Phe477=) c.1371C= (p.Phe457=) n.3607-382G= n.4043-382G= c.1254C= (p.Phe418=) c.1272C= (p.Phe424=) c.1029C= (p.Phe343=) c.1062C= (p.Phe354=) c.1080C= (p.Phe360=) | |
2 | g.127428646C>G | CA348405732 | PROC | c.1086C>G (p.Phe362Leu) c.410C>G c.1188C>G (p.Phe396Leu) c.1269C>G (p.Phe423Leu) c.1251C>G (p.Phe417Leu) c.1149C>G (p.Phe383Leu) n.1332-382G>C c.1329C>G (p.Phe443Leu) c.1431C>G (p.Phe477Leu) c.1371C>G (p.Phe457Leu) n.3607-382G>C n.4043-382G>C c.1254C>G (p.Phe418Leu) c.1272C>G (p.Phe424Leu) c.1029C>G (p.Phe343Leu) c.1062C>G (p.Phe354Leu) c.1080C>G (p.Phe360Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428646C>T | CA428873029 | PROC | c.1086C>T (p.Phe362=) c.410C>T c.1188C>T (p.Phe396=) c.1269C>T (p.Phe423=) c.1251C>T (p.Phe417=) c.1149C>T (p.Phe383=) n.1332-382G>A c.1329C>T (p.Phe443=) c.1431C>T (p.Phe477=) c.1371C>T (p.Phe457=) n.3607-382G>A n.4043-382G>A c.1254C>T (p.Phe418=) c.1272C>T (p.Phe424=) c.1029C>T (p.Phe343=) c.1062C>T (p.Phe354=) c.1080C>T (p.Phe360=) | |
2 | g.127428647A>C | CA348405735 | PROC | c.1087A>C (p.Ile363Leu) c.411A>C c.1189A>C (p.Ile397Leu) c.1270A>C (p.Ile424Leu) c.1252A>C (p.Ile418Leu) c.1150A>C (p.Ile384Leu) n.1332-383T>G c.1330A>C (p.Ile444Leu) c.1432A>C (p.Ile478Leu) c.1372A>C (p.Ile458Leu) n.3607-383T>G n.4043-383T>G c.1255A>C (p.Ile419Leu) c.1273A>C (p.Ile425Leu) c.1030A>C (p.Ile344Leu) c.1063A>C (p.Ile355Leu) c.1081A>C (p.Ile361Leu) | |
2 | g.127428647A>G | CA348405737 | PROC | c.1087A>G (p.Ile363Val) c.411A>G c.1189A>G (p.Ile397Val) c.1270A>G (p.Ile424Val) c.1252A>G (p.Ile418Val) c.1150A>G (p.Ile384Val) n.1332-383T>C c.1330A>G (p.Ile444Val) c.1432A>G (p.Ile478Val) c.1372A>G (p.Ile458Val) n.3607-383T>C n.4043-383T>C c.1255A>G (p.Ile419Val) c.1273A>G (p.Ile425Val) c.1030A>G (p.Ile344Val) c.1063A>G (p.Ile355Val) c.1081A>G (p.Ile361Val) | |
2 | g.127428647A>T | CA348405739 | PROC | c.1087A>T (p.Ile363Phe) c.411A>T c.1189A>T (p.Ile397Phe) c.1270A>T (p.Ile424Phe) c.1252A>T (p.Ile418Phe) c.1150A>T (p.Ile384Phe) n.1332-383T>A c.1330A>T (p.Ile444Phe) c.1432A>T (p.Ile478Phe) c.1372A>T (p.Ile458Phe) n.3607-383T>A n.4043-383T>A c.1255A>T (p.Ile419Phe) c.1273A>T (p.Ile425Phe) c.1030A>T (p.Ile344Phe) c.1063A>T (p.Ile355Phe) c.1081A>T (p.Ile361Phe) | gnomAD v4 |
2 | g.127428648T>A | CA348405744 | PROC | c.1088T>A (p.Ile363Asn) c.412T>A c.1190T>A (p.Ile397Asn) c.1271T>A (p.Ile424Asn) c.1253T>A (p.Ile418Asn) c.1151T>A (p.Ile384Asn) n.1332-384A>T c.1331T>A (p.Ile444Asn) c.1433T>A (p.Ile478Asn) c.1373T>A (p.Ile458Asn) n.3607-384A>T n.4043-384A>T c.1256T>A (p.Ile419Asn) c.1274T>A (p.Ile425Asn) c.1031T>A (p.Ile344Asn) c.1064T>A (p.Ile355Asn) c.1082T>A (p.Ile361Asn) | |
2 | g.127428648T>C | CA348405743 | PROC | c.1088T>C (p.Ile363Thr) c.412T>C c.1190T>C (p.Ile397Thr) c.1271T>C (p.Ile424Thr) c.1253T>C (p.Ile418Thr) c.1151T>C (p.Ile384Thr) n.1332-384A>G c.1331T>C (p.Ile444Thr) c.1433T>C (p.Ile478Thr) c.1373T>C (p.Ile458Thr) n.3607-384A>G n.4043-384A>G c.1256T>C (p.Ile419Thr) c.1274T>C (p.Ile425Thr) c.1031T>C (p.Ile344Thr) c.1064T>C (p.Ile355Thr) c.1082T>C (p.Ile361Thr) | |
2 | g.127428648T>G | CA348405741 | PROC | c.1088T>G (p.Ile363Ser) c.412T>G c.1190T>G (p.Ile397Ser) c.1271T>G (p.Ile424Ser) c.1253T>G (p.Ile418Ser) c.1151T>G (p.Ile384Ser) n.1332-384A>C c.1331T>G (p.Ile444Ser) c.1433T>G (p.Ile478Ser) c.1373T>G (p.Ile458Ser) n.3607-384A>C n.4043-384A>C c.1256T>G (p.Ile419Ser) c.1274T>G (p.Ile425Ser) c.1031T>G (p.Ile344Ser) c.1064T>G (p.Ile355Ser) c.1082T>G (p.Ile361Ser) | |
2 | g.127428649C>A | CA428873031 | PROC | c.1089C>A (p.Ile363=) c.413C>A c.1191C>A (p.Ile397=) c.1272C>A (p.Ile424=) c.1254C>A (p.Ile418=) c.1152C>A (p.Ile384=) n.1332-385G>T c.1332C>A (p.Ile444=) c.1434C>A (p.Ile478=) c.1374C>A (p.Ile458=) n.3607-385G>T n.4043-385G>T c.1257C>A (p.Ile419=) c.1275C>A (p.Ile425=) c.1032C>A (p.Ile344=) c.1065C>A (p.Ile355=) c.1083C>A (p.Ile361=) | |
2 | g.127428649C>G | CA348405746 | PROC | c.1089C>G (p.Ile363Met) c.413C>G c.1191C>G (p.Ile397Met) c.1272C>G (p.Ile424Met) c.1254C>G (p.Ile418Met) c.1152C>G (p.Ile384Met) n.1332-385G>C c.1332C>G (p.Ile444Met) c.1434C>G (p.Ile478Met) c.1374C>G (p.Ile458Met) n.3607-385G>C n.4043-385G>C c.1257C>G (p.Ile419Met) c.1275C>G (p.Ile425Met) c.1032C>G (p.Ile344Met) c.1065C>G (p.Ile355Met) c.1083C>G (p.Ile361Met) | |
2 | g.127428649C>T | CA428873032 | PROC | c.1089C>T (p.Ile363=) c.413C>T c.1191C>T (p.Ile397=) c.1272C>T (p.Ile424=) c.1254C>T (p.Ile418=) c.1152C>T (p.Ile384=) n.1332-385G>A c.1332C>T (p.Ile444=) c.1434C>T (p.Ile478=) c.1374C>T (p.Ile458=) n.3607-385G>A n.4043-385G>A c.1257C>T (p.Ile419=) c.1275C>T (p.Ile425=) c.1032C>T (p.Ile344=) c.1065C>T (p.Ile355=) c.1083C>T (p.Ile361=) | |
2 | g.127428649_127428651del | CA2586969917 | PROC | c.1089_1091del (p.Ile363_Lys364delinsMet) c.413_415del c.1191_1193del (p.Ile397_Lys398delinsMet) c.1272_1274del (p.Ile424_Lys425delinsMet) c.1254_1256del (p.Ile418_Lys419delinsMet) c.1152_1154del (p.Ile384_Lys385delinsMet) n.1332-387_1332-385del c.1332_1334del (p.Ile444_Lys445delinsMet) c.1434_1436del (p.Ile478_Lys479delinsMet) c.1374_1376del (p.Ile458_Lys459delinsMet) n.3607-387_3607-385del n.4043-387_4043-385del c.1257_1259del (p.Ile419_Lys420delinsMet) c.1275_1277del (p.Ile425_Lys426delinsMet) c.1032_1034del (p.Ile344_Lys345delinsMet) c.1065_1067del (p.Ile355_Lys356delinsMet) c.1083_1085del (p.Ile361_Lys362delinsMet) | |
2 | g.127428650A>C | CA348405749 | PROC | c.1090A>C (p.Lys364Gln) c.414A>C c.1192A>C (p.Lys398Gln) c.1273A>C (p.Lys425Gln) c.1255A>C (p.Lys419Gln) c.1153A>C (p.Lys385Gln) n.1332-386T>G c.1333A>C (p.Lys445Gln) c.1435A>C (p.Lys479Gln) c.1375A>C (p.Lys459Gln) n.3607-386T>G n.4043-386T>G c.1258A>C (p.Lys420Gln) c.1276A>C (p.Lys426Gln) c.1033A>C (p.Lys345Gln) c.1066A>C (p.Lys356Gln) c.1084A>C (p.Lys362Gln) | |
2 | g.127428650A>G | CA348405750 | PROC | c.1090A>G (p.Lys364Glu) c.414A>G c.1192A>G (p.Lys398Glu) c.1273A>G (p.Lys425Glu) c.1255A>G (p.Lys419Glu) c.1153A>G (p.Lys385Glu) n.1332-386T>C c.1333A>G (p.Lys445Glu) c.1435A>G (p.Lys479Glu) c.1375A>G (p.Lys459Glu) n.3607-386T>C n.4043-386T>C c.1258A>G (p.Lys420Glu) c.1276A>G (p.Lys426Glu) c.1033A>G (p.Lys345Glu) c.1066A>G (p.Lys356Glu) c.1084A>G (p.Lys362Glu) | |
2 | g.127428650A>T | CA348405751 | PROC | c.1090A>T (p.Lys364Ter) c.414A>T c.1192A>T (p.Lys398Ter) c.1273A>T (p.Lys425Ter) c.1255A>T (p.Lys419Ter) c.1153A>T (p.Lys385Ter) n.1332-386T>A c.1333A>T (p.Lys445Ter) c.1435A>T (p.Lys479Ter) c.1375A>T (p.Lys459Ter) n.3607-386T>A n.4043-386T>A c.1258A>T (p.Lys420Ter) c.1276A>T (p.Lys426Ter) c.1033A>T (p.Lys345Ter) c.1066A>T (p.Lys356Ter) c.1084A>T (p.Lys362Ter) | |
2 | g.127428651A= | CA1286884566 | PROC | c.1091A= (p.Lys364=) c.415A= c.1193A= (p.Lys398=) c.1274A= (p.Lys425=) c.1256A= (p.Lys419=) c.1154A= (p.Lys385=) n.1332-387T= c.1334A= (p.Lys445=) c.1436A= (p.Lys479=) c.1376A= (p.Lys459=) n.3607-387T= n.4043-387T= c.1259A= (p.Lys420=) c.1277A= (p.Lys426=) c.1034A= (p.Lys345=) c.1067A= (p.Lys356=) c.1085A= (p.Lys362=) | |
2 | g.127428651A>C | CA348405754 | PROC | c.1091A>C (p.Lys364Thr) c.415A>C c.1193A>C (p.Lys398Thr) c.1274A>C (p.Lys425Thr) c.1256A>C (p.Lys419Thr) c.1154A>C (p.Lys385Thr) n.1332-387T>G c.1334A>C (p.Lys445Thr) c.1436A>C (p.Lys479Thr) c.1376A>C (p.Lys459Thr) n.3607-387T>G n.4043-387T>G c.1259A>C (p.Lys420Thr) c.1277A>C (p.Lys426Thr) c.1034A>C (p.Lys345Thr) c.1067A>C (p.Lys356Thr) c.1085A>C (p.Lys362Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428651A>G | CA348405755 | PROC | c.1091A>G (p.Lys364Arg) c.415A>G c.1193A>G (p.Lys398Arg) c.1274A>G (p.Lys425Arg) c.1256A>G (p.Lys419Arg) c.1154A>G (p.Lys385Arg) n.1332-387T>C c.1334A>G (p.Lys445Arg) c.1436A>G (p.Lys479Arg) c.1376A>G (p.Lys459Arg) n.3607-387T>C n.4043-387T>C c.1259A>G (p.Lys420Arg) c.1277A>G (p.Lys426Arg) c.1034A>G (p.Lys345Arg) c.1067A>G (p.Lys356Arg) c.1085A>G (p.Lys362Arg) | gnomAD v4 |
2 | g.127428651A>T | CA348405756 | PROC | c.1091A>T (p.Lys364Met) c.415A>T c.1193A>T (p.Lys398Met) c.1274A>T (p.Lys425Met) c.1256A>T (p.Lys419Met) c.1154A>T (p.Lys385Met) n.1332-387T>A c.1334A>T (p.Lys445Met) c.1436A>T (p.Lys479Met) c.1376A>T (p.Lys459Met) n.3607-387T>A n.4043-387T>A c.1259A>T (p.Lys420Met) c.1277A>T (p.Lys426Met) c.1034A>T (p.Lys345Met) c.1067A>T (p.Lys356Met) c.1085A>T (p.Lys362Met) | |
2 | g.127428652G>A | CA428873036 | PROC | c.1092G>A (p.Lys364=) c.416G>A c.1194G>A (p.Lys398=) c.1275G>A (p.Lys425=) c.1257G>A (p.Lys419=) c.1155G>A (p.Lys385=) n.1332-388C>T c.1335G>A (p.Lys445=) c.1437G>A (p.Lys479=) c.1377G>A (p.Lys459=) n.3607-388C>T n.4043-388C>T c.1260G>A (p.Lys420=) c.1278G>A (p.Lys426=) c.1035G>A (p.Lys345=) c.1068G>A (p.Lys356=) c.1086G>A (p.Lys362=) | |
2 | g.127428652G>C | CA348405758 | PROC | c.1092G>C (p.Lys364Asn) c.416G>C c.1194G>C (p.Lys398Asn) c.1275G>C (p.Lys425Asn) c.1257G>C (p.Lys419Asn) c.1155G>C (p.Lys385Asn) n.1332-388C>G c.1335G>C (p.Lys445Asn) c.1437G>C (p.Lys479Asn) c.1377G>C (p.Lys459Asn) n.3607-388C>G n.4043-388C>G c.1260G>C (p.Lys420Asn) c.1278G>C (p.Lys426Asn) c.1035G>C (p.Lys345Asn) c.1068G>C (p.Lys356Asn) c.1086G>C (p.Lys362Asn) | |
2 | g.127428652G>T | CA348405760 | PROC | c.1092G>T (p.Lys364Asn) c.416G>T c.1194G>T (p.Lys398Asn) c.1275G>T (p.Lys425Asn) c.1257G>T (p.Lys419Asn) c.1155G>T (p.Lys385Asn) n.1332-388C>A c.1335G>T (p.Lys445Asn) c.1437G>T (p.Lys479Asn) c.1377G>T (p.Lys459Asn) n.3607-388C>A n.4043-388C>A c.1260G>T (p.Lys420Asn) c.1278G>T (p.Lys426Asn) c.1035G>T (p.Lys345Asn) c.1068G>T (p.Lys356Asn) c.1086G>T (p.Lys362Asn) | |
2 | g.127428653A>C | CA348405762 | PROC | c.1093A>C (p.Ile365Leu) c.417A>C c.1195A>C (p.Ile399Leu) c.1276A>C (p.Ile426Leu) c.1258A>C (p.Ile420Leu) c.1156A>C (p.Ile386Leu) n.1332-389T>G c.1336A>C (p.Ile446Leu) c.1438A>C (p.Ile480Leu) c.1378A>C (p.Ile460Leu) n.3607-389T>G n.4043-389T>G c.1261A>C (p.Ile421Leu) c.1279A>C (p.Ile427Leu) c.1036A>C (p.Ile346Leu) c.1069A>C (p.Ile357Leu) c.1087A>C (p.Ile363Leu) | |
2 | g.127428653A>G | CA348405763 | PROC | c.1093A>G (p.Ile365Val) c.417A>G c.1195A>G (p.Ile399Val) c.1276A>G (p.Ile426Val) c.1258A>G (p.Ile420Val) c.1156A>G (p.Ile386Val) n.1332-389T>C c.1336A>G (p.Ile446Val) c.1438A>G (p.Ile480Val) c.1378A>G (p.Ile460Val) n.3607-389T>C n.4043-389T>C c.1261A>G (p.Ile421Val) c.1279A>G (p.Ile427Val) c.1036A>G (p.Ile346Val) c.1069A>G (p.Ile357Val) c.1087A>G (p.Ile363Val) | |
2 | g.127428653A>T | CA348405765 | PROC | c.1093A>T (p.Ile365Phe) c.417A>T c.1195A>T (p.Ile399Phe) c.1276A>T (p.Ile426Phe) c.1258A>T (p.Ile420Phe) c.1156A>T (p.Ile386Phe) n.1332-389T>A c.1336A>T (p.Ile446Phe) c.1438A>T (p.Ile480Phe) c.1378A>T (p.Ile460Phe) n.3607-389T>A n.4043-389T>A c.1261A>T (p.Ile421Phe) c.1279A>T (p.Ile427Phe) c.1036A>T (p.Ile346Phe) c.1069A>T (p.Ile357Phe) c.1087A>T (p.Ile363Phe) | |
2 | g.127428654T>A | CA348405771 | PROC | c.1094T>A (p.Ile365Asn) c.418T>A c.1196T>A (p.Ile399Asn) c.1277T>A (p.Ile426Asn) c.1259T>A (p.Ile420Asn) c.1157T>A (p.Ile386Asn) n.1332-390A>T c.1337T>A (p.Ile446Asn) c.1439T>A (p.Ile480Asn) c.1379T>A (p.Ile460Asn) n.3607-390A>T n.4043-390A>T c.1262T>A (p.Ile421Asn) c.1280T>A (p.Ile427Asn) c.1037T>A (p.Ile346Asn) c.1070T>A (p.Ile357Asn) c.1088T>A (p.Ile363Asn) | |
2 | g.127428654T>C | CA348405768 | PROC | c.1094T>C (p.Ile365Thr) c.418T>C c.1196T>C (p.Ile399Thr) c.1277T>C (p.Ile426Thr) c.1259T>C (p.Ile420Thr) c.1157T>C (p.Ile386Thr) n.1332-390A>G c.1337T>C (p.Ile446Thr) c.1439T>C (p.Ile480Thr) c.1379T>C (p.Ile460Thr) n.3607-390A>G n.4043-390A>G c.1262T>C (p.Ile421Thr) c.1280T>C (p.Ile427Thr) c.1037T>C (p.Ile346Thr) c.1070T>C (p.Ile357Thr) c.1088T>C (p.Ile363Thr) | |
2 | g.127428654T>G | CA348405767 | PROC | c.1094T>G (p.Ile365Ser) c.418T>G c.1196T>G (p.Ile399Ser) c.1277T>G (p.Ile426Ser) c.1259T>G (p.Ile420Ser) c.1157T>G (p.Ile386Ser) n.1332-390A>C c.1337T>G (p.Ile446Ser) c.1439T>G (p.Ile480Ser) c.1379T>G (p.Ile460Ser) n.3607-390A>C n.4043-390A>C c.1262T>G (p.Ile421Ser) c.1280T>G (p.Ile427Ser) c.1037T>G (p.Ile346Ser) c.1070T>G (p.Ile357Ser) c.1088T>G (p.Ile363Ser) | |
2 | g.127428655T>A | CA428873043 | PROC | c.1095T>A (p.Ile365=) c.419T>A c.1197T>A (p.Ile399=) c.1278T>A (p.Ile426=) c.1260T>A (p.Ile420=) c.1158T>A (p.Ile386=) n.1332-391A>T c.1338T>A (p.Ile446=) c.1440T>A (p.Ile480=) c.1380T>A (p.Ile460=) n.3607-391A>T n.4043-391A>T c.1263T>A (p.Ile421=) c.1281T>A (p.Ile427=) c.1038T>A (p.Ile346=) c.1071T>A (p.Ile357=) c.1089T>A (p.Ile363=) | |
2 | g.127428655T>C | CA428873045 | PROC | c.1095T>C (p.Ile365=) c.419T>C c.1197T>C (p.Ile399=) c.1278T>C (p.Ile426=) c.1260T>C (p.Ile420=) c.1158T>C (p.Ile386=) n.1332-391A>G c.1338T>C (p.Ile446=) c.1440T>C (p.Ile480=) c.1380T>C (p.Ile460=) n.3607-391A>G n.4043-391A>G c.1263T>C (p.Ile421=) c.1281T>C (p.Ile427=) c.1038T>C (p.Ile346=) c.1071T>C (p.Ile357=) c.1089T>C (p.Ile363=) | |
2 | g.127428655T>G | CA348405773 | PROC | c.1095T>G (p.Ile365Met) c.419T>G c.1197T>G (p.Ile399Met) c.1278T>G (p.Ile426Met) c.1260T>G (p.Ile420Met) c.1158T>G (p.Ile386Met) n.1332-391A>C c.1338T>G (p.Ile446Met) c.1440T>G (p.Ile480Met) c.1380T>G (p.Ile460Met) n.3607-391A>C n.4043-391A>C c.1263T>G (p.Ile421Met) c.1281T>G (p.Ile427Met) c.1038T>G (p.Ile346Met) c.1071T>G (p.Ile357Met) c.1089T>G (p.Ile363Met) | |
2 | g.127428656C>A | CA348405775 | PROC | c.1096C>A (p.Pro366Thr) c.420C>A c.1198C>A (p.Pro400Thr) c.1279C>A (p.Pro427Thr) c.1261C>A (p.Pro421Thr) c.1159C>A (p.Pro387Thr) n.1332-392G>T c.1339C>A (p.Pro447Thr) c.1441C>A (p.Pro481Thr) c.1381C>A (p.Pro461Thr) n.3607-392G>T n.4043-392G>T c.1264C>A (p.Pro422Thr) c.1282C>A (p.Pro428Thr) c.1039C>A (p.Pro347Thr) c.1072C>A (p.Pro358Thr) c.1090C>A (p.Pro364Thr) | dbSNP |
2 | g.127428656C= | CA1286884567 | PROC | c.1096C= (p.Pro366=) c.420C= c.1198C= (p.Pro400=) c.1279C= (p.Pro427=) c.1261C= (p.Pro421=) c.1159C= (p.Pro387=) n.1332-392G= c.1339C= (p.Pro447=) c.1441C= (p.Pro481=) c.1381C= (p.Pro461=) n.3607-392G= n.4043-392G= c.1264C= (p.Pro422=) c.1282C= (p.Pro428=) c.1039C= (p.Pro347=) c.1072C= (p.Pro358=) c.1090C= (p.Pro364=) | |
2 | g.127428656C>G | CA348405777 | PROC | c.1096C>G (p.Pro366Ala) c.420C>G c.1198C>G (p.Pro400Ala) c.1279C>G (p.Pro427Ala) c.1261C>G (p.Pro421Ala) c.1159C>G (p.Pro387Ala) n.1332-392G>C c.1339C>G (p.Pro447Ala) c.1441C>G (p.Pro481Ala) c.1381C>G (p.Pro461Ala) n.3607-392G>C n.4043-392G>C c.1264C>G (p.Pro422Ala) c.1282C>G (p.Pro428Ala) c.1039C>G (p.Pro347Ala) c.1072C>G (p.Pro358Ala) c.1090C>G (p.Pro364Ala) | |
2 | g.127428656C>T | CA348405778 | PROC | c.1096C>T (p.Pro366Ser) c.420C>T c.1198C>T (p.Pro400Ser) c.1279C>T (p.Pro427Ser) c.1261C>T (p.Pro421Ser) c.1159C>T (p.Pro387Ser) n.1332-392G>A c.1339C>T (p.Pro447Ser) c.1441C>T (p.Pro481Ser) c.1381C>T (p.Pro461Ser) n.3607-392G>A n.4043-392G>A c.1264C>T (p.Pro422Ser) c.1282C>T (p.Pro428Ser) c.1039C>T (p.Pro347Ser) c.1072C>T (p.Pro358Ser) c.1090C>T (p.Pro364Ser) | gnomAD v4 |
2 | g.127428657C>A | CA348405781 | PROC | c.1097C>A (p.Pro366His) c.421C>A c.1199C>A (p.Pro400His) c.1280C>A (p.Pro427His) c.1262C>A (p.Pro421His) c.1160C>A (p.Pro387His) n.1332-393G>T c.1340C>A (p.Pro447His) c.1442C>A (p.Pro481His) c.1382C>A (p.Pro461His) n.3607-393G>T n.4043-393G>T c.1265C>A (p.Pro422His) c.1283C>A (p.Pro428His) c.1040C>A (p.Pro347His) c.1073C>A (p.Pro358His) c.1091C>A (p.Pro364His) | |
2 | g.127428657C= | CA1286884568 | PROC | c.1097C= (p.Pro366=) c.421C= c.1199C= (p.Pro400=) c.1280C= (p.Pro427=) c.1262C= (p.Pro421=) c.1160C= (p.Pro387=) n.1332-393G= c.1340C= (p.Pro447=) c.1442C= (p.Pro481=) c.1382C= (p.Pro461=) n.3607-393G= n.4043-393G= c.1265C= (p.Pro422=) c.1283C= (p.Pro428=) c.1040C= (p.Pro347=) c.1073C= (p.Pro358=) c.1091C= (p.Pro364=) | |
2 | g.127428657C>G | CA348405783 | PROC | c.1097C>G (p.Pro366Arg) c.421C>G c.1199C>G (p.Pro400Arg) c.1280C>G (p.Pro427Arg) c.1262C>G (p.Pro421Arg) c.1160C>G (p.Pro387Arg) n.1332-393G>C c.1340C>G (p.Pro447Arg) c.1442C>G (p.Pro481Arg) c.1382C>G (p.Pro461Arg) n.3607-393G>C n.4043-393G>C c.1265C>G (p.Pro422Arg) c.1283C>G (p.Pro428Arg) c.1040C>G (p.Pro347Arg) c.1073C>G (p.Pro358Arg) c.1091C>G (p.Pro364Arg) | |
2 | g.127428657C>T | CA348405784 | PROC | c.1097C>T (p.Pro366Leu) c.421C>T c.1199C>T (p.Pro400Leu) c.1280C>T (p.Pro427Leu) c.1262C>T (p.Pro421Leu) c.1160C>T (p.Pro387Leu) n.1332-393G>A c.1340C>T (p.Pro447Leu) c.1442C>T (p.Pro481Leu) c.1382C>T (p.Pro461Leu) n.3607-393G>A n.4043-393G>A c.1265C>T (p.Pro422Leu) c.1283C>T (p.Pro428Leu) c.1040C>T (p.Pro347Leu) c.1073C>T (p.Pro358Leu) c.1091C>T (p.Pro364Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.127428658C>A | CA428873052 | PROC | c.1098C>A (p.Pro366=) c.422C>A c.1200C>A (p.Pro400=) c.1281C>A (p.Pro427=) c.1263C>A (p.Pro421=) c.1161C>A (p.Pro387=) n.1332-394G>T c.1341C>A (p.Pro447=) c.1443C>A (p.Pro481=) c.1383C>A (p.Pro461=) n.3607-394G>T n.4043-394G>T c.1266C>A (p.Pro422=) c.1284C>A (p.Pro428=) c.1041C>A (p.Pro347=) c.1074C>A (p.Pro358=) c.1092C>A (p.Pro364=) | |
2 | g.127428658C= | CA1286884569 | PROC | c.1098C= (p.Pro366=) c.422C= c.1200C= (p.Pro400=) c.1281C= (p.Pro427=) c.1263C= (p.Pro421=) c.1161C= (p.Pro387=) n.1332-394G= c.1341C= (p.Pro447=) c.1443C= (p.Pro481=) c.1383C= (p.Pro461=) n.3607-394G= n.4043-394G= c.1266C= (p.Pro422=) c.1284C= (p.Pro428=) c.1041C= (p.Pro347=) c.1074C= (p.Pro358=) c.1092C= (p.Pro364=) | |
2 | g.127428658C>G | CA428873056 | PROC | c.1098C>G (p.Pro366=) c.422C>G c.1200C>G (p.Pro400=) c.1281C>G (p.Pro427=) c.1263C>G (p.Pro421=) c.1161C>G (p.Pro387=) n.1332-394G>C c.1341C>G (p.Pro447=) c.1443C>G (p.Pro481=) c.1383C>G (p.Pro461=) n.3607-394G>C n.4043-394G>C c.1266C>G (p.Pro422=) c.1284C>G (p.Pro428=) c.1041C>G (p.Pro347=) c.1074C>G (p.Pro358=) c.1092C>G (p.Pro364=) | |
2 | g.127428658C>T | CA1859521 | PROC | c.1098C>T (p.Pro366=) c.422C>T c.1200C>T (p.Pro400=) c.1281C>T (p.Pro427=) c.1263C>T (p.Pro421=) c.1161C>T (p.Pro387=) n.1332-394G>A c.1341C>T (p.Pro447=) c.1443C>T (p.Pro481=) c.1383C>T (p.Pro461=) n.3607-394G>A n.4043-394G>A c.1266C>T (p.Pro422=) c.1284C>T (p.Pro428=) c.1041C>T (p.Pro347=) c.1074C>T (p.Pro358=) c.1092C>T (p.Pro364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428659G>A | CA1859522 | PROC | c.1099G>A (p.Val367Met) c.423G>A c.1201G>A (p.Val401Met) c.1282G>A (p.Val428Met) c.1264G>A (p.Val422Met) c.1162G>A (p.Val388Met) n.1332-395C>T c.1342G>A (p.Val448Met) c.1444G>A (p.Val482Met) c.1384G>A (p.Val462Met) n.3607-395C>T n.4043-395C>T c.1267G>A (p.Val423Met) c.1285G>A (p.Val429Met) c.1042G>A (p.Val348Met) c.1075G>A (p.Val359Met) c.1093G>A (p.Val365Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428659G>C | CA348405789 | PROC | c.1099G>C (p.Val367Leu) c.423G>C c.1201G>C (p.Val401Leu) c.1282G>C (p.Val428Leu) c.1264G>C (p.Val422Leu) c.1162G>C (p.Val388Leu) n.1332-395C>G c.1342G>C (p.Val448Leu) c.1444G>C (p.Val482Leu) c.1384G>C (p.Val462Leu) n.3607-395C>G n.4043-395C>G c.1267G>C (p.Val423Leu) c.1285G>C (p.Val429Leu) c.1042G>C (p.Val348Leu) c.1075G>C (p.Val359Leu) c.1093G>C (p.Val365Leu) | |
2 | g.127428659G= | CA1286884570 | PROC | c.1099G= (p.Val367=) c.423G= c.1201G= (p.Val401=) c.1282G= (p.Val428=) c.1264G= (p.Val422=) c.1162G= (p.Val388=) n.1332-395C= c.1342G= (p.Val448=) c.1444G= (p.Val482=) c.1384G= (p.Val462=) n.3607-395C= n.4043-395C= c.1267G= (p.Val423=) c.1285G= (p.Val429=) c.1042G= (p.Val348=) c.1075G= (p.Val359=) c.1093G= (p.Val365=) | |
2 | g.127428659G>T | CA348405791 | PROC | c.1099G>T (p.Val367Leu) c.423G>T c.1201G>T (p.Val401Leu) c.1282G>T (p.Val428Leu) c.1264G>T (p.Val422Leu) c.1162G>T (p.Val388Leu) n.1332-395C>A c.1342G>T (p.Val448Leu) c.1444G>T (p.Val482Leu) c.1384G>T (p.Val462Leu) n.3607-395C>A n.4043-395C>A c.1267G>T (p.Val423Leu) c.1285G>T (p.Val429Leu) c.1042G>T (p.Val348Leu) c.1075G>T (p.Val359Leu) c.1093G>T (p.Val365Leu) | |
2 | g.127428660T>A | CA348405796 | PROC | c.1100T>A (p.Val367Glu) c.424T>A c.1202T>A (p.Val401Glu) c.1283T>A (p.Val428Glu) c.1265T>A (p.Val422Glu) c.1163T>A (p.Val388Glu) n.1332-396A>T c.1343T>A (p.Val448Glu) c.1445T>A (p.Val482Glu) c.1385T>A (p.Val462Glu) n.3607-396A>T n.4043-396A>T c.1268T>A (p.Val423Glu) c.1286T>A (p.Val429Glu) c.1043T>A (p.Val348Glu) c.1076T>A (p.Val359Glu) c.1094T>A (p.Val365Glu) | |
2 | g.127428660T>C | CA1859523 | PROC | c.1100T>C (p.Val367Ala) c.424T>C c.1202T>C (p.Val401Ala) c.1283T>C (p.Val428Ala) c.1265T>C (p.Val422Ala) c.1163T>C (p.Val388Ala) n.1332-396A>G c.1343T>C (p.Val448Ala) c.1445T>C (p.Val482Ala) c.1385T>C (p.Val462Ala) n.3607-396A>G n.4043-396A>G c.1268T>C (p.Val423Ala) c.1286T>C (p.Val429Ala) c.1043T>C (p.Val348Ala) c.1076T>C (p.Val359Ala) c.1094T>C (p.Val365Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428660T>G | CA348405793 | PROC | c.1100T>G (p.Val367Gly) c.424T>G c.1202T>G (p.Val401Gly) c.1283T>G (p.Val428Gly) c.1265T>G (p.Val422Gly) c.1163T>G (p.Val388Gly) n.1332-396A>C c.1343T>G (p.Val448Gly) c.1445T>G (p.Val482Gly) c.1385T>G (p.Val462Gly) n.3607-396A>C n.4043-396A>C c.1268T>G (p.Val423Gly) c.1286T>G (p.Val429Gly) c.1043T>G (p.Val348Gly) c.1076T>G (p.Val359Gly) c.1094T>G (p.Val365Gly) | |
2 | g.127428660T= | CA1286884571 | PROC | c.1100T= (p.Val367=) c.424T= c.1202T= (p.Val401=) c.1283T= (p.Val428=) c.1265T= (p.Val422=) c.1163T= (p.Val388=) n.1332-396A= c.1343T= (p.Val448=) c.1445T= (p.Val482=) c.1385T= (p.Val462=) n.3607-396A= n.4043-396A= c.1268T= (p.Val423=) c.1286T= (p.Val429=) c.1043T= (p.Val348=) c.1076T= (p.Val359=) c.1094T= (p.Val365=) | |
2 | g.127428661G>A | CA428873068 | PROC | c.1101G>A (p.Val367=) c.425G>A c.1203G>A (p.Val401=) c.1284G>A (p.Val428=) c.1266G>A (p.Val422=) c.1164G>A (p.Val388=) n.1332-397C>T c.1344G>A (p.Val448=) c.1446G>A (p.Val482=) c.1386G>A (p.Val462=) n.3607-397C>T n.4043-397C>T c.1269G>A (p.Val423=) c.1287G>A (p.Val429=) c.1044G>A (p.Val348=) c.1077G>A (p.Val359=) c.1095G>A (p.Val365=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428661G>C | CA428873070 | PROC | c.1101G>C (p.Val367=) c.425G>C c.1203G>C (p.Val401=) c.1284G>C (p.Val428=) c.1266G>C (p.Val422=) c.1164G>C (p.Val388=) n.1332-397C>G c.1344G>C (p.Val448=) c.1446G>C (p.Val482=) c.1386G>C (p.Val462=) n.3607-397C>G n.4043-397C>G c.1269G>C (p.Val423=) c.1287G>C (p.Val429=) c.1044G>C (p.Val348=) c.1077G>C (p.Val359=) c.1095G>C (p.Val365=) | |
2 | g.127428661G= | CA1286884572 | PROC | c.1101G= (p.Val367=) c.425G= c.1203G= (p.Val401=) c.1284G= (p.Val428=) c.1266G= (p.Val422=) c.1164G= (p.Val388=) n.1332-397C= c.1344G= (p.Val448=) c.1446G= (p.Val482=) c.1386G= (p.Val462=) n.3607-397C= n.4043-397C= c.1269G= (p.Val423=) c.1287G= (p.Val429=) c.1044G= (p.Val348=) c.1077G= (p.Val359=) c.1095G= (p.Val365=) | |
2 | g.127428661G>T | CA428873069 | PROC | c.1101G>T (p.Val367=) c.425G>T c.1203G>T (p.Val401=) c.1284G>T (p.Val428=) c.1266G>T (p.Val422=) c.1164G>T (p.Val388=) n.1332-397C>A c.1344G>T (p.Val448=) c.1446G>T (p.Val482=) c.1386G>T (p.Val462=) n.3607-397C>A n.4043-397C>A c.1269G>T (p.Val423=) c.1287G>T (p.Val429=) c.1044G>T (p.Val348=) c.1077G>T (p.Val359=) c.1095G>T (p.Val365=) | |
2 | g.127428661_127428664del | CA2586969918 | PROC | c.1101_1104del (p.Val368ArgfsTer9) c.425_428del c.1203_1206del (p.Val402ArgfsTer9) c.1284_1287del (p.Val429ArgfsTer9) c.1266_1269del (p.Val423ArgfsTer9) c.1164_1167del (p.Val389ArgfsTer9) n.1332-400_1332-397del c.1344_1347del (p.Val449ArgfsTer9) c.1446_1449del (p.Val483ArgfsTer9) c.1386_1389del (p.Val463ArgfsTer9) n.3607-400_3607-397del n.4043-400_4043-397del c.1269_1272del (p.Val424ArgfsTer9) c.1287_1290del (p.Val430ArgfsTer9) c.1044_1047del (p.Val349ArgfsTer9) c.1077_1080del (p.Val360ArgfsTer9) c.1095_1098del (p.Val366ArgfsTer9) | |
2 | g.127428662G>A | CA1859524 | PROC | c.1102G>A (p.Val368Ile) c.426G>A c.1204G>A (p.Val402Ile) c.1285G>A (p.Val429Ile) c.1267G>A (p.Val423Ile) c.1165G>A (p.Val389Ile) n.1332-398C>T c.1345G>A (p.Val449Ile) c.1447G>A (p.Val483Ile) c.1387G>A (p.Val463Ile) n.3607-398C>T n.4043-398C>T c.1270G>A (p.Val424Ile) c.1288G>A (p.Val430Ile) c.1045G>A (p.Val349Ile) c.1078G>A (p.Val360Ile) c.1096G>A (p.Val366Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428662G>C | CA348405800 | PROC | c.1102G>C (p.Val368Leu) c.426G>C c.1204G>C (p.Val402Leu) c.1285G>C (p.Val429Leu) c.1267G>C (p.Val423Leu) c.1165G>C (p.Val389Leu) n.1332-398C>G c.1345G>C (p.Val449Leu) c.1447G>C (p.Val483Leu) c.1387G>C (p.Val463Leu) n.3607-398C>G n.4043-398C>G c.1270G>C (p.Val424Leu) c.1288G>C (p.Val430Leu) c.1045G>C (p.Val349Leu) c.1078G>C (p.Val360Leu) c.1096G>C (p.Val366Leu) | |
2 | g.127428662G= | CA1286884573 | PROC | c.1102G= (p.Val368=) c.426G= c.1204G= (p.Val402=) c.1285G= (p.Val429=) c.1267G= (p.Val423=) c.1165G= (p.Val389=) n.1332-398C= c.1345G= (p.Val449=) c.1447G= (p.Val483=) c.1387G= (p.Val463=) n.3607-398C= n.4043-398C= c.1270G= (p.Val424=) c.1288G= (p.Val430=) c.1045G= (p.Val349=) c.1078G= (p.Val360=) c.1096G= (p.Val366=) | |
2 | g.127428662G>T | CA348405801 | PROC | c.1102G>T (p.Val368Phe) c.426G>T c.1204G>T (p.Val402Phe) c.1285G>T (p.Val429Phe) c.1267G>T (p.Val423Phe) c.1165G>T (p.Val389Phe) n.1332-398C>A c.1345G>T (p.Val449Phe) c.1447G>T (p.Val483Phe) c.1387G>T (p.Val463Phe) n.3607-398C>A n.4043-398C>A c.1270G>T (p.Val424Phe) c.1288G>T (p.Val430Phe) c.1045G>T (p.Val349Phe) c.1078G>T (p.Val360Phe) c.1096G>T (p.Val366Phe) | gnomAD v4 |
2 | g.127428663T>A | CA348405803 | PROC | c.1103T>A (p.Val368Asp) c.427T>A c.1205T>A (p.Val402Asp) c.1286T>A (p.Val429Asp) c.1268T>A (p.Val423Asp) c.1166T>A (p.Val389Asp) n.1332-399A>T c.1346T>A (p.Val449Asp) c.1448T>A (p.Val483Asp) c.1388T>A (p.Val463Asp) n.3607-399A>T n.4043-399A>T c.1271T>A (p.Val424Asp) c.1289T>A (p.Val430Asp) c.1046T>A (p.Val349Asp) c.1079T>A (p.Val360Asp) c.1097T>A (p.Val366Asp) | |
2 | g.127428663T>C | CA348405805 | PROC | c.1103T>C (p.Val368Ala) c.427T>C c.1205T>C (p.Val402Ala) c.1286T>C (p.Val429Ala) c.1268T>C (p.Val423Ala) c.1166T>C (p.Val389Ala) n.1332-399A>G c.1346T>C (p.Val449Ala) c.1448T>C (p.Val483Ala) c.1388T>C (p.Val463Ala) n.3607-399A>G n.4043-399A>G c.1271T>C (p.Val424Ala) c.1289T>C (p.Val430Ala) c.1046T>C (p.Val349Ala) c.1079T>C (p.Val360Ala) c.1097T>C (p.Val366Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428663T>G | CA348405807 | PROC | c.1103T>G (p.Val368Gly) c.427T>G c.1205T>G (p.Val402Gly) c.1286T>G (p.Val429Gly) c.1268T>G (p.Val423Gly) c.1166T>G (p.Val389Gly) n.1332-399A>C c.1346T>G (p.Val449Gly) c.1448T>G (p.Val483Gly) c.1388T>G (p.Val463Gly) n.3607-399A>C n.4043-399A>C c.1271T>G (p.Val424Gly) c.1289T>G (p.Val430Gly) c.1046T>G (p.Val349Gly) c.1079T>G (p.Val360Gly) c.1097T>G (p.Val366Gly) | |
2 | g.127428663T= | CA1286884574 | PROC | c.1103T= (p.Val368=) c.427T= c.1205T= (p.Val402=) c.1286T= (p.Val429=) c.1268T= (p.Val423=) c.1166T= (p.Val389=) n.1332-399A= c.1346T= (p.Val449=) c.1448T= (p.Val483=) c.1388T= (p.Val463=) n.3607-399A= n.4043-399A= c.1271T= (p.Val424=) c.1289T= (p.Val430=) c.1046T= (p.Val349=) c.1079T= (p.Val360=) c.1097T= (p.Val366=) | |
2 | g.127428664C>A | CA428873073 | PROC | c.1104C>A (p.Val368=) c.428C>A c.1206C>A (p.Val402=) c.1287C>A (p.Val429=) c.1269C>A (p.Val423=) c.1167C>A (p.Val389=) n.1332-400G>T c.1347C>A (p.Val449=) c.1449C>A (p.Val483=) c.1389C>A (p.Val463=) n.3607-400G>T n.4043-400G>T c.1272C>A (p.Val424=) c.1290C>A (p.Val430=) c.1047C>A (p.Val349=) c.1080C>A (p.Val360=) c.1098C>A (p.Val366=) | gnomAD v4 |
2 | g.127428664C>G | CA428873075 | PROC | c.1104C>G (p.Val368=) c.428C>G c.1206C>G (p.Val402=) c.1287C>G (p.Val429=) c.1269C>G (p.Val423=) c.1167C>G (p.Val389=) n.1332-400G>C c.1347C>G (p.Val449=) c.1449C>G (p.Val483=) c.1389C>G (p.Val463=) n.3607-400G>C n.4043-400G>C c.1272C>G (p.Val424=) c.1290C>G (p.Val430=) c.1047C>G (p.Val349=) c.1080C>G (p.Val360=) c.1098C>G (p.Val366=) | |
2 | g.127428664C>T | CA428873077 | PROC | c.1104C>T (p.Val368=) c.428C>T c.1206C>T (p.Val402=) c.1287C>T (p.Val429=) c.1269C>T (p.Val423=) c.1167C>T (p.Val389=) n.1332-400G>A c.1347C>T (p.Val449=) c.1449C>T (p.Val483=) c.1389C>T (p.Val463=) n.3607-400G>A n.4043-400G>A c.1272C>T (p.Val424=) c.1290C>T (p.Val430=) c.1047C>T (p.Val349=) c.1080C>T (p.Val360=) c.1098C>T (p.Val366=) | |
2 | g.127428666del | CA2586969919 | PROC | c.1106del (p.Pro369ArgfsTer9) c.430del c.1208del (p.Pro403ArgfsTer9) c.1289del (p.Pro430ArgfsTer9) c.1271del (p.Pro424ArgfsTer9) c.1169del (p.Pro390ArgfsTer9) n.1332-400del c.1349del (p.Pro450ArgfsTer9) c.1451del (p.Pro484ArgfsTer9) c.1391del (p.Pro464ArgfsTer9) n.3607-400del n.4043-400del c.1274del (p.Pro425ArgfsTer9) c.1292del (p.Pro431ArgfsTer9) c.1049del (p.Pro350ArgfsTer9) c.1082del (p.Pro361ArgfsTer9) c.1100del (p.Pro367ArgfsTer9) | |
2 | g.127428665C>A | CA348405809 | PROC | c.1105C>A (p.Pro369Thr) c.429C>A c.1207C>A (p.Pro403Thr) c.1288C>A (p.Pro430Thr) c.1270C>A (p.Pro424Thr) c.1168C>A (p.Pro390Thr) n.1332-401G>T c.1348C>A (p.Pro450Thr) c.1450C>A (p.Pro484Thr) c.1390C>A (p.Pro464Thr) n.3607-401G>T n.4043-401G>T c.1273C>A (p.Pro425Thr) c.1291C>A (p.Pro431Thr) c.1048C>A (p.Pro350Thr) c.1081C>A (p.Pro361Thr) c.1099C>A (p.Pro367Thr) | |
2 | g.127428665C= | CA1286884575 | PROC | c.1105C= (p.Pro369=) c.429C= c.1207C= (p.Pro403=) c.1288C= (p.Pro430=) c.1270C= (p.Pro424=) c.1168C= (p.Pro390=) n.1332-401G= c.1348C= (p.Pro450=) c.1450C= (p.Pro484=) c.1390C= (p.Pro464=) n.3607-401G= n.4043-401G= c.1273C= (p.Pro425=) c.1291C= (p.Pro431=) c.1048C= (p.Pro350=) c.1081C= (p.Pro361=) c.1099C= (p.Pro367=) | |
2 | g.127428665C>G | CA348405811 | PROC | c.1105C>G (p.Pro369Ala) c.429C>G c.1207C>G (p.Pro403Ala) c.1288C>G (p.Pro430Ala) c.1270C>G (p.Pro424Ala) c.1168C>G (p.Pro390Ala) n.1332-401G>C c.1348C>G (p.Pro450Ala) c.1450C>G (p.Pro484Ala) c.1390C>G (p.Pro464Ala) n.3607-401G>C n.4043-401G>C c.1273C>G (p.Pro425Ala) c.1291C>G (p.Pro431Ala) c.1048C>G (p.Pro350Ala) c.1081C>G (p.Pro361Ala) c.1099C>G (p.Pro367Ala) | |
2 | g.127428665C>T | CA348405813 | PROC | c.1105C>T (p.Pro369Ser) c.429C>T c.1207C>T (p.Pro403Ser) c.1288C>T (p.Pro430Ser) c.1270C>T (p.Pro424Ser) c.1168C>T (p.Pro390Ser) n.1332-401G>A c.1348C>T (p.Pro450Ser) c.1450C>T (p.Pro484Ser) c.1390C>T (p.Pro464Ser) n.3607-401G>A n.4043-401G>A c.1273C>T (p.Pro425Ser) c.1291C>T (p.Pro431Ser) c.1048C>T (p.Pro350Ser) c.1081C>T (p.Pro361Ser) c.1099C>T (p.Pro367Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.127428666C>A | CA348405815 | PROC | c.1106C>A (p.Pro369Gln) c.430C>A c.1208C>A (p.Pro403Gln) c.1289C>A (p.Pro430Gln) c.1271C>A (p.Pro424Gln) c.1169C>A (p.Pro390Gln) n.1332-402G>T c.1349C>A (p.Pro450Gln) c.1451C>A (p.Pro484Gln) c.1391C>A (p.Pro464Gln) n.3607-402G>T n.4043-402G>T c.1274C>A (p.Pro425Gln) c.1292C>A (p.Pro431Gln) c.1049C>A (p.Pro350Gln) c.1082C>A (p.Pro361Gln) c.1100C>A (p.Pro367Gln) | |
2 | g.127428666C= | CA1286884576 | PROC | c.1106C= (p.Pro369=) c.430C= c.1208C= (p.Pro403=) c.1289C= (p.Pro430=) c.1271C= (p.Pro424=) c.1169C= (p.Pro390=) n.1332-402G= c.1349C= (p.Pro450=) c.1451C= (p.Pro484=) c.1391C= (p.Pro464=) n.3607-402G= n.4043-402G= c.1274C= (p.Pro425=) c.1292C= (p.Pro431=) c.1049C= (p.Pro350=) c.1082C= (p.Pro361=) c.1100C= (p.Pro367=) | |
2 | g.127428666C>G | CA348405817 | PROC | c.1106C>G (p.Pro369Arg) c.430C>G c.1208C>G (p.Pro403Arg) c.1289C>G (p.Pro430Arg) c.1271C>G (p.Pro424Arg) c.1169C>G (p.Pro390Arg) n.1332-402G>C c.1349C>G (p.Pro450Arg) c.1451C>G (p.Pro484Arg) c.1391C>G (p.Pro464Arg) n.3607-402G>C n.4043-402G>C c.1274C>G (p.Pro425Arg) c.1292C>G (p.Pro431Arg) c.1049C>G (p.Pro350Arg) c.1082C>G (p.Pro361Arg) c.1100C>G (p.Pro367Arg) | |
2 | g.127428666C>T | CA348405818 | PROC | c.1106C>T (p.Pro369Leu) c.430C>T c.1208C>T (p.Pro403Leu) c.1289C>T (p.Pro430Leu) c.1271C>T (p.Pro424Leu) c.1169C>T (p.Pro390Leu) n.1332-402G>A c.1349C>T (p.Pro450Leu) c.1451C>T (p.Pro484Leu) c.1391C>T (p.Pro464Leu) n.3607-402G>A n.4043-402G>A c.1274C>T (p.Pro425Leu) c.1292C>T (p.Pro431Leu) c.1049C>T (p.Pro350Leu) c.1082C>T (p.Pro361Leu) c.1100C>T (p.Pro367Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428667del | CA2586969920 | PROC | c.1107del (p.His370ThrfsTer8) c.431del c.1209del (p.His404ThrfsTer8) c.1290del (p.His431ThrfsTer8) c.1272del (p.His425ThrfsTer8) c.1170del (p.His391ThrfsTer8) n.1332-403del c.1350del (p.His451ThrfsTer8) c.1452del (p.His485ThrfsTer8) c.1392del (p.His465ThrfsTer8) n.3607-403del n.4043-403del c.1275del (p.His426ThrfsTer8) c.1293del (p.His432ThrfsTer8) c.1050del (p.His351ThrfsTer8) c.1083del (p.His362ThrfsTer8) c.1101del (p.His368ThrfsTer8) | |
2 | g.127428667G>A | CA1859525 | PROC | c.1107G>A (p.Pro369=) c.431G>A c.1209G>A (p.Pro403=) c.1290G>A (p.Pro430=) c.1272G>A (p.Pro424=) c.1170G>A (p.Pro390=) n.1332-403C>T c.1350G>A (p.Pro450=) c.1452G>A (p.Pro484=) c.1392G>A (p.Pro464=) n.3607-403C>T n.4043-403C>T c.1275G>A (p.Pro425=) c.1293G>A (p.Pro431=) c.1050G>A (p.Pro350=) c.1083G>A (p.Pro361=) c.1101G>A (p.Pro367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428667G>C | CA428873099 | PROC | c.1107G>C (p.Pro369=) c.431G>C c.1209G>C (p.Pro403=) c.1290G>C (p.Pro430=) c.1272G>C (p.Pro424=) c.1170G>C (p.Pro390=) n.1332-403C>G c.1350G>C (p.Pro450=) c.1452G>C (p.Pro484=) c.1392G>C (p.Pro464=) n.3607-403C>G n.4043-403C>G c.1275G>C (p.Pro425=) c.1293G>C (p.Pro431=) c.1050G>C (p.Pro350=) c.1083G>C (p.Pro361=) c.1101G>C (p.Pro367=) | |
2 | g.127428667G= | CA1286884577 | PROC | c.1107G= (p.Pro369=) c.431G= c.1209G= (p.Pro403=) c.1290G= (p.Pro430=) c.1272G= (p.Pro424=) c.1170G= (p.Pro390=) n.1332-403C= c.1350G= (p.Pro450=) c.1452G= (p.Pro484=) c.1392G= (p.Pro464=) n.3607-403C= n.4043-403C= c.1275G= (p.Pro425=) c.1293G= (p.Pro431=) c.1050G= (p.Pro350=) c.1083G= (p.Pro361=) c.1101G= (p.Pro367=) | |
2 | g.127428667G>T | CA428873102 | PROC | c.1107G>T (p.Pro369=) c.431G>T c.1209G>T (p.Pro403=) c.1290G>T (p.Pro430=) c.1272G>T (p.Pro424=) c.1170G>T (p.Pro390=) n.1332-403C>A c.1350G>T (p.Pro450=) c.1452G>T (p.Pro484=) c.1392G>T (p.Pro464=) n.3607-403C>A n.4043-403C>A c.1275G>T (p.Pro425=) c.1293G>T (p.Pro431=) c.1050G>T (p.Pro350=) c.1083G>T (p.Pro361=) c.1101G>T (p.Pro367=) | |
2 | g.127428668C>A | CA348405825 | PROC | c.1108C>A (p.His370Asn) c.432C>A c.1210C>A (p.His404Asn) c.1291C>A (p.His431Asn) c.1273C>A (p.His425Asn) c.1171C>A (p.His391Asn) n.1332-404G>T c.1351C>A (p.His451Asn) c.1453C>A (p.His485Asn) c.1393C>A (p.His465Asn) n.3607-404G>T n.4043-404G>T c.1276C>A (p.His426Asn) c.1294C>A (p.His432Asn) c.1051C>A (p.His351Asn) c.1084C>A (p.His362Asn) c.1102C>A (p.His368Asn) | |
2 | g.127428668C>G | CA348405822 | PROC | c.1108C>G (p.His370Asp) c.432C>G c.1210C>G (p.His404Asp) c.1291C>G (p.His431Asp) c.1273C>G (p.His425Asp) c.1171C>G (p.His391Asp) n.1332-404G>C c.1351C>G (p.His451Asp) c.1453C>G (p.His485Asp) c.1393C>G (p.His465Asp) n.3607-404G>C n.4043-404G>C c.1276C>G (p.His426Asp) c.1294C>G (p.His432Asp) c.1051C>G (p.His351Asp) c.1084C>G (p.His362Asp) c.1102C>G (p.His368Asp) | |
2 | g.127428668C>T | CA348405821 | PROC | c.1108C>T (p.His370Tyr) c.432C>T c.1210C>T (p.His404Tyr) c.1291C>T (p.His431Tyr) c.1273C>T (p.His425Tyr) c.1171C>T (p.His391Tyr) n.1332-404G>A c.1351C>T (p.His451Tyr) c.1453C>T (p.His485Tyr) c.1393C>T (p.His465Tyr) n.3607-404G>A n.4043-404G>A c.1276C>T (p.His426Tyr) c.1294C>T (p.His432Tyr) c.1051C>T (p.His351Tyr) c.1084C>T (p.His362Tyr) c.1102C>T (p.His368Tyr) | |
2 | g.127428669A>C | CA348405828 | PROC | c.1109A>C (p.His370Pro) c.433A>C c.1211A>C (p.His404Pro) c.1292A>C (p.His431Pro) c.1274A>C (p.His425Pro) c.1172A>C (p.His391Pro) n.1332-405T>G c.1352A>C (p.His451Pro) c.1454A>C (p.His485Pro) c.1394A>C (p.His465Pro) n.3607-405T>G n.4043-405T>G c.1277A>C (p.His426Pro) c.1295A>C (p.His432Pro) c.1052A>C (p.His351Pro) c.1085A>C (p.His362Pro) c.1103A>C (p.His368Pro) | |
2 | g.127428669A>G | CA348405827 | PROC | c.1109A>G (p.His370Arg) c.433A>G c.1211A>G (p.His404Arg) c.1292A>G (p.His431Arg) c.1274A>G (p.His425Arg) c.1172A>G (p.His391Arg) n.1332-405T>C c.1352A>G (p.His451Arg) c.1454A>G (p.His485Arg) c.1394A>G (p.His465Arg) n.3607-405T>C n.4043-405T>C c.1277A>G (p.His426Arg) c.1295A>G (p.His432Arg) c.1052A>G (p.His351Arg) c.1085A>G (p.His362Arg) c.1103A>G (p.His368Arg) | |
2 | g.127428669A>T | CA348405829 | PROC | c.1109A>T (p.His370Leu) c.433A>T c.1211A>T (p.His404Leu) c.1292A>T (p.His431Leu) c.1274A>T (p.His425Leu) c.1172A>T (p.His391Leu) n.1332-405T>A c.1352A>T (p.His451Leu) c.1454A>T (p.His485Leu) c.1394A>T (p.His465Leu) n.3607-405T>A n.4043-405T>A c.1277A>T (p.His426Leu) c.1295A>T (p.His432Leu) c.1052A>T (p.His351Leu) c.1085A>T (p.His362Leu) c.1103A>T (p.His368Leu) | |
2 | g.127428670C>A | CA1859526 | PROC | c.1110C>A (p.His370Gln) c.434C>A c.1212C>A (p.His404Gln) c.1293C>A (p.His431Gln) c.1275C>A (p.His425Gln) c.1173C>A (p.His391Gln) n.1332-406G>T c.1353C>A (p.His451Gln) c.1455C>A (p.His485Gln) c.1395C>A (p.His465Gln) n.3607-406G>T n.4043-406G>T c.1278C>A (p.His426Gln) c.1296C>A (p.His432Gln) c.1053C>A (p.His351Gln) c.1086C>A (p.His362Gln) c.1104C>A (p.His368Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428670C= | CA1286884578 | PROC | c.1110C= (p.His370=) c.434C= c.1212C= (p.His404=) c.1293C= (p.His431=) c.1275C= (p.His425=) c.1173C= (p.His391=) n.1332-406G= c.1353C= (p.His451=) c.1455C= (p.His485=) c.1395C= (p.His465=) n.3607-406G= n.4043-406G= c.1278C= (p.His426=) c.1296C= (p.His432=) c.1053C= (p.His351=) c.1086C= (p.His362=) c.1104C= (p.His368=) | |
2 | g.127428670C>G | CA348405832 | PROC | c.1110C>G (p.His370Gln) c.434C>G c.1212C>G (p.His404Gln) c.1293C>G (p.His431Gln) c.1275C>G (p.His425Gln) c.1173C>G (p.His391Gln) n.1332-406G>C c.1353C>G (p.His451Gln) c.1455C>G (p.His485Gln) c.1395C>G (p.His465Gln) n.3607-406G>C n.4043-406G>C c.1278C>G (p.His426Gln) c.1296C>G (p.His432Gln) c.1053C>G (p.His351Gln) c.1086C>G (p.His362Gln) c.1104C>G (p.His368Gln) | |
2 | g.127428670C>T | CA428873103 | PROC | c.1110C>T (p.His370=) c.434C>T c.1212C>T (p.His404=) c.1293C>T (p.His431=) c.1275C>T (p.His425=) c.1173C>T (p.His391=) n.1332-406G>A c.1353C>T (p.His451=) c.1455C>T (p.His485=) c.1395C>T (p.His465=) n.3607-406G>A n.4043-406G>A c.1278C>T (p.His426=) c.1296C>T (p.His432=) c.1053C>T (p.His351=) c.1086C>T (p.His362=) c.1104C>T (p.His368=) | |
2 | g.127428670_127428673delinsCAAT | CA1286884579 | PROC | c.1110_1113delinsCAAT (p.His370=) c.434_437delinsCAAT c.1212_1215delinsCAAT (p.His404=) c.1293_1296delinsCAAT (p.His431=) c.1275_1278delinsCAAT (p.His425=) c.1173_1176delinsCAAT (p.His391=) n.1332-409_1332-406delinsATTG c.1353_1356delinsCAAT (p.His451=) c.1455_1458delinsCAAT (p.His485=) c.1395_1398delinsCAAT (p.His465=) n.3607-409_3607-406delinsATTG n.4043-409_4043-406delinsATTG c.1278_1281delinsCAAT (p.His426=) c.1296_1299delinsCAAT (p.His432=) c.1053_1056delinsCAAT (p.His351=) c.1086_1089delinsCAAT (p.His362=) c.1104_1107delinsCAAT (p.His368=) | |
2 | g.127428671A= | CA1286884580 | PROC | c.1111A= (p.Asn371=) c.435A= c.1213A= (p.Asn405=) c.1294A= (p.Asn432=) c.1276A= (p.Asn426=) c.1174A= (p.Asn392=) n.1332-407T= c.1354A= (p.Asn452=) c.1456A= (p.Asn486=) c.1396A= (p.Asn466=) n.3607-407T= n.4043-407T= c.1279A= (p.Asn427=) c.1297A= (p.Asn433=) c.1054A= (p.Asn352=) c.1087A= (p.Asn363=) c.1105A= (p.Asn369=) | |
2 | g.127428671A>C | CA348405834 | PROC | c.1111A>C (p.Asn371His) c.435A>C c.1213A>C (p.Asn405His) c.1294A>C (p.Asn432His) c.1276A>C (p.Asn426His) c.1174A>C (p.Asn392His) n.1332-407T>G c.1354A>C (p.Asn452His) c.1456A>C (p.Asn486His) c.1396A>C (p.Asn466His) n.3607-407T>G n.4043-407T>G c.1279A>C (p.Asn427His) c.1297A>C (p.Asn433His) c.1054A>C (p.Asn352His) c.1087A>C (p.Asn363His) c.1105A>C (p.Asn369His) | |
2 | g.127428671A>G | CA1859527 | PROC | c.1111A>G (p.Asn371Asp) c.435A>G c.1213A>G (p.Asn405Asp) c.1294A>G (p.Asn432Asp) c.1276A>G (p.Asn426Asp) c.1174A>G (p.Asn392Asp) n.1332-407T>C c.1354A>G (p.Asn452Asp) c.1456A>G (p.Asn486Asp) c.1396A>G (p.Asn466Asp) n.3607-407T>C n.4043-407T>C c.1279A>G (p.Asn427Asp) c.1297A>G (p.Asn433Asp) c.1054A>G (p.Asn352Asp) c.1087A>G (p.Asn363Asp) c.1105A>G (p.Asn369Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428671A>T | CA348405837 | PROC | c.1111A>T (p.Asn371Tyr) c.435A>T c.1213A>T (p.Asn405Tyr) c.1294A>T (p.Asn432Tyr) c.1276A>T (p.Asn426Tyr) c.1174A>T (p.Asn392Tyr) n.1332-407T>A c.1354A>T (p.Asn452Tyr) c.1456A>T (p.Asn486Tyr) c.1396A>T (p.Asn466Tyr) n.3607-407T>A n.4043-407T>A c.1279A>T (p.Asn427Tyr) c.1297A>T (p.Asn433Tyr) c.1054A>T (p.Asn352Tyr) c.1087A>T (p.Asn363Tyr) c.1105A>T (p.Asn369Tyr) | |
2 | g.127428671_127428673del | CA756631136 | PROC | c.1111_1113del (p.Asn371del) c.435_437del c.1213_1215del (p.Asn405del) c.1294_1296del (p.Asn432del) c.1276_1278del (p.Asn426del) c.1174_1176del (p.Asn392del) n.1332-409_1332-407del c.1354_1356del (p.Asn452del) c.1456_1458del (p.Asn486del) c.1396_1398del (p.Asn466del) n.3607-409_3607-407del n.4043-409_4043-407del c.1279_1281del (p.Asn427del) c.1297_1299del (p.Asn433del) c.1054_1056del (p.Asn352del) c.1087_1089del (p.Asn363del) c.1105_1107del (p.Asn369del) | dbSNP |
2 | g.127428672A= | CA1286884581 | PROC | c.1112A= (p.Asn371=) c.436A= c.1214A= (p.Asn405=) c.1295A= (p.Asn432=) c.1277A= (p.Asn426=) c.1175A= (p.Asn392=) n.1332-408T= c.1355A= (p.Asn452=) c.1457A= (p.Asn486=) c.1397A= (p.Asn466=) n.3607-408T= n.4043-408T= c.1280A= (p.Asn427=) c.1298A= (p.Asn433=) c.1055A= (p.Asn352=) c.1088A= (p.Asn363=) c.1106A= (p.Asn369=) | |
2 | g.127428672A>C | CA348405838 | PROC | c.1112A>C (p.Asn371Thr) c.436A>C c.1214A>C (p.Asn405Thr) c.1295A>C (p.Asn432Thr) c.1277A>C (p.Asn426Thr) c.1175A>C (p.Asn392Thr) n.1332-408T>G c.1355A>C (p.Asn452Thr) c.1457A>C (p.Asn486Thr) c.1397A>C (p.Asn466Thr) n.3607-408T>G n.4043-408T>G c.1280A>C (p.Asn427Thr) c.1298A>C (p.Asn433Thr) c.1055A>C (p.Asn352Thr) c.1088A>C (p.Asn363Thr) c.1106A>C (p.Asn369Thr) | dbSNP gnomAD v4 |
2 | g.127428672A>G | CA348405840 | PROC | c.1112A>G (p.Asn371Ser) c.436A>G c.1214A>G (p.Asn405Ser) c.1295A>G (p.Asn432Ser) c.1277A>G (p.Asn426Ser) c.1175A>G (p.Asn392Ser) n.1332-408T>C c.1355A>G (p.Asn452Ser) c.1457A>G (p.Asn486Ser) c.1397A>G (p.Asn466Ser) n.3607-408T>C n.4043-408T>C c.1280A>G (p.Asn427Ser) c.1298A>G (p.Asn433Ser) c.1055A>G (p.Asn352Ser) c.1088A>G (p.Asn363Ser) c.1106A>G (p.Asn369Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428672A>T | CA348405841 | PROC | c.1112A>T (p.Asn371Ile) c.436A>T c.1214A>T (p.Asn405Ile) c.1295A>T (p.Asn432Ile) c.1277A>T (p.Asn426Ile) c.1175A>T (p.Asn392Ile) n.1332-408T>A c.1355A>T (p.Asn452Ile) c.1457A>T (p.Asn486Ile) c.1397A>T (p.Asn466Ile) n.3607-408T>A n.4043-408T>A c.1280A>T (p.Asn427Ile) c.1298A>T (p.Asn433Ile) c.1055A>T (p.Asn352Ile) c.1088A>T (p.Asn363Ile) c.1106A>T (p.Asn369Ile) | |
2 | g.127428673T>A | CA348405844 | PROC | c.1113T>A (p.Asn371Lys) c.437T>A c.1215T>A (p.Asn405Lys) c.1296T>A (p.Asn432Lys) c.1278T>A (p.Asn426Lys) c.1176T>A (p.Asn392Lys) n.1332-409A>T c.1356T>A (p.Asn452Lys) c.1458T>A (p.Asn486Lys) c.1398T>A (p.Asn466Lys) n.3607-409A>T n.4043-409A>T c.1281T>A (p.Asn427Lys) c.1299T>A (p.Asn433Lys) c.1056T>A (p.Asn352Lys) c.1089T>A (p.Asn363Lys) c.1107T>A (p.Asn369Lys) | |
2 | g.127428673T>C | CA428873119 | PROC | c.1113T>C (p.Asn371=) c.437T>C c.1215T>C (p.Asn405=) c.1296T>C (p.Asn432=) c.1278T>C (p.Asn426=) c.1176T>C (p.Asn392=) n.1332-409A>G c.1356T>C (p.Asn452=) c.1458T>C (p.Asn486=) c.1398T>C (p.Asn466=) n.3607-409A>G n.4043-409A>G c.1281T>C (p.Asn427=) c.1299T>C (p.Asn433=) c.1056T>C (p.Asn352=) c.1089T>C (p.Asn363=) c.1107T>C (p.Asn369=) | dbSNP gnomAD v4 |
2 | g.127428673T>G | CA348405845 | PROC | c.1113T>G (p.Asn371Lys) c.437T>G c.1215T>G (p.Asn405Lys) c.1296T>G (p.Asn432Lys) c.1278T>G (p.Asn426Lys) c.1176T>G (p.Asn392Lys) n.1332-409A>C c.1356T>G (p.Asn452Lys) c.1458T>G (p.Asn486Lys) c.1398T>G (p.Asn466Lys) n.3607-409A>C n.4043-409A>C c.1281T>G (p.Asn427Lys) c.1299T>G (p.Asn433Lys) c.1056T>G (p.Asn352Lys) c.1089T>G (p.Asn363Lys) c.1107T>G (p.Asn369Lys) | |
2 | g.127428673T= | CA1286884582 | PROC | c.1113T= (p.Asn371=) c.437T= c.1215T= (p.Asn405=) c.1296T= (p.Asn432=) c.1278T= (p.Asn426=) c.1176T= (p.Asn392=) n.1332-409A= c.1356T= (p.Asn452=) c.1458T= (p.Asn486=) c.1398T= (p.Asn466=) n.3607-409A= n.4043-409A= c.1281T= (p.Asn427=) c.1299T= (p.Asn433=) c.1056T= (p.Asn352=) c.1089T= (p.Asn363=) c.1107T= (p.Asn369=) | |
2 | g.127428674G>A | CA348405847 | PROC | c.1114G>A (p.Glu372Lys) c.438G>A c.1216G>A (p.Glu406Lys) c.1297G>A (p.Glu433Lys) c.1279G>A (p.Glu427Lys) c.1177G>A (p.Glu393Lys) n.1332-410C>T c.1357G>A (p.Glu453Lys) c.1459G>A (p.Glu487Lys) c.1399G>A (p.Glu467Lys) n.3607-410C>T n.4043-410C>T c.1282G>A (p.Glu428Lys) c.1300G>A (p.Glu434Lys) c.1057G>A (p.Glu353Lys) c.1090G>A (p.Glu364Lys) c.1108G>A (p.Glu370Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428674G>C | CA348405849 | PROC | c.1114G>C (p.Glu372Gln) c.438G>C c.1216G>C (p.Glu406Gln) c.1297G>C (p.Glu433Gln) c.1279G>C (p.Glu427Gln) c.1177G>C (p.Glu393Gln) n.1332-410C>G c.1357G>C (p.Glu453Gln) c.1459G>C (p.Glu487Gln) c.1399G>C (p.Glu467Gln) n.3607-410C>G n.4043-410C>G c.1282G>C (p.Glu428Gln) c.1300G>C (p.Glu434Gln) c.1057G>C (p.Glu353Gln) c.1090G>C (p.Glu364Gln) c.1108G>C (p.Glu370Gln) | |
2 | g.127428674G= | CA1286884583 | PROC | c.1114G= (p.Glu372=) c.438G= c.1216G= (p.Glu406=) c.1297G= (p.Glu433=) c.1279G= (p.Glu427=) c.1177G= (p.Glu393=) n.1332-410C= c.1357G= (p.Glu453=) c.1459G= (p.Glu487=) c.1399G= (p.Glu467=) n.3607-410C= n.4043-410C= c.1282G= (p.Glu428=) c.1300G= (p.Glu434=) c.1057G= (p.Glu353=) c.1090G= (p.Glu364=) c.1108G= (p.Glu370=) | |
2 | g.127428674G>T | CA348405850 | PROC | c.1114G>T (p.Glu372Ter) c.438G>T c.1216G>T (p.Glu406Ter) c.1297G>T (p.Glu433Ter) c.1279G>T (p.Glu427Ter) c.1177G>T (p.Glu393Ter) n.1332-410C>A c.1357G>T (p.Glu453Ter) c.1459G>T (p.Glu487Ter) c.1399G>T (p.Glu467Ter) n.3607-410C>A n.4043-410C>A c.1282G>T (p.Glu428Ter) c.1300G>T (p.Glu434Ter) c.1057G>T (p.Glu353Ter) c.1090G>T (p.Glu364Ter) c.1108G>T (p.Glu370Ter) | |
2 | g.127428675A= | CA1286884584 | PROC | c.1115A= (p.Glu372=) c.439A= c.1217A= (p.Glu406=) c.1298A= (p.Glu433=) c.1280A= (p.Glu427=) c.1178A= (p.Glu393=) n.1332-411T= c.1358A= (p.Glu453=) c.1460A= (p.Glu487=) c.1400A= (p.Glu467=) n.3607-411T= n.4043-411T= c.1283A= (p.Glu428=) c.1301A= (p.Glu434=) c.1058A= (p.Glu353=) c.1091A= (p.Glu364=) c.1109A= (p.Glu370=) | |
2 | g.127428675A>C | CA348405852 | PROC | c.1115A>C (p.Glu372Ala) c.439A>C c.1217A>C (p.Glu406Ala) c.1298A>C (p.Glu433Ala) c.1280A>C (p.Glu427Ala) c.1178A>C (p.Glu393Ala) n.1332-411T>G c.1358A>C (p.Glu453Ala) c.1460A>C (p.Glu487Ala) c.1400A>C (p.Glu467Ala) n.3607-411T>G n.4043-411T>G c.1283A>C (p.Glu428Ala) c.1301A>C (p.Glu434Ala) c.1058A>C (p.Glu353Ala) c.1091A>C (p.Glu364Ala) c.1109A>C (p.Glu370Ala) | gnomAD v4 |
2 | g.127428675A>G | CA55351185 | PROC | c.1115A>G (p.Glu372Gly) c.439A>G c.1217A>G (p.Glu406Gly) c.1298A>G (p.Glu433Gly) c.1280A>G (p.Glu427Gly) c.1178A>G (p.Glu393Gly) n.1332-411T>C c.1358A>G (p.Glu453Gly) c.1460A>G (p.Glu487Gly) c.1400A>G (p.Glu467Gly) n.3607-411T>C n.4043-411T>C c.1283A>G (p.Glu428Gly) c.1301A>G (p.Glu434Gly) c.1058A>G (p.Glu353Gly) c.1091A>G (p.Glu364Gly) c.1109A>G (p.Glu370Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428675A>T | CA348405854 | PROC | c.1115A>T (p.Glu372Val) c.439A>T c.1217A>T (p.Glu406Val) c.1298A>T (p.Glu433Val) c.1280A>T (p.Glu427Val) c.1178A>T (p.Glu393Val) n.1332-411T>A c.1358A>T (p.Glu453Val) c.1460A>T (p.Glu487Val) c.1400A>T (p.Glu467Val) n.3607-411T>A n.4043-411T>A c.1283A>T (p.Glu428Val) c.1301A>T (p.Glu434Val) c.1058A>T (p.Glu353Val) c.1091A>T (p.Glu364Val) c.1109A>T (p.Glu370Val) | gnomAD v4 |
2 | g.127428676G>A | CA428873134 | PROC | c.1116G>A (p.Glu372=) c.440G>A c.1218G>A (p.Glu406=) c.1299G>A (p.Glu433=) c.1281G>A (p.Glu427=) c.1179G>A (p.Glu393=) n.1332-412C>T c.1359G>A (p.Glu453=) c.1461G>A (p.Glu487=) c.1401G>A (p.Glu467=) n.3607-412C>T n.4043-412C>T c.1284G>A (p.Glu428=) c.1302G>A (p.Glu434=) c.1059G>A (p.Glu353=) c.1092G>A (p.Glu364=) c.1110G>A (p.Glu370=) | |
2 | g.127428676G>C | CA348405856 | PROC | c.1116G>C (p.Glu372Asp) c.440G>C c.1218G>C (p.Glu406Asp) c.1299G>C (p.Glu433Asp) c.1281G>C (p.Glu427Asp) c.1179G>C (p.Glu393Asp) n.1332-412C>G c.1359G>C (p.Glu453Asp) c.1461G>C (p.Glu487Asp) c.1401G>C (p.Glu467Asp) n.3607-412C>G n.4043-412C>G c.1284G>C (p.Glu428Asp) c.1302G>C (p.Glu434Asp) c.1059G>C (p.Glu353Asp) c.1092G>C (p.Glu364Asp) c.1110G>C (p.Glu370Asp) | |
2 | g.127428676G>T | CA348405858 | PROC | c.1116G>T (p.Glu372Asp) c.440G>T c.1218G>T (p.Glu406Asp) c.1299G>T (p.Glu433Asp) c.1281G>T (p.Glu427Asp) c.1179G>T (p.Glu393Asp) n.1332-412C>A c.1359G>T (p.Glu453Asp) c.1461G>T (p.Glu487Asp) c.1401G>T (p.Glu467Asp) n.3607-412C>A n.4043-412C>A c.1284G>T (p.Glu428Asp) c.1302G>T (p.Glu434Asp) c.1059G>T (p.Glu353Asp) c.1092G>T (p.Glu364Asp) c.1110G>T (p.Glu370Asp) | |
2 | g.127428677T>A | CA348405860 | PROC | c.1117T>A (p.Cys373Ser) c.441T>A c.1219T>A (p.Cys407Ser) c.1300T>A (p.Cys434Ser) c.1282T>A (p.Cys428Ser) c.1180T>A (p.Cys394Ser) n.1332-413A>T c.1360T>A (p.Cys454Ser) c.1462T>A (p.Cys488Ser) c.1402T>A (p.Cys468Ser) n.3607-413A>T n.4043-413A>T c.1285T>A (p.Cys429Ser) c.1303T>A (p.Cys435Ser) c.1060T>A (p.Cys354Ser) c.1093T>A (p.Cys365Ser) c.1111T>A (p.Cys371Ser) | ClinVar |
2 | g.127428677T>C | CA348405861 | PROC | c.1117T>C (p.Cys373Arg) c.441T>C c.1219T>C (p.Cys407Arg) c.1300T>C (p.Cys434Arg) c.1282T>C (p.Cys428Arg) c.1180T>C (p.Cys394Arg) n.1332-413A>G c.1360T>C (p.Cys454Arg) c.1462T>C (p.Cys488Arg) c.1402T>C (p.Cys468Arg) n.3607-413A>G n.4043-413A>G c.1285T>C (p.Cys429Arg) c.1303T>C (p.Cys435Arg) c.1060T>C (p.Cys354Arg) c.1093T>C (p.Cys365Arg) c.1111T>C (p.Cys371Arg) | COSMIC COSMIC |
2 | g.127428677T>G | CA348405863 | PROC | c.1117T>G (p.Cys373Gly) c.441T>G c.1219T>G (p.Cys407Gly) c.1300T>G (p.Cys434Gly) c.1282T>G (p.Cys428Gly) c.1180T>G (p.Cys394Gly) n.1332-413A>C c.1360T>G (p.Cys454Gly) c.1462T>G (p.Cys488Gly) c.1402T>G (p.Cys468Gly) n.3607-413A>C n.4043-413A>C c.1285T>G (p.Cys429Gly) c.1303T>G (p.Cys435Gly) c.1060T>G (p.Cys354Gly) c.1093T>G (p.Cys365Gly) c.1111T>G (p.Cys371Gly) | |
2 | g.127428678G>A | CA348405866 | PROC | c.1118G>A (p.Cys373Tyr) c.442G>A c.1220G>A (p.Cys407Tyr) c.1301G>A (p.Cys434Tyr) c.1283G>A (p.Cys428Tyr) c.1181G>A (p.Cys394Tyr) n.1332-414C>T c.1361G>A (p.Cys454Tyr) c.1463G>A (p.Cys488Tyr) c.1403G>A (p.Cys468Tyr) n.3607-414C>T n.4043-414C>T c.1286G>A (p.Cys429Tyr) c.1304G>A (p.Cys435Tyr) c.1061G>A (p.Cys354Tyr) c.1094G>A (p.Cys365Tyr) c.1112G>A (p.Cys371Tyr) | |
2 | g.127428678G>C | CA348405867 | PROC | c.1118G>C (p.Cys373Ser) c.442G>C c.1220G>C (p.Cys407Ser) c.1301G>C (p.Cys434Ser) c.1283G>C (p.Cys428Ser) c.1181G>C (p.Cys394Ser) n.1332-414C>G c.1361G>C (p.Cys454Ser) c.1463G>C (p.Cys488Ser) c.1403G>C (p.Cys468Ser) n.3607-414C>G n.4043-414C>G c.1286G>C (p.Cys429Ser) c.1304G>C (p.Cys435Ser) c.1061G>C (p.Cys354Ser) c.1094G>C (p.Cys365Ser) c.1112G>C (p.Cys371Ser) | |
2 | g.127428678G>T | CA348405869 | PROC | c.1118G>T (p.Cys373Phe) c.442G>T c.1220G>T (p.Cys407Phe) c.1301G>T (p.Cys434Phe) c.1283G>T (p.Cys428Phe) c.1181G>T (p.Cys394Phe) n.1332-414C>A c.1361G>T (p.Cys454Phe) c.1463G>T (p.Cys488Phe) c.1403G>T (p.Cys468Phe) n.3607-414C>A n.4043-414C>A c.1286G>T (p.Cys429Phe) c.1304G>T (p.Cys435Phe) c.1061G>T (p.Cys354Phe) c.1094G>T (p.Cys365Phe) c.1112G>T (p.Cys371Phe) | |
2 | g.127428679C>A | CA348405872 | PROC | c.1119C>A (p.Cys373Ter) c.443C>A c.1221C>A (p.Cys407Ter) c.1302C>A (p.Cys434Ter) c.1284C>A (p.Cys428Ter) c.1182C>A (p.Cys394Ter) n.1332-415G>T c.1362C>A (p.Cys454Ter) c.1464C>A (p.Cys488Ter) c.1404C>A (p.Cys468Ter) n.3607-415G>T n.4043-415G>T c.1287C>A (p.Cys429Ter) c.1305C>A (p.Cys435Ter) c.1062C>A (p.Cys354Ter) c.1095C>A (p.Cys365Ter) c.1113C>A (p.Cys371Ter) | |
2 | g.127428679C>G | CA348405873 | PROC | c.1119C>G (p.Cys373Trp) c.443C>G c.1221C>G (p.Cys407Trp) c.1302C>G (p.Cys434Trp) c.1284C>G (p.Cys428Trp) c.1182C>G (p.Cys394Trp) n.1332-415G>C c.1362C>G (p.Cys454Trp) c.1464C>G (p.Cys488Trp) c.1404C>G (p.Cys468Trp) n.3607-415G>C n.4043-415G>C c.1287C>G (p.Cys429Trp) c.1305C>G (p.Cys435Trp) c.1062C>G (p.Cys354Trp) c.1095C>G (p.Cys365Trp) c.1113C>G (p.Cys371Trp) | |
2 | g.127428679C>T | CA428873164 | PROC | c.1119C>T (p.Cys373=) c.443C>T c.1221C>T (p.Cys407=) c.1302C>T (p.Cys434=) c.1284C>T (p.Cys428=) c.1182C>T (p.Cys394=) n.1332-415G>A c.1362C>T (p.Cys454=) c.1464C>T (p.Cys488=) c.1404C>T (p.Cys468=) n.3607-415G>A n.4043-415G>A c.1287C>T (p.Cys429=) c.1305C>T (p.Cys435=) c.1062C>T (p.Cys354=) c.1095C>T (p.Cys365=) c.1113C>T (p.Cys371=) | gnomAD v4 |
2 | g.127428680A= | CA1286884585 | PROC | c.1120A= (p.Ser374=) c.444A= c.1222A= (p.Ser408=) c.1303A= (p.Ser435=) c.1285A= (p.Ser429=) c.1183A= (p.Ser395=) n.1332-416T= c.1363A= (p.Ser455=) c.1465A= (p.Ser489=) c.1405A= (p.Ser469=) n.3607-416T= n.4043-416T= c.1288A= (p.Ser430=) c.1306A= (p.Ser436=) c.1063A= (p.Ser355=) c.1096A= (p.Ser366=) c.1114A= (p.Ser372=) | |
2 | g.127428680A>C | CA348405876 | PROC | c.1120A>C (p.Ser374Arg) c.444A>C c.1222A>C (p.Ser408Arg) c.1303A>C (p.Ser435Arg) c.1285A>C (p.Ser429Arg) c.1183A>C (p.Ser395Arg) n.1332-416T>G c.1363A>C (p.Ser455Arg) c.1465A>C (p.Ser489Arg) c.1405A>C (p.Ser469Arg) n.3607-416T>G n.4043-416T>G c.1288A>C (p.Ser430Arg) c.1306A>C (p.Ser436Arg) c.1063A>C (p.Ser355Arg) c.1096A>C (p.Ser366Arg) c.1114A>C (p.Ser372Arg) | |
2 | g.127428680A>G | CA55351197 | PROC | c.1120A>G (p.Ser374Gly) c.444A>G c.1222A>G (p.Ser408Gly) c.1303A>G (p.Ser435Gly) c.1285A>G (p.Ser429Gly) c.1183A>G (p.Ser395Gly) n.1332-416T>C c.1363A>G (p.Ser455Gly) c.1465A>G (p.Ser489Gly) c.1405A>G (p.Ser469Gly) n.3607-416T>C n.4043-416T>C c.1288A>G (p.Ser430Gly) c.1306A>G (p.Ser436Gly) c.1063A>G (p.Ser355Gly) c.1096A>G (p.Ser366Gly) c.1114A>G (p.Ser372Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428680A>T | CA1859528 | PROC | c.1120A>T (p.Ser374Cys) c.444A>T c.1222A>T (p.Ser408Cys) c.1303A>T (p.Ser435Cys) c.1285A>T (p.Ser429Cys) c.1183A>T (p.Ser395Cys) n.1332-416T>A c.1363A>T (p.Ser455Cys) c.1465A>T (p.Ser489Cys) c.1405A>T (p.Ser469Cys) n.3607-416T>A n.4043-416T>A c.1288A>T (p.Ser430Cys) c.1306A>T (p.Ser436Cys) c.1063A>T (p.Ser355Cys) c.1096A>T (p.Ser366Cys) c.1114A>T (p.Ser372Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428681G>A | CA1859529 | PROC | c.1121G>A (p.Ser374Asn) c.445G>A c.1223G>A (p.Ser408Asn) c.1304G>A (p.Ser435Asn) c.1286G>A (p.Ser429Asn) c.1184G>A (p.Ser395Asn) n.1332-417C>T c.1364G>A (p.Ser455Asn) c.1466G>A (p.Ser489Asn) c.1406G>A (p.Ser469Asn) n.3607-417C>T n.4043-417C>T c.1289G>A (p.Ser430Asn) c.1307G>A (p.Ser436Asn) c.1064G>A (p.Ser355Asn) c.1097G>A (p.Ser366Asn) c.1115G>A (p.Ser372Asn) | dbSNP ExAC |
2 | g.127428681G>C | CA348405877 | PROC | c.1121G>C (p.Ser374Thr) c.445G>C c.1223G>C (p.Ser408Thr) c.1304G>C (p.Ser435Thr) c.1286G>C (p.Ser429Thr) c.1184G>C (p.Ser395Thr) n.1332-417C>G c.1364G>C (p.Ser455Thr) c.1466G>C (p.Ser489Thr) c.1406G>C (p.Ser469Thr) n.3607-417C>G n.4043-417C>G c.1289G>C (p.Ser430Thr) c.1307G>C (p.Ser436Thr) c.1064G>C (p.Ser355Thr) c.1097G>C (p.Ser366Thr) c.1115G>C (p.Ser372Thr) | |
2 | g.127428681G= | CA1286884586 | PROC | c.1121G= (p.Ser374=) c.445G= c.1223G= (p.Ser408=) c.1304G= (p.Ser435=) c.1286G= (p.Ser429=) c.1184G= (p.Ser395=) n.1332-417C= c.1364G= (p.Ser455=) c.1466G= (p.Ser489=) c.1406G= (p.Ser469=) n.3607-417C= n.4043-417C= c.1289G= (p.Ser430=) c.1307G= (p.Ser436=) c.1064G= (p.Ser355=) c.1097G= (p.Ser366=) c.1115G= (p.Ser372=) | |
2 | g.127428681G>T | CA348405879 | PROC | c.1121G>T (p.Ser374Ile) c.445G>T c.1223G>T (p.Ser408Ile) c.1304G>T (p.Ser435Ile) c.1286G>T (p.Ser429Ile) c.1184G>T (p.Ser395Ile) n.1332-417C>A c.1364G>T (p.Ser455Ile) c.1466G>T (p.Ser489Ile) c.1406G>T (p.Ser469Ile) n.3607-417C>A n.4043-417C>A c.1289G>T (p.Ser430Ile) c.1307G>T (p.Ser436Ile) c.1064G>T (p.Ser355Ile) c.1097G>T (p.Ser366Ile) c.1115G>T (p.Ser372Ile) | |
2 | g.127428682C>A | CA348405881 | PROC | c.1122C>A (p.Ser374Arg) c.446C>A c.1224C>A (p.Ser408Arg) c.1305C>A (p.Ser435Arg) c.1287C>A (p.Ser429Arg) c.1185C>A (p.Ser395Arg) n.1332-418G>T c.1365C>A (p.Ser455Arg) c.1467C>A (p.Ser489Arg) c.1407C>A (p.Ser469Arg) n.3607-418G>T n.4043-418G>T c.1290C>A (p.Ser430Arg) c.1308C>A (p.Ser436Arg) c.1065C>A (p.Ser355Arg) c.1098C>A (p.Ser366Arg) c.1116C>A (p.Ser372Arg) | |
2 | g.127428682C= | CA1286884587 | PROC | c.1122C= (p.Ser374=) c.446C= c.1224C= (p.Ser408=) c.1305C= (p.Ser435=) c.1287C= (p.Ser429=) c.1185C= (p.Ser395=) n.1332-418G= c.1365C= (p.Ser455=) c.1467C= (p.Ser489=) c.1407C= (p.Ser469=) n.3607-418G= n.4043-418G= c.1290C= (p.Ser430=) c.1308C= (p.Ser436=) c.1065C= (p.Ser355=) c.1098C= (p.Ser366=) c.1116C= (p.Ser372=) | |
2 | g.127428682C>G | CA348405882 | PROC | c.1122C>G (p.Ser374Arg) c.446C>G c.1224C>G (p.Ser408Arg) c.1305C>G (p.Ser435Arg) c.1287C>G (p.Ser429Arg) c.1185C>G (p.Ser395Arg) n.1332-418G>C c.1365C>G (p.Ser455Arg) c.1467C>G (p.Ser489Arg) c.1407C>G (p.Ser469Arg) n.3607-418G>C n.4043-418G>C c.1290C>G (p.Ser430Arg) c.1308C>G (p.Ser436Arg) c.1065C>G (p.Ser355Arg) c.1098C>G (p.Ser366Arg) c.1116C>G (p.Ser372Arg) | |
2 | g.127428682C>T | CA1859530 | PROC | c.1122C>T (p.Ser374=) c.446C>T c.1224C>T (p.Ser408=) c.1305C>T (p.Ser435=) c.1287C>T (p.Ser429=) c.1185C>T (p.Ser395=) n.1332-418G>A c.1365C>T (p.Ser455=) c.1467C>T (p.Ser489=) c.1407C>T (p.Ser469=) n.3607-418G>A n.4043-418G>A c.1290C>T (p.Ser430=) c.1308C>T (p.Ser436=) c.1065C>T (p.Ser355=) c.1098C>T (p.Ser366=) c.1116C>T (p.Ser372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428683G>A | CA1859531 | PROC | c.1123G>A (p.Glu375Lys) c.447G>A c.1225G>A (p.Glu409Lys) c.1306G>A (p.Glu436Lys) c.1288G>A (p.Glu430Lys) c.1186G>A (p.Glu396Lys) n.1332-419C>T c.1366G>A (p.Glu456Lys) c.1468G>A (p.Glu490Lys) c.1408G>A (p.Glu470Lys) n.3607-419C>T n.4043-419C>T c.1291G>A (p.Glu431Lys) c.1309G>A (p.Glu437Lys) c.1066G>A (p.Glu356Lys) c.1099G>A (p.Glu367Lys) c.1117G>A (p.Glu373Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428683G>C | CA348405885 | PROC | c.1123G>C (p.Glu375Gln) c.447G>C c.1225G>C (p.Glu409Gln) c.1306G>C (p.Glu436Gln) c.1288G>C (p.Glu430Gln) c.1186G>C (p.Glu396Gln) n.1332-419C>G c.1366G>C (p.Glu456Gln) c.1468G>C (p.Glu490Gln) c.1408G>C (p.Glu470Gln) n.3607-419C>G n.4043-419C>G c.1291G>C (p.Glu431Gln) c.1309G>C (p.Glu437Gln) c.1066G>C (p.Glu356Gln) c.1099G>C (p.Glu367Gln) c.1117G>C (p.Glu373Gln) | dbSNP gnomAD v4 |
2 | g.127428683G= | CA1286884588 | PROC | c.1123G= (p.Glu375=) c.447G= c.1225G= (p.Glu409=) c.1306G= (p.Glu436=) c.1288G= (p.Glu430=) c.1186G= (p.Glu396=) n.1332-419C= c.1366G= (p.Glu456=) c.1468G= (p.Glu490=) c.1408G= (p.Glu470=) n.3607-419C= n.4043-419C= c.1291G= (p.Glu431=) c.1309G= (p.Glu437=) c.1066G= (p.Glu356=) c.1099G= (p.Glu367=) c.1117G= (p.Glu373=) | |
2 | g.127428683G>T | CA348405886 | PROC | c.1123G>T (p.Glu375Ter) c.447G>T c.1225G>T (p.Glu409Ter) c.1306G>T (p.Glu436Ter) c.1288G>T (p.Glu430Ter) c.1186G>T (p.Glu396Ter) n.1332-419C>A c.1366G>T (p.Glu456Ter) c.1468G>T (p.Glu490Ter) c.1408G>T (p.Glu470Ter) n.3607-419C>A n.4043-419C>A c.1291G>T (p.Glu431Ter) c.1309G>T (p.Glu437Ter) c.1066G>T (p.Glu356Ter) c.1099G>T (p.Glu367Ter) c.1117G>T (p.Glu373Ter) | |
2 | g.127428684A>C | CA348405890 | PROC | c.1124A>C (p.Glu375Ala) c.448A>C c.1226A>C (p.Glu409Ala) c.1307A>C (p.Glu436Ala) c.1289A>C (p.Glu430Ala) c.1187A>C (p.Glu396Ala) n.1332-420T>G c.1367A>C (p.Glu456Ala) c.1469A>C (p.Glu490Ala) c.1409A>C (p.Glu470Ala) n.3607-420T>G n.4043-420T>G c.1292A>C (p.Glu431Ala) c.1310A>C (p.Glu437Ala) c.1067A>C (p.Glu356Ala) c.1100A>C (p.Glu367Ala) c.1118A>C (p.Glu373Ala) | |
2 | g.127428684A>G | CA348405891 | PROC | c.1124A>G (p.Glu375Gly) c.448A>G c.1226A>G (p.Glu409Gly) c.1307A>G (p.Glu436Gly) c.1289A>G (p.Glu430Gly) c.1187A>G (p.Glu396Gly) n.1332-420T>C c.1367A>G (p.Glu456Gly) c.1469A>G (p.Glu490Gly) c.1409A>G (p.Glu470Gly) n.3607-420T>C n.4043-420T>C c.1292A>G (p.Glu431Gly) c.1310A>G (p.Glu437Gly) c.1067A>G (p.Glu356Gly) c.1100A>G (p.Glu367Gly) c.1118A>G (p.Glu373Gly) | |
2 | g.127428684A>T | CA348405893 | PROC | c.1124A>T (p.Glu375Val) c.448A>T c.1226A>T (p.Glu409Val) c.1307A>T (p.Glu436Val) c.1289A>T (p.Glu430Val) c.1187A>T (p.Glu396Val) n.1332-420T>A c.1367A>T (p.Glu456Val) c.1469A>T (p.Glu490Val) c.1409A>T (p.Glu470Val) n.3607-420T>A n.4043-420T>A c.1292A>T (p.Glu431Val) c.1310A>T (p.Glu437Val) c.1067A>T (p.Glu356Val) c.1100A>T (p.Glu367Val) c.1118A>T (p.Glu373Val) | |
2 | g.127428685G>A | CA428873195 | PROC | c.1125G>A (p.Glu375=) c.449G>A c.1227G>A (p.Glu409=) c.1308G>A (p.Glu436=) c.1290G>A (p.Glu430=) c.1188G>A (p.Glu396=) n.1332-421C>T c.1368G>A (p.Glu456=) c.1470G>A (p.Glu490=) c.1410G>A (p.Glu470=) n.3607-421C>T n.4043-421C>T c.1293G>A (p.Glu431=) c.1311G>A (p.Glu437=) c.1068G>A (p.Glu356=) c.1101G>A (p.Glu367=) c.1119G>A (p.Glu373=) | |
2 | g.127428685G>C | CA348405895 | PROC | c.1125G>C (p.Glu375Asp) c.449G>C c.1227G>C (p.Glu409Asp) c.1308G>C (p.Glu436Asp) c.1290G>C (p.Glu430Asp) c.1188G>C (p.Glu396Asp) n.1332-421C>G c.1368G>C (p.Glu456Asp) c.1470G>C (p.Glu490Asp) c.1410G>C (p.Glu470Asp) n.3607-421C>G n.4043-421C>G c.1293G>C (p.Glu431Asp) c.1311G>C (p.Glu437Asp) c.1068G>C (p.Glu356Asp) c.1101G>C (p.Glu367Asp) c.1119G>C (p.Glu373Asp) | gnomAD v4 |
2 | g.127428685G>T | CA348405897 | PROC | c.1125G>T (p.Glu375Asp) c.449G>T c.1227G>T (p.Glu409Asp) c.1308G>T (p.Glu436Asp) c.1290G>T (p.Glu430Asp) c.1188G>T (p.Glu396Asp) n.1332-421C>A c.1368G>T (p.Glu456Asp) c.1470G>T (p.Glu490Asp) c.1410G>T (p.Glu470Asp) n.3607-421C>A n.4043-421C>A c.1293G>T (p.Glu431Asp) c.1311G>T (p.Glu437Asp) c.1068G>T (p.Glu356Asp) c.1101G>T (p.Glu367Asp) c.1119G>T (p.Glu373Asp) | |
2 | g.127428686G>A | CA348405899 | PROC | c.1126G>A (p.Val376Ile) c.450G>A c.1228G>A (p.Val410Ile) c.1309G>A (p.Val437Ile) c.1291G>A (p.Val431Ile) c.1189G>A (p.Val397Ile) n.1332-422C>T c.1369G>A (p.Val457Ile) c.1471G>A (p.Val491Ile) c.1411G>A (p.Val471Ile) n.3607-422C>T n.4043-422C>T c.1294G>A (p.Val432Ile) c.1312G>A (p.Val438Ile) c.1069G>A (p.Val357Ile) c.1102G>A (p.Val368Ile) c.1120G>A (p.Val374Ile) | gnomAD v4 |
2 | g.127428686G>C | CA348405903 | PROC | c.1126G>C (p.Val376Leu) c.450G>C c.1228G>C (p.Val410Leu) c.1309G>C (p.Val437Leu) c.1291G>C (p.Val431Leu) c.1189G>C (p.Val397Leu) n.1332-422C>G c.1369G>C (p.Val457Leu) c.1471G>C (p.Val491Leu) c.1411G>C (p.Val471Leu) n.3607-422C>G n.4043-422C>G c.1294G>C (p.Val432Leu) c.1312G>C (p.Val438Leu) c.1069G>C (p.Val357Leu) c.1102G>C (p.Val368Leu) c.1120G>C (p.Val374Leu) | |
2 | g.127428686G>T | CA348405901 | PROC | c.1126G>T (p.Val376Phe) c.450G>T c.1228G>T (p.Val410Phe) c.1309G>T (p.Val437Phe) c.1291G>T (p.Val431Phe) c.1189G>T (p.Val397Phe) n.1332-422C>A c.1369G>T (p.Val457Phe) c.1471G>T (p.Val491Phe) c.1411G>T (p.Val471Phe) n.3607-422C>A n.4043-422C>A c.1294G>T (p.Val432Phe) c.1312G>T (p.Val438Phe) c.1069G>T (p.Val357Phe) c.1102G>T (p.Val368Phe) c.1120G>T (p.Val374Phe) | |
2 | g.127428687T>A | CA348405905 | PROC | c.1127T>A (p.Val376Asp) c.451T>A c.1229T>A (p.Val410Asp) c.1310T>A (p.Val437Asp) c.1292T>A (p.Val431Asp) c.1190T>A (p.Val397Asp) n.1332-423A>T c.1370T>A (p.Val457Asp) c.1472T>A (p.Val491Asp) c.1412T>A (p.Val471Asp) n.3607-423A>T n.4043-423A>T c.1295T>A (p.Val432Asp) c.1313T>A (p.Val438Asp) c.1070T>A (p.Val357Asp) c.1103T>A (p.Val368Asp) c.1121T>A (p.Val374Asp) | |
2 | g.127428687T>C | CA348405906 | PROC | c.1127T>C (p.Val376Ala) c.451T>C c.1229T>C (p.Val410Ala) c.1310T>C (p.Val437Ala) c.1292T>C (p.Val431Ala) c.1190T>C (p.Val397Ala) n.1332-423A>G c.1370T>C (p.Val457Ala) c.1472T>C (p.Val491Ala) c.1412T>C (p.Val471Ala) n.3607-423A>G n.4043-423A>G c.1295T>C (p.Val432Ala) c.1313T>C (p.Val438Ala) c.1070T>C (p.Val357Ala) c.1103T>C (p.Val368Ala) c.1121T>C (p.Val374Ala) | |
2 | g.127428687T>G | CA348405908 | PROC | c.1127T>G (p.Val376Gly) c.451T>G c.1229T>G (p.Val410Gly) c.1310T>G (p.Val437Gly) c.1292T>G (p.Val431Gly) c.1190T>G (p.Val397Gly) n.1332-423A>C c.1370T>G (p.Val457Gly) c.1472T>G (p.Val491Gly) c.1412T>G (p.Val471Gly) n.3607-423A>C n.4043-423A>C c.1295T>G (p.Val432Gly) c.1313T>G (p.Val438Gly) c.1070T>G (p.Val357Gly) c.1103T>G (p.Val368Gly) c.1121T>G (p.Val374Gly) | |
2 | g.127428688C>A | CA428873196 | PROC | c.1128C>A (p.Val376=) c.452C>A c.1230C>A (p.Val410=) c.1311C>A (p.Val437=) c.1293C>A (p.Val431=) c.1191C>A (p.Val397=) n.1332-424G>T c.1371C>A (p.Val457=) c.1473C>A (p.Val491=) c.1413C>A (p.Val471=) n.3607-424G>T n.4043-424G>T c.1296C>A (p.Val432=) c.1314C>A (p.Val438=) c.1071C>A (p.Val357=) c.1104C>A (p.Val368=) c.1122C>A (p.Val374=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428688C= | CA1286884589 | PROC | c.1128C= (p.Val376=) c.452C= c.1230C= (p.Val410=) c.1311C= (p.Val437=) c.1293C= (p.Val431=) c.1191C= (p.Val397=) n.1332-424G= c.1371C= (p.Val457=) c.1473C= (p.Val491=) c.1413C= (p.Val471=) n.3607-424G= n.4043-424G= c.1296C= (p.Val432=) c.1314C= (p.Val438=) c.1071C= (p.Val357=) c.1104C= (p.Val368=) c.1122C= (p.Val374=) | |
2 | g.127428688C>G | CA428873198 | PROC | c.1128C>G (p.Val376=) c.452C>G c.1230C>G (p.Val410=) c.1311C>G (p.Val437=) c.1293C>G (p.Val431=) c.1191C>G (p.Val397=) n.1332-424G>C c.1371C>G (p.Val457=) c.1473C>G (p.Val491=) c.1413C>G (p.Val471=) n.3607-424G>C n.4043-424G>C c.1296C>G (p.Val432=) c.1314C>G (p.Val438=) c.1071C>G (p.Val357=) c.1104C>G (p.Val368=) c.1122C>G (p.Val374=) | |
2 | g.127428688C>T | CA428873200 | PROC | c.1128C>T (p.Val376=) c.452C>T c.1230C>T (p.Val410=) c.1311C>T (p.Val437=) c.1293C>T (p.Val431=) c.1191C>T (p.Val397=) n.1332-424G>A c.1371C>T (p.Val457=) c.1473C>T (p.Val491=) c.1413C>T (p.Val471=) n.3607-424G>A n.4043-424G>A c.1296C>T (p.Val432=) c.1314C>T (p.Val438=) c.1071C>T (p.Val357=) c.1104C>T (p.Val368=) c.1122C>T (p.Val374=) | |
2 | g.127428689A= | CA1286884591 | PROC | c.1129A= (p.Met377=) c.453A= c.1231A= (p.Met411=) c.1312A= (p.Met438=) c.1294A= (p.Met432=) c.1192A= (p.Met398=) n.1332-425T= c.1372A= (p.Met458=) c.1474A= (p.Met492=) c.1414A= (p.Met472=) n.3607-425T= n.4043-425T= c.1297A= (p.Met433=) c.1315A= (p.Met439=) c.1072A= (p.Met358=) c.1105A= (p.Met369=) c.1123A= (p.Met375=) | |
2 | g.127428689A>C | CA348405910 | PROC | c.1129A>C (p.Met377Leu) c.453A>C c.1231A>C (p.Met411Leu) c.1312A>C (p.Met438Leu) c.1294A>C (p.Met432Leu) c.1192A>C (p.Met398Leu) n.1332-425T>G c.1372A>C (p.Met458Leu) c.1474A>C (p.Met492Leu) c.1414A>C (p.Met472Leu) n.3607-425T>G n.4043-425T>G c.1297A>C (p.Met433Leu) c.1315A>C (p.Met439Leu) c.1072A>C (p.Met358Leu) c.1105A>C (p.Met369Leu) c.1123A>C (p.Met375Leu) | |
2 | g.127428689A>G | CA348405912 | PROC | c.1129A>G (p.Met377Val) c.453A>G c.1231A>G (p.Met411Val) c.1312A>G (p.Met438Val) c.1294A>G (p.Met432Val) c.1192A>G (p.Met398Val) n.1332-425T>C c.1372A>G (p.Met458Val) c.1474A>G (p.Met492Val) c.1414A>G (p.Met472Val) n.3607-425T>C n.4043-425T>C c.1297A>G (p.Met433Val) c.1315A>G (p.Met439Val) c.1072A>G (p.Met358Val) c.1105A>G (p.Met369Val) c.1123A>G (p.Met375Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428689A>T | CA348405913 | PROC | c.1129A>T (p.Met377Leu) c.453A>T c.1231A>T (p.Met411Leu) c.1312A>T (p.Met438Leu) c.1294A>T (p.Met432Leu) c.1192A>T (p.Met398Leu) n.1332-425T>A c.1372A>T (p.Met458Leu) c.1474A>T (p.Met492Leu) c.1414A>T (p.Met472Leu) n.3607-425T>A n.4043-425T>A c.1297A>T (p.Met433Leu) c.1315A>T (p.Met439Leu) c.1072A>T (p.Met358Leu) c.1105A>T (p.Met369Leu) c.1123A>T (p.Met375Leu) | |
2 | g.127428689_127428705delinsATGAGCAACATGGTGTC | CA1286884590 | PROC | c.1129_1145delinsATGAGCAACATGGTGTC (p.Met377=) c.453_469delinsATGAGCAACATGGTGTC c.1231_1247delinsATGAGCAACATGGTGTC (p.Met411=) c.1312_1328delinsATGAGCAACATGGTGTC (p.Met438=) c.1294_1310delinsATGAGCAACATGGTGTC (p.Met432=) c.1192_1208delinsATGAGCAACATGGTGTC (p.Met398=) n.1332-441_1332-425delinsGACACCATGTTGCTCAT c.1372_1388delinsATGAGCAACATGGTGTC (p.Met458=) c.1474_1490delinsATGAGCAACATGGTGTC (p.Met492=) c.1414_1430delinsATGAGCAACATGGTGTC (p.Met472=) n.3607-441_3607-425delinsGACACCATGTTGCTCAT n.4043-441_4043-425delinsGACACCATGTTGCTCAT c.1297_1313delinsATGAGCAACATGGTGTC (p.Met433=) c.1315_1331delinsATGAGCAACATGGTGTC (p.Met439=) c.1072_1088delinsATGAGCAACATGGTGTC (p.Met358=) c.1105_1121delinsATGAGCAACATGGTGTC (p.Met369=) c.1123_1139delinsATGAGCAACATGGTGTC (p.Met375=) | |
2 | g.127428690T>A | CA348405916 | PROC | c.1130T>A (p.Met377Lys) c.454T>A c.1232T>A (p.Met411Lys) c.1313T>A (p.Met438Lys) c.1295T>A (p.Met432Lys) c.1193T>A (p.Met398Lys) n.1332-426A>T c.1373T>A (p.Met458Lys) c.1475T>A (p.Met492Lys) c.1415T>A (p.Met472Lys) n.3607-426A>T n.4043-426A>T c.1298T>A (p.Met433Lys) c.1316T>A (p.Met439Lys) c.1073T>A (p.Met358Lys) c.1106T>A (p.Met369Lys) c.1124T>A (p.Met375Lys) | |
2 | g.127428690T>C | CA348405917 | PROC | c.1130T>C (p.Met377Thr) c.454T>C c.1232T>C (p.Met411Thr) c.1313T>C (p.Met438Thr) c.1295T>C (p.Met432Thr) c.1193T>C (p.Met398Thr) n.1332-426A>G c.1373T>C (p.Met458Thr) c.1475T>C (p.Met492Thr) c.1415T>C (p.Met472Thr) n.3607-426A>G n.4043-426A>G c.1298T>C (p.Met433Thr) c.1316T>C (p.Met439Thr) c.1073T>C (p.Met358Thr) c.1106T>C (p.Met369Thr) c.1124T>C (p.Met375Thr) | |
2 | g.127428690T>G | CA348405918 | PROC | c.1130T>G (p.Met377Arg) c.454T>G c.1232T>G (p.Met411Arg) c.1313T>G (p.Met438Arg) c.1295T>G (p.Met432Arg) c.1193T>G (p.Met398Arg) n.1332-426A>C c.1373T>G (p.Met458Arg) c.1475T>G (p.Met492Arg) c.1415T>G (p.Met472Arg) n.3607-426A>C n.4043-426A>C c.1298T>G (p.Met433Arg) c.1316T>G (p.Met439Arg) c.1073T>G (p.Met358Arg) c.1106T>G (p.Met369Arg) c.1124T>G (p.Met375Arg) | gnomAD v4 |
2 | g.127428694_127428709del | CA348405920 | PROC | c.1134_1149del (p.Ser378ArgfsTer?) c.458_473del c.1236_1251del (p.Ser412ArgfsTer?) c.1317_1332del (p.Ser439ArgfsTer?) c.1299_1314del (p.Ser433ArgfsTer?) c.1197_1212del (p.Ser399ArgfsTer?) n.1332-441_1332-426del c.1377_1392del (p.Ser459ArgfsTer?) c.1479_1494del (p.Ser493ArgfsTer?) c.1419_1434del (p.Ser473ArgfsTer?) n.3607-441_3607-426del n.4043-441_4043-426del c.1302_1317del (p.Ser434ArgfsTer?) c.1320_1335del (p.Ser440ArgfsTer?) c.1077_1092del (p.Ser359ArgfsTer?) c.1110_1125del (p.Ser370ArgfsTer?) c.1128_1143del (p.Ser376ArgfsTer?) | dbSNP |
2 | g.127428691G>A | CA1859532 | PROC | c.1131G>A (p.Met377Ile) c.455G>A c.1233G>A (p.Met411Ile) c.1314G>A (p.Met438Ile) c.1296G>A (p.Met432Ile) c.1194G>A (p.Met398Ile) n.1332-427C>T c.1374G>A (p.Met458Ile) c.1476G>A (p.Met492Ile) c.1416G>A (p.Met472Ile) n.3607-427C>T n.4043-427C>T c.1299G>A (p.Met433Ile) c.1317G>A (p.Met439Ile) c.1074G>A (p.Met358Ile) c.1107G>A (p.Met369Ile) c.1125G>A (p.Met375Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428691G>C | CA348405923 | PROC | c.1131G>C (p.Met377Ile) c.455G>C c.1233G>C (p.Met411Ile) c.1314G>C (p.Met438Ile) c.1296G>C (p.Met432Ile) c.1194G>C (p.Met398Ile) n.1332-427C>G c.1374G>C (p.Met458Ile) c.1476G>C (p.Met492Ile) c.1416G>C (p.Met472Ile) n.3607-427C>G n.4043-427C>G c.1299G>C (p.Met433Ile) c.1317G>C (p.Met439Ile) c.1074G>C (p.Met358Ile) c.1107G>C (p.Met369Ile) c.1125G>C (p.Met375Ile) | dbSNP gnomAD v4 |
2 | g.127428691G= | CA1286884592 | PROC | c.1131G= (p.Met377=) c.455G= c.1233G= (p.Met411=) c.1314G= (p.Met438=) c.1296G= (p.Met432=) c.1194G= (p.Met398=) n.1332-427C= c.1374G= (p.Met458=) c.1476G= (p.Met492=) c.1416G= (p.Met472=) n.3607-427C= n.4043-427C= c.1299G= (p.Met433=) c.1317G= (p.Met439=) c.1074G= (p.Met358=) c.1107G= (p.Met369=) c.1125G= (p.Met375=) | |
2 | g.127428691G>T | CA348405924 | PROC | c.1131G>T (p.Met377Ile) c.455G>T c.1233G>T (p.Met411Ile) c.1314G>T (p.Met438Ile) c.1296G>T (p.Met432Ile) c.1194G>T (p.Met398Ile) n.1332-427C>A c.1374G>T (p.Met458Ile) c.1476G>T (p.Met492Ile) c.1416G>T (p.Met472Ile) n.3607-427C>A n.4043-427C>A c.1299G>T (p.Met433Ile) c.1317G>T (p.Met439Ile) c.1074G>T (p.Met358Ile) c.1107G>T (p.Met369Ile) c.1125G>T (p.Met375Ile) | |
2 | g.127428692A= | CA1286884593 | PROC | c.1132A= (p.Ser378=) c.456A= c.1234A= (p.Ser412=) c.1315A= (p.Ser439=) c.1297A= (p.Ser433=) c.1195A= (p.Ser399=) n.1332-428T= c.1375A= (p.Ser459=) c.1477A= (p.Ser493=) c.1417A= (p.Ser473=) n.3607-428T= n.4043-428T= c.1300A= (p.Ser434=) c.1318A= (p.Ser440=) c.1075A= (p.Ser359=) c.1108A= (p.Ser370=) c.1126A= (p.Ser376=) | |
2 | g.127428692A>C | CA348405928 | PROC | c.1132A>C (p.Ser378Arg) c.456A>C c.1234A>C (p.Ser412Arg) c.1315A>C (p.Ser439Arg) c.1297A>C (p.Ser433Arg) c.1195A>C (p.Ser399Arg) n.1332-428T>G c.1375A>C (p.Ser459Arg) c.1477A>C (p.Ser493Arg) c.1417A>C (p.Ser473Arg) n.3607-428T>G n.4043-428T>G c.1300A>C (p.Ser434Arg) c.1318A>C (p.Ser440Arg) c.1075A>C (p.Ser359Arg) c.1108A>C (p.Ser370Arg) c.1126A>C (p.Ser376Arg) | |
2 | g.127428692A>G | CA348405930 | PROC | c.1132A>G (p.Ser378Gly) c.456A>G c.1234A>G (p.Ser412Gly) c.1315A>G (p.Ser439Gly) c.1297A>G (p.Ser433Gly) c.1195A>G (p.Ser399Gly) n.1332-428T>C c.1375A>G (p.Ser459Gly) c.1477A>G (p.Ser493Gly) c.1417A>G (p.Ser473Gly) n.3607-428T>C n.4043-428T>C c.1300A>G (p.Ser434Gly) c.1318A>G (p.Ser440Gly) c.1075A>G (p.Ser359Gly) c.1108A>G (p.Ser370Gly) c.1126A>G (p.Ser376Gly) | dbSNP |
2 | g.127428692A>T | CA348405926 | PROC | c.1132A>T (p.Ser378Cys) c.456A>T c.1234A>T (p.Ser412Cys) c.1315A>T (p.Ser439Cys) c.1297A>T (p.Ser433Cys) c.1195A>T (p.Ser399Cys) n.1332-428T>A c.1375A>T (p.Ser459Cys) c.1477A>T (p.Ser493Cys) c.1417A>T (p.Ser473Cys) n.3607-428T>A n.4043-428T>A c.1300A>T (p.Ser434Cys) c.1318A>T (p.Ser440Cys) c.1075A>T (p.Ser359Cys) c.1108A>T (p.Ser370Cys) c.1126A>T (p.Ser376Cys) | |
2 | g.127428693G>A | CA348405933 | PROC | c.1133G>A (p.Ser378Asn) c.457G>A c.1235G>A (p.Ser412Asn) c.1316G>A (p.Ser439Asn) c.1298G>A (p.Ser433Asn) c.1196G>A (p.Ser399Asn) n.1332-429C>T c.1376G>A (p.Ser459Asn) c.1478G>A (p.Ser493Asn) c.1418G>A (p.Ser473Asn) n.3607-429C>T n.4043-429C>T c.1301G>A (p.Ser434Asn) c.1319G>A (p.Ser440Asn) c.1076G>A (p.Ser359Asn) c.1109G>A (p.Ser370Asn) c.1127G>A (p.Ser376Asn) | |
2 | g.127428693G>C | CA348405934 | PROC | c.1133G>C (p.Ser378Thr) c.457G>C c.1235G>C (p.Ser412Thr) c.1316G>C (p.Ser439Thr) c.1298G>C (p.Ser433Thr) c.1196G>C (p.Ser399Thr) n.1332-429C>G c.1376G>C (p.Ser459Thr) c.1478G>C (p.Ser493Thr) c.1418G>C (p.Ser473Thr) n.3607-429C>G n.4043-429C>G c.1301G>C (p.Ser434Thr) c.1319G>C (p.Ser440Thr) c.1076G>C (p.Ser359Thr) c.1109G>C (p.Ser370Thr) c.1127G>C (p.Ser376Thr) | |
2 | g.127428693G>T | CA348405936 | PROC | c.1133G>T (p.Ser378Ile) c.457G>T c.1235G>T (p.Ser412Ile) c.1316G>T (p.Ser439Ile) c.1298G>T (p.Ser433Ile) c.1196G>T (p.Ser399Ile) n.1332-429C>A c.1376G>T (p.Ser459Ile) c.1478G>T (p.Ser493Ile) c.1418G>T (p.Ser473Ile) n.3607-429C>A n.4043-429C>A c.1301G>T (p.Ser434Ile) c.1319G>T (p.Ser440Ile) c.1076G>T (p.Ser359Ile) c.1109G>T (p.Ser370Ile) c.1127G>T (p.Ser376Ile) | |
2 | g.127428693dup | CA645516638 | PROC | c.1133dup (p.Ser378ArgfsTer6) c.457dup c.1235dup (p.Ser412ArgfsTer6) c.1316dup (p.Ser439ArgfsTer6) c.1298dup (p.Ser433ArgfsTer6) c.1196dup (p.Ser399ArgfsTer6) n.1332-429dup c.1376dup (p.Ser459ArgfsTer6) c.1478dup (p.Ser493ArgfsTer6) c.1418dup (p.Ser473ArgfsTer6) n.3607-429dup n.4043-429dup c.1301dup (p.Ser434ArgfsTer6) c.1319dup (p.Ser440ArgfsTer6) c.1076dup (p.Ser359ArgfsTer6) c.1109dup (p.Ser370ArgfsTer6) c.1127dup (p.Ser376ArgfsTer6) | COSMIC COSMIC |
2 | g.127428694C>A | CA348405939 | PROC | c.1134C>A (p.Ser378Arg) c.458C>A c.1236C>A (p.Ser412Arg) c.1317C>A (p.Ser439Arg) c.1299C>A (p.Ser433Arg) c.1197C>A (p.Ser399Arg) n.1332-430G>T c.1377C>A (p.Ser459Arg) c.1479C>A (p.Ser493Arg) c.1419C>A (p.Ser473Arg) n.3607-430G>T n.4043-430G>T c.1302C>A (p.Ser434Arg) c.1320C>A (p.Ser440Arg) c.1077C>A (p.Ser359Arg) c.1110C>A (p.Ser370Arg) c.1128C>A (p.Ser376Arg) | |
2 | g.127428694C>G | CA348405940 | PROC | c.1134C>G (p.Ser378Arg) c.458C>G c.1236C>G (p.Ser412Arg) c.1317C>G (p.Ser439Arg) c.1299C>G (p.Ser433Arg) c.1197C>G (p.Ser399Arg) n.1332-430G>C c.1377C>G (p.Ser459Arg) c.1479C>G (p.Ser493Arg) c.1419C>G (p.Ser473Arg) n.3607-430G>C n.4043-430G>C c.1302C>G (p.Ser434Arg) c.1320C>G (p.Ser440Arg) c.1077C>G (p.Ser359Arg) c.1110C>G (p.Ser370Arg) c.1128C>G (p.Ser376Arg) | gnomAD v4 |
2 | g.127428694C>T | CA428873237 | PROC | c.1134C>T (p.Ser378=) c.458C>T c.1236C>T (p.Ser412=) c.1317C>T (p.Ser439=) c.1299C>T (p.Ser433=) c.1197C>T (p.Ser399=) n.1332-430G>A c.1377C>T (p.Ser459=) c.1479C>T (p.Ser493=) c.1419C>T (p.Ser473=) n.3607-430G>A n.4043-430G>A c.1302C>T (p.Ser434=) c.1320C>T (p.Ser440=) c.1077C>T (p.Ser359=) c.1110C>T (p.Ser370=) c.1128C>T (p.Ser376=) | |
2 | g.127428695A>C | CA348405942 | PROC | c.1135A>C (p.Asn379His) c.459A>C c.1237A>C (p.Asn413His) c.1318A>C (p.Asn440His) c.1300A>C (p.Asn434His) c.1198A>C (p.Asn400His) n.1332-431T>G c.1378A>C (p.Asn460His) c.1480A>C (p.Asn494His) c.1420A>C (p.Asn474His) n.3607-431T>G n.4043-431T>G c.1303A>C (p.Asn435His) c.1321A>C (p.Asn441His) c.1078A>C (p.Asn360His) c.1111A>C (p.Asn371His) c.1129A>C (p.Asn377His) | |
2 | g.127428695A>G | CA348405944 | PROC | c.1135A>G (p.Asn379Asp) c.459A>G c.1237A>G (p.Asn413Asp) c.1318A>G (p.Asn440Asp) c.1300A>G (p.Asn434Asp) c.1198A>G (p.Asn400Asp) n.1332-431T>C c.1378A>G (p.Asn460Asp) c.1480A>G (p.Asn494Asp) c.1420A>G (p.Asn474Asp) n.3607-431T>C n.4043-431T>C c.1303A>G (p.Asn435Asp) c.1321A>G (p.Asn441Asp) c.1078A>G (p.Asn360Asp) c.1111A>G (p.Asn371Asp) c.1129A>G (p.Asn377Asp) | |
2 | g.127428695A>T | CA348405946 | PROC | c.1135A>T (p.Asn379Tyr) c.459A>T c.1237A>T (p.Asn413Tyr) c.1318A>T (p.Asn440Tyr) c.1300A>T (p.Asn434Tyr) c.1198A>T (p.Asn400Tyr) n.1332-431T>A c.1378A>T (p.Asn460Tyr) c.1480A>T (p.Asn494Tyr) c.1420A>T (p.Asn474Tyr) n.3607-431T>A n.4043-431T>A c.1303A>T (p.Asn435Tyr) c.1321A>T (p.Asn441Tyr) c.1078A>T (p.Asn360Tyr) c.1111A>T (p.Asn371Tyr) c.1129A>T (p.Asn377Tyr) | |
2 | g.127428696A= | CA1286884594 | PROC | c.1136A= (p.Asn379=) c.460A= c.1238A= (p.Asn413=) c.1319A= (p.Asn440=) c.1301A= (p.Asn434=) c.1199A= (p.Asn400=) n.1332-432T= c.1379A= (p.Asn460=) c.1481A= (p.Asn494=) c.1421A= (p.Asn474=) n.3607-432T= n.4043-432T= c.1304A= (p.Asn435=) c.1322A= (p.Asn441=) c.1079A= (p.Asn360=) c.1112A= (p.Asn371=) c.1130A= (p.Asn377=) | |
2 | g.127428696A>C | CA348405948 | PROC | c.1136A>C (p.Asn379Thr) c.460A>C c.1238A>C (p.Asn413Thr) c.1319A>C (p.Asn440Thr) c.1301A>C (p.Asn434Thr) c.1199A>C (p.Asn400Thr) n.1332-432T>G c.1379A>C (p.Asn460Thr) c.1481A>C (p.Asn494Thr) c.1421A>C (p.Asn474Thr) n.3607-432T>G n.4043-432T>G c.1304A>C (p.Asn435Thr) c.1322A>C (p.Asn441Thr) c.1079A>C (p.Asn360Thr) c.1112A>C (p.Asn371Thr) c.1130A>C (p.Asn377Thr) | |
2 | g.127428696A>G | CA348405951 | PROC | c.1136A>G (p.Asn379Ser) c.460A>G c.1238A>G (p.Asn413Ser) c.1319A>G (p.Asn440Ser) c.1301A>G (p.Asn434Ser) c.1199A>G (p.Asn400Ser) n.1332-432T>C c.1379A>G (p.Asn460Ser) c.1481A>G (p.Asn494Ser) c.1421A>G (p.Asn474Ser) n.3607-432T>C n.4043-432T>C c.1304A>G (p.Asn435Ser) c.1322A>G (p.Asn441Ser) c.1079A>G (p.Asn360Ser) c.1112A>G (p.Asn371Ser) c.1130A>G (p.Asn377Ser) | |
2 | g.127428696A>T | CA348405949 | PROC | c.1136A>T (p.Asn379Ile) c.460A>T c.1238A>T (p.Asn413Ile) c.1319A>T (p.Asn440Ile) c.1301A>T (p.Asn434Ile) c.1199A>T (p.Asn400Ile) n.1332-432T>A c.1379A>T (p.Asn460Ile) c.1481A>T (p.Asn494Ile) c.1421A>T (p.Asn474Ile) n.3607-432T>A n.4043-432T>A c.1304A>T (p.Asn435Ile) c.1322A>T (p.Asn441Ile) c.1079A>T (p.Asn360Ile) c.1112A>T (p.Asn371Ile) c.1130A>T (p.Asn377Ile) | dbSNP gnomAD v2 |
2 | g.127428697C>A | CA348405952 | PROC | c.1137C>A (p.Asn379Lys) c.461C>A c.1239C>A (p.Asn413Lys) c.1320C>A (p.Asn440Lys) c.1302C>A (p.Asn434Lys) c.1200C>A (p.Asn400Lys) n.1332-433G>T c.1380C>A (p.Asn460Lys) c.1482C>A (p.Asn494Lys) c.1422C>A (p.Asn474Lys) n.3607-433G>T n.4043-433G>T c.1305C>A (p.Asn435Lys) c.1323C>A (p.Asn441Lys) c.1080C>A (p.Asn360Lys) c.1113C>A (p.Asn371Lys) c.1131C>A (p.Asn377Lys) | |
2 | g.127428697C>G | CA348405953 | PROC | c.1137C>G (p.Asn379Lys) c.461C>G c.1239C>G (p.Asn413Lys) c.1320C>G (p.Asn440Lys) c.1302C>G (p.Asn434Lys) c.1200C>G (p.Asn400Lys) n.1332-433G>C c.1380C>G (p.Asn460Lys) c.1482C>G (p.Asn494Lys) c.1422C>G (p.Asn474Lys) n.3607-433G>C n.4043-433G>C c.1305C>G (p.Asn435Lys) c.1323C>G (p.Asn441Lys) c.1080C>G (p.Asn360Lys) c.1113C>G (p.Asn371Lys) c.1131C>G (p.Asn377Lys) | |
2 | g.127428697C>T | CA428873255 | PROC | c.1137C>T (p.Asn379=) c.461C>T c.1239C>T (p.Asn413=) c.1320C>T (p.Asn440=) c.1302C>T (p.Asn434=) c.1200C>T (p.Asn400=) n.1332-433G>A c.1380C>T (p.Asn460=) c.1482C>T (p.Asn494=) c.1422C>T (p.Asn474=) n.3607-433G>A n.4043-433G>A c.1305C>T (p.Asn435=) c.1323C>T (p.Asn441=) c.1080C>T (p.Asn360=) c.1113C>T (p.Asn371=) c.1131C>T (p.Asn377=) | |
2 | g.127428697_127428702dup | CA2586969921 | PROC | c.1137_1142dup (p.Val381_Ser382insMetVal) c.461_466dup c.1239_1244dup (p.Val415_Ser416insMetVal) c.1320_1325dup (p.Val442_Ser443insMetVal) c.1302_1307dup (p.Val436_Ser437insMetVal) c.1200_1205dup (p.Val402_Ser403insMetVal) n.1332-438_1332-433dup c.1380_1385dup (p.Val462_Ser463insMetVal) c.1482_1487dup (p.Val496_Ser497insMetVal) c.1422_1427dup (p.Val476_Ser477insMetVal) n.3607-438_3607-433dup n.4043-438_4043-433dup c.1305_1310dup (p.Val437_Ser438insMetVal) c.1323_1328dup (p.Val443_Ser444insMetVal) c.1080_1085dup (p.Val362_Ser363insMetVal) c.1113_1118dup (p.Val373_Ser374insMetVal) c.1131_1136dup (p.Val379_Ser380insMetVal) | |
2 | g.127428698A>C | CA348405956 | PROC | c.1138A>C (p.Met380Leu) c.462A>C c.1240A>C (p.Met414Leu) c.1321A>C (p.Met441Leu) c.1303A>C (p.Met435Leu) c.1201A>C (p.Met401Leu) n.1332-434T>G c.1381A>C (p.Met461Leu) c.1483A>C (p.Met495Leu) c.1423A>C (p.Met475Leu) n.3607-434T>G n.4043-434T>G c.1306A>C (p.Met436Leu) c.1324A>C (p.Met442Leu) c.1081A>C (p.Met361Leu) c.1114A>C (p.Met372Leu) c.1132A>C (p.Met378Leu) | |
2 | g.127428698A>G | CA348405958 | PROC | c.1138A>G (p.Met380Val) c.462A>G c.1240A>G (p.Met414Val) c.1321A>G (p.Met441Val) c.1303A>G (p.Met435Val) c.1201A>G (p.Met401Val) n.1332-434T>C c.1381A>G (p.Met461Val) c.1483A>G (p.Met495Val) c.1423A>G (p.Met475Val) n.3607-434T>C n.4043-434T>C c.1306A>G (p.Met436Val) c.1324A>G (p.Met442Val) c.1081A>G (p.Met361Val) c.1114A>G (p.Met372Val) c.1132A>G (p.Met378Val) | gnomAD v4 COSMIC |
2 | g.127428698A>T | CA348405960 | PROC | c.1138A>T (p.Met380Leu) c.462A>T c.1240A>T (p.Met414Leu) c.1321A>T (p.Met441Leu) c.1303A>T (p.Met435Leu) c.1201A>T (p.Met401Leu) n.1332-434T>A c.1381A>T (p.Met461Leu) c.1483A>T (p.Met495Leu) c.1423A>T (p.Met475Leu) n.3607-434T>A n.4043-434T>A c.1306A>T (p.Met436Leu) c.1324A>T (p.Met442Leu) c.1081A>T (p.Met361Leu) c.1114A>T (p.Met372Leu) c.1132A>T (p.Met378Leu) | |
2 | g.127428699T>A | CA348405963 | PROC | c.1139T>A (p.Met380Lys) c.463T>A c.1241T>A (p.Met414Lys) c.1322T>A (p.Met441Lys) c.1304T>A (p.Met435Lys) c.1202T>A (p.Met401Lys) n.1332-435A>T c.1382T>A (p.Met461Lys) c.1484T>A (p.Met495Lys) c.1424T>A (p.Met475Lys) n.3607-435A>T n.4043-435A>T c.1307T>A (p.Met436Lys) c.1325T>A (p.Met442Lys) c.1082T>A (p.Met361Lys) c.1115T>A (p.Met372Lys) c.1133T>A (p.Met378Lys) | |
2 | g.127428699T>C | CA348405965 | PROC | c.1139T>C (p.Met380Thr) c.463T>C c.1241T>C (p.Met414Thr) c.1322T>C (p.Met441Thr) c.1304T>C (p.Met435Thr) c.1202T>C (p.Met401Thr) n.1332-435A>G c.1382T>C (p.Met461Thr) c.1484T>C (p.Met495Thr) c.1424T>C (p.Met475Thr) n.3607-435A>G n.4043-435A>G c.1307T>C (p.Met436Thr) c.1325T>C (p.Met442Thr) c.1082T>C (p.Met361Thr) c.1115T>C (p.Met372Thr) c.1133T>C (p.Met378Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428699T>G | CA348405964 | PROC | c.1139T>G (p.Met380Arg) c.463T>G c.1241T>G (p.Met414Arg) c.1322T>G (p.Met441Arg) c.1304T>G (p.Met435Arg) c.1202T>G (p.Met401Arg) n.1332-435A>C c.1382T>G (p.Met461Arg) c.1484T>G (p.Met495Arg) c.1424T>G (p.Met475Arg) n.3607-435A>C n.4043-435A>C c.1307T>G (p.Met436Arg) c.1325T>G (p.Met442Arg) c.1082T>G (p.Met361Arg) c.1115T>G (p.Met372Arg) c.1133T>G (p.Met378Arg) | |
2 | g.127428699T= | CA1286884595 | PROC | c.1139T= (p.Met380=) c.463T= c.1241T= (p.Met414=) c.1322T= (p.Met441=) c.1304T= (p.Met435=) c.1202T= (p.Met401=) n.1332-435A= c.1382T= (p.Met461=) c.1484T= (p.Met495=) c.1424T= (p.Met475=) n.3607-435A= n.4043-435A= c.1307T= (p.Met436=) c.1325T= (p.Met442=) c.1082T= (p.Met361=) c.1115T= (p.Met372=) c.1133T= (p.Met378=) | |
2 | g.127428700G>A | CA348405966 | PROC | c.1140G>A (p.Met380Ile) c.464G>A c.1242G>A (p.Met414Ile) c.1323G>A (p.Met441Ile) c.1305G>A (p.Met435Ile) c.1203G>A (p.Met401Ile) n.1332-436C>T c.1383G>A (p.Met461Ile) c.1485G>A (p.Met495Ile) c.1425G>A (p.Met475Ile) n.3607-436C>T n.4043-436C>T c.1308G>A (p.Met436Ile) c.1326G>A (p.Met442Ile) c.1083G>A (p.Met361Ile) c.1116G>A (p.Met372Ile) c.1134G>A (p.Met378Ile) | dbSNP |
2 | g.127428700G>C | CA348405968 | PROC | c.1140G>C (p.Met380Ile) c.464G>C c.1242G>C (p.Met414Ile) c.1323G>C (p.Met441Ile) c.1305G>C (p.Met435Ile) c.1203G>C (p.Met401Ile) n.1332-436C>G c.1383G>C (p.Met461Ile) c.1485G>C (p.Met495Ile) c.1425G>C (p.Met475Ile) n.3607-436C>G n.4043-436C>G c.1308G>C (p.Met436Ile) c.1326G>C (p.Met442Ile) c.1083G>C (p.Met361Ile) c.1116G>C (p.Met372Ile) c.1134G>C (p.Met378Ile) | |
2 | g.127428700G= | CA1286884596 | PROC | c.1140G= (p.Met380=) c.464G= c.1242G= (p.Met414=) c.1323G= (p.Met441=) c.1305G= (p.Met435=) c.1203G= (p.Met401=) n.1332-436C= c.1383G= (p.Met461=) c.1485G= (p.Met495=) c.1425G= (p.Met475=) n.3607-436C= n.4043-436C= c.1308G= (p.Met436=) c.1326G= (p.Met442=) c.1083G= (p.Met361=) c.1116G= (p.Met372=) c.1134G= (p.Met378=) | |
2 | g.127428700G>T | CA348405969 | PROC | c.1140G>T (p.Met380Ile) c.464G>T c.1242G>T (p.Met414Ile) c.1323G>T (p.Met441Ile) c.1305G>T (p.Met435Ile) c.1203G>T (p.Met401Ile) n.1332-436C>A c.1383G>T (p.Met461Ile) c.1485G>T (p.Met495Ile) c.1425G>T (p.Met475Ile) n.3607-436C>A n.4043-436C>A c.1308G>T (p.Met436Ile) c.1326G>T (p.Met442Ile) c.1083G>T (p.Met361Ile) c.1116G>T (p.Met372Ile) c.1134G>T (p.Met378Ile) | |
2 | g.127428701G>A | CA348405971 | PROC | c.1141G>A (p.Val381Met) c.465G>A c.1243G>A (p.Val415Met) c.1324G>A (p.Val442Met) c.1306G>A (p.Val436Met) c.1204G>A (p.Val402Met) n.1332-437C>T c.1384G>A (p.Val462Met) c.1486G>A (p.Val496Met) c.1426G>A (p.Val476Met) n.3607-437C>T n.4043-437C>T c.1309G>A (p.Val437Met) c.1327G>A (p.Val443Met) c.1084G>A (p.Val362Met) c.1117G>A (p.Val373Met) c.1135G>A (p.Val379Met) | |
2 | g.127428701G>C | CA348405973 | PROC | c.1141G>C (p.Val381Leu) c.465G>C c.1243G>C (p.Val415Leu) c.1324G>C (p.Val442Leu) c.1306G>C (p.Val436Leu) c.1204G>C (p.Val402Leu) n.1332-437C>G c.1384G>C (p.Val462Leu) c.1486G>C (p.Val496Leu) c.1426G>C (p.Val476Leu) n.3607-437C>G n.4043-437C>G c.1309G>C (p.Val437Leu) c.1327G>C (p.Val443Leu) c.1084G>C (p.Val362Leu) c.1117G>C (p.Val373Leu) c.1135G>C (p.Val379Leu) | |
2 | g.127428701G>T | CA348405975 | PROC | c.1141G>T (p.Val381Leu) c.465G>T c.1243G>T (p.Val415Leu) c.1324G>T (p.Val442Leu) c.1306G>T (p.Val436Leu) c.1204G>T (p.Val402Leu) n.1332-437C>A c.1384G>T (p.Val462Leu) c.1486G>T (p.Val496Leu) c.1426G>T (p.Val476Leu) n.3607-437C>A n.4043-437C>A c.1309G>T (p.Val437Leu) c.1327G>T (p.Val443Leu) c.1084G>T (p.Val362Leu) c.1117G>T (p.Val373Leu) c.1135G>T (p.Val379Leu) |