| 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.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) | 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 |