| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428560G>A | CA114406 | PROC | c.1000G>A (p.Gly334Ser) c.324G>A c.1102G>A (p.Gly368Ser) c.1183G>A (p.Gly395Ser) c.1165G>A (p.Gly389Ser) c.1063G>A (p.Gly355Ser) n.1332-296C>T c.1243G>A (p.Gly415Ser) c.1345G>A (p.Gly449Ser) c.1285G>A (p.Gly429Ser) n.3607-296C>T n.4043-296C>T c.1168G>A (p.Gly390Ser) c.1186G>A (p.Gly396Ser) c.943G>A (p.Gly315Ser) c.976G>A (p.Gly326Ser) c.994G>A (p.Gly332Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428560G>C | CA348405332 | PROC | c.1000G>C (p.Gly334Arg) c.324G>C c.1102G>C (p.Gly368Arg) c.1183G>C (p.Gly395Arg) c.1165G>C (p.Gly389Arg) c.1063G>C (p.Gly355Arg) n.1332-296C>G c.1243G>C (p.Gly415Arg) c.1345G>C (p.Gly449Arg) c.1285G>C (p.Gly429Arg) n.3607-296C>G n.4043-296C>G c.1168G>C (p.Gly390Arg) c.1186G>C (p.Gly396Arg) c.943G>C (p.Gly315Arg) c.976G>C (p.Gly326Arg) c.994G>C (p.Gly332Arg) | dbSNP |
| 2 | g.127428560G= | CA1286884527 | PROC | c.1000G= (p.Gly334=) c.324G= c.1102G= (p.Gly368=) c.1183G= (p.Gly395=) c.1165G= (p.Gly389=) c.1063G= (p.Gly355=) n.1332-296C= c.1243G= (p.Gly415=) c.1345G= (p.Gly449=) c.1285G= (p.Gly429=) n.3607-296C= n.4043-296C= c.1168G= (p.Gly390=) c.1186G= (p.Gly396=) c.943G= (p.Gly315=) c.976G= (p.Gly326=) c.994G= (p.Gly332=) | |
| 2 | g.127428560G>T | CA348405334 | PROC | c.1000G>T (p.Gly334Cys) c.324G>T c.1102G>T (p.Gly368Cys) c.1183G>T (p.Gly395Cys) c.1165G>T (p.Gly389Cys) c.1063G>T (p.Gly355Cys) n.1332-296C>A c.1243G>T (p.Gly415Cys) c.1345G>T (p.Gly449Cys) c.1285G>T (p.Gly429Cys) n.3607-296C>A n.4043-296C>A c.1168G>T (p.Gly390Cys) c.1186G>T (p.Gly396Cys) c.943G>T (p.Gly315Cys) c.976G>T (p.Gly326Cys) c.994G>T (p.Gly332Cys) | ClinVar dbSNP gnomAD v2 |
| 2 | g.127428561G>A | CA348405344 | PROC | c.1001G>A (p.Gly334Asp) c.325G>A c.1103G>A (p.Gly368Asp) c.1184G>A (p.Gly395Asp) c.1166G>A (p.Gly389Asp) c.1064G>A (p.Gly355Asp) n.1332-297C>T c.1244G>A (p.Gly415Asp) c.1346G>A (p.Gly449Asp) c.1286G>A (p.Gly429Asp) n.3607-297C>T n.4043-297C>T c.1169G>A (p.Gly390Asp) c.1187G>A (p.Gly396Asp) c.944G>A (p.Gly315Asp) c.977G>A (p.Gly326Asp) c.995G>A (p.Gly332Asp) | |
| 2 | g.127428561G>C | CA348405351 | PROC | c.1001G>C (p.Gly334Ala) c.325G>C c.1103G>C (p.Gly368Ala) c.1184G>C (p.Gly395Ala) c.1166G>C (p.Gly389Ala) c.1064G>C (p.Gly355Ala) n.1332-297C>G c.1244G>C (p.Gly415Ala) c.1346G>C (p.Gly449Ala) c.1286G>C (p.Gly429Ala) n.3607-297C>G n.4043-297C>G c.1169G>C (p.Gly390Ala) c.1187G>C (p.Gly396Ala) c.944G>C (p.Gly315Ala) c.977G>C (p.Gly326Ala) c.995G>C (p.Gly332Ala) | |
| 2 | g.127428561G>T | CA348405352 | PROC | c.1001G>T (p.Gly334Val) c.325G>T c.1103G>T (p.Gly368Val) c.1184G>T (p.Gly395Val) c.1166G>T (p.Gly389Val) c.1064G>T (p.Gly355Val) n.1332-297C>A c.1244G>T (p.Gly415Val) c.1346G>T (p.Gly449Val) c.1286G>T (p.Gly429Val) n.3607-297C>A n.4043-297C>A c.1169G>T (p.Gly390Val) c.1187G>T (p.Gly396Val) c.944G>T (p.Gly315Val) c.977G>T (p.Gly326Val) c.995G>T (p.Gly332Val) | |
| 2 | g.127428562C>A | CA428871861 | PROC | c.1002C>A (p.Gly334=) c.326C>A c.1104C>A (p.Gly368=) c.1185C>A (p.Gly395=) c.1167C>A (p.Gly389=) c.1065C>A (p.Gly355=) n.1332-298G>T c.1245C>A (p.Gly415=) c.1347C>A (p.Gly449=) c.1287C>A (p.Gly429=) n.3607-298G>T n.4043-298G>T c.1170C>A (p.Gly390=) c.1188C>A (p.Gly396=) c.945C>A (p.Gly315=) c.978C>A (p.Gly326=) c.996C>A (p.Gly332=) | gnomAD v4 COSMIC COSMIC |
| 2 | g.127428562C>G | CA428871863 | PROC | c.1002C>G (p.Gly334=) c.326C>G c.1104C>G (p.Gly368=) c.1185C>G (p.Gly395=) c.1167C>G (p.Gly389=) c.1065C>G (p.Gly355=) n.1332-298G>C c.1245C>G (p.Gly415=) c.1347C>G (p.Gly449=) c.1287C>G (p.Gly429=) n.3607-298G>C n.4043-298G>C c.1170C>G (p.Gly390=) c.1188C>G (p.Gly396=) c.945C>G (p.Gly315=) c.978C>G (p.Gly326=) c.996C>G (p.Gly332=) | gnomAD v4 |
| 2 | g.127428562C>T | CA428871866 | PROC | c.1002C>T (p.Gly334=) c.326C>T c.1104C>T (p.Gly368=) c.1185C>T (p.Gly395=) c.1167C>T (p.Gly389=) c.1065C>T (p.Gly355=) n.1332-298G>A c.1245C>T (p.Gly415=) c.1347C>T (p.Gly449=) c.1287C>T (p.Gly429=) n.3607-298G>A n.4043-298G>A c.1170C>T (p.Gly390=) c.1188C>T (p.Gly396=) c.945C>T (p.Gly315=) c.978C>T (p.Gly326=) c.996C>T (p.Gly332=) | |
| 2 | g.127428563C>A | CA348405359 | PROC | c.1003C>A (p.Gln335Lys) c.327C>A c.1105C>A (p.Gln369Lys) c.1186C>A (p.Gln396Lys) c.1168C>A (p.Gln390Lys) c.1066C>A (p.Gln356Lys) n.1332-299G>T c.1246C>A (p.Gln416Lys) c.1348C>A (p.Gln450Lys) c.1288C>A (p.Gln430Lys) n.3607-299G>T n.4043-299G>T c.1171C>A (p.Gln391Lys) c.1189C>A (p.Gln397Lys) c.946C>A (p.Gln316Lys) c.979C>A (p.Gln327Lys) c.997C>A (p.Gln333Lys) | |
| 2 | g.127428563C>G | CA348405361 | PROC | c.1003C>G (p.Gln335Glu) c.327C>G c.1105C>G (p.Gln369Glu) c.1186C>G (p.Gln396Glu) c.1168C>G (p.Gln390Glu) c.1066C>G (p.Gln356Glu) n.1332-299G>C c.1246C>G (p.Gln416Glu) c.1348C>G (p.Gln450Glu) c.1288C>G (p.Gln430Glu) n.3607-299G>C n.4043-299G>C c.1171C>G (p.Gln391Glu) c.1189C>G (p.Gln397Glu) c.946C>G (p.Gln316Glu) c.979C>G (p.Gln327Glu) c.997C>G (p.Gln333Glu) | |
| 2 | g.127428563C>T | CA348405356 | PROC | c.1003C>T (p.Gln335Ter) c.327C>T c.1105C>T (p.Gln369Ter) c.1186C>T (p.Gln396Ter) c.1168C>T (p.Gln390Ter) c.1066C>T (p.Gln356Ter) n.1332-299G>A c.1246C>T (p.Gln416Ter) c.1348C>T (p.Gln450Ter) c.1288C>T (p.Gln430Ter) n.3607-299G>A n.4043-299G>A c.1171C>T (p.Gln391Ter) c.1189C>T (p.Gln397Ter) c.946C>T (p.Gln316Ter) c.979C>T (p.Gln327Ter) c.997C>T (p.Gln333Ter) | |
| 2 | g.127428564A>C | CA348405365 | PROC | c.1004A>C (p.Gln335Pro) c.328A>C c.1106A>C (p.Gln369Pro) c.1187A>C (p.Gln396Pro) c.1169A>C (p.Gln390Pro) c.1067A>C (p.Gln356Pro) n.1332-300T>G c.1247A>C (p.Gln416Pro) c.1349A>C (p.Gln450Pro) c.1289A>C (p.Gln430Pro) n.3607-300T>G n.4043-300T>G c.1172A>C (p.Gln391Pro) c.1190A>C (p.Gln397Pro) c.947A>C (p.Gln316Pro) c.980A>C (p.Gln327Pro) c.998A>C (p.Gln333Pro) | |
| 2 | g.127428564A>G | CA348405368 | PROC | c.1004A>G (p.Gln335Arg) c.328A>G c.1106A>G (p.Gln369Arg) c.1187A>G (p.Gln396Arg) c.1169A>G (p.Gln390Arg) c.1067A>G (p.Gln356Arg) n.1332-300T>C c.1247A>G (p.Gln416Arg) c.1349A>G (p.Gln450Arg) c.1289A>G (p.Gln430Arg) n.3607-300T>C n.4043-300T>C c.1172A>G (p.Gln391Arg) c.1190A>G (p.Gln397Arg) c.947A>G (p.Gln316Arg) c.980A>G (p.Gln327Arg) c.998A>G (p.Gln333Arg) | |
| 2 | g.127428564A>T | CA348405369 | PROC | c.1004A>T (p.Gln335Leu) c.328A>T c.1106A>T (p.Gln369Leu) c.1187A>T (p.Gln396Leu) c.1169A>T (p.Gln390Leu) c.1067A>T (p.Gln356Leu) n.1332-300T>A c.1247A>T (p.Gln416Leu) c.1349A>T (p.Gln450Leu) c.1289A>T (p.Gln430Leu) n.3607-300T>A n.4043-300T>A c.1172A>T (p.Gln391Leu) c.1190A>T (p.Gln397Leu) c.947A>T (p.Gln316Leu) c.980A>T (p.Gln327Leu) c.998A>T (p.Gln333Leu) | |
| 2 | g.127428565G>A | CA428871877 | PROC | c.1005G>A (p.Gln335=) c.329G>A c.1107G>A (p.Gln369=) c.1188G>A (p.Gln396=) c.1170G>A (p.Gln390=) c.1068G>A (p.Gln356=) n.1332-301C>T c.1248G>A (p.Gln416=) c.1350G>A (p.Gln450=) c.1290G>A (p.Gln430=) n.3607-301C>T n.4043-301C>T c.1173G>A (p.Gln391=) c.1191G>A (p.Gln397=) c.948G>A (p.Gln316=) c.981G>A (p.Gln327=) c.999G>A (p.Gln333=) | ClinVar gnomAD v4 |
| 2 | g.127428565G>C | CA348405376 | PROC | c.1005G>C (p.Gln335His) c.329G>C c.1107G>C (p.Gln369His) c.1188G>C (p.Gln396His) c.1170G>C (p.Gln390His) c.1068G>C (p.Gln356His) n.1332-301C>G c.1248G>C (p.Gln416His) c.1350G>C (p.Gln450His) c.1290G>C (p.Gln430His) n.3607-301C>G n.4043-301C>G c.1173G>C (p.Gln391His) c.1191G>C (p.Gln397His) c.948G>C (p.Gln316His) c.981G>C (p.Gln327His) c.999G>C (p.Gln333His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428565G= | CA1286884528 | PROC | c.1005G= (p.Gln335=) c.329G= c.1107G= (p.Gln369=) c.1188G= (p.Gln396=) c.1170G= (p.Gln390=) c.1068G= (p.Gln356=) n.1332-301C= c.1248G= (p.Gln416=) c.1350G= (p.Gln450=) c.1290G= (p.Gln430=) n.3607-301C= n.4043-301C= c.1173G= (p.Gln391=) c.1191G= (p.Gln397=) c.948G= (p.Gln316=) c.981G= (p.Gln327=) c.999G= (p.Gln333=) | |
| 2 | g.127428565G>T | CA348405378 | PROC | c.1005G>T (p.Gln335His) c.329G>T c.1107G>T (p.Gln369His) c.1188G>T (p.Gln396His) c.1170G>T (p.Gln390His) c.1068G>T (p.Gln356His) n.1332-301C>A c.1248G>T (p.Gln416His) c.1350G>T (p.Gln450His) c.1290G>T (p.Gln430His) n.3607-301C>A n.4043-301C>A c.1173G>T (p.Gln391His) c.1191G>T (p.Gln397His) c.948G>T (p.Gln316His) c.981G>T (p.Gln327His) c.999G>T (p.Gln333His) | |
| 2 | g.127428566G>A | CA348405382 | PROC | c.1006G>A (p.Glu336Lys) c.330G>A c.1108G>A (p.Glu370Lys) c.1189G>A (p.Glu397Lys) c.1171G>A (p.Glu391Lys) c.1069G>A (p.Glu357Lys) n.1332-302C>T c.1249G>A (p.Glu417Lys) c.1351G>A (p.Glu451Lys) c.1291G>A (p.Glu431Lys) n.3607-302C>T n.4043-302C>T c.1174G>A (p.Glu392Lys) c.1192G>A (p.Glu398Lys) c.949G>A (p.Glu317Lys) c.982G>A (p.Glu328Lys) c.1000G>A (p.Glu334Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428566G>C | CA348405384 | PROC | c.1006G>C (p.Glu336Gln) c.330G>C c.1108G>C (p.Glu370Gln) c.1189G>C (p.Glu397Gln) c.1171G>C (p.Glu391Gln) c.1069G>C (p.Glu357Gln) n.1332-302C>G c.1249G>C (p.Glu417Gln) c.1351G>C (p.Glu451Gln) c.1291G>C (p.Glu431Gln) n.3607-302C>G n.4043-302C>G c.1174G>C (p.Glu392Gln) c.1192G>C (p.Glu398Gln) c.949G>C (p.Glu317Gln) c.982G>C (p.Glu328Gln) c.1000G>C (p.Glu334Gln) | |
| 2 | g.127428566G= | CA1286884529 | PROC | c.1006G= (p.Glu336=) c.330G= c.1108G= (p.Glu370=) c.1189G= (p.Glu397=) c.1171G= (p.Glu391=) c.1069G= (p.Glu357=) n.1332-302C= c.1249G= (p.Glu417=) c.1351G= (p.Glu451=) c.1291G= (p.Glu431=) n.3607-302C= n.4043-302C= c.1174G= (p.Glu392=) c.1192G= (p.Glu398=) c.949G= (p.Glu317=) c.982G= (p.Glu328=) c.1000G= (p.Glu334=) | |
| 2 | g.127428566G>T | CA348405386 | PROC | c.1006G>T (p.Glu336Ter) c.330G>T c.1108G>T (p.Glu370Ter) c.1189G>T (p.Glu397Ter) c.1171G>T (p.Glu391Ter) c.1069G>T (p.Glu357Ter) n.1332-302C>A c.1249G>T (p.Glu417Ter) c.1351G>T (p.Glu451Ter) c.1291G>T (p.Glu431Ter) n.3607-302C>A n.4043-302C>A c.1174G>T (p.Glu392Ter) c.1192G>T (p.Glu398Ter) c.949G>T (p.Glu317Ter) c.982G>T (p.Glu328Ter) c.1000G>T (p.Glu334Ter) | |
| 2 | g.127428567A>C | CA348405391 | PROC | c.1007A>C (p.Glu336Ala) c.331A>C c.1109A>C (p.Glu370Ala) c.1190A>C (p.Glu397Ala) c.1172A>C (p.Glu391Ala) c.1070A>C (p.Glu357Ala) n.1332-303T>G c.1250A>C (p.Glu417Ala) c.1352A>C (p.Glu451Ala) c.1292A>C (p.Glu431Ala) n.3607-303T>G n.4043-303T>G c.1175A>C (p.Glu392Ala) c.1193A>C (p.Glu398Ala) c.950A>C (p.Glu317Ala) c.983A>C (p.Glu328Ala) c.1001A>C (p.Glu334Ala) | |
| 2 | g.127428567A>G | CA348405393 | PROC | c.1007A>G (p.Glu336Gly) c.331A>G c.1109A>G (p.Glu370Gly) c.1190A>G (p.Glu397Gly) c.1172A>G (p.Glu391Gly) c.1070A>G (p.Glu357Gly) n.1332-303T>C c.1250A>G (p.Glu417Gly) c.1352A>G (p.Glu451Gly) c.1292A>G (p.Glu431Gly) n.3607-303T>C n.4043-303T>C c.1175A>G (p.Glu392Gly) c.1193A>G (p.Glu398Gly) c.950A>G (p.Glu317Gly) c.983A>G (p.Glu328Gly) c.1001A>G (p.Glu334Gly) | |
| 2 | g.127428567A>T | CA348405397 | PROC | c.1007A>T (p.Glu336Val) c.331A>T c.1109A>T (p.Glu370Val) c.1190A>T (p.Glu397Val) c.1172A>T (p.Glu391Val) c.1070A>T (p.Glu357Val) n.1332-303T>A c.1250A>T (p.Glu417Val) c.1352A>T (p.Glu451Val) c.1292A>T (p.Glu431Val) n.3607-303T>A n.4043-303T>A c.1175A>T (p.Glu392Val) c.1193A>T (p.Glu398Val) c.950A>T (p.Glu317Val) c.983A>T (p.Glu328Val) c.1001A>T (p.Glu334Val) | |
| 2 | g.127428568G>A | CA428871894 | PROC | c.1008G>A (p.Glu336=) c.332G>A c.1110G>A (p.Glu370=) c.1191G>A (p.Glu397=) c.1173G>A (p.Glu391=) c.1071G>A (p.Glu357=) n.1332-304C>T c.1251G>A (p.Glu417=) c.1353G>A (p.Glu451=) c.1293G>A (p.Glu431=) n.3607-304C>T n.4043-304C>T c.1176G>A (p.Glu392=) c.1194G>A (p.Glu398=) c.951G>A (p.Glu317=) c.984G>A (p.Glu328=) c.1002G>A (p.Glu334=) | |
| 2 | g.127428568G>C | CA348405398 | PROC | c.1008G>C (p.Glu336Asp) c.332G>C c.1110G>C (p.Glu370Asp) c.1191G>C (p.Glu397Asp) c.1173G>C (p.Glu391Asp) c.1071G>C (p.Glu357Asp) n.1332-304C>G c.1251G>C (p.Glu417Asp) c.1353G>C (p.Glu451Asp) c.1293G>C (p.Glu431Asp) n.3607-304C>G n.4043-304C>G c.1176G>C (p.Glu392Asp) c.1194G>C (p.Glu398Asp) c.951G>C (p.Glu317Asp) c.984G>C (p.Glu328Asp) c.1002G>C (p.Glu334Asp) | |
| 2 | g.127428568G>T | CA348405401 | PROC | c.1008G>T (p.Glu336Asp) c.332G>T c.1110G>T (p.Glu370Asp) c.1191G>T (p.Glu397Asp) c.1173G>T (p.Glu391Asp) c.1071G>T (p.Glu357Asp) n.1332-304C>A c.1251G>T (p.Glu417Asp) c.1353G>T (p.Glu451Asp) c.1293G>T (p.Glu431Asp) n.3607-304C>A n.4043-304C>A c.1176G>T (p.Glu392Asp) c.1194G>T (p.Glu398Asp) c.951G>T (p.Glu317Asp) c.984G>T (p.Glu328Asp) c.1002G>T (p.Glu334Asp) | |
| 2 | g.127428569A>C | CA348405408 | PROC | c.1009A>C (p.Thr337Pro) c.333A>C c.1111A>C (p.Thr371Pro) c.1192A>C (p.Thr398Pro) c.1174A>C (p.Thr392Pro) c.1072A>C (p.Thr358Pro) n.1332-305T>G c.1252A>C (p.Thr418Pro) c.1354A>C (p.Thr452Pro) c.1294A>C (p.Thr432Pro) n.3607-305T>G n.4043-305T>G c.1177A>C (p.Thr393Pro) c.1195A>C (p.Thr399Pro) c.952A>C (p.Thr318Pro) c.985A>C (p.Thr329Pro) c.1003A>C (p.Thr335Pro) | |
| 2 | g.127428569A>G | CA348405407 | PROC | c.1009A>G (p.Thr337Ala) c.333A>G c.1111A>G (p.Thr371Ala) c.1192A>G (p.Thr398Ala) c.1174A>G (p.Thr392Ala) c.1072A>G (p.Thr358Ala) n.1332-305T>C c.1252A>G (p.Thr418Ala) c.1354A>G (p.Thr452Ala) c.1294A>G (p.Thr432Ala) n.3607-305T>C n.4043-305T>C c.1177A>G (p.Thr393Ala) c.1195A>G (p.Thr399Ala) c.952A>G (p.Thr318Ala) c.985A>G (p.Thr329Ala) c.1003A>G (p.Thr335Ala) | |
| 2 | g.127428569A>T | CA348405405 | PROC | c.1009A>T (p.Thr337Ser) c.333A>T c.1111A>T (p.Thr371Ser) c.1192A>T (p.Thr398Ser) c.1174A>T (p.Thr392Ser) c.1072A>T (p.Thr358Ser) n.1332-305T>A c.1252A>T (p.Thr418Ser) c.1354A>T (p.Thr452Ser) c.1294A>T (p.Thr432Ser) n.3607-305T>A n.4043-305T>A c.1177A>T (p.Thr393Ser) c.1195A>T (p.Thr399Ser) c.952A>T (p.Thr318Ser) c.985A>T (p.Thr329Ser) c.1003A>T (p.Thr335Ser) | |
| 2 | g.127428570C>A | CA348405412 | PROC | c.1010C>A (p.Thr337Asn) c.334C>A c.1112C>A (p.Thr371Asn) c.1193C>A (p.Thr398Asn) c.1175C>A (p.Thr392Asn) c.1073C>A (p.Thr358Asn) n.1332-306G>T c.1253C>A (p.Thr418Asn) c.1355C>A (p.Thr452Asn) c.1295C>A (p.Thr432Asn) n.3607-306G>T n.4043-306G>T c.1178C>A (p.Thr393Asn) c.1196C>A (p.Thr399Asn) c.953C>A (p.Thr318Asn) c.986C>A (p.Thr329Asn) c.1004C>A (p.Thr335Asn) | |
| 2 | g.127428570C= | CA1286884530 | PROC | c.1010C= (p.Thr337=) c.334C= c.1112C= (p.Thr371=) c.1193C= (p.Thr398=) c.1175C= (p.Thr392=) c.1073C= (p.Thr358=) n.1332-306G= c.1253C= (p.Thr418=) c.1355C= (p.Thr452=) c.1295C= (p.Thr432=) n.3607-306G= n.4043-306G= c.1178C= (p.Thr393=) c.1196C= (p.Thr399=) c.953C= (p.Thr318=) c.986C= (p.Thr329=) c.1004C= (p.Thr335=) | |
| 2 | g.127428570C>G | CA348405415 | PROC | c.1010C>G (p.Thr337Ser) c.334C>G c.1112C>G (p.Thr371Ser) c.1193C>G (p.Thr398Ser) c.1175C>G (p.Thr392Ser) c.1073C>G (p.Thr358Ser) n.1332-306G>C c.1253C>G (p.Thr418Ser) c.1355C>G (p.Thr452Ser) c.1295C>G (p.Thr432Ser) n.3607-306G>C n.4043-306G>C c.1178C>G (p.Thr393Ser) c.1196C>G (p.Thr399Ser) c.953C>G (p.Thr318Ser) c.986C>G (p.Thr329Ser) c.1004C>G (p.Thr335Ser) | |
| 2 | g.127428570C>T | CA211727 | PROC | c.1010C>T (p.Thr337Ile) c.334C>T c.1112C>T (p.Thr371Ile) c.1193C>T (p.Thr398Ile) c.1175C>T (p.Thr392Ile) c.1073C>T (p.Thr358Ile) n.1332-306G>A c.1253C>T (p.Thr418Ile) c.1355C>T (p.Thr452Ile) c.1295C>T (p.Thr432Ile) n.3607-306G>A n.4043-306G>A c.1178C>T (p.Thr393Ile) c.1196C>T (p.Thr399Ile) c.953C>T (p.Thr318Ile) c.986C>T (p.Thr329Ile) c.1004C>T (p.Thr335Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.127428571C>A | CA428871904 | PROC | c.1011C>A (p.Thr337=) c.335C>A c.1113C>A (p.Thr371=) c.1194C>A (p.Thr398=) c.1176C>A (p.Thr392=) c.1074C>A (p.Thr358=) n.1332-307G>T c.1254C>A (p.Thr418=) c.1356C>A (p.Thr452=) c.1296C>A (p.Thr432=) n.3607-307G>T n.4043-307G>T c.1179C>A (p.Thr393=) c.1197C>A (p.Thr399=) c.954C>A (p.Thr318=) c.987C>A (p.Thr329=) c.1005C>A (p.Thr335=) | |
| 2 | g.127428571C>G | CA428871906 | PROC | c.1011C>G (p.Thr337=) c.335C>G c.1113C>G (p.Thr371=) c.1194C>G (p.Thr398=) c.1176C>G (p.Thr392=) c.1074C>G (p.Thr358=) n.1332-307G>C c.1254C>G (p.Thr418=) c.1356C>G (p.Thr452=) c.1296C>G (p.Thr432=) n.3607-307G>C n.4043-307G>C c.1179C>G (p.Thr393=) c.1197C>G (p.Thr399=) c.954C>G (p.Thr318=) c.987C>G (p.Thr329=) c.1005C>G (p.Thr335=) | |
| 2 | g.127428571C>T | CA428871908 | PROC | c.1011C>T (p.Thr337=) c.335C>T c.1113C>T (p.Thr371=) c.1194C>T (p.Thr398=) c.1176C>T (p.Thr392=) c.1074C>T (p.Thr358=) n.1332-307G>A c.1254C>T (p.Thr418=) c.1356C>T (p.Thr452=) c.1296C>T (p.Thr432=) n.3607-307G>A n.4043-307G>A c.1179C>T (p.Thr393=) c.1197C>T (p.Thr399=) c.954C>T (p.Thr318=) c.987C>T (p.Thr329=) c.1005C>T (p.Thr335=) | |
| 2 | g.127428572C>A | CA348405421 | PROC | c.1012C>A (p.Leu338Ile) c.336C>A c.1114C>A (p.Leu372Ile) c.1195C>A (p.Leu399Ile) c.1177C>A (p.Leu393Ile) c.1075C>A (p.Leu359Ile) n.1332-308G>T c.1255C>A (p.Leu419Ile) c.1357C>A (p.Leu453Ile) c.1297C>A (p.Leu433Ile) n.3607-308G>T n.4043-308G>T c.1180C>A (p.Leu394Ile) c.1198C>A (p.Leu400Ile) c.955C>A (p.Leu319Ile) c.988C>A (p.Leu330Ile) c.1006C>A (p.Leu336Ile) | |
| 2 | g.127428572C>G | CA348405427 | PROC | c.1012C>G (p.Leu338Val) c.336C>G c.1114C>G (p.Leu372Val) c.1195C>G (p.Leu399Val) c.1177C>G (p.Leu393Val) c.1075C>G (p.Leu359Val) n.1332-308G>C c.1255C>G (p.Leu419Val) c.1357C>G (p.Leu453Val) c.1297C>G (p.Leu433Val) n.3607-308G>C n.4043-308G>C c.1180C>G (p.Leu394Val) c.1198C>G (p.Leu400Val) c.955C>G (p.Leu319Val) c.988C>G (p.Leu330Val) c.1006C>G (p.Leu336Val) | gnomAD v4 |
| 2 | g.127428572C>T | CA348405429 | PROC | c.1012C>T (p.Leu338Phe) c.336C>T c.1114C>T (p.Leu372Phe) c.1195C>T (p.Leu399Phe) c.1177C>T (p.Leu393Phe) c.1075C>T (p.Leu359Phe) n.1332-308G>A c.1255C>T (p.Leu419Phe) c.1357C>T (p.Leu453Phe) c.1297C>T (p.Leu433Phe) n.3607-308G>A n.4043-308G>A c.1180C>T (p.Leu394Phe) c.1198C>T (p.Leu400Phe) c.955C>T (p.Leu319Phe) c.988C>T (p.Leu330Phe) c.1006C>T (p.Leu336Phe) | |
| 2 | g.127428573T>A | CA348405432 | PROC | c.1013T>A (p.Leu338His) c.337T>A c.1115T>A (p.Leu372His) c.1196T>A (p.Leu399His) c.1178T>A (p.Leu393His) c.1076T>A (p.Leu359His) n.1332-309A>T c.1256T>A (p.Leu419His) c.1358T>A (p.Leu453His) c.1298T>A (p.Leu433His) n.3607-309A>T n.4043-309A>T c.1181T>A (p.Leu394His) c.1199T>A (p.Leu400His) c.956T>A (p.Leu319His) c.989T>A (p.Leu330His) c.1007T>A (p.Leu336His) | gnomAD v4 |
| 2 | g.127428573T>C | CA348405436 | PROC | c.1013T>C (p.Leu338Pro) c.337T>C c.1115T>C (p.Leu372Pro) c.1196T>C (p.Leu399Pro) c.1178T>C (p.Leu393Pro) c.1076T>C (p.Leu359Pro) n.1332-309A>G c.1256T>C (p.Leu419Pro) c.1358T>C (p.Leu453Pro) c.1298T>C (p.Leu433Pro) n.3607-309A>G n.4043-309A>G c.1181T>C (p.Leu394Pro) c.1199T>C (p.Leu400Pro) c.956T>C (p.Leu319Pro) c.989T>C (p.Leu330Pro) c.1007T>C (p.Leu336Pro) | |
| 2 | g.127428573T>G | CA348405438 | PROC | c.1013T>G (p.Leu338Arg) c.337T>G c.1115T>G (p.Leu372Arg) c.1196T>G (p.Leu399Arg) c.1178T>G (p.Leu393Arg) c.1076T>G (p.Leu359Arg) n.1332-309A>C c.1256T>G (p.Leu419Arg) c.1358T>G (p.Leu453Arg) c.1298T>G (p.Leu433Arg) n.3607-309A>C n.4043-309A>C c.1181T>G (p.Leu394Arg) c.1199T>G (p.Leu400Arg) c.956T>G (p.Leu319Arg) c.989T>G (p.Leu330Arg) c.1007T>G (p.Leu336Arg) | |
| 2 | g.127428574C>A | CA428871919 | PROC | c.1014C>A (p.Leu338=) c.338C>A c.1116C>A (p.Leu372=) c.1197C>A (p.Leu399=) c.1179C>A (p.Leu393=) c.1077C>A (p.Leu359=) n.1332-310G>T c.1257C>A (p.Leu419=) c.1359C>A (p.Leu453=) c.1299C>A (p.Leu433=) n.3607-310G>T n.4043-310G>T c.1182C>A (p.Leu394=) c.1200C>A (p.Leu400=) c.957C>A (p.Leu319=) c.990C>A (p.Leu330=) c.1008C>A (p.Leu336=) | |
| 2 | g.127428574C= | CA1286884531 | PROC | c.1014C= (p.Leu338=) c.338C= c.1116C= (p.Leu372=) c.1197C= (p.Leu399=) c.1179C= (p.Leu393=) c.1077C= (p.Leu359=) n.1332-310G= c.1257C= (p.Leu419=) c.1359C= (p.Leu453=) c.1299C= (p.Leu433=) n.3607-310G= n.4043-310G= c.1182C= (p.Leu394=) c.1200C= (p.Leu400=) c.957C= (p.Leu319=) c.990C= (p.Leu330=) c.1008C= (p.Leu336=) | |
| 2 | g.127428574C>G | CA428871923 | PROC | c.1014C>G (p.Leu338=) c.338C>G c.1116C>G (p.Leu372=) c.1197C>G (p.Leu399=) c.1179C>G (p.Leu393=) c.1077C>G (p.Leu359=) n.1332-310G>C c.1257C>G (p.Leu419=) c.1359C>G (p.Leu453=) c.1299C>G (p.Leu433=) n.3607-310G>C n.4043-310G>C c.1182C>G (p.Leu394=) c.1200C>G (p.Leu400=) c.957C>G (p.Leu319=) c.990C>G (p.Leu330=) c.1008C>G (p.Leu336=) | |
| 2 | g.127428574C>T | CA1859503 | PROC | c.1014C>T (p.Leu338=) c.338C>T c.1116C>T (p.Leu372=) c.1197C>T (p.Leu399=) c.1179C>T (p.Leu393=) c.1077C>T (p.Leu359=) n.1332-310G>A c.1257C>T (p.Leu419=) c.1359C>T (p.Leu453=) c.1299C>T (p.Leu433=) n.3607-310G>A n.4043-310G>A c.1182C>T (p.Leu394=) c.1200C>T (p.Leu400=) c.957C>T (p.Leu319=) c.990C>T (p.Leu330=) c.1008C>T (p.Leu336=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |