| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |