|
NM_007259.5(VPS45):c.1032A>G (p.Glu344=)
|
rs74127419
|
0.03652
|
|
NM_007259.5(VPS45):c.246T>G (p.Ile82Met)
|
rs62622370
|
0.03643
|
|
NM_007259.5(VPS45):c.290-14C>T
|
rs148026724
|
0.00735
|
|
NM_007259.5(VPS45):c.570C>T (p.Cys190=)
|
rs114087868
|
0.00487
|
|
NM_007259.5(VPS45):c.937-16G>A
|
rs193195913
|
0.00191
|
|
NM_007259.5(VPS45):c.318C>T (p.Asp106=)
|
rs150076399
|
0.00091
|
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
|
NM_007259.5(VPS45):c.126G>A (p.Ser42=)
|
rs148944527
|
0.00076
|
|
NM_007259.5(VPS45):c.1626-14A>C
|
rs201279066
|
0.00076
|
|
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly)
|
rs144659538
|
0.00061
|
|
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala)
|
rs146014368
|
0.00050
|
|
NM_007259.5(VPS45):c.-4C>T
|
rs200563209
|
0.00026
|
|
NM_007259.5(VPS45):c.1297C>A (p.Arg433=)
|
rs140771138
|
0.00026
|
|
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)
|
rs143828923
|
0.00026
|
|
NM_007259.5(VPS45):c.1556A>G (p.Tyr519Cys)
|
rs145193116
|
0.00021
|
|
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)
|
rs782059726
|
0.00019
|
|
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg)
|
rs191692092
|
0.00019
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_007259.5(VPS45):c.1701G>A (p.Ala567=)
|
rs377365764
|
0.00016
|
|
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys)
|
rs151292369
|
0.00014
|
|
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)
|
rs142968690
|
0.00014
|
|
NM_007259.5(VPS45):c.614G>A (p.Arg205His)
|
rs146660821
|
0.00014
|
|
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly)
|
rs587646859
|
0.00012
|
|
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly)
|
rs781801888
|
0.00011
|
|
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
|
rs373735080
|
0.00010
|
|
NM_007259.5(VPS45):c.897A>G (p.Pro299=)
|
rs184193549
|
0.00010
|
|
NM_007259.5(VPS45):c.114A>G (p.Val38=)
|
rs1180456081
|
0.00009
|
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
|
NM_007259.5(VPS45):c.1264-14C>G
|
rs587647418
|
0.00009
|
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
|
NM_007259.5(VPS45):c.1473C>T (p.Gly491=)
|
rs142640111
|
0.00008
|
|
NM_007259.5(VPS45):c.462G>A (p.Gln154=)
|
rs781792682
|
0.00008
|
|
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)
|
rs148174305
|
0.00008
|
|
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu)
|
rs201002467
|
0.00007
|
|
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln)
|
rs370166172
|
0.00007
|
|
NM_007259.5(VPS45):c.571G>A (p.Val191Ile)
|
rs200783288
|
0.00007
|
|
NM_007259.5(VPS45):c.1314C>T (p.Asp438=)
|
rs781797197
|
0.00006
|
|
NM_007259.5(VPS45):c.1620G>A (p.Thr540=)
|
rs144696919
|
0.00006
|
|
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg)
|
rs139992347
|
0.00006
|
|
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn)
|
rs1315600520
|
0.00006
|
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
|
NM_007259.5(VPS45):c.687G>C (p.Gln229His)
|
rs200019200
|
0.00005
|
|
NM_007259.5(VPS45):c.939G>A (p.Ala313=)
|
rs142461153
|
0.00005
|
|
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln)
|
rs183320612
|
0.00004
|
|
NM_007259.5(VPS45):c.290-13T>G
|
rs781872625
|
0.00004
|
|
NM_007259.5(VPS45):c.319G>A (p.Val107Met)
|
rs782553177
|
0.00004
|
|
NM_007259.5(VPS45):c.369+8T>A
|
rs201637627
|
0.00004
|
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
|
NM_007259.5(VPS45):c.577-17T>C
|
rs367947281
|
0.00004
|
|
NM_007259.5(VPS45):c.822+7G>C
|
rs782697127
|
0.00004
|
|
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln)
|
rs782749137
|
0.00003
|
|
NM_007259.5(VPS45):c.1272T>C (p.Ser424=)
|
rs1476538589
|
0.00003
|
|
NM_007259.5(VPS45):c.756G>T (p.Val252=)
|
rs375831361
|
0.00003
|
|
NM_007259.5(VPS45):c.780A>G (p.Arg260=)
|
rs1301783999
|
0.00003
|
|
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)
|
rs782225422
|
0.00002
|
|
NM_007259.5(VPS45):c.1105-12A>G
|
rs782626266
|
0.00002
|
|
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)
|
rs190896405
|
0.00002
|
|
NM_007259.5(VPS45):c.1157G>A (p.Arg386His)
|
rs781997687
|
0.00002
|
|
NM_007259.5(VPS45):c.1359C>A (p.Leu453=)
|
rs782429614
|
0.00002
|
|
NM_007259.5(VPS45):c.1371+5A>G
|
rs369221126
|
0.00002
|
|
NM_007259.5(VPS45):c.1401A>G (p.Gln467=)
|
rs1553802459
|
0.00002
|
|
NM_007259.5(VPS45):c.1428T>C (p.His476=)
|
rs782259938
|
0.00002
|
|
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=)
|
rs150044678
|
0.00002
|
|
NM_007259.5(VPS45):c.1494-7A>G
|
rs1435795274
|
0.00002
|
|
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys)
|
rs782426640
|
0.00002
|
|
NM_007259.5(VPS45):c.1689A>G (p.Thr563=)
|
rs782289649
|
0.00002
|
|
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val)
|
rs373074422
|
0.00002
|
|
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)
|
rs782052786
|
0.00002
|
|
NM_007259.5(VPS45):c.228+8A>G
|
rs782133423
|
0.00002
|
|
NM_007259.5(VPS45):c.378T>C (p.Tyr126=)
|
rs782457677
|
0.00002
|
|
NM_007259.5(VPS45):c.702C>G (p.Ala234=)
|
rs782301145
|
0.00002
|
|
NM_007259.5(VPS45):c.711C>T (p.His237=)
|
rs782676481
|
0.00002
|
|
NM_007259.5(VPS45):c.96T>G (p.Thr32=)
|
rs182111359
|
0.00002
|
|
NM_007259.5(VPS45):c.1002G>C (p.Val334=)
|
rs1655788033
|
0.00001
|
|
NM_007259.5(VPS45):c.1014G>A (p.Leu338=)
|
rs1035463342
|
0.00001
|
|
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter)
|
rs782504130
|
0.00001
|
|
NM_007259.5(VPS45):c.1023G>A (p.Leu341=)
|
rs781805887
|
0.00001
|
|
NM_007259.5(VPS45):c.1104+10A>G
|
rs1259869305
|
0.00001
|
|
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys)
|
rs1656346466
|
0.00001
|
|
NM_007259.5(VPS45):c.1162G>A (p.Val388Met)
|
rs782104716
|
0.00001
|
|
NM_007259.5(VPS45):c.1164G>A (p.Val388=)
|
rs370958835
|
0.00001
|
|
NM_007259.5(VPS45):c.1179A>G (p.Leu393=)
|
rs1656349407
|
0.00001
|
|
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly)
|
rs782194772
|
0.00001
|
|
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His)
|
rs782431885
|
0.00001
|
|
NM_007259.5(VPS45):c.1260A>G (p.Arg420=)
|
rs1656355917
|
0.00001
|
|
NM_007259.5(VPS45):c.1326C>T (p.Pro442=)
|
rs371945894
|
0.00001
|
|
NM_007259.5(VPS45):c.1335T>C (p.Ala445=)
|
rs1330742139
|
0.00001
|
|
NM_007259.5(VPS45):c.1338G>A (p.Val446=)
|
rs1656378115
|
0.00001
|
|
NM_007259.5(VPS45):c.1344C>T (p.Ile448=)
|
rs933924434
|
0.00001
|
|
NM_007259.5(VPS45):c.1372-9C>T
|
rs201173713
|
0.00001
|
|
NM_007259.5(VPS45):c.1372-9_1372-8del
|
rs782327109
|
0.00001
|
|
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg)
|
rs917642055
|
0.00001
|
|
NM_007259.5(VPS45):c.1458A>G (p.Leu486=)
|
rs782320365
|
0.00001
|
|
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile)
|
rs1323351672
|
0.00001
|
|
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)
|
rs782797599
|
0.00001
|
|
NM_007259.5(VPS45):c.1625+19T>G
|
rs1003447515
|
0.00001
|
|
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr)
|
rs782327338
|
0.00001
|
|
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)
|
rs1441537795
|
0.00001
|
|
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)
|
rs1348750495
|
0.00001
|
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
|
NM_007259.5(VPS45):c.210T>C (p.Cys70=)
|
rs782670487
|
0.00001
|
|
NM_007259.5(VPS45):c.229-19C>T
|
rs1400300011
|
0.00001
|
|
NM_007259.5(VPS45):c.234T>C (p.Asn78=)
|
rs782045429
|
0.00001
|
|
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)
|
rs782513242
|
0.00001
|
|
NM_007259.5(VPS45):c.290-11_290-10del
|
rs1389688490
|
0.00001
|
|
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser)
|
rs139341274
|
0.00001
|
|
NM_007259.5(VPS45):c.345A>G (p.Glu115=)
|
rs1655380604
|
0.00001
|
|
NM_007259.5(VPS45):c.353T>G (p.Val118Gly)
|
rs1298740891
|
0.00001
|
|
NM_007259.5(VPS45):c.439-14T>G
|
rs781842590
|
0.00001
|
|
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr)
|
rs781964646
|
0.00001
|
|
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala)
|
rs1553798269
|
0.00001
|
|
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala)
|
rs142551106
|
0.00001
|
|
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg)
|
rs200134576
|
0.00001
|
|
NM_007259.5(VPS45):c.48G>A (p.Glu16=)
|
rs1250860828
|
0.00001
|
|
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys)
|
rs782677308
|
0.00001
|
|
NM_007259.5(VPS45):c.580G>A (p.Val194Met)
|
rs587713385
|
0.00001
|
|
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)
|
rs368347807
|
0.00001
|
|
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys)
|
rs908608470
|
0.00001
|
|
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)
|
rs782495021
|
0.00001
|
|
NM_007259.5(VPS45):c.624G>A (p.Glu208=)
|
rs782290162
|
0.00001
|
|
NM_007259.5(VPS45):c.64A>G (p.Met22Val)
|
rs782253570
|
0.00001
|
|
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys)
|
rs1571825459
|
0.00001
|
|
NM_007259.5(VPS45):c.679C>T (p.Leu227=)
|
rs1655478636
|
0.00001
|
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
|
NM_007259.5(VPS45):c.718C>G (p.Leu240Val)
|
rs587716374
|
0.00001
|
|
NM_007259.5(VPS45):c.759G>A (p.Pro253=)
|
rs782131359
|
0.00001
|
|
NM_007259.5(VPS45):c.765C>T (p.Ile255=)
|
rs1329207920
|
0.00001
|
|
NM_007259.5(VPS45):c.78C>T (p.Leu26=)
|
rs1233278099
|
0.00001
|
|
NM_007259.5(VPS45):c.823-8T>C
|
rs1019641850
|
0.00001
|
|
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser)
|
rs782164464
|
0.00001
|
|
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu)
|
rs782739886
|
0.00001
|
|
NM_007259.5(VPS45):c.906G>A (p.Gln302=)
|
rs781829979
|
0.00001
|
|
NM_007259.5(VPS45):c.915A>G (p.Leu305=)
|
rs1385543985
|
0.00001
|
|
NM_007259.5(VPS45):c.930C>T (p.Asp310=)
|
rs145369624
|
0.00001
|
|
NM_007259.5(VPS45):c.937-7A>G
|
rs1177905127
|
0.00001
|
|
NM_007259.5(VPS45):c.93G>A (p.Thr31=)
|
rs1387315578
|
0.00001
|
|
NM_007259.5(VPS45):c.94-5T>C
|
rs1553796313
|
0.00001
|
|
NM_007259.5(VPS45):c.957A>C (p.Pro319=)
|
rs587769473
|
0.00001
|
|
NC_000001.10:g.(?_150048291)_(150082762_?)dup
|
|
|
|
NM_007259.5(VPS45):c.1005T>A (p.Val335=)
|
|
|
|
NM_007259.5(VPS45):c.1005T>C (p.Val335=)
|
rs2101538747
|
|
|
NM_007259.5(VPS45):c.1011A>G (p.Glu337=)
|
rs781878634
|
|
|
NM_007259.5(VPS45):c.1021T>C (p.Leu341=)
|
|
|
|
NM_007259.5(VPS45):c.1041G>A (p.Leu347=)
|
rs2101538873
|
|
|
NM_007259.5(VPS45):c.1042C>T (p.Leu348=)
|
rs2101538885
|
|
|
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
|
|
|
|
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
|
|
|
|
NM_007259.5(VPS45):c.1074C>T (p.Ala358=)
|
|
|
|
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
|
|
|
|
NM_007259.5(VPS45):c.1092T>C (p.Ser364=)
|
|
|
|
NM_007259.5(VPS45):c.1098T>C (p.Ala366=)
|
|
|
|
NM_007259.5(VPS45):c.1104+14G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+17G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+19G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+7C>T
|
rs1571834548
|
|
|
NM_007259.5(VPS45):c.1104+8C>T
|
|
|
|
NM_007259.5(VPS45):c.1105-10C>T
|
rs2101565432
|
|
|
NM_007259.5(VPS45):c.1105-11T>C
|
|
|
|
NM_007259.5(VPS45):c.1105-12A>C
|
|
|
|
NM_007259.5(VPS45):c.1105-12_1105-9del
|
|
|
|
NM_007259.5(VPS45):c.1105-14C>G
|
|
|
|
NM_007259.5(VPS45):c.1105-15del
|
|
|
|
NM_007259.5(VPS45):c.1105-5T>C
|
rs2101565451
|
|
|
NM_007259.5(VPS45):c.1116G>A (p.Arg372=)
|
rs1302292445
|
|
|
NM_007259.5(VPS45):c.1122G>T (p.Leu374=)
|
|
|
|
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
|
|
|
|
NM_007259.5(VPS45):c.1134A>G (p.Lys378=)
|
|
|
|
NM_007259.5(VPS45):c.1152T>A (p.Ala384=)
|
|
|
|
NM_007259.5(VPS45):c.1152T>C (p.Ala384=)
|
|
|
|
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
|
|
|
|
NM_007259.5(VPS45):c.1155C>T (p.Ala385=)
|
rs1553801991
|
|
|
NM_007259.5(VPS45):c.1158C>G (p.Arg386=)
|
rs1571849016
|
|
|
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn)
|
rs188130682
|
|
|
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
|
|
|
|
NM_007259.5(VPS45):c.1170T>C (p.Leu390=)
|
rs2101565709
|
|
|
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=)
|
|
|
|
NM_007259.5(VPS45):c.1181A>G (p.His394Arg)
|
rs1486347658
|
|
|
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys)
|
rs1656350811
|
|
|
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln)
|
rs1656350811
|
|
|
NM_007259.5(VPS45):c.1194C>T (p.His398=)
|
|
|
|
NM_007259.5(VPS45):c.1200C>T (p.Ser400=)
|
|
|
|
NM_007259.5(VPS45):c.1203T>C (p.Asn401=)
|
|
|
|
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
|
|
|
|
NM_007259.5(VPS45):c.1212A>G (p.Pro404=)
|
rs2101565926
|
|
|
NM_007259.5(VPS45):c.1218A>T (p.Leu406=)
|
|
|
|
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
|
|
|
|
NM_007259.5(VPS45):c.1233G>A (p.Arg411=)
|
rs2101565990
|
|
|
NM_007259.5(VPS45):c.123A>G (p.Gln41=)
|
rs1654857826
|
|
|
NM_007259.5(VPS45):c.1242T>A (p.Gly414=)
|
|
|
|
NM_007259.5(VPS45):c.1242T>G (p.Gly414=)
|
|
|
|
NM_007259.5(VPS45):c.1263+10T>C
|
|
|
|
NM_007259.5(VPS45):c.1263+11T>A
|
|
|
|
NM_007259.5(VPS45):c.1263+11dup
|
|
|
|
NM_007259.5(VPS45):c.1263+13C>T
|
|
|
|
NM_007259.5(VPS45):c.1263+14A>T
|
|
|
|
NM_007259.5(VPS45):c.1263+16A>G
|
|
|
|
NM_007259.5(VPS45):c.1263+17T>A
|
|
|
|
NM_007259.5(VPS45):c.1263+7A>G
|
|
|
|
NM_007259.5(VPS45):c.1264-13del
|
|
|
|
NM_007259.5(VPS45):c.1264-14C>T
|
|
|
|
NM_007259.5(VPS45):c.1264-9_1264-6del
|
|
|
|
NM_007259.5(VPS45):c.1266C>G (p.Leu422=)
|
|
|
|
NM_007259.5(VPS45):c.1266C>T (p.Leu422=)
|
rs782520287
|
|
|
NM_007259.5(VPS45):c.1267G>A (p.Val423Met)
|
rs201002467
|
|
|
NM_007259.5(VPS45):c.1269G>A (p.Val423=)
|
|
|
|
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)
|
rs1571849671
|
|
|
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
|
|
|
|
NM_007259.5(VPS45):c.1299A>C (p.Arg433=)
|
rs2101566674
|
|
|
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
|
|
|
|
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
|
|
|
|
NM_007259.5(VPS45):c.133C>T (p.Leu45=)
|
rs2101476530
|
|
|
NM_007259.5(VPS45):c.1341T>A (p.Ala447=)
|
rs2101566942
|
|
|
NM_007259.5(VPS45):c.1347C>A (p.Thr449=)
|
rs2101566957
|
|
|
NM_007259.5(VPS45):c.1347C>T (p.Thr449=)
|
|
|
|
NM_007259.5(VPS45):c.1353A>G (p.Gln451=)
|
|
|
|
NM_007259.5(VPS45):c.135A>G (p.Leu45=)
|
rs782284311
|
|
|
NM_007259.5(VPS45):c.1368G>A (p.Leu456=)
|
|
|
|
NM_007259.5(VPS45):c.1371+10TC[3]
|
rs2101567083
|
|
|
NM_007259.5(VPS45):c.1371+11C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+13C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+14C>T
|
|
|
|
NM_007259.5(VPS45):c.1371+14_1371+16del
|
|
|
|
NM_007259.5(VPS45):c.1371+15T>C
|
|
|
|
NM_007259.5(VPS45):c.1371+16C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+16C>T
|
|
|
|
NM_007259.5(VPS45):c.1371+18A>G
|
|
|
|
NM_007259.5(VPS45):c.1371+9A>G
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.1371+9A>T
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.1372-10C>T
|
|
|
|
NM_007259.5(VPS45):c.1372-20A>G
|
|
|
|
NM_007259.5(VPS45):c.1372-3del
|
|
|
|
NM_007259.5(VPS45):c.1372-4T>C
|
|
|
|
NM_007259.5(VPS45):c.1372-6T>C
|
|
|
|
NM_007259.5(VPS45):c.1372-7G>C
|
rs2101570024
|
|
|
NM_007259.5(VPS45):c.1372-8del
|
|
|
|
NM_007259.5(VPS45):c.1372-9C>G
|
|
|
|
NM_007259.5(VPS45):c.1374A>G (p.Gly458=)
|
|
|
|
NM_007259.5(VPS45):c.1386A>G (p.Val462=)
|
rs959109809
|
|
|
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)
|
|
|
|
NM_007259.5(VPS45):c.1392A>T (p.Thr464=)
|
|
|
|
NM_007259.5(VPS45):c.1410A>G (p.Leu470=)
|
rs2101570132
|
|
|
NM_007259.5(VPS45):c.1412A>G (p.His471Arg)
|
rs782441436
|
|
|
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys)
|
rs1656459616
|
|
|
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn)
|
rs1553802469
|
|
|
NM_007259.5(VPS45):c.1419C>G (p.Thr473=)
|
|
|
|
NM_007259.5(VPS45):c.1419C>T (p.Thr473=)
|
|
|
|
NM_007259.5(VPS45):c.1443G>A (p.Arg481=)
|
|
|
|
NM_007259.5(VPS45):c.1455C>T (p.Asn485=)
|
rs1656463069
|
|
|
NM_007259.5(VPS45):c.1458A>C (p.Leu486=)
|
|
|
|
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
|
|
|
|
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg)
|
rs1553802482
|
|
|
NM_007259.5(VPS45):c.1476C>A (p.Pro492=)
|
|
|
|
NM_007259.5(VPS45):c.1476C>G (p.Pro492=)
|
rs1253982752
|
|
|
NM_007259.5(VPS45):c.1479C>T (p.Ser493=)
|
rs2101570323
|
|
|
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile)
|
rs1656465946
|
|
|
NM_007259.5(VPS45):c.1482A>G (p.Thr494=)
|
rs782409875
|
|
|
NM_007259.5(VPS45):c.1491C>T (p.Asp497=)
|
rs782007834
|
|
|
NM_007259.5(VPS45):c.1493+12A>G
|
rs587746538
|
|
|
NM_007259.5(VPS45):c.1493+14G>T
|
|
|
|
NM_007259.5(VPS45):c.1493+18T>C
|
|
|
|
NM_007259.5(VPS45):c.1494-14C>A
|
|
|
|
NM_007259.5(VPS45):c.1494-14C>T
|
|
|
|
NM_007259.5(VPS45):c.1494-15del
|
|
|
|
NM_007259.5(VPS45):c.1494-17A>T
|
|
|
|
NM_007259.5(VPS45):c.1494-5T>C
|
rs781920624
|
|
|
NM_007259.5(VPS45):c.1494-6T>C
|
|
|
|
NM_007259.5(VPS45):c.1500G>A (p.Gln500=)
|
|
|
|
NM_007259.5(VPS45):c.1509T>A (p.Ile503=)
|
rs2101608863
|
|
|
NM_007259.5(VPS45):c.1512G>A (p.Val504=)
|
|
|
|
NM_007259.5(VPS45):c.1515T>C (p.Phe505=)
|
|
|
|
NM_007259.5(VPS45):c.1518A>G (p.Val506=)
|
|
|
|
NM_007259.5(VPS45):c.1518A>T (p.Val506=)
|
|
|
|
NM_007259.5(VPS45):c.1530C>T (p.Ala510=)
|
|
|
|
NM_007259.5(VPS45):c.1533C>T (p.Thr511=)
|
|
|
|
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)
|
rs1571879434
|
|
|
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr)
|
rs2101608934
|
|
|
NM_007259.5(VPS45):c.1551A>C (p.Thr517=)
|
|
|
|
NM_007259.5(VPS45):c.1560C>T (p.Asn520=)
|
rs2101608985
|
|
|
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu)
|
rs1191051819
|
|
|
NM_007259.5(VPS45):c.1572C>T (p.Thr524=)
|
rs782816408
|
|
|
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg)
|
rs2101609044
|
|
|
NM_007259.5(VPS45):c.1584G>A (p.Val528=)
|
rs2101609056
|
|
|
NM_007259.5(VPS45):c.1594C>T (p.Leu532=)
|
|
|
|
NM_007259.5(VPS45):c.1596G>A (p.Leu532=)
|
|
|
|
NM_007259.5(VPS45):c.159A>G (p.Glu53=)
|
|
|
|
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
|
|
|
|
NM_007259.5(VPS45):c.1605C>A (p.Thr535=)
|
rs782478918
|
|
|
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
|
|
|
|
NM_007259.5(VPS45):c.1614C>T (p.His538=)
|
|
|
|
NM_007259.5(VPS45):c.1623A>G (p.Lys541=)
|
rs1553807022
|
|
|
NM_007259.5(VPS45):c.1625+15T>G
|
|
|
|
NM_007259.5(VPS45):c.1626-17C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-18C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-4T>C
|
|
|
|
NM_007259.5(VPS45):c.1626-4T>G
|
rs1327671540
|
|
|
NM_007259.5(VPS45):c.1626-5A>T
|
rs2101672275
|
|
|
NM_007259.5(VPS45):c.1626-8C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-8del
|
rs1571931824
|
|
|
NM_007259.5(VPS45):c.1641T>C (p.Val547=)
|
rs1355098112
|
|
|
NM_007259.5(VPS45):c.1653A>G (p.Gly551=)
|
rs1553816156
|
|
|
NM_007259.5(VPS45):c.1653A>T (p.Gly551=)
|
|
|
|
NM_007259.5(VPS45):c.1656G>T (p.Leu552=)
|
rs1571931928
|
|
|
NM_007259.5(VPS45):c.1659C>T (p.His553=)
|
|
|
|
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro)
|
rs142968690
|
|
|
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln)
|
|
|
|
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro)
|
|
|
|
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)
|
rs1278390607
|
|
|
NM_007259.5(VPS45):c.1689A>T (p.Thr563=)
|
rs782289649
|
|
|
NM_007259.5(VPS45):c.168T>C (p.Asp56=)
|
|
|
|
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
|
|
|
|
NM_007259.5(VPS45):c.1701G>C (p.Ala567=)
|
|
|
|
NM_007259.5(VPS45):c.1701G>T (p.Ala567=)
|
rs377365764
|
|
|
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)
|
rs782358688
|
|
|
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=)
|
|
|
|
NM_007259.5(VPS45):c.1712G>A (p.Ter571=)
|
rs782075318
|
|
|
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)
|
rs1654862605
|
|
|
NM_007259.5(VPS45):c.178C>A (p.Arg60=)
|
|
|
|
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
|
|
|
|
NM_007259.5(VPS45):c.186C>A (p.Ile62=)
|
rs1553796358
|
|
|
NM_007259.5(VPS45):c.187A>G (p.Met63Val)
|
rs1553796360
|
|
|
NM_007259.5(VPS45):c.189G>T (p.Met63Ile)
|
|
|
|
NM_007259.5(VPS45):c.194A>G (p.His65Arg)
|
|
|
|
NM_007259.5(VPS45):c.204A>G (p.Ala68=)
|
rs1553796373
|
|
|
NM_007259.5(VPS45):c.219A>C (p.Arg73=)
|
|
|
|
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser)
|
rs1374559604
|
|
|
NM_007259.5(VPS45):c.228+12dup
|
|
|
|
NM_007259.5(VPS45):c.228+17G>A
|
|
|
|
NM_007259.5(VPS45):c.228+19_228+22dup
|
|
|
|
NM_007259.5(VPS45):c.228+7C>A
|
|
|
|
NM_007259.5(VPS45):c.228+7C>T
|
rs782018422
|
|
|
NM_007259.5(VPS45):c.228+9T>C
|
rs1654867997
|
|
|
NM_007259.5(VPS45):c.229-10C>A
|
rs781990380
|
|
|
NM_007259.5(VPS45):c.229-5dup
|
rs781925027
|
|
|
NM_007259.5(VPS45):c.229-6T>C
|
rs2101495459
|
|
|
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
|
|
|
|
NM_007259.5(VPS45):c.246T>A (p.Ile82=)
|
|
|
|
NM_007259.5(VPS45):c.246T>C (p.Ile82=)
|
rs62622370
|
|
|
NM_007259.5(VPS45):c.258C>G (p.Leu86=)
|
|
|
|
NM_007259.5(VPS45):c.259C>A (p.Arg87=)
|
rs782463106
|
|
|
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg)
|
rs781906938
|
|
|
NM_007259.5(VPS45):c.270A>G (p.Lys90=)
|
|
|
|
NM_007259.5(VPS45):c.276T>C (p.Thr92=)
|
rs2101495807
|
|
|
NM_007259.5(VPS45):c.27G>A (p.Gln9=)
|
rs1654813865
|
|
|
NM_007259.5(VPS45):c.285C>T (p.Phe95=)
|
rs140400945
|
|
|
NM_007259.5(VPS45):c.289+15T>G
|
|
|
|
NM_007259.5(VPS45):c.289+16C>T
|
|
|
|
NM_007259.5(VPS45):c.289+19T>C
|
|
|
|
NM_007259.5(VPS45):c.290-12C>G
|
|
|
|
NM_007259.5(VPS45):c.290-12C>T
|
|
|
|
NM_007259.5(VPS45):c.290-18C>G
|
|
|
|
NM_007259.5(VPS45):c.290-18C>T
|
|
|
|
NM_007259.5(VPS45):c.290-19C>T
|
|
|
|
NM_007259.5(VPS45):c.290-20C>A
|
|
|
|
NM_007259.5(VPS45):c.294C>T (p.Phe98=)
|
|
|
|
NM_007259.5(VPS45):c.297T>C (p.Ser99=)
|
|
|
|
NM_007259.5(VPS45):c.300T>C (p.Asn100=)
|
|
|
|
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
|
|
|
|
NM_007259.5(VPS45):c.303G>T (p.Val101=)
|
|
|
|
NM_007259.5(VPS45):c.304A>G (p.Ile102Val)
|
|
|
|
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn)
|
rs947757508
|
|
|
NM_007259.5(VPS45):c.319G>C (p.Val107Leu)
|
rs782553177
|
|
|
NM_007259.5(VPS45):c.320T>A (p.Val107Glu)
|
|
|
|
NM_007259.5(VPS45):c.321G>A (p.Val107=)
|
|
|
|
NM_007259.5(VPS45):c.324G>A (p.Lys108=)
|
rs2101515532
|
|
|
NM_007259.5(VPS45):c.327A>G (p.Ser109=)
|
|
|
|
NM_007259.5(VPS45):c.328T>C (p.Leu110=)
|
rs2101515546
|
|
|
NM_007259.5(VPS45):c.336A>G (p.Glu112=)
|
rs1571822136
|
|
|
NM_007259.5(VPS45):c.33T>C (p.Ile11=)
|
|
|
|
NM_007259.5(VPS45):c.348G>A (p.Gln116=)
|
|
|
|
NM_007259.5(VPS45):c.352G>A (p.Val118Ile)
|
rs2101515689
|
|
|
NM_007259.5(VPS45):c.357G>A (p.Val119=)
|
rs2101515731
|
|
|
NM_007259.5(VPS45):c.363G>A (p.Glu121=)
|
|
|
|
NM_007259.5(VPS45):c.369+10T>C
|
|
|
|
NM_007259.5(VPS45):c.369+20A>G
|
|
|
|
NM_007259.5(VPS45):c.369+7A>G
|
rs2101515804
|
|
|
NM_007259.5(VPS45):c.369+9A>G
|
|
|
|
NM_007259.5(VPS45):c.369+9_369+10del
|
rs2101515817
|
|
|
NM_007259.5(VPS45):c.370-15G>A
|
|
|
|
NM_007259.5(VPS45):c.370-16G>A
|
|
|
|
NM_007259.5(VPS45):c.370-18T>C
|
|
|
|
NM_007259.5(VPS45):c.370-9T>C
|
rs2101518189
|
|
|
NM_007259.5(VPS45):c.372A>G (p.Glu124=)
|
rs2101518267
|
|
|
NM_007259.5(VPS45):c.399C>T (p.Asn133=)
|
rs2101518426
|
|
|
NM_007259.5(VPS45):c.402A>G (p.Pro134=)
|
|
|
|
NM_007259.5(VPS45):c.404A>G (p.His135Arg)
|
rs781981353
|
|
|
NM_007259.5(VPS45):c.405T>C (p.His135=)
|
|
|
|
NM_007259.5(VPS45):c.406T>C (p.Leu136=)
|
rs2101518468
|
|
|
NM_007259.5(VPS45):c.414C>T (p.Ser138=)
|
|
|
|
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser)
|
rs782339252
|
|
|
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe)
|
|
|
|
NM_007259.5(VPS45):c.429T>A (p.Gly143=)
|
|
|
|
NM_007259.5(VPS45):c.429T>C (p.Gly143=)
|
|
|
|
NM_007259.5(VPS45):c.435C>T (p.Cys145=)
|
rs2101518656
|
|
|
NM_007259.5(VPS45):c.438+13A>G
|
|
|
|
NM_007259.5(VPS45):c.438+14G>A
|
|
|
|
NM_007259.5(VPS45):c.438+18T>C
|
|
|
|
NM_007259.5(VPS45):c.438+7A>G
|
rs2101518689
|
|
|
NM_007259.5(VPS45):c.438+9G>A
|
|
|
|
NM_007259.5(VPS45):c.439-10dup
|
|
|
|
NM_007259.5(VPS45):c.439-2del
|
rs782005099
|
|
|
NM_007259.5(VPS45):c.439-6A>G
|
rs1272899698
|
|
|
NM_007259.5(VPS45):c.439-6A>T
|
rs1272899698
|
|
|
NM_007259.5(VPS45):c.439-7C>T
|
|
|
|
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter)
|
rs1655433446
|
|
|
NM_007259.5(VPS45):c.447T>C (p.Asn149=)
|
rs1553798264
|
|
|
NM_007259.5(VPS45):c.456A>G (p.Pro152=)
|
rs2101519305
|
|
|
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu)
|
rs998654797
|
|
|
NM_007259.5(VPS45):c.465A>G (p.Leu155=)
|
rs2101519368
|
|
|
NM_007259.5(VPS45):c.468T>C (p.Ser156=)
|
|
|
|
NM_007259.5(VPS45):c.468T>G (p.Ser156=)
|
rs2101519395
|
|
|
NM_007259.5(VPS45):c.474A>T (p.Thr158=)
|
rs2101519449
|
|
|
NM_007259.5(VPS45):c.489A>G (p.Thr163=)
|
|
|
|
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
|
|
|
|
NM_007259.5(VPS45):c.513G>A (p.Lys171=)
|
|
|
|
NM_007259.5(VPS45):c.516T>C (p.Cys172=)
|
|
|
|
NM_007259.5(VPS45):c.525T>A (p.Ile175=)
|
|
|
|
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro)
|
rs142225617
|
|
|
NM_007259.5(VPS45):c.528T>C (p.Arg176=)
|
|
|
|
NM_007259.5(VPS45):c.531T>C (p.Tyr177=)
|
|
|
|
NM_007259.5(VPS45):c.537C>G (p.Leu179=)
|
|
|
|
NM_007259.5(VPS45):c.537C>T (p.Leu179=)
|
rs782397315
|
|
|
NM_007259.5(VPS45):c.540A>T (p.Ser180=)
|
|
|
|
NM_007259.5(VPS45):c.543A>G (p.Ser181=)
|
rs2101519854
|
|
|
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
|
|
|
|
NM_007259.5(VPS45):c.564A>T (p.Ala188=)
|
|
|
|
NM_007259.5(VPS45):c.573T>A (p.Val191=)
|
|
|
|
NM_007259.5(VPS45):c.576+12C>T
|
|
|
|
NM_007259.5(VPS45):c.576+15A>G
|
|
|
|
NM_007259.5(VPS45):c.576+18C>T
|
|
|
|
NM_007259.5(VPS45):c.576+20T>C
|
|
|
|
NM_007259.5(VPS45):c.576+4T>C
|
rs1553798326
|
|
|
NM_007259.5(VPS45):c.576+7C>T
|
|
|
|
NM_007259.5(VPS45):c.576+8A>G
|
rs2101520081
|
|
|
NM_007259.5(VPS45):c.577-13C>G
|
|
|
|
NM_007259.5(VPS45):c.577-4A>G
|
rs782591820
|
|
|
NM_007259.5(VPS45):c.577-6C>A
|
|
|
|
NM_007259.5(VPS45):c.577-9C>T
|
rs2101521609
|
|
|
NM_007259.5(VPS45):c.57G>A (p.Gly19=)
|
|
|
|
NM_007259.5(VPS45):c.582G>A (p.Val194=)
|
|
|
|
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
|
|
|
|
NM_007259.5(VPS45):c.591A>G (p.Lys197=)
|
|
|
|
NM_007259.5(VPS45):c.597T>C (p.Tyr199=)
|
rs781964920
|
|
|
NM_007259.5(VPS45):c.600A>G (p.Glu200=)
|
|
|
|
NM_007259.5(VPS45):c.603G>A (p.Leu201=)
|
|
|
|
NM_007259.5(VPS45):c.609A>G (p.Glu203=)
|
|
|
|
NM_007259.5(VPS45):c.615T>C (p.Arg205=)
|
rs2101521872
|
|
|
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
|
|
|
|
NM_007259.5(VPS45):c.621A>C (p.Thr207=)
|
rs1655474952
|
|
|
NM_007259.5(VPS45):c.634T>C (p.Leu212=)
|
|
|
|
NM_007259.5(VPS45):c.645T>A (p.Ile215=)
|
rs2101522081
|
|
|
NM_007259.5(VPS45):c.654C>G (p.Arg218=)
|
|
|
|
NM_007259.5(VPS45):c.658G>C (p.Asp220His)
|
rs1175122293
|
|
|
NM_007259.5(VPS45):c.663T>C (p.Asp221=)
|
rs2101522140
|
|
|
NM_007259.5(VPS45):c.666C>A (p.Ala222=)
|
|
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
|
NM_007259.5(VPS45):c.675A>G (p.Pro225=)
|
rs1553798458
|
|
|
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
|
|
|
|
NM_007259.5(VPS45):c.684C>T (p.Asn228=)
|
rs937860591
|
|
|
NM_007259.5(VPS45):c.687+19G>T
|
|
|
|
NM_007259.5(VPS45):c.687+20C>A
|
|
|
|
NM_007259.5(VPS45):c.687+5A>G
|
|
|
|
NM_007259.5(VPS45):c.687+9C>T
|
|
|
|
NM_007259.5(VPS45):c.688-16A>G
|
|
|
|
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys)
|
rs1655694540
|
|
|
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs)
|
rs782700993
|
|
|
NM_007259.5(VPS45):c.696T>C (p.Tyr232=)
|
|
|
|
NM_007259.5(VPS45):c.6C>T (p.Asn2=)
|
rs1571803153
|
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
|
NM_007259.5(VPS45):c.708C>G (p.Val236=)
|
|
|
|
NM_007259.5(VPS45):c.708C>T (p.Val236=)
|
|
|
|
NM_007259.5(VPS45):c.714A>G (p.Glu238=)
|
|
|
|
NM_007259.5(VPS45):c.717A>G (p.Leu239=)
|
rs782635202
|
|
|
NM_007259.5(VPS45):c.720A>G (p.Leu240=)
|
|
|
|
NM_007259.5(VPS45):c.72A>G (p.Val24=)
|
rs2101472739
|
|
|
NM_007259.5(VPS45):c.739A>G (p.Ile247Val)
|
rs1553799320
|
|
|
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile)
|
rs782367453
|
|
|
NM_007259.5(VPS45):c.747T>G (p.Leu249=)
|
rs2101534085
|
|
|
NM_007259.5(VPS45):c.750C>T (p.Ser250=)
|
rs1571831530
|
|
|
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe)
|
rs2101534236
|
|
|
NM_007259.5(VPS45):c.783A>G (p.Glu261=)
|
rs1655704399
|
|
|
NM_007259.5(VPS45):c.786G>A (p.Val262=)
|
rs2101534304
|
|
|
NM_007259.5(VPS45):c.790C>T (p.Leu264=)
|
|
|
|
NM_007259.5(VPS45):c.816T>C (p.Tyr272=)
|
rs782759963
|
|
|
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser)
|
rs2101534429
|
|
|
NM_007259.5(VPS45):c.822+14A>T
|
|
|
|
NM_007259.5(VPS45):c.822+16T>G
|
|
|
|
NM_007259.5(VPS45):c.822+9T>A
|
rs781898521
|
|
|
NM_007259.5(VPS45):c.822+9T>C
|
|
|
|
NM_007259.5(VPS45):c.823-11C>T
|
rs1655733894
|
|
|
NM_007259.5(VPS45):c.823-12T>C
|
|
|
|
NM_007259.5(VPS45):c.823-13T>C
|
|
|
|
NM_007259.5(VPS45):c.823-20T>C
|
|
|
|
NM_007259.5(VPS45):c.823-5C>T
|
|
|
|
NM_007259.5(VPS45):c.823-7T>G
|
rs2101535746
|
|
|
NM_007259.5(VPS45):c.832C>T (p.Leu278=)
|
|
|
|
NM_007259.5(VPS45):c.852T>A (p.Gly284=)
|
|
|
|
NM_007259.5(VPS45):c.852T>C (p.Gly284=)
|
rs2101535822
|
|
|
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
|
|
|
|
NM_007259.5(VPS45):c.87A>G (p.Lys29=)
|
|
|
|
NM_007259.5(VPS45):c.888G>A (p.Lys296=)
|
rs1315600520
|
|
|
NM_007259.5(VPS45):c.921A>C (p.Ser307=)
|
rs2101536025
|
|
|
NM_007259.5(VPS45):c.926C>T (p.Ala309Val)
|
rs782583704
|
|
|
NM_007259.5(VPS45):c.93+10C>G
|
|
|
|
NM_007259.5(VPS45):c.93+13_93+14dup
|
|
|
|
NM_007259.5(VPS45):c.93+14T>C
|
|
|
|
NM_007259.5(VPS45):c.93+16C>T
|
|
|
|
NM_007259.5(VPS45):c.93+17T>G
|
|
|
|
NM_007259.5(VPS45):c.93+18C>A
|
|
|
|
NM_007259.5(VPS45):c.93+19A>T
|
rs2101473009
|
|
|
NM_007259.5(VPS45):c.936+11C>G
|
|
|
|
NM_007259.5(VPS45):c.936+11C>T
|
|
|
|
NM_007259.5(VPS45):c.936+12A>G
|
|
|
|
NM_007259.5(VPS45):c.936+14G>A
|
|
|
|
NM_007259.5(VPS45):c.936+15T>G
|
|
|
|
NM_007259.5(VPS45):c.936+16A>G
|
rs2101536193
|
|
|
NM_007259.5(VPS45):c.936+9A>C
|
|
|
|
NM_007259.5(VPS45):c.937-10C>A
|
rs587634693
|
|
|
NM_007259.5(VPS45):c.937-11del
|
|
|
|
NM_007259.5(VPS45):c.937-12T>A
|
|
|
|
NM_007259.5(VPS45):c.937-8C>T
|
rs2101538592
|
|
|
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
|
|
|
|
NM_007259.5(VPS45):c.94-16T>C
|
|
|
|
NM_007259.5(VPS45):c.94-18A>T
|
|
|
|
NM_007259.5(VPS45):c.942T>C (p.Phe314=)
|
|
|
|
NM_007259.5(VPS45):c.948G>A (p.Glu316=)
|
|
|
|
NM_007259.5(VPS45):c.957A>G (p.Pro319=)
|
|
|
|
NM_007259.5(VPS45):c.96T>C (p.Thr32=)
|
|
|
|
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
|
|
|
|
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
|
|
|
|
NM_007259.5(VPS45):c.993T>C (p.His331=)
|
|
|