ClinVar Miner

List of variants in gene VPS45 studied for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 530
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.1174G>A (p.Ala392Thr) rs782059726 0.00010
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.192A>T (p.Lys64Asn) rs1441537795 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.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=)

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