NM_003859.3(DPM1):c.679-7A>T
|
rs60224379
|
0.11090
|
NM_003859.3(DPM1):c.84G>C (p.Ser28=)
|
rs16995639
|
0.00708
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_003859.3(DPM1):c.296-12T>C
|
rs200030885
|
0.00143
|
NM_003859.3(DPM1):c.398+13T>C
|
rs201703497
|
0.00140
|
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly)
|
rs147804856
|
0.00034
|
NM_003859.3(DPM1):c.*248T>A
|
rs1020154329
|
0.00030
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)
|
rs752831768
|
0.00022
|
NM_003859.3(DPM1):c.357T>C (p.Ala119=)
|
rs371895653
|
0.00021
|
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)
|
rs146262101
|
0.00016
|
NM_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
NM_003859.3(DPM1):c.564-20A>G
|
rs201186989
|
0.00013
|
NM_003859.3(DPM1):c.679-8T>A
|
rs764913742
|
0.00013
|
NM_003859.3(DPM1):c.*12T>C
|
rs758875594
|
0.00008
|
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)
|
rs776145598
|
0.00008
|
NM_003859.3(DPM1):c.*159A>G
|
rs775290919
|
0.00007
|
NM_003859.3(DPM1):c.261T>A (p.Ile87=)
|
rs774440510
|
0.00007
|
NM_003859.3(DPM1):c.684A>G (p.Pro228=)
|
rs369538517
|
0.00007
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
0.00007
|
NM_003859.3(DPM1):c.261+8A>G
|
rs369077586
|
0.00006
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
0.00006
|
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)
|
rs148674319
|
0.00006
|
NM_003859.3(DPM1):c.456A>G (p.Gly152=)
|
rs370598866
|
0.00005
|
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)
|
rs146935617
|
0.00004
|
NM_003859.3(DPM1):c.161+18C>T
|
rs112688266
|
0.00004
|
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)
|
rs373944766
|
0.00004
|
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)
|
rs754001081
|
0.00004
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
0.00004
|
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)
|
rs376257244
|
0.00004
|
NM_003859.3(DPM1):c.678+9C>T
|
rs749718528
|
0.00004
|
NM_003859.3(DPM1):c.*191A>G
|
rs771510447
|
0.00003
|
NM_003859.3(DPM1):c.161+17C>T
|
rs777976660
|
0.00003
|
NM_003859.3(DPM1):c.171C>T (p.Asn57=)
|
rs755192460
|
0.00003
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)
|
rs1324570980
|
0.00003
|
NM_003859.3(DPM1):c.57G>T (p.Val19=)
|
rs1311416348
|
0.00003
|
NM_003859.3(DPM1):c.9C>G (p.Ser3=)
|
rs150509150
|
0.00003
|
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)
|
rs369939483
|
0.00002
|
NM_003859.3(DPM1):c.296-10T>C
|
rs765027931
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_003859.3(DPM1):c.494+2T>C
|
rs1478040715
|
0.00002
|
NM_003859.3(DPM1):c.494+8C>T
|
rs367586095
|
0.00002
|
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)
|
rs938379512
|
0.00002
|
NM_003859.3(DPM1):c.726A>G (p.Gly242=)
|
rs772092645
|
0.00002
|
NM_003859.3(DPM1):c.162-17A>G
|
rs376823531
|
0.00001
|
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)
|
rs562769511
|
0.00001
|
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)
|
rs1986767219
|
0.00001
|
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)
|
rs750927313
|
0.00001
|
NM_003859.3(DPM1):c.219T>C (p.Asp73=)
|
rs753295960
|
0.00001
|
NM_003859.3(DPM1):c.295+7C>T
|
rs775797102
|
0.00001
|
NM_003859.3(DPM1):c.295+8G>A
|
rs758553918
|
0.00001
|
NM_003859.3(DPM1):c.339C>T (p.Tyr113=)
|
rs749555898
|
0.00001
|
NM_003859.3(DPM1):c.35G>T (p.Arg12Met)
|
rs559291357
|
0.00001
|
NM_003859.3(DPM1):c.373-11T>C
|
rs750138754
|
0.00001
|
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)
|
rs761143591
|
0.00001
|
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)
|
rs727503905
|
0.00001
|
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)
|
rs11553474
|
0.00001
|
NM_003859.3(DPM1):c.563+15T>C
|
rs1285003493
|
0.00001
|
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)
|
rs1324743951
|
0.00001
|
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)
|
rs747972169
|
0.00001
|
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)
|
rs769390268
|
0.00001
|
NM_003859.3(DPM1):c.675C>T (p.Gly225=)
|
rs1414447653
|
0.00001
|
NM_003859.3(DPM1):c.678+4T>G
|
rs948892336
|
0.00001
|
NM_003859.3(DPM1):c.678+8A>G
|
rs771147863
|
0.00001
|
NM_003859.3(DPM1):c.679-12T>A
|
rs1985048219
|
0.00001
|
NM_003859.3(DPM1):c.701G>A (p.Arg234His)
|
rs760322056
|
0.00001
|
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)
|
rs1205339617
|
0.00001
|
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)
|
rs773403940
|
0.00001
|
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)
|
rs748394583
|
0.00001
|
NC_000020.10:g.(?_49507942)_(49576762_?)del
|
|
|
NC_000020.10:g.(?_49557382)_(49558683_?)dup
|
|
|
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
|
|
|
NC_000020.11:g.(?_50934864)_(50958574_?)del
|
|
|
NC_000020.11:g.(?_50940845)_(50942146_?)del
|
|
|
NM_003859.3(DPM1):c.*117A>G
|
rs920558366
|
|
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)
|
rs369939483
|
|
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
|
|
|
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)
|
rs767978019
|
|
NM_003859.3(DPM1):c.117C>T (p.Asn39=)
|
rs1488509110
|
|
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)
|
rs2123155224
|
|
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
|
|
|
NM_003859.3(DPM1):c.123G>T (p.Pro41=)
|
rs762396281
|
|
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)
|
rs769480044
|
|
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
|
|
|
NM_003859.3(DPM1):c.142G>A (p.Val48Met)
|
rs776470942
|
|
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
|
|
|
NM_003859.3(DPM1):c.161+10C>T
|
rs779869066
|
|
NM_003859.3(DPM1):c.161+16_161+21del
|
rs2123154859
|
|
NM_003859.3(DPM1):c.161+20_161+22del
|
|
|
NM_003859.3(DPM1):c.162-3del
|
rs1568774485
|
|
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
|
|
|
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)
|
rs1350257432
|
|
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)
|
rs1986768557
|
|
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
|
|
|
NM_003859.3(DPM1):c.182del (p.Ile61fs)
|
|
|
NM_003859.3(DPM1):c.18C>A (p.Val6=)
|
|
|
NM_003859.3(DPM1):c.18C>G (p.Val6=)
|
rs141104808
|
|
NM_003859.3(DPM1):c.18C>T (p.Val6=)
|
|
|
NM_003859.3(DPM1):c.1A>G (p.Met1Val)
|
rs139624629
|
|
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
|
|
|
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)
|
rs201392536
|
|
NM_003859.3(DPM1):c.232T>C (p.Leu78=)
|
rs1986765330
|
|
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)
|
rs760351795
|
|
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)
|
rs1364834319
|
|
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)
|
rs1986763754
|
|
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)
|
rs17850343
|
|
NM_003859.3(DPM1):c.262-19C>A
|
|
|
NM_003859.3(DPM1):c.262-19C>T
|
|
|
NM_003859.3(DPM1):c.262-9T>C
|
rs759423847
|
|
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
|
|
|
NM_003859.3(DPM1):c.273A>G (p.Pro91=)
|
rs766462970
|
|
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)
|
rs121908583
|
|
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
|
|
|
NM_003859.3(DPM1):c.295+6T>C
|
|
|
NM_003859.3(DPM1):c.295+8G>C
|
rs758553918
|
|
NM_003859.3(DPM1):c.296-14A>C
|
|
|
NM_003859.3(DPM1):c.296-5T>C
|
rs1986258168
|
|
NM_003859.3(DPM1):c.296-9C>A
|
rs1986258505
|
|
NM_003859.3(DPM1):c.296-9C>G
|
rs1986258505
|
|
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)
|
rs755912457
|
|
NM_003859.3(DPM1):c.303A>G (p.Ala101=)
|
rs139211110
|
|
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
|
|
|
NM_003859.3(DPM1):c.30T>C (p.Pro10=)
|
|
|
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)
|
rs1986256273
|
|
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)
|
rs1272097668
|
|
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)
|
rs2123115865
|
|
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
|
|
|
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
|
|
|
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)
|
rs2123115788
|
|
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
|
|
|
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)
|
rs559291357
|
|
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
|
|
|
NM_003859.3(DPM1):c.371A>G (p.His124Arg)
|
rs2123115725
|
|
NM_003859.3(DPM1):c.372+12G>A
|
|
|
NM_003859.3(DPM1):c.373-5T>A
|
rs587777115
|
|
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
|
|
|
NM_003859.3(DPM1):c.384T>C (p.Ile128=)
|
rs1555822595
|
|
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)
|
rs752831768
|
|
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
|
|
|
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
|
|
|
NM_003859.3(DPM1):c.398+20T>C
|
|
|
NM_003859.3(DPM1):c.399-13A>T
|
|
|
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
|
|
|
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
|
|
|
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter)
|
rs753780084
|
|
NM_003859.3(DPM1):c.414T>C (p.Gly138=)
|
rs2123098264
|
|
NM_003859.3(DPM1):c.429C>T (p.Val143=)
|
|
|
NM_003859.3(DPM1):c.42G>T (p.Arg14=)
|
rs2123155781
|
|
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)
|
rs1225648834
|
|
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
|
|
|
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
|
|
|
NM_003859.3(DPM1):c.459T>C (p.Gly153=)
|
rs1985885337
|
|
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
|
|
|
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
|
|
|
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
|
|
|
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)
|
rs77532041
|
|
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
|
|
|
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)
|
rs781115721
|
|
NM_003859.3(DPM1):c.494+16dup
|
|
|
NM_003859.3(DPM1):c.494+7A>G
|
rs1441485408
|
|
NM_003859.3(DPM1):c.494+9A>C
|
rs774832271
|
|
NM_003859.3(DPM1):c.494+9A>G
|
|
|
NM_003859.3(DPM1):c.495-15T>G
|
|
|
NM_003859.3(DPM1):c.495-18G>C
|
|
|
NM_003859.3(DPM1):c.495-1G>T
|
|
|
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)
|
rs547949792
|
|
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)
|
rs1985671191
|
|
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
|
|
|
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
|
|
|
NM_003859.3(DPM1):c.52del (p.Glu18fs)
|
rs759278634
|
|
NM_003859.3(DPM1):c.552A>C (p.Thr184=)
|
rs1985668924
|
|
NM_003859.3(DPM1):c.564-24AT[3]
|
rs759107587
|
|
NM_003859.3(DPM1):c.567A>G (p.Leu189=)
|
rs897083759
|
|
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
|
|
|
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)
|
rs1601016907
|
|
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
|
|
|
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)
|
rs528582693
|
|
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
|
|
|
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)
|
rs760063295
|
|
NM_003859.3(DPM1):c.618C>T (p.Gly206=)
|
|
|
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)
|
rs1036628226
|
|
NM_003859.3(DPM1):c.621C>T (p.Tyr207=)
|
rs1373039485
|
|
NM_003859.3(DPM1):c.628del (p.Gln210fs)
|
rs1568757730
|
|
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
|
|
|
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
|
|
|
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)
|
rs1439856985
|
|
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)
|
rs1197456861
|
|
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)
|
rs2123061416
|
|
NM_003859.3(DPM1):c.658T>C (p.Leu220=)
|
rs17855394
|
|
NM_003859.3(DPM1):c.669T>C (p.Thr223=)
|
rs561078570
|
|
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)
|
rs2123061350
|
|
NM_003859.3(DPM1):c.678+15C>G
|
rs2123061176
|
|
NM_003859.3(DPM1):c.678+18A>C
|
rs2123061147
|
|
NM_003859.3(DPM1):c.678+1G>C
|
rs1985138848
|
|
NM_003859.3(DPM1):c.678+6C>A
|
|
|
NM_003859.3(DPM1):c.678+9C>G
|
rs749718528
|
|
NM_003859.3(DPM1):c.679-12T>G
|
|
|
NM_003859.3(DPM1):c.679-7_679-6insT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTTT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-8dup
|
rs11483542
|
|
NM_003859.3(DPM1):c.679-9_679-8dup
|
|
|
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
|
|
|
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
|
|
|
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
|
|
|
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)
|
rs1985042327
|
|
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)
|
rs2123056867
|
|
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)
|
rs1411036424
|
|
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
|
|
|
NM_003859.3(DPM1):c.702T>C (p.Arg234=)
|
rs2123056796
|
|
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)
|
rs775589720
|
|
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
|
|
|
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)
|
rs1986960670
|
|
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)
|
rs587777114
|
|
NM_003859.3(DPM1):c.768T>C (p.Leu256=)
|
|
|
NM_003859.3(DPM1):c.84G>A (p.Ser28=)
|
rs16995639
|
|
NM_003859.3(DPM1):c.87G>C (p.Val29=)
|
|
|
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
|
|
|
NM_003859.3(DPM1):c.9C>T (p.Ser3=)
|
rs150509150
|
|