NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)
|
rs34491309
|
0.00334
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)
|
rs142999683
|
0.00089
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
NM_001972.4(ELANE):c.431G>A (p.Arg144His)
|
rs142441575
|
0.00020
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)
|
rs138296453
|
0.00018
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
|
rs201421847
|
0.00011
|
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe)
|
rs760792770
|
0.00011
|
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser)
|
rs201587931
|
0.00011
|
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)
|
rs554841002
|
0.00010
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_024598.4(USB1):c.387G>C (p.Leu129=)
|
rs542658449
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)
|
rs782666797
|
0.00006
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)
|
rs369987963
|
0.00006
|
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys)
|
rs180177372
|
0.00006
|
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp)
|
rs148047632
|
0.00006
|
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)
|
rs749751670
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)
|
rs776920896
|
0.00006
|
NM_000377.3(WAS):c.941C>T (p.Pro314Leu)
|
rs782752881
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
NM_000377.3(WAS):c.463+3G>C
|
rs1274245256
|
0.00004
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly)
|
rs554863664
|
0.00004
|
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)
|
rs775151292
|
0.00004
|
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys)
|
rs369891888
|
0.00004
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)
|
rs112858205
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)
|
rs374298481
|
0.00004
|
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)
|
rs544366805
|
0.00004
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_003467.3(CXCR4):c.250G>C (p.Asp84His)
|
rs368016542
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_024598.4(USB1):c.1A>G (p.Met1Val)
|
rs760648279
|
0.00003
|
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)
|
rs1044976516
|
0.00003
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
NM_000377.3(WAS):c.802C>T (p.Arg268Trp)
|
rs782149318
|
0.00002
|
NM_000377.3(WAS):c.975G>C (p.Gln325His)
|
rs930931192
|
0.00002
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu)
|
rs1424373279
|
0.00002
|
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)
|
rs770306507
|
0.00002
|
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)
|
rs780614125
|
0.00002
|
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)
|
rs782225422
|
0.00002
|
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr)
|
rs144187978
|
0.00002
|
NM_024598.4(USB1):c.111C>T (p.Pro37=)
|
rs767672950
|
0.00002
|
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)
|
rs753703762
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser)
|
rs145899918
|
0.00002
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
NM_152564.5(VPS13B):c.9742+2dup
|
rs770968105
|
0.00002
|
NM_000081.4(LYST):c.5578A>G (p.Met1860Val)
|
rs368738466
|
0.00001
|
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile)
|
rs757494655
|
0.00001
|
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)
|
rs895243178
|
0.00001
|
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)
|
rs782602857
|
0.00001
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
NM_000377.3(WAS):c.946C>A (p.Pro316Thr)
|
rs372779500
|
0.00001
|
NM_000377.3(WAS):c.962G>A (p.Arg321Gln)
|
rs782802310
|
0.00001
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)
|
rs756112245
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)
|
rs1348750495
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr)
|
rs759972908
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val)
|
rs1222718209
|
0.00001
|
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)
|
rs771021187
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser)
|
rs1326406012
|
0.00001
|
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu)
|
rs1824580005
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val)
|
rs765664729
|
0.00001
|
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His)
|
rs555559192
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_183235.3(RAB27A):c.149del (p.Arg50fs)
|
rs770601673
|
0.00001
|
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)
|
rs755338751
|
0.00001
|
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
|
|
|
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
|
|
|
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
|
|
|
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2363+7A>T
|
|
|
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
|
|
|
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
|
|
|
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
|
|
|
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
|
|
|
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
|
|
|
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
|
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
|
|
|
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
|
|
|
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
NM_000081.4(LYST):c.7461-11_7461-9del
|
rs777633676
|
|
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
|
|
|
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
|
|
|
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
|
|
|
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
|
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup)
|
rs2062430236
|
|
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly)
|
rs2062432588
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)
|
rs797044476
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.619G>C (p.Val207Leu)
|
rs2035674003
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)
|
rs104893626
|
|
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)
|
rs1573613529
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
|
rs147761913
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_007259.5(VPS45):c.739A>G (p.Ile247Val)
|
rs1553799320
|
|
NM_024598.4(USB1):c.63del (p.Met22fs)
|
rs747958554
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala)
|
rs779218452
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe)
|
rs1373068816
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)
|
rs373961820
|
|