NM_020661.4(AICDA):c.*1137A>G
|
rs867594346
|
0.05656
|
NM_006947.4(SRP72):c.*606A>T
|
rs868279024
|
0.05397
|
NM_000639.3(FASLG):c.*612T>A
|
rs868507856
|
0.05258
|
NM_001378373.1(MBL2):c.*1135A>G
|
rs11595876
|
0.04693
|
NM_003721.4(RFXANK):c.213C>T (p.Thr71=)
|
rs72997200
|
0.04571
|
NM_001378373.1(MBL2):c.*1711T>G
|
rs12254557
|
0.04213
|
NM_020661.4(AICDA):c.*1136A>G
|
rs371020938
|
0.03107
|
NM_133459.4(CCBE1):c.*2951_*2952insC
|
rs33911880
|
0.02939
|
NM_000073.3(CD3G):c.*308G>A
|
rs73018291
|
0.02465
|
NM_005914.3(MCM4):c.-253C>T
|
rs17334305
|
0.02181
|
NM_001378373.1(MBL2):c.408C>T (p.Asn136=)
|
rs35805975
|
0.02062
|
NM_001378373.1(MBL2):c.*865A>C
|
rs55714260
|
0.01839
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_020661.4(AICDA):c.*1453_*1454insG
|
rs201738977
|
0.01403
|
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
|
rs9904366
|
0.01403
|
NM_000243.3(MEFV):c.*845C>T
|
rs371608683
|
0.01225
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)
|
rs4151031
|
0.01070
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000246.4(CIITA):c.*261C>T
|
rs45447897
|
0.01013
|
NM_006949.4(STXBP2):c.849G>A (p.Glu283=)
|
rs34450592
|
0.00997
|
NM_000136.3(FANCC):c.*96A>G
|
rs55687573
|
0.00893
|
NM_006432.5(NPC2):c.*295C>G
|
rs113587712
|
0.00892
|
NM_001378373.1(MBL2):c.*1134C>T
|
rs11003121
|
0.00880
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_001375808.2(LPIN2):c.*438C>T
|
rs150379164
|
0.00868
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_001378373.1(MBL2):c.*2702G>A
|
rs114932753
|
0.00736
|
NM_003764.4(STX11):c.*1825C>T
|
rs72992192
|
0.00722
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_000246.4(CIITA):c.*103T>C
|
rs45617532
|
0.00711
|
NM_006846.4(SPINK5):c.*358A>G
|
rs527953668
|
0.00689
|
NM_012092.4(ICOS):c.*995C>T
|
rs190590580
|
0.00677
|
NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn)
|
rs61735593
|
0.00658
|
NM_000271.5(NPC1):c.*309_*315del
|
rs145236115
|
0.00648
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_018344.6(SLC29A3):c.*379A>G
|
rs6650127
|
0.00646
|
NM_000051.4(ATM):c.*236C>T
|
rs3092834
|
0.00640
|
NC_000016.10:g.23641315C>G
|
rs138200248
|
0.00631
|
NM_006929.4(SKIC2):c.-280G>T
|
rs182142262
|
0.00631
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_000243.3(MEFV):c.*639G>A
|
rs181380218
|
0.00614
|
NM_000215.4(JAK3):c.*73T>C
|
rs149873298
|
0.00605
|
NM_012092.4(ICOS):c.*1094C>T
|
rs144036725
|
0.00599
|
NM_006610.4(MASP2):c.*189G>A
|
rs116311214
|
0.00581
|
NM_133459.4(CCBE1):c.*1992A>T
|
rs61687734
|
0.00581
|
NM_022725.4(FANCF):c.*1879T>C
|
rs45553340
|
0.00575
|
NM_032043.3(BRIP1):c.*3489T>C
|
rs140891191
|
0.00554
|
NM_001378373.1(MBL2):c.*1694G>T
|
rs35327474
|
0.00547
|
NM_001378373.1(MBL2):c.*1136A>G
|
rs115639140
|
0.00540
|
NM_001814.6(CTSC):c.319-15C>T
|
rs45539936
|
0.00539
|
NM_000243.3(MEFV):c.*701G>A
|
rs368896227
|
0.00516
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_000081.4(LYST):c.-5C>T
|
rs141317482
|
0.00475
|
NM_000063.6(C2):c.2200C>T (p.Arg734Cys)
|
rs4151648
|
0.00474
|
NM_012275.3(IL36RN):c.*1995T>C
|
rs28938782
|
0.00468
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_000733.4(CD3E):c.*98_*101dup
|
rs193922618
|
0.00450
|
NM_000246.4(CIITA):c.-84C>T
|
rs45519531
|
0.00447
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_000538.3(RFXAP):c.*1826delT
|
rs142735439
|
0.00435
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_005633.4(SOS1):c.*3451A>T
|
rs78411167
|
0.00429
|
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)
|
rs142105943
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_002185.5(IL7R):c.*1974A>G
|
rs145691961
|
0.00411
|
NM_014339.7(IL17RA):c.*4516C>T
|
rs180834857
|
0.00407
|
NM_183235.3(RAB27A):c.*1863C>T
|
rs566144766
|
0.00405
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
NM_183235.3(RAB27A):c.*1878T>C
|
rs552625680
|
0.00389
|
NM_001378373.1(MBL2):c.*2450A>T
|
rs56325023
|
0.00387
|
NM_001558.4(IL10RA):c.*1555C>T
|
rs182393130
|
0.00386
|
NM_018389.5(SLC35C1):c.-88T>G
|
rs546865255
|
0.00386
|
NM_000063.6(C2):c.443-4G>A
|
rs9332719
|
0.00380
|
NM_001378373.1(MBL2):c.*2727G>T
|
rs138449358
|
0.00372
|
NM_005633.4(SOS1):c.*758A>T
|
rs182650589
|
0.00372
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_000243.3(MEFV):c.*74C>T
|
rs11466050
|
0.00365
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000361.3(THBD):c.*1469C>T
|
rs3176124
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_012092.4(ICOS):c.*1300C>T
|
rs181937379
|
0.00360
|
NM_032043.3(BRIP1):c.*4040T>A
|
rs111580456
|
0.00356
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000639.3(FASLG):c.*608T>A
|
rs867998396
|
0.00352
|
NM_000243.3(MEFV):c.*1029G>C
|
rs142648477
|
0.00351
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_012092.4(ICOS):c.58+9T>G
|
rs140049646
|
0.00348
|
NM_018389.5(SLC35C1):c.-653C>T
|
rs150274138
|
0.00348
|
NM_000246.4(CIITA):c.*414T>C
|
rs141707720
|
0.00346
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_002880.4(RAF1):c.*190G>A
|
rs528863135
|
0.00335
|
NM_000733.4(CD3E):c.*196C>G
|
rs116370847
|
0.00330
|
NM_001025603.2(RFX5):c.*1520_*1521insATT
|
rs529662057
|
0.00330
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_001033855.3(DCLRE1C):c.*551G>A
|
rs373280996
|
0.00327
|
NM_022725.4(FANCF):c.*708C>T
|
rs61889392
|
0.00321
|
NM_005633.4(SOS1):c.*1309A>G
|
rs145273962
|
0.00319
|
NM_001083116.3(PRF1):c.-109G>A
|
rs114178404
|
0.00317
|
NM_001375808.2(LPIN2):c.*806C>T
|
rs144349249
|
0.00316
|
NM_002693.3(POLG):c.3644-72C>A
|
rs1801377
|
0.00312
|
NM_003764.4(STX11):c.*1463C>T
|
rs191132625
|
0.00308
|
NM_005633.4(SOS1):c.*1303C>A
|
rs115153488
|
0.00308
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
NM_002834.5(PTPN11):c.*325G>A
|
rs192080780
|
0.00304
|
NM_000628.5(IL10RB):c.*816T>C
|
rs118117891
|
0.00298
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_003839.4(TNFRSF11A):c.*1368C>T
|
rs12721434
|
0.00291
|
NM_001378373.1(MBL2):c.*2207G>A
|
rs191761980
|
0.00290
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_133459.4(CCBE1):c.*4173A>G
|
rs150040471
|
0.00289
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_001083116.3(PRF1):c.*46T>C
|
rs140956842
|
0.00284
|
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
NM_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_020661.4(AICDA):c.*446G>A
|
rs104894982
|
0.00275
|
NM_001375808.2(LPIN2):c.-10+1206A>T
|
rs112648131
|
0.00272
|
NM_020661.4(AICDA):c.428-4_428-3insT
|
rs755095913
|
0.00272
|
NM_000073.3(CD3G):c.79+10A>G
|
rs115851096
|
0.00266
|
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile)
|
rs202144980
|
0.00264
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
NM_000448.3(RAG1):c.*1101G>A
|
rs145963034
|
0.00261
|
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)
|
rs373828157
|
0.00260
|
NM_000448.3(RAG1):c.-114G>A
|
rs872052
|
0.00259
|
NM_001370466.1(NOD2):c.*873C>T
|
rs373812846
|
0.00255
|
NM_133459.4(CCBE1):c.*3140G>T
|
rs189149568
|
0.00249
|
NM_001033855.3(DCLRE1C):c.*1394C>T
|
rs75676336
|
0.00248
|
NM_002185.5(IL7R):c.*2413T>G
|
rs192345351
|
0.00247
|
NM_015474.4(SAMHD1):c.*240G>A
|
rs143588093
|
0.00244
|
NM_000051.4(ATM):c.*3136A>G
|
rs3092845
|
0.00242
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_000246.4(CIITA):c.*927G>A
|
rs45538933
|
0.00239
|
NM_000211.5(ITGB2):c.525C>T (p.Thr175=)
|
rs200134130
|
0.00236
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_000211.5(ITGB2):c.*168G>T
|
rs755328937
|
0.00233
|
NM_005633.4(SOS1):c.*4023T>C
|
rs1043800
|
0.00233
|
NM_032193.4(RNASEH2C):c.*1699G>C
|
rs149989742
|
0.00233
|
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_001378373.1(MBL2):c.*447G>C
|
rs374583038
|
0.00228
|
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)
|
rs141560248
|
0.00227
|
NM_005633.4(SOS1):c.*3416_*3417del
|
rs200892895
|
0.00226
|
NM_005914.3(MCM4):c.-205C>T
|
rs17287526
|
0.00226
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_133459.4(CCBE1):c.*203A>G
|
rs529266103
|
0.00226
|
NM_001018115.3(FANCD2):c.4281+398G>C
|
rs34092072
|
0.00225
|
NM_000136.3(FANCC):c.*450G>A
|
rs149227790
|
0.00224
|
NM_033629.4(TREX1):c.-127G>C
|
rs577465983
|
0.00222
|
NM_133459.4(CCBE1):c.*2080C>T
|
rs181336531
|
0.00222
|
NM_012275.3(IL36RN):c.6C>T (p.Val2=)
|
rs28938771
|
0.00221
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_152564.5(VPS13B):c.*61G>A
|
rs189939258
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_001375808.2(LPIN2):c.-10+1256G>A
|
rs181504392
|
0.00215
|
NM_012275.3(IL36RN):c.*1866T>C
|
rs72946731
|
0.00214
|
NM_001378373.1(MBL2):c.*1498C>T
|
rs56009657
|
0.00213
|
NM_014339.7(IL17RA):c.*2844A>G
|
rs144892452
|
0.00213
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_133459.4(CCBE1):c.*2297_*2298insT
|
rs886054053
|
0.00211
|
NM_000136.3(FANCC):c.*2524G>A
|
rs56199232
|
0.00208
|
NM_005914.3(MCM4):c.-745_-744delAA
|
rs530578769
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_014339.7(IL17RA):c.30T>A (p.Ala10=)
|
rs577217331
|
0.00204
|
NM_152564.5(VPS13B):c.*1355T>G
|
rs562826355
|
0.00204
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
NM_018389.5(SLC35C1):c.*1322A>G
|
rs148127105
|
0.00203
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_000211.5(ITGB2):c.162G>A (p.Pro54=)
|
rs138303556
|
0.00201
|
NM_000215.4(JAK3):c.108G>C (p.Gly36=)
|
rs149701114
|
0.00201
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
NM_001025603.2(RFX5):c.*838A>G
|
rs552790524
|
0.00197
|
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=)
|
rs138295148
|
0.00197
|
NM_182746.3(MCM4):c.*842G>A
|
rs17287781
|
0.00196
|
NM_203447.4(DOCK8):c.4024-4C>T
|
rs111306749
|
0.00196
|
NM_001083116.3(PRF1):c.*521C>A
|
rs193221010
|
0.00194
|
NM_001033855.3(DCLRE1C):c.*555A>G
|
rs568873828
|
0.00189
|
NM_182746.3(MCM4):c.961C>T (p.Arg321Cys)
|
rs142732823
|
0.00188
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_012092.4(ICOS):c.*1854G>A
|
rs140979765
|
0.00184
|
NM_001370466.1(NOD2):c.*89C>T
|
rs184545855
|
0.00183
|
NM_016123.4(IRAK4):c.*520T>A
|
rs4251550
|
0.00183
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_003764.4(STX11):c.*179A>G
|
rs551983948
|
0.00182
|
NM_005914.3(MCM4):c.-453T>C
|
rs539732672
|
0.00181
|
NM_001372051.1(CASP8):c.*316C>T
|
rs35419671
|
0.00178
|
NM_018389.5(SLC35C1):c.-633T>G
|
rs566857902
|
0.00177
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_000431.4(MVK):c.*332C>T
|
rs574536495
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_172351.3(CD46):c.285T>C (p.Tyr95=)
|
rs112089594
|
0.00175
|
NM_002693.3(POLG):c.3644-184T>C
|
rs115758754
|
0.00173
|
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)
|
rs139391329
|
0.00173
|
NM_001378373.1(MBL2):c.*1819T>C
|
rs774307463
|
0.00171
|
NM_000431.4(MVK):c.*601G>A
|
rs536969522
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)
|
rs142860816
|
0.00168
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_024570.4(RNASEH2B):c.*246A>G
|
rs147825612
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_001142279.2(RNASEH2B):c.-399C>G
|
rs553965425
|
0.00165
|
NM_003721.4(RFXANK):c.765G>A (p.Val255=)
|
rs113406972
|
0.00165
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_002524.5(NRAS):c.*2523A>G
|
rs143441947
|
0.00163
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_133459.4(CCBE1):c.*2728A>G
|
rs150355335
|
0.00163
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_001083116.3(PRF1):c.*376G>A
|
rs191816002
|
0.00161
|
NM_003331.5(TYK2):c.*120C>T
|
rs556369340
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_133459.4(CCBE1):c.*1463del
|
rs763605982
|
0.00156
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_022725.4(FANCF):c.*1440A>G
|
rs191742011
|
0.00155
|
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser)
|
rs104895425
|
0.00152
|
NM_006947.4(SRP72):c.*221A>G
|
rs149250989
|
0.00152
|
NM_183235.3(RAB27A):c.-93G>T
|
rs181491869
|
0.00151
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000355.4(TCN2):c.-98T>G
|
rs370882214
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_016123.4(IRAK4):c.*1753C>T
|
rs558662153
|
0.00149
|
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)
|
rs142915569
|
0.00148
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000222.3(KIT):c.*252G>T
|
rs376694515
|
0.00148
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)
|
rs139113046
|
0.00148
|
NM_014140.4(SMARCAL1):c.-141G>A
|
rs542884297
|
0.00148
|
NM_001375808.2(LPIN2):c.*100G>A
|
rs564971189
|
0.00147
|
NM_000136.3(FANCC):c.*1483T>C
|
rs552548603
|
0.00146
|
NM_006397.3(RNASEH2A):c.-49C>T
|
rs375281767
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_002524.5(NRAS):c.*3404T>C
|
rs185234485
|
0.00145
|
NM_016123.4(IRAK4):c.*1588G>A
|
rs778083287
|
0.00145
|
NM_000271.5(NPC1):c.-100C>G
|
rs553740667
|
0.00144
|
NM_000215.4(JAK3):c.*653T>A
|
rs886054274
|
0.00143
|
NM_000051.4(ATM):c.*2866T>C
|
rs191399133
|
0.00142
|
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)
|
rs146425381
|
0.00142
|
NM_024675.4(PALB2):c.*232G>T
|
rs180748355
|
0.00141
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)
|
rs74754826
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_199242.3(UNC13D):c.*621C>T
|
rs181467869
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_015474.4(SAMHD1):c.*505T>A
|
rs747128919
|
0.00139
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_133459.4(CCBE1):c.*4799G>A
|
rs187448235
|
0.00137
|
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)
|
rs149918318
|
0.00136
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000639.3(FASLG):c.*600G>T
|
rs886045574
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=)
|
rs139218809
|
0.00132
|
NM_002185.5(IL7R):c.*2294C>G
|
rs563733521
|
0.00132
|
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)
|
rs190657753
|
0.00132
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_001375808.2(LPIN2):c.*251C>T
|
rs563023966
|
0.00131
|
NM_001558.4(IL10RA):c.*866C>A
|
rs145605428
|
0.00130
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
NM_139027.6(ADAMTS13):c.1245-3C>T
|
rs36219902
|
0.00130
|
NM_001065.4(TNFRSF1A):c.*178C>T
|
rs186356476
|
0.00129
|
NM_001250.6(CD40):c.*547A>T
|
rs184942163
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_016123.4(IRAK4):c.*2198T>C
|
rs563217241
|
0.00129
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_000271.5(NPC1):c.*494G>T
|
rs201277520
|
0.00128
|
NM_000355.4(TCN2):c.*381T>G
|
rs149713328
|
0.00128
|
NM_001770.6(CD19):c.1580-4C>A
|
rs148808609
|
0.00128
|
NM_002351.5(SH2D1A):c.*862T>A
|
rs774701387
|
0.00127
|
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr)
|
rs139059968
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)
|
rs62640040
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000073.3(CD3G):c.-17G>T
|
rs145293635
|
0.00124
|
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)
|
rs141202424
|
0.00124
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
NM_004985.5(KRAS):c.-160A>G
|
rs727503111
|
0.00124
|
NM_001372051.1(CASP8):c.*107C>T
|
rs184368293
|
0.00123
|
NM_012092.4(ICOS):c.*1137C>T
|
rs531066269
|
0.00123
|
NM_014339.7(IL17RA):c.*821C>T
|
rs181804525
|
0.00123
|
NM_014339.7(IL17RA):c.1407C>T (p.Cys469=)
|
rs41396346
|
0.00122
|
NM_203447.4(DOCK8):c.-58C>T
|
rs144097790
|
0.00122
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
NM_144687.3(NLRP12):c.-143C>A
|
rs190223587
|
0.00121
|
NM_033360.4(KRAS):c.*986T>C
|
rs559143985
|
0.00120
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_080911.3(UNG):c.*699T>C
|
rs762462658
|
0.00119
|
NM_203447.4(DOCK8):c.*1014T>C
|
rs530493285
|
0.00119
|
NM_000064.4(C3):c.2067G>A (p.Glu689=)
|
rs147477257
|
0.00118
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_000417.3(IL2RA):c.*471G>A
|
rs553112485
|
0.00118
|
NM_001167.4(XIAP):c.*1904G>A
|
rs751700391
|
0.00118
|
NM_000215.4(JAK3):c.*404G>A
|
rs200207634
|
0.00117
|
NM_016123.4(IRAK4):c.-66G>A
|
rs570128219
|
0.00117
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
NM_016123.4(IRAK4):c.-65C>A
|
rs537056241
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_182746.3(MCM4):c.*387T>C
|
rs144432703
|
0.00116
|
NM_000543.5(SMPD1):c.*83A>G
|
rs138499616
|
0.00115
|
NM_006929.4(SKIC2):c.-249C>G
|
rs546698443
|
0.00115
|
NM_001375808.2(LPIN2):c.*903T>A
|
rs78462116
|
0.00114
|
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr)
|
rs145484343
|
0.00114
|
NM_000215.4(JAK3):c.*1833G>A
|
rs546293977
|
0.00113
|
NM_000417.3(IL2RA):c.*1041C>T
|
rs141524746
|
0.00113
|
NM_003764.4(STX11):c.*4345G>A
|
rs180819010
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_032193.4(RNASEH2C):c.*1594G>A
|
rs761492773
|
0.00113
|
NM_133459.4(CCBE1):c.*1021T>A
|
rs573115978
|
0.00113
|
NM_183235.3(RAB27A):c.*370T>C
|
rs144322660
|
0.00112
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_001375808.2(LPIN2):c.*1418G>A
|
rs552844041
|
0.00111
|
NM_002185.5(IL7R):c.*2065G>A
|
rs541801251
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_003331.5(TYK2):c.1869C>T (p.Asp623=)
|
rs140078545
|
0.00110
|
NM_032193.4(RNASEH2C):c.*317C>T
|
rs549238084
|
0.00110
|
NM_206937.2(LIG4):c.*736C>G
|
rs201529988
|
0.00110
|
NM_005546.4(ITK):c.1276C>T (p.Leu426=)
|
rs145991142
|
0.00109
|
NM_018389.5(SLC35C1):c.*647T>C
|
rs372196593
|
0.00109
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_033360.4(KRAS):c.*3766A>G
|
rs529959450
|
0.00108
|
NM_152564.5(VPS13B):c.*202T>A
|
rs201566966
|
0.00108
|
NM_182746.3(MCM4):c.*56G>A
|
rs375801965
|
0.00108
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_000063.6(C2):c.1414G>A (p.Ala472Thr)
|
rs142243595
|
0.00105
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000448.3(RAG1):c.*238G>A
|
rs4151035
|
0.00105
|
NM_000448.3(RAG1):c.*420T>C
|
rs4151037
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=)
|
rs140134223
|
0.00105
|
NM_203447.4(DOCK8):c.550G>A (p.Val184Met)
|
rs143461644
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_032977.4(CASP10):c.*480A>G
|
rs539196058
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_016123.4(IRAK4):c.*2817A>G
|
rs4251564
|
0.00103
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
NM_000543.5(SMPD1):c.*272G>C
|
rs528743699
|
0.00102
|
NM_003764.4(STX11):c.*4250C>T
|
rs529195967
|
0.00101
|
NM_005546.4(ITK):c.*1767C>A
|
rs184917807
|
0.00101
|
NM_000271.5(NPC1):c.-110C>T
|
rs373558305
|
0.00100
|
NM_001079.4(ZAP70):c.1737-3C>T
|
rs56249179
|
0.00100
|
NM_002524.5(NRAS):c.*2805T>C
|
rs776606789
|
0.00100
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
NM_006206.6(PDGFRA):c.*534A>G
|
rs566508858
|
0.00099
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
NM_080911.3(UNG):c.*109A>G
|
rs533948770
|
0.00098
|
NM_001033855.3(DCLRE1C):c.*179G>A
|
rs188107018
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000136.3(FANCC):c.*667C>T
|
rs150462386
|
0.00096
|
NM_000215.4(JAK3):c.2079C>T (p.Pro693=)
|
rs145377049
|
0.00096
|
NM_000448.3(RAG1):c.*370G>T
|
rs569692485
|
0.00096
|
NM_002185.5(IL7R):c.*1702A>C
|
rs147528974
|
0.00096
|
NM_002185.5(IL7R):c.*695C>A
|
rs11567768
|
0.00096
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
NM_000448.3(RAG1):c.*739C>T
|
rs4151039
|
0.00095
|
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)
|
rs143320460
|
0.00095
|
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=)
|
rs55997284
|
0.00094
|
NM_001770.6(CD19):c.395T>G (p.Leu132Arg)
|
rs146795664
|
0.00093
|
NM_003331.5(TYK2):c.2250C>T (p.Gly750=)
|
rs138652649
|
0.00093
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_032043.3(BRIP1):c.*2337A>T
|
rs373664066
|
0.00093
|
NM_002351.4(SH2D1A):c.-124T>A
|
rs148700291
|
0.00092
|
NM_005546.4(ITK):c.*140C>T
|
rs536343015
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_001065.4(TNFRSF1A):c.*263C>T
|
rs201376255
|
0.00091
|
NM_001558.4(IL10RA):c.*1147C>T
|
rs527246428
|
0.00091
|
NM_002524.5(NRAS):c.*2513T>A
|
rs150969241
|
0.00091
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_138387.4(G6PC3):c.*97G>C
|
rs565305947
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000135.4(FANCA):c.*172G>A
|
rs577149121
|
0.00090
|
NM_000243.3(MEFV):c.*1008A>G
|
rs1305464681
|
0.00090
|
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)
|
rs5743269
|
0.00090
|
NM_014339.7(IL17RA):c.*1066C>T
|
rs75870648
|
0.00090
|
NM_016123.4(IRAK4):c.*1876G>A
|
rs528687727
|
0.00090
|
NM_032043.3(BRIP1):c.*3188G>A
|
rs369850537
|
0.00090
|
NM_199242.3(UNC13D):c.99G>A (p.Pro33=)
|
rs147886860
|
0.00090
|
NM_000051.4(ATM):c.*3198T>G
|
rs764033869
|
0.00089
|
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)
|
rs151046132
|
0.00089
|
NM_005633.4(SOS1):c.*534C>T
|
rs773935049
|
0.00089
|
NM_032043.3(BRIP1):c.*132G>A
|
rs143361598
|
0.00089
|
NM_173842.3(IL1RN):c.*644del
|
rs757094565
|
0.00089
|
NM_199242.2(UNC13D):c.-229C>G
|
rs569893312
|
0.00089
|
NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
|
rs141791080
|
0.00088
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00088
|
NM_014339.7(IL17RA):c.465G>C (p.Gln155His)
|
rs142199303
|
0.00088
|
NM_001378373.1(MBL2):c.132C>T (p.Asn44=)
|
rs34120190
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000135.4(FANCA):c.*843C>T
|
rs201316239
|
0.00086
|
NM_000271.5(NPC1):c.*94G>A
|
rs573009552
|
0.00086
|
NM_001079.4(ZAP70):c.1624-12C>T
|
rs201487332
|
0.00086
|
NM_002435.3(MPI):c.*312T>A
|
rs545401402
|
0.00086
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)
|
rs147238010
|
0.00084
|
NM_001167.4(XIAP):c.*870G>C
|
rs185823003
|
0.00084
|
NM_001770.6(CD19):c.147G>A (p.Gln49=)
|
rs140445039
|
0.00084
|
NM_000064.4(C3):c.4767G>A (p.Lys1589=)
|
rs144589541
|
0.00083
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
NM_001369369.1(FOXN1):c.*454A>C
|
rs192432126
|
0.00083
|
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)
|
rs56143179
|
0.00083
|
NM_203447.4(DOCK8):c.*99G>A
|
rs554634853
|
0.00083
|
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val)
|
rs117028614
|
0.00082
|
NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)
|
rs142570561
|
0.00082
|
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_001025603.2(RFX5):c.-91G>A
|
rs555635380
|
0.00081
|
NM_001079.4(ZAP70):c.-133C>T
|
rs201616095
|
0.00081
|
NM_001372051.1(CASP8):c.1304+12C>T
|
rs375465590
|
0.00081
|
NM_005045.4(RELN):c.*82T>C
|
rs781050842
|
0.00081
|
NM_020661.4(AICDA):c.*67C>T
|
rs149095678
|
0.00081
|
NM_000246.4(CIITA):c.1068G>A (p.Pro356=)
|
rs140486686
|
0.00080
|
NM_001018115.3(FANCD2):c.1656+14T>A
|
rs200473919
|
0.00080
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_006610.4(MASP2):c.828C>G (p.Ile276Met)
|
rs149800848
|
0.00080
|
NM_012092.4(ICOS):c.*1948G>T
|
rs777338223
|
0.00080
|
NM_012275.3(IL36RN):c.*581C>G
|
rs28938779
|
0.00080
|
NM_003839.4(TNFRSF11A):c.*2564A>G
|
rs555211772
|
0.00079
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
NM_000448.3(RAG1):c.*1130A>G
|
rs554469239
|
0.00078
|
NM_014140.4(SMARCAL1):c.2528+15G>A
|
rs200879397
|
0.00078
|
NM_014339.7(IL17RA):c.*627G>A
|
rs771009907
|
0.00078
|
NM_016123.4(IRAK4):c.291G>A (p.Ala97=)
|
rs17851028
|
0.00078
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)
|
rs144808448
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln)
|
rs143417982
|
0.00078
|
NM_000136.3(FANCC):c.*983C>T
|
rs56059656
|
0.00077
|
NM_020529.3(NFKBIA):c.*366G>A
|
rs552418731
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000059.4(BRCA2):c.*753C>T
|
rs190094748
|
0.00076
|
NM_001558.4(IL10RA):c.*1684G>A
|
rs143719655
|
0.00076
|
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=)
|
rs150551465
|
0.00076
|
NM_003764.4(STX11):c.26T>G (p.Leu9Arg)
|
rs34470310
|
0.00076
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
NM_014339.7(IL17RA):c.*4359T>C
|
rs573003907
|
0.00076
|
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val)
|
rs139066012
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)
|
rs146393315
|
0.00075
|
NM_000215.4(JAK3):c.1551T>A (p.Pro517=)
|
rs143936463
|
0.00075
|
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_148919.4(PSMB8):c.*8G>A
|
rs376750959
|
0.00074
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
NM_000178.4(GSS):c.1158G>A (p.Leu386=)
|
rs141866304
|
0.00073
|
NM_000178.4(GSS):c.816T>G (p.Pro272=)
|
rs35051256
|
0.00073
|
NM_001033855.3(DCLRE1C):c.*1186T>G
|
rs558392829
|
0.00073
|
NM_002880.4(RAF1):c.-201C>A
|
rs532668125
|
0.00073
|
NM_003764.4(STX11):c.681C>T (p.Leu227=)
|
rs145774130
|
0.00073
|
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn)
|
rs201402594
|
0.00073
|
NM_006947.4(SRP72):c.*194G>A
|
rs188713088
|
0.00073
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
NM_033360.4(KRAS):c.*1826C>G
|
rs539213224
|
0.00073
|
NM_052945.4(TNFRSF13C):c.368-15C>A
|
rs372331667
|
0.00073
|
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)
|
rs151243201
|
0.00073
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=)
|
rs147112200
|
0.00073
|
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu)
|
rs144852879
|
0.00073
|
NM_000271.5(NPC1):c.*202C>T
|
rs535059744
|
0.00072
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
NM_001033855.3(DCLRE1C):c.*1215C>T
|
rs532698576
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000431.4(MVK):c.*75T>G
|
rs138924471
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)
|
rs41299658
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_012092.4(ICOS):c.*1416G>T
|
rs56259923
|
0.00071
|
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)
|
rs55853041
|
0.00071
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_001033855.3(DCLRE1C):c.*1280C>T
|
rs554974498
|
0.00070
|
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu)
|
rs886054082
|
0.00070
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_199242.3(UNC13D):c.1389+12G>A
|
rs199536082
|
0.00070
|
NM_203447.4(DOCK8):c.541C>G (p.His181Asp)
|
rs200684000
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000543.5(SMPD1):c.1340+12A>T
|
rs140221837
|
0.00069
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_001770.6(CD19):c.836-13C>G
|
rs371868433
|
0.00069
|
NM_003764.4(STX11):c.*1338C>T
|
rs886061149
|
0.00069
|
NM_012275.3(IL36RN):c.*1849T>A
|
rs554682838
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)
|
rs146054564
|
0.00068
|
NM_003764.4(STX11):c.*1028C>A
|
rs765087978
|
0.00068
|
NM_003764.4(STX11):c.*295G>A
|
rs573209024
|
0.00068
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_152564.5(VPS13B):c.*831C>T
|
rs547185676
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
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_018389.4(SLC35C1):c.-657C>A
|
rs550333679
|
0.00067
|
NM_000417.3(IL2RA):c.*1044T>C
|
rs572589682
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_005546.4(ITK):c.*804T>C
|
rs139794260
|
0.00066
|
NM_000433.4(NCF2):c.*517dup
|
rs573207861
|
0.00065
|
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)
|
rs137872361
|
0.00065
|
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)
|
rs146286958
|
0.00064
|
NM_001375808.2(LPIN2):c.*1027G>A
|
rs551503883
|
0.00064
|
NM_002834.5(PTPN11):c.-77G>A
|
rs766412799
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln)
|
rs180696183
|
0.00064
|
NM_012092.4(ICOS):c.375A>G (p.Gly125=)
|
rs768500706
|
0.00064
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=)
|
rs148365271
|
0.00064
|
NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)
|
rs144178018
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000448.3(RAG1):c.*834dup
|
rs745747958
|
0.00063
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_003764.4(STX11):c.*549C>T
|
rs559556869
|
0.00063
|
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)
|
rs143981111
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_199242.3(UNC13D):c.858+12A>C
|
rs191712530
|
0.00063
|
NM_000051.4(ATM):c.*521del
|
rs886047615
|
0.00062
|
NM_002834.5(PTPN11):c.*799G>A
|
rs745319452
|
0.00062
|
NM_021922.3(FANCE):c.-126T>A
|
rs930863473
|
0.00062
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_001378373.1(MBL2):c.*1995del
|
rs751460283
|
0.00061
|
NM_002693.3(POLG):c.*63A>G
|
rs552236933
|
0.00061
|
NM_006610.4(MASP2):c.383C>T (p.Thr128Met)
|
rs141145402
|
0.00061
|
NM_006610.4(MASP2):c.395C>T (p.Ala132Val)
|
rs144632025
|
0.00061
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_203447.4(DOCK8):c.5962-8C>T
|
rs749575443
|
0.00061
|
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)
|
rs143239201
|
0.00060
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_000733.4(CD3E):c.408G>A (p.Val136=)
|
rs143868906
|
0.00059
|
NM_001430.5(EPAS1):c.*833G>A
|
rs539023852
|
0.00059
|
NM_005633.4(SOS1):c.*559C>T
|
rs572880679
|
0.00059
|
NM_005914.3(MCM4):c.-479A>G
|
rs571102789
|
0.00059
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
NM_182746.3(MCM4):c.*955A>G
|
rs529512295
|
0.00059
|
NM_199242.2(UNC13D):c.-332G>A
|
rs560759175
|
0.00059
|
NM_199242.3(UNC13D):c.1174-15C>G
|
rs374069629
|
0.00059
|
NM_000064.4(C3):c.1898A>G (p.Lys633Arg)
|
rs140655115
|
0.00058
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000536.4(RAG2):c.1198G>C (p.Asp400His)
|
rs140682926
|
0.00058
|
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu)
|
rs150072792
|
0.00058
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_002524.5(NRAS):c.*2618A>G
|
rs528439389
|
0.00058
|
NM_006206.6(PDGFRA):c.*2496A>G
|
rs184179322
|
0.00058
|
NM_006610.4(MASP2):c.231C>T (p.Val77=)
|
rs140239262
|
0.00058
|
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=)
|
rs200884153
|
0.00058
|
NM_006929.5(SKIC2):c.1020T>C (p.Val340=)
|
rs61761944
|
0.00058
|
NM_014140.4(SMARCAL1):c.-114G>A
|
rs561221026
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
NM_144687.3(NLRP12):c.-226A>G
|
rs547032329
|
0.00058
|
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)
|
rs144744401
|
0.00058
|
NM_003764.4(STX11):c.*993C>T
|
rs187057501
|
0.00057
|
NM_014339.7(IL17RA):c.*4056A>T
|
rs779043954
|
0.00057
|
NM_133459.4(CCBE1):c.*4773C>G
|
rs192810490
|
0.00057
|
NM_183235.3(RAB27A):c.*2343G>C
|
rs141632141
|
0.00057
|
NM_203447.4(DOCK8):c.2971-4G>A
|
rs186097329
|
0.00057
|
NM_203447.4(DOCK8):c.5962-9T>C
|
rs1324502895
|
0.00057
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)
|
rs146837396
|
0.00056
|
NM_000215.4(JAK3):c.23C>T (p.Thr8Met)
|
rs145500023
|
0.00056
|
NM_000243.3(MEFV):c.*724G>A
|
rs886051968
|
0.00056
|
NM_000538.4(RFXAP):c.312C>T (p.Ser104=)
|
rs373233313
|
0.00056
|
NM_001033855.3(DCLRE1C):c.*616T>C
|
rs566371862
|
0.00056
|
NM_001113378.1(FANCI):c.-90T>C
|
rs559714713
|
0.00056
|
NM_032043.3(BRIP1):c.*2070G>A
|
rs764258526
|
0.00056
|
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=)
|
rs372034111
|
0.00056
|
NM_000051.4(ATM):c.*2607T>C
|
rs879796523
|
0.00055
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000136.3(FANCC):c.*1339C>T
|
rs144155068
|
0.00055
|
NM_001065.4(TNFRSF1A):c.-75C>T
|
rs55785527
|
0.00055
|
NM_001378373.1(MBL2):c.*2209T>C
|
rs747317698
|
0.00055
|
NM_003839.4(TNFRSF11A):c.*1231A>G
|
rs562667048
|
0.00055
|
NM_003839.4(TNFRSF11A):c.*447C>T
|
rs571832589
|
0.00055
|
NM_006610.4(MASP2):c.*219C>T
|
rs775881603
|
0.00055
|
NM_133459.4(CCBE1):c.-27G>T
|
rs767364494
|
0.00055
|
NM_133459.4(CCBE1):c.519A>G (p.Thr173=)
|
rs141327514
|
0.00055
|
NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr)
|
rs144279637
|
0.00055
|
NM_000243.3(MEFV):c.*1002G>C
|
rs1316887692
|
0.00054
|
NM_000246.4(CIITA):c.*125C>T
|
rs548867769
|
0.00054
|
NM_001033855.3(DCLRE1C):c.*759T>C
|
rs550717857
|
0.00054
|
NM_002185.5(IL7R):c.*1545G>C
|
rs1494575
|
0.00054
|
NM_003764.4(STX11):c.*1521C>T
|
rs750036582
|
0.00054
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
|
rs138214338
|
0.00053
|
NM_000417.3(IL2RA):c.656-14T>A
|
rs74162097
|
0.00053
|
NM_001033855.3(DCLRE1C):c.*429C>T
|
rs557496672
|
0.00053
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
NM_002185.5(IL7R):c.*807G>A
|
rs886060536
|
0.00053
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
NM_003764.4(STX11):c.*2569C>T
|
rs553007900
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_005914.3(MCM4):c.-754G>A
|
rs180692385
|
0.00053
|
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met)
|
rs141049110
|
0.00053
|
NM_032043.3(BRIP1):c.*2667C>T
|
rs373156872
|
0.00053
|
NM_032193.4(RNASEH2C):c.*456G>A
|
rs561937926
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_182746.3(MCM4):c.848T>C (p.Ile283Thr)
|
rs149232439
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000178.4(GSS):c.-46A>G
|
rs886056642
|
0.00052
|
NM_000246.4(CIITA):c.*465G>A
|
rs190253856
|
0.00052
|
NM_005633.4(SOS1):c.*3989G>C
|
rs751112874
|
0.00052
|
NM_080911.3(UNG):c.*880A>T
|
rs567806750
|
0.00052
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_000135.4(FANCA):c.*937A>G
|
rs55794507
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000178.4(GSS):c.1203C>T (p.Ile401=)
|
rs138574949
|
0.00051
|
NM_000271.4(NPC1):c.-272A>C
|
rs540866381
|
0.00051
|
NM_001250.6(CD40):c.*178G>A
|
rs565941222
|
0.00051
|
NM_002351.5(SH2D1A):c.*1755G>A
|
rs1049817964
|
0.00051
|
NM_002834.5(PTPN11):c.*4019C>T
|
rs886048982
|
0.00051
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn)
|
rs149771513
|
0.00051
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
NM_024570.4(RNASEH2B):c.-228C>A
|
rs577725827
|
0.00051
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
NM_133459.4(CCBE1):c.*942C>T
|
rs148435558
|
0.00051
|
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln)
|
rs141638717
|
0.00051
|
NM_199242.3(UNC13D):c.2553+5C>G
|
rs201930023
|
0.00051
|
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)
|
rs150952348
|
0.00051
|
NM_000064.4(C3):c.1480-4C>A
|
rs200965763
|
0.00050
|
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys)
|
rs137959302
|
0.00050
|
NM_001167.4(XIAP):c.*2521A>G
|
rs746553843
|
0.00050
|
NM_001250.6(CD40):c.*372A>C
|
rs117490488
|
0.00050
|
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)
|
rs199739943
|
0.00050
|
NM_002185.5(IL7R):c.*2242C>A
|
rs757519422
|
0.00050
|
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr)
|
rs114620403
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_000178.4(GSS):c.*68G>T
|
rs36066003
|
0.00049
|
NM_001065.4(TNFRSF1A):c.*374T>G
|
rs200167144
|
0.00049
|
NM_001079.4(ZAP70):c.*328C>T
|
rs201790312
|
0.00049
|
NM_002185.5(IL7R):c.*2183C>A
|
rs753982280
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_172351.3(CD46):c.*1111C>G
|
rs193023975
|
0.00049
|
NM_182746.3(MCM4):c.487A>G (p.Lys163Glu)
|
rs34206069
|
0.00049
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000211.5(ITGB2):c.1413-8G>A
|
rs375743879
|
0.00048
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys)
|
rs140403518
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000733.4(CD3E):c.*522C>G
|
rs200563411
|
0.00047
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
NM_001430.5(EPAS1):c.-347T>G
|
rs192684713
|
0.00047
|
NM_001558.4(IL10RA):c.*1375C>A
|
rs141609122
|
0.00047
|
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)
|
rs138482569
|
0.00047
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_004629.1(FANCG):c.-488G>A
|
rs752617227
|
0.00047
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000215.4(JAK3):c.*1523C>T
|
rs145985086
|
0.00046
|
NM_000246.4(CIITA):c.*395T>C
|
rs754661893
|
0.00046
|
NM_000628.5(IL10RB):c.174-14T>G
|
rs200472684
|
0.00046
|
NM_001243133.2(NLRP3):c.-460G>A
|
rs199475727
|
0.00046
|
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)
|
rs147874812
|
0.00046
|
NM_001375808.2(LPIN2):c.*2417C>T
|
rs760089028
|
0.00046
|
NM_001558.4(IL10RA):c.*203G>T
|
rs550348490
|
0.00046
|
NM_002185.5(IL7R):c.*1614T>C
|
rs563820481
|
0.00046
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
NM_003764.4(STX11):c.*1425C>T
|
rs527870634
|
0.00046
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys)
|
rs145378071
|
0.00046
|
NM_032977.4(CASP10):c.*3613C>T
|
rs774470649
|
0.00046
|
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
|
rs151094543
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro)
|
rs199761884
|
0.00045
|
NM_001083116.3(PRF1):c.286C>A (p.Arg96=)
|
rs144024245
|
0.00045
|
NM_001375808.2(LPIN2):c.*520T>C
|
rs576721761
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_020661.4(AICDA):c.*1213A>G
|
rs751259274
|
0.00045
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=)
|
rs146073007
|
0.00045
|
NM_199242.3(UNC13D):c.2368-5C>T
|
rs180768962
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_001375808.2(LPIN2):c.*1742A>G
|
rs551448975
|
0.00044
|
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp)
|
rs143538561
|
0.00044
|
NM_002834.5(PTPN11):c.*3971A>G
|
rs572565511
|
0.00044
|
NM_005546.4(ITK):c.*1177A>G
|
rs777088703
|
0.00044
|
NM_016123.4(IRAK4):c.*1187C>T
|
rs755598323
|
0.00044
|
NM_016123.4(IRAK4):c.529A>G (p.Thr177Ala)
|
rs141209982
|
0.00044
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
NM_032977.4(CASP10):c.*1624T>C
|
rs150841386
|
0.00044
|
NM_032977.4(CASP10):c.*2590G>C
|
rs74267227
|
0.00044
|
NM_133459.4(CCBE1):c.*3430T>C
|
rs1360147097
|
0.00044
|
NM_199242.2(UNC13D):c.-363C>T
|
rs886053429
|
0.00044
|
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)
|
rs201215476
|
0.00043
|
NM_000417.3(IL2RA):c.*1186C>T
|
rs12722603
|
0.00043
|
NM_000538.4(RFXAP):c.666A>G (p.Ala222=)
|
rs139675642
|
0.00043
|
NM_001558.4(IL10RA):c.*854C>G
|
rs535662153
|
0.00043
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_005546.4(ITK):c.*1619G>A
|
rs139530015
|
0.00043
|
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr)
|
rs147701543
|
0.00043
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
|
rs150363383
|
0.00043
|
NM_032977.4(CASP10):c.*3420C>T
|
rs536711035
|
0.00043
|
NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)
|
rs148472763
|
0.00043
|
NM_206937.2(LIG4):c.*486A>G
|
rs543340651
|
0.00043
|
NM_206937.2(LIG4):c.2222G>A (p.Arg741His)
|
rs143767581
|
0.00043
|
NM_000051.4(ATM):c.*540A>C
|
rs868594741
|
0.00042
|
NM_000178.4(GSS):c.-80G>C
|
rs570588543
|
0.00042
|
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser)
|
rs144646271
|
0.00042
|
NM_000417.3(IL2RA):c.*444T>A
|
rs12722601
|
0.00042
|
NM_001065.4(TNFRSF1A):c.*252A>G
|
rs45563431
|
0.00042
|
NM_000051.4(ATM):c.*1641G>A
|
rs978143944
|
0.00041
|
NM_000063.6(C2):c.1413C>T (p.Asn471=)
|
rs138221333
|
0.00041
|
NM_000064.4(C3):c.1855G>A (p.Val619Met)
|
rs146613648
|
0.00041
|
NM_000136.3(FANCC):c.*97dup
|
rs1057515705
|
0.00041
|
NM_000733.4(CD3E):c.49+3G>A
|
rs202200315
|
0.00041
|
NM_003331.5(TYK2):c.193+14G>A
|
rs199931972
|
0.00041
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
NM_003721.4(RFXANK):c.187+13C>T
|
rs201778172
|
0.00041
|
NM_005546.4(ITK):c.*1490G>A
|
rs145699363
|
0.00041
|
NM_005546.4(ITK):c.*554G>A
|
rs777364959
|
0.00041
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
NM_032444.4(SLX4):c.*882C>T
|
rs578011999
|
0.00041
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)
|
rs141811556
|
0.00041
|
NM_139276.2(STAT3):c.-195G>C
|
rs780393027
|
0.00041
|
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val)
|
rs140148619
|
0.00041
|
NM_000051.4(ATM):c.*2362T>C
|
rs185852664
|
0.00040
|
NM_000073.3(CD3G):c.*551C>T
|
rs45614033
|
0.00040
|
NM_000628.5(IL10RB):c.-74C>A
|
rs56368587
|
0.00040
|
NM_001770.6(CD19):c.*37A>G
|
rs756122612
|
0.00040
|
NM_005633.4(SOS1):c.*4014T>C
|
rs186738827
|
0.00040
|
NM_032193.4(RNASEH2C):c.*363C>T
|
rs547082810
|
0.00040
|
NM_182746.3(MCM4):c.*255A>G
|
rs544019622
|
0.00040
|
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
|
rs147287319
|
0.00040
|
NM_000064.4(C3):c.-44C>T
|
rs773043245
|
0.00039
|
NM_000136.3(FANCC):c.*2296G>A
|
rs561975553
|
0.00039
|
NM_000246.4(CIITA):c.*126G>A
|
rs565569961
|
0.00039
|
NM_001018115.3(FANCD2):c.4281+355A>G
|
rs770674504
|
0.00039
|
NM_001083116.3(PRF1):c.807C>T (p.His269=)
|
rs147453010
|
0.00039
|
NM_002834.5(PTPN11):c.*2150G>T
|
rs756441720
|
0.00039
|
NM_005045.4(RELN):c.-29C>T
|
rs779534888
|
0.00039
|
NM_005045.4(RELN):c.7180+12G>A
|
rs142041722
|
0.00039
|
NM_032444.4(SLX4):c.*102G>A
|
rs531417263
|
0.00039
|
NM_133459.4(CCBE1):c.*2903G>C
|
rs181044048
|
0.00039
|
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)
|
rs374606481
|
0.00039
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
NM_206937.2(LIG4):c.*525T>G
|
rs563066834
|
0.00039
|
NM_206937.2(LIG4):c.-32C>T
|
rs536441091
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
NM_001243133.2(NLRP3):c.-710C>T
|
rs199723383
|
0.00038
|
NM_001375808.2(LPIN2):c.*1827G>A
|
rs886053747
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_001378373.1(MBL2):c.*675C>T
|
rs56213573
|
0.00038
|
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)
|
rs148001159
|
0.00038
|
NM_005045.4(RELN):c.5136G>A (p.Thr1712=)
|
rs147933593
|
0.00038
|
NM_005633.4(SOS1):c.*3725T>C
|
rs72799430
|
0.00038
|
NM_006397.3(RNASEH2A):c.*16G>T
|
rs199696470
|
0.00038
|
NM_015474.4(SAMHD1):c.*95T>C
|
rs147220022
|
0.00038
|
NM_015474.4(SAMHD1):c.-31T>C
|
rs142162198
|
0.00038
|
NM_015474.4(SAMHD1):c.-39C>A
|
rs368233437
|
0.00038
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu)
|
rs147681552
|
0.00038
|
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)
|
rs200772179
|
0.00038
|
NM_152564.5(VPS13B):c.*743T>G
|
rs144603951
|
0.00038
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
NM_000538.4(RFXAP):c.-101T>G
|
rs566055344
|
0.00037
|
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=)
|
rs150096962
|
0.00037
|
NM_003839.4(TNFRSF11A):c.*633C>A
|
rs184568614
|
0.00037
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
NM_020661.4(AICDA):c.*235C>G
|
rs112610523
|
0.00037
|
NM_144687.3(NLRP12):c.*395C>T
|
rs886054604
|
0.00037
|
NM_000051.4(ATM):c.*1520C>T
|
rs112426029
|
0.00036
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)
|
rs144590448
|
0.00036
|
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe)
|
rs200580168
|
0.00036
|
NM_000538.4(RFXAP):c.-82G>C
|
rs1049387935
|
0.00036
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)
|
rs150950017
|
0.00036
|
NM_002351.5(SH2D1A):c.*1601T>C
|
rs369322350
|
0.00036
|
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val)
|
rs199924392
|
0.00036
|
NM_016123.4(IRAK4):c.720T>C (p.Cys240=)
|
rs144854858
|
0.00036
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
NM_020661.4(AICDA):c.*625T>C
|
rs112850229
|
0.00036
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_032977.4(CASP10):c.*136A>G
|
rs747374452
|
0.00036
|
NM_133459.4(CCBE1):c.*3893C>T
|
rs192002000
|
0.00036
|
NM_133459.4(CCBE1):c.*4818G>A
|
rs531452846
|
0.00036
|
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
NM_206937.2(LIG4):c.-101-159G>C
|
rs886049950
|
0.00036
|
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)
|
rs142144659
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000064.4(C3):c.4827C>T (p.Ser1609=)
|
rs150537373
|
0.00035
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000211.5(ITGB2):c.742-15A>G
|
rs199665785
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
NM_000417.3(IL2RA):c.757G>A (p.Val253Ile)
|
rs143550766
|
0.00035
|
NM_001025603.2(RFX5):c.*1158G>A
|
rs147378847
|
0.00035
|
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)
|
rs144926997
|
0.00035
|
NM_001167.4(XIAP):c.*3408G>T
|
rs746713249
|
0.00035
|
NM_001770.6(CD19):c.*100T>C
|
rs766679967
|
0.00035
|
NM_002880.4(RAF1):c.-209G>A
|
rs727504351
|
0.00035
|
NM_003764.4(STX11):c.*1692C>T
|
rs748657267
|
0.00035
|
NM_006206.6(PDGFRA):c.*2970G>T
|
rs752208389
|
0.00035
|
NM_016123.4(IRAK4):c.*1161G>A
|
rs545334973
|
0.00035
|
NM_021922.3(FANCE):c.-105C>T
|
rs886061326
|
0.00035
|
NM_022051.3(EGLN1):c.*1088C>T
|
rs763620691
|
0.00035
|
NM_022051.3(EGLN1):c.*1965A>G
|
rs185322052
|
0.00035
|
NM_033360.4(KRAS):c.*4619T>C
|
rs768891600
|
0.00035
|
NM_133459.4(CCBE1):c.*2340T>C
|
rs528130337
|
0.00035
|
NM_139276.3(STAT3):c.-140C>T
|
rs528219097
|
0.00035
|
NM_144687.4(NLRP12):c.-56G>A
|
rs112227599
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000064.4(C3):c.4824C>T (p.Ser1608=)
|
rs139457470
|
0.00034
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
NM_000178.4(GSS):c.-16G>A
|
rs575728230
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000431.4(MVK):c.371+13T>C
|
rs201201471
|
0.00034
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)
|
rs104895432
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_005045.4(RELN):c.2754A>G (p.Gln918=)
|
rs114620008
|
0.00034
|
NM_005546.4(ITK):c.138+13T>C
|
rs200603754
|
0.00034
|
NM_014339.7(IL17RA):c.*1526G>A
|
rs372204111
|
0.00034
|
NM_022051.2(EGLN1):c.-2887A>G
|
rs755076898
|
0.00034
|
NM_032043.3(BRIP1):c.*380C>T
|
rs556729826
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032977.4(CASP10):c.-8+5G>A
|
rs781551128
|
0.00034
|
NM_033629.6(TREX1):c.183G>A (p.Pro61=)
|
rs55852466
|
0.00034
|
NM_133459.4(CCBE1):c.*835T>A
|
rs542982078
|
0.00034
|
NM_133459.4(CCBE1):c.*836C>T
|
rs575906287
|
0.00034
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
NM_183235.3(RAB27A):c.*2415T>C
|
rs749048516
|
0.00034
|
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=)
|
rs143184345
|
0.00034
|
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)
|
rs373551579
|
0.00034
|
NM_206937.2(LIG4):c.*738G>A
|
rs567294082
|
0.00034
|
NM_000246.4(CIITA):c.1926C>T (p.Val642=)
|
rs138376967
|
0.00033
|
NM_000417.3(IL2RA):c.*2131A>G
|
rs549245031
|
0.00033
|
NM_000417.3(IL2RA):c.332G>A (p.Ser111Asn)
|
rs56054476
|
0.00033
|
NM_001375808.2(LPIN2):c.*2605G>A
|
rs559796642
|
0.00033
|
NM_001375808.2(LPIN2):c.*666C>T
|
rs186189096
|
0.00033
|
NM_001770.6(CD19):c.527C>T (p.Pro176Leu)
|
rs148200569
|
0.00033
|
NM_001814.6(CTSC):c.-48G>A
|
rs200415443
|
0.00033
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile)
|
rs138640615
|
0.00033
|
NM_033360.4(KRAS):c.*886A>G
|
rs886049195
|
0.00033
|
NM_173842.3(IL1RN):c.*119C>T
|
rs377302236
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_000135.4(FANCA):c.*138T>A
|
rs775549018
|
0.00032
|
NM_000136.3(FANCC):c.*1495T>G
|
rs41281198
|
0.00032
|
NM_000136.3(FANCC):c.*2305G>A
|
rs562465438
|
0.00032
|
NM_000431.4(MVK):c.*468C>T
|
rs768794506
|
0.00032
|
NM_001033855.3(DCLRE1C):c.*220del
|
rs886046848
|
0.00032
|
NM_001370466.1(NOD2):c.-8-2297C>T
|
rs188341692
|
0.00032
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=)
|
rs138204772
|
0.00032
|
NM_005546.4(ITK):c.*1859C>T
|
rs780591680
|
0.00032
|
NM_012092.4(ICOS):c.*1293T>C
|
rs528769953
|
0.00032
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
NM_133459.4(CCBE1):c.*1347C>T
|
rs182559343
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_173842.3(IL1RN):c.*382C>T
|
rs45566534
|
0.00032
|
NM_206937.2(LIG4):c.*166G>C
|
rs538355612
|
0.00032
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
NM_000059.4(BRCA2):c.*854T>C
|
rs572993583
|
0.00031
|
NM_000063.6(C2):c.1450A>G (p.Ile484Val)
|
rs145988012
|
0.00031
|
NM_000063.6(C2):c.929A>G (p.Asn310Ser)
|
rs144201432
|
0.00031
|
NM_000064.4(C3):c.2799G>A (p.Pro933=)
|
rs149209011
|
0.00031
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp)
|
rs113889330
|
0.00031
|
NM_000271.5(NPC1):c.-36A>C
|
rs750622739
|
0.00031
|
NM_000448.3(RAG1):c.*1124C>T
|
rs756654880
|
0.00031
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
NM_001079.4(ZAP70):c.*11C>A
|
rs200035333
|
0.00031
|
NM_001250.6(CD40):c.*677G>A
|
rs370599881
|
0.00031
|
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)
|
rs148931962
|
0.00031
|
NM_003331.5(TYK2):c.2985C>T (p.Ile995=)
|
rs147442318
|
0.00031
|
NM_003978.5(PSTPIP1):c.*145C>T
|
rs965236443
|
0.00031
|
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
|
rs764992007
|
0.00031
|
NM_005045.4(RELN):c.*68C>T
|
rs978914860
|
0.00031
|
NM_005045.4(RELN):c.4275A>G (p.Gly1425=)
|
rs141617635
|
0.00031
|
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)
|
rs199553777
|
0.00031
|
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)
|
rs149613347
|
0.00031
|
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00031
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
NM_006610.4(MASP2):c.1314C>T (p.Ala438=)
|
rs199953319
|
0.00031
|
NM_006947.4(SRP72):c.*505C>T
|
rs562987091
|
0.00031
|
NM_014339.7(IL17RA):c.1400T>C (p.Leu467Pro)
|
rs369912474
|
0.00031
|
NM_022725.4(FANCF):c.*1094A>G
|
rs544116147
|
0.00031
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys)
|
rs149682257
|
0.00031
|
NM_133459.4(CCBE1):c.*2373C>T
|
rs530647353
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
NM_199242.2(UNC13D):c.-347G>A
|
rs534324377
|
0.00031
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000135.4(FANCA):c.*521C>T
|
rs144644592
|
0.00030
|
NM_000246.4(CIITA):c.*849T>C
|
rs182641396
|
0.00030
|
NM_000271.5(NPC1):c.-139G>A
|
rs781541939
|
0.00030
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_001033855.3(DCLRE1C):c.*391C>T
|
rs189798814
|
0.00030
|
NM_003331.5(TYK2):c.648G>A (p.Pro216=)
|
rs142642403
|
0.00030
|
NM_003721.4(RFXANK):c.-298C>T
|
rs573479798
|
0.00030
|
NM_006206.5(PDGFRA):c.-318G>A
|
rs533627398
|
0.00030
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
NM_139276.3(STAT3):c.*895A>G
|
rs537640981
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)
|
rs144730861
|
0.00030
|
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys)
|
rs200899164
|
0.00030
|
NM_203447.4(DOCK8):c.828-7A>G
|
rs200243583
|
0.00030
|
NM_000063.6(C2):c.73C>T (p.Pro25Ser)
|
rs200095096
|
0.00029
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
NM_000135.4(FANCA):c.*144G>C
|
rs575606938
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000211.4(ITGB2):c.-98T>C
|
rs7280802
|
0.00029
|
NM_000215.4(JAK3):c.696C>T (p.His232=)
|
rs199902822
|
0.00029
|
NM_000536.4(RAG2):c.368G>A (p.Arg123His)
|
rs144012817
|
0.00029
|
NM_001018115.3(FANCD2):c.1134+8T>G
|
rs373232961
|
0.00029
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
NM_001018115.3(FANCD2):c.4281+597C>T
|
rs548255173
|
0.00029
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
NM_001370466.1(NOD2):c.*462C>A
|
rs562972090
|
0.00029
|
NM_001375808.2(LPIN2):c.*1021G>A
|
rs886053751
|
0.00029
|
NM_001375808.2(LPIN2):c.*3280C>T
|
rs751266426
|
0.00029
|
NM_002185.5(IL7R):c.*2873C>T
|
rs377053917
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_003764.4(STX11):c.*1571C>G
|
rs151020584
|
0.00029
|
NM_003764.4(STX11):c.*3418C>A
|
rs56129660
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_005045.4(RELN):c.5796C>T (p.Asn1932=)
|
rs200299096
|
0.00029
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
NM_006206.6(PDGFRA):c.*332G>A
|
rs750090756
|
0.00029
|
NM_006206.6(PDGFRA):c.-13+12G>T
|
rs760170961
|
0.00029
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met)
|
rs2271336
|
0.00029
|
NM_016123.4(IRAK4):c.*2563G>A
|
rs756483703
|
0.00029
|
NM_032043.3(BRIP1):c.-237dup
|
rs112243287
|
0.00029
|
NM_032193.4(RNASEH2C):c.*1737C>T
|
rs886048487
|
0.00029
|
NM_032444.4(SLX4):c.*311G>A
|
rs749668095
|
0.00029
|
NM_033360.4(KRAS):c.*314C>T
|
rs150334904
|
0.00029
|
NM_080424.4(SP110):c.2122G>C (p.Gly708Arg)
|
rs181058279
|
0.00029
|
NM_080424.4(SP110):c.459G>A (p.Ala153=)
|
rs201957445
|
0.00029
|
NM_148919.4(PSMB8):c.*6G>C
|
rs371747700
|
0.00029
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
NM_182746.3(MCM4):c.-14-50G>A
|
rs886062973
|
0.00029
|
NM_182746.3(MCM4):c.-68G>T
|
rs17287533
|
0.00029
|
NM_199242.3(UNC13D):c.2830+7G>A
|
rs201023196
|
0.00029
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000061.3(BTK):c.-105G>T
|
rs1034801451
|
0.00028
|
NM_001065.4(TNFRSF1A):c.*64T>C
|
rs200188649
|
0.00028
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
NM_001167.4(XIAP):c.*6220C>T
|
rs370656891
|
0.00028
|
NM_001814.5(CTSC):c.-80G>C
|
rs758293258
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_014339.7(IL17RA):c.*4239A>G
|
rs572377283
|
0.00028
|
NM_015474.4(SAMHD1):c.-10A>G
|
rs199721283
|
0.00028
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
NM_022051.3(EGLN1):c.-20T>C
|
rs756211725
|
0.00028
|
NM_032043.3(BRIP1):c.*1868G>T
|
rs184666432
|
0.00028
|
NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)
|
rs144916851
|
0.00028
|
NM_000063.6(C2):c.749C>G (p.Ser250Cys)
|
rs150827255
|
0.00027
|
NM_000136.3(FANCC):c.*431T>C
|
rs550009657
|
0.00027
|
NM_000211.5(ITGB2):c.1877+12C>T
|
rs200144784
|
0.00027
|
NM_000215.4(JAK3):c.*507A>T
|
rs572139474
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000417.3(IL2RA):c.*963A>C
|
rs527589024
|
0.00027
|
NM_000538.3(RFXAP):c.*1730G>A
|
rs559608963
|
0.00027
|
NM_000538.4(RFXAP):c.*818A>G
|
rs545155315
|
0.00027
|
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)
|
rs140787739
|
0.00027
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
NM_001167.4(XIAP):c.*1940T>C
|
rs755490620
|
0.00027
|
NM_001167.4(XIAP):c.*6010G>A
|
rs764617684
|
0.00027
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
NM_001375808.2(LPIN2):c.*167C>T
|
rs533979693
|
0.00027
|
NM_001375808.2(LPIN2):c.*2391G>A
|
rs536036852
|
0.00027
|
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp)
|
rs201240289
|
0.00027
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_014339.7(IL17RA):c.-23C>A
|
rs537206064
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_032444.4(SLX4):c.-416G>A
|
rs528320603
|
0.00027
|
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=)
|
rs779365266
|
0.00027
|
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)
|
rs115052010
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=)
|
rs144299704
|
0.00027
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
NM_000204.4(CFI):c.-171G>A
|
rs182477786
|
0.00026
|
NM_000215.4(JAK3):c.187A>G (p.Ile63Val)
|
rs144405201
|
0.00026
|
NM_000243.3(MEFV):c.*403A>C
|
rs766365739
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_001243133.2(NLRP3):c.-686C>T
|
rs201896158
|
0.00026
|
NM_001370466.1(NOD2):c.*382C>T
|
rs535063121
|
0.00026
|
NM_001372051.1(CASP8):c.*314C>T
|
rs906158329
|
0.00026
|
NM_001375808.2(LPIN2):c.*1443G>A
|
rs532711041
|
0.00026
|
NM_001375808.2(LPIN2):c.*833G>A
|
rs540627141
|
0.00026
|
NM_001375808.2(LPIN2):c.-10+1187C>T
|
rs765741319
|
0.00026
|
NM_001378373.1(MBL2):c.-9-5C>G
|
rs184683428
|
0.00026
|
NM_001378373.1(MBL2):c.483T>C (p.Ser161=)
|
rs760332285
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_003331.5(TYK2):c.2670G>C (p.Thr890=)
|
rs144332908
|
0.00026
|
NM_005633.4(SOS1):c.*1762A>C
|
rs374339697
|
0.00026
|
NM_006206.6(PDGFRA):c.*1249C>T
|
rs777258903
|
0.00026
|
NM_014339.7(IL17RA):c.*2512C>A
|
rs539337199
|
0.00026
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
NM_022051.3(EGLN1):c.*663C>T
|
rs375652885
|
0.00026
|
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu)
|
rs796280222
|
0.00026
|
NM_022725.3(FANCF):c.-31T>C
|
rs202069513
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_033360.4(KRAS):c.*1831G>A
|
rs531344668
|
0.00026
|
NM_172351.3(CD46):c.276C>T (p.Asp92=)
|
rs148383499
|
0.00026
|
NM_182746.3(MCM4):c.*882G>A
|
rs576678949
|
0.00026
|
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val)
|
rs139990627
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000073.3(CD3G):c.*216C>A
|
rs200727417
|
0.00025
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_000431.4(MVK):c.876C>T (p.Leu292=)
|
rs370301290
|
0.00025
|
NM_000628.5(IL10RB):c.718G>A (p.Gly240Ser)
|
rs777514296
|
0.00025
|
NM_001025603.2(RFX5):c.*1177C>T
|
rs567453441
|
0.00025
|
NM_001167.4(XIAP):c.*3544G>A
|
rs747125911
|
0.00025
|
NM_001375808.2(LPIN2):c.*477C>T
|
rs140430664
|
0.00025
|
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro)
|
rs373929015
|
0.00025
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
NM_002524.5(NRAS):c.112-8A>G
|
rs9724626
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_003764.4(STX11):c.228G>C (p.Met76Ile)
|
rs141487068
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)
|
rs138598422
|
0.00025
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
NM_006206.6(PDGFRA):c.*1928G>C
|
rs748063948
|
0.00025
|
NM_006610.4(MASP2):c.1213G>A (p.Val405Met)
|
rs61735594
|
0.00025
|
NM_006947.4(SRP72):c.*624A>G
|
rs867685822
|
0.00025
|
NM_016123.4(IRAK4):c.*319A>G
|
rs769535835
|
0.00025
|
NM_022051.2(EGLN1):c.-470C>T
|
rs886046118
|
0.00025
|
NM_133459.4(CCBE1):c.*4715T>G
|
rs570883624
|
0.00025
|
NM_133459.4(CCBE1):c.*4940A>T
|
rs374031151
|
0.00025
|
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)
|
rs201638660
|
0.00025
|
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile)
|
rs148368084
|
0.00025
|
NM_000073.3(CD3G):c.511T>C (p.Tyr171His)
|
rs148191859
|
0.00024
|
NM_000135.4(FANCA):c.*819T>C
|
rs186050933
|
0.00024
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=)
|
rs200615045
|
0.00024
|
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu)
|
rs373223342
|
0.00024
|
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn)
|
rs149483341
|
0.00024
|
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys)
|
rs200077579
|
0.00024
|
NM_000222.3(KIT):c.*2056G>A
|
rs567475861
|
0.00024
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
NM_000417.3(IL2RA):c.*2055T>C
|
rs561032746
|
0.00024
|
NM_000417.3(IL2RA):c.*599C>G
|
rs541601070
|
0.00024
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
NM_001033855.3(DCLRE1C):c.*1525A>T
|
rs552656235
|
0.00024
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)
|
rs2076754
|
0.00024
|
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)
|
rs5743275
|
0.00024
|
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)
|
rs104895469
|
0.00024
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_001430.5(EPAS1):c.*1278C>T
|
rs545916994
|
0.00024
|
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser)
|
rs201777547
|
0.00024
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
NM_002185.5(IL7R):c.*674A>G
|
rs565860240
|
0.00024
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
NM_003839.4(TNFRSF11A):c.*125T>C
|
rs528975442
|
0.00024
|
NM_003839.4(TNFRSF11A):c.*126C>T
|
rs548628692
|
0.00024
|
NM_006206.6(PDGFRA):c.*2121C>A
|
rs557865852
|
0.00024
|
NM_014339.7(IL17RA):c.*3127G>A
|
rs753591654
|
0.00024
|
NM_022051.3(EGLN1):c.*1185T>C
|
rs775022659
|
0.00024
|
NM_022051.3(EGLN1):c.*2044G>A
|
rs886046096
|
0.00024
|
NM_022051.3(EGLN1):c.-374C>T
|
rs551144196
|
0.00024
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
NM_032638.5(GATA2):c.*352C>T
|
rs938268244
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_203447.4(DOCK8):c.5818-13G>A
|
rs368826292
|
0.00024
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000361.3(THBD):c.*1011C>A
|
rs534762196
|
0.00023
|
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)
|
rs560600678
|
0.00023
|
NM_001228.4(CASP8):c.-310A>G
|
rs527497064
|
0.00023
|
NM_001369369.1(FOXN1):c.*318A>G
|
rs886052759
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)
|
rs201084372
|
0.00023
|
NM_003764.4(STX11):c.*3277C>T
|
rs564221381
|
0.00023
|
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=)
|
rs145242277
|
0.00023
|
NM_006432.5(NPC2):c.*237G>A
|
rs185533644
|
0.00023
|
NM_014339.7(IL17RA):c.*3175T>C
|
rs569490500
|
0.00023
|
NM_032043.3(BRIP1):c.*3465A>T
|
rs539412199
|
0.00023
|
NM_080424.4(SP110):c.-85T>C
|
rs199943005
|
0.00023
|
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=)
|
rs138617736
|
0.00023
|
NM_000051.4(ATM):c.*3022C>G
|
rs145076930
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_000073.3(CD3G):c.496C>A (p.Arg166=)
|
rs201529449
|
0.00022
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000135.4(FANCA):c.*146C>T
|
rs556325258
|
0.00022
|
NM_000222.3(KIT):c.*390A>G
|
rs528891717
|
0.00022
|
NM_001025603.2(RFX5):c.*373G>T
|
rs886045280
|
0.00022
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)
|
rs143110172
|
0.00022
|
NM_001372051.1(CASP8):c.*812T>A
|
rs538987233
|
0.00022
|
NM_001378373.1(MBL2):c.*1088C>T
|
rs56095345
|
0.00022
|
NM_001558.4(IL10RA):c.*863C>T
|
rs779722798
|
0.00022
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_002524.5(NRAS):c.*2844T>A
|
rs530053161
|
0.00022
|
NM_002880.4(RAF1):c.-181T>C
|
rs886057920
|
0.00022
|
NM_005546.4(ITK):c.*1398G>A
|
rs188565647
|
0.00022
|
NM_006947.4(SRP72):c.*1385A>G
|
rs754461786
|
0.00022
|
NM_014339.7(IL17RA):c.*1093T>C
|
rs886057215
|
0.00022
|
NM_014339.7(IL17RA):c.1086C>T (p.Thr362=)
|
rs139716919
|
0.00022
|
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His)
|
rs199861210
|
0.00022
|
NM_022051.3(EGLN1):c.*1731C>T
|
rs759117979
|
0.00022
|
NM_032638.5(GATA2):c.1416G>A (p.Pro472=)
|
rs376805544
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_182746.3(MCM4):c.1175-7C>T
|
rs372261482
|
0.00022
|
NM_000051.4(ATM):c.*1571C>T
|
rs886047621
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000215.4(JAK3):c.*371C>T
|
rs185462850
|
0.00021
|
NM_000246.4(CIITA):c.*673G>A
|
rs779237900
|
0.00021
|
NM_000246.4(CIITA):c.2892G>A (p.Leu964=)
|
rs200599265
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_000361.3(THBD):c.*338C>T
|
rs536637715
|
0.00021
|
NM_000431.4(MVK):c.*358G>A
|
rs575863113
|
0.00021
|
NM_000431.4(MVK):c.*431C>T
|
rs72648044
|
0.00021
|
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)
|
rs151077440
|
0.00021
|
NM_001025603.2(RFX5):c.*364A>C
|
rs769251514
|
0.00021
|
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=)
|
rs144353639
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
NM_001370466.1(NOD2):c.*1201T>A
|
rs751525993
|
0.00021
|
NM_001370466.1(NOD2):c.*470C>T
|
rs770461687
|
0.00021
|
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)
|
rs150078153
|
0.00021
|
NM_001375808.2(LPIN2):c.*3217A>G
|
rs767074158
|
0.00021
|
NM_002185.5(IL7R):c.1165G>C (p.Asp389His)
|
rs143596606
|
0.00021
|
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)
|
rs200856000
|
0.00021
|
NM_002880.4(RAF1):c.125C>T (p.Ala42Val)
|
rs11549992
|
0.00021
|
NM_003331.5(TYK2):c.2017G>T (p.Val673Leu)
|
rs528691386
|
0.00021
|
NM_003839.4(TNFRSF11A):c.*705G>A
|
rs886054096
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
NM_005546.4(ITK):c.*1255C>T
|
rs575345566
|
0.00021
|
NM_005546.4(ITK):c.237G>A (p.Pro79=)
|
rs201403794
|
0.00021
|
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser)
|
rs373169862
|
0.00021
|
NM_006846.4(SPINK5):c.750C>T (p.Asp250=)
|
rs199793551
|
0.00021
|
NM_014339.7(IL17RA):c.*1480G>A
|
rs182884770
|
0.00021
|
NM_014339.7(IL17RA):c.*2141C>T
|
rs550573977
|
0.00021
|
NM_020529.3(NFKBIA):c.*252T>G
|
rs940642653
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_032444.4(SLX4):c.-271G>A
|
rs149773885
|
0.00021
|
NM_133459.4(CCBE1):c.*20G>A
|
rs372843233
|
0.00021
|
NM_133459.4(CCBE1):c.*2299T>A
|
rs886054052
|
0.00021
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
NM_152564.5(VPS13B):c.*1345C>T
|
rs778566330
|
0.00021
|
NM_152564.5(VPS13B):c.*745C>G
|
rs138761680
|
0.00021
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
NM_182746.3(MCM4):c.*1134A>C
|
rs11553127
|
0.00021
|
NM_182746.3(MCM4):c.2257G>C (p.Val753Leu)
|
rs150870761
|
0.00021
|
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys)
|
rs148574729
|
0.00021
|
NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp)
|
rs550289472
|
0.00021
|
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)
|
rs148693111
|
0.00021
|
NM_000051.4(ATM):c.*2479G>A
|
rs778439888
|
0.00020
|
NM_000063.6(C2):c.218C>T (p.Pro73Leu)
|
rs137902889
|
0.00020
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)
|
rs750657898
|
0.00020
|
NM_000211.5(ITGB2):c.-8C>T
|
rs886057120
|
0.00020
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000271.5(NPC1):c.*191C>A
|
rs534888589
|
0.00020
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
NM_001243133.2(NLRP3):c.-68C>T
|
rs201758466
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_001375808.2(LPIN2):c.*1462A>G
|
rs560770304
|
0.00020
|
NM_002185.5(IL7R):c.*2817C>A
|
rs113393512
|
0.00020
|
NM_002524.5(NRAS):c.-106G>T
|
rs755583487
|
0.00020
|
NM_002834.5(PTPN11):c.*687C>T
|
rs748512308
|
0.00020
|
NM_004333.6(BRAF):c.*216T>C
|
rs184804021
|
0.00020
|
NM_005633.4(SOS1):c.*3252A>C
|
rs769883659
|
0.00020
|
NM_006206.6(PDGFRA):c.*2142G>A
|
rs914482961
|
0.00020
|
NM_006206.6(PDGFRA):c.*2186G>A
|
rs569793596
|
0.00020
|
NM_014339.7(IL17RA):c.*4509A>G
|
rs886057234
|
0.00020
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala)
|
rs201078944
|
0.00020
|
NM_032043.3(BRIP1):c.*2812A>G
|
rs112375062
|
0.00020
|
NM_033360.4(KRAS):c.*4549G>C
|
rs545014897
|
0.00020
|
NM_133459.4(CCBE1):c.654+10G>A
|
rs199573616
|
0.00020
|
NM_133459.4(CCBE1):c.810C>T (p.Pro270=)
|
rs151243930
|
0.00020
|
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)
|
rs151048660
|
0.00020
|
NM_139276.3(STAT3):c.*2144C>T
|
rs886052932
|
0.00020
|
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)
|
rs139564938
|
0.00020
|
NM_000043.6(FAS):c.-10C>A
|
rs200181814
|
0.00019
|
NM_000051.4(ATM):c.*223G>A
|
rs536067082
|
0.00019
|
NM_000051.4(ATM):c.*2957G>C
|
rs770767475
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000064.4(C3):c.774-4G>A
|
rs368095422
|
0.00019
|
NM_000135.4(FANCA):c.*104G>A
|
rs55859244
|
0.00019
|
NM_000135.4(FANCA):c.*317G>A
|
rs201817705
|
0.00019
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
NM_000136.3(FANCC):c.*254G>A
|
rs773331481
|
0.00019
|
NM_000136.3(FANCC):c.*476A>T
|
rs756786451
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=)
|
rs61737080
|
0.00019
|
NM_000215.4(JAK3):c.*503G>A
|
rs201036874
|
0.00019
|
NM_000215.4(JAK3):c.2680+15G>A
|
rs201288968
|
0.00019
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
NM_000246.4(CIITA):c.*351C>T
|
rs553581549
|
0.00019
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
NM_000355.4(TCN2):c.*405T>C
|
rs539828054
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)
|
rs119103276
|
0.00019
|
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn)
|
rs150790148
|
0.00019
|
NM_000448.3(RAG1):c.653G>A (p.Arg218His)
|
rs202178215
|
0.00019
|
NM_000536.4(RAG2):c.14T>A (p.Met5Lys)
|
rs143415103
|
0.00019
|
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)
|
rs763162669
|
0.00019
|
NM_000628.5(IL10RB):c.645C>T (p.Asp215=)
|
rs148468217
|
0.00019
|
NM_000732.4(CD3D):c.-128G>T
|
rs200171722
|
0.00019
|
NM_001025603.2(RFX5):c.-131-15T>C
|
rs190371864
|
0.00019
|
NM_001033855.3(DCLRE1C):c.306+14A>G
|
rs571280873
|
0.00019
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)
|
rs104895430
|
0.00019
|
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg)
|
rs148697064
|
0.00019
|
NM_001375808.2(LPIN2):c.*1126G>A
|
rs886053750
|
0.00019
|
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=)
|
rs576648874
|
0.00019
|
NM_001558.4(IL10RA):c.*1058A>G
|
rs886047712
|
0.00019
|
NM_001558.4(IL10RA):c.*639C>T
|
rs562410825
|
0.00019
|
NM_001770.6(CD19):c.-16G>A
|
rs201081926
|
0.00019
|
NM_002185.5(IL7R):c.419G>A (p.Arg140Gln)
|
rs200373233
|
0.00019
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_002524.5(NRAS):c.*111A>G
|
rs188272768
|
0.00019
|
NM_003331.5(TYK2):c.1807G>A (p.Val603Met)
|
rs140594440
|
0.00019
|
NM_003331.5(TYK2):c.211T>C (p.Phe71Leu)
|
rs374071090
|
0.00019
|
NM_003839.4(TNFRSF11A):c.*440C>T
|
rs952341053
|
0.00019
|
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser)
|
rs762733251
|
0.00019
|
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)
|
rs201656873
|
0.00019
|
NM_006610.4(MASP2):c.234+6G>A
|
rs183487544
|
0.00019
|
NM_006929.5(SKIC2):c.1341C>T (p.His447=)
|
rs771281472
|
0.00019
|
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val)
|
rs200318261
|
0.00019
|
NM_012275.3(IL36RN):c.*594T>C
|
rs144995197
|
0.00019
|
NM_014140.4(SMARCAL1):c.-164G>A
|
rs767342189
|
0.00019
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_018344.6(SLC29A3):c.*603A>G
|
rs886047120
|
0.00019
|
NM_018389.5(SLC35C1):c.*1418C>A
|
rs575219836
|
0.00019
|
NM_021922.3(FANCE):c.-197C>T
|
rs45570533
|
0.00019
|
NM_021922.3(FANCE):c.-19G>C
|
rs13215706
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032444.4(SLX4):c.*374C>T
|
rs369843531
|
0.00019
|
NM_032444.4(SLX4):c.-21G>C
|
rs200717103
|
0.00019
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)
|
rs767759337
|
0.00019
|
NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=)
|
rs754541465
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu)
|
rs541737648
|
0.00019
|
NM_203447.4(DOCK8):c.1683C>A (p.Asn561Lys)
|
rs372278912
|
0.00019
|
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn)
|
rs150298985
|
0.00019
|
NM_203447.4(DOCK8):c.4241+12G>A
|
rs371073556
|
0.00019
|
NM_000051.4(ATM):c.*2756T>C
|
rs754992709
|
0.00018
|
NM_000178.4(GSS):c.*31C>T
|
rs369754600
|
0.00018
|
NM_000243.3(MEFV):c.*467_*469del
|
rs746257932
|
0.00018
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met)
|
rs201083197
|
0.00018
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_001167.4(XIAP):c.*1705A>G
|
rs766498412
|
0.00018
|
NM_001250.5(CD40):c.-61G>T
|
rs542745249
|
0.00018
|
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His)
|
rs200035357
|
0.00018
|
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)
|
rs201586544
|
0.00018
|
NM_001372051.1(CASP8):c.*124C>T
|
rs886055432
|
0.00018
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_003764.4(STX11):c.*3761G>A
|
rs181610739
|
0.00018
|
NM_005633.4(SOS1):c.*185A>G
|
rs556367844
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_014339.7(IL17RA):c.2038G>T (p.Ala680Ser)
|
rs181468995
|
0.00018
|
NM_016123.4(IRAK4):c.*2725C>G
|
rs766712571
|
0.00018
|
NM_022051.3(EGLN1):c.*371A>C
|
rs923016967
|
0.00018
|
NM_032193.4(RNASEH2C):c.*1977C>T
|
rs886048482
|
0.00018
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000063.6(C2):c.1130-11C>T
|
rs117576077
|
0.00017
|
NM_000063.6(C2):c.936C>G (p.Asn312Lys)
|
rs532091149
|
0.00017
|
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala)
|
rs147116781
|
0.00017
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000211.4(ITGB2):c.-228G>A
|
rs915029945
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_001083116.3(PRF1):c.79G>A (p.Ala27Thr)
|
rs147051158
|
0.00017
|
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met)
|
rs149933993
|
0.00017
|
NM_001375808.2(LPIN2):c.*1874C>G
|
rs75771450
|
0.00017
|
NM_001375808.2(LPIN2):c.*945G>A
|
rs112444822
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)
|
rs145810271
|
0.00017
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
NM_014339.7(IL17RA):c.1919G>A (p.Gly640Glu)
|
rs761619526
|
0.00017
|
NM_020661.4(AICDA):c.*1173C>T
|
rs192088951
|
0.00017
|
NM_021922.3(FANCE):c.-167C>T
|
rs911947663
|
0.00017
|
NM_032193.4(RNASEH2C):c.*385C>A
|
rs757672652
|
0.00017
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
NM_032638.5(GATA2):c.*1544A>G
|
rs886057921
|
0.00017
|
NM_032638.5(GATA2):c.*190C>T
|
rs112947643
|
0.00017
|
NM_033629.4(TREX1):c.-199A>G
|
rs767364235
|
0.00017
|
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)
|
rs371805226
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_182746.3(MCM4):c.240C>T (p.Ile80=)
|
rs148927296
|
0.00017
|
NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln)
|
rs151262535
|
0.00017
|
NM_000022.3(ADA):c.-123G>A
|
rs997075639
|
0.00016
|
NM_000043.6(FAS):c.*1294A>T
|
rs9658778
|
0.00016
|
NM_000051.4(ATM):c.*3204G>A
|
rs181377742
|
0.00016
|
NM_000063.6(C2):c.*82C>T
|
rs747202032
|
0.00016
|
NM_000063.6(C2):c.1716G>C (p.Lys572Asn)
|
rs376278843
|
0.00016
|
NM_000064.4(C3):c.2157G>A (p.Ala719=)
|
rs143671993
|
0.00016
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000136.3(FANCC):c.*483A>G
|
rs548064261
|
0.00016
|
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe)
|
rs750853525
|
0.00016
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
NM_000417.3(IL2RA):c.*889G>A
|
rs147669116
|
0.00016
|
NM_000536.4(RAG2):c.1517G>A (p.Arg506His)
|
rs144812762
|
0.00016
|
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)
|
rs147319483
|
0.00016
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg)
|
rs143245407
|
0.00016
|
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
NM_001065.4(TNFRSF1A):c.*297G>A
|
rs202094667
|
0.00016
|
NM_001083116.3(PRF1):c.*441G>A
|
rs375066000
|
0.00016
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
NM_001167.4(XIAP):c.*6221G>A
|
rs757596272
|
0.00016
|
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met)
|
rs368962978
|
0.00016
|
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)
|
rs145190613
|
0.00016
|
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=)
|
rs149870902
|
0.00016
|
NM_001370466.1(NOD2):c.450G>A (p.Pro150=)
|
rs775281342
|
0.00016
|
NM_001372051.1(CASP8):c.*98C>T
|
rs36155452
|
0.00016
|
NM_001375808.2(LPIN2):c.*660A>G
|
rs754769201
|
0.00016
|
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)
|
rs142378484
|
0.00016
|
NM_002834.5(PTPN11):c.*1806G>A
|
rs766598691
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003331.5(TYK2):c.*174G>A
|
rs534835524
|
0.00016
|
NM_003764.4(STX11):c.*2592C>T
|
rs574438185
|
0.00016
|
NM_003764.4(STX11):c.*3690A>G
|
rs746125580
|
0.00016
|
NM_003764.4(STX11):c.659G>T (p.Arg220Leu)
|
rs140982644
|
0.00016
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_005914.3(MCM4):c.-501A>G
|
rs570195176
|
0.00016
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr)
|
rs185903926
|
0.00016
|
NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile)
|
rs202214079
|
0.00016
|
NM_006949.4(STXBP2):c.1027-10C>T
|
rs201961771
|
0.00016
|
NM_014339.7(IL17RA):c.*3865C>T
|
rs559104346
|
0.00016
|
NM_014339.7(IL17RA):c.*4649G>T
|
rs886057235
|
0.00016
|
NM_016123.4(IRAK4):c.691G>A (p.Asp231Asn)
|
rs111935971
|
0.00016
|
NM_018344.6(SLC29A3):c.-23C>T
|
rs771479944
|
0.00016
|
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)
|
rs147814367
|
0.00016
|
NM_020661.4(AICDA):c.*554T>C
|
rs886049874
|
0.00016
|
NM_032193.4(RNASEH2C):c.*440G>C
|
rs544558074
|
0.00016
|
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu)
|
rs200659526
|
0.00016
|
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met)
|
rs772347588
|
0.00016
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
NM_032638.5(GATA2):c.*581G>A
|
rs758714164
|
0.00016
|
NM_033360.4(KRAS):c.*3575T>C
|
rs749403585
|
0.00016
|
NM_033360.4(KRAS):c.*3672C>G
|
rs188922523
|
0.00016
|
NM_033360.4(KRAS):c.-180G>A
|
rs886049201
|
0.00016
|
NM_133459.4(CCBE1):c.*3862G>A
|
rs368332997
|
0.00016
|
NM_133459.4(CCBE1):c.*70A>G
|
rs771950874
|
0.00016
|
NM_139025.4(ADAMTS13):c.-280G>A
|
rs777585429
|
0.00016
|
NM_139027.6(ADAMTS13):c.-26C>T
|
rs372036592
|
0.00016
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
NM_173841.2(IL1RN):c.-71A>G
|
rs748164399
|
0.00016
|
NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)
|
rs369039102
|
0.00016
|
NM_183235.3(RAB27A):c.*1672T>C
|
rs886051306
|
0.00016
|
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
|
rs144946000
|
0.00016
|
NM_203447.4(DOCK8):c.5296C>T (p.Arg1766Trp)
|
rs201776049
|
0.00016
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000059.4(BRCA2):c.*390A>G
|
rs56003538
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000211.4(ITGB2):c.-101G>A
|
rs1005306661
|
0.00015
|
NM_000211.5(ITGB2):c.228C>T (p.Asp76=)
|
rs368629638
|
0.00015
|
NM_000215.4(JAK3):c.35C>T (p.Pro12Leu)
|
rs56061056
|
0.00015
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
NM_000246.4(CIITA):c.-83C>T
|
rs534663824
|
0.00015
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000417.3(IL2RA):c.*1974C>T
|
rs12722720
|
0.00015
|
NM_000417.3(IL2RA):c.655+4C>T
|
rs373973017
|
0.00015
|
NM_000433.4(NCF2):c.*97A>C
|
rs367946786
|
0.00015
|
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)
|
rs140089249
|
0.00015
|
NM_000538.4(RFXAP):c.*201T>A
|
rs530498685
|
0.00015
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
NM_001375808.2(LPIN2):c.*2557G>A
|
rs890590348
|
0.00015
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
NM_002435.3(MPI):c.1139G>A (p.Ser380Asn)
|
rs141660799
|
0.00015
|
NM_002834.5(PTPN11):c.*720C>T
|
rs770605810
|
0.00015
|
NM_002880.4(RAF1):c.*113T>G
|
rs886057914
|
0.00015
|
NM_003764.4(STX11):c.*1514T>C
|
rs895149662
|
0.00015
|
NM_005546.4(ITK):c.495+12C>T
|
rs376728021
|
0.00015
|
NM_006947.4(SRP72):c.*635C>T
|
rs200981113
|
0.00015
|
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)
|
rs370890802
|
0.00015
|
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)
|
rs143897670
|
0.00015
|
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)
|
rs200202916
|
0.00015
|
NM_032043.3(BRIP1):c.*3827T>C
|
rs1377513104
|
0.00015
|
NM_032193.4(RNASEH2C):c.*747G>A
|
rs201326733
|
0.00015
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser)
|
rs148498685
|
0.00015
|
NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=)
|
rs146314458
|
0.00015
|
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)
|
rs371969268
|
0.00015
|
NM_182746.3(MCM4):c.*453A>G
|
rs945047640
|
0.00015
|
NM_183235.3(RAB27A):c.*1473T>C
|
rs568895039
|
0.00015
|
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln)
|
rs200201944
|
0.00015
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000063.6(C2):c.1169A>C (p.Asp390Ala)
|
rs142088624
|
0.00014
|
NM_000063.6(C2):c.1613C>T (p.Ala538Val)
|
rs140194348
|
0.00014
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
NM_000135.4(FANCA):c.-18G>A
|
rs886038245
|
0.00014
|
NM_000136.3(FANCC):c.*249C>T
|
rs1046795121
|
0.00014
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_000211.4(ITGB2):c.-199G>A
|
rs746349537
|
0.00014
|
NM_000211.5(ITGB2):c.159G>A (p.Gly53=)
|
rs200150384
|
0.00014
|
NM_000215.4(JAK3):c.*501C>T
|
rs192417008
|
0.00014
|
NM_000215.4(JAK3):c.183C>T (p.Ser61=)
|
rs200269517
|
0.00014
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
NM_000243.3(MEFV):c.*679C>G
|
rs886051969
|
0.00014
|
NM_000243.3(MEFV):c.*981A>G
|
rs1354569506
|
0.00014
|
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)
|
rs144735718
|
0.00014
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
NM_000417.3(IL2RA):c.*2178T>A
|
rs886047070
|
0.00014
|
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)
|
rs142803799
|
0.00014
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
NM_000732.6(CD3D):c.274+4C>T
|
rs201299420
|
0.00014
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)
|
rs61751577
|
0.00014
|
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)
|
rs201605654
|
0.00014
|
NM_001083116.3(PRF1):c.630C>T (p.Pro210=)
|
rs144004164
|
0.00014
|
NM_001113378.2(FANCI):c.-10A>G
|
rs372076895
|
0.00014
|
NM_001114636.1(FANCL):c.-26T>A
|
rs367703311
|
0.00014
|
NM_001243133.2(NLRP3):c.-369G>A
|
rs202203407
|
0.00014
|
NM_001250.6(CD40):c.750A>G (p.Pro250=)
|
rs376780996
|
0.00014
|
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)
|
rs140876663
|
0.00014
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
NM_001372051.1(CASP8):c.*686C>T
|
rs1021711220
|
0.00014
|
NM_001378687.1(ATP2C1):c.*176T>C
|
rs752881753
|
0.00014
|
NM_001558.4(IL10RA):c.*9G>A
|
rs377174523
|
0.00014
|
NM_001770.6(CD19):c.390T>A (p.Gly130=)
|
rs573154781
|
0.00014
|
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)
|
rs146182103
|
0.00014
|
NM_002524.5(NRAS):c.*344A>G
|
rs746680042
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr)
|
rs200791116
|
0.00014
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
|
rs138423094
|
0.00014
|
NM_004629.2(FANCG):c.-1C>T
|
rs587777946
|
0.00014
|
NM_005045.4(RELN):c.3009-10G>A
|
rs140358876
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
|
rs139225791
|
0.00014
|
NM_005546.4(ITK):c.1119A>G (p.Gln373=)
|
rs189091977
|
0.00014
|
NM_005633.4(SOS1):c.*1684G>C
|
rs886056012
|
0.00014
|
NM_005914.3(MCM4):c.-473G>A
|
rs537563295
|
0.00014
|
NM_006610.4(MASP2):c.*171A>C
|
rs183998926
|
0.00014
|
NM_012092.4(ICOS):c.*399G>A
|
rs760083763
|
0.00014
|
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=)
|
rs149599324
|
0.00014
|
NM_014339.7(IL17RA):c.*2291C>T
|
rs533866564
|
0.00014
|
NM_016123.4(IRAK4):c.*1115G>T
|
rs886049391
|
0.00014
|
NM_016123.4(IRAK4):c.*2014G>A
|
rs533723416
|
0.00014
|
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)
|
rs373404056
|
0.00014
|
NM_018389.5(SLC35C1):c.*1619C>A
|
rs552263015
|
0.00014
|
NM_018389.5(SLC35C1):c.-569C>T
|
rs886048307
|
0.00014
|
NM_020661.4(AICDA):c.*771T>A
|
rs1189292106
|
0.00014
|
NM_022051.2(EGLN1):c.-437C>T
|
rs886046116
|
0.00014
|
NM_022051.2(EGLN1):c.-901T>C
|
rs886046125
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_032444.4(SLX4):c.-398G>A
|
rs559269050
|
0.00014
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
NM_133459.4(CCBE1):c.*4375T>C
|
rs776172092
|
0.00014
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
NM_182746.3(MCM4):c.*109T>C
|
rs1019587652
|
0.00014
|
NM_183235.3(RAB27A):c.*429C>T
|
rs368212830
|
0.00014
|
NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=)
|
rs568641163
|
0.00014
|
NM_203447.4(DOCK8):c.53+10C>T
|
rs763565243
|
0.00014
|
NM_000051.4(ATM):c.*509G>A
|
rs1329700897
|
0.00013
|
NM_000051.4(ATM):c.*703G>A
|
rs118179262
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000073.3(CD3G):c.*141G>A
|
rs199668856
|
0.00013
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg)
|
rs778865777
|
0.00013
|
NM_000211.5(ITGB2):c.714C>T (p.Asp238=)
|
rs752901414
|
0.00013
|
NM_000215.4(JAK3):c.*403C>T
|
rs1011458072
|
0.00013
|
NM_000222.3(KIT):c.*597C>T
|
rs746982052
|
0.00013
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
NM_000448.3(RAG1):c.597C>T (p.Asn199=)
|
rs148288583
|
0.00013
|
NM_000639.3(FASLG):c.*54A>T
|
rs550027918
|
0.00013
|
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
|
rs141824395
|
0.00013
|
NM_001033855.3(DCLRE1C):c.*1236A>G
|
rs754767922
|
0.00013
|
NM_001079.3(ZAP70):c.-217G>A
|
rs201824270
|
0.00013
|
NM_001083116.3(PRF1):c.1112G>A (p.Arg371Lys)
|
rs199522390
|
0.00013
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn)
|
rs181483148
|
0.00013
|
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)
|
rs367793349
|
0.00013
|
NM_001369369.1(FOXN1):c.724C>T (p.Pro242Ser)
|
rs140921495
|
0.00013
|
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=)
|
rs758223679
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_001430.5(EPAS1):c.*1225C>T
|
rs553535570
|
0.00013
|
NM_002524.5(NRAS):c.*2546C>T
|
rs778203603
|
0.00013
|
NM_002834.5(PTPN11):c.*2731G>A
|
rs768622106
|
0.00013
|
NM_003331.5(TYK2):c.-145C>T
|
rs778404429
|
0.00013
|
NM_003331.5(TYK2):c.630-3C>T
|
rs750663278
|
0.00013
|
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met)
|
rs200043123
|
0.00013
|
NM_003764.4(STX11):c.*3835T>C
|
rs530889870
|
0.00013
|
NM_004629.2(FANCG):c.-56G>A
|
rs967151809
|
0.00013
|
NM_006846.4(SPINK5):c.*229A>C
|
rs759149324
|
0.00013
|
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp)
|
rs146401600
|
0.00013
|
NM_012092.4(ICOS):c.*1004C>G
|
rs866710563
|
0.00013
|
NM_012092.4(ICOS):c.*1869A>C
|
rs931854904
|
0.00013
|
NM_014339.7(IL17RA):c.*2566C>T
|
rs886057221
|
0.00013
|
NM_014339.7(IL17RA):c.*352G>A
|
rs754263270
|
0.00013
|
NM_014339.7(IL17RA):c.*5156A>G
|
rs930099196
|
0.00013
|
NM_014339.7(IL17RA):c.847-14C>G
|
rs201410617
|
0.00013
|
NM_016123.4(IRAK4):c.*1925C>T
|
rs927658723
|
0.00013
|
NM_016123.4(IRAK4):c.*2076C>T
|
rs886049395
|
0.00013
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
NM_020661.4(AICDA):c.*670A>T
|
rs886049873
|
0.00013
|
NM_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
NM_022725.4(FANCF):c.*2074A>G
|
rs576419372
|
0.00013
|
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)
|
rs551573692
|
0.00013
|
NM_032193.4(RNASEH2C):c.*1658G>C
|
rs886048488
|
0.00013
|
NM_032444.4(SLX4):c.*578G>A
|
rs781322530
|
0.00013
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)
|
rs200327756
|
0.00013
|
NM_172351.3(CD46):c.*1641A>G
|
rs886045843
|
0.00013
|
NM_172351.3(CD46):c.*517T>A
|
rs539666226
|
0.00013
|
NM_182746.3(MCM4):c.1829G>A (p.Arg610His)
|
rs151044076
|
0.00013
|
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)
|
rs144492641
|
0.00013
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
NM_206937.2(LIG4):c.*285A>G
|
rs748776641
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000064.4(C3):c.681C>T (p.Tyr227=)
|
rs756694755
|
0.00012
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
0.00012
|
NM_000215.4(JAK3):c.*943G>C
|
rs370189146
|
0.00012
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
NM_000246.4(CIITA):c.294C>T (p.Ile98=)
|
rs200299817
|
0.00012
|
NM_000246.4(CIITA):c.772+8C>T
|
rs557455283
|
0.00012
|
NM_000355.4(TCN2):c.*18C>T
|
rs371703966
|
0.00012
|
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)
|
rs201779957
|
0.00012
|
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys)
|
rs145772007
|
0.00012
|
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)
|
rs141025671
|
0.00012
|
NM_001079.4(ZAP70):c.*274G>A
|
rs55721260
|
0.00012
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001114636.1(FANCL):c.-35C>T
|
rs368688452
|
0.00012
|
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)
|
rs113706344
|
0.00012
|
NM_001375808.2(LPIN2):c.*2866A>C
|
rs17880885
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001430.5(EPAS1):c.*1827C>T
|
rs886056103
|
0.00012
|
NM_001430.5(EPAS1):c.-231C>G
|
rs750848838
|
0.00012
|
NM_001430.5(EPAS1):c.-237C>G
|
rs977976338
|
0.00012
|
NM_001430.5(EPAS1):c.-316C>A
|
rs886056078
|
0.00012
|
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)
|
rs137868226
|
0.00012
|
NM_002693.3(POLG):c.*100G>A
|
rs770839560
|
0.00012
|
NM_002693.3(POLG):c.3644-16T>C
|
rs536522307
|
0.00012
|
NM_002834.5(PTPN11):c.*50C>T
|
rs730880328
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_003839.4(TNFRSF11A):c.*1908T>G
|
rs993985244
|
0.00012
|
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr)
|
rs149715692
|
0.00012
|
NM_005546.4(ITK):c.1411G>A (p.Ala471Thr)
|
rs368438364
|
0.00012
|
NM_012092.4(ICOS):c.591G>A (p.Val197=)
|
rs55655222
|
0.00012
|
NM_014339.7(IL17RA):c.*3093T>C
|
rs755858124
|
0.00012
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
NM_016123.4(IRAK4):c.*1668C>G
|
rs576135948
|
0.00012
|
NM_018389.5(SLC35C1):c.*1127G>A
|
rs187013469
|
0.00012
|
NM_018389.5(SLC35C1):c.*572C>T
|
rs886048318
|
0.00012
|
NM_022051.2(EGLN1):c.-2169C>T
|
rs886046129
|
0.00012
|
NM_022725.4(FANCF):c.*1630G>A
|
rs559054290
|
0.00012
|
NM_032043.3(BRIP1):c.*2656A>G
|
rs1052477488
|
0.00012
|
NM_032043.3(BRIP1):c.*4053T>C
|
rs191840743
|
0.00012
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
NM_033360.4(KRAS):c.*1752A>G
|
rs763217196
|
0.00012
|
NM_133459.4(CCBE1):c.*3788T>A
|
rs886054042
|
0.00012
|
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp)
|
rs147208835
|
0.00012
|
NM_139276.3(STAT3):c.*1497G>A
|
rs190710939
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000061.3(BTK):c.*390G>A
|
rs782012349
|
0.00011
|
NM_000063.6(C2):c.1577A>G (p.Lys526Arg)
|
rs146054348
|
0.00011
|
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)
|
rs139100972
|
0.00011
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_000136.3(FANCC):c.*984G>A
|
rs3780559
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000206.2(IL2RG):c.-66T>C
|
rs960999937
|
0.00011
|
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met)
|
rs376990045
|
0.00011
|
NM_000211.5(ITGB2):c.537C>T (p.Phe179=)
|
rs371548080
|
0.00011
|
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln)
|
rs769571214
|
0.00011
|
NM_000215.4(JAK3):c.*974G>A
|
rs543679158
|
0.00011
|
NM_000215.4(JAK3):c.119G>A (p.Arg40His)
|
rs56384680
|
0.00011
|
NM_000215.4(JAK3):c.649G>A (p.Val217Met)
|
rs202167678
|
0.00011
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000246.4(CIITA):c.*524A>G
|
rs886051644
|
0.00011
|
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)
|
rs201182990
|
0.00011
|
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=)
|
rs201907821
|
0.00011
|
NM_000246.4(CIITA):c.352A>G (p.Ile118Val)
|
rs142443082
|
0.00011
|
NM_000271.5(NPC1):c.-154C>T
|
rs746297876
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000538.3(RFXAP):c.*1551A>G
|
rs939525340
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser)
|
rs141553540
|
0.00011
|
NM_001018113.3(FANCB):c.*151A>G
|
rs1480015600
|
0.00011
|
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=)
|
rs778439805
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
NM_001083116.3(PRF1):c.1144C>T (p.Pro382Ser)
|
rs377367451
|
0.00011
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001167.4(XIAP):c.*1481C>T
|
rs1483818489
|
0.00011
|
NM_001369369.1(FOXN1):c.*533G>A
|
rs763993084
|
0.00011
|
NM_001369369.1(FOXN1):c.*66C>T
|
rs768847497
|
0.00011
|
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)
|
rs201076024
|
0.00011
|
NM_001370466.1(NOD2):c.2382-9T>A
|
rs201759367
|
0.00011
|
NM_001372051.1(CASP8):c.*591T>C
|
rs187758494
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu)
|
rs147203309
|
0.00011
|
NM_001378687.1(ATP2C1):c.*1609A>C
|
rs771461939
|
0.00011
|
NM_001430.5(EPAS1):c.-357G>C
|
rs1028727219
|
0.00011
|
NM_001558.4(IL10RA):c.931T>C (p.Leu311=)
|
rs148808529
|
0.00011
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_003331.5(TYK2):c.-322C>T
|
rs548281602
|
0.00011
|
NM_003331.5(TYK2):c.-79C>G
|
rs921883780
|
0.00011
|
NM_003331.5(TYK2):c.589C>T (p.Arg197Cys)
|
rs376427383
|
0.00011
|
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly)
|
rs753810749
|
0.00011
|
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)
|
rs151053440
|
0.00011
|
NM_003764.4(STX11):c.*1421A>G
|
rs977287898
|
0.00011
|
NM_003764.4(STX11):c.*1428T>G
|
rs990191994
|
0.00011
|
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val)
|
rs757543096
|
0.00011
|
NM_003978.5(PSTPIP1):c.*122G>A
|
rs527679453
|
0.00011
|
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln)
|
rs116463039
|
0.00011
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)
|
rs201627577
|
0.00011
|
NM_005633.4(SOS1):c.*664C>T
|
rs771800455
|
0.00011
|
NM_005914.3(MCM4):c.-407G>A
|
rs546045069
|
0.00011
|
NM_006206.6(PDGFRA):c.*2604G>T
|
rs547925170
|
0.00011
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys)
|
rs370311628
|
0.00011
|
NM_006929.4(SKIC2):c.-273G>A
|
rs886061298
|
0.00011
|
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter)
|
rs200818962
|
0.00011
|
NM_006949.4(STXBP2):c.1356+13C>T
|
rs544312114
|
0.00011
|
NM_012092.4(ICOS):c.597A>G (p.Leu199=)
|
rs145698501
|
0.00011
|
NM_014339.7(IL17RA):c.*1077C>T
|
rs964969985
|
0.00011
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)
|
rs56312115
|
0.00011
|
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn)
|
rs146423891
|
0.00011
|
NM_022051.3(EGLN1):c.-37G>C
|
rs779132675
|
0.00011
|
NM_022725.4(FANCF):c.*1420A>G
|
rs414664
|
0.00011
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_032638.5(GATA2):c.-193C>T
|
rs886057935
|
0.00011
|
NM_032977.4(CASP10):c.*3488G>A
|
rs773594343
|
0.00011
|
NM_033360.4(KRAS):c.*4036A>G
|
rs886049179
|
0.00011
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
NM_133459.4(CCBE1):c.*2771A>G
|
rs886054050
|
0.00011
|
NM_138387.4(G6PC3):c.-164G>A
|
rs886052985
|
0.00011
|
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp)
|
rs138557340
|
0.00011
|
NM_139276.3(STAT3):c.*260G>A
|
rs886052940
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_182746.3(MCM4):c.-15+55C>T
|
rs891829243
|
0.00011
|
NM_182746.3(MCM4):c.899A>G (p.Gln300Arg)
|
rs144012681
|
0.00011
|
NM_199242.3(UNC13D):c.2242G>A (p.Ala748Thr)
|
rs200980507
|
0.00011
|
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val)
|
rs755658263
|
0.00011
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000064.4(C3):c.4030-4C>T
|
rs372612816
|
0.00010
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
NM_000136.3(FANCC):c.*1332A>G
|
rs191983554
|
0.00010
|
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=)
|
rs373452460
|
0.00010
|
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg)
|
rs148038936
|
0.00010
|
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys)
|
rs368371881
|
0.00010
|
NM_000215.4(JAK3):c.*1287A>T
|
rs771793558
|
0.00010
|
NM_000222.3(KIT):c.*1086C>T
|
rs533152310
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu)
|
rs147670132
|
0.00010
|
NM_000271.5(NPC1):c.1947+6C>G
|
rs745432812
|
0.00010
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_000448.3(RAG1):c.*3058A>G
|
rs746468007
|
0.00010
|
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)
|
rs200118565
|
0.00010
|
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile)
|
rs750692726
|
0.00010
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
NM_001079.4(ZAP70):c.828G>A (p.Thr276=)
|
rs200797733
|
0.00010
|
NM_001369369.1(FOXN1):c.*206G>A
|
rs774039480
|
0.00010
|
NM_001369369.1(FOXN1):c.1727C>T (p.Pro576Leu)
|
rs756165992
|
0.00010
|
NM_001375808.2(LPIN2):c.*155G>C
|
rs1470550539
|
0.00010
|
NM_001375808.2(LPIN2):c.*778C>T
|
rs924335721
|
0.00010
|
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro)
|
rs200749792
|
0.00010
|
NM_001770.6(CD19):c.171G>A (p.Pro57=)
|
rs199665700
|
0.00010
|
NM_001814.6(CTSC):c.29C>T (p.Ala10Val)
|
rs765499436
|
0.00010
|
NM_003331.5(TYK2):c.1559G>A (p.Gly520Asp)
|
rs142576987
|
0.00010
|
NM_003331.5(TYK2):c.1806C>T (p.Asn602=)
|
rs765576893
|
0.00010
|
NM_003664.5(AP3B1):c.*101T>C
|
rs766029582
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_003764.4(STX11):c.*1542C>T
|
rs780336029
|
0.00010
|
NM_003764.4(STX11):c.*2389G>A
|
rs191162781
|
0.00010
|
NM_004629.2(FANCG):c.*250C>T
|
rs535188841
|
0.00010
|
NM_005045.4(RELN):c.*136G>A
|
rs886061853
|
0.00010
|
NM_005045.4(RELN):c.1344C>G (p.Gly448=)
|
rs144150588
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
NM_014339.7(IL17RA):c.*4849C>G
|
rs886057239
|
0.00010
|
NM_014339.7(IL17RA):c.*4947G>A
|
rs994588098
|
0.00010
|
NM_014339.7(IL17RA):c.-27C>G
|
rs886057199
|
0.00010
|
NM_014339.7(IL17RA):c.625G>A (p.Val209Met)
|
rs534512644
|
0.00010
|
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln)
|
rs144085995
|
0.00010
|
NM_016123.4(IRAK4):c.*1199G>A
|
rs1016308230
|
0.00010
|
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)
|
rs566110994
|
0.00010
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
NM_032444.4(SLX4):c.*168T>G
|
rs886051975
|
0.00010
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
0.00010
|
NM_032638.5(GATA2):c.*32C>T
|
rs374495352
|
0.00010
|
NM_033360.4(KRAS):c.*2012T>C
|
rs886049190
|
0.00010
|
NM_033629.6(TREX1):c.312G>C (p.Leu104=)
|
rs56162833
|
0.00010
|
NM_080911.3(UNG):c.*313C>G
|
rs886048909
|
0.00010
|
NM_133459.4(CCBE1):c.*1628T>A
|
rs886054065
|
0.00010
|
NM_133459.4(CCBE1):c.*803C>G
|
rs755405287
|
0.00010
|
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln)
|
rs200050824
|
0.00010
|
NM_139027.6(ADAMTS13):c.3400+23C>T
|
rs200547311
|
0.00010
|
NM_139276.3(STAT3):c.*1645C>T
|
rs1055885995
|
0.00010
|
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His)
|
rs186644576
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser)
|
rs778256097
|
0.00010
|
NM_183235.3(RAB27A):c.*1296T>G
|
rs560689599
|
0.00010
|
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg)
|
rs140546511
|
0.00010
|
NM_203447.4(DOCK8):c.53+11C>T
|
rs764626266
|
0.00010
|
NM_206937.2(LIG4):c.*306A>G
|
rs886049945
|
0.00010
|
NM_206937.2(LIG4):c.-101-181T>C
|
rs1009787521
|
0.00010
|
NM_000043.6(FAS):c.251C>T (p.Pro84Leu)
|
rs778483787
|
0.00009
|
NM_000051.4(ATM):c.*1670G>A
|
rs886047623
|
0.00009
|
NM_000051.4(ATM):c.*2153G>A
|
rs1021493177
|
0.00009
|
NM_000051.4(ATM):c.*712A>G
|
rs966180034
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000061.3(BTK):c.*342T>G
|
rs781937023
|
0.00009
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00009
|
NM_000063.6(C2):c.2253C>T (p.Pro751=)
|
rs771797450
|
0.00009
|
NM_000064.4(C3):c.2797-5C>T
|
rs369673832
|
0.00009
|
NM_000064.4(C3):c.3687C>T (p.Asn1229=)
|
rs201108539
|
0.00009
|
NM_000064.4(C3):c.4535G>A (p.Arg1512His)
|
rs142868256
|
0.00009
|
NM_000064.4(C3):c.835G>A (p.Glu279Lys)
|
rs146167974
|
0.00009
|
NM_000064.4(C3):c.928G>A (p.Gly310Arg)
|
rs139527231
|
0.00009
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
NM_000136.3(FANCC):c.*267G>A
|
rs769817519
|
0.00009
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
NM_000204.5(CFI):c.454G>A (p.Val152Met)
|
rs367677199
|
0.00009
|
NM_000211.5(ITGB2):c.729C>T (p.Val243=)
|
rs199735877
|
0.00009
|
NM_000215.4(JAK3):c.*985C>T
|
rs886054272
|
0.00009
|
NM_000215.4(JAK3):c.2097G>A (p.Ala699=)
|
rs571402316
|
0.00009
|
NM_000215.4(JAK3):c.2391A>G (p.Ala797=)
|
rs199910484
|
0.00009
|
NM_000215.4(JAK3):c.2660G>A (p.Arg887His)
|
rs148688786
|
0.00009
|
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)
|
rs369402343
|
0.00009
|
NM_000246.4(CIITA):c.*163C>T
|
rs989760698
|
0.00009
|
NM_000246.4(CIITA):c.*267A>C
|
rs761701057
|
0.00009
|
NM_000246.4(CIITA):c.*303C>T
|
rs779795769
|
0.00009
|
NM_000246.4(CIITA):c.*314C>A
|
rs185592699
|
0.00009
|
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala)
|
rs201080914
|
0.00009
|
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile)
|
rs150452306
|
0.00009
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000355.4(TCN2):c.*520T>C
|
rs953408654
|
0.00009
|
NM_000417.3(IL2RA):c.787C>T (p.Arg263Trp)
|
rs140088691
|
0.00009
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
NM_000433.3(NCF2):c.-264C>T
|
rs150182900
|
0.00009
|
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys)
|
rs150349031
|
0.00009
|
NM_000733.3(CD3E):c.*639T>C
|
rs1415688813
|
0.00009
|
NM_000733.4(CD3E):c.*311C>T
|
rs202056225
|
0.00009
|
NM_001018113.3(FANCB):c.-111A>G
|
rs185118376
|
0.00009
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
0.00009
|
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)
|
rs141889707
|
0.00009
|
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu)
|
rs140885618
|
0.00009
|
NM_001033855.3(DCLRE1C):c.*1407C>T
|
rs886046834
|
0.00009
|
NM_001033855.3(DCLRE1C):c.*490T>C
|
rs1466184504
|
0.00009
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
|
rs200312496
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
NM_001370466.1(NOD2):c.*1013A>G
|
rs549273021
|
0.00009
|
NM_001375808.2(LPIN2):c.*773C>T
|
rs190290283
|
0.00009
|
NM_001375808.2(LPIN2):c.*810G>A
|
rs769197357
|
0.00009
|
NM_001378373.1(MBL2):c.*99T>G
|
rs553395892
|
0.00009
|
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly)
|
rs764052498
|
0.00009
|
NM_001558.4(IL10RA):c.1023C>A (p.His341Gln)
|
rs369418818
|
0.00009
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
NM_001558.4(IL10RA):c.706G>A (p.Val236Ile)
|
rs35473928
|
0.00009
|
NM_001770.6(CD19):c.*180C>T
|
rs886051890
|
0.00009
|
NM_001770.6(CD19):c.988A>G (p.Thr330Ala)
|
rs373066835
|
0.00009
|
NM_001814.6(CTSC):c.-49C>T
|
rs779871521
|
0.00009
|
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)
|
rs200627023
|
0.00009
|
NM_002351.5(SH2D1A):c.*511A>G
|
rs921205093
|
0.00009
|
NM_002351.5(SH2D1A):c.*51_*52del
|
rs769919066
|
0.00009
|
NM_002435.3(MPI):c.818A>G (p.Asn273Ser)
|
rs150525282
|
0.00009
|
NM_002524.5(NRAS):c.*2630G>A
|
rs886045102
|
0.00009
|
NM_002693.3(POLG):c.*122G>A
|
rs886051517
|
0.00009
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
NM_002834.5(PTPN11):c.*2493C>T
|
rs886048977
|
0.00009
|
NM_002834.5(PTPN11):c.*2928A>T
|
rs565075386
|
0.00009
|
NM_002834.5(PTPN11):c.*802G>A
|
rs753900307
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002880.4(RAF1):c.*627C>T
|
rs879160471
|
0.00009
|
NM_002880.4(RAF1):c.*630A>G
|
rs975583754
|
0.00009
|
NM_003331.5(TYK2):c.1398C>T (p.Pro466=)
|
rs200752112
|
0.00009
|
NM_003331.5(TYK2):c.2441C>T (p.Pro814Leu)
|
rs143743593
|
0.00009
|
NM_003331.5(TYK2):c.727C>T (p.Arg243Trp)
|
rs200003143
|
0.00009
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln)
|
rs375541634
|
0.00009
|
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys)
|
rs779039407
|
0.00009
|
NM_003764.4(STX11):c.*1477C>T
|
rs940132309
|
0.00009
|
NM_005045.4(RELN):c.*487C>T
|
rs987784206
|
0.00009
|
NM_005045.4(RELN):c.*81A>G
|
rs560856156
|
0.00009
|
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)
|
rs200428576
|
0.00009
|
NM_005045.4(RELN):c.576A>G (p.Leu192=)
|
rs142874980
|
0.00009
|
NM_005045.4(RELN):c.6072+7G>T
|
rs777197865
|
0.00009
|
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)
|
rs375985673
|
0.00009
|
NM_005546.4(ITK):c.1282C>A (p.Gln428Lys)
|
rs150270557
|
0.00009
|
NM_005633.4(SOS1):c.*1641A>G
|
rs760193823
|
0.00009
|
NM_005914.3(MCM4):c.-721dup
|
rs886062967
|
0.00009
|
NM_006118.4(HAX1):c.*47A>G
|
rs183456651
|
0.00009
|
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser)
|
rs373677176
|
0.00009
|
NM_006846.4(SPINK5):c.*301C>T
|
rs187725907
|
0.00009
|
NM_006947.4(SRP72):c.*839T>C
|
rs757066668
|
0.00009
|
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys)
|
rs201481880
|
0.00009
|
NM_014140.4(SMARCAL1):c.812-15T>C
|
rs375588610
|
0.00009
|
NM_014339.7(IL17RA):c.*1067G>T
|
rs866985543
|
0.00009
|
NM_014339.7(IL17RA):c.*3708G>T
|
rs74634517
|
0.00009
|
NM_015474.4(SAMHD1):c.*362G>A
|
rs886056646
|
0.00009
|
NM_016123.4(IRAK4):c.*2345A>G
|
rs368152755
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
NM_022725.4(FANCF):c.*1512A>G
|
rs571200561
|
0.00009
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
NM_024570.4(RNASEH2B):c.*76T>A
|
rs750903767
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_032043.3(BRIP1):c.*1792G>A
|
rs746869920
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_032444.4(SLX4):c.*887C>T
|
rs557729822
|
0.00009
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
0.00009
|
NM_032977.4(CASP10):c.*1654C>T
|
rs951660640
|
0.00009
|
NM_133459.4(CCBE1):c.*2411C>T
|
rs930821759
|
0.00009
|
NM_133459.4(CCBE1):c.*2953C>A
|
rs79828144
|
0.00009
|
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser)
|
rs369736447
|
0.00009
|
NM_138387.4(G6PC3):c.-178C>A
|
rs767632217
|
0.00009
|
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)
|
rs139951127
|
0.00009
|
NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met)
|
rs375824927
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala)
|
rs374124369
|
0.00009
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
NM_172351.3(CD46):c.*1614G>A
|
rs533116649
|
0.00009
|
NM_173842.3(IL1RN):c.*605T>C
|
rs965074033
|
0.00009
|
NM_183235.3(RAB27A):c.*1842C>T
|
rs1030465363
|
0.00009
|
NM_183235.3(RAB27A):c.-58A>G
|
rs572723752
|
0.00009
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln)
|
rs371162326
|
0.00009
|
NM_199242.3(UNC13D):c.2553+12G>A
|
rs560520169
|
0.00009
|
NM_199242.3(UNC13D):c.2764G>A (p.Ala922Thr)
|
rs763375427
|
0.00009
|
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys)
|
rs535305490
|
0.00009
|
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu)
|
rs373154957
|
0.00009
|
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=)
|
rs150524921
|
0.00009
|
NM_000051.4(ATM):c.*1768C>T
|
rs551571814
|
0.00008
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000073.3(CD3G):c.*500G>A
|
rs886047743
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000178.4(GSS):c.*20G>C
|
rs765434534
|
0.00008
|
NM_000178.4(GSS):c.834+4G>C
|
rs201359061
|
0.00008
|
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)
|
rs200973120
|
0.00008
|
NM_000215.3(JAK3):c.-54C>T
|
rs201353678
|
0.00008
|
NM_000222.3(KIT):c.*17G>A
|
rs377596175
|
0.00008
|
NM_000246.4(CIITA):c.*164G>A
|
rs570910497
|
0.00008
|
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser)
|
rs199728304
|
0.00008
|
NM_000417.3(IL2RA):c.*1766T>C
|
rs961187614
|
0.00008
|
NM_000417.3(IL2RA):c.584-11C>T
|
rs750468923
|
0.00008
|
NM_000417.3(IL2RA):c.693G>A (p.Glu231=)
|
rs139266750
|
0.00008
|
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val)
|
rs61752933
|
0.00008
|
NM_000628.5(IL10RB):c.*536G>T
|
rs750248101
|
0.00008
|
NM_000732.6(CD3D):c.510C>T (p.Asn170=)
|
rs146997233
|
0.00008
|
NM_000733.3(CD3E):c.-166G>A
|
rs886047735
|
0.00008
|
NM_001018113.3(FANCB):c.-230A>T
|
rs1020271259
|
0.00008
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
0.00008
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
NM_001025603.2(RFX5):c.*1078C>T
|
rs886045278
|
0.00008
|
NM_001167.4(XIAP):c.*3001T>A
|
rs765082277
|
0.00008
|
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)
|
rs777798807
|
0.00008
|
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp)
|
rs104895484
|
0.00008
|
NM_001375808.2(LPIN2):c.*984T>C
|
rs546238775
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_001378373.1(MBL2):c.*3G>T
|
rs371397104
|
0.00008
|
NM_001378687.1(ATP2C1):c.*1573G>A
|
rs997233440
|
0.00008
|
NM_001770.6(CD19):c.323A>C (p.Gln108Pro)
|
rs776903049
|
0.00008
|
NM_002185.5(IL7R):c.*304G>A
|
rs896970443
|
0.00008
|
NM_002351.5(SH2D1A):c.*110T>C
|
rs746586521
|
0.00008
|
NM_002435.3(MPI):c.-5C>T
|
rs145533697
|
0.00008
|
NM_002880.4(RAF1):c.-264C>G
|
rs894363344
|
0.00008
|
NM_003331.5(TYK2):c.1342C>T (p.Arg448Trp)
|
rs147991080
|
0.00008
|
NM_003331.5(TYK2):c.3560G>A (p.Cys1187Tyr)
|
rs200932305
|
0.00008
|
NM_003331.5(TYK2):c.372T>C (p.Arg124=)
|
rs371832787
|
0.00008
|
NM_003331.5(TYK2):c.489C>T (p.Asp163=)
|
rs748475805
|
0.00008
|
NM_003331.5(TYK2):c.783C>G (p.Ala261=)
|
rs371939297
|
0.00008
|
NM_003839.4(TNFRSF11A):c.731-11G>A
|
rs372772575
|
0.00008
|
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp)
|
rs768395688
|
0.00008
|
NM_005045.4(RELN):c.9708C>T (p.Ser3236=)
|
rs200370282
|
0.00008
|
NM_005546.4(ITK):c.*672T>C
|
rs142807619
|
0.00008
|
NM_005546.4(ITK):c.844G>A (p.Val282Ile)
|
rs202191474
|
0.00008
|
NM_005633.4(SOS1):c.*1477G>A
|
rs1029291502
|
0.00008
|
NM_005633.4(SOS1):c.*421A>G
|
rs973373222
|
0.00008
|
NM_006846.4(SPINK5):c.1431-10T>G
|
rs759079847
|
0.00008
|
NM_006947.4(SRP72):c.*1483A>G
|
rs566533583
|
0.00008
|
NM_006949.4(STXBP2):c.333C>T (p.Pro111=)
|
rs144233139
|
0.00008
|
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met)
|
rs200135215
|
0.00008
|
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=)
|
rs373070776
|
0.00008
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
NM_022725.4(FANCF):c.*336C>A
|
rs750128615
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00008
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
NM_033360.4(KRAS):c.*2577G>A
|
rs886049186
|
0.00008
|
NM_080911.3(UNG):c.*522A>G
|
rs189054927
|
0.00008
|
NM_133459.4(CCBE1):c.*2023G>C
|
rs540232421
|
0.00008
|
NM_133459.4(CCBE1):c.*3922T>A
|
rs939031016
|
0.00008
|
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=)
|
rs375674582
|
0.00008
|
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)
|
rs140785361
|
0.00008
|
NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp)
|
rs149265456
|
0.00008
|
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)
|
rs200273776
|
0.00008
|
NM_139276.3(STAT3):c.*2002G>A
|
rs531760487
|
0.00008
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
NM_172351.3(CD46):c.887C>T (p.Ala296Val)
|
rs753859532
|
0.00008
|
NM_173842.3(IL1RN):c.*75C>G
|
rs4252026
|
0.00008
|
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)
|
rs757760608
|
0.00008
|
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr)
|
rs375665207
|
0.00008
|
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=)
|
rs753242273
|
0.00008
|
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala)
|
rs137899041
|
0.00008
|
NM_000051.4(ATM):c.*1272C>G
|
rs376572054
|
0.00007
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_000063.6(C2):c.1109C>T (p.Ala370Val)
|
rs777200072
|
0.00007
|
NM_000063.6(C2):c.980A>G (p.Asn327Ser)
|
rs766665783
|
0.00007
|
NM_000064.4(C3):c.1758G>A (p.Glu586=)
|
rs764201055
|
0.00007
|
NM_000064.4(C3):c.2207G>A (p.Arg736Gln)
|
rs578116271
|
0.00007
|
NM_000073.3(CD3G):c.32T>C (p.Ile11Thr)
|
rs201006956
|
0.00007
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000136.3(FANCC):c.*1028C>T
|
rs556229977
|
0.00007
|
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)
|
rs146267300
|
0.00007
|
NM_000204.5(CFI):c.60C>T (p.Val20=)
|
rs776132010
|
0.00007
|
NM_000211.5(ITGB2):c.2283C>T (p.Val761=)
|
rs192197684
|
0.00007
|
NM_000211.5(ITGB2):c.483C>T (p.Thr161=)
|
rs750060536
|
0.00007
|
NM_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
NM_000243.3(MEFV):c.*721T>A
|
rs1184351783
|
0.00007
|
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)
|
rs142848848
|
0.00007
|
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys)
|
rs371519540
|
0.00007
|
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn)
|
rs771338224
|
0.00007
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
NM_000431.4(MVK):c.331G>A (p.Ala111Thr)
|
rs371257609
|
0.00007
|
NM_000448.3(RAG1):c.1A>G (p.Met1Val)
|
rs200575481
|
0.00007
|
NM_000732.6(CD3D):c.418C>A (p.Gln140Lys)
|
rs201126605
|
0.00007
|
NM_001018115.3(FANCD2):c.4281+328G>T
|
rs1231972897
|
0.00007
|
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys)
|
rs373675907
|
0.00007
|
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=)
|
rs369844484
|
0.00007
|
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=)
|
rs189807102
|
0.00007
|
NM_001375808.2(LPIN2):c.*1026C>T
|
rs529650414
|
0.00007
|
NM_001378373.1(MBL2):c.*2067C>T
|
rs542103508
|
0.00007
|
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)
|
rs143562102
|
0.00007
|
NM_001378373.1(MBL2):c.303G>A (p.Pro101=)
|
rs55902142
|
0.00007
|
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=)
|
rs751186032
|
0.00007
|
NM_001430.5(EPAS1):c.*527G>T
|
rs886056091
|
0.00007
|
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)
|
rs755579146
|
0.00007
|
NM_001558.4(IL10RA):c.336C>T (p.Thr112=)
|
rs192749274
|
0.00007
|
NM_002185.5(IL7R):c.*1489G>C
|
rs774913403
|
0.00007
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
|
rs138751237
|
0.00007
|
NM_003764.4(STX11):c.157G>A (p.Asp53Asn)
|
rs749246568
|
0.00007
|
NM_003839.4(TNFRSF11A):c.*322C>A
|
rs372420868
|
0.00007
|
NM_005546.4(ITK):c.139-6C>T
|
rs780173849
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)
|
rs369392502
|
0.00007
|
NM_006846.4(SPINK5):c.1607+7G>T
|
rs541432320
|
0.00007
|
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=)
|
rs759451448
|
0.00007
|
NM_006947.4(SRP72):c.*321A>G
|
rs886059499
|
0.00007
|
NM_006947.4(SRP72):c.*622G>A
|
rs775675334
|
0.00007
|
NM_012275.3(IL36RN):c.244-5G>A
|
rs754661425
|
0.00007
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
NM_014339.7(IL17RA):c.*3523C>T
|
rs886057230
|
0.00007
|
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)
|
rs770597137
|
0.00007
|
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
|
rs775762131
|
0.00007
|
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile)
|
rs768974539
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_032043.3(BRIP1):c.*477A>G
|
rs1030551071
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032193.3(RNASEH2C):c.-186A>C
|
rs931060333
|
0.00007
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
0.00007
|
NM_033629.6(TREX1):c.651G>A (p.Arg217=)
|
rs140199177
|
0.00007
|
NM_052872.4(IL17F):c.243C>G (p.Pro81=)
|
rs769617558
|
0.00007
|
NM_080424.4(SP110):c.237T>G (p.Ser79=)
|
rs202135641
|
0.00007
|
NM_080424.4(SP110):c.842A>G (p.Lys281Arg)
|
rs187168146
|
0.00007
|
NM_080911.3(UNG):c.*445C>T
|
rs769388131
|
0.00007
|
NM_133459.4(CCBE1):c.*1655T>A
|
rs187649543
|
0.00007
|
NM_133459.4(CCBE1):c.131+10G>A
|
rs755608387
|
0.00007
|
NM_144687.3(NLRP12):c.*430G>A
|
rs886054602
|
0.00007
|
NM_144687.4(NLRP12):c.*126G>C
|
rs199475872
|
0.00007
|
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln)
|
rs147907236
|
0.00007
|
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val)
|
rs368362777
|
0.00007
|
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val)
|
rs145265055
|
0.00007
|
NM_182746.3(MCM4):c.*877G>A
|
rs184913079
|
0.00007
|
NM_183235.3(RAB27A):c.*1485G>A
|
rs886051308
|
0.00007
|
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser)
|
rs149099554
|
0.00007
|
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)
|
rs372453702
|
0.00007
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg)
|
rs200265541
|
0.00007
|
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg)
|
rs200869192
|
0.00007
|
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val)
|
rs188422094
|
0.00007
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000022.4(ADA):c.61T>G (p.Ser21Ala)
|
rs139350872
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000043.6(FAS):c.*520T>C
|
rs886047462
|
0.00006
|
NM_000051.3(ATM):c.-186G>A
|
rs879725890
|
0.00006
|
NM_000051.3(ATM):c.-218T>A
|
rs886047609
|
0.00006
|
NM_000051.4(ATM):c.*3091G>A
|
rs886047629
|
0.00006
|
NM_000051.4(ATM):c.-94G>A
|
rs766115348
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000063.6(C2):c.*304A>G
|
rs72842444
|
0.00006
|
NM_000063.6(C2):c.1529G>A (p.Arg510His)
|
rs45476300
|
0.00006
|
NM_000063.6(C2):c.442+15T>G
|
rs776839411
|
0.00006
|
NM_000064.4(C3):c.1098A>G (p.Pro366=)
|
rs757883156
|
0.00006
|
NM_000064.4(C3):c.1119+10G>A
|
rs752328639
|
0.00006
|
NM_000064.4(C3):c.1164C>T (p.Pro388=)
|
rs769368306
|
0.00006
|
NM_000064.4(C3):c.2907C>T (p.Asp969=)
|
rs144672500
|
0.00006
|
NM_000064.4(C3):c.4095C>G (p.Val1365=)
|
rs527830114
|
0.00006
|
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
|
rs768065757
|
0.00006
|
NM_000064.4(C3):c.763A>G (p.Ile255Val)
|
rs746486431
|
0.00006
|
NM_000073.3(CD3G):c.*112C>T
|
rs201272612
|
0.00006
|
NM_000073.3(CD3G):c.*253G>A
|
rs200106650
|
0.00006
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
NM_000135.4(FANCA):c.*447T>C
|
rs771942409
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
NM_000135.4(FANCA):c.3766-14G>A
|
rs34476949
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000136.3(FANCC):c.*1649A>G
|
rs560444013
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000178.4(GSS):c.-18A>G
|
rs886056640
|
0.00006
|
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)
|
rs144082872
|
0.00006
|
NM_000211.5(ITGB2):c.-10A>C
|
rs371741629
|
0.00006
|
NM_000211.5(ITGB2):c.-39G>A
|
rs886057121
|
0.00006
|
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys)
|
rs375038257
|
0.00006
|
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His)
|
rs138714119
|
0.00006
|
NM_000211.5(ITGB2):c.681C>T (p.Ser227=)
|
rs369981986
|
0.00006
|
NM_000211.5(ITGB2):c.768G>A (p.Thr256=)
|
rs201148219
|
0.00006
|
NM_000211.5(ITGB2):c.849C>T (p.Asp283=)
|
rs35013643
|
0.00006
|
NM_000211.5(ITGB2):c.854G>A (p.Arg285His)
|
rs769752245
|
0.00006
|
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)
|
rs143038064
|
0.00006
|
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile)
|
rs138143146
|
0.00006
|
NM_000243.3(MEFV):c.*280G>C
|
rs562541179
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)
|
rs747515115
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000246.4(CIITA):c.1006+12G>A
|
rs368964652
|
0.00006
|
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val)
|
rs200354120
|
0.00006
|
NM_000246.4(CIITA):c.1944A>T (p.Ala648=)
|
rs778678693
|
0.00006
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
NM_000246.4(CIITA):c.5G>A (p.Arg2His)
|
rs755048657
|
0.00006
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
NM_000417.3(IL2RA):c.*1500T>C
|
rs894358573
|
0.00006
|
NM_000417.3(IL2RA):c.584-6C>T
|
rs201675947
|
0.00006
|
NM_000431.4(MVK):c.-15G>A
|
rs567278499
|
0.00006
|
NM_000431.4(MVK):c.527+10G>A
|
rs368909134
|
0.00006
|
NM_000448.3(RAG1):c.*2308G>A
|
rs766934756
|
0.00006
|
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)
|
rs200758244
|
0.00006
|
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met)
|
rs753165042
|
0.00006
|
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg)
|
rs773703055
|
0.00006
|
NM_000543.5(SMPD1):c.1335A>G (p.Val445=)
|
rs769400504
|
0.00006
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
NM_000628.5(IL10RB):c.*616A>G
|
rs886057009
|
0.00006
|
NM_000628.5(IL10RB):c.*761C>T
|
rs567397652
|
0.00006
|
NM_000628.5(IL10RB):c.484G>A (p.Gly162Ser)
|
rs770980693
|
0.00006
|
NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys)
|
rs45469692
|
0.00006
|
NM_000732.6(CD3D):c.-8G>A
|
rs201539938
|
0.00006
|
NM_000733.4(CD3E):c.441G>A (p.Leu147=)
|
rs528492194
|
0.00006
|
NM_001018115.3(FANCD2):c.-33-13G>A
|
rs113338938
|
0.00006
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
0.00006
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
NM_001018115.3(FANCD2):c.4281+257C>T
|
rs886057694
|
0.00006
|
NM_001033855.3(DCLRE1C):c.*11C>T
|
rs374087349
|
0.00006
|
NM_001065.4(TNFRSF1A):c.*195G>A
|
rs3202413
|
0.00006
|
NM_001079.4(ZAP70):c.606C>T (p.Leu202=)
|
rs199943332
|
0.00006
|
NM_001083116.3(PRF1):c.189A>C (p.Thr63=)
|
rs759983785
|
0.00006
|
NM_001083116.3(PRF1):c.961G>A (p.Gly321Arg)
|
rs145234214
|
0.00006
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001243133.2(NLRP3):c.-407C>T
|
rs12741165
|
0.00006
|
NM_001250.6(CD40):c.*310C>G
|
rs886056720
|
0.00006
|
NM_001250.6(CD40):c.498-7T>C
|
rs745435992
|
0.00006
|
NM_001369369.1(FOXN1):c.*280C>G
|
rs532847274
|
0.00006
|
NM_001369369.1(FOXN1):c.*622C>G
|
rs886052763
|
0.00006
|
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)
|
rs560242309
|
0.00006
|
NM_001375808.2(LPIN2):c.*1514G>C
|
rs544570644
|
0.00006
|
NM_001375808.2(LPIN2):c.*2412C>T
|
rs553336397
|
0.00006
|
NM_001375808.2(LPIN2):c.*725G>A
|
rs886053755
|
0.00006
|
NM_001375808.2(LPIN2):c.*84A>G
|
rs886053764
|
0.00006
|
NM_001375808.2(LPIN2):c.*897T>G
|
rs886053752
|
0.00006
|
NM_001375808.2(LPIN2):c.-10+1170G>A
|
rs751000184
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001378373.1(MBL2):c.*1287C>T
|
rs551861672
|
0.00006
|
NM_001378687.1(ATP2C1):c.*1255G>A
|
rs886057991
|
0.00006
|
NM_001430.5(EPAS1):c.-102C>G
|
rs886056082
|
0.00006
|
NM_001558.4(IL10RA):c.*676C>T
|
rs756303257
|
0.00006
|
NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met)
|
rs370255112
|
0.00006
|
NM_001558.4(IL10RA):c.785G>A (p.Arg262His)
|
rs202121581
|
0.00006
|
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu)
|
rs749622044
|
0.00006
|
NM_001814.6(CTSC):c.948G>C (p.Leu316=)
|
rs145373075
|
0.00006
|
NM_002435.3(MPI):c.*289A>G
|
rs1405523963
|
0.00006
|
NM_002524.5(NRAS):c.*2767C>T
|
rs766572336
|
0.00006
|
NM_002524.5(NRAS):c.*651C>T
|
rs754089086
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_002755.4(MAP2K1):c.*148_*149del
|
rs745540522
|
0.00006
|
NM_002834.5(PTPN11):c.*3231T>G
|
rs769489372
|
0.00006
|
NM_002834.5(PTPN11):c.*64C>G
|
rs763895470
|
0.00006
|
NM_002834.5(PTPN11):c.*740C>T
|
rs886048969
|
0.00006
|
NM_003331.5(TYK2):c.2176-9C>T
|
rs370673325
|
0.00006
|
NM_003331.5(TYK2):c.329G>A (p.Arg110Gln)
|
rs56090991
|
0.00006
|
NM_003331.5(TYK2):c.493G>A (p.Ala165Thr)
|
rs370420133
|
0.00006
|
NM_003664.5(AP3B1):c.*507G>A
|
rs865863660
|
0.00006
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
NM_003721.4(RFXANK):c.338-13C>G
|
rs749579925
|
0.00006
|
NM_003764.4(STX11):c.*3347C>T
|
rs1036474111
|
0.00006
|
NM_003764.4(STX11):c.*37A>G
|
rs375397736
|
0.00006
|
NM_003764.4(STX11):c.*4195G>A
|
rs540467361
|
0.00006
|
NM_003764.4(STX11):c.*775G>A
|
rs549630242
|
0.00006
|
NM_003764.4(STX11):c.*893G>A
|
rs1029852669
|
0.00006
|
NM_003839.4(TNFRSF11A):c.*214G>A
|
rs886054085
|
0.00006
|
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp)
|
rs199863919
|
0.00006
|
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=)
|
rs149842577
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe)
|
rs200373269
|
0.00006
|
NM_005045.4(RELN):c.3642C>T (p.Val1214=)
|
rs151252449
|
0.00006
|
NM_005045.4(RELN):c.3712-5A>G
|
rs370671369
|
0.00006
|
NM_005045.4(RELN):c.5025C>T (p.Pro1675=)
|
rs748927848
|
0.00006
|
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser)
|
rs374941914
|
0.00006
|
NM_005546.4(ITK):c.-95A>G
|
rs117806853
|
0.00006
|
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser)
|
rs190222208
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_006206.6(PDGFRA):c.*1971C>T
|
rs886059459
|
0.00006
|
NM_006206.6(PDGFRA):c.*2110C>T
|
rs777478254
|
0.00006
|
NM_006206.6(PDGFRA):c.*936A>C
|
rs886059452
|
0.00006
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln)
|
rs770044946
|
0.00006
|
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
|
rs765752936
|
0.00006
|
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=)
|
rs201674667
|
0.00006
|
NM_006846.4(SPINK5):c.1820+11G>A
|
rs796478719
|
0.00006
|
NM_006929.4(SKIC2):c.-195C>T
|
rs886061301
|
0.00006
|
NM_006929.4(SKIC2):c.-22A>T
|
rs755276769
|
0.00006
|
NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser)
|
rs149518958
|
0.00006
|
NM_006929.5(SKIC2):c.1404-15C>G
|
rs764954300
|
0.00006
|
NM_006947.4(SRP72):c.*1241C>T
|
rs1282273094
|
0.00006
|
NM_012092.4(ICOS):c.*939A>G
|
rs563893351
|
0.00006
|
NM_012275.3(IL36RN):c.*6C>T
|
rs189986394
|
0.00006
|
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)
|
rs529024384
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014339.7(IL17RA):c.*2703G>A
|
rs189556719
|
0.00006
|
NM_014339.7(IL17RA):c.*3667C>T
|
rs886057231
|
0.00006
|
NM_014339.7(IL17RA):c.*4827A>G
|
rs886057238
|
0.00006
|
NM_014339.7(IL17RA):c.*900G>A
|
rs1327480980
|
0.00006
|
NM_014339.7(IL17RA):c.-39C>T
|
rs775719038
|
0.00006
|
NM_014339.7(IL17RA):c.1931G>C (p.Gly644Ala)
|
rs749845273
|
0.00006
|
NM_014339.7(IL17RA):c.812G>A (p.Arg271His)
|
rs775839180
|
0.00006
|
NM_016123.3(IRAK4):c.-89G>T
|
rs1001546175
|
0.00006
|
NM_016123.4(IRAK4):c.*1515C>T
|
rs536073958
|
0.00006
|
NM_016123.4(IRAK4):c.613G>A (p.Val205Ile)
|
rs370225662
|
0.00006
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
NM_018344.6(SLC29A3):c.*318C>T
|
rs527551448
|
0.00006
|
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)
|
rs756683159
|
0.00006
|
NM_020661.4(AICDA):c.*1010C>T
|
rs1018192148
|
0.00006
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
NM_022051.2(EGLN1):c.-1590C>T
|
rs368110035
|
0.00006
|
NM_022051.2(EGLN1):c.-461C>A
|
rs886046117
|
0.00006
|
NM_022051.2(EGLN1):c.-969G>A
|
rs766034321
|
0.00006
|
NM_022051.3(EGLN1):c.*1911C>T
|
rs886046097
|
0.00006
|
NM_022051.3(EGLN1):c.*965A>G
|
rs773908732
|
0.00006
|
NM_022725.4(FANCF):c.*1535T>A
|
rs886048151
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032444.4(SLX4):c.-19G>A
|
rs113845637
|
0.00006
|
NM_032444.4(SLX4):c.-395C>T
|
rs886051984
|
0.00006
|
NM_032444.4(SLX4):c.-41A>G
|
rs772911988
|
0.00006
|
NM_032444.4(SLX4):c.-46G>A
|
rs113023461
|
0.00006
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00006
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
NM_032638.5(GATA2):c.*1146A>G
|
rs776209943
|
0.00006
|
NM_032638.5(GATA2):c.*174G>A
|
rs373617135
|
0.00006
|
NM_032977.4(CASP10):c.*1257G>A
|
rs886055414
|
0.00006
|
NM_032977.4(CASP10):c.*3365A>G
|
rs886055429
|
0.00006
|
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu)
|
rs770997816
|
0.00006
|
NM_033360.4(KRAS):c.*1622G>A
|
rs886049194
|
0.00006
|
NM_033360.4(KRAS):c.*2605G>A
|
rs779071703
|
0.00006
|
NM_033360.4(KRAS):c.*2815C>T
|
rs886049185
|
0.00006
|
NM_033360.4(KRAS):c.*297C>T
|
rs886049197
|
0.00006
|
NM_033629.4(TREX1):c.-287C>T
|
rs377157141
|
0.00006
|
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)
|
rs761651331
|
0.00006
|
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)
|
rs200397055
|
0.00006
|
NM_080911.3(UNG):c.*573G>C
|
rs1028482157
|
0.00006
|
NM_080911.3(UNG):c.*611C>T
|
rs886048911
|
0.00006
|
NM_133459.4(CCBE1):c.*126G>A
|
rs762712892
|
0.00006
|
NM_133459.4(CCBE1):c.*1421C>A
|
rs770614078
|
0.00006
|
NM_133459.4(CCBE1):c.*19C>T
|
rs376780422
|
0.00006
|
NM_133459.4(CCBE1):c.*2143G>A
|
rs557473811
|
0.00006
|
NM_133459.4(CCBE1):c.*3809C>T
|
rs1008249593
|
0.00006
|
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala)
|
rs779584053
|
0.00006
|
NM_139027.6(ADAMTS13):c.*41G>A
|
rs369498637
|
0.00006
|
NM_139027.6(ADAMTS13):c.1435+11C>T
|
rs377454829
|
0.00006
|
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr)
|
rs782396358
|
0.00006
|
NM_139027.6(ADAMTS13):c.3044+10C>T
|
rs375335095
|
0.00006
|
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val)
|
rs587697598
|
0.00006
|
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser)
|
rs886063632
|
0.00006
|
NM_152564.5(VPS13B):c.*304C>T
|
rs913240465
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn)
|
rs1419202718
|
0.00006
|
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala)
|
rs147448147
|
0.00006
|
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly)
|
rs140061281
|
0.00006
|
NM_172351.3(CD46):c.*968T>A
|
rs768037862
|
0.00006
|
NM_172351.3(CD46):c.574G>C (p.Asp192His)
|
rs368371683
|
0.00006
|
NM_173170.1(IL36RN):c.-27-318G>A
|
rs759570472
|
0.00006
|
NM_182746.3(MCM4):c.*315G>A
|
rs751753458
|
0.00006
|
NM_183235.3(RAB27A):c.*1156T>G
|
rs747438491
|
0.00006
|
NM_183235.3(RAB27A):c.*1170T>G
|
rs574506558
|
0.00006
|
NM_183235.3(RAB27A):c.*1669A>G
|
rs981927108
|
0.00006
|
NM_183235.3(RAB27A):c.*814G>A
|
rs146798701
|
0.00006
|
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)
|
rs776920896
|
0.00006
|
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys)
|
rs755931780
|
0.00006
|
NM_203447.4(DOCK8):c.1402G>A (p.Val468Ile)
|
rs750286236
|
0.00006
|
NM_203447.4(DOCK8):c.1797+13A>C
|
rs776147775
|
0.00006
|
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys)
|
rs267602235
|
0.00006
|
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His)
|
rs767874435
|
0.00006
|
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
|
rs768563098
|
0.00006
|
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)
|
rs138021217
|
0.00006
|
NM_000051.4(ATM):c.*222C>T
|
rs760852487
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000059.4(BRCA2):c.*134C>T
|
rs1228334381
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000063.6(C2):c.*141C>T
|
rs1026987640
|
0.00005
|
NM_000063.6(C2):c.-36G>A
|
rs758966628
|
0.00005
|
NM_000063.6(C2):c.386G>A (p.Arg129His)
|
rs367996721
|
0.00005
|
NM_000064.4(C3):c.1119+14C>T
|
rs374368486
|
0.00005
|
NM_000064.4(C3):c.1470C>T (p.Tyr490=)
|
rs762635358
|
0.00005
|
NM_000064.4(C3):c.1819A>G (p.Lys607Glu)
|
rs140637006
|
0.00005
|
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)
|
rs769873702
|
0.00005
|
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)
|
rs140928439
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000136.3(FANCC):c.*884C>T
|
rs1038927110
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000211.5(ITGB2):c.*148C>T
|
rs753098490
|
0.00005
|
NM_000211.5(ITGB2):c.*170C>T
|
rs952815585
|
0.00005
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
NM_000211.5(ITGB2):c.897+14C>A
|
rs374471192
|
0.00005
|
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)
|
rs35785705
|
0.00005
|
NM_000222.3(KIT):c.*701A>G
|
rs747912015
|
0.00005
|
NM_000243.3(MEFV):c.*579C>A
|
rs1026430345
|
0.00005
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
NM_000246.4(CIITA):c.*203C>T
|
rs527874709
|
0.00005
|
NM_000246.4(CIITA):c.3063-12G>T
|
rs559875711
|
0.00005
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly)
|
rs748432821
|
0.00005
|
NM_000355.4(TCN2):c.-34A>G
|
rs199511962
|
0.00005
|
NM_000431.4(MVK):c.*333G>A
|
rs770255513
|
0.00005
|
NM_000448.3(RAG1):c.*1705A>G
|
rs886048264
|
0.00005
|
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser)
|
rs752304188
|
0.00005
|
NM_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
0.00005
|
NM_001025603.2(RFX5):c.*1330C>T
|
rs886045276
|
0.00005
|
NM_001033855.3(DCLRE1C):c.*482T>C
|
rs886046844
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe)
|
rs371574765
|
0.00005
|
NM_001083116.3(PRF1):c.*664A>G
|
rs886047106
|
0.00005
|
NM_001083116.3(PRF1):c.1111A>G (p.Arg371Gly)
|
rs566891566
|
0.00005
|
NM_001083116.3(PRF1):c.591C>T (p.Leu197=)
|
rs767273601
|
0.00005
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001243133.2(NLRP3):c.-122T>C
|
rs202234129
|
0.00005
|
NM_001250.6(CD40):c.*676C>T
|
rs933970936
|
0.00005
|
NM_001250.6(CD40):c.622A>G (p.Ile208Val)
|
rs199581355
|
0.00005
|
NM_001369369.1(FOXN1):c.*15C>T
|
rs557508550
|
0.00005
|
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)
|
rs368024968
|
0.00005
|
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)
|
rs139571975
|
0.00005
|
NM_001370466.1(NOD2):c.789C>T (p.Asp263=)
|
rs749180535
|
0.00005
|
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)
|
rs777463099
|
0.00005
|
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr)
|
rs540544894
|
0.00005
|
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr)
|
rs181542503
|
0.00005
|
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=)
|
rs148190902
|
0.00005
|
NM_001430.5(EPAS1):c.*117T>A
|
rs886056089
|
0.00005
|
NM_001430.5(EPAS1):c.*1790G>A
|
rs532892029
|
0.00005
|
NM_001770.6(CD19):c.*151G>A
|
rs879933623
|
0.00005
|
NM_002351.5(SH2D1A):c.*1077G>A
|
rs778956197
|
0.00005
|
NM_002351.5(SH2D1A):c.*1192A>G
|
rs1355524556
|
0.00005
|
NM_002351.5(SH2D1A):c.*647G>A
|
rs770056649
|
0.00005
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002524.5(NRAS):c.*3062C>T
|
rs886045098
|
0.00005
|
NM_002880.4(RAF1):c.-53G>A
|
rs985291322
|
0.00005
|
NM_003331.5(TYK2):c.*173C>T
|
rs766203641
|
0.00005
|
NM_003331.5(TYK2):c.-37C>T
|
rs1166754820
|
0.00005
|
NM_003331.5(TYK2):c.1851G>A (p.Glu617=)
|
rs780346579
|
0.00005
|
NM_003331.5(TYK2):c.2038G>A (p.Gly680Ser)
|
rs745582179
|
0.00005
|
NM_003331.5(TYK2):c.2687A>G (p.Tyr896Cys)
|
rs372017111
|
0.00005
|
NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys)
|
rs529855217
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe)
|
rs142461365
|
0.00005
|
NM_003839.4(TNFRSF11A):c.*223G>A
|
rs886054086
|
0.00005
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)
|
rs201481342
|
0.00005
|
NM_004333.6(BRAF):c.2196C>G (p.Ser732=)
|
rs142592480
|
0.00005
|
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)
|
rs587778114
|
0.00005
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
NM_005045.4(RELN):c.338-9T>C
|
rs759501468
|
0.00005
|
NM_005546.4(ITK):c.*1761T>A
|
rs886060333
|
0.00005
|
NM_005546.4(ITK):c.496-4C>G
|
rs749411240
|
0.00005
|
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)
|
rs199898869
|
0.00005
|
NM_005633.4(SOS1):c.864+12A>C
|
rs374379005
|
0.00005
|
NM_005914.3(MCM4):c.-347C>A
|
rs886062970
|
0.00005
|
NM_005914.3(MCM4):c.-372G>A
|
rs17334298
|
0.00005
|
NM_006206.6(PDGFRA):c.*2079A>G
|
rs187487079
|
0.00005
|
NM_006397.3(RNASEH2A):c.*68C>T
|
rs564029348
|
0.00005
|
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met)
|
rs370225385
|
0.00005
|
NM_006610.4(MASP2):c.86G>A (p.Arg29His)
|
rs375887709
|
0.00005
|
NM_006846.4(SPINK5):c.*90G>A
|
rs978677310
|
0.00005
|
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=)
|
rs773575515
|
0.00005
|
NM_012092.4(ICOS):c.*77C>T
|
rs769887283
|
0.00005
|
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His)
|
rs141881295
|
0.00005
|
NM_014339.7(IL17RA):c.*4404C>T
|
rs558883229
|
0.00005
|
NM_014339.7(IL17RA):c.*973A>G
|
rs747949566
|
0.00005
|
NM_014339.7(IL17RA):c.603C>G (p.Ser201Arg)
|
rs369409494
|
0.00005
|
NM_016123.4(IRAK4):c.*2374A>G
|
rs892426318
|
0.00005
|
NM_016123.4(IRAK4):c.742C>T (p.Leu248=)
|
rs375755560
|
0.00005
|
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)
|
rs371482940
|
0.00005
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
NM_022725.4(FANCF):c.*499T>C
|
rs566136504
|
0.00005
|
NM_032043.3(BRIP1):c.*2692A>G
|
rs886053204
|
0.00005
|
NM_032043.3(BRIP1):c.*659G>A
|
rs769375960
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_032193.4(RNASEH2C):c.*1532G>A
|
rs376966597
|
0.00005
|
NM_032193.4(RNASEH2C):c.*541C>T
|
rs756513194
|
0.00005
|
NM_032444.4(SLX4):c.*98A>G
|
rs551538592
|
0.00005
|
NM_032444.4(SLX4):c.-602-6C>G
|
rs886051986
|
0.00005
|
NM_032444.4(SLX4):c.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00005
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
0.00005
|
NM_032977.4(CASP10):c.*3835G>A
|
rs536525827
|
0.00005
|
NM_033360.4(KRAS):c.*2391_*2392insC
|
rs886049188
|
0.00005
|
NM_133459.4(CCBE1):c.*182C>A
|
rs1023099526
|
0.00005
|
NM_133459.4(CCBE1):c.*2901T>A
|
rs151072136
|
0.00005
|
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly)
|
rs149792489
|
0.00005
|
NM_138387.4(G6PC3):c.-231A>G
|
rs886052983
|
0.00005
|
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn)
|
rs782518928
|
0.00005
|
NM_139027.6(ADAMTS13):c.540-3G>A
|
rs886063631
|
0.00005
|
NM_139276.3(STAT3):c.*607C>T
|
rs969407289
|
0.00005
|
NM_144687.4(NLRP12):c.1951T>C (p.Ser651Pro)
|
rs370478544
|
0.00005
|
NM_152564.5(VPS13B):c.*705T>C
|
rs886062554
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp)
|
rs117357319
|
0.00005
|
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe)
|
rs763052877
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_172351.3(CD46):c.*1665G>A
|
rs886045845
|
0.00005
|
NM_182746.3(MCM4):c.*1266G>A
|
rs539412503
|
0.00005
|
NM_182746.3(MCM4):c.*357A>C
|
rs1049961235
|
0.00005
|
NM_182746.3(MCM4):c.-33A>G
|
rs1166597379
|
0.00005
|
NM_182746.3(MCM4):c.891C>T (p.Pro297=)
|
rs148576543
|
0.00005
|
NM_199242.3(UNC13D):c.*317C>T
|
rs767459692
|
0.00005
|
NM_199242.3(UNC13D):c.*502C>A
|
rs987164404
|
0.00005
|
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser)
|
rs149521894
|
0.00005
|
NM_203447.4(DOCK8):c.5672G>A (p.Arg1891Gln)
|
rs368477654
|
0.00005
|
NM_206937.2(LIG4):c.*242A>G
|
rs886049946
|
0.00005
|
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
NM_000051.3(ATM):c.-274G>A
|
rs886047606
|
0.00004
|
NM_000051.3(ATM):c.-398G>A
|
rs996438197
|
0.00004
|
NM_000051.4(ATM):c.*3579T>G
|
rs912006598
|
0.00004
|
NM_000051.4(ATM):c.*690T>C
|
rs751932227
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000059.4(BRCA2):c.*623C>T
|
rs145550800
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000063.6(C2):c.1981G>A (p.Asp661Asn)
|
rs374481091
|
0.00004
|
NM_000063.6(C2):c.245C>T (p.Ala82Val)
|
rs547881286
|
0.00004
|
NM_000064.4(C3):c.1508C>T (p.Ala503Val)
|
rs781417846
|
0.00004
|
NM_000064.4(C3):c.3024G>A (p.Ser1008=)
|
rs779366181
|
0.00004
|
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro)
|
rs750654763
|
0.00004
|
NM_000064.4(C3):c.4353C>G (p.Val1451=)
|
rs750821412
|
0.00004
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
NM_000081.4(LYST):c.110C>T (p.Thr37Met)
|
rs375106444
|
0.00004
|
NM_000081.4(LYST):c.11354G>A (p.Arg3785His)
|
rs370173269
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000121.4(EPOR):c.-25G>A
|
rs1368665202
|
0.00004
|
NM_000135.4(FANCA):c.*166G>A
|
rs886052479
|
0.00004
|
NM_000135.4(FANCA):c.*42A>T
|
rs529748804
|
0.00004
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000136.3(FANCC):c.*1197A>G
|
rs1026341216
|
0.00004
|
NM_000136.3(FANCC):c.*1675A>G
|
rs183099416
|
0.00004
|
NM_000136.3(FANCC):c.*1901C>T
|
rs756111303
|
0.00004
|
NM_000136.3(FANCC):c.*2308G>A
|
rs1042363957
|
0.00004
|
NM_000136.3(FANCC):c.-246A>G
|
rs1000528763
|
0.00004
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000178.4(GSS):c.*181C>T
|
rs773689812
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000204.5(CFI):c.57+9T>C
|
rs189973137
|
0.00004
|
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
|
rs751111134
|
0.00004
|
NM_000211.4(ITGB2):c.-104C>T
|
rs754249152
|
0.00004
|
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr)
|
rs148775158
|
0.00004
|
NM_000215.4(JAK3):c.*1014C>T
|
rs560529368
|
0.00004
|
NM_000215.4(JAK3):c.*847C>T
|
rs886054273
|
0.00004
|
NM_000215.4(JAK3):c.2254C>T (p.Leu752=)
|
rs200123352
|
0.00004
|
NM_000215.4(JAK3):c.2350+7G>A
|
rs200658439
|
0.00004
|
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys)
|
rs201241352
|
0.00004
|
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)
|
rs200746503
|
0.00004
|
NM_000215.4(JAK3):c.2630C>T (p.Ala877Val)
|
rs201869359
|
0.00004
|
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)
|
rs199939250
|
0.00004
|
NM_000215.4(JAK3):c.2806-14C>G
|
rs976222264
|
0.00004
|
NM_000222.3(KIT):c.*1808A>G
|
rs762662037
|
0.00004
|
NM_000243.3(MEFV):c.*695C>G
|
rs1596349291
|
0.00004
|
NM_000243.3(MEFV):c.*761del
|
rs886051967
|
0.00004
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
NM_000246.4(CIITA):c.*1092C>T
|
rs886051646
|
0.00004
|
NM_000246.4(CIITA):c.*824T>C
|
rs773206666
|
0.00004
|
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu)
|
rs141006925
|
0.00004
|
NM_000246.4(CIITA):c.3012C>T (p.Val1004=)
|
rs751445508
|
0.00004
|
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys)
|
rs747047617
|
0.00004
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000355.3(TCN2):c.-191G>A
|
rs886057394
|
0.00004
|
NM_000355.3(TCN2):c.-240G>A
|
rs16988823
|
0.00004
|
NM_000361.3(THBD):c.675C>T (p.Thr225=)
|
rs775568682
|
0.00004
|
NM_000417.3(IL2RA):c.427G>A (p.Val143Met)
|
rs886047082
|
0.00004
|
NM_000431.4(MVK):c.14T>C (p.Val5Ala)
|
rs141765653
|
0.00004
|
NM_000433.4(NCF2):c.636C>T (p.Asp212=)
|
rs774027102
|
0.00004
|
NM_000448.3(RAG1):c.*1732C>T
|
rs938546665
|
0.00004
|
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)
|
rs202189218
|
0.00004
|
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)
|
rs753042511
|
0.00004
|
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr)
|
rs148393376
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000628.5(IL10RB):c.*515C>T
|
rs767017864
|
0.00004
|
NM_000639.2(FASLG):c.-136G>A
|
rs55804267
|
0.00004
|
NM_000639.3(FASLG):c.*306A>C
|
rs556639319
|
0.00004
|
NM_000732.6(CD3D):c.-77G>A
|
rs1006260323
|
0.00004
|
NM_000733.4(CD3E):c.*559G>C
|
rs909859167
|
0.00004
|
NM_000733.4(CD3E):c.-73T>C
|
rs867899567
|
0.00004
|
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr)
|
rs200258299
|
0.00004
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+534G>A
|
rs886057696
|
0.00004
|
NM_001025603.2(RFX5):c.117-13C>T
|
rs371670135
|
0.00004
|
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn)
|
rs371115213
|
0.00004
|
NM_001025603.2(RFX5):c.433G>C (p.Asp145His)
|
rs999104857
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)
|
rs746552030
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=)
|
rs114767681
|
0.00004
|
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile)
|
rs754602932
|
0.00004
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
NM_001079.4(ZAP70):c.837+6T>C
|
rs199639189
|
0.00004
|
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu)
|
rs201386206
|
0.00004
|
NM_001083116.3(PRF1):c.-82G>A
|
rs886047112
|
0.00004
|
NM_001083116.3(PRF1):c.592G>A (p.Gly198Arg)
|
rs759235360
|
0.00004
|
NM_001113378.2(FANCI):c.-56T>C
|
rs374177639
|
0.00004
|
NM_001113378.2(FANCI):c.1512+3A>G
|
rs760846523
|
0.00004
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
NM_001243133.2(NLRP3):c.-629C>T
|
rs200090360
|
0.00004
|
NM_001243133.2(NLRP3):c.-74G>A
|
rs202076321
|
0.00004
|
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)
|
rs895366086
|
0.00004
|
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)
|
rs200089542
|
0.00004
|
NM_001250.6(CD40):c.*119C>T
|
rs746182207
|
0.00004
|
NM_001250.6(CD40):c.*216A>C
|
rs886056719
|
0.00004
|
NM_001250.6(CD40):c.249C>T (p.Cys83=)
|
rs776893342
|
0.00004
|
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)
|
rs149225004
|
0.00004
|
NM_001369369.1(FOXN1):c.1921A>G (p.Ser641Gly)
|
rs146028232
|
0.00004
|
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=)
|
rs184956155
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)
|
rs770915641
|
0.00004
|
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)
|
rs142559533
|
0.00004
|
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=)
|
rs104895454
|
0.00004
|
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)
|
rs104895457
|
0.00004
|
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp)
|
rs373838219
|
0.00004
|
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)
|
rs529640892
|
0.00004
|
NM_001372051.1(CASP8):c.*891C>T
|
rs1316267855
|
0.00004
|
NM_001375808.2(LPIN2):c.*1559A>G
|
rs886053748
|
0.00004
|
NM_001375808.2(LPIN2):c.*1810A>G
|
rs886740636
|
0.00004
|
NM_001375808.2(LPIN2):c.*2724A>G
|
rs886053744
|
0.00004
|
NM_001375808.2(LPIN2):c.*804G>A
|
rs1294529732
|
0.00004
|
NM_001375808.2(LPIN2):c.*828T>G
|
rs776259595
|
0.00004
|
NM_001375808.2(LPIN2):c.*834G>A
|
rs886053753
|
0.00004
|
NM_001375808.2(LPIN2):c.-10+1219C>T
|
rs762246311
|
0.00004
|
NM_001375808.2(LPIN2):c.1456+4C>G
|
rs373685201
|
0.00004
|
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)
|
rs372850864
|
0.00004
|
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys)
|
rs371299772
|
0.00004
|
NM_001378373.1(MBL2):c.*1452A>T
|
rs186828712
|
0.00004
|
NM_001378687.1(ATP2C1):c.*127A>G
|
rs767826698
|
0.00004
|
NM_001378687.1(ATP2C1):c.*1604T>C
|
rs1259901914
|
0.00004
|
NM_001430.5(EPAS1):c.*1290C>T
|
rs780890954
|
0.00004
|
NM_001430.5(EPAS1):c.*1305G>A
|
rs78664136
|
0.00004
|
NM_001430.5(EPAS1):c.192G>T (p.Leu64=)
|
rs750515166
|
0.00004
|
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val)
|
rs749988999
|
0.00004
|
NM_001430.5(EPAS1):c.26+8G>A
|
rs750007571
|
0.00004
|
NM_001558.4(IL10RA):c.*1722T>C
|
rs886047714
|
0.00004
|
NM_001558.4(IL10RA):c.*543G>A
|
rs940437717
|
0.00004
|
NM_001558.4(IL10RA):c.1414G>A (p.Gly472Ser)
|
rs138626531
|
0.00004
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
NM_001558.4(IL10RA):c.457G>A (p.Ala153Thr)
|
rs144476761
|
0.00004
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
NM_001710.6(CFB):c.274A>T (p.Thr92Ser)
|
rs369638886
|
0.00004
|
NM_001770.6(CD19):c.*204A>G
|
rs910119387
|
0.00004
|
NM_001770.6(CD19):c.1371C>T (p.Asn457=)
|
rs199570434
|
0.00004
|
NM_001770.6(CD19):c.846C>A (p.His282Gln)
|
rs756204094
|
0.00004
|
NM_001814.6(CTSC):c.*381A>G
|
rs939550734
|
0.00004
|
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)
|
rs575727793
|
0.00004
|
NM_002185.5(IL7R):c.*35G>A
|
rs758988107
|
0.00004
|
NM_002185.5(IL7R):c.*735C>T
|
rs886060535
|
0.00004
|
NM_002185.5(IL7R):c.*845G>A
|
rs1157306788
|
0.00004
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
0.00004
|
NM_002185.5(IL7R):c.800+10T>C
|
rs202114203
|
0.00004
|
NM_002435.3(MPI):c.*93C>T
|
rs1336372205
|
0.00004
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
NM_002435.3(MPI):c.1053+3G>T
|
rs753145834
|
0.00004
|
NM_002435.3(MPI):c.1175G>A (p.Arg392His)
|
rs762164813
|
0.00004
|
NM_002524.5(NRAS):c.*1629C>G
|
rs776223586
|
0.00004
|
NM_002880.3(RAF1):c.-354C>G
|
rs964288487
|
0.00004
|
NM_002880.4(RAF1):c.*643C>G
|
rs932173134
|
0.00004
|
NM_003331.4(TYK2):c.*302C>T
|
rs886054131
|
0.00004
|
NM_003331.5(TYK2):c.1254G>A (p.Ser418=)
|
rs201945206
|
0.00004
|
NM_003331.5(TYK2):c.1469G>A (p.Arg490His)
|
rs369615833
|
0.00004
|
NM_003331.5(TYK2):c.1839C>T (p.Ser613=)
|
rs748006603
|
0.00004
|
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=)
|
rs764154157
|
0.00004
|
NM_003331.5(TYK2):c.3239A>G (p.Tyr1080Cys)
|
rs776034616
|
0.00004
|
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val)
|
rs779404585
|
0.00004
|
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
|
rs764312417
|
0.00004
|
NM_003764.4(STX11):c.*2816C>T
|
rs372983346
|
0.00004
|
NM_003839.4(TNFRSF11A):c.*1185C>T
|
rs529021055
|
0.00004
|
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met)
|
rs376096275
|
0.00004
|
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)
|
rs923739321
|
0.00004
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
NM_005045.4(RELN):c.*37G>A
|
rs374606622
|
0.00004
|
NM_005045.4(RELN):c.10026G>A (p.Thr3342=)
|
rs542352292
|
0.00004
|
NM_005045.4(RELN):c.1197C>T (p.Ser399=)
|
rs199686580
|
0.00004
|
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp)
|
rs115549751
|
0.00004
|
NM_005045.4(RELN):c.5599A>C (p.Arg1867=)
|
rs753376558
|
0.00004
|
NM_005045.4(RELN):c.6102A>T (p.Ser2034=)
|
rs368034037
|
0.00004
|
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)
|
rs766869538
|
0.00004
|
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)
|
rs202172902
|
0.00004
|
NM_005546.4(ITK):c.1711A>G (p.Ile571Val)
|
rs144950783
|
0.00004
|
NM_005633.4(SOS1):c.*2056A>C
|
rs532255169
|
0.00004
|
NM_005633.4(SOS1):c.*2503_*2506dup
|
rs886056007
|
0.00004
|
NM_005633.4(SOS1):c.*2662G>A
|
rs141841546
|
0.00004
|
NM_005633.4(SOS1):c.*873C>T
|
rs961299565
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)
|
rs751426915
|
0.00004
|
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)
|
rs760377093
|
0.00004
|
NM_006206.6(PDGFRA):c.*1809G>C
|
rs565989173
|
0.00004
|
NM_006206.6(PDGFRA):c.*2111G>A
|
rs554089461
|
0.00004
|
NM_006206.6(PDGFRA):c.*72C>A
|
rs886059449
|
0.00004
|
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn)
|
rs201610023
|
0.00004
|
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg)
|
rs760066036
|
0.00004
|
NM_006610.4(MASP2):c.1470T>G (p.His490Gln)
|
rs750359413
|
0.00004
|
NM_006610.4(MASP2):c.412+1G>A
|
rs781037969
|
0.00004
|
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
|
rs376109480
|
0.00004
|
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
|
rs189170702
|
0.00004
|
NM_006846.4(SPINK5):c.489T>A (p.Ala163=)
|
rs574656084
|
0.00004
|
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe)
|
rs750627345
|
0.00004
|
NM_006846.4(SPINK5):c.834A>C (p.Gln278His)
|
rs201354872
|
0.00004
|
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg)
|
rs776131482
|
0.00004
|
NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val)
|
rs746401418
|
0.00004
|
NM_006929.5(SKIC2):c.1890C>T (p.Arg630=)
|
rs779331758
|
0.00004
|
NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala)
|
rs142436411
|
0.00004
|
NM_006929.5(SKIC2):c.954C>T (p.Ala318=)
|
rs577271106
|
0.00004
|
NM_006929.5(SKIC2):c.990C>T (p.Val330=)
|
rs778024754
|
0.00004
|
NM_006949.4(STXBP2):c.1452+7G>T
|
rs746604591
|
0.00004
|
NM_006949.4(STXBP2):c.1453-6C>T
|
rs200538123
|
0.00004
|
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr)
|
rs199839827
|
0.00004
|
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=)
|
rs750599225
|
0.00004
|
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys)
|
rs758554274
|
0.00004
|
NM_012092.4(ICOS):c.*512T>C
|
rs577478606
|
0.00004
|
NM_012275.3(IL36RN):c.*1540G>A
|
rs886054770
|
0.00004
|
NM_014140.4(SMARCAL1):c.*13G>T
|
rs760333596
|
0.00004
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=)
|
rs372331472
|
0.00004
|
NM_014339.7(IL17RA):c.*2859C>T
|
rs562668645
|
0.00004
|
NM_014339.7(IL17RA):c.*2986G>A
|
rs941175830
|
0.00004
|
NM_014339.7(IL17RA):c.*4002C>T
|
rs1285572932
|
0.00004
|
NM_014339.7(IL17RA):c.*4352A>G
|
rs1011624912
|
0.00004
|
NM_014339.7(IL17RA):c.1045+6C>T
|
rs763664351
|
0.00004
|
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)
|
rs554211497
|
0.00004
|
NM_014339.7(IL17RA):c.2177C>T (p.Ser726Leu)
|
rs756332306
|
0.00004
|
NM_014339.7(IL17RA):c.355C>A (p.Leu119Met)
|
rs766246086
|
0.00004
|
NM_015474.4(SAMHD1):c.*503A>G
|
rs757372495
|
0.00004
|
NM_015474.4(SAMHD1):c.*536C>T
|
rs886056645
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_016123.4(IRAK4):c.*2071C>T
|
rs776314485
|
0.00004
|
NM_016123.4(IRAK4):c.749G>A (p.Gly250Asp)
|
rs769470855
|
0.00004
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys)
|
rs746998307
|
0.00004
|
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met)
|
rs180984559
|
0.00004
|
NM_018389.5(SLC35C1):c.*1156C>T
|
rs886048319
|
0.00004
|
NM_018389.5(SLC35C1):c.*1373G>C
|
rs886048320
|
0.00004
|
NM_018389.5(SLC35C1):c.*244G>A
|
rs886048316
|
0.00004
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00004
|
NM_020661.4(AICDA):c.*1296C>T
|
rs748400078
|
0.00004
|
NM_020661.4(AICDA):c.*1684T>C
|
rs1026369274
|
0.00004
|
NM_022051.2(EGLN1):c.-1517A>G
|
rs750706558
|
0.00004
|
NM_022051.2(EGLN1):c.-1959G>A
|
rs886046128
|
0.00004
|
NM_022725.4(FANCF):c.*1119T>A
|
rs558392453
|
0.00004
|
NM_022725.4(FANCF):c.*412T>A
|
rs1310827545
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_032043.3(BRIP1):c.*524A>G
|
rs371689236
|
0.00004
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
NM_032444.4(SLX4):c.1740C>T (p.Ser580=)
|
rs200354014
|
0.00004
|
NM_032444.4(SLX4):c.2125G>A (p.Val709Met)
|
rs151026877
|
0.00004
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00004
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_032638.5(GATA2):c.*13C>T
|
rs750895467
|
0.00004
|
NM_032638.5(GATA2):c.*570C>T
|
rs868031897
|
0.00004
|
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)
|
rs746362966
|
0.00004
|
NM_032977.4(CASP10):c.*3437C>A
|
rs1349250158
|
0.00004
|
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp)
|
rs774005416
|
0.00004
|
NM_032977.4(CASP10):c.729A>G (p.Arg243=)
|
rs374515060
|
0.00004
|
NM_033360.4(KRAS):c.*2446G>A
|
rs886049187
|
0.00004
|
NM_033360.4(KRAS):c.*3620C>T
|
rs886049181
|
0.00004
|
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
|
rs762011967
|
0.00004
|
NM_052945.4(TNFRSF13C):c.*113G>A
|
rs550105406
|
0.00004
|
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)
|
rs369626832
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_080424.4(SP110):c.2054T>C (p.Leu685Pro)
|
rs114501363
|
0.00004
|
NM_080424.4(SP110):c.2138C>G (p.Pro713Arg)
|
rs200225863
|
0.00004
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
NM_133459.4(CCBE1):c.*1346G>A
|
rs370722132
|
0.00004
|
NM_133459.4(CCBE1):c.*1771G>A
|
rs886054063
|
0.00004
|
NM_133459.4(CCBE1):c.*2810A>G
|
rs886054049
|
0.00004
|
NM_133459.4(CCBE1):c.*3703G>A
|
rs886054044
|
0.00004
|
NM_133459.4(CCBE1):c.*4710G>A
|
rs1337715213
|
0.00004
|
NM_133459.4(CCBE1):c.*504T>C
|
rs1164954310
|
0.00004
|
NM_133459.4(CCBE1):c.-30G>C
|
rs777317997
|
0.00004
|
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu)
|
rs200656869
|
0.00004
|
NM_133459.4(CCBE1):c.853A>G (p.Met285Val)
|
rs766239392
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_139027.6(ADAMTS13):c.1787-6C>T
|
rs781938740
|
0.00004
|
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met)
|
rs367818172
|
0.00004
|
NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=)
|
rs782748173
|
0.00004
|
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln)
|
rs587731517
|
0.00004
|
NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile)
|
rs587643681
|
0.00004
|
NM_139027.6(ADAMTS13):c.539+6C>T
|
rs782661001
|
0.00004
|
NM_139276.3(STAT3):c.*1196T>C
|
rs193126798
|
0.00004
|
NM_144687.3(NLRP12):c.*402G>A
|
rs886054603
|
0.00004
|
NM_144687.4(NLRP12):c.*161A>C
|
rs370149877
|
0.00004
|
NM_144687.4(NLRP12):c.-68G>A
|
rs746346212
|
0.00004
|
NM_144687.4(NLRP12):c.2044G>A (p.Ala682Thr)
|
rs778688033
|
0.00004
|
NM_144687.4(NLRP12):c.2753T>C (p.Leu918Pro)
|
rs777228735
|
0.00004
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
NM_152564.5(VPS13B):c.*1540T>C
|
rs148026916
|
0.00004
|
NM_152564.5(VPS13B):c.-30T>A
|
rs886062533
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys)
|
rs370172252
|
0.00004
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=)
|
rs199881514
|
0.00004
|
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)
|
rs755227174
|
0.00004
|
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)
|
rs779082817
|
0.00004
|
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser)
|
rs750125340
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
NM_172351.3(CD46):c.*52G>A
|
rs373138507
|
0.00004
|
NM_172351.3(CD46):c.-6C>T
|
rs886045836
|
0.00004
|
NM_172351.3(CD46):c.245G>A (p.Arg82Gln)
|
rs761000846
|
0.00004
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
NM_182746.3(MCM4):c.*850T>A
|
rs148413389
|
0.00004
|
NM_182746.3(MCM4):c.859G>A (p.Gly287Ser)
|
rs751016435
|
0.00004
|
NM_183235.3(RAB27A):c.-142-84C>T
|
rs992388018
|
0.00004
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp)
|
rs779947557
|
0.00004
|
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)
|
rs376137910
|
0.00004
|
NM_199242.3(UNC13D):c.2149G>A (p.Ala717Thr)
|
rs771145468
|
0.00004
|
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)
|
rs763343306
|
0.00004
|
NM_199242.3(UNC13D):c.2554-13A>G
|
rs533490795
|
0.00004
|
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)
|
rs140599939
|
0.00004
|
NM_199242.3(UNC13D):c.569+10C>T
|
rs368069154
|
0.00004
|
NM_203447.4(DOCK8):c.*182T>C
|
rs982509861
|
0.00004
|
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile)
|
rs148994877
|
0.00004
|
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=)
|
rs139297216
|
0.00004
|
NM_203447.4(DOCK8):c.3414C>A (p.Phe1138Leu)
|
rs781435688
|
0.00004
|
NM_203447.4(DOCK8):c.4024-6G>C
|
rs555906969
|
0.00004
|
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met)
|
rs151208894
|
0.00004
|
NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp)
|
rs745614955
|
0.00004
|
NM_206937.2(LIG4):c.*781A>G
|
rs944422798
|
0.00004
|
NM_206937.2(LIG4):c.607A>G (p.Ile203Val)
|
rs778278351
|
0.00004
|
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)
|
rs376108062
|
0.00004
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000043.6(FAS):c.488C>T (p.Thr163Ile)
|
rs563551720
|
0.00003
|
NM_000051.4(ATM):c.*534A>C
|
rs957324830
|
0.00003
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
NM_000059.4(BRCA2):c.*172G>A
|
rs574944914
|
0.00003
|
NM_000059.4(BRCA2):c.*345A>G
|
rs886050113
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000063.6(C2):c.*286T>C
|
rs948285998
|
0.00003
|
NM_000064.4(C3):c.48C>A (p.His16Gln)
|
rs184455094
|
0.00003
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
NM_000135.4(FANCA):c.*672G>C
|
rs17233819
|
0.00003
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.*1468C>T
|
rs780382671
|
0.00003
|
NM_000136.3(FANCC):c.*2052G>C
|
rs539833295
|
0.00003
|
NM_000136.3(FANCC):c.*2246G>T
|
rs1367873898
|
0.00003
|
NM_000136.3(FANCC):c.*2564C>T
|
rs945363629
|
0.00003
|
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
NM_000178.4(GSS):c.*183C>T
|
rs1443092820
|
0.00003
|
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln)
|
rs200335681
|
0.00003
|
NM_000215.4(JAK3):c.-19C>T
|
rs181416110
|
0.00003
|
NM_000215.4(JAK3):c.2678C>T (p.Pro893Leu)
|
rs772027199
|
0.00003
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_000215.4(JAK3):c.3213C>T (p.His1071=)
|
rs757910571
|
0.00003
|
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)
|
rs138593705
|
0.00003
|
NM_000243.3(MEFV):c.*1096A>T
|
rs950693142
|
0.00003
|
NM_000243.3(MEFV):c.*797T>C
|
rs552125584
|
0.00003
|
NM_000243.3(MEFV):c.*862A>C
|
rs914879585
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000246.4(CIITA):c.*182C>G
|
rs1264537500
|
0.00003
|
NM_000246.4(CIITA):c.*236G>A
|
rs558642278
|
0.00003
|
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu)
|
rs369787912
|
0.00003
|
NM_000246.4(CIITA):c.2409G>A (p.Ala803=)
|
rs755302593
|
0.00003
|
NM_000246.4(CIITA):c.2442C>T (p.His814=)
|
rs746490057
|
0.00003
|
NM_000246.4(CIITA):c.3357C>T (p.His1119=)
|
rs754706834
|
0.00003
|
NM_000246.4(CIITA):c.781C>T (p.Pro261Ser)
|
rs757943329
|
0.00003
|
NM_000246.4(CIITA):c.948G>A (p.Thr316=)
|
rs369971838
|
0.00003
|
NM_000271.5(NPC1):c.-31G>A
|
rs886053668
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
|
rs769612789
|
0.00003
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys)
|
rs539987014
|
0.00003
|
NM_000355.4(TCN2):c.1063G>A (p.Val355Met)
|
rs780429477
|
0.00003
|
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln)
|
rs760721315
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_000361.3(THBD):c.*230T>G
|
rs985689499
|
0.00003
|
NM_000361.3(THBD):c.331G>A (p.Val111Ile)
|
rs886056549
|
0.00003
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_000417.3(IL2RA):c.*103C>T
|
rs886047080
|
0.00003
|
NM_000417.3(IL2RA):c.*1042G>A
|
rs542812308
|
0.00003
|
NM_000417.3(IL2RA):c.*1574C>T
|
rs886047073
|
0.00003
|
NM_000417.3(IL2RA):c.*93G>A
|
rs886047081
|
0.00003
|
NM_000417.3(IL2RA):c.732C>T (p.Ala244=)
|
rs779403244
|
0.00003
|
NM_000431.4(MVK):c.*486C>T
|
rs1359708981
|
0.00003
|
NM_000431.4(MVK):c.-33G>A
|
rs886048930
|
0.00003
|
NM_000431.4(MVK):c.-55G>C
|
rs886048929
|
0.00003
|
NM_000431.4(MVK):c.258G>A (p.Glu86=)
|
rs139299227
|
0.00003
|
NM_000431.4(MVK):c.857C>T (p.Pro286Leu)
|
rs104895379
|
0.00003
|
NM_000433.4(NCF2):c.*262C>T
|
rs201050705
|
0.00003
|
NM_000433.4(NCF2):c.837G>A (p.Thr279=)
|
rs942486247
|
0.00003
|
NM_000448.3(RAG1):c.152A>T (p.Asp51Val)
|
rs147486240
|
0.00003
|
NM_000448.3(RAG1):c.2799A>G (p.Gly933=)
|
rs769375583
|
0.00003
|
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)
|
rs760746448
|
0.00003
|
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln)
|
rs372110434
|
0.00003
|
NM_000448.3(RAG1):c.592A>C (p.Arg198=)
|
rs746425890
|
0.00003
|
NM_000536.4(RAG2):c.-151A>C
|
rs886048273
|
0.00003
|
NM_000538.4(RFXAP):c.-116C>G
|
rs886050141
|
0.00003
|
NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg)
|
rs758076793
|
0.00003
|
NM_000538.4(RFXAP):c.801T>C (p.Phe267=)
|
rs536976297
|
0.00003
|
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser)
|
rs142476839
|
0.00003
|
NM_000628.5(IL10RB):c.*365C>T
|
rs886057005
|
0.00003
|
NM_000628.5(IL10RB):c.*546G>A
|
rs886057006
|
0.00003
|
NM_000639.3(FASLG):c.*120G>A
|
rs886045571
|
0.00003
|
NM_000732.6(CD3D):c.-44G>A
|
rs886047739
|
0.00003
|
NM_000733.4(CD3E):c.*247C>T
|
rs200610341
|
0.00003
|
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp)
|
rs201867379
|
0.00003
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
0.00003
|
NM_001018115.3(FANCD2):c.1545+9T>C
|
rs769459614
|
0.00003
|
NM_001018115.3(FANCD2):c.1948-7C>T
|
rs757782326
|
0.00003
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
0.00003
|
NM_001033855.3(DCLRE1C):c.*1452G>A
|
rs537383684
|
0.00003
|
NM_001033855.3(DCLRE1C):c.*915G>A
|
rs886046837
|
0.00003
|
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr)
|
rs762266339
|
0.00003
|
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile)
|
rs374596045
|
0.00003
|
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=)
|
rs764386986
|
0.00003
|
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=)
|
rs373422284
|
0.00003
|
NM_001065.4(TNFRSF1A):c.532G>A (p.Glu178Lys)
|
rs538872981
|
0.00003
|
NM_001079.4(ZAP70):c.*161G>A
|
rs886056486
|
0.00003
|
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile)
|
rs371359430
|
0.00003
|
NM_001079.4(ZAP70):c.729G>A (p.Ala243=)
|
rs754793583
|
0.00003
|
NM_001083116.3(PRF1):c.-41C>T
|
rs886047110
|
0.00003
|
NM_001083116.3(PRF1):c.112G>A (p.Val38Met)
|
rs201909472
|
0.00003
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
NM_001113378.2(FANCI):c.1890+3A>G
|
rs886051510
|
0.00003
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
|
rs964069381
|
0.00003
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
NM_001167.4(XIAP):c.*2488C>T
|
rs1192771463
|
0.00003
|
NM_001167.4(XIAP):c.*253C>T
|
rs1057515749
|
0.00003
|
NM_001167.4(XIAP):c.*3845A>G
|
rs958117071
|
0.00003
|
NM_001243133.2(NLRP3):c.-339C>T
|
rs201966092
|
0.00003
|
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu)
|
rs771315000
|
0.00003
|
NM_001250.6(CD40):c.*338A>G
|
rs886056721
|
0.00003
|
NM_001250.6(CD40):c.444C>T (p.Val148=)
|
rs745496687
|
0.00003
|
NM_001369369.1(FOXN1):c.*53C>T
|
rs1040034988
|
0.00003
|
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=)
|
rs375002692
|
0.00003
|
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=)
|
rs369425799
|
0.00003
|
NM_001369369.1(FOXN1):c.64G>A (p.Glu22Lys)
|
rs545707585
|
0.00003
|
NM_001369369.1(FOXN1):c.709G>A (p.Gly237Ser)
|
rs745321270
|
0.00003
|
NM_001370466.1(NOD2):c.*186C>G
|
rs886052045
|
0.00003
|
NM_001370466.1(NOD2):c.*8G>A
|
rs199475923
|
0.00003
|
NM_001370466.1(NOD2):c.2465+1G>A
|
rs373550987
|
0.00003
|
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)
|
rs571102620
|
0.00003
|
NM_001370466.1(NOD2):c.726G>A (p.Pro242=)
|
rs369766454
|
0.00003
|
NM_001372051.1(CASP8):c.306-1980C>A
|
rs376590303
|
0.00003
|
NM_001372051.1(CASP8):c.919A>G (p.Met307Val)
|
rs148960588
|
0.00003
|
NM_001375808.2(LPIN2):c.*252G>A
|
rs886053762
|
0.00003
|
NM_001375808.2(LPIN2):c.*275C>G
|
rs886053761
|
0.00003
|
NM_001375808.2(LPIN2):c.*2999C>A
|
rs138807947
|
0.00003
|
NM_001375808.2(LPIN2):c.*448C>T
|
rs886053759
|
0.00003
|
NM_001375808.2(LPIN2):c.*934G>C
|
rs1032890815
|
0.00003
|
NM_001378373.1(MBL2):c.*1569A>G
|
rs754268753
|
0.00003
|
NM_001378373.1(MBL2):c.*2457G>C
|
rs1263739066
|
0.00003
|
NM_001378687.1(ATP2C1):c.-90G>C
|
rs1281629898
|
0.00003
|
NM_001430.5(EPAS1):c.*1182G>A
|
rs967868215
|
0.00003
|
NM_001430.5(EPAS1):c.*150T>G
|
rs769123299
|
0.00003
|
NM_001430.5(EPAS1):c.*1620G>C
|
rs886056102
|
0.00003
|
NM_001430.5(EPAS1):c.*408T>C
|
rs146764927
|
0.00003
|
NM_001430.5(EPAS1):c.-200A>C
|
rs886056080
|
0.00003
|
NM_001430.5(EPAS1):c.1248C>T (p.Phe416=)
|
rs761886735
|
0.00003
|
NM_001558.4(IL10RA):c.*421A>C
|
rs1200867723
|
0.00003
|
NM_001558.4(IL10RA):c.-54T>C
|
rs886047705
|
0.00003
|
NM_001558.4(IL10RA):c.1281C>T (p.Pro427=)
|
rs767275130
|
0.00003
|
NM_001710.6(CFB):c.*16A>T
|
rs749158582
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_001710.6(CFB):c.1227A>G (p.Leu409=)
|
rs761050063
|
0.00003
|
NM_001710.6(CFB):c.1593T>C (p.Asp531=)
|
rs886061296
|
0.00003
|
NM_001710.6(CFB):c.321C>T (p.His107=)
|
rs767428982
|
0.00003
|
NM_001770.6(CD19):c.1469G>A (p.Arg490Gln)
|
rs146223289
|
0.00003
|
NM_001770.6(CD19):c.1635del (p.Gly546fs)
|
rs774006181
|
0.00003
|
NM_001770.6(CD19):c.384C>T (p.Asp128=)
|
rs200748731
|
0.00003
|
NM_001770.6(CD19):c.835+3A>G
|
rs374608144
|
0.00003
|
NM_002185.5(IL7R):c.*1855T>C
|
rs953683949
|
0.00003
|
NM_002351.5(SH2D1A):c.*860T>C
|
rs1057515764
|
0.00003
|
NM_002435.3(MPI):c.*44T>G
|
rs774547352
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_002693.3(POLG):c.3644-116T>C
|
rs777372106
|
0.00003
|
NM_002834.5(PTPN11):c.*3720T>C
|
rs886048981
|
0.00003
|
NM_002834.5(PTPN11):c.1379+6A>G
|
rs746958309
|
0.00003
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
NM_002880.4(RAF1):c.-110G>A
|
rs886057917
|
0.00003
|
NM_002880.4(RAF1):c.600T>C (p.Thr200=)
|
rs779808613
|
0.00003
|
NM_003331.5(TYK2):c.*260C>T
|
rs1258476690
|
0.00003
|
NM_003331.5(TYK2):c.1576G>A (p.Val526Ile)
|
rs758682935
|
0.00003
|
NM_003331.5(TYK2):c.2646G>C (p.Pro882=)
|
rs184567726
|
0.00003
|
NM_003331.5(TYK2):c.505G>A (p.Glu169Lys)
|
rs778545468
|
0.00003
|
NM_003331.5(TYK2):c.670C>T (p.Arg224Trp)
|
rs920085264
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
NM_003721.4(RFXANK):c.501C>A (p.Gly167=)
|
rs145457604
|
0.00003
|
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala)
|
rs372111384
|
0.00003
|
NM_003764.4(STX11):c.*2695G>A
|
rs982252446
|
0.00003
|
NM_003764.4(STX11):c.*2920T>C
|
rs886061155
|
0.00003
|
NM_003764.4(STX11):c.*4146C>T
|
rs564603726
|
0.00003
|
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=)
|
rs376113816
|
0.00003
|
NM_003839.4(TNFRSF11A):c.784-5G>A
|
rs572449155
|
0.00003
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
NM_005045.4(RELN):c.*263T>C
|
rs879136898
|
0.00003
|
NM_005045.4(RELN):c.23G>A (p.Arg8Gln)
|
rs765261158
|
0.00003
|
NM_005045.4(RELN):c.2476G>A (p.Val826Ile)
|
rs369844245
|
0.00003
|
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu)
|
rs116225248
|
0.00003
|
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys)
|
rs375118721
|
0.00003
|
NM_005045.4(RELN):c.6789G>A (p.Glu2263=)
|
rs748936767
|
0.00003
|
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr)
|
rs141307064
|
0.00003
|
NM_005546.4(ITK):c.*210G>A
|
rs191930507
|
0.00003
|
NM_005546.4(ITK):c.*2191C>T
|
rs886060335
|
0.00003
|
NM_005546.4(ITK):c.*9G>A
|
rs369078550
|
0.00003
|
NM_005546.4(ITK):c.1060G>A (p.Gly354Arg)
|
rs886060327
|
0.00003
|
NM_005546.4(ITK):c.1563G>A (p.Pro521=)
|
rs767821181
|
0.00003
|
NM_005546.4(ITK):c.287G>C (p.Arg96Pro)
|
rs751865122
|
0.00003
|
NM_005633.4(SOS1):c.*1270T>C
|
rs1019150969
|
0.00003
|
NM_005633.4(SOS1):c.*223C>T
|
rs886056022
|
0.00003
|
NM_005633.4(SOS1):c.*3727G>C
|
rs886056004
|
0.00003
|
NM_006397.3(RNASEH2A):c.*50T>C
|
rs199822158
|
0.00003
|
NM_006397.3(RNASEH2A):c.-25A>G
|
rs886054235
|
0.00003
|
NM_006610.4(MASP2):c.*212A>G
|
rs987591296
|
0.00003
|
NM_006610.4(MASP2):c.*311T>C
|
rs771262318
|
0.00003
|
NM_006610.4(MASP2):c.159C>T (p.Pro53=)
|
rs376802078
|
0.00003
|
NM_006610.4(MASP2):c.172C>T (p.Arg58Cys)
|
rs566630945
|
0.00003
|
NM_006610.4(MASP2):c.229G>A (p.Val77Ile)
|
rs376609308
|
0.00003
|
NM_006846.4(SPINK5):c.*78A>G
|
rs774183421
|
0.00003
|
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
|
rs754319450
|
0.00003
|
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys)
|
rs374003659
|
0.00003
|
NM_006929.4(SKIC2):c.-224G>A
|
rs886061300
|
0.00003
|
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp)
|
rs138507648
|
0.00003
|
NM_006929.5(SKIC2):c.2566T>C (p.Leu856=)
|
rs774246307
|
0.00003
|
NM_006929.5(SKIC2):c.2704G>A (p.Val902Met)
|
rs578239723
|
0.00003
|
NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg)
|
rs373527237
|
0.00003
|
NM_006929.5(SKIC2):c.3540+7A>G
|
rs767834988
|
0.00003
|
NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val)
|
rs774251531
|
0.00003
|
NM_006947.4(SRP72):c.*1678C>T
|
rs886059503
|
0.00003
|
NM_006947.4(SRP72):c.*1764A>G
|
rs192226722
|
0.00003
|
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=)
|
rs980486322
|
0.00003
|
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=)
|
rs374131788
|
0.00003
|
NM_006949.4(STXBP2):c.321C>T (p.Thr107=)
|
rs886054703
|
0.00003
|
NM_007375.4(TARDBP):c.*2123T>C
|
rs1464055996
|
0.00003
|
NM_012092.4(ICOS):c.-24G>T
|
rs576726896
|
0.00003
|
NM_012092.4(ICOS):c.42C>A (p.Arg14=)
|
rs765158675
|
0.00003
|
NM_012092.4(ICOS):c.510A>G (p.Ser170=)
|
rs148435889
|
0.00003
|
NM_012275.3(IL36RN):c.*1844A>G
|
rs776033400
|
0.00003
|
NM_012275.3(IL36RN):c.*185C>T
|
rs3207837
|
0.00003
|
NM_012275.3(IL36RN):c.*883T>C
|
rs1044606674
|
0.00003
|
NM_014140.3(SMARCAL1):c.-316T>C
|
rs1158002165
|
0.00003
|
NM_014140.4(SMARCAL1):c.-48C>A
|
rs576450027
|
0.00003
|
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=)
|
rs750621192
|
0.00003
|
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)
|
rs571392819
|
0.00003
|
NM_014339.7(IL17RA):c.*58G>A
|
rs886057205
|
0.00003
|
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=)
|
rs767714232
|
0.00003
|
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)
|
rs990617336
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_018062.4(FANCL):c.*515A>C
|
rs971589098
|
0.00003
|
NM_018344.6(SLC29A3):c.*403C>T
|
rs376297355
|
0.00003
|
NM_018389.5(SLC35C1):c.*1031G>A
|
rs1476944695
|
0.00003
|
NM_018389.5(SLC35C1):c.*1229C>T
|
rs938496129
|
0.00003
|
NM_018389.5(SLC35C1):c.*528G>A
|
rs886048317
|
0.00003
|
NM_018389.5(SLC35C1):c.-518C>A
|
rs886048309
|
0.00003
|
NM_020529.3(NFKBIA):c.379G>A (p.Ala127Thr)
|
rs377380656
|
0.00003
|
NM_020529.3(NFKBIA):c.547+10C>T
|
rs201614038
|
0.00003
|
NM_021922.3(FANCE):c.-132A>G
|
rs886061325
|
0.00003
|
NM_022051.2(EGLN1):c.-2568G>T
|
rs185603039
|
0.00003
|
NM_022051.3(EGLN1):c.*1010C>T
|
rs886046100
|
0.00003
|
NM_022051.3(EGLN1):c.*1854T>G
|
rs774937283
|
0.00003
|
NM_022051.3(EGLN1):c.*421A>G
|
rs886046107
|
0.00003
|
NM_022051.3(EGLN1):c.*603C>A
|
rs886046104
|
0.00003
|
NM_022725.3(FANCF):c.-21A>G
|
rs751857151
|
0.00003
|
NM_022725.4(FANCF):c.*1884T>C
|
rs760103091
|
0.00003
|
NM_022725.4(FANCF):c.*2071A>G
|
rs886048148
|
0.00003
|
NM_022725.4(FANCF):c.*597G>A
|
rs373336301
|
0.00003
|
NM_022725.4(FANCF):c.*7C>G
|
rs770964562
|
0.00003
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
NM_024570.4(RNASEH2B):c.-145G>A
|
rs1227696445
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_032043.2(BRIP1):c.-307G>A
|
rs936277521
|
0.00003
|
NM_032043.3(BRIP1):c.*1393G>T
|
rs754698039
|
0.00003
|
NM_032043.3(BRIP1):c.*2668G>A
|
rs886053206
|
0.00003
|
NM_032043.3(BRIP1):c.*2691C>G
|
rs886053205
|
0.00003
|
NM_032043.3(BRIP1):c.*2999T>C
|
rs1357312726
|
0.00003
|
NM_032043.3(BRIP1):c.*3635T>C
|
rs548812634
|
0.00003
|
NM_032043.3(BRIP1):c.*3924T>G
|
rs886053195
|
0.00003
|
NM_032043.3(BRIP1):c.*900C>A
|
rs886053210
|
0.00003
|
NM_032043.3(BRIP1):c.-229C>G
|
rs886053217
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032193.4(RNASEH2C):c.*29A>G
|
rs886048499
|
0.00003
|
NM_032444.4(SLX4):c.*652A>G
|
rs546917026
|
0.00003
|
NM_032444.4(SLX4):c.-399C>T
|
rs1177862096
|
0.00003
|
NM_032444.4(SLX4):c.-603+8G>C
|
rs886051987
|
0.00003
|
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
|
rs200030312
|
0.00003
|
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)
|
rs762550449
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
NM_032638.5(GATA2):c.*988T>G
|
rs1349296825
|
0.00003
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
NM_032638.5(GATA2):c.1347C>A (p.Ser449=)
|
rs150052821
|
0.00003
|
NM_032977.4(CASP10):c.*1327G>A
|
rs1945654880
|
0.00003
|
NM_032977.4(CASP10):c.*1538T>A
|
rs886055416
|
0.00003
|
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)
|
rs201068640
|
0.00003
|
NM_052872.4(IL17F):c.427T>C (p.Leu143=)
|
rs1015495067
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_080424.4(SP110):c.*204A>T
|
rs76598053
|
0.00003
|
NM_080911.3(UNG):c.*111A>T
|
rs770692724
|
0.00003
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
NM_133459.4(CCBE1):c.*1257T>C
|
rs967571265
|
0.00003
|
NM_133459.4(CCBE1):c.*2017G>A
|
rs886054058
|
0.00003
|
NM_133459.4(CCBE1):c.*2058G>A
|
rs886054055
|
0.00003
|
NM_133459.4(CCBE1):c.*2389C>G
|
rs911000731
|
0.00003
|
NM_133459.4(CCBE1):c.*3143T>C
|
rs886054047
|
0.00003
|
NM_133459.4(CCBE1):c.*3257A>G
|
rs548992924
|
0.00003
|
NM_133459.4(CCBE1):c.*3623A>C
|
rs886054046
|
0.00003
|
NM_133459.4(CCBE1):c.*4246C>G
|
rs886054040
|
0.00003
|
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys)
|
rs761881641
|
0.00003
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser)
|
rs202163545
|
0.00003
|
NM_139025.4(ADAMTS13):c.-155C>T
|
rs587712950
|
0.00003
|
NM_139027.6(ADAMTS13):c.824+12C>T
|
rs587678724
|
0.00003
|
NM_139276.2(STAT3):c.-211G>T
|
rs902564848
|
0.00003
|
NM_139276.3(STAT3):c.*165T>G
|
rs930137822
|
0.00003
|
NM_139276.3(STAT3):c.*1970A>G
|
rs1475716153
|
0.00003
|
NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His)
|
rs766112183
|
0.00003
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
NM_148919.4(PSMB8):c.*231C>T
|
rs539015992
|
0.00003
|
NM_152564.5(VPS13B):c.*140G>A
|
rs535987441
|
0.00003
|
NM_152564.5(VPS13B):c.*637C>G
|
rs565441903
|
0.00003
|
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile)
|
rs781253026
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met)
|
rs191099208
|
0.00003
|
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His)
|
rs200229383
|
0.00003
|
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys)
|
rs1226670439
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys)
|
rs886062535
|
0.00003
|
NM_172351.3(CD46):c.*1265T>C
|
rs753496695
|
0.00003
|
NM_172351.3(CD46):c.*180T>C
|
rs886045840
|
0.00003
|
NM_172351.3(CD46):c.*614T>C
|
rs561506830
|
0.00003
|
NM_172351.3(CD46):c.1104C>T (p.Thr368=)
|
rs764242699
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_182746.3(MCM4):c.*438A>G
|
rs886062981
|
0.00003
|
NM_182746.3(MCM4):c.*443G>A
|
rs552183222
|
0.00003
|
NM_182746.3(MCM4):c.-74C>T
|
rs559247482
|
0.00003
|
NM_182746.3(MCM4):c.1264C>T (p.Arg422Trp)
|
rs78091557
|
0.00003
|
NM_182746.3(MCM4):c.1973A>G (p.Tyr658Cys)
|
rs771448184
|
0.00003
|
NM_182746.3(MCM4):c.811A>G (p.Met271Val)
|
rs764420223
|
0.00003
|
NM_183235.3(RAB27A):c.*2334C>A
|
rs886051304
|
0.00003
|
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
|
rs539575657
|
0.00003
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
NM_199242.3(UNC13D):c.*3G>A
|
rs531729868
|
0.00003
|
NM_199242.3(UNC13D):c.1622C>T (p.Thr541Met)
|
rs3744025
|
0.00003
|
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met)
|
rs756749933
|
0.00003
|
NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp)
|
rs370710344
|
0.00003
|
NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln)
|
rs760766927
|
0.00003
|
NM_203447.4(DOCK8):c.*407C>T
|
rs886063983
|
0.00003
|
NM_203447.4(DOCK8):c.*847A>G
|
rs924532099
|
0.00003
|
NM_203447.4(DOCK8):c.1656A>G (p.Val552=)
|
rs150595667
|
0.00003
|
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn)
|
rs778451048
|
0.00003
|
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile)
|
rs762799448
|
0.00003
|
NM_203447.4(DOCK8):c.2719G>A (p.Asp907Asn)
|
rs756707690
|
0.00003
|
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu)
|
rs375686155
|
0.00003
|
NM_203447.4(DOCK8):c.2937C>G (p.Val979=)
|
rs751748445
|
0.00003
|
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp)
|
rs146891937
|
0.00003
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
NM_206937.2(LIG4):c.2499T>C (p.Asn833=)
|
rs769297575
|
0.00003
|
NM_000022.4(ADA):c.*162G>A
|
rs901060573
|
0.00002
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
|
rs371305751
|
0.00002
|
NM_000043.6(FAS):c.*386A>G
|
rs1186205053
|
0.00002
|
NM_000043.6(FAS):c.*839A>G
|
rs779728201
|
0.00002
|
NM_000043.6(FAS):c.*874T>A
|
rs1436430653
|
0.00002
|
NM_000051.4(ATM):c.*2780C>T
|
rs1246719124
|
0.00002
|
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)
|
rs587781595
|
0.00002
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
0.00002
|
NM_000059.4(BRCA2):c.*545T>C
|
rs536333595
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000064.4(C3):c.1303G>A (p.Glu435Lys)
|
rs774826179
|
0.00002
|
NM_000064.4(C3):c.1685C>T (p.Ser562Leu)
|
rs200541526
|
0.00002
|
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
|
rs753019751
|
0.00002
|
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
|
rs1178318400
|
0.00002
|
NM_000073.3(CD3G):c.*617G>T
|
rs1048944200
|
0.00002
|
NM_000073.3(CD3G):c.308-4A>G
|
rs201296802
|
0.00002
|
NM_000073.3(CD3G):c.467A>G (p.Asn156Ser)
|
rs772803529
|
0.00002
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
|
rs1219627612
|
0.00002
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
NM_000136.3(FANCC):c.*1379C>G
|
rs55901384
|
0.00002
|
NM_000136.3(FANCC):c.*577G>A
|
rs1303539766
|
0.00002
|
NM_000178.4(GSS):c.957G>A (p.Met319Ile)
|
rs202181009
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000204.5(CFI):c.1429G>C (p.Asp477His)
|
rs754972981
|
0.00002
|
NM_000206.3(IL2RG):c.167C>T (p.Pro56Leu)
|
rs774569887
|
0.00002
|
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=)
|
rs754762370
|
0.00002
|
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln)
|
rs750019280
|
0.00002
|
NM_000211.5(ITGB2):c.59-9G>A
|
rs141780263
|
0.00002
|
NM_000211.5(ITGB2):c.742-5C>G
|
rs542698586
|
0.00002
|
NM_000215.4(JAK3):c.*1522C>T
|
rs1449106505
|
0.00002
|
NM_000215.4(JAK3):c.*1778A>G
|
rs886054266
|
0.00002
|
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)
|
rs201698409
|
0.00002
|
NM_000215.4(JAK3):c.2490+4A>C
|
rs745806475
|
0.00002
|
NM_000215.4(JAK3):c.2692C>T (p.Leu898=)
|
rs202043320
|
0.00002
|
NM_000215.4(JAK3):c.2761C>T (p.Leu921Phe)
|
rs886054278
|
0.00002
|
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)
|
rs760981584
|
0.00002
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
NM_000246.4(CIITA):c.3318-8C>G
|
rs201115726
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr)
|
rs886053667
|
0.00002
|
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr)
|
rs754330583
|
0.00002
|
NM_000361.3(THBD):c.*1104A>C
|
rs926288174
|
0.00002
|
NM_000361.3(THBD):c.1528G>A (p.Val510Met)
|
rs555537779
|
0.00002
|
NM_000417.3(IL2RA):c.669G>A (p.Gln223=)
|
rs539966138
|
0.00002
|
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
|
rs202167435
|
0.00002
|
NM_000431.4(MVK):c.317G>A (p.Arg106His)
|
rs778337320
|
0.00002
|
NM_000431.4(MVK):c.78+8G>A
|
rs766391278
|
0.00002
|
NM_000431.4(MVK):c.870G>T (p.Gln290His)
|
rs376025633
|
0.00002
|
NM_000433.4(NCF2):c.196C>A (p.Arg66=)
|
rs750782115
|
0.00002
|
NM_000448.3(RAG1):c.*273G>C
|
rs144069419
|
0.00002
|
NM_000448.3(RAG1):c.*627A>G
|
rs1322490118
|
0.00002
|
NM_000536.4(RAG2):c.*348C>G
|
rs901433887
|
0.00002
|
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly)
|
rs753730066
|
0.00002
|
NM_000536.4(RAG2):c.140A>T (p.His47Leu)
|
rs776913146
|
0.00002
|
NM_000536.4(RAG2):c.141T>G (p.His47Gln)
|
rs768914369
|
0.00002
|
NM_000536.4(RAG2):c.174G>A (p.Lys58=)
|
rs202020106
|
0.00002
|
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser)
|
rs368935791
|
0.00002
|
NM_000543.5(SMPD1):c.1340+8G>A
|
rs373742012
|
0.00002
|
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser)
|
rs747223735
|
0.00002
|
NM_000639.3(FASLG):c.*203C>T
|
rs886045572
|
0.00002
|
NM_000733.4(CD3E):c.82A>C (p.Met28Leu)
|
rs759815699
|
0.00002
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
NM_001025603.2(RFX5):c.*881C>T
|
rs1245339817
|
0.00002
|
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)
|
rs771403545
|
0.00002
|
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
|
rs772352167
|
0.00002
|
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala)
|
rs376672819
|
0.00002
|
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
|
rs147137349
|
0.00002
|
NM_001025603.2(RFX5):c.858+13G>A
|
rs778371620
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*238A>C
|
rs80156707
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*506G>A
|
rs1205017687
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*540A>G
|
rs886046841
|
0.00002
|
NM_001065.4(TNFRSF1A):c.-62C>A
|
rs563393671
|
0.00002
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
NM_001065.4(TNFRSF1A):c.823C>T (p.Pro275Ser)
|
rs758118907
|
0.00002
|
NM_001079.4(ZAP70):c.790+6G>A
|
rs200018109
|
0.00002
|
NM_001083116.2(PRF1):c.-134A>C
|
rs982795402
|
0.00002
|
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=)
|
rs200167080
|
0.00002
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
NM_001114636.1(FANCL):c.-13C>T
|
rs757714548
|
0.00002
|
NM_001167.4(XIAP):c.*4691G>A
|
rs982138652
|
0.00002
|
NM_001167.4(XIAP):c.-142G>C
|
rs1452980309
|
0.00002
|
NM_001243133.2(NLRP3):c.-203G>A
|
rs1042817230
|
0.00002
|
NM_001243133.2(NLRP3):c.-219G>A
|
rs1282180723
|
0.00002
|
NM_001369369.1(FOXN1):c.*323G>C
|
rs1215102888
|
0.00002
|
NM_001369369.1(FOXN1):c.*496C>T
|
rs886052761
|
0.00002
|
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=)
|
rs148006498
|
0.00002
|
NM_001369369.1(FOXN1):c.226G>A (p.Glu76Lys)
|
rs142248984
|
0.00002
|
NM_001369369.1(FOXN1):c.539G>C (p.Trp180Ser)
|
rs765090704
|
0.00002
|
NM_001370466.1(NOD2):c.*394C>T
|
rs886052048
|
0.00002
|
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr)
|
rs367807709
|
0.00002
|
NM_001372051.1(CASP8):c.528C>T (p.Asn176=)
|
rs774015258
|
0.00002
|
NM_001372051.1(CASP8):c.660+6C>T
|
rs370400442
|
0.00002
|
NM_001372051.1(CASP8):c.843C>A (p.Ile281=)
|
rs199934929
|
0.00002
|
NM_001375808.2(LPIN2):c.*1157T>C
|
rs1240536600
|
0.00002
|
NM_001375808.2(LPIN2):c.*2710A>G
|
rs760097342
|
0.00002
|
NM_001375808.2(LPIN2):c.*823G>A
|
rs747730329
|
0.00002
|
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val)
|
rs777239535
|
0.00002
|
NM_001378373.1(MBL2):c.*1144A>G
|
rs886047046
|
0.00002
|
NM_001378373.1(MBL2):c.*7A>G
|
rs777309633
|
0.00002
|
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)
|
rs8191996
|
0.00002
|
NM_001378687.1(ATP2C1):c.*1214A>G
|
rs886057990
|
0.00002
|
NM_001378687.1(ATP2C1):c.*856G>A
|
rs1267244925
|
0.00002
|
NM_001430.5(EPAS1):c.*898C>T
|
rs577130920
|
0.00002
|
NM_001430.5(EPAS1):c.*90C>T
|
rs151042657
|
0.00002
|
NM_001430.5(EPAS1):c.-92G>A
|
rs957930899
|
0.00002
|
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)
|
rs947956425
|
0.00002
|
NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile)
|
rs375135104
|
0.00002
|
NM_001558.4(IL10RA):c.*576G>C
|
rs773690502
|
0.00002
|
NM_001558.4(IL10RA):c.313G>A (p.Gly105Ser)
|
rs188378450
|
0.00002
|
NM_001558.4(IL10RA):c.72A>C (p.Thr24=)
|
rs560128585
|
0.00002
|
NM_001710.6(CFB):c.1290C>T (p.Val430=)
|
rs201619743
|
0.00002
|
NM_001770.6(CD19):c.*65A>G
|
rs547923710
|
0.00002
|
NM_001770.6(CD19):c.788G>A (p.Arg263His)
|
rs146126284
|
0.00002
|
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)
|
rs748729285
|
0.00002
|
NM_002185.5(IL7R):c.*1091G>A
|
rs781372644
|
0.00002
|
NM_002185.5(IL7R):c.*2479A>G
|
rs1270525952
|
0.00002
|
NM_002185.5(IL7R):c.*663T>A
|
rs763740085
|
0.00002
|
NM_002185.5(IL7R):c.111C>T (p.Asp37=)
|
rs763937095
|
0.00002
|
NM_002185.5(IL7R):c.695A>G (p.Asn232Ser)
|
rs199714011
|
0.00002
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
0.00002
|
NM_002435.3(MPI):c.*109T>C
|
rs905180827
|
0.00002
|
NM_002524.4(NRAS):c.-179G>C
|
rs886045110
|
0.00002
|
NM_002524.5(NRAS):c.*1509A>G
|
rs141713248
|
0.00002
|
NM_002524.5(NRAS):c.*1914A>G
|
rs967317719
|
0.00002
|
NM_002834.3(PTPN11):c.-245C>G
|
rs886048963
|
0.00002
|
NM_002834.5(PTPN11):c.*1588C>G
|
rs886048974
|
0.00002
|
NM_002834.5(PTPN11):c.*1616C>T
|
rs1340461859
|
0.00002
|
NM_002834.5(PTPN11):c.*1830G>A
|
rs1399608679
|
0.00002
|
NM_002834.5(PTPN11):c.*2608C>T
|
rs1009588224
|
0.00002
|
NM_002880.4(RAF1):c.*647G>T
|
rs1457071879
|
0.00002
|
NM_002880.4(RAF1):c.*706C>T
|
rs1466261579
|
0.00002
|
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)
|
rs886041231
|
0.00002
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
NM_003331.5(TYK2):c.2197G>A (p.Gly733Ser)
|
rs1038590632
|
0.00002
|
NM_003331.5(TYK2):c.2370C>T (p.Ser790=)
|
rs762732975
|
0.00002
|
NM_003331.5(TYK2):c.3201-15C>T
|
rs766488790
|
0.00002
|
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=)
|
rs372903125
|
0.00002
|
NM_003721.4(RFXANK):c.240C>T (p.Asn80=)
|
rs754519730
|
0.00002
|
NM_003721.4(RFXANK):c.536G>A (p.Arg179His)
|
rs562901844
|
0.00002
|
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln)
|
rs757517948
|
0.00002
|
NM_003764.4(STX11):c.*2006T>G
|
rs144230592
|
0.00002
|
NM_003764.4(STX11):c.*428T>C
|
rs1229161486
|
0.00002
|
NM_003764.4(STX11):c.585C>A (p.Ala195=)
|
rs147525157
|
0.00002
|
NM_003764.4(STX11):c.614A>G (p.Asn205Ser)
|
rs771215498
|
0.00002
|
NM_003839.4(TNFRSF11A):c.*423G>A
|
rs980089410
|
0.00002
|
NM_003839.4(TNFRSF11A):c.*759C>G
|
rs1048132784
|
0.00002
|
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=)
|
rs772827300
|
0.00002
|
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=)
|
rs200952751
|
0.00002
|
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His)
|
rs772315853
|
0.00002
|
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln)
|
rs777380464
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004333.6(BRAF):c.1023A>G (p.Pro341=)
|
rs56092510
|
0.00002
|
NM_004629.2(FANCG):c.*141A>G
|
rs1323568562
|
0.00002
|
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)
|
rs1217203217
|
0.00002
|
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
NM_005045.4(RELN):c.10287-7T>G
|
rs886061854
|
0.00002
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe)
|
rs371652596
|
0.00002
|
NM_005045.4(RELN):c.2189G>A (p.Arg730His)
|
rs370858334
|
0.00002
|
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro)
|
rs764681189
|
0.00002
|
NM_005045.4(RELN):c.2673G>A (p.Gln891=)
|
rs201156261
|
0.00002
|
NM_005045.4(RELN):c.2688C>T (p.His896=)
|
rs368049278
|
0.00002
|
NM_005045.4(RELN):c.3540-14T>A
|
rs754915287
|
0.00002
|
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)
|
rs140090640
|
0.00002
|
NM_005045.4(RELN):c.4296A>G (p.Gly1432=)
|
rs757003273
|
0.00002
|
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp)
|
rs140263617
|
0.00002
|
NM_005045.4(RELN):c.6147G>A (p.Ala2049=)
|
rs116750302
|
0.00002
|
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr)
|
rs747571208
|
0.00002
|
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr)
|
rs781713047
|
0.00002
|
NM_005546.4(ITK):c.*1682G>T
|
rs538864150
|
0.00002
|
NM_005546.4(ITK):c.*1945T>C
|
rs184752617
|
0.00002
|
NM_005546.4(ITK):c.*85A>C
|
rs143715615
|
0.00002
|
NM_005546.4(ITK):c.*873C>T
|
rs1439729137
|
0.00002
|
NM_005633.4(SOS1):c.*1385A>G
|
rs868000333
|
0.00002
|
NM_005633.4(SOS1):c.*1391C>T
|
rs1033636331
|
0.00002
|
NM_005633.4(SOS1):c.*230T>C
|
rs1264452853
|
0.00002
|
NM_005633.4(SOS1):c.*4076C>T
|
rs1040937396
|
0.00002
|
NM_005633.4(SOS1):c.3347-3C>T
|
rs779326746
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln)
|
rs754374236
|
0.00002
|
NM_006206.6(PDGFRA):c.*136G>A
|
rs886059450
|
0.00002
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
NM_006432.5(NPC2):c.*86G>A
|
rs146900446
|
0.00002
|
NM_006610.4(MASP2):c.446C>T (p.Ala149Val)
|
rs761179644
|
0.00002
|
NM_006610.4(MASP2):c.661T>C (p.Phe221Leu)
|
rs756947952
|
0.00002
|
NM_006610.4(MASP2):c.81C>T (p.Phe27=)
|
rs886045056
|
0.00002
|
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
|
rs775502935
|
0.00002
|
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=)
|
rs773053071
|
0.00002
|
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter)
|
rs766978225
|
0.00002
|
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
|
rs759053532
|
0.00002
|
NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln)
|
rs764335100
|
0.00002
|
NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp)
|
rs751980634
|
0.00002
|
NM_006929.5(SKIC2):c.2401A>G (p.Met801Val)
|
rs369020218
|
0.00002
|
NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys)
|
rs746407907
|
0.00002
|
NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu)
|
rs140350010
|
0.00002
|
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)
|
rs768503878
|
0.00002
|
NM_006947.4(SRP72):c.*1478C>A
|
rs1405583789
|
0.00002
|
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
|
rs1185247120
|
0.00002
|
NM_012092.4(ICOS):c.*594C>T
|
rs1391651175
|
0.00002
|
NM_012092.4(ICOS):c.*73T>C
|
rs756570847
|
0.00002
|
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu)
|
rs886054767
|
0.00002
|
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=)
|
rs530505647
|
0.00002
|
NM_014339.7(IL17RA):c.*2128A>G
|
rs1164039756
|
0.00002
|
NM_014339.7(IL17RA):c.*3533C>T
|
rs879082395
|
0.00002
|
NM_014339.7(IL17RA):c.*3823C>G
|
rs774888622
|
0.00002
|
NM_014339.7(IL17RA):c.*3869G>A
|
rs907407230
|
0.00002
|
NM_014339.7(IL17RA):c.*3943G>A
|
rs1229647331
|
0.00002
|
NM_014339.7(IL17RA):c.*665G>A
|
rs1272634665
|
0.00002
|
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=)
|
rs139412425
|
0.00002
|
NM_014339.7(IL17RA):c.121C>G (p.Leu41Val)
|
rs1295037189
|
0.00002
|
NM_014339.7(IL17RA):c.2086C>A (p.Leu696Met)
|
rs886057204
|
0.00002
|
NM_014339.7(IL17RA):c.482T>C (p.Val161Ala)
|
rs376923038
|
0.00002
|
NM_014339.7(IL17RA):c.758C>T (p.Pro253Leu)
|
rs779662031
|
0.00002
|
NM_014339.7(IL17RA):c.847A>G (p.Ile283Val)
|
rs886057202
|
0.00002
|
NM_015474.4(SAMHD1):c.*871G>A
|
rs1030352932
|
0.00002
|
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)
|
rs373079404
|
0.00002
|
NM_016123.4(IRAK4):c.*1162T>G
|
rs886049392
|
0.00002
|
NM_016123.4(IRAK4):c.*1594G>A
|
rs927867279
|
0.00002
|
NM_016123.4(IRAK4):c.*2471G>A
|
rs886049396
|
0.00002
|
NM_016123.4(IRAK4):c.*629T>G
|
rs1231360824
|
0.00002
|
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=)
|
rs773095217
|
0.00002
|
NM_016123.4(IRAK4):c.548G>A (p.Arg183Gln)
|
rs186194251
|
0.00002
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
NM_018344.6(SLC29A3):c.-31G>C
|
rs886047116
|
0.00002
|
NM_018389.5(SLC35C1):c.*561C>T
|
rs934108329
|
0.00002
|
NM_018389.5(SLC35C1):c.-218G>C
|
rs564660234
|
0.00002
|
NM_018389.5(SLC35C1):c.-481G>A
|
rs886048310
|
0.00002
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
NM_020661.4(AICDA):c.376C>T (p.Leu126=)
|
rs999930122
|
0.00002
|
NM_020661.4(AICDA):c.569G>A (p.Arg190Gln)
|
rs747680644
|
0.00002
|
NM_021922.3(FANCE):c.*213T>A
|
rs532782953
|
0.00002
|
NM_021922.3(FANCE):c.*322C>T
|
rs559999264
|
0.00002
|
NM_022051.3(EGLN1):c.*2577G>C
|
rs886046095
|
0.00002
|
NM_022051.3(EGLN1):c.*434T>G
|
rs974916553
|
0.00002
|
NM_022051.3(EGLN1):c.*841C>T
|
rs1042628099
|
0.00002
|
NM_022051.3(EGLN1):c.-111G>A
|
rs886046113
|
0.00002
|
NM_022051.3(EGLN1):c.-46C>T
|
rs899734016
|
0.00002
|
NM_022051.3(EGLN1):c.522C>T (p.Ser174=)
|
rs767045832
|
0.00002
|
NM_022725.4(FANCF):c.*555T>C
|
rs1306529494
|
0.00002
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_032043.3(BRIP1):c.*1330C>T
|
rs933049932
|
0.00002
|
NM_032043.3(BRIP1):c.*3000C>G
|
rs1373033399
|
0.00002
|
NM_032043.3(BRIP1):c.*3307T>C
|
rs886053199
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
NM_032193.3(RNASEH2C):c.-139G>T
|
rs928515689
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1504G>A
|
rs886048489
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1778C>G
|
rs886048485
|
0.00002
|
NM_032193.4(RNASEH2C):c.*223G>A
|
rs886048497
|
0.00002
|
NM_032193.4(RNASEH2C):c.*940A>G
|
rs767097041
|
0.00002
|
NM_032193.4(RNASEH2C):c.348+6C>T
|
rs779293116
|
0.00002
|
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp)
|
rs759118175
|
0.00002
|
NM_032444.4(SLX4):c.-305C>T
|
rs886051983
|
0.00002
|
NM_032444.4(SLX4):c.-580T>C
|
rs886051985
|
0.00002
|
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu)
|
rs769694224
|
0.00002
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr)
|
rs763524714
|
0.00002
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
0.00002
|
NM_032977.4(CASP10):c.*1366T>C
|
rs886055415
|
0.00002
|
NM_032977.4(CASP10):c.*1954C>T
|
rs998383242
|
0.00002
|
NM_032977.4(CASP10):c.*2844C>T
|
rs886055424
|
0.00002
|
NM_032977.4(CASP10):c.*3478T>G
|
rs886055431
|
0.00002
|
NM_032977.4(CASP10):c.*3845C>T
|
rs886535066
|
0.00002
|
NM_032977.4(CASP10):c.*733A>T
|
rs1019052979
|
0.00002
|
NM_033360.4(KRAS):c.*16T>C
|
rs779184057
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_033629.6(TREX1):c.-100C>T
|
rs886058623
|
0.00002
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00002
|
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu)
|
rs752004065
|
0.00002
|
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala)
|
rs780195098
|
0.00002
|
NM_080424.4(SP110):c.386A>G (p.Glu129Gly)
|
rs140974206
|
0.00002
|
NM_080911.3(UNG):c.769T>C (p.Tyr257His)
|
rs769188214
|
0.00002
|
NM_133459.4(CCBE1):c.*1190C>T
|
rs550948127
|
0.00002
|
NM_133459.4(CCBE1):c.*1401G>C
|
rs563683232
|
0.00002
|
NM_133459.4(CCBE1):c.*3800G>A
|
rs1296262836
|
0.00002
|
NM_133459.4(CCBE1):c.*610G>A
|
rs551011131
|
0.00002
|
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=)
|
rs114504060
|
0.00002
|
NM_133459.4(CCBE1):c.552T>C (p.Thr184=)
|
rs771507895
|
0.00002
|
NM_138387.4(G6PC3):c.-155T>A
|
rs756204705
|
0.00002
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)
|
rs782239711
|
0.00002
|
NM_139027.6(ADAMTS13):c.15C>T (p.His5=)
|
rs77985067
|
0.00002
|
NM_139027.6(ADAMTS13):c.1706-3T>A
|
rs781888317
|
0.00002
|
NM_139027.6(ADAMTS13):c.3044+8A>C
|
rs886063636
|
0.00002
|
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile)
|
rs369026148
|
0.00002
|
NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser)
|
rs1554785883
|
0.00002
|
NM_144687.4(NLRP12):c.*108T>C
|
rs1255385830
|
0.00002
|
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=)
|
rs750552324
|
0.00002
|
NM_144687.4(NLRP12):c.550G>A (p.Ala184Thr)
|
rs766308091
|
0.00002
|
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln)
|
rs758313787
|
0.00002
|
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp)
|
rs560723051
|
0.00002
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln)
|
rs138148013
|
0.00002
|
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His)
|
rs398124338
|
0.00002
|
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys)
|
rs753075331
|
0.00002
|
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln)
|
rs777528760
|
0.00002
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg)
|
rs772658121
|
0.00002
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
NM_172351.3(CD46):c.*1211C>T
|
rs1248620643
|
0.00002
|
NM_172351.3(CD46):c.*672A>T
|
rs1430844015
|
0.00002
|
NM_172351.3(CD46):c.-127A>G
|
rs1023894625
|
0.00002
|
NM_173842.3(IL1RN):c.*303C>G
|
rs766555019
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_182746.3(MCM4):c.693G>A (p.Gln231=)
|
rs557349481
|
0.00002
|
NM_183235.3(RAB27A):c.*2135C>A
|
rs1025029271
|
0.00002
|
NM_199242.3(UNC13D):c.1369C>A (p.Leu457Met)
|
rs556930184
|
0.00002
|
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)
|
rs753021453
|
0.00002
|
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs)
|
rs766652119
|
0.00002
|
NM_203447.4(DOCK8):c.*150A>T
|
rs886063981
|
0.00002
|
NM_203447.4(DOCK8):c.*344A>G
|
rs1409715154
|
0.00002
|
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met)
|
rs770643758
|
0.00002
|
NM_203447.4(DOCK8):c.2946T>C (p.Tyr982=)
|
rs762327114
|
0.00002
|
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser)
|
rs527474230
|
0.00002
|
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=)
|
rs377297446
|
0.00002
|
NM_203447.4(DOCK8):c.4148C>G (p.Ala1383Gly)
|
rs745583957
|
0.00002
|
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr)
|
rs534744136
|
0.00002
|
NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg)
|
rs971992611
|
0.00002
|
NM_206937.2(LIG4):c.*291A>G
|
rs1033897436
|
0.00002
|
NM_206937.2(LIG4):c.*352A>C
|
rs886049944
|
0.00002
|
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)
|
rs147181971
|
0.00002
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)
|
rs748716395
|
0.00002
|
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg)
|
rs754996739
|
0.00002
|
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)
|
rs748385144
|
0.00002
|
NM_000022.4(ADA):c.*174T>A
|
rs886056706
|
0.00001
|
NM_000022.4(ADA):c.-28G>C
|
rs1186616350
|
0.00001
|
NM_000022.4(ADA):c.-67C>T
|
rs926706024
|
0.00001
|
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
|
rs1306348962
|
0.00001
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
NM_000043.5(FAS):c.-288C>T
|
rs938458478
|
0.00001
|
NM_000043.6(FAS):c.*1313G>A
|
rs192544176
|
0.00001
|
NM_000043.6(FAS):c.176G>T (p.Cys59Phe)
|
rs886047459
|
0.00001
|
NM_000043.6(FAS):c.694T>C (p.Tyr232His)
|
rs767866112
|
0.00001
|
NM_000051.3(ATM):c.-174A>C
|
rs928618464
|
0.00001
|
NM_000051.3(ATM):c.-229C>G
|
rs886047608
|
0.00001
|
NM_000051.4(ATM):c.*1640C>T
|
rs886047622
|
0.00001
|
NM_000051.4(ATM):c.*244G>A
|
rs1280155397
|
0.00001
|
NM_000051.4(ATM):c.*3325A>G
|
rs886047630
|
0.00001
|
NM_000051.4(ATM):c.*605G>A
|
rs2091314734
|
0.00001
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)
|
rs776581499
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys)
|
rs571989748
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
NM_000051.4(ATM):c.5635C>A (p.Gln1879Lys)
|
rs756109905
|
0.00001
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)
|
rs730881329
|
0.00001
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
NM_000059.4(BRCA2):c.*271C>A
|
rs868342410
|
0.00001
|
NM_000059.4(BRCA2):c.*50A>G
|
rs761312704
|
0.00001
|
NM_000059.4(BRCA2):c.-40+7G>T
|
rs1555279969
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
rs398122547
|
0.00001
|
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)
|
rs1555281106
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)
|
rs80358895
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)
|
rs764698623
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
NM_000061.3(BTK):c.100G>A (p.Val34Met)
|
rs141488935
|
0.00001
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
NM_000063.6(C2):c.1082C>T (p.Thr361Met)
|
rs61730574
|
0.00001
|
NM_000063.6(C2):c.283T>G (p.Phe95Val)
|
rs201023669
|
0.00001
|
NM_000063.6(C2):c.819C>T (p.Phe273=)
|
rs886360667
|
0.00001
|
NM_000064.4(C3):c.1042A>G (p.Ile348Val)
|
rs141737564
|
0.00001
|
NM_000064.4(C3):c.1296G>A (p.Ser432=)
|
rs760150621
|
0.00001
|
NM_000064.4(C3):c.1767C>T (p.His589=)
|
rs775843240
|
0.00001
|
NM_000064.4(C3):c.2403G>A (p.Thr801=)
|
rs886054654
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2450T>A (p.Val817Glu)
|
rs886054653
|
0.00001
|
NM_000064.4(C3):c.2583+9C>T
|
rs372400121
|
0.00001
|
NM_000064.4(C3):c.2646C>T (p.His882=)
|
rs377316231
|
0.00001
|
NM_000064.4(C3):c.2793C>T (p.Val931=)
|
rs781226831
|
0.00001
|
NM_000064.4(C3):c.3970-15C>G
|
rs1233140401
|
0.00001
|
NM_000064.4(C3):c.3993A>G (p.Thr1331=)
|
rs202210310
|
0.00001
|
NM_000064.4(C3):c.4121-4C>T
|
rs747452882
|
0.00001
|
NM_000064.4(C3):c.443G>A (p.Arg148Gln)
|
rs886054657
|
0.00001
|
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)
|
rs746985605
|
0.00001
|
NM_000064.4(C3):c.4850+12C>A
|
rs748416799
|
0.00001
|
NM_000064.4(C3):c.4941G>A (p.Gln1647=)
|
rs780251209
|
0.00001
|
NM_000073.3(CD3G):c.*363C>T
|
rs1044606855
|
0.00001
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)
|
rs202010795
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000121.4(EPOR):c.-68G>A
|
rs886054194
|
0.00001
|
NM_000121.4(EPOR):c.116-10C>T
|
rs1232303475
|
0.00001
|
NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)
|
rs781761386
|
0.00001
|
NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)
|
rs770608744
|
0.00001
|
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)
|
rs776887278
|
0.00001
|
NM_000121.4(EPOR):c.861G>A (p.Pro287=)
|
rs369085901
|
0.00001
|
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)
|
rs776698147
|
0.00001
|
NM_000135.4(FANCA):c.*625C>T
|
rs779094661
|
0.00001
|
NM_000135.4(FANCA):c.*851G>A
|
rs886052478
|
0.00001
|
NM_000135.4(FANCA):c.-28C>G
|
rs886052490
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000135.4(FANCA):c.4010+12C>T
|
rs1445940471
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
|
rs749380996
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000136.3(FANCC):c.*1045C>T
|
rs537983135
|
0.00001
|
NM_000136.3(FANCC):c.*143A>G
|
rs189154697
|
0.00001
|
NM_000136.3(FANCC):c.*1976C>T
|
rs752733985
|
0.00001
|
NM_000136.3(FANCC):c.*2128C>T
|
rs567507884
|
0.00001
|
NM_000136.3(FANCC):c.*2402G>C
|
rs1354689137
|
0.00001
|
NM_000136.3(FANCC):c.*2528A>G
|
rs1057515696
|
0.00001
|
NM_000136.3(FANCC):c.*576C>T
|
rs1057515701
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000178.4(GSS):c.*185C>T
|
rs2081370708
|
0.00001
|
NM_000178.4(GSS):c.1186A>G (p.Ile396Val)
|
rs771438550
|
0.00001
|
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
|
rs749741013
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000204.5(CFI):c.1112G>T (p.Gly371Val)
|
rs763931500
|
0.00001
|
NM_000204.5(CFI):c.1429+5A>G
|
rs771786368
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.209A>C (p.Asn70Thr)
|
rs749553820
|
0.00001
|
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
|
rs762431670
|
0.00001
|
NM_000204.5(CFI):c.781G>A (p.Gly261Ser)
|
rs547901965
|
0.00001
|
NM_000206.3(IL2RG):c.*133G>A
|
rs560555283
|
0.00001
|
NM_000206.3(IL2RG):c.1010C>G (p.Pro337Arg)
|
rs753250328
|
0.00001
|
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu)
|
rs368899902
|
0.00001
|
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His)
|
rs1381775363
|
0.00001
|
NM_000211.5(ITGB2):c.1225-10T>A
|
rs886057118
|
0.00001
|
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His)
|
rs201703437
|
0.00001
|
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His)
|
rs550704811
|
0.00001
|
NM_000211.5(ITGB2):c.2247+10C>T
|
rs147248229
|
0.00001
|
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr)
|
rs548099370
|
0.00001
|
NM_000211.5(ITGB2):c.328+14C>T
|
rs780089604
|
0.00001
|
NM_000211.5(ITGB2):c.432G>A (p.Arg144=)
|
rs886057119
|
0.00001
|
NM_000211.5(ITGB2):c.528G>C (p.Val176=)
|
rs200639854
|
0.00001
|
NM_000215.3(JAK3):c.-105G>A
|
rs950208815
|
0.00001
|
NM_000215.4(JAK3):c.*1264G>C
|
rs552602675
|
0.00001
|
NM_000215.4(JAK3):c.*1531T>C
|
rs886054268
|
0.00001
|
NM_000215.4(JAK3):c.-3C>T
|
rs754275786
|
0.00001
|
NM_000215.4(JAK3):c.1550C>T (p.Pro517Leu)
|
rs759375144
|
0.00001
|
NM_000215.4(JAK3):c.1586A>G (p.His529Arg)
|
rs142805245
|
0.00001
|
NM_000215.4(JAK3):c.1609C>T (p.Arg537Trp)
|
rs746305522
|
0.00001
|
NM_000215.4(JAK3):c.1646G>A (p.Arg549Gln)
|
rs201972084
|
0.00001
|
NM_000215.4(JAK3):c.190C>T (p.Leu64=)
|
rs886054280
|
0.00001
|
NM_000215.4(JAK3):c.521C>T (p.Ala174Val)
|
rs767865565
|
0.00001
|
NM_000222.3(KIT):c.*1190A>G
|
rs1016796314
|
0.00001
|
NM_000222.3(KIT):c.*2041A>G
|
rs922217138
|
0.00001
|
NM_000222.3(KIT):c.*368C>T
|
rs886059465
|
0.00001
|
NM_000222.3(KIT):c.*393A>G
|
rs886059466
|
0.00001
|
NM_000222.3(KIT):c.*575A>G
|
rs950845391
|
0.00001
|
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)
|
rs878853760
|
0.00001
|
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)
|
rs756179543
|
0.00001
|
NM_000222.3(KIT):c.1889A>G (p.His630Arg)
|
rs373554876
|
0.00001
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
NM_000222.3(KIT):c.301C>T (p.His101Tyr)
|
rs781130745
|
0.00001
|
NM_000243.3(MEFV):c.*1080A>G
|
rs568129540
|
0.00001
|
NM_000243.3(MEFV):c.*19C>T
|
rs761376734
|
0.00001
|
NM_000243.3(MEFV):c.*543C>T
|
rs886051970
|
0.00001
|
NM_000243.3(MEFV):c.*690G>T
|
rs1308863589
|
0.00001
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
NM_000243.3(MEFV):c.377G>T (p.Gly126Val)
|
rs1390689550
|
0.00001
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000246.4(CIITA):c.*493T>C
|
rs886051643
|
0.00001
|
NM_000246.4(CIITA):c.*587A>G
|
rs374276437
|
0.00001
|
NM_000246.4(CIITA):c.*658G>A
|
rs1019236857
|
0.00001
|
NM_000246.4(CIITA):c.*667T>C
|
rs1177422629
|
0.00001
|
NM_000246.4(CIITA):c.-82G>A
|
rs886051635
|
0.00001
|
NM_000246.4(CIITA):c.1211C>T (p.Ala404Val)
|
rs1392912244
|
0.00001
|
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln)
|
rs572327540
|
0.00001
|
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu)
|
rs774567918
|
0.00001
|
NM_000246.4(CIITA):c.1635C>G (p.Leu545=)
|
rs748330320
|
0.00001
|
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg)
|
rs886051642
|
0.00001
|
NM_000246.4(CIITA):c.2139G>A (p.Leu713=)
|
rs1319022837
|
0.00001
|
NM_000246.4(CIITA):c.2458G>A (p.Gly820Arg)
|
rs2039291800
|
0.00001
|
NM_000246.4(CIITA):c.2709G>A (p.Gly903=)
|
rs755515727
|
0.00001
|
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala)
|
rs747917501
|
0.00001
|
NM_000246.4(CIITA):c.3149+11C>T
|
rs371453398
|
0.00001
|
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu)
|
rs757017931
|
0.00001
|
NM_000246.4(CIITA):c.63G>C (p.Gln21His)
|
rs748905238
|
0.00001
|
NM_000271.5(NPC1):c.*718C>T
|
rs1227797863
|
0.00001
|
NM_000271.5(NPC1):c.-29C>G
|
rs762126552
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
|
rs751586141
|
0.00001
|
NM_000271.5(NPC1):c.2131-1del
|
rs1567954054
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
|
rs146666146
|
0.00001
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
|
rs200264267
|
0.00001
|
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
|
rs887908568
|
0.00001
|
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
|
rs754653682
|
0.00001
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
NM_000355.4(TCN2):c.*329G>A
|
rs779850312
|
0.00001
|
NM_000355.4(TCN2):c.*37C>T
|
rs531866634
|
0.00001
|
NM_000355.4(TCN2):c.*383C>T
|
rs896720175
|
0.00001
|
NM_000355.4(TCN2):c.-67C>T
|
rs1432247695
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
|
rs773855163
|
0.00001
|
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
|
rs763836785
|
0.00001
|
NM_000361.3(THBD):c.*1315C>T
|
rs886056541
|
0.00001
|
NM_000361.3(THBD):c.*1505C>G
|
rs1439185320
|
0.00001
|
NM_000361.3(THBD):c.*1689C>T
|
rs886056540
|
0.00001
|
NM_000361.3(THBD):c.*169G>A
|
rs543317002
|
0.00001
|
NM_000361.3(THBD):c.*509C>T
|
rs1189083158
|
0.00001
|
NM_000361.3(THBD):c.-38G>A
|
rs750724405
|
0.00001
|
NM_000361.3(THBD):c.72G>A (p.Gln24=)
|
rs1185401752
|
0.00001
|
NM_000417.3(IL2RA):c.*1084C>T
|
rs1305512354
|
0.00001
|
NM_000417.3(IL2RA):c.*1454A>G
|
rs886047075
|
0.00001
|
NM_000417.3(IL2RA):c.*1650G>A
|
rs886047071
|
0.00001
|
NM_000417.3(IL2RA):c.*2144T>G
|
rs757107768
|
0.00001
|
NM_000417.3(IL2RA):c.*767C>T
|
rs143416542
|
0.00001
|
NM_000417.3(IL2RA):c.-26C>T
|
rs1016265267
|
0.00001
|
NM_000417.3(IL2RA):c.167G>A (p.Arg56His)
|
rs886047083
|
0.00001
|
NM_000417.3(IL2RA):c.252C>T (p.Ser84=)
|
rs1034684102
|
0.00001
|
NM_000431.4(MVK):c.*550G>A
|
rs886048936
|
0.00001
|
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln)
|
rs886048934
|
0.00001
|
NM_000431.4(MVK):c.484G>A (p.Glu162Lys)
|
rs200457031
|
0.00001
|
NM_000431.4(MVK):c.527+13C>A
|
rs199670546
|
0.00001
|
NM_000431.4(MVK):c.527+8T>C
|
rs377547988
|
0.00001
|
NM_000433.4(NCF2):c.*445A>C
|
rs886045647
|
0.00001
|
NM_000433.4(NCF2):c.-98T>C
|
rs755614780
|
0.00001
|
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys)
|
rs748489095
|
0.00001
|
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr)
|
rs886045653
|
0.00001
|
NM_000433.4(NCF2):c.443C>T (p.Thr148Met)
|
rs764142541
|
0.00001
|
NM_000433.4(NCF2):c.996A>G (p.Ser332=)
|
rs1192520130
|
0.00001
|
NM_000448.3(RAG1):c.*1146C>T
|
rs1051248827
|
0.00001
|
NM_000448.3(RAG1):c.*1287T>C
|
rs1035645614
|
0.00001
|
NM_000448.3(RAG1):c.*1293G>C
|
rs1214769858
|
0.00001
|
NM_000448.3(RAG1):c.*1478C>T
|
rs898762722
|
0.00001
|
NM_000448.3(RAG1):c.*1767A>C
|
rs1183147057
|
0.00001
|
NM_000448.3(RAG1):c.*200C>T
|
rs886048256
|
0.00001
|
NM_000448.3(RAG1):c.*2012T>C
|
rs1475530896
|
0.00001
|
NM_000448.3(RAG1):c.*2289T>G
|
rs200013770
|
0.00001
|
NM_000448.3(RAG1):c.*2828G>A
|
rs1003540768
|
0.00001
|
NM_000448.3(RAG1):c.*344G>A
|
rs886048257
|
0.00001
|
NM_000448.3(RAG1):c.*47T>C
|
rs955448714
|
0.00001
|
NM_000448.3(RAG1):c.*709A>G
|
rs1203179556
|
0.00001
|
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val)
|
rs886048254
|
0.00001
|
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)
|
rs533714087
|
0.00001
|
NM_000448.3(RAG1):c.831G>A (p.Lys277=)
|
rs1376996089
|
0.00001
|
NM_000536.4(RAG2):c.*582T>C
|
rs568192751
|
0.00001
|
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
|
rs557047531
|
0.00001
|
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)
|
rs1351286949
|
0.00001
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser)
|
rs886048272
|
0.00001
|
NM_000538.3(RFXAP):c.*1387T>C
|
rs886050145
|
0.00001
|
NM_000538.3(RFXAP):c.*1703A>T
|
rs997203433
|
0.00001
|
NM_000538.3(RFXAP):c.-144G>A
|
rs886050140
|
0.00001
|
NM_000538.4(RFXAP):c.*351G>A
|
rs1396109192
|
0.00001
|
NM_000538.4(RFXAP):c.*488A>G
|
rs1265459000
|
0.00001
|
NM_000538.4(RFXAP):c.-131C>T
|
rs1021353605
|
0.00001
|
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)
|
rs772887500
|
0.00001
|
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val)
|
rs1344939848
|
0.00001
|
NM_000543.5(SMPD1):c.*183T>G
|
rs886048448
|
0.00001
|
NM_000543.5(SMPD1):c.-39A>T
|
rs767402489
|
0.00001
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys)
|
rs774651673
|
0.00001
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile)
|
rs757364674
|
0.00001
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
0.00001
|
NM_000543.5(SMPD1):c.291A>G (p.Leu97=)
|
rs144428799
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys)
|
rs886048446
|
0.00001
|
NM_000628.5(IL10RB):c.*519A>G
|
rs1339192870
|
0.00001
|
NM_000639.3(FASLG):c.*119G>A
|
rs753021852
|
0.00001
|
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser)
|
rs756917304
|
0.00001
|
NM_000639.3(FASLG):c.452-12G>A
|
rs759351686
|
0.00001
|
NM_000732.6(CD3D):c.-46T>C
|
rs886047740
|
0.00001
|
NM_000732.6(CD3D):c.-93C>T
|
rs772705529
|
0.00001
|
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg)
|
rs1291390174
|
0.00001
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)
|
rs1057515805
|
0.00001
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)
|
rs1057515808
|
0.00001
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
|
rs2087692676
|
0.00001
|
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
|
rs769811062
|
0.00001
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)
|
rs1168183069
|
0.00001
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)
|
rs771078251
|
0.00001
|
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
|
rs760054945
|
0.00001
|
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+179C>T
|
rs370459744
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+525A>G
|
rs886057695
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+562C>A
|
rs550613588
|
0.00001
|
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
0.00001
|
NM_001025603.2(RFX5):c.*1252C>G
|
rs886045277
|
0.00001
|
NM_001025603.2(RFX5):c.*29T>G
|
rs1650494131
|
0.00001
|
NM_001025603.2(RFX5):c.*661T>C
|
rs1650447532
|
0.00001
|
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala)
|
rs1290400173
|
0.00001
|
NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn)
|
rs750907232
|
0.00001
|
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly)
|
rs1267411733
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*1276C>G
|
rs531017475
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*1535A>G
|
rs1352005289
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*314G>A
|
rs886046845
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*74G>A
|
rs1374817881
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*768G>T
|
rs959243137
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*772A>G
|
rs773288131
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)
|
rs529177486
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp)
|
rs767573884
|
0.00001
|
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=)
|
rs886046850
|
0.00001
|
NM_001033855.3(DCLRE1C):c.679-3T>C
|
rs186192379
|
0.00001
|
NM_001033855.3(DCLRE1C):c.780+5G>A
|
rs1392493001
|
0.00001
|
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg)
|
rs748507317
|
0.00001
|
NM_001065.4(TNFRSF1A):c.*148C>T
|
rs543718521
|
0.00001
|
NM_001065.4(TNFRSF1A):c.*38C>T
|
rs200297634
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
NM_001079.4(ZAP70):c.*228G>A
|
rs199863225
|
0.00001
|
NM_001079.4(ZAP70):c.*48C>T
|
rs1411918610
|
0.00001
|
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys)
|
rs781463009
|
0.00001
|
NM_001079.4(ZAP70):c.1083-3C>A
|
rs199890589
|
0.00001
|
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=)
|
rs1289751768
|
0.00001
|
NM_001079.4(ZAP70):c.403-3T>C
|
rs202193449
|
0.00001
|
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser)
|
rs200295650
|
0.00001
|
NM_001083116.3(PRF1):c.*176A>T
|
rs573468737
|
0.00001
|
NM_001083116.3(PRF1):c.-53C>T
|
rs886047111
|
0.00001
|
NM_001083116.3(PRF1):c.111C>T (p.Phe37=)
|
rs547321451
|
0.00001
|
NM_001083116.3(PRF1):c.1135C>T (p.Arg379Trp)
|
rs896384244
|
0.00001
|
NM_001083116.3(PRF1):c.194G>A (p.Arg65Lys)
|
rs750244443
|
0.00001
|
NM_001083116.3(PRF1):c.55G>A (p.Val19Ile)
|
rs772896823
|
0.00001
|
NM_001113378.2(FANCI):c.-23G>A
|
rs886051506
|
0.00001
|
NM_001113378.2(FANCI):c.-72C>G
|
rs886051505
|
0.00001
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
|
rs1043718711
|
0.00001
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr)
|
rs139834845
|
0.00001
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
NM_001167.4(XIAP):c.*1869G>A
|
rs1225539193
|
0.00001
|
NM_001167.4(XIAP):c.*1950C>T
|
rs1404651190
|
0.00001
|
NM_001167.4(XIAP):c.*3205T>C
|
rs777738703
|
0.00001
|
NM_001167.4(XIAP):c.*3673C>T
|
rs1304742588
|
0.00001
|
NM_001167.4(XIAP):c.*3997A>G
|
rs1057515755
|
0.00001
|
NM_001167.4(XIAP):c.*5986G>A
|
rs1037241174
|
0.00001
|
NM_001167.4(XIAP):c.*6009C>T
|
rs1183404777
|
0.00001
|
NM_001167.4(XIAP):c.*6256T>C
|
rs972613558
|
0.00001
|
NM_001228.5(CASP8):c.-83T>C
|
rs1275984964
|
0.00001
|
NM_001243133.2(NLRP3):c.-685G>A
|
rs768557674
|
0.00001
|
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)
|
rs201384608
|
0.00001
|
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)
|
rs202232879
|
0.00001
|
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)
|
rs1057515531
|
0.00001
|
NM_001243133.2(NLRP3):c.2926A>C (p.Asn976His)
|
rs1278737134
|
0.00001
|
NM_001250.6(CD40):c.*560C>T
|
rs1185046356
|
0.00001
|
NM_001250.6(CD40):c.256+8C>T
|
rs775430615
|
0.00001
|
NM_001369369.1(FOXN1):c.*300C>T
|
rs569202493
|
0.00001
|
NM_001369369.1(FOXN1):c.*620C>T
|
rs886052762
|
0.00001
|
NM_001369369.1(FOXN1):c.-14-28A>G
|
rs1363021935
|
0.00001
|
NM_001369369.1(FOXN1):c.1135+3G>A
|
rs755005215
|
0.00001
|
NM_001369369.1(FOXN1):c.1216G>A (p.Gly406Ser)
|
rs772140783
|
0.00001
|
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)
|
rs146694795
|
0.00001
|
NM_001369369.1(FOXN1):c.1651G>T (p.Asp551Tyr)
|
rs757413677
|
0.00001
|
NM_001369369.1(FOXN1):c.1752G>A (p.Gly584=)
|
rs769103640
|
0.00001
|
NM_001369369.1(FOXN1):c.373C>A (p.Pro125Thr)
|
rs757155505
|
0.00001
|
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=)
|
rs553583507
|
0.00001
|
NM_001369369.1(FOXN1):c.589-12C>A
|
rs185748978
|
0.00001
|
NM_001370466.1(NOD2):c.*1200A>G
|
rs980810508
|
0.00001
|
NM_001370466.1(NOD2):c.*609C>T
|
rs1965489095
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)
|
rs369957746
|
0.00001
|
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter)
|
rs761449474
|
0.00001
|
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)
|
rs758913334
|
0.00001
|
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)
|
rs1292846110
|
0.00001
|
NM_001372051.1(CASP8):c.*194T>A
|
rs577963682
|
0.00001
|
NM_001372051.1(CASP8):c.*304C>T
|
rs886055433
|
0.00001
|
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala)
|
rs771197994
|
0.00001
|
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)
|
rs768360449
|
0.00001
|
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter)
|
rs747862347
|
0.00001
|
NM_001372051.1(CASP8):c.469T>C (p.Leu157=)
|
rs759581547
|
0.00001
|
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp)
|
rs553241803
|
0.00001
|
NM_001375808.2(LPIN2):c.*1104C>T
|
rs913148654
|
0.00001
|
NM_001375808.2(LPIN2):c.*1146T>C
|
rs1384648245
|
0.00001
|
NM_001375808.2(LPIN2):c.*1239C>T
|
rs1257894281
|
0.00001
|
NM_001375808.2(LPIN2):c.*1497C>T
|
rs1321388898
|
0.00001
|
NM_001375808.2(LPIN2):c.*493G>C
|
rs886053758
|
0.00001
|
NM_001375808.2(LPIN2):c.*506C>T
|
rs886053757
|
0.00001
|
NM_001375808.2(LPIN2):c.*517G>A
|
rs760055818
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1254G>A
|
rs886053770
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1349A>G
|
rs538473680
|
0.00001
|
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile)
|
rs886053767
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=)
|
rs886053766
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg)
|
rs139798681
|
0.00001
|
NM_001378373.1(MBL2):c.*1213C>T
|
rs1840313554
|
0.00001
|
NM_001378373.1(MBL2):c.*1448C>T
|
rs1403377181
|
0.00001
|
NM_001378373.1(MBL2):c.*1839A>G
|
rs1203114895
|
0.00001
|
NM_001378373.1(MBL2):c.*289C>T
|
rs886047050
|
0.00001
|
NM_001378373.1(MBL2):c.*674A>G
|
rs886047049
|
0.00001
|
NM_001378373.1(MBL2):c.*708G>A
|
rs558872633
|
0.00001
|
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser)
|
rs201511397
|
0.00001
|
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser)
|
rs1342494768
|
0.00001
|
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu)
|
rs886047052
|
0.00001
|
NM_001378373.1(MBL2):c.249G>T (p.Gly83=)
|
rs757152192
|
0.00001
|
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro)
|
rs1049360705
|
0.00001
|
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)
|
rs780449116
|
0.00001
|
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)
|
rs776003487
|
0.00001
|
NM_001378687.1(ATP2C1):c.*1203del
|
rs886057988
|
0.00001
|
NM_001378687.1(ATP2C1):c.*1204A>T
|
rs886057989
|
0.00001
|
NM_001378687.1(ATP2C1):c.*1264T>C
|
rs886057992
|
0.00001
|
NM_001378687.1(ATP2C1):c.*609A>G
|
rs1198664761
|
0.00001
|
NM_001378687.1(ATP2C1):c.*881A>G
|
rs181188000
|
0.00001
|
NM_001378687.1(ATP2C1):c.*946T>G
|
rs886057987
|
0.00001
|
NM_001378687.1(ATP2C1):c.-180-72G>A
|
rs951311479
|
0.00001
|
NM_001378687.1(ATP2C1):c.-66C>T
|
rs886057979
|
0.00001
|
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg)
|
rs1329817993
|
0.00001
|
NM_001378687.1(ATP2C1):c.532-6C>T
|
rs886057981
|
0.00001
|
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val)
|
rs1349846001
|
0.00001
|
NM_001378687.1(ATP2C1):c.899+6T>C
|
rs1430775611
|
0.00001
|
NM_001430.5(EPAS1):c.*1729T>C
|
rs540325300
|
0.00001
|
NM_001430.5(EPAS1):c.*486C>T
|
rs886056090
|
0.00001
|
NM_001430.5(EPAS1):c.-452A>C
|
rs886056076
|
0.00001
|
NM_001430.5(EPAS1):c.-86C>T
|
rs886056083
|
0.00001
|
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)
|
rs999859536
|
0.00001
|
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln)
|
rs374829070
|
0.00001
|
NM_001430.5(EPAS1):c.882G>C (p.Gln294His)
|
rs769949241
|
0.00001
|
NM_001558.4(IL10RA):c.*104C>G
|
rs886047710
|
0.00001
|
NM_001558.4(IL10RA):c.*405G>A
|
rs768366983
|
0.00001
|
NM_001558.4(IL10RA):c.-29C>T
|
rs755865901
|
0.00001
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
NM_001558.4(IL10RA):c.188+3G>A
|
rs780334422
|
0.00001
|
NM_001558.4(IL10RA):c.447G>A (p.Lys149=)
|
rs750580462
|
0.00001
|
NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu)
|
rs755758777
|
0.00001
|
NM_001710.6(CFB):c.1762T>C (p.Tyr588His)
|
rs1364257553
|
0.00001
|
NM_001710.6(CFB):c.917A>G (p.Lys306Arg)
|
rs374738591
|
0.00001
|
NM_001770.6(CD19):c.1204G>A (p.Glu402Lys)
|
rs886051887
|
0.00001
|
NM_001770.6(CD19):c.488G>A (p.Arg163His)
|
rs772346128
|
0.00001
|
NM_001770.6(CD19):c.687G>C (p.Glu229Asp)
|
rs773781983
|
0.00001
|
NM_001814.6(CTSC):c.1097A>T (p.His366Leu)
|
rs751798574
|
0.00001
|
NM_001814.6(CTSC):c.12G>A (p.Gly4=)
|
rs755959403
|
0.00001
|
NM_001814.6(CTSC):c.318+4A>G
|
rs781383788
|
0.00001
|
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys)
|
rs763656343
|
0.00001
|
NM_001814.6(CTSC):c.642-15A>G
|
rs748280232
|
0.00001
|
NM_001814.6(CTSC):c.81T>G (p.Pro27=)
|
rs1370319468
|
0.00001
|
NM_002185.5(IL7R):c.*1821C>T
|
rs1302897570
|
0.00001
|
NM_002185.5(IL7R):c.*2408G>A
|
rs1318974974
|
0.00001
|
NM_002185.5(IL7R):c.*539C>T
|
rs886060532
|
0.00001
|
NM_002185.5(IL7R):c.*646C>T
|
rs569906853
|
0.00001
|
NM_002185.5(IL7R):c.*862C>T
|
rs886060537
|
0.00001
|
NM_002185.5(IL7R):c.149G>T (p.Gly50Val)
|
rs202083738
|
0.00001
|
NM_002185.5(IL7R):c.418C>T (p.Arg140Trp)
|
rs773491081
|
0.00001
|
NM_002185.5(IL7R):c.554G>T (p.Ser185Ile)
|
rs1188286965
|
0.00001
|
NM_002185.5(IL7R):c.682A>C (p.Thr228Pro)
|
rs762736419
|
0.00001
|
NM_002185.5(IL7R):c.83-2A>T
|
rs886060531
|
0.00001
|
NM_002351.5(SH2D1A):c.*26A>T
|
rs1240769541
|
0.00001
|
NM_002435.3(MPI):c.*441G>C
|
rs1042476793
|
0.00001
|
NM_002435.3(MPI):c.*483G>C
|
rs886051486
|
0.00001
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
NM_002435.3(MPI):c.472G>A (p.Val158Ile)
|
rs886051482
|
0.00001
|
NM_002435.3(MPI):c.902A>G (p.Lys301Arg)
|
rs534508637
|
0.00001
|
NM_002524.5(NRAS):c.*1466A>T
|
rs374183050
|
0.00001
|
NM_002524.5(NRAS):c.*1571A>G
|
rs1457248724
|
0.00001
|
NM_002524.5(NRAS):c.*1974T>C
|
rs1658914654
|
0.00001
|
NM_002524.5(NRAS):c.*2188C>A
|
rs1249096456
|
0.00001
|
NM_002524.5(NRAS):c.*3103G>T
|
rs1290377688
|
0.00001
|
NM_002524.5(NRAS):c.*3341A>T
|
rs1658865519
|
0.00001
|
NM_002524.5(NRAS):c.*340G>A
|
rs1176222040
|
0.00001
|
NM_002524.5(NRAS):c.*536C>T
|
rs886045108
|
0.00001
|
NM_002524.5(NRAS):c.*774A>G
|
rs886045107
|
0.00001
|
NM_002524.5(NRAS):c.112-6C>G
|
rs200604652
|
0.00001
|
NM_002524.5(NRAS):c.250A>G (p.Ile84Val)
|
rs376177995
|
0.00001
|
NM_002834.5(PTPN11):c.*1038G>A
|
rs931986581
|
0.00001
|
NM_002834.5(PTPN11):c.*1332G>A
|
rs886048973
|
0.00001
|
NM_002834.5(PTPN11):c.*1419G>A
|
rs1435419771
|
0.00001
|
NM_002834.5(PTPN11):c.*1520C>T
|
rs953487891
|
0.00001
|
NM_002834.5(PTPN11):c.*2096T>G
|
rs547373116
|
0.00001
|
NM_002834.5(PTPN11):c.*2179C>T
|
rs1269783582
|
0.00001
|
NM_002834.5(PTPN11):c.*2540G>T
|
rs886048978
|
0.00001
|
NM_002834.5(PTPN11):c.*2907A>C
|
rs886048979
|
0.00001
|
NM_002834.5(PTPN11):c.*3300T>C
|
rs886048980
|
0.00001
|
NM_002834.5(PTPN11):c.*474A>G
|
rs1198836111
|
0.00001
|
NM_002834.5(PTPN11):c.*682T>C
|
rs1223950825
|
0.00001
|
NM_002834.5(PTPN11):c.-71C>T
|
rs1463949594
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002880.4(RAF1):c.*410A>G
|
rs1055682241
|
0.00001
|
NM_002880.4(RAF1):c.*73T>A
|
rs932588742
|
0.00001
|
NM_002880.4(RAF1):c.-27+7G>A
|
rs886057916
|
0.00001
|
NM_002880.4(RAF1):c.462C>G (p.Ile154Met)
|
rs367732360
|
0.00001
|
NM_002880.4(RAF1):c.654A>G (p.Arg218=)
|
rs898490426
|
0.00001
|
NM_002880.4(RAF1):c.933C>T (p.Pro311=)
|
rs1553613022
|
0.00001
|
NM_003331.5(TYK2):c.*291T>C
|
rs537387706
|
0.00001
|
NM_003331.5(TYK2):c.1444C>T (p.Arg482Cys)
|
rs146770568
|
0.00001
|
NM_003331.5(TYK2):c.2124G>A (p.Met708Ile)
|
rs201502911
|
0.00001
|
NM_003331.5(TYK2):c.2658G>A (p.Ala886=)
|
rs761205319
|
0.00001
|
NM_003331.5(TYK2):c.328C>T (p.Arg110Trp)
|
rs747918278
|
0.00001
|
NM_003331.5(TYK2):c.3525G>A (p.Lys1175=)
|
rs377283866
|
0.00001
|
NM_003331.5(TYK2):c.370C>T (p.Arg124Cys)
|
rs757581005
|
0.00001
|
NM_003331.5(TYK2):c.602C>T (p.Pro201Leu)
|
rs752615354
|
0.00001
|
NM_003331.5(TYK2):c.661C>T (p.Arg221Trp)
|
rs200858844
|
0.00001
|
NM_003331.5(TYK2):c.829G>A (p.Val277Met)
|
rs148520054
|
0.00001
|
NM_003331.5(TYK2):c.879C>T (p.Ile293=)
|
rs375414145
|
0.00001
|
NM_003664.5(AP3B1):c.*141T>C
|
rs753283084
|
0.00001
|
NM_003664.5(AP3B1):c.*447C>T
|
rs886060768
|
0.00001
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala)
|
rs778281326
|
0.00001
|
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)
|
rs778357787
|
0.00001
|
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val)
|
rs886054309
|
0.00001
|
NM_003721.4(RFXANK):c.540C>T (p.Asp180=)
|
rs576657199
|
0.00001
|
NM_003764.4(STX11):c.*1046C>T
|
rs554838419
|
0.00001
|
NM_003764.4(STX11):c.*1339G>T
|
rs1360434650
|
0.00001
|
NM_003764.4(STX11):c.*2216A>G
|
rs886061153
|
0.00001
|
NM_003764.4(STX11):c.*2378A>G
|
rs1237044934
|
0.00001
|
NM_003764.4(STX11):c.*2517G>A
|
rs1233333938
|
0.00001
|
NM_003764.4(STX11):c.*2709T>C
|
rs141086005
|
0.00001
|
NM_003764.4(STX11):c.*700C>T
|
rs886061143
|
0.00001
|
NM_003764.4(STX11):c.*806A>G
|
rs531723140
|
0.00001
|
NM_003764.4(STX11):c.-140C>T
|
rs886061139
|
0.00001
|
NM_003764.4(STX11):c.570C>T (p.Ser190=)
|
rs148354227
|
0.00001
|
NM_003764.4(STX11):c.634C>T (p.Arg212Cys)
|
rs1279778517
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*420G>C
|
rs1324561922
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*501G>A
|
rs886054091
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*693T>G
|
rs886054095
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*93G>T
|
rs965196006
|
0.00001
|
NM_003839.4(TNFRSF11A):c.-22G>T
|
rs1273385769
|
0.00001
|
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile)
|
rs764498229
|
0.00001
|
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val)
|
rs961173072
|
0.00001
|
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=)
|
rs369418441
|
0.00001
|
NM_003839.4(TNFRSF11A):c.730+6G>C
|
rs554552883
|
0.00001
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile)
|
rs886041107
|
0.00001
|
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln)
|
rs886051493
|
0.00001
|
NM_004333.6(BRAF):c.*124G>C
|
rs1317771158
|
0.00001
|
NM_004333.6(BRAF):c.*3C>T
|
rs746680490
|
0.00001
|
NM_004333.6(BRAF):c.-12C>T
|
rs1390547132
|
0.00001
|
NM_004333.6(BRAF):c.-56C>T
|
rs867823794
|
0.00001
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)
|
rs749247588
|
0.00001
|
NM_004333.6(BRAF):c.981-14C>A
|
rs200002171
|
0.00001
|
NM_004629.1(FANCG):c.-491G>A
|
rs886063901
|
0.00001
|
NM_004629.2(FANCG):c.*101A>G
|
rs751616369
|
0.00001
|
NM_004629.2(FANCG):c.-276G>A
|
rs1445799529
|
0.00001
|
NM_004629.2(FANCG):c.-311T>A
|
rs886063900
|
0.00001
|
NM_004629.2(FANCG):c.-348A>G
|
rs376750755
|
0.00001
|
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)
|
rs1447816480
|
0.00001
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
0.00001
|
NM_004895.4(NLRP3):c.*431G>A
|
rs1296786716
|
0.00001
|
NM_004895.4(NLRP3):c.*604A>C
|
rs1057515532
|
0.00001
|
NM_004985.5(KRAS):c.111+8T>G
|
rs779370636
|
0.00001
|
NM_005045.4(RELN):c.*109G>A
|
rs1162034311
|
0.00001
|
NM_005045.4(RELN):c.-117G>T
|
rs1185334042
|
0.00001
|
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr)
|
rs200058688
|
0.00001
|
NM_005045.4(RELN):c.1893-3C>T
|
rs1214133012
|
0.00001
|
NM_005045.4(RELN):c.340A>G (p.Ile114Val)
|
rs886061863
|
0.00001
|
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu)
|
rs886061856
|
0.00001
|
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp)
|
rs757649565
|
0.00001
|
NM_005045.4(RELN):c.5547T>C (p.Leu1849=)
|
rs766701326
|
0.00001
|
NM_005045.4(RELN):c.5973A>G (p.Glu1991=)
|
rs888620136
|
0.00001
|
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe)
|
rs779142703
|
0.00001
|
NM_005045.4(RELN):c.6830C>T (p.Ala2277Val)
|
rs374796794
|
0.00001
|
NM_005045.4(RELN):c.7093G>A (p.Val2365Met)
|
rs756299161
|
0.00001
|
NM_005045.4(RELN):c.717C>T (p.Ala239=)
|
rs368472328
|
0.00001
|
NM_005045.4(RELN):c.7398G>A (p.Lys2466=)
|
rs376360223
|
0.00001
|
NM_005045.4(RELN):c.7668+13C>T
|
rs751859147
|
0.00001
|
NM_005045.4(RELN):c.7668+3G>T
|
rs748053614
|
0.00001
|
NM_005045.4(RELN):c.7762A>C (p.Asn2588His)
|
rs569919781
|
0.00001
|
NM_005045.4(RELN):c.7974C>T (p.Val2658=)
|
rs1279589989
|
0.00001
|
NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys)
|
rs1554367200
|
0.00001
|
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val)
|
rs142638365
|
0.00001
|
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn)
|
rs770064368
|
0.00001
|
NM_005546.4(ITK):c.*232G>A
|
rs1223249224
|
0.00001
|
NM_005546.4(ITK):c.*664G>A
|
rs886060328
|
0.00001
|
NM_005546.4(ITK):c.*72A>G
|
rs1755168498
|
0.00001
|
NM_005546.4(ITK):c.1060+12A>C
|
rs765303299
|
0.00001
|
NM_005546.4(ITK):c.1762T>C (p.Tyr588His)
|
rs370632752
|
0.00001
|
NM_005546.4(ITK):c.1792-3C>T
|
rs1198022484
|
0.00001
|
NM_005546.4(ITK):c.851+5G>A
|
rs769166363
|
0.00001
|
NM_005546.4(ITK):c.986-10A>G
|
rs757798734
|
0.00001
|
NM_005633.4(SOS1):c.*2218T>A
|
rs886056009
|
0.00001
|
NM_005633.4(SOS1):c.*2497G>A
|
rs886056008
|
0.00001
|
NM_005633.4(SOS1):c.*3041A>C
|
rs1167439482
|
0.00001
|
NM_005633.4(SOS1):c.*4265A>G
|
rs377303107
|
0.00001
|
NM_005633.4(SOS1):c.*544C>T
|
rs886056020
|
0.00001
|
NM_005633.4(SOS1):c.*642T>C
|
rs886056019
|
0.00001
|
NM_005633.4(SOS1):c.1635G>A (p.Gln545=)
|
rs1240207005
|
0.00001
|
NM_005633.4(SOS1):c.2121T>C (p.Asp707=)
|
rs571408451
|
0.00001
|
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)
|
rs587781173
|
0.00001
|
NM_005633.4(SOS1):c.643T>C (p.Tyr215His)
|
rs730881039
|
0.00001
|
NM_005633.4(SOS1):c.675T>G (p.Val225=)
|
rs371482290
|
0.00001
|
NM_005633.4(SOS1):c.865-4T>C
|
rs750788947
|
0.00001
|
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp)
|
rs886045320
|
0.00001
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser)
|
rs759963419
|
0.00001
|
NM_006206.6(PDGFRA):c.*1102T>G
|
rs1577757624
|
0.00001
|
NM_006206.6(PDGFRA):c.*1195A>C
|
rs1219021519
|
0.00001
|
NM_006206.6(PDGFRA):c.*1334G>A
|
rs1278770606
|
0.00001
|
NM_006206.6(PDGFRA):c.*1521C>T
|
rs886059457
|
0.00001
|
NM_006206.6(PDGFRA):c.*1706T>C
|
rs886059458
|
0.00001
|
NM_006206.6(PDGFRA):c.*2475C>T
|
rs886059460
|
0.00001
|
NM_006206.6(PDGFRA):c.*2655A>G
|
rs910994718
|
0.00001
|
NM_006206.6(PDGFRA):c.*2840A>G
|
rs886059462
|
0.00001
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
NM_006432.4(NPC2):c.-89G>A
|
rs574247323
|
0.00001
|
NM_006432.5(NPC2):c.*115C>T
|
rs780515697
|
0.00001
|
NM_006610.4(MASP2):c.1080G>A (p.Ala360=)
|
rs774776055
|
0.00001
|
NM_006610.4(MASP2):c.154C>T (p.Pro52Ser)
|
rs570974459
|
0.00001
|
NM_006610.4(MASP2):c.1972A>G (p.Met658Val)
|
rs1643743988
|
0.00001
|
NM_006610.4(MASP2):c.384G>A (p.Thr128=)
|
rs187107024
|
0.00001
|
NM_006610.4(MASP2):c.420C>T (p.Asp140=)
|
rs760062530
|
0.00001
|
NM_006610.4(MASP2):c.507A>G (p.Ala169=)
|
rs201972294
|
0.00001
|
NM_006610.4(MASP2):c.626C>T (p.Ser209Phe)
|
rs748760302
|
0.00001
|
NM_006610.4(MASP2):c.967A>C (p.Ser323Arg)
|
rs771074354
|
0.00001
|
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=)
|
rs750608792
|
0.00001
|
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr)
|
rs759856421
|
0.00001
|
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
|
rs1431258015
|
0.00001
|
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
|
rs1212563023
|
0.00001
|
NM_006846.4(SPINK5):c.2964+14T>G
|
rs1017737800
|
0.00001
|
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=)
|
rs571812048
|
0.00001
|
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
|
rs757745500
|
0.00001
|
NM_006929.4(SKIC2):c.-43T>C
|
rs886061303
|
0.00001
|
NM_006929.5(SKIC2):c.120G>A (p.Glu40=)
|
rs886061305
|
0.00001
|
NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe)
|
rs761742617
|
0.00001
|
NM_006929.5(SKIC2):c.1965G>C (p.Leu655=)
|
rs765798583
|
0.00001
|
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln)
|
rs768031925
|
0.00001
|
NM_006929.5(SKIC2):c.2340+13G>A
|
rs777138745
|
0.00001
|
NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu)
|
rs1244150559
|
0.00001
|
NM_006929.5(SKIC2):c.2703C>T (p.Leu901=)
|
rs748012447
|
0.00001
|
NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=)
|
rs374744199
|
0.00001
|
NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp)
|
rs780107431
|
0.00001
|
NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys)
|
rs553733225
|
0.00001
|
NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=)
|
rs565424838
|
0.00001
|
NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr)
|
rs1338384643
|
0.00001
|
NM_006929.5(SKIC2):c.422C>T (p.Ala141Val)
|
rs146543642
|
0.00001
|
NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser)
|
rs565958554
|
0.00001
|
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg)
|
rs772587016
|
0.00001
|
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr)
|
rs1886005182
|
0.00001
|
NM_006947.4(SRP72):c.*227G>A
|
rs879875987
|
0.00001
|
NM_006947.4(SRP72):c.*473G>A
|
rs1020026480
|
0.00001
|
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
|
rs752240949
|
0.00001
|
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
|
rs1719782337
|
0.00001
|
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)
|
rs763655714
|
0.00001
|
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=)
|
rs771186417
|
0.00001
|
NM_006949.4(STXBP2):c.169+11G>C
|
rs756350869
|
0.00001
|
NM_006949.4(STXBP2):c.575G>A (p.Arg192His)
|
rs113860815
|
0.00001
|
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr)
|
rs774890011
|
0.00001
|
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys)
|
rs372973081
|
0.00001
|
NM_012092.4(ICOS):c.*1269A>C
|
rs1430869619
|
0.00001
|
NM_012092.4(ICOS):c.*1457A>G
|
rs749858926
|
0.00001
|
NM_012092.4(ICOS):c.*931A>G
|
rs886055497
|
0.00001
|
NM_012275.3(IL36RN):c.*1244A>G
|
rs1685693942
|
0.00001
|
NM_012275.3(IL36RN):c.*1258C>A
|
rs147788845
|
0.00001
|
NM_012275.3(IL36RN):c.*1585A>G
|
rs886054771
|
0.00001
|
NM_012275.3(IL36RN):c.*1891G>A
|
rs1330509196
|
0.00001
|
NM_012275.3(IL36RN):c.*426G>T
|
rs1165763738
|
0.00001
|
NM_012275.3(IL36RN):c.-28+1G>A
|
rs1440056356
|
0.00001
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
NM_014140.3(SMARCAL1):c.-300G>C
|
rs549159106
|
0.00001
|
NM_014140.4(SMARCAL1):c.-170C>T
|
rs886055614
|
0.00001
|
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)
|
rs752241342
|
0.00001
|
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
|
rs1322248626
|
0.00001
|
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys)
|
rs886055616
|
0.00001
|
NM_014339.7(IL17RA):c.*1090G>C
|
rs886057214
|
0.00001
|
NM_014339.7(IL17RA):c.*1431A>G
|
rs886057217
|
0.00001
|
NM_014339.7(IL17RA):c.*2963C>T
|
rs886057224
|
0.00001
|
NM_014339.7(IL17RA):c.*3071A>G
|
rs759654015
|
0.00001
|
NM_014339.7(IL17RA):c.*3617T>C
|
rs1054721085
|
0.00001
|
NM_014339.7(IL17RA):c.*3734C>T
|
rs768197387
|
0.00001
|
NM_014339.7(IL17RA):c.*3837C>G
|
rs886057232
|
0.00001
|
NM_014339.7(IL17RA):c.*414A>G
|
rs886057208
|
0.00001
|
NM_014339.7(IL17RA):c.*4798C>T
|
rs1478354859
|
0.00001
|
NM_014339.7(IL17RA):c.*4878G>C
|
rs1285493774
|
0.00001
|
NM_014339.7(IL17RA):c.*5117G>A
|
rs1225025974
|
0.00001
|
NM_014339.7(IL17RA):c.*5164C>T
|
rs754485568
|
0.00001
|
NM_014339.7(IL17RA):c.*5480T>A
|
rs556640863
|
0.00001
|
NM_014339.7(IL17RA):c.*5660G>A
|
rs1226203860
|
0.00001
|
NM_014339.7(IL17RA):c.*5797A>C
|
rs1468149711
|
0.00001
|
NM_014339.7(IL17RA):c.*626C>T
|
rs972148608
|
0.00001
|
NM_014339.7(IL17RA):c.*832G>T
|
rs1382022057
|
0.00001
|
NM_014339.7(IL17RA):c.1045+7G>A
|
rs572837622
|
0.00001
|
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)
|
rs781731675
|
0.00001
|
NM_014339.7(IL17RA):c.1414G>A (p.Gly472Arg)
|
rs765188580
|
0.00001
|
NM_014339.7(IL17RA):c.1656G>A (p.Glu552=)
|
rs746697957
|
0.00001
|
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)
|
rs559058243
|
0.00001
|
NM_014339.7(IL17RA):c.199A>G (p.Asn67Asp)
|
rs886057201
|
0.00001
|
NM_014339.7(IL17RA):c.2178G>T (p.Ser726=)
|
rs1261613548
|
0.00001
|
NM_014339.7(IL17RA):c.220A>G (p.Lys74Glu)
|
rs752964419
|
0.00001
|
NM_014339.7(IL17RA):c.2245G>A (p.Glu749Lys)
|
rs779004550
|
0.00001
|
NM_014339.7(IL17RA):c.354G>A (p.Gln118=)
|
rs762177800
|
0.00001
|
NM_014339.7(IL17RA):c.36G>T (p.Pro12=)
|
rs886057200
|
0.00001
|
NM_014339.7(IL17RA):c.422G>A (p.Arg141Gln)
|
rs746193437
|
0.00001
|
NM_014339.7(IL17RA):c.813C>A (p.Arg271=)
|
rs763313591
|
0.00001
|
NM_015474.4(SAMHD1):c.*104G>C
|
rs570535296
|
0.00001
|
NM_015474.4(SAMHD1):c.*648C>T
|
rs1414917474
|
0.00001
|
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)
|
rs962672070
|
0.00001
|
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)
|
rs1451618642
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)
|
rs767413799
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_016123.4(IRAK4):c.*1028T>C
|
rs886049390
|
0.00001
|
NM_016123.4(IRAK4):c.*512G>C
|
rs1243163221
|
0.00001
|
NM_016123.4(IRAK4):c.-75C>T
|
rs886049382
|
0.00001
|
NM_016123.4(IRAK4):c.103T>A (p.Leu35Ile)
|
rs1423382149
|
0.00001
|
NM_016123.4(IRAK4):c.526G>T (p.Val176Phe)
|
rs886049385
|
0.00001
|
NM_016123.4(IRAK4):c.713C>T (p.Ala238Val)
|
rs886049386
|
0.00001
|
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
|
rs369876807
|
0.00001
|
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
|
rs1685420223
|
0.00001
|
NM_018344.6(SLC29A3):c.*111A>G
|
rs768698488
|
0.00001
|
NM_018344.6(SLC29A3):c.*220A>G
|
rs753584878
|
0.00001
|
NM_018344.6(SLC29A3):c.*485G>A
|
rs886047118
|
0.00001
|
NM_018344.6(SLC29A3):c.*557A>C
|
rs886047119
|
0.00001
|
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)
|
rs374417695
|
0.00001
|
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp)
|
rs1013295413
|
0.00001
|
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)
|
rs757865136
|
0.00001
|
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val)
|
rs142991278
|
0.00001
|
NM_018344.6(SLC29A3):c.804T>C (p.His268=)
|
rs896755457
|
0.00001
|
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn)
|
rs556688985
|
0.00001
|
NM_018389.5(SLC35C1):c.*1419A>G
|
rs2085964667
|
0.00001
|
NM_018389.5(SLC35C1):c.*1543C>G
|
rs766558309
|
0.00001
|
NM_018389.5(SLC35C1):c.*1647T>C
|
rs886048323
|
0.00001
|
NM_018389.5(SLC35C1):c.*542A>T
|
rs538005835
|
0.00001
|
NM_018389.5(SLC35C1):c.*650C>A
|
rs780018107
|
0.00001
|
NM_018389.5(SLC35C1):c.*72G>A
|
rs528884213
|
0.00001
|
NM_018389.5(SLC35C1):c.-287C>G
|
rs974599944
|
0.00001
|
NM_018389.5(SLC35C1):c.-312T>C
|
rs886048312
|
0.00001
|
NM_018389.5(SLC35C1):c.-393C>T
|
rs886048311
|
0.00001
|
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile)
|
rs768592798
|
0.00001
|
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly)
|
rs759504632
|
0.00001
|
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala)
|
rs769916550
|
0.00001
|
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His)
|
rs886048314
|
0.00001
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met)
|
rs748793953
|
0.00001
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
NM_020661.4(AICDA):c.*1025G>A
|
rs1941216576
|
0.00001
|
NM_020661.4(AICDA):c.-87A>T
|
rs1941389378
|
0.00001
|
NM_020661.4(AICDA):c.29A>G (p.Lys10Arg)
|
rs768249578
|
0.00001
|
NM_021922.3(FANCE):c.*401G>C
|
rs886061333
|
0.00001
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
|
rs748817910
|
0.00001
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
NM_022051.2(EGLN1):c.-1159T>C
|
rs1273579470
|
0.00001
|
NM_022051.2(EGLN1):c.-1305A>C
|
rs1656707976
|
0.00001
|
NM_022051.2(EGLN1):c.-2340A>G
|
rs886046130
|
0.00001
|
NM_022051.2(EGLN1):c.-2567C>T
|
rs193048016
|
0.00001
|
NM_022051.2(EGLN1):c.-2695A>G
|
rs886046132
|
0.00001
|
NM_022051.2(EGLN1):c.-2762C>T
|
rs886046133
|
0.00001
|
NM_022051.2(EGLN1):c.-2767G>A
|
rs886046134
|
0.00001
|
NM_022051.2(EGLN1):c.-565C>A
|
rs886046120
|
0.00001
|
NM_022051.2(EGLN1):c.-694C>T
|
rs886046122
|
0.00001
|
NM_022051.2(EGLN1):c.-720C>T
|
rs886046123
|
0.00001
|
NM_022051.2(EGLN1):c.-766T>C
|
rs1656688727
|
0.00001
|
NM_022051.2(EGLN1):c.-797C>G
|
rs886046124
|
0.00001
|
NM_022051.3(EGLN1):c.*1326T>C
|
rs1315144793
|
0.00001
|
NM_022051.3(EGLN1):c.*2491C>T
|
rs1333130258
|
0.00001
|
NM_022051.3(EGLN1):c.*650A>T
|
rs1489752896
|
0.00001
|
NM_022051.3(EGLN1):c.*796C>A
|
rs886046103
|
0.00001
|
NM_022051.3(EGLN1):c.*798C>T
|
rs886046102
|
0.00001
|
NM_022051.3(EGLN1):c.*944C>T
|
rs886046101
|
0.00001
|
NM_022051.3(EGLN1):c.-140C>T
|
rs886046114
|
0.00001
|
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)
|
rs1442046271
|
0.00001
|
NM_022725.4(FANCF):c.*1190C>A
|
rs750376328
|
0.00001
|
NM_022725.4(FANCF):c.*1632G>C
|
rs886048150
|
0.00001
|
NM_022725.4(FANCF):c.*328C>T
|
rs964106425
|
0.00001
|
NM_022725.4(FANCF):c.*565A>G
|
rs886048155
|
0.00001
|
NM_022725.4(FANCF):c.*782A>G
|
rs949488113
|
0.00001
|
NM_022725.4(FANCF):c.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
NM_024570.4(RNASEH2B):c.*12T>C
|
rs773052815
|
0.00001
|
NM_024570.4(RNASEH2B):c.*159A>G
|
rs886050292
|
0.00001
|
NM_024570.4(RNASEH2B):c.*249T>C
|
rs886050293
|
0.00001
|
NM_024570.4(RNASEH2B):c.*29A>G
|
rs1200577478
|
0.00001
|
NM_024570.4(RNASEH2B):c.-181G>A
|
rs886050288
|
0.00001
|
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser)
|
rs762281569
|
0.00001
|
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg)
|
rs767086382
|
0.00001
|
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala)
|
rs1363075189
|
0.00001
|
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu)
|
rs746153565
|
0.00001
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr)
|
rs542600186
|
0.00001
|
NM_024675.4(PALB2):c.-149G>A
|
rs886051832
|
0.00001
|
NM_024675.4(PALB2):c.-37C>T
|
rs1403573232
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
NM_032043.3(BRIP1):c.*1239C>A
|
rs1042958451
|
0.00001
|
NM_032043.3(BRIP1):c.*1908T>C
|
rs1264916802
|
0.00001
|
NM_032043.3(BRIP1):c.*2522A>G
|
rs886053207
|
0.00001
|
NM_032043.3(BRIP1):c.*339G>C
|
rs886053212
|
0.00001
|
NM_032043.3(BRIP1):c.*3580T>A
|
rs372023591
|
0.00001
|
NM_032043.3(BRIP1):c.*3617T>C
|
rs886053198
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032193.4(RNASEH2C):c.*178C>G
|
rs3180585
|
0.00001
|
NM_032193.4(RNASEH2C):c.*27C>G
|
rs886048500
|
0.00001
|
NM_032193.4(RNASEH2C):c.*374T>G
|
rs533143132
|
0.00001
|
NM_032193.4(RNASEH2C):c.*719T>G
|
rs886048492
|
0.00001
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn)
|
rs781376271
|
0.00001
|
NM_032444.4(SLX4):c.*1047G>A
|
rs1485693438
|
0.00001
|
NM_032444.4(SLX4):c.*1150G>C
|
rs886051972
|
0.00001
|
NM_032444.4(SLX4):c.*73G>A
|
rs1461608259
|
0.00001
|
NM_032444.4(SLX4):c.*811G>C
|
rs371879504
|
0.00001
|
NM_032444.4(SLX4):c.*871A>G
|
rs886051974
|
0.00001
|
NM_032444.4(SLX4):c.*957C>T
|
rs886051973
|
0.00001
|
NM_032444.4(SLX4):c.-112C>A
|
rs779687936
|
0.00001
|
NM_032444.4(SLX4):c.-205G>A
|
rs937724885
|
0.00001
|
NM_032444.4(SLX4):c.-616C>T
|
rs886051988
|
0.00001
|
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
0.00001
|
NM_032444.4(SLX4):c.1324A>C (p.Arg442=)
|
rs886051980
|
0.00001
|
NM_032444.4(SLX4):c.13G>A (p.Val5Met)
|
rs750091754
|
0.00001
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
|
rs2040629635
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=)
|
rs746254787
|
0.00001
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg)
|
rs200507644
|
0.00001
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu)
|
rs530123827
|
0.00001
|
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
NM_032638.5(GATA2):c.*101G>A
|
rs886057926
|
0.00001
|
NM_032638.5(GATA2):c.*379C>T
|
rs1324129609
|
0.00001
|
NM_032638.5(GATA2):c.*420G>A
|
rs557984557
|
0.00001
|
NM_032638.5(GATA2):c.*84A>G
|
rs886057927
|
0.00001
|
NM_032638.5(GATA2):c.-114C>T
|
rs1283698608
|
0.00001
|
NM_032638.5(GATA2):c.1023C>T (p.Ala341=)
|
rs376360090
|
0.00001
|
NM_032638.5(GATA2):c.1230G>T (p.Gly410=)
|
rs1461907039
|
0.00001
|
NM_032638.5(GATA2):c.1326C>T (p.His442=)
|
rs886057929
|
0.00001
|
NM_032638.5(GATA2):c.204G>T (p.Ala68=)
|
rs886057932
|
0.00001
|
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala)
|
rs886057931
|
0.00001
|
NM_032638.5(GATA2):c.999C>T (p.Ile333=)
|
rs886072363
|
0.00001
|
NM_032977.4(CASP10):c.*1038C>T
|
rs886055412
|
0.00001
|
NM_032977.4(CASP10):c.*1395G>A
|
rs747068686
|
0.00001
|
NM_032977.4(CASP10):c.*333C>T
|
rs886055407
|
0.00001
|
NM_032977.4(CASP10):c.*3473T>G
|
rs886055430
|
0.00001
|
NM_032977.4(CASP10):c.*657G>C
|
rs886055408
|
0.00001
|
NM_032977.4(CASP10):c.*732T>A
|
rs886055409
|
0.00001
|
NM_032977.4(CASP10):c.*740T>G
|
rs1657316373
|
0.00001
|
NM_032977.4(CASP10):c.*905C>T
|
rs886055411
|
0.00001
|
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg)
|
rs1233007817
|
0.00001
|
NM_032977.4(CASP10):c.442-14T>G
|
rs755555484
|
0.00001
|
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala)
|
rs371962581
|
0.00001
|
NM_032977.4(CASP10):c.81T>C (p.Ile27=)
|
rs751728796
|
0.00001
|
NM_033360.4(KRAS):c.*1326C>T
|
rs574966178
|
0.00001
|
NM_033360.4(KRAS):c.*1777A>G
|
rs886049193
|
0.00001
|
NM_033360.4(KRAS):c.*2360A>G
|
rs886049189
|
0.00001
|
NM_033360.4(KRAS):c.*4195G>A
|
rs886049177
|
0.00001
|
NM_033360.4(KRAS):c.*4643G>A
|
rs886049176
|
0.00001
|
NM_033629.6(TREX1):c.418A>G (p.Met140Val)
|
rs761526437
|
0.00001
|
NM_033629.6(TREX1):c.846A>G (p.Leu282=)
|
rs374232562
|
0.00001
|
NM_033629.6(TREX1):c.9G>A (p.Ser3=)
|
rs762687506
|
0.00001
|
NM_052872.4(IL17F):c.200G>A (p.Arg67His)
|
rs1235526621
|
0.00001
|
NM_052872.4(IL17F):c.469C>T (p.Pro157Ser)
|
rs144576902
|
0.00001
|
NM_052945.4(TNFRSF13C):c.165G>A (p.Thr55=)
|
rs886057590
|
0.00001
|
NM_052945.4(TNFRSF13C):c.288G>A (p.Val96=)
|
rs755167957
|
0.00001
|
NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val)
|
rs886057588
|
0.00001
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
NM_080424.4(SP110):c.*203A>T
|
rs79681285
|
0.00001
|
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg)
|
rs751347896
|
0.00001
|
NM_080424.4(SP110):c.1591-6T>G
|
rs200317062
|
0.00001
|
NM_080424.4(SP110):c.1905G>C (p.Glu635Asp)
|
rs199635684
|
0.00001
|
NM_080424.4(SP110):c.1928T>G (p.Leu643Trp)
|
rs199752332
|
0.00001
|
NM_080424.4(SP110):c.550C>T (p.Pro184Ser)
|
rs750052870
|
0.00001
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
NM_080424.4(SP110):c.829+10G>A
|
rs759280256
|
0.00001
|
NM_080424.4(SP110):c.900G>A (p.Gly300=)
|
rs886055765
|
0.00001
|
NM_080911.3(UNG):c.*2C>A
|
rs767818599
|
0.00001
|
NM_080911.3(UNG):c.*655A>C
|
rs775022596
|
0.00001
|
NM_080911.3(UNG):c.-73C>T
|
rs886048904
|
0.00001
|
NM_080911.3(UNG):c.231C>G (p.Asn77Lys)
|
rs762261195
|
0.00001
|
NM_080911.3(UNG):c.623-9T>A
|
rs745983593
|
0.00001
|
NM_080911.3(UNG):c.65C>T (p.Pro22Leu)
|
rs373668102
|
0.00001
|
NM_080911.3(UNG):c.6C>A (p.Ile2=)
|
rs886048905
|
0.00001
|
NM_080911.3(UNG):c.812A>G (p.His271Arg)
|
rs147460908
|
0.00001
|
NM_080911.3(UNG):c.86A>C (p.Gln29Pro)
|
rs765512122
|
0.00001
|
NM_133459.4(CCBE1):c.*160A>G
|
rs770290457
|
0.00001
|
NM_133459.4(CCBE1):c.*194A>G
|
rs886054073
|
0.00001
|
NM_133459.4(CCBE1):c.*2912G>T
|
rs559362654
|
0.00001
|
NM_133459.4(CCBE1):c.*3147T>C
|
rs1473839692
|
0.00001
|
NM_133459.4(CCBE1):c.*3801G>A
|
rs1909965307
|
0.00001
|
NM_133459.4(CCBE1):c.*4738G>A
|
rs1004161493
|
0.00001
|
NM_133459.4(CCBE1):c.*4755A>C
|
rs938648058
|
0.00001
|
NM_133459.4(CCBE1):c.*4877C>G
|
rs139842926
|
0.00001
|
NM_133459.4(CCBE1):c.*752T>C
|
rs886054068
|
0.00001
|
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=)
|
rs765502530
|
0.00001
|
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro)
|
rs755044198
|
0.00001
|
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala)
|
rs766519876
|
0.00001
|
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val)
|
rs776814391
|
0.00001
|
NM_138387.4(G6PC3):c.-149G>A
|
rs1567967341
|
0.00001
|
NM_138387.4(G6PC3):c.-48G>A
|
rs746461072
|
0.00001
|
NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=)
|
rs782315134
|
0.00001
|
NM_139027.6(ADAMTS13):c.1706-4C>T
|
rs967189107
|
0.00001
|
NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)
|
rs781945326
|
0.00001
|
NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys)
|
rs782659882
|
0.00001
|
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)
|
rs367627378
|
0.00001
|
NM_139027.6(ADAMTS13):c.2732-8C>T
|
rs886063634
|
0.00001
|
NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala)
|
rs978677428
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+136T>A
|
rs782166349
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+17G>T
|
rs782724202
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+19C>T
|
rs781785040
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+32C>T
|
rs1554795505
|
0.00001
|
NM_139027.6(ADAMTS13):c.3941C>T (p.Ala1314Val)
|
rs782145338
|
0.00001
|
NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)
|
rs1393965473
|
0.00001
|
NM_139276.3(STAT3):c.*1011A>G
|
rs1321545484
|
0.00001
|
NM_139276.3(STAT3):c.*594G>A
|
rs1405453923
|
0.00001
|
NM_139276.3(STAT3):c.-162A>G
|
rs886052945
|
0.00001
|
NM_139276.3(STAT3):c.-55C>G
|
rs886052944
|
0.00001
|
NM_139276.3(STAT3):c.1050G>A (p.Arg350=)
|
rs771738153
|
0.00001
|
NM_139276.3(STAT3):c.657T>C (p.Ser219=)
|
rs886052943
|
0.00001
|
NM_144687.3(NLRP12):c.*343A>G
|
rs540448720
|
0.00001
|
NM_144687.4(NLRP12):c.*290A>C
|
rs886054605
|
0.00001
|
NM_144687.4(NLRP12):c.1152G>A (p.Ala384=)
|
rs776027340
|
0.00001
|
NM_144687.4(NLRP12):c.2244-14C>T
|
rs866055657
|
0.00001
|
NM_144687.4(NLRP12):c.2928-4C>G
|
rs980154436
|
0.00001
|
NM_144687.4(NLRP12):c.2998T>G (p.Leu1000Val)
|
rs1219838859
|
0.00001
|
NM_144687.4(NLRP12):c.456C>A (p.Asn152Lys)
|
rs374197946
|
0.00001
|
NM_144687.4(NLRP12):c.641T>C (p.Val214Ala)
|
rs886054610
|
0.00001
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
NM_148919.4(PSMB8):c.*178G>A
|
rs886061309
|
0.00001
|
NM_148919.4(PSMB8):c.*57C>T
|
rs1371496516
|
0.00001
|
NM_148919.4(PSMB8):c.180C>T (p.Asp60=)
|
rs757858465
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_152564.5(VPS13B):c.*1037C>A
|
rs1246944981
|
0.00001
|
NM_152564.5(VPS13B):c.*1239C>T
|
rs1817725052
|
0.00001
|
NM_152564.5(VPS13B):c.*438C>T
|
rs1412435648
|
0.00001
|
NM_152564.5(VPS13B):c.*665T>C
|
rs1326591170
|
0.00001
|
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn)
|
rs759636784
|
0.00001
|
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu)
|
rs368041601
|
0.00001
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)
|
rs761972356
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His)
|
rs748531719
|
0.00001
|
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile)
|
rs752506829
|
0.00001
|
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp)
|
rs886062536
|
0.00001
|
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His)
|
rs756072319
|
0.00001
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln)
|
rs1279523650
|
0.00001
|
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser)
|
rs757950339
|
0.00001
|
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile)
|
rs770669224
|
0.00001
|
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val)
|
rs187596259
|
0.00001
|
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr)
|
rs146540735
|
0.00001
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)
|
rs770738729
|
0.00001
|
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro)
|
rs1366756885
|
0.00001
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr)
|
rs747340772
|
0.00001
|
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe)
|
rs1001219779
|
0.00001
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg)
|
rs778935189
|
0.00001
|
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val)
|
rs1451188144
|
0.00001
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg)
|
rs760112876
|
0.00001
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met)
|
rs1297641779
|
0.00001
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)
|
rs756531043
|
0.00001
|
NM_172351.3(CD46):c.*1146G>C
|
rs914566029
|
0.00001
|
NM_172351.3(CD46):c.*1613C>T
|
rs908893859
|
0.00001
|
NM_172351.3(CD46):c.*1888C>T
|
rs886045846
|
0.00001
|
NM_172351.3(CD46):c.*1963C>T
|
rs886045847
|
0.00001
|
NM_172351.3(CD46):c.*920A>G
|
rs886045841
|
0.00001
|
NM_172351.3(CD46):c.-10C>T
|
rs931567100
|
0.00001
|
NM_172351.3(CD46):c.1018+7A>G
|
rs771467005
|
0.00001
|
NM_172351.3(CD46):c.118A>G (p.Thr40Ala)
|
rs753924720
|
0.00001
|
NM_172351.3(CD46):c.586G>C (p.Gly196Arg)
|
rs1656188708
|
0.00001
|
NM_172351.3(CD46):c.857-185T>C
|
rs376519984
|
0.00001
|
NM_172351.3(CD46):c.860C>T (p.Ser287Leu)
|
rs751860518
|
0.00001
|
NM_172351.3(CD46):c.901+9A>G
|
rs370112627
|
0.00001
|
NM_173842.3(IL1RN):c.*1040G>A
|
rs886054777
|
0.00001
|
NM_173842.3(IL1RN):c.*130C>T
|
rs541642811
|
0.00001
|
NM_173842.3(IL1RN):c.*165C>T
|
rs886054773
|
0.00001
|
NM_173842.3(IL1RN):c.*245G>A
|
rs886054774
|
0.00001
|
NM_173842.3(IL1RN):c.*601C>G
|
rs572782935
|
0.00001
|
NM_182746.3(MCM4):c.-48G>T
|
rs886062972
|
0.00001
|
NM_182746.3(MCM4):c.159C>T (p.Thr53=)
|
rs775056163
|
0.00001
|
NM_182746.3(MCM4):c.187G>T (p.Ala63Ser)
|
rs886062974
|
0.00001
|
NM_182746.3(MCM4):c.199G>A (p.Val67Met)
|
rs755044869
|
0.00001
|
NM_182746.3(MCM4):c.2296C>T (p.Arg766Trp)
|
rs149597772
|
0.00001
|
NM_182746.3(MCM4):c.241C>T (p.Pro81Ser)
|
rs886062975
|
0.00001
|
NM_182746.3(MCM4):c.253G>T (p.Asp85Tyr)
|
rs760802348
|
0.00001
|
NM_182746.3(MCM4):c.440G>A (p.Gly147Asp)
|
rs886062976
|
0.00001
|
NM_182746.3(MCM4):c.589C>T (p.Leu197Phe)
|
rs1349008800
|
0.00001
|
NM_182746.3(MCM4):c.693+7A>G
|
rs755216810
|
0.00001
|
NM_182746.3(MCM4):c.715A>G (p.Met239Val)
|
rs752863422
|
0.00001
|
NM_182746.3(MCM4):c.940C>T (p.Arg314Trp)
|
rs750729954
|
0.00001
|
NM_182746.3(MCM4):c.99C>T (p.Pro33=)
|
rs199890906
|
0.00001
|
NM_183235.3(RAB27A):c.*1598A>G
|
rs565137216
|
0.00001
|
NM_183235.3(RAB27A):c.*1915A>T
|
rs1192254377
|
0.00001
|
NM_183235.3(RAB27A):c.*2031C>T
|
rs1300772256
|
0.00001
|
NM_183235.3(RAB27A):c.*730T>C
|
rs886051310
|
0.00001
|
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg)
|
rs746081723
|
0.00001
|
NM_199242.2(UNC13D):c.-115C>T
|
rs886053425
|
0.00001
|
NM_199242.2(UNC13D):c.-158C>T
|
rs886053426
|
0.00001
|
NM_199242.2(UNC13D):c.-328G>A
|
rs867915391
|
0.00001
|
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)
|
rs111728477
|
0.00001
|
NM_199242.3(UNC13D):c.2197G>A (p.Glu733Lys)
|
rs1469229658
|
0.00001
|
NM_199242.3(UNC13D):c.23C>T (p.Pro8Leu)
|
rs766811197
|
0.00001
|
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln)
|
rs143944122
|
0.00001
|
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg)
|
rs776703437
|
0.00001
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
NM_199242.3(UNC13D):c.511C>T (p.His171Tyr)
|
rs752856512
|
0.00001
|
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe)
|
rs757125102
|
0.00001
|
NM_199242.3(UNC13D):c.977C>T (p.Ser326Leu)
|
rs762385167
|
0.00001
|
NM_203447.4(DOCK8):c.*603T>C
|
rs886063984
|
0.00001
|
NM_203447.4(DOCK8):c.-100T>A
|
rs886063778
|
0.00001
|
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn)
|
rs374938180
|
0.00001
|
NM_203447.4(DOCK8):c.156+7A>G
|
rs991177118
|
0.00001
|
NM_203447.4(DOCK8):c.1649G>A (p.Arg550Gln)
|
rs886063879
|
0.00001
|
NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala)
|
rs764950936
|
0.00001
|
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr)
|
rs1407788035
|
0.00001
|
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val)
|
rs886063779
|
0.00001
|
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys)
|
rs764918764
|
0.00001
|
NM_203447.4(DOCK8):c.447A>G (p.Gly149=)
|
rs763034264
|
0.00001
|
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=)
|
rs886063957
|
0.00001
|
NM_203447.4(DOCK8):c.4785+8G>A
|
rs759399965
|
0.00001
|
NM_203447.4(DOCK8):c.492G>C (p.Glu164Asp)
|
rs772188486
|
0.00001
|
NM_203447.4(DOCK8):c.5221A>G (p.Thr1741Ala)
|
rs943721536
|
0.00001
|
NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln)
|
rs751622919
|
0.00001
|
NM_203447.4(DOCK8):c.529-10T>C
|
rs757276569
|
0.00001
|
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser)
|
rs766493394
|
0.00001
|
NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=)
|
rs182402358
|
0.00001
|
NM_203447.4(DOCK8):c.828-15C>G
|
rs773615177
|
0.00001
|
NM_206937.2(LIG4):c.*56G>C
|
rs886049947
|
0.00001
|
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)
|
rs535025599
|
0.00001
|
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe)
|
rs144322912
|
0.00001
|
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
|
rs1342090676
|
0.00001
|
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe)
|
rs3742212
|
0.00001
|
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
|
rs201289944
|
0.00001
|
NC_000013.11:g.32315487G>T
|
rs1036870835
|
|
NM_000022.4(ADA):c.*152C>T
|
rs560858565
|
|
NM_000022.4(ADA):c.-10C>G
|
rs886056709
|
|
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
|
rs2065409743
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
NM_000022.4(ADA):c.446G>T (p.Arg149Leu)
|
rs121908737
|
|
NM_000022.4(ADA):c.594C>T (p.Val198=)
|
rs886056708
|
|
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
|
rs775436011
|
|
NM_000043.6(FAS):c.*1153A>T
|
rs986613204
|
|
NM_000043.6(FAS):c.*119C>T
|
rs1848699181
|
|
NM_000043.6(FAS):c.*566C>G
|
rs886047463
|
|
NM_000043.6(FAS):c.*586G>A
|
rs1848730964
|
|
NM_000043.6(FAS):c.*88T>C
|
rs886047461
|
|
NM_000043.6(FAS):c.30+6C>T
|
rs1847139427
|
|
NM_000043.6(FAS):c.31-9A>G
|
rs886047458
|
|
NM_000043.6(FAS):c.432C>T (p.Asp144=)
|
rs574338716
|
|
NM_000043.6(FAS):c.444-5del
|
rs751798922
|
|
NM_000043.6(FAS):c.652-12T>A
|
rs1214604414
|
|
NM_000043.6(FAS):c.676+12A>C
|
rs777843173
|
|
NM_000043.6(FAS):c.84T>C (p.Thr28=)
|
rs1848023281
|
|
NM_000051.3(ATM):c.-222T>A
|
rs557953523
|
|
NM_000051.3(ATM):c.-235delC
|
rs886047607
|
|
NM_000051.4(ATM):c.*1204C>G
|
rs2091350922
|
|
NM_000051.4(ATM):c.*1407G>A
|
rs2091360907
|
|
NM_000051.4(ATM):c.*1431C>A
|
rs2091362279
|
|
NM_000051.4(ATM):c.*1960del
|
rs886047624
|
|
NM_000051.4(ATM):c.*238G>C
|
rs2091280654
|
|
NM_000051.4(ATM):c.*2541_*2543del
|
rs886047625
|
|
NM_000051.4(ATM):c.*2714dup
|
rs532373195
|
|
NM_000051.4(ATM):c.*2779del
|
rs886047627
|
|
NM_000051.4(ATM):c.*2824G>A
|
rs2091439619
|
|
NM_000051.4(ATM):c.*2865G>A
|
rs568150944
|
|
NM_000051.4(ATM):c.*2926T>C
|
rs2091445014
|
|
NM_000051.4(ATM):c.*2935C>G
|
rs886047628
|
|
NM_000051.4(ATM):c.*306C>G
|
rs2091287759
|
|
NM_000051.4(ATM):c.*3354T>G
|
rs886047631
|
|
NM_000051.4(ATM):c.*3386T>A
|
rs754664818
|
|
NM_000051.4(ATM):c.*537A>C
|
rs910689990
|
|
NM_000051.4(ATM):c.*540dup
|
rs369583811
|
|
NM_000051.4(ATM):c.*541_*542del
|
rs886047618
|
|
NM_000051.4(ATM):c.*541del
|
rs886047619
|
|
NM_000051.4(ATM):c.*627A>G
|
rs1014149927
|
|
NM_000051.4(ATM):c.*795C>T
|
rs2091326775
|
|
NM_000051.4(ATM):c.*895dup
|
rs200629108
|
|
NM_000051.4(ATM):c.-74G>A
|
rs3205808
|
|
NM_000051.4(ATM):c.1360T>C (p.Tyr454His)
|
rs1555070814
|
|
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)
|
rs864622515
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys)
|
rs764409952
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.3077+4G>T
|
rs201222237
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.4503T>C (p.Val1501=)
|
rs2082863480
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5762+8A>C
|
rs2083824504
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp)
|
rs1383763069
|
|
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)
|
rs730881315
|
|
NM_000051.4(ATM):c.7846A>G (p.Met2616Val)
|
rs876658208
|
|
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys)
|
rs876659351
|
|
NM_000051.4(ATM):c.834C>G (p.Val278=)
|
rs2079769316
|
|
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu)
|
rs886047614
|
|
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)
|
rs863224582
|
|
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)
|
rs886047610
|
|
NM_000059.3(BRCA2):c.-210A>G
|
rs886050111
|
|
NM_000059.4(BRCA2):c.*292A>C
|
rs886050112
|
|
NM_000059.4(BRCA2):c.*360dup
|
rs886050114
|
|
NM_000059.4(BRCA2):c.*399T>C
|
rs886050115
|
|
NM_000059.4(BRCA2):c.*416G>T
|
rs886050116
|
|
NM_000059.4(BRCA2):c.*675C>A
|
rs886050117
|
|
NM_000059.4(BRCA2):c.*696G>A
|
rs886050118
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
|
rs1593892275
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
rs768169574
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
|
rs2072286770
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)
|
rs864622476
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)
|
rs747903103
|
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
rs876660471
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)
|
rs770664957
|
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
rs80358781
|
|
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)
|
rs1401654517
|
|
NM_000059.4(BRCA2):c.561G>A (p.Glu187=)
|
rs754678843
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.632-3C>T
|
rs568027879
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg)
|
rs876661187
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7435+10G>A
|
rs81002793
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
|
rs768605944
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.942A>G (p.Lys314=)
|
rs1384322636
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)
|
rs2073050616
|
|
NM_000061.3(BTK):c.-87C>T
|
rs1927601892
|
|
NM_000063.5(C2):c.-37C>A
|
rs776263411
|
|
NM_000063.6(C2):c.*120T>C
|
rs886061294
|
|
NM_000063.6(C2):c.*183C>T
|
rs567255004
|
|
NM_000063.6(C2):c.-21G>A
|
rs764589447
|
|
NM_000063.6(C2):c.1066C>T (p.Leu356Phe)
|
rs886061293
|
|
NM_000063.6(C2):c.109C>T (p.Leu37Phe)
|
rs1310333522
|
|
NM_000063.6(C2):c.1239G>C (p.Val413=)
|
rs751253087
|
|
NM_000063.6(C2):c.149C>T (p.Ser50Phe)
|
rs1277611780
|
|
NM_000063.6(C2):c.1602T>C (p.Leu534=)
|
rs767886405
|
|
NM_000063.6(C2):c.2201G>T (p.Arg734Leu)
|
rs146067615
|
|
NM_000063.6(C2):c.313G>A (p.Gly105Arg)
|
rs886061292
|
|
NM_000063.6(C2):c.337G>A (p.Val113Met)
|
rs1769482101
|
|
NM_000063.6(C2):c.81C>T (p.Asn27=)
|
rs201336507
|
|
NM_000063.6(C2):c.913C>T (p.Leu305Phe)
|
rs1562601398
|
|
NM_000064.3(C3):c.-75A>C
|
rs1316357912
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1686+10C>T
|
rs776885748
|
|
NM_000064.4(C3):c.1725T>C (p.Pro575=)
|
rs1967865144
|
|
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
|
rs1967690681
|
|
NM_000064.4(C3):c.2429C>T (p.Ser810Leu)
|
rs781280055
|
|
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
|
rs1967565745
|
|
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
|
rs1967565177
|
|
NM_000064.4(C3):c.267+9A>G
|
rs762058420
|
|
NM_000064.4(C3):c.2670C>G (p.Pro890=)
|
rs137956083
|
|
NM_000064.4(C3):c.2700C>G (p.Ile900Met)
|
rs763155610
|
|
NM_000064.4(C3):c.2857G>A (p.Gly953Ser)
|
rs779124363
|
|
NM_000064.4(C3):c.2863+15G>T
|
rs759976981
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser)
|
rs1918001974
|
|
NM_000064.4(C3):c.4120+8G>T
|
rs886054652
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4645C>T (p.Leu1549=)
|
rs149202905
|
|
NM_000064.4(C3):c.819C>T (p.Phe273=)
|
rs886054656
|
|
NM_000073.3(CD3G):c.*426T>G
|
rs199632748
|
|
NM_000073.3(CD3G):c.*450T>G
|
rs200498090
|
|
NM_000073.3(CD3G):c.*650C>T
|
rs201175995
|
|
NM_000073.3(CD3G):c.243T>C (p.Pro81=)
|
rs200028255
|
|
NM_000081.4(LYST):c.*1211G>A
|
|
|
NM_000081.4(LYST):c.*1295T>C
|
|
|
NM_000081.4(LYST):c.*1356G>T
|
|
|
NM_000081.4(LYST):c.*1379G>C
|
|
|
NM_000081.4(LYST):c.*1428T>G
|
|
|
NM_000081.4(LYST):c.*1438C>T
|
|
|
NM_000081.4(LYST):c.*1533G>A
|
|
|
NM_000081.4(LYST):c.*1792A>G
|
|
|
NM_000081.4(LYST):c.*1831A>C
|
|
|
NM_000081.4(LYST):c.*1861C>A
|
|
|
NM_000081.4(LYST):c.*191T>C
|
|
|
NM_000081.4(LYST):c.*246C>T
|
|
|
NM_000081.4(LYST):c.*247G>T
|
|
|
NM_000081.4(LYST):c.*275A>T
|
|
|
NM_000081.4(LYST):c.*319C>G
|
|
|
NM_000081.4(LYST):c.*329A>G
|
|
|
NM_000081.4(LYST):c.*519C>T
|
|
|
NM_000081.4(LYST):c.*5G>A
|
|
|
NM_000081.4(LYST):c.*694T>C
|
|
|
NM_000081.4(LYST):c.*712T>C
|
|
|
NM_000081.4(LYST):c.*809A>G
|
|
|
NM_000081.4(LYST):c.*824A>G
|
|
|
NM_000081.4(LYST):c.*831A>G
|
|
|
NM_000081.4(LYST):c.*873G>C
|
|
|
NM_000081.4(LYST):c.*891G>C
|
|
|
NM_000081.4(LYST):c.*907G>A
|
|
|
NM_000081.4(LYST):c.*921C>T
|
|
|
NM_000081.4(LYST):c.*94A>G
|
|
|
NM_000081.4(LYST):c.*962G>A
|
|
|
NM_000081.4(LYST):c.-131G>C
|
|
|
NM_000081.4(LYST):c.-134G>A
|
|
|
NM_000081.4(LYST):c.-136G>A
|
|
|
NM_000081.4(LYST):c.-139G>A
|
|
|
NM_000081.4(LYST):c.-140G>C
|
|
|
NM_000081.4(LYST):c.-142C>T
|
|
|
NM_000081.4(LYST):c.-97-13dup
|
|
|
NM_000081.4(LYST):c.-97-9T>G
|
|
|
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
|
|
|
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
|
|
|
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
|
|
|
NM_000081.4(LYST):c.10940+11A>T
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
|
|
|
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
|
|
|
NM_000081.4(LYST):c.11196-15T>G
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
|
|
|
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
|
|
|
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
|
|
|
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
|
|
|
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
|
|
|
NM_000081.4(LYST):c.193-3T>C
|
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
|
|
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
|
|
|
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
|
|
|
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
|
|
|
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
|
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
|
|
|
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
|
|
|
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
|
|
|
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
|
|
|
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
|
|
|
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
|
|
|
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
|
|
|
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
|
|
|
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
|
|
|
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
|
|
|
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
|
|
|
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
|
|
|
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
|
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
|
|
|
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
|
|
|
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
|
|
|
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
|
|
|
NM_000081.4(LYST):c.600C>T (p.His200=)
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
|
|
|
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
|
|
|
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
|
|
|
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
|
|
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
|
|
|
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
|
|
|
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
|
|
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
|
|
|
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
|
|
|
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
|
|
|
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
|
|
|
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
|
|
|
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
|
|
|
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
|
|
|
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
|
|
|
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
|
|
|
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
|
|
|
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
|
|
|
NM_000081.4(LYST):c.8535+7C>T
|
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
|
|
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
NM_000081.4(LYST):c.8801+15G>C
|
|
|
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
|
|
|
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
|
|
|
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
|
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
NM_000121.4(EPOR):c.*186_*187dup
|
rs528356712
|
|
NM_000121.4(EPOR):c.*619C>T
|
rs886054191
|
|
NM_000121.4(EPOR):c.*776A>G
|
rs553452571
|
|
NM_000121.4(EPOR):c.-8G>T
|
rs886054193
|
|
NM_000121.4(EPOR):c.-9G>A
|
rs1358532565
|
|
NM_000121.4(EPOR):c.1287G>A (p.Leu429=)
|
rs1968309037
|
|
NM_000121.4(EPOR):c.335C>T (p.Ala112Val)
|
rs373833534
|
|
NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)
|
rs750556052
|
|
NM_000121.4(EPOR):c.558C>A (p.Ala186=)
|
rs377322757
|
|
NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)
|
rs775215856
|
|
NM_000121.4(EPOR):c.663C>T (p.Arg221=)
|
rs747618605
|
|
NM_000121.4(EPOR):c.864C>T (p.Ser288=)
|
rs886054192
|
|
NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)
|
rs1968317522
|
|
NM_000135.4(FANCA):c.*1012A>G
|
rs886052477
|
|
NM_000135.4(FANCA):c.*109C>T
|
rs55679217
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.18C>G (p.Val6=)
|
rs916719756
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
|
rs17227354
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)
|
rs886052489
|
|
NM_000136.3(FANCC):c.*1059A>T
|
rs1044866059
|
|
NM_000136.3(FANCC):c.*1096T>C
|
rs111688138
|
|
NM_000136.3(FANCC):c.*1276C>A
|
rs1057515698
|
|
NM_000136.3(FANCC):c.*1359C>G
|
rs1009336483
|
|
NM_000136.3(FANCC):c.*1515C>T
|
rs2071028910
|
|
NM_000136.3(FANCC):c.*1727T>C
|
rs4647557
|
|
NM_000136.3(FANCC):c.*1895T>G
|
rs56161090
|
|
NM_000136.3(FANCC):c.*2164G>T
|
rs566582636
|
|
NM_000136.3(FANCC):c.*338C>A
|
rs920400068
|
|
NM_000136.3(FANCC):c.*516T>G
|
rs1004604171
|
|
NM_000136.3(FANCC):c.*825C>A
|
rs1057515700
|
|
NM_000136.3(FANCC):c.-172G>T
|
rs1057515706
|
|
NM_000136.3(FANCC):c.1534-8G>A
|
rs2071090579
|
|
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)
|
rs199968672
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000178.4(GSS):c.*323G>A
|
rs1017912804
|
|
NM_000178.4(GSS):c.*390G>T
|
rs886056639
|
|
NM_000178.4(GSS):c.*391A>T
|
rs886056638
|
|
NM_000178.4(GSS):c.-29T>A
|
rs886056641
|
|
NM_000178.4(GSS):c.-45G>C
|
rs1387349471
|
|
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg)
|
rs2081383041
|
|
NM_000178.4(GSS):c.1260C>G (p.Val420=)
|
rs369657861
|
|
NM_000178.4(GSS):c.448G>A (p.Ala150Thr)
|
rs549377370
|
|
NM_000178.4(GSS):c.4del (p.Ala2fs)
|
rs752560204
|
|
NM_000178.4(GSS):c.602C>T (p.Ser201Leu)
|
rs1040178198
|
|
NM_000178.4(GSS):c.787G>A (p.Val263Met)
|
rs1600381232
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.428-3C>T
|
rs886045744
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000204.4(CFI):c.-98T>C
|
rs886058984
|
|
NM_000204.5(CFI):c.1044+9G>A
|
rs568070697
|
|
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu)
|
rs886058983
|
|
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln)
|
rs886058982
|
|
NM_000204.5(CFI):c.373G>C (p.Gly125Arg)
|
rs910978973
|
|
NM_000204.5(CFI):c.91A>C (p.Lys31Gln)
|
rs140888912
|
|
NM_000206.3(IL2RG):c.595-7C>T
|
rs1057515981
|
|
NM_000211.5(ITGB2):c.*145C>T
|
rs1160263
|
|
NM_000211.5(ITGB2):c.*219AGG[1]
|
rs772191268
|
|
NM_000211.5(ITGB2):c.*403C>T
|
rs886057114
|
|
NM_000211.5(ITGB2):c.*56_*59dup
|
rs886057115
|
|
NM_000211.5(ITGB2):c.1084-5C>T
|
rs781696813
|
|
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=)
|
rs886057117
|
|
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)
|
rs202051683
|
|
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp)
|
rs372695770
|
|
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln)
|
rs2083765900
|
|
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=)
|
rs748574145
|
|
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe)
|
rs886057116
|
|
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg)
|
rs747266748
|
|
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys)
|
rs145850370
|
|
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys)
|
rs749135078
|
|
NM_000211.5(ITGB2):c.1877+12C>A
|
rs200144784
|
|
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=)
|
rs139840790
|
|
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
|
rs766106686
|
|
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=)
|
rs762881198
|
|
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg)
|
rs2084050156
|
|
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser)
|
rs770285096
|
|
NM_000211.5(ITGB2):c.54G>A (p.Gly18=)
|
rs372110619
|
|
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys)
|
rs755393167
|
|
NM_000211.5(ITGB2):c.591G>A (p.Glu197=)
|
rs768833543
|
|
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe)
|
rs2083934143
|
|
NM_000215.4(JAK3):c.*1094G>C
|
rs886054271
|
|
NM_000215.4(JAK3):c.*1218C>A
|
rs886054270
|
|
NM_000215.4(JAK3):c.*1353dup
|
rs886054269
|
|
NM_000215.4(JAK3):c.*137G>T
|
rs199679264
|
|
NM_000215.4(JAK3):c.*1398G>C
|
rs2094202113
|
|
NM_000215.4(JAK3):c.*1509G>T
|
rs750558618
|
|
NM_000215.4(JAK3):c.*1661T>G
|
rs1406329008
|
|
NM_000215.4(JAK3):c.*1752A>G
|
rs886054267
|
|
NM_000215.4(JAK3):c.*1787C>A
|
rs569854764
|
|
NM_000215.4(JAK3):c.*1835G>A
|
rs990232897
|
|
NM_000215.4(JAK3):c.*1931del
|
rs147498283
|
|
NM_000215.4(JAK3):c.*204G>A
|
rs2094204211
|
|
NM_000215.4(JAK3):c.*271G>T
|
rs886054277
|
|
NM_000215.4(JAK3):c.*306G>A
|
rs200658727
|
|
NM_000215.4(JAK3):c.*340dup
|
rs886054276
|
|
NM_000215.4(JAK3):c.*422C>T
|
rs902489404
|
|
NM_000215.4(JAK3):c.*593C>T
|
rs886054275
|
|
NM_000215.4(JAK3):c.*607G>A
|
rs1364267735
|
|
NM_000215.4(JAK3):c.*771C>T
|
rs923086181
|
|
NM_000215.4(JAK3):c.*841_*842dup
|
rs34803277
|
|
NM_000215.4(JAK3):c.*899A>G
|
rs2094202959
|
|
NM_000215.4(JAK3):c.1678G>T (p.Ala560Ser)
|
rs771634723
|
|
NM_000215.4(JAK3):c.1679C>G (p.Ala560Gly)
|
rs886054279
|
|
NM_000215.4(JAK3):c.1786+13C>T
|
rs781208496
|
|
NM_000215.4(JAK3):c.2222G>A (p.Arg741Gln)
|
rs202027945
|
|
NM_000215.4(JAK3):c.2258C>A (p.Ala753Asp)
|
rs2094220604
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys)
|
rs149452625
|
|
NM_000215.4(JAK3):c.297G>A (p.Leu99=)
|
rs3212716
|
|
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu)
|
rs201301192
|
|
NM_000215.4(JAK3):c.648G>T (p.Thr216=)
|
rs200376035
|
|
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)
|
rs200319694
|
|
NM_000222.3(KIT):c.*1059C>T
|
rs886059467
|
|
NM_000222.3(KIT):c.*1087G>C
|
rs144602457
|
|
NM_000222.3(KIT):c.*1101A>G
|
rs886059468
|
|
NM_000222.3(KIT):c.*1487_*1490del
|
rs374796688
|
|
NM_000222.3(KIT):c.*1577T>C
|
rs1285763768
|
|
NM_000222.3(KIT):c.*198A>G
|
rs886059464
|
|
NM_000222.3(KIT):c.*37T>C
|
rs1723067916
|
|
NM_000222.3(KIT):c.*381C>T
|
rs1723087369
|
|
NM_000222.3(KIT):c.*530A>G
|
rs534199544
|
|
NM_000222.3(KIT):c.-56A>C
|
rs1560366372
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
NM_000222.3(KIT):c.1264G>A (p.Val422Met)
|
rs1560414398
|
|
NM_000222.3(KIT):c.148G>T (p.Val50Leu)
|
rs200950545
|
|
NM_000222.3(KIT):c.211C>G (p.Leu71Val)
|
rs1720013807
|
|
NM_000222.3(KIT):c.252G>A (p.Thr84=)
|
rs56411694
|
|
NM_000222.3(KIT):c.2923G>C (p.Asp975His)
|
rs373152714
|
|
NM_000222.3(KIT):c.615G>A (p.Arg205=)
|
rs1720239935
|
|
NM_000222.3(KIT):c.78A>C (p.Gln26His)
|
rs764782713
|
|
NM_000243.3(MEFV):c.*169C>T
|
rs558576646
|
|
NM_000243.3(MEFV):c.*190G>C
|
rs114930858
|
|
NM_000243.3(MEFV):c.*292C>G
|
rs560496227
|
|
NM_000243.3(MEFV):c.*394C>T
|
rs1017341912
|
|
NM_000243.3(MEFV):c.*761C>G
|
rs281865551
|
|
NM_000243.3(MEFV):c.*779del
|
rs60407399
|
|
NM_000243.3(MEFV):c.*818A>C
|
rs886051965
|
|
NM_000243.3(MEFV):c.*959T>C
|
rs896051894
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln)
|
rs1958988591
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)
|
rs574055513
|
|
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
rs1281153557
|
|
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val)
|
rs1023300125
|
|
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr)
|
rs104895171
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
|
|
|
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys)
|
rs780976880
|
|
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu)
|
rs1959090017
|
|
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)
|
rs483353017
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000246.4(CIITA):c.*1122A>G
|
rs1446926082
|
|
NM_000246.4(CIITA):c.*307G>A
|
rs112026375
|
|
NM_000246.4(CIITA):c.*378G>A
|
rs751268540
|
|
NM_000246.4(CIITA):c.*48G>C
|
rs1201649733
|
|
NM_000246.4(CIITA):c.*570G>A
|
rs886051645
|
|
NM_000246.4(CIITA):c.*708C>A
|
rs952463695
|
|
NM_000246.4(CIITA):c.*709G>T
|
rs551164286
|
|
NM_000246.4(CIITA):c.1075A>G (p.Ile359Val)
|
rs2039171491
|
|
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val)
|
rs763945523
|
|
NM_000246.4(CIITA):c.1215G>T (p.Lys405Asn)
|
rs886051638
|
|
NM_000246.4(CIITA):c.1296A>T (p.Ala432=)
|
rs886051639
|
|
NM_000246.4(CIITA):c.147C>T (p.His49=)
|
rs886051636
|
|
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro)
|
rs886051640
|
|
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys)
|
rs949731275
|
|
NM_000246.4(CIITA):c.1971G>T (p.Leu657=)
|
rs886051641
|
|
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp)
|
rs146380734
|
|
NM_000246.4(CIITA):c.2148C>T (p.Phe716=)
|
rs762483007
|
|
NM_000246.4(CIITA):c.2816+14C>T
|
rs191941806
|
|
NM_000246.4(CIITA):c.2832G>T (p.Ser944=)
|
rs766538754
|
|
NM_000246.4(CIITA):c.3062+14G>A
|
rs370557976
|
|
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)
|
rs138925894
|
|
NM_000246.4(CIITA):c.366A>T (p.Ile122=)
|
rs535705691
|
|
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg)
|
rs886051637
|
|
NM_000246.4(CIITA):c.492C>G (p.Pro164=)
|
rs142478532
|
|
NM_000246.4(CIITA):c.773-11C>T
|
rs767721211
|
|
NM_000246.4(CIITA):c.961T>C (p.Cys321Arg)
|
rs2039023316
|
|
NM_000271.5(NPC1):c.*109T>G
|
rs188980155
|
|
NM_000271.5(NPC1):c.*129T>G
|
rs2058528928
|
|
NM_000271.5(NPC1):c.*161C>T
|
rs2058527793
|
|
NM_000271.5(NPC1):c.*327C>T
|
rs2058522612
|
|
NM_000271.5(NPC1):c.*328A>C
|
rs1326365719
|
|
NM_000271.5(NPC1):c.*334T>A
|
rs886053664
|
|
NM_000271.5(NPC1):c.*349G>A
|
rs886053663
|
|
NM_000271.5(NPC1):c.*485dup
|
rs757215027
|
|
NM_000271.5(NPC1):c.*500A>G
|
rs886053662
|
|
NM_000271.5(NPC1):c.-116C>G
|
rs574376933
|
|
NM_000271.5(NPC1):c.-135C>T
|
rs886053669
|
|
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
|
rs2058928378
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
|
rs1310067072
|
|
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala)
|
rs886053665
|
|
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln)
|
rs775077140
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2734A>G (p.Met912Val)
|
rs746398811
|
|
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu)
|
rs786204714
|
|
NM_000271.5(NPC1):c.286A>G (p.Arg96Gly)
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
NM_000355.3(TCN2):c.-181A>C
|
rs2240433
|
|
NM_000355.4(TCN2):c.*173C>T
|
rs896653059
|
|
NM_000355.4(TCN2):c.*283C>G
|
rs538133033
|
|
NM_000355.4(TCN2):c.*415T>G
|
rs560130628
|
|
NM_000355.4(TCN2):c.*93G>C
|
rs886057398
|
|
NM_000355.4(TCN2):c.-153C>G
|
rs886057395
|
|
NM_000355.4(TCN2):c.-6G>A
|
rs771507572
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp)
|
rs886057396
|
|
NM_000355.4(TCN2):c.559C>T (p.His187Tyr)
|
rs1295178933
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000355.4(TCN2):c.581-4C>T
|
rs867249218
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000361.3(THBD):c.*1153A>G
|
rs886056542
|
|
NM_000361.3(THBD):c.*1519G>C
|
rs1984567640
|
|
NM_000361.3(THBD):c.*1845G>T
|
rs867940213
|
|
NM_000361.3(THBD):c.*1869G>A
|
rs886056539
|
|
NM_000361.3(THBD):c.*1G>T
|
rs1984610334
|
|
NM_000361.3(THBD):c.*27C>T
|
rs530087674
|
|
NM_000361.3(THBD):c.*508dup
|
rs373979588
|
|
NM_000361.3(THBD):c.*562G>C
|
rs886056544
|
|
NM_000361.3(THBD):c.*663C>T
|
rs886056543
|
|
NM_000361.3(THBD):c.*775G>C
|
rs539785413
|
|
NM_000361.3(THBD):c.*943dup
|
rs759004623
|
|
NM_000361.3(THBD):c.1205A>G (p.His402Arg)
|
rs1984634547
|
|
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)
|
rs1984617316
|
|
NM_000361.3(THBD):c.1674C>G (p.Ser558=)
|
rs1984613257
|
|
NM_000361.3(THBD):c.656G>T (p.Gly219Val)
|
rs886056548
|
|
NM_000361.3(THBD):c.747C>G (p.Asn249Lys)
|
rs886056546
|
|
NM_000361.3(THBD):c.885C>T (p.Phe295=)
|
rs1568666169
|
|
NM_000361.3(THBD):c.897C>T (p.Asn299=)
|
rs1008621697
|
|
NM_000417.3(IL2RA):c.*1026G>T
|
rs28360484
|
|
NM_000417.3(IL2RA):c.*1154_*1158dup
|
rs543983290
|
|
NM_000417.3(IL2RA):c.*1426G>A
|
rs1589287690
|
|
NM_000417.3(IL2RA):c.*1443G>C
|
rs946697468
|
|
NM_000417.3(IL2RA):c.*1539T>C
|
rs886047074
|
|
NM_000417.3(IL2RA):c.*1575G>A
|
rs886047072
|
|
NM_000417.3(IL2RA):c.*1619G>A
|
rs773626989
|
|
NM_000417.3(IL2RA):c.*1643C>A
|
rs1839186433
|
|
NM_000417.3(IL2RA):c.*261A>G
|
rs1784639100
|
|
NM_000417.3(IL2RA):c.*410_*411del
|
rs886047079
|
|
NM_000417.3(IL2RA):c.*414C>T
|
rs886047078
|
|
NM_000417.3(IL2RA):c.*513T>C
|
rs1839203302
|
|
NM_000417.3(IL2RA):c.*672A>G
|
rs886047077
|
|
NM_000417.3(IL2RA):c.*676C>T
|
rs566194606
|
|
NM_000417.3(IL2RA):c.*884C>T
|
rs886047076
|
|
NM_000417.3(IL2RA):c.*895T>A
|
rs1589287979
|
|
NM_000417.3(IL2RA):c.-211C>G
|
rs886047084
|
|
NM_000417.3(IL2RA):c.-68G>T
|
rs539210850
|
|
NM_000417.3(IL2RA):c.256+1G>A
|
rs1564543963
|
|
NM_000417.3(IL2RA):c.257-11A>G
|
rs929482812
|
|
NM_000417.3(IL2RA):c.328C>G (p.Gln110Glu)
|
rs1839441418
|
|
NM_000417.3(IL2RA):c.678G>T (p.Met226Ile)
|
rs1839342849
|
|
NM_000417.3(IL2RA):c.693G>C (p.Glu231Asp)
|
rs139266750
|
|
NM_000417.3(IL2RA):c.76G>C (p.Asp26His)
|
rs55868253
|
|
NM_000417.3(IL2RA):c.777C>A (p.Leu259=)
|
rs554680869
|
|
NM_000431.4(MVK):c.*125G>T
|
rs541159703
|
|
NM_000431.4(MVK):c.*308G>A
|
rs886048935
|
|
NM_000431.4(MVK):c.*566G>C
|
rs1473857064
|
|
NM_000431.4(MVK):c.*571G>A
|
rs548094591
|
|
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr)
|
rs886048931
|
|
NM_000431.4(MVK):c.33G>A (p.Pro11=)
|
rs779289416
|
|
NM_000431.4(MVK):c.37A>C (p.Lys13Gln)
|
rs104895307
|
|
NM_000431.4(MVK):c.598C>T (p.Pro200Ser)
|
rs886048932
|
|
NM_000433.4(NCF2):c.*264AG[2]
|
rs886045650
|
|
NM_000433.4(NCF2):c.*393del
|
rs771465757
|
|
NM_000433.4(NCF2):c.*393dup
|
rs771465757
|
|
NM_000433.4(NCF2):c.*397_*398insTCA
|
rs886045648
|
|
NM_000433.4(NCF2):c.*508_*512dup
|
rs555649211
|
|
NM_000433.4(NCF2):c.*510T>A
|
rs886045646
|
|
NM_000433.4(NCF2):c.*539GTTT[1]
|
rs376681445
|
|
NM_000433.4(NCF2):c.1071C>T (p.His357=)
|
rs1672170931
|
|
NM_000433.4(NCF2):c.1084G>A (p.Val362Ile)
|
rs886045656
|
|
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg)
|
rs886045655
|
|
NM_000433.4(NCF2):c.1291-15C>G
|
rs886045654
|
|
NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg)
|
rs1671979597
|
|
NM_000433.4(NCF2):c.1385T>G (p.Val462Gly)
|
rs886045652
|
|
NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu)
|
rs886045651
|
|
NM_000433.4(NCF2):c.707T>C (p.Ile236Thr)
|
rs764405660
|
|
NM_000433.4(NCF2):c.855+1G>A
|
rs1352805193
|
|
NM_000433.4(NCF2):c.918G>A (p.Gln306=)
|
rs535561432
|
|
NM_000448.3(RAG1):c.*1074G>A
|
rs529708456
|
|
NM_000448.3(RAG1):c.*1111G>C
|
rs1850870990
|
|
NM_000448.3(RAG1):c.*1277G>A
|
rs1850873586
|
|
NM_000448.3(RAG1):c.*1515T>C
|
rs1850877439
|
|
NM_000448.3(RAG1):c.*1539G>A
|
rs987368823
|
|
NM_000448.3(RAG1):c.*1562A>G
|
rs185464049
|
|
NM_000448.3(RAG1):c.*1611G>A
|
rs886048262
|
|
NM_000448.3(RAG1):c.*1701T>C
|
rs886048263
|
|
NM_000448.3(RAG1):c.*2211C>T
|
rs538916870
|
|
NM_000448.3(RAG1):c.*2442G>A
|
rs886048265
|
|
NM_000448.3(RAG1):c.*3122del
|
rs141384582
|
|
NM_000448.3(RAG1):c.*3191T>C
|
rs1159054368
|
|
NM_000448.3(RAG1):c.*362T>C
|
rs946957748
|
|
NM_000448.3(RAG1):c.*363T>C
|
rs1850859738
|
|
NM_000448.3(RAG1):c.*386del
|
rs886048258
|
|
NM_000448.3(RAG1):c.*766A>G
|
rs886048259
|
|
NM_000448.3(RAG1):c.*856C>A
|
rs886048261
|
|
NM_000448.3(RAG1):c.-10C>T
|
rs886048251
|
|
NM_000448.3(RAG1):c.1077A>G (p.Pro359=)
|
rs886048253
|
|
NM_000448.3(RAG1):c.1770G>T (p.Leu590=)
|
rs1850820804
|
|
NM_000448.3(RAG1):c.1786G>A (p.Val596Met)
|
rs1850820995
|
|
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)
|
rs1850780083
|
|
NM_000448.3(RAG1):c.276C>T (p.His92=)
|
rs550985019
|
|
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile)
|
rs762625040
|
|
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile)
|
rs886048255
|
|
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu)
|
rs749223640
|
|
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu)
|
rs1850784411
|
|
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser)
|
rs886048252
|
|
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys)
|
rs147203889
|
|
NM_000536.4(RAG2):c.*136A>C
|
rs763674526
|
|
NM_000536.4(RAG2):c.*33G>T
|
rs886048270
|
|
NM_000536.4(RAG2):c.*522C>G
|
rs886048267
|
|
NM_000536.4(RAG2):c.*72T>C
|
rs886048269
|
|
NM_000536.4(RAG2):c.*90T>G
|
rs886048268
|
|
NM_000536.4(RAG2):c.-146G>T
|
rs1851360292
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
|
rs1590713653
|
|
NM_000536.4(RAG2):c.1403A>G (p.His468Arg)
|
rs751064709
|
|
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)
|
rs1851105950
|
|
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp)
|
rs886048271
|
|
NM_000538.3(RFXAP):c.*1431_*1432delGT
|
rs886050146
|
|
NM_000538.3(RFXAP):c.*1541G>C
|
rs2057988057
|
|
NM_000538.3(RFXAP):c.*1663G>A
|
rs886050147
|
|
NM_000538.3(RFXAP):c.-142T>C
|
rs2057951998
|
|
NM_000538.4(RFXAP):c.*1240G>T
|
rs886050144
|
|
NM_000538.4(RFXAP):c.*660A>T
|
rs2057985302
|
|
NM_000538.4(RFXAP):c.*81G>A
|
rs886050143
|
|
NM_000538.4(RFXAP):c.-105C>A
|
rs527311083
|
|
NM_000538.4(RFXAP):c.601-4C>T
|
rs886050142
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
|
rs1554933800
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)
|
rs886048447
|
|
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu)
|
rs140269316
|
|
NM_000543.5(SMPD1):c.394G>A (p.Val132Met)
|
rs189859589
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe)
|
rs1690892137
|
|
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)
|
rs886048444
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser)
|
rs1847928024
|
|
NM_000543.5(SMPD1):c.858C>A (p.Val286=)
|
rs1194457629
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.879C>T (p.Asp293=)
|
rs886048445
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000628.5(IL10RB):c.*17A>G
|
rs886057003
|
|
NM_000628.5(IL10RB):c.*20C>T
|
rs886057004
|
|
NM_000628.5(IL10RB):c.*593TC[1]
|
rs886057007
|
|
NM_000628.5(IL10RB):c.*616del
|
rs5843596
|
|
NM_000628.5(IL10RB):c.*796T>C
|
rs886057010
|
|
NM_000628.5(IL10RB):c.-66A>T
|
rs1025835868
|
|
NM_000628.5(IL10RB):c.-94C>A
|
rs556338583
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
NM_000628.5(IL10RB):c.727G>A (p.Ala243Thr)
|
rs1058861
|
|
NM_000639.3(FASLG):c.*601GT[14]
|
rs10640513
|
|
NM_000639.3(FASLG):c.*601GT[18]
|
rs10640513
|
|
NM_000639.3(FASLG):c.*601GT[19]
|
rs10640513
|
|
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del)
|
rs772297337
|
|
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys)
|
rs886045569
|
|
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile)
|
rs376317481
|
|
NM_000732.6(CD3D):c.-37G>T
|
rs886047738
|
|
NM_000732.6(CD3D):c.121A>G (p.Ile41Val)
|
rs886047737
|
|
NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)
|
rs201889742
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
NM_000733.4(CD3E):c.*383C>T
|
rs200729830
|
|
NM_000733.4(CD3E):c.*441C>T
|
rs886047736
|
|
NM_000733.4(CD3E):c.*535C>G
|
rs200286219
|
|
NM_000733.4(CD3E):c.*557T>C
|
rs1948165620
|
|
NM_000733.4(CD3E):c.*604G>T
|
rs1263009661
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_001018113.3(FANCB):c.-219G>T
|
rs373175926
|
|
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)
|
rs956498867
|
|
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
|
rs2092370985
|
|
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
|
rs2092368698
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)
|
rs970828551
|
|
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)
|
rs1057515809
|
|
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
|
rs2092461325
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe)
|
rs886057663
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
|
rs2087129096
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
|
rs2087245604
|
|
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
|
rs1232065920
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu)
|
rs886057690
|
|
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
|
rs1168778380
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu)
|
rs886057691
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly)
|
rs886057692
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001018115.3(FANCD2):c.4281+517A>C
|
rs1695165243
|
|
NM_001018115.3(FANCD2):c.4281+543C>T
|
rs540249462
|
|
NM_001018115.3(FANCD2):c.4281+823A>G
|
rs886057697
|
|
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
|
rs769402896
|
|
NM_001025603.2(RFX5):c.*1118A>G
|
rs755296550
|
|
NM_001025603.2(RFX5):c.*1166A>G
|
rs1469541203
|
|
NM_001025603.2(RFX5):c.*1426A>G
|
rs1650383710
|
|
NM_001025603.2(RFX5):c.*224T>C
|
rs886045281
|
|
NM_001025603.2(RFX5):c.*694del
|
rs570133232
|
|
NM_001025603.2(RFX5):c.*721G>T
|
rs116610938
|
|
NM_001025603.2(RFX5):c.*761A>T
|
rs1650440219
|
|
NM_001025603.2(RFX5):c.*985del
|
rs886045279
|
|
NM_001025603.2(RFX5):c.-131-8C>A
|
rs886045284
|
|
NM_001025603.2(RFX5):c.129G>A (p.Gln43=)
|
rs1651009031
|
|
NM_001025603.2(RFX5):c.1604dup (p.Asp536fs)
|
rs1557829931
|
|
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del)
|
rs886045282
|
|
NM_001025603.2(RFX5):c.4G>A (p.Ala2Thr)
|
rs886045283
|
|
NM_001025603.2(RFX5):c.859-15C>T
|
rs377295214
|
|
NM_001033855.3(DCLRE1C):c.*1044A>G
|
rs1834496493
|
|
NM_001033855.3(DCLRE1C):c.*1060G>A
|
rs886046835
|
|
NM_001033855.3(DCLRE1C):c.*1064A>G
|
rs41300688
|
|
NM_001033855.3(DCLRE1C):c.*1108G>C
|
rs1305891604
|
|
NM_001033855.3(DCLRE1C):c.*1174G>A
|
rs41300694
|
|
NM_001033855.3(DCLRE1C):c.*1216G>A
|
rs41300696
|
|
NM_001033855.3(DCLRE1C):c.*1390T>G
|
rs12245956
|
|
NM_001033855.3(DCLRE1C):c.*1408G>A
|
rs886046833
|
|
NM_001033855.3(DCLRE1C):c.*1487G>C
|
rs528458946
|
|
NM_001033855.3(DCLRE1C):c.*154G>T
|
rs886046849
|
|
NM_001033855.3(DCLRE1C):c.*241_*242del
|
rs750020058
|
|
NM_001033855.3(DCLRE1C):c.*306G>A
|
rs886046846
|
|
NM_001033855.3(DCLRE1C):c.*529del
|
rs886046843
|
|
NM_001033855.3(DCLRE1C):c.*530A>C
|
rs886046842
|
|
NM_001033855.3(DCLRE1C):c.*550A>G
|
rs36017616
|
|
NM_001033855.3(DCLRE1C):c.*550dup
|
rs60410513
|
|
NM_001033855.3(DCLRE1C):c.*560dup
|
rs886046838
|
|
NM_001033855.3(DCLRE1C):c.*770_*773dup
|
rs770468446
|
|
NM_001033855.3(DCLRE1C):c.*878C>G
|
rs575242970
|
|
NM_001033855.3(DCLRE1C):c.*916_*921del
|
rs886046836
|
|
NM_001033855.3(DCLRE1C):c.*949G>C
|
rs535208039
|
|
NM_001033855.3(DCLRE1C):c.1241A>G (p.Glu414Gly)
|
rs1834845817
|
|
NM_001033855.3(DCLRE1C):c.1802C>T (p.Thr601Ile)
|
rs1834728922
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=)
|
rs756715291
|
|
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp)
|
rs41297018
|
|
NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs)
|
rs1564414831
|
|
NM_001065.4(TNFRSF1A):c.*394A>T
|
rs150426904
|
|
NM_001065.4(TNFRSF1A):c.-162T>C
|
rs886049751
|
|
NM_001065.4(TNFRSF1A):c.-82C>T
|
rs1948200491
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
NM_001065.4(TNFRSF1A):c.1356T>A (p.Ser452Arg)
|
rs886049750
|
|
NM_001065.4(TNFRSF1A):c.472+6C>A
|
rs104895277
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
NM_001065.4(TNFRSF1A):c.756A>G (p.Thr252=)
|
rs1948029493
|
|
NM_001079.4(ZAP70):c.-81T>G
|
rs200416837
|
|
NM_001079.4(ZAP70):c.156C>T (p.His52=)
|
rs138447206
|
|
NM_001079.4(ZAP70):c.1737-7C>T
|
rs1573292727
|
|
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys)
|
rs745420613
|
|
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg)
|
rs1266171275
|
|
NM_001079.4(ZAP70):c.516G>A (p.Glu172=)
|
rs886056485
|
|
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu)
|
rs373708142
|
|
NM_001083116.1(PRF1):c.*715T>C
|
rs917373681
|
|
NM_001083116.3(PRF1):c.*112G>A
|
rs886047108
|
|
NM_001083116.3(PRF1):c.*193A>G
|
rs1219553824
|
|
NM_001083116.3(PRF1):c.*367G>A
|
rs146245380
|
|
NM_001083116.3(PRF1):c.*486T>C
|
rs886047107
|
|
NM_001083116.3(PRF1):c.*540T>C
|
rs1848140864
|
|
NM_001083116.3(PRF1):c.*559T>G
|
rs530803679
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
NM_001083116.3(PRF1):c.3G>T (p.Met1Ile)
|
rs758728749
|
|
NM_001083116.3(PRF1):c.434T>C (p.Val145Ala)
|
rs535296791
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
NM_001083116.3(PRF1):c.519G>C (p.Thr173=)
|
rs112883709
|
|
NM_001083116.3(PRF1):c.941T>C (p.Leu314Pro)
|
rs886047109
|
|
NM_001083116.3(PRF1):c.946T>C (p.Phe316Leu)
|
rs1848173379
|
|
NM_001113378.2(FANCI):c.*614T>G
|
rs886051521
|
|
NM_001113378.2(FANCI):c.*662C>G
|
rs560246181
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
|
rs2053765806
|
|
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
|
rs780031757
|
|
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)
|
rs886051511
|
|
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
|
rs2054115728
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
|
rs765168059
|
|
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
|
rs2055029234
|
|
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
|
rs1229086339
|
|
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
|
rs749287934
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3925-84_3925-81dup
|
rs1444126104
|
|
NM_001113378.2(FANCI):c.606C>T (p.Phe202=)
|
rs886051508
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
|
rs1254032261
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001114636.1(FANCL):c.-34T>C
|
rs374960980
|
|
NM_001114636.1(FANCL):c.-39A>C
|
rs41281511
|
|
NM_001114636.1(FANCL):c.-40C>A
|
rs199661008
|
|
NM_001114636.1(FANCL):c.-44C>T
|
rs780348127
|
|
NM_001141945.3(ACTA2):c.-24+236C>T
|
rs886047457
|
|
NM_001141945.3(ACTA2):c.-24+399C>T
|
rs886047456
|
|
NM_001142279.2(RNASEH2B):c.-293A>G
|
rs1879223372
|
|
NM_001142279.2(RNASEH2B):c.-294C>T
|
rs1879223150
|
|
NM_001142279.2(RNASEH2B):c.-313C>G
|
rs886050287
|
|
NM_001167.4(XIAP):c.*2401C>T
|
rs771727226
|
|
NM_001167.4(XIAP):c.*2901T>C
|
rs1057515751
|
|
NM_001167.4(XIAP):c.*3201A>G
|
rs1057515752
|
|
NM_001167.4(XIAP):c.*3547C>G
|
rs775436856
|
|
NM_001167.4(XIAP):c.*3573G>A
|
rs1037858715
|
|
NM_001167.4(XIAP):c.*3589A>C
|
rs2053592868
|
|
NM_001167.4(XIAP):c.*4307_*4309dup
|
rs397713705
|
|
NM_001167.4(XIAP):c.*4336T>G
|
rs2053603008
|
|
NM_001167.4(XIAP):c.*5047dup
|
rs368295939
|
|
NM_001167.4(XIAP):c.*5070del
|
rs751242607
|
|
NM_001167.4(XIAP):c.*5180dup
|
rs60841987
|
|
NM_001167.4(XIAP):c.*6211C>T
|
rs1022688672
|
|
NM_001167.4(XIAP):c.*6216G>A
|
rs1057515760
|
|
NM_001167.4(XIAP):c.*866A>G
|
rs2053568767
|
|
NM_001167.4(XIAP):c.*93T>G
|
rs2053562277
|
|
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn)
|
rs199610221
|
|
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp)
|
rs2053559883
|
|
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)
|
rs1603384499
|
|
NM_001228.5(CASP8):c.-117C>A
|
rs1945936282
|
|
NM_001228.5(CASP8):c.-208A>G
|
rs1576164512
|
|
NM_001243133.2(NLRP3):c.*139T>G
|
rs1664758254
|
|
NM_001243133.2(NLRP3):c.*2A>G
|
rs1664748029
|
|
NM_001243133.2(NLRP3):c.-482dup
|
rs144128307
|
|
NM_001243133.2(NLRP3):c.-523G>A
|
rs1662192950
|
|
NM_001243133.2(NLRP3):c.-533C>G
|
rs141994679
|
|
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)
|
rs1305028279
|
|
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)
|
rs1351993448
|
|
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu)
|
rs1057515488
|
|
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)
|
rs375013904
|
|
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=)
|
rs1057515489
|
|
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)
|
rs201877163
|
|
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg)
|
rs876660971
|
|
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)
|
rs1662708025
|
|
NM_001250.5(CD40):c.-55C>G
|
rs573086622
|
|
NM_001250.5(CD40):c.-67G>T
|
rs575088069
|
|
NM_001250.6(CD40):c.*85G>T
|
rs886056718
|
|
NM_001250.6(CD40):c.311C>T (p.Thr104Ile)
|
rs1171596083
|
|
NM_001250.6(CD40):c.339T>C (p.Ser113=)
|
rs886056717
|
|
NM_001250.6(CD40):c.379C>T (p.Pro127Ser)
|
rs2085343720
|
|
NM_001250.6(CD40):c.397C>T (p.Gln133Ter)
|
rs1460849632
|
|
NM_001250.6(CD40):c.647-4_647-3dup
|
rs749590513
|
|
NM_001369369.1(FOXN1):c.*154G>A
|
rs188710272
|
|
NM_001369369.1(FOXN1):c.*165C>G
|
rs577342392
|
|
NM_001369369.1(FOXN1):c.*461C>T
|
rs886052760
|
|
NM_001369369.1(FOXN1):c.123+10C>T
|
rs575898161
|
|
NM_001369369.1(FOXN1):c.124-14C>T
|
rs771852938
|
|
NM_001369369.1(FOXN1):c.1549G>T (p.Asp517Tyr)
|
rs200053524
|
|
NM_001369369.1(FOXN1):c.1822C>T (p.Leu608=)
|
rs886052758
|
|
NM_001369369.1(FOXN1):c.611C>T (p.Pro204Leu)
|
rs886052757
|
|
NM_001370466.1(NOD2):c.*183C>T
|
rs547264433
|
|
NM_001370466.1(NOD2):c.*325G>A
|
rs886052046
|
|
NM_001370466.1(NOD2):c.*329_*334dup
|
rs886052047
|
|
NM_001370466.1(NOD2):c.*422C>G
|
rs886052049
|
|
NM_001370466.1(NOD2):c.*64G>C
|
rs1053712094
|
|
NM_001370466.1(NOD2):c.-8-2193G>A
|
rs886052043
|
|
NM_001370466.1(NOD2):c.-8-2202A>G
|
rs1963694151
|
|
NM_001370466.1(NOD2):c.1188G>A (p.Val396=)
|
rs77966199
|
|
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs)
|
rs754073471
|
|
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)
|
rs1328584012
|
|
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu)
|
rs777949388
|
|
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val)
|
rs867131858
|
|
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn)
|
rs756184386
|
|
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)
|
rs765335094
|
|
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)
|
rs886052044
|
|
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro)
|
rs1965233783
|
|
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)
|
rs1964416023
|
|
NM_001370466.1(NOD2):c.747G>A (p.Leu249=)
|
rs763504952
|
|
NM_001372051.1(CASP8):c.*223C>T
|
rs1949586192
|
|
NM_001372051.1(CASP8):c.*266C>G
|
rs749953038
|
|
NM_001372051.1(CASP8):c.*272A>G
|
rs1439186063
|
|
NM_001372051.1(CASP8):c.*346C>T
|
rs1949592559
|
|
NM_001372051.1(CASP8):c.*578C>A
|
rs886055434
|
|
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln)
|
rs771150445
|
|
NM_001375808.2(LPIN2):c.*1199G>A
|
rs566472161
|
|
NM_001375808.2(LPIN2):c.*1220G>A
|
rs886053749
|
|
NM_001375808.2(LPIN2):c.*1417C>T
|
rs745743898
|
|
NM_001375808.2(LPIN2):c.*1473T>G
|
rs540306659
|
|
NM_001375808.2(LPIN2):c.*1494G>A
|
rs577975091
|
|
NM_001375808.2(LPIN2):c.*1504T>C
|
rs751740607
|
|
NM_001375808.2(LPIN2):c.*1514G>A
|
rs544570644
|
|
NM_001375808.2(LPIN2):c.*217G>T
|
rs886053763
|
|
NM_001375808.2(LPIN2):c.*2216C>A
|
rs886053746
|
|
NM_001375808.2(LPIN2):c.*2685GAAAAA[1]
|
rs777601819
|
|
NM_001375808.2(LPIN2):c.*271T>G
|
rs2077028775
|
|
NM_001375808.2(LPIN2):c.*2759A>C
|
rs886053743
|
|
NM_001375808.2(LPIN2):c.*2787C>G
|
rs886053742
|
|
NM_001375808.2(LPIN2):c.*2830C>T
|
rs886053741
|
|
NM_001375808.2(LPIN2):c.*2831CA[1]
|
rs886053740
|
|
NM_001375808.2(LPIN2):c.*2890_*2893dup
|
rs540600202
|
|
NM_001375808.2(LPIN2):c.*362T>C
|
rs886053760
|
|
NM_001375808.2(LPIN2):c.*493G>A
|
rs886053758
|
|
NM_001375808.2(LPIN2):c.*507T>C
|
rs886053756
|
|
NM_001375808.2(LPIN2):c.*703dup
|
rs200435334
|
|
NM_001375808.2(LPIN2):c.*767A>G
|
rs886053754
|
|
NM_001375808.2(LPIN2):c.*772G>A
|
rs948592383
|
|
NM_001375808.2(LPIN2):c.*792G>C
|
rs542453339
|
|
NM_001375808.2(LPIN2):c.*796T>C
|
rs567530586
|
|
NM_001375808.2(LPIN2):c.*805C>G
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*805C>T
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*813A>C
|
rs547125074
|
|
NM_001375808.2(LPIN2):c.*855A>G
|
rs2077017832
|
|
NM_001375808.2(LPIN2):c.*90C>T
|
rs547359065
|
|
NM_001375808.2(LPIN2):c.-10+1354A>G
|
rs886053769
|
|
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln)
|
rs2077310038
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=)
|
rs2077101778
|
|
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr)
|
rs200256485
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly)
|
rs2077036512
|
|
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp)
|
rs746938405
|
|
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile)
|
rs759046454
|
|
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp)
|
rs886053768
|
|
NM_001378373.1(MBL2):c.*1252A>C
|
rs1840312785
|
|
NM_001378373.1(MBL2):c.*1429A>C
|
rs577771508
|
|
NM_001378373.1(MBL2):c.*1568C>T
|
rs886047045
|
|
NM_001378373.1(MBL2):c.*1695G>T
|
rs35768126
|
|
NM_001378373.1(MBL2):c.*1743T>C
|
rs529374068
|
|
NM_001378373.1(MBL2):c.*2032C>T
|
rs977172176
|
|
NM_001378373.1(MBL2):c.*2033G>A
|
rs544901610
|
|
NM_001378373.1(MBL2):c.*2066G>T
|
rs886047044
|
|
NM_001378373.1(MBL2):c.*2129T>C
|
rs1382426241
|
|
NM_001378373.1(MBL2):c.*2470A>C
|
rs886047043
|
|
NM_001378373.1(MBL2):c.*2477C>T
|
rs55855374
|
|
NM_001378373.1(MBL2):c.*2648C>A
|
rs183826308
|
|
NM_001378373.1(MBL2):c.*2751A>C
|
rs758996436
|
|
NM_001378373.1(MBL2):c.*282A>G
|
rs886047051
|
|
NM_001378373.1(MBL2):c.*324C>T
|
rs551192639
|
|
NM_001378373.1(MBL2):c.*366G>A
|
rs1840327961
|
|
NM_001378373.1(MBL2):c.*783C>T
|
rs567802378
|
|
NM_001378373.1(MBL2):c.*937A>G
|
rs886047048
|
|
NM_001378373.1(MBL2):c.*953T>C
|
rs886047047
|
|
NM_001378373.1(MBL2):c.*966A>G
|
rs1336069649
|
|
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)
|
rs886047053
|
|
NM_001378373.1(MBL2):c.187+9T>C
|
rs1840389903
|
|
NM_001378373.1(MBL2):c.549C>T (p.Phe183=)
|
rs1840337967
|
|
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys)
|
rs756763361
|
|
NM_001378373.1(MBL2):c.99T>G (p.Pro33=)
|
rs1840392728
|
|
NM_001378687.1(ATP2C1):c.*1021G>C
|
rs2062932036
|
|
NM_001378687.1(ATP2C1):c.*1471T>A
|
rs878906207
|
|
NM_001378687.1(ATP2C1):c.*1564C>T
|
rs886057993
|
|
NM_001378687.1(ATP2C1):c.*1786G>A
|
rs2062970980
|
|
NM_001378687.1(ATP2C1):c.*322ATCT[1]
|
rs886057984
|
|
NM_001378687.1(ATP2C1):c.*343T>A
|
rs777719092
|
|
NM_001378687.1(ATP2C1):c.*581T>C
|
rs1236440824
|
|
NM_001378687.1(ATP2C1):c.-180-57C>T
|
rs115940289
|
|
NM_001378687.1(ATP2C1):c.-64A>G
|
rs886057980
|
|
NM_001378687.1(ATP2C1):c.-80TC[1]
|
rs886057978
|
|
NM_001378687.1(ATP2C1):c.1309-13T>C
|
rs533035827
|
|
NM_001378687.1(ATP2C1):c.1571-11T>C
|
rs2061653618
|
|
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys)
|
rs781604274
|
|
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=)
|
rs2062610077
|
|
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val)
|
rs765124724
|
|
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=)
|
rs886057983
|
|
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser)
|
rs2059404554
|
|
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile)
|
rs1173877573
|
|
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=)
|
rs886057982
|
|
NM_001430.5(EPAS1):c.*1134T>C
|
rs886056100
|
|
NM_001430.5(EPAS1):c.*1373C>G
|
rs112031193
|
|
NM_001430.5(EPAS1):c.*1611A>G
|
rs571546536
|
|
NM_001430.5(EPAS1):c.*1898C>A
|
rs1337410292
|
|
NM_001430.5(EPAS1):c.*1916C>A
|
rs886056104
|
|
NM_001430.5(EPAS1):c.*1917G>A
|
rs748689684
|
|
NM_001430.5(EPAS1):c.*285C>G
|
rs1011091519
|
|
NM_001430.5(EPAS1):c.*537T>G
|
rs1449426162
|
|
NM_001430.5(EPAS1):c.*540del
|
rs75932330
|
|
NM_001430.5(EPAS1):c.*594A>G
|
rs886056093
|
|
NM_001430.5(EPAS1):c.*680dup
|
rs886056094
|
|
NM_001430.5(EPAS1):c.*715AG[1]
|
rs886056096
|
|
NM_001430.5(EPAS1):c.*733C>G
|
rs886056097
|
|
NM_001430.5(EPAS1):c.*983C>A
|
rs886056099
|
|
NM_001430.5(EPAS1):c.-111G>C
|
rs530436826
|
|
NM_001430.5(EPAS1):c.-138G>T
|
rs886056081
|
|
NM_001430.5(EPAS1):c.-255G>T
|
rs886056079
|
|
NM_001430.5(EPAS1):c.-401G>A
|
rs1682903258
|
|
NM_001430.5(EPAS1):c.-472G>A
|
rs886056075
|
|
NM_001430.5(EPAS1):c.1035-6del
|
rs757409274
|
|
NM_001430.5(EPAS1):c.1203C>A (p.Ala401=)
|
rs1254793733
|
|
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=)
|
rs749851497
|
|
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=)
|
rs142534349
|
|
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala)
|
rs886056088
|
|
NM_001430.5(EPAS1):c.218-10_218-9insTC
|
rs1553394835
|
|
NM_001430.5(EPAS1):c.218-11_218-10insG
|
rs142684263
|
|
NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly)
|
rs541354758
|
|
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp)
|
rs183095352
|
|
NM_001430.5(EPAS1):c.591C>A (p.Gly197=)
|
rs1392533284
|
|
NM_001430.5(EPAS1):c.861G>A (p.Glu287=)
|
rs886056085
|
|
NM_001558.4(IL10RA):c.*1664A>G
|
rs886047713
|
|
NM_001558.4(IL10RA):c.*328G>C
|
rs753647542
|
|
NM_001558.4(IL10RA):c.*846T>A
|
rs2058089031
|
|
NM_001558.4(IL10RA):c.*872G>A
|
rs1591267794
|
|
NM_001558.4(IL10RA):c.-65C>T
|
rs2057985368
|
|
NM_001558.4(IL10RA):c.1707C>T (p.Pro569=)
|
rs2058080759
|
|
NM_001558.4(IL10RA):c.25C>T (p.Leu9=)
|
rs886047706
|
|
NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter)
|
rs886047709
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+11G>C
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
NM_001710.5(CFB):c.-199T>C
|
rs1771399314
|
|
NM_001710.6(CFB):c.1524C>A (p.His508Gln)
|
rs138207668
|
|
NM_001710.6(CFB):c.1803G>A (p.Glu601=)
|
rs377025675
|
|
NM_001710.6(CFB):c.1889C>T (p.Ala630Val)
|
rs886061297
|
|
NM_001710.6(CFB):c.2069C>T (p.Ala690Val)
|
rs1403720810
|
|
NM_001710.6(CFB):c.334G>C (p.Gly112Arg)
|
rs950175817
|
|
NM_001710.6(CFB):c.656A>T (p.Gln219Leu)
|
rs886061295
|
|
NM_001770.6(CD19):c.*11G>A
|
rs535901247
|
|
NM_001770.6(CD19):c.*71C>T
|
rs886051888
|
|
NM_001770.6(CD19):c.1580-14C>T
|
rs376505803
|
|
NM_001770.6(CD19):c.17T>G (p.Leu6Arg)
|
rs886051886
|
|
NM_001770.6(CD19):c.246T>C (p.Leu82=)
|
rs1964665391
|
|
NM_001770.6(CD19):c.530G>C (p.Arg177Thr)
|
rs1567504893
|
|
NM_001770.6(CD19):c.61G>C (p.Glu21Gln)
|
rs771929657
|
|
NM_001814.6(CTSC):c.*350A>G
|
rs1944265493
|
|
NM_001814.6(CTSC):c.*414A>G
|
rs953848453
|
|
NM_001814.6(CTSC):c.-23C>G
|
rs886048743
|
|
NM_001814.6(CTSC):c.-55C>T
|
|
|
NM_001814.6(CTSC):c.-7C>A
|
rs770352776
|
|
NM_001814.6(CTSC):c.1038C>T (p.His346=)
|
rs1355697311
|
|
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala)
|
rs1197515579
|
|
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)
|
rs886048738
|
|
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys)
|
rs201519830
|
|
NM_001814.6(CTSC):c.173-19dup
|
rs11326739
|
|
NM_001814.6(CTSC):c.173-6del
|
rs372892181
|
|
NM_001814.6(CTSC):c.386T>A (p.Val129Glu)
|
rs760130711
|
|
NM_001814.6(CTSC):c.729C>T (p.Ile243=)
|
rs766063253
|
|
NM_001814.6(CTSC):c.757+6A>T
|
rs886048741
|
|
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly)
|
rs886048740
|
|
NM_001814.6(CTSC):c.954A>G (p.Glu318=)
|
rs886048739
|
|
NM_002185.5(IL7R):c.*1079C>A
|
rs886060538
|
|
NM_002185.5(IL7R):c.*1198G>A
|
rs1760251460
|
|
NM_002185.5(IL7R):c.*1548A>T
|
rs886060539
|
|
NM_002185.5(IL7R):c.*2068T>G
|
rs1332372176
|
|
NM_002185.5(IL7R):c.*2275C>T
|
rs886060541
|
|
NM_002185.5(IL7R):c.*266dup
|
rs202167692
|
|
NM_002185.5(IL7R):c.*3050G>T
|
rs1760300993
|
|
NM_002185.5(IL7R):c.*3112A>G
|
rs1760302344
|
|
NM_002185.5(IL7R):c.*554G>A
|
rs886060533
|
|
NM_002185.5(IL7R):c.*574G>T
|
rs886060534
|
|
NM_002185.5(IL7R):c.*676T>C
|
rs762308822
|
|
NM_002185.5(IL7R):c.*86A>C
|
rs202075594
|
|
NM_002185.5(IL7R):c.1241C>A (p.Thr414Lys)
|
rs2229232
|
|
NM_002185.5(IL7R):c.221+7G>A
|
rs200937717
|
|
NM_002185.5(IL7R):c.359A>T (p.Lys120Ile)
|
rs201710684
|
|
NM_002185.5(IL7R):c.376A>C (p.Ile126Leu)
|
rs201207454
|
|
NM_002185.5(IL7R):c.491T>A (p.Met164Lys)
|
rs771957502
|
|
NM_002185.5(IL7R):c.83-2A>G
|
rs886060531
|
|
NM_002351.5(SH2D1A):c.*1753A>G
|
rs867794698
|
|
NM_002351.5(SH2D1A):c.*759G>C
|
rs1057515763
|
|
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
|
rs2060068721
|
|
NM_002435.3(MPI):c.*103T>C
|
rs2064845890
|
|
NM_002435.3(MPI):c.*129G>C
|
rs80226376
|
|
NM_002435.3(MPI):c.*176G>A
|
rs886051484
|
|
NM_002435.3(MPI):c.*203G>A
|
rs562995056
|
|
NM_002435.3(MPI):c.*205G>T
|
rs2064847544
|
|
NM_002435.3(MPI):c.*393G>A
|
rs886051485
|
|
NM_002435.3(MPI):c.1032C>G (p.Asp344Glu)
|
rs2064831979
|
|
NM_002435.3(MPI):c.1069A>G (p.Thr357Ala)
|
rs2064840019
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
NM_002435.3(MPI):c.445T>C (p.Cys149Arg)
|
rs2064746068
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002435.3(MPI):c.695A>G (p.Asp232Gly)
|
rs765912695
|
|
NM_002435.3(MPI):c.793G>A (p.Gly265Arg)
|
rs2064817105
|
|
NM_002524.4(NRAS):c.-132C>T
|
rs886045109
|
|
NM_002524.4(NRAS):c.-209A>G
|
rs886045111
|
|
NM_002524.4(NRAS):c.-242G>C
|
rs886045112
|
|
NM_002524.4(NRAS):c.-245C>T
|
rs886045113
|
|
NM_002524.5(NRAS):c.*1062_*1063del
|
rs775070295
|
|
NM_002524.5(NRAS):c.*1105C>T
|
rs1658933470
|
|
NM_002524.5(NRAS):c.*1382G>T
|
rs886045105
|
|
NM_002524.5(NRAS):c.*1643G>C
|
rs571329214
|
|
NM_002524.5(NRAS):c.*1656C>T
|
rs886045104
|
|
NM_002524.5(NRAS):c.*1845T>C
|
rs1480696185
|
|
NM_002524.5(NRAS):c.*1887T>C
|
rs1658917145
|
|
NM_002524.5(NRAS):c.*1936C>G
|
rs1658915425
|
|
NM_002524.5(NRAS):c.*2178G>A
|
rs886045103
|
|
NM_002524.5(NRAS):c.*2226G>C
|
rs1658900816
|
|
NM_002524.5(NRAS):c.*2328G>A
|
rs1201037392
|
|
NM_002524.5(NRAS):c.*2412G>A
|
rs757692247
|
|
NM_002524.5(NRAS):c.*2589G>A
|
rs556142436
|
|
NM_002524.5(NRAS):c.*2677A>T
|
rs886045101
|
|
NM_002524.5(NRAS):c.*2714G>T
|
rs886045100
|
|
NM_002524.5(NRAS):c.*2811C>A
|
rs1658883840
|
|
NM_002524.5(NRAS):c.*2860G>A
|
rs886045099
|
|
NM_002524.5(NRAS):c.*3020A>G
|
rs550638204
|
|
NM_002524.5(NRAS):c.*3362T>C
|
rs577115849
|
|
NM_002524.5(NRAS):c.*3392T>C
|
rs886045097
|
|
NM_002524.5(NRAS):c.*3430T>A
|
rs539638523
|
|
NM_002524.5(NRAS):c.*935dup
|
rs886045106
|
|
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
|
rs1659097188
|
|
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg)
|
rs779899354
|
|
NM_002693.3(POLG):c.*49G>A
|
rs758880377
|
|
NM_002693.3(POLG):c.3644-178_3644-176dup
|
rs1555452148
|
|
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)
|
rs144346886
|
|
NM_002755.4(MAP2K1):c.*917del
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.*917dup
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002834.3(PTPN11):c.-291G>A
|
rs997562896
|
|
NM_002834.3(PTPN11):c.-317C>G
|
rs373537430
|
|
NM_002834.4(PTPN11):c.-176G>T
|
rs919391557
|
|
NM_002834.4(PTPN11):c.-179G>C
|
rs545369072
|
|
NM_002834.5(PTPN11):c.*1015C>G
|
rs538946251
|
|
NM_002834.5(PTPN11):c.*1035A>G
|
rs886048970
|
|
NM_002834.5(PTPN11):c.*1157ATG[13]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1157ATG[16]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1157ATG[17]
|
rs80269561
|
|
NM_002834.5(PTPN11):c.*1536T>G
|
rs371375321
|
|
NM_002834.5(PTPN11):c.*1729A>G
|
rs886048975
|
|
NM_002834.5(PTPN11):c.*1946G>A
|
rs886048976
|
|
NM_002834.5(PTPN11):c.*2822A>G
|
rs1164863703
|
|
NM_002834.5(PTPN11):c.*3244A>G
|
rs763237386
|
|
NM_002834.5(PTPN11):c.*41_*46del
|
rs886048967
|
|
NM_002834.5(PTPN11):c.*656del
|
rs886048968
|
|
NM_002834.5(PTPN11):c.*673G>A
|
rs2038937189
|
|
NM_002834.5(PTPN11):c.*684G>A
|
rs1566194466
|
|
NM_002834.5(PTPN11):c.-139G>A
|
rs886048964
|
|
NM_002834.5(PTPN11):c.-151C>A
|
rs889190246
|
|
NM_002834.5(PTPN11):c.-161T>A
|
rs893158717
|
|
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)
|
rs532529560
|
|
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)
|
rs1566185599
|
|
NM_002834.5(PTPN11):c.14+8G>T
|
rs886048965
|
|
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
|
|
|
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)
|
rs587778635
|
|
NM_002834.5(PTPN11):c.853+8T>C
|
rs886048966
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
NM_002880.4(RAF1):c.*120C>A
|
rs1575528605
|
|
NM_002880.4(RAF1):c.*162T>C
|
rs886057913
|
|
NM_002880.4(RAF1):c.*628G>T
|
rs374944110
|
|
NM_002880.4(RAF1):c.*640T>C
|
rs759464247
|
|
NM_002880.4(RAF1):c.*729AACA[4]
|
rs371820097
|
|
NM_002880.4(RAF1):c.*729AACA[6]
|
rs371820097
|
|
NM_002880.4(RAF1):c.*840A>T
|
rs2058212896
|
|
NM_002880.4(RAF1):c.*841C>T
|
rs1461713213
|
|
NM_002880.4(RAF1):c.-107C>T
|
rs1451879607
|
|
NM_002880.4(RAF1):c.-139T>G
|
rs886057918
|
|
NM_002880.4(RAF1):c.-146C>G
|
rs886057919
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-59C>G
|
rs201603517
|
|
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr)
|
rs747632183
|
|
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
|
|
|
NM_002880.4(RAF1):c.21T>C (p.Ala7=)
|
rs886057915
|
|
NM_002880.4(RAF1):c.231C>T (p.Ser77=)
|
rs1450510914
|
|
NM_002880.4(RAF1):c.843T>A (p.Ile281=)
|
rs2058826353
|
|
NM_003331.5(TYK2):c.*261C>A
|
rs1313565853
|
|
NM_003331.5(TYK2):c.*63G>A
|
rs185435731
|
|
NM_003331.5(TYK2):c.-154A>G
|
rs2042302135
|
|
NM_003331.5(TYK2):c.-23C>T
|
rs886054135
|
|
NM_003331.5(TYK2):c.-328T>G
|
rs886054136
|
|
NM_003331.5(TYK2):c.-369C>T
|
rs886054137
|
|
NM_003331.5(TYK2):c.-9G>A
|
rs2042248932
|
|
NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp)
|
rs886054133
|
|
NM_003331.5(TYK2):c.1011+12G>A
|
rs377517686
|
|
NM_003331.5(TYK2):c.124C>A (p.Pro42Thr)
|
rs147251502
|
|
NM_003331.5(TYK2):c.1489A>C (p.Met497Leu)
|
rs751952281
|
|
NM_003331.5(TYK2):c.1669+12G>A
|
rs2041444641
|
|
NM_003331.5(TYK2):c.2023G>A (p.Gly675Ser)
|
rs2041401700
|
|
NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro)
|
rs200247986
|
|
NM_003331.5(TYK2):c.2558C>G (p.Pro853Arg)
|
rs551747806
|
|
NM_003331.5(TYK2):c.2618-14C>G
|
rs532521303
|
|
NM_003331.5(TYK2):c.2715+9C>T
|
rs886054132
|
|
NM_003331.5(TYK2):c.2716-13C>A
|
rs370899700
|
|
NM_003331.5(TYK2):c.3200+11G>A
|
rs2040885202
|
|
NM_003331.5(TYK2):c.3236A>G (p.Tyr1079Cys)
|
rs2040862596
|
|
NM_003331.5(TYK2):c.498A>G (p.Ser166=)
|
rs969593614
|
|
NM_003331.5(TYK2):c.737A>G (p.Gln246Arg)
|
rs886054134
|
|
NM_003331.5(TYK2):c.975G>T (p.Gln325His)
|
rs762767796
|
|
NM_003664.4(AP3B1):c.-126C>G
|
rs760008097
|
|
NM_003664.5(AP3B1):c.*191C>G
|
rs6864605
|
|
NM_003664.5(AP3B1):c.*380G>A
|
rs911081557
|
|
NM_003664.5(AP3B1):c.*380G>C
|
rs911081557
|
|
NM_003664.5(AP3B1):c.-115G>A
|
rs886060776
|
|
NM_003664.5(AP3B1):c.-83G>C
|
rs774869942
|
|
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
|
rs757985695
|
|
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
|
rs1743584840
|
|
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
|
rs954170484
|
|
NM_003664.5(AP3B1):c.1392T>G (p.Val464=)
|
rs886060774
|
|
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
|
rs1752586022
|
|
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)
|
rs749489841
|
|
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe)
|
rs886060773
|
|
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn)
|
rs886060772
|
|
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
|
rs532221135
|
|
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly)
|
rs886060771
|
|
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro)
|
rs1002296977
|
|
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)
|
rs886060770
|
|
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
|
rs1397315776
|
|
NM_003664.5(AP3B1):c.720G>A (p.Gly240=)
|
rs886060775
|
|
NM_003664.5(AP3B1):c.786+6T>A
|
rs1332793203
|
|
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
|
rs1744368521
|
|
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val)
|
rs758789954
|
|
NM_003721.3(RFXANK):c.-495C>G
|
rs886054308
|
|
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg)
|
rs2060615482
|
|
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe)
|
rs2060623718
|
|
NM_003764.4(STX11):c.*1141T>G
|
rs886061146
|
|
NM_003764.4(STX11):c.*1213T>C
|
rs1802132918
|
|
NM_003764.4(STX11):c.*1221dup
|
rs397725572
|
|
NM_003764.4(STX11):c.*1251_*1253dup
|
rs11356106
|
|
NM_003764.4(STX11):c.*1253dup
|
rs11356106
|
|
NM_003764.4(STX11):c.*1254del
|
rs886061148
|
|
NM_003764.4(STX11):c.*1426G>A
|
rs1462257110
|
|
NM_003764.4(STX11):c.*1469T>G
|
rs1802143574
|
|
NM_003764.4(STX11):c.*1704G>T
|
rs548084247
|
|
NM_003764.4(STX11):c.*1832A>G
|
rs1418103446
|
|
NM_003764.4(STX11):c.*1846T>C
|
rs902576351
|
|
NM_003764.4(STX11):c.*2014del
|
rs886061151
|
|
NM_003764.4(STX11):c.*2157GAG[1]
|
rs886061152
|
|
NM_003764.4(STX11):c.*2252T>C
|
rs1802167033
|
|
NM_003764.4(STX11):c.*2657TTC[2]
|
rs886061154
|
|
NM_003764.4(STX11):c.*2665C>G
|
rs1802179710
|
|
NM_003764.4(STX11):c.*2700G>T
|
rs924176810
|
|
NM_003764.4(STX11):c.*2758T>A
|
rs1802181416
|
|
NM_003764.4(STX11):c.*2899C>G
|
rs1802185074
|
|
NM_003764.4(STX11):c.*2982T>A
|
rs886061156
|
|
NM_003764.4(STX11):c.*2A>T
|
rs886061142
|
|
NM_003764.4(STX11):c.*3103_*3104del
|
rs558797705
|
|
NM_003764.4(STX11):c.*3104del
|
rs558797705
|
|
NM_003764.4(STX11):c.*3104dup
|
rs558797705
|
|
NM_003764.4(STX11):c.*3214C>T
|
rs11963744
|
|
NM_003764.4(STX11):c.*3336T>C
|
rs886061161
|
|
NM_003764.4(STX11):c.*3591C>G
|
rs568384074
|
|
NM_003764.4(STX11):c.*3705C>G
|
rs539160664
|
|
NM_003764.4(STX11):c.*4053_*4054dup
|
rs397795966
|
|
NM_003764.4(STX11):c.*770C>T
|
rs886061144
|
|
NM_003764.4(STX11):c.*939_*942del
|
rs886061145
|
|
NM_003764.4(STX11):c.-125C>G
|
rs1055093473
|
|
NM_003764.4(STX11):c.-71C>T
|
rs886061140
|
|
NM_003764.4(STX11):c.214T>C (p.Phe72Leu)
|
rs764192301
|
|
NM_003764.4(STX11):c.221C>T (p.Thr74Met)
|
rs540150447
|
|
NM_003764.4(STX11):c.24_26del (p.Leu9del)
|
rs760492745
|
|
NM_003764.4(STX11):c.264C>T (p.Ser88=)
|
rs774895225
|
|
NM_003764.4(STX11):c.427A>G (p.Met143Val)
|
rs776931152
|
|
NM_003764.4(STX11):c.63C>T (p.Asp21=)
|
rs149176821
|
|
NM_003839.4(TNFRSF11A):c.*1178T>C
|
rs1338926671
|
|
NM_003839.4(TNFRSF11A):c.*1211C>G
|
rs1233818667
|
|
NM_003839.4(TNFRSF11A):c.*1301G>A
|
rs45607736
|
|
NM_003839.4(TNFRSF11A):c.*1416C>T
|
rs564830684
|
|
NM_003839.4(TNFRSF11A):c.*2289G>A
|
rs1439582614
|
|
NM_003839.4(TNFRSF11A):c.*320G>C
|
rs368158690
|
|
NM_003839.4(TNFRSF11A):c.*454T>G
|
rs886054090
|
|
NM_003839.4(TNFRSF11A):c.*464T>A
|
rs1911661759
|
|
NM_003839.4(TNFRSF11A):c.*502G>T
|
rs1018177597
|
|
NM_003839.4(TNFRSF11A):c.*556A>G
|
rs886054092
|
|
NM_003839.4(TNFRSF11A):c.*625A>C
|
rs1258163731
|
|
NM_003839.4(TNFRSF11A):c.*751C>T
|
rs886054097
|
|
NM_003839.4(TNFRSF11A):c.*811T>C
|
rs886054098
|
|
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=)
|
rs1910368771
|
|
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro)
|
rs1911609900
|
|
NM_003839.4(TNFRSF11A):c.284-4G>A
|
rs761709562
|
|
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys)
|
rs867372893
|
|
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg)
|
rs886054084
|
|
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln)
|
rs886054083
|
|
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser)
|
rs1249788220
|
|
NM_003978.5(PSTPIP1):c.*123T>C
|
rs886051494
|
|
NM_003978.5(PSTPIP1):c.*98C>G
|
rs1264249832
|
|
NM_003978.5(PSTPIP1):c.-280GCTGG[3]
|
rs886051491
|
|
NM_003978.5(PSTPIP1):c.-367G>A
|
rs886051490
|
|
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu)
|
rs768897476
|
|
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln)
|
rs2076601376
|
|
NM_003978.5(PSTPIP1):c.418-4_418-3del
|
rs749862420
|
|
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp)
|
rs574957138
|
|
NM_003998.4(NFKB1):c.724G>C (p.Asp242His)
|
rs2149184850
|
|
NM_004333.6(BRAF):c.*143A>G
|
rs1585929994
|
|
NM_004333.6(BRAF):c.*203A>G
|
rs1796208696
|
|
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)
|
rs1398817791
|
|
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)
|
rs151308995
|
|
NM_004333.6(BRAF):c.1569A>G (p.Pro523=)
|
rs759843625
|
|
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly)
|
rs1797600118
|
|
NM_004333.6(BRAF):c.2128-16_2128-15del
|
rs886062015
|
|
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT
|
rs886062016
|
|
NM_004333.6(BRAF):c.2128-28dup
|
rs60814637
|
|
NM_004333.6(BRAF):c.2128-4del
|
rs886062014
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004333.6(BRAF):c.469G>A (p.Val157Ile)
|
rs1258111302
|
|
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)
|
rs1803936771
|
|
NM_004629.2(FANCG):c.*77C>T
|
rs1829028329
|
|
NM_004629.2(FANCG):c.-182del
|
rs886063899
|
|
NM_004629.2(FANCG):c.1002A>T (p.Leu334=)
|
rs984958735
|
|
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu)
|
rs1829085768
|
|
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)
|
rs1487531031
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)
|
rs1829066600
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_004895.4(NLRP3):c.*324_*327delGTCT
|
rs886506882
|
|
NM_004895.4(NLRP3):c.*328_*331delAACT
|
rs1057515460
|
|
NM_004895.4(NLRP3):c.*378A>C
|
rs1664772078
|
|
NM_004985.5(KRAS):c.-176CGG[4]
|
rs886049200
|
|
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys)
|
rs749871179
|
|
NM_005045.4(RELN):c.*135C>T
|
rs1015535811
|
|
NM_005045.4(RELN):c.*374G>C
|
rs577560786
|
|
NM_005045.4(RELN):c.*526A>G
|
rs775372107
|
|
NM_005045.4(RELN):c.*857T>C
|
rs1827874321
|
|
NM_005045.4(RELN):c.*94T>C
|
rs1385040041
|
|
NM_005045.4(RELN):c.-35G>C
|
rs746380201
|
|
NM_005045.4(RELN):c.1011A>T (p.Glu337Asp)
|
rs886061861
|
|
NM_005045.4(RELN):c.10173T>C (p.Asn3391=)
|
rs1261008609
|
|
NM_005045.4(RELN):c.1045T>C (p.Leu349=)
|
rs777083831
|
|
NM_005045.4(RELN):c.1171A>G (p.Ile391Val)
|
rs886061860
|
|
NM_005045.4(RELN):c.1790A>G (p.His597Arg)
|
rs886061859
|
|
NM_005045.4(RELN):c.223C>T (p.His75Tyr)
|
rs555377051
|
|
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln)
|
rs1294568040
|
|
NM_005045.4(RELN):c.2304-13A>T
|
rs774202843
|
|
NM_005045.4(RELN):c.2549G>C (p.Arg850Thr)
|
rs1832418506
|
|
NM_005045.4(RELN):c.2992C>G (p.Leu998Val)
|
rs201003473
|
|
NM_005045.4(RELN):c.337+11C>A
|
rs771085561
|
|
NM_005045.4(RELN):c.3670C>G (p.Gln1224Glu)
|
rs549360134
|
|
NM_005045.4(RELN):c.3798T>C (p.Asn1266=)
|
rs1831475858
|
|
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp)
|
rs1831365750
|
|
NM_005045.4(RELN):c.4220A>G (p.Tyr1407Cys)
|
rs1830980709
|
|
NM_005045.4(RELN):c.4308A>G (p.Ala1436=)
|
rs886061858
|
|
NM_005045.4(RELN):c.4466G>A (p.Gly1489Glu)
|
rs886061857
|
|
NM_005045.4(RELN):c.4731G>T (p.Trp1577Cys)
|
rs1830758203
|
|
NM_005045.4(RELN):c.5306C>G (p.Pro1769Arg)
|
rs1830649453
|
|
NM_005045.4(RELN):c.545-15C>A
|
rs886061862
|
|
NM_005045.4(RELN):c.5797+11A>G
|
rs765957925
|
|
NM_005045.4(RELN):c.6082G>A (p.Gly2028Ser)
|
rs886061855
|
|
NM_005045.4(RELN):c.6201T>C (p.Ser2067=)
|
rs1830401696
|
|
NM_005045.4(RELN):c.6787G>C (p.Glu2263Gln)
|
rs1830150596
|
|
NM_005045.4(RELN):c.6899G>A (p.Gly2300Glu)
|
rs1830147556
|
|
NM_005045.4(RELN):c.7188A>G (p.Glu2396=)
|
rs776781331
|
|
NM_005045.4(RELN):c.7547C>A (p.Thr2516Asn)
|
rs1829722766
|
|
NM_005045.4(RELN):c.792C>A (p.Leu264=)
|
rs1172120788
|
|
NM_005045.4(RELN):c.8673C>T (p.Phe2891=)
|
rs200157006
|
|
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu)
|
rs1465519249
|
|
NM_005045.4(RELN):c.8888C>A (p.Thr2963Asn)
|
rs200781285
|
|
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala)
|
rs1828849563
|
|
NM_005045.4(RELN):c.9129G>C (p.Leu3043=)
|
rs1828848339
|
|
NM_005045.4(RELN):c.9681T>C (p.Ile3227=)
|
rs1236487874
|
|
NM_005251.3(FOXC2):c.529_531del (p.Lys177del)
|
|
|
NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)
|
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[16]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[17]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[20]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[22]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[23]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[25]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT
|
rs766365921
|
|
NM_005546.4(ITK):c.*1132A>T
|
rs771492029
|
|
NM_005546.4(ITK):c.*1152G>T
|
rs1755198244
|
|
NM_005546.4(ITK):c.*1154T>A
|
rs886060330
|
|
NM_005546.4(ITK):c.*1171G>C
|
rs886060331
|
|
NM_005546.4(ITK):c.*1252A>G
|
rs761944107
|
|
NM_005546.4(ITK):c.*1755T>C
|
rs886060332
|
|
NM_005546.4(ITK):c.*1928G>A
|
rs886060334
|
|
NM_005546.4(ITK):c.*214A>C
|
rs1755171843
|
|
NM_005546.4(ITK):c.*553C>T
|
rs893121882
|
|
NM_005546.4(ITK):c.*706G>C
|
rs886060329
|
|
NM_005546.4(ITK):c.*941C>T
|
rs3892245
|
|
NM_005546.4(ITK):c.*944C>T
|
rs370820165
|
|
NM_005546.4(ITK):c.1039G>A (p.Val347Ile)
|
rs886060326
|
|
NM_005546.4(ITK):c.1090A>G (p.Thr364Ala)
|
rs1754959182
|
|
NM_005546.4(ITK):c.1177A>G (p.Ile393Val)
|
rs1754961162
|
|
NM_005546.4(ITK):c.146G>A (p.Arg49His)
|
rs762768477
|
|
NM_005546.4(ITK):c.150G>A (p.Thr50=)
|
rs61743239
|
|
NM_005546.4(ITK):c.396C>T (p.Cys132=)
|
rs1459993484
|
|
NM_005546.4(ITK):c.529A>G (p.Ile177Val)
|
rs1754451258
|
|
NM_005546.4(ITK):c.571G>A (p.Ala191Thr)
|
rs534229766
|
|
NM_005546.4(ITK):c.622TGG[1] (p.Trp209del)
|
rs757871566
|
|
NM_005633.4(SOS1):c.*1049G>T
|
rs992013519
|
|
NM_005633.4(SOS1):c.*1090TTTG[1]
|
rs886056016
|
|
NM_005633.4(SOS1):c.*110C>A
|
rs1668534690
|
|
NM_005633.4(SOS1):c.*1224A>G
|
rs886056015
|
|
NM_005633.4(SOS1):c.*1396G>T
|
rs974302565
|
|
NM_005633.4(SOS1):c.*1412A>G
|
rs1668490693
|
|
NM_005633.4(SOS1):c.*1535G>A
|
rs1668487434
|
|
NM_005633.4(SOS1):c.*1589T>G
|
rs886056014
|
|
NM_005633.4(SOS1):c.*1678C>A
|
rs886056013
|
|
NM_005633.4(SOS1):c.*1694del
|
rs767903412
|
|
NM_005633.4(SOS1):c.*1998G>T
|
rs1285805260
|
|
NM_005633.4(SOS1):c.*2048_*2050dup
|
rs761591990
|
|
NM_005633.4(SOS1):c.*2063_*2066dup
|
rs886056011
|
|
NM_005633.4(SOS1):c.*218T>G
|
rs1258255790
|
|
NM_005633.4(SOS1):c.*21A>G
|
rs532419541
|
|
NM_005633.4(SOS1):c.*2208dup
|
rs886056010
|
|
NM_005633.4(SOS1):c.*2246A>T
|
rs1668462557
|
|
NM_005633.4(SOS1):c.*2257C>G
|
rs1020523755
|
|
NM_005633.4(SOS1):c.*2512C>A
|
rs1239076061
|
|
NM_005633.4(SOS1):c.*2893C>A
|
rs1668445130
|
|
NM_005633.4(SOS1):c.*298C>G
|
rs886056021
|
|
NM_005633.4(SOS1):c.*3149C>T
|
rs541644361
|
|
NM_005633.4(SOS1):c.*3158T>C
|
rs913024422
|
|
NM_005633.4(SOS1):c.*3189_*3192del
|
rs572584074
|
|
NM_005633.4(SOS1):c.*3230T>C
|
rs1572793043
|
|
NM_005633.4(SOS1):c.*3291C>T
|
rs748136708
|
|
NM_005633.4(SOS1):c.*3326T>C
|
rs1668433787
|
|
NM_005633.4(SOS1):c.*3463A>G
|
rs886056006
|
|
NM_005633.4(SOS1):c.*3566_*3568del
|
rs886056005
|
|
NM_005633.4(SOS1):c.*3750T>C
|
rs1034733063
|
|
NM_005633.4(SOS1):c.*3811T>C
|
rs1297949357
|
|
NM_005633.4(SOS1):c.*4077G>T
|
rs763838346
|
|
NM_005633.4(SOS1):c.*408C>T
|
rs1572795423
|
|
NM_005633.4(SOS1):c.*4110C>A
|
rs886056003
|
|
NM_005633.4(SOS1):c.*483A>C
|
rs1668521466
|
|
NM_005633.4(SOS1):c.*696G>A
|
rs886056018
|
|
NM_005633.4(SOS1):c.*766del
|
rs533720751
|
|
NM_005633.4(SOS1):c.*855G>A
|
rs886056017
|
|
NM_005633.4(SOS1):c.*909G>A
|
rs147219108
|
|
NM_005633.4(SOS1):c.1019C>A (p.Pro340His)
|
rs1367541617
|
|
NM_005633.4(SOS1):c.1659G>A (p.Met553Ile)
|
rs886056025
|
|
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile)
|
rs757341897
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005633.4(SOS1):c.225A>G (p.Gln75=)
|
rs560037748
|
|
NM_005633.4(SOS1):c.2674-7C>T
|
rs1015610936
|
|
NM_005633.4(SOS1):c.2789T>C (p.Phe930Ser)
|
rs886056024
|
|
NM_005633.4(SOS1):c.3624T>C (p.Pro1208=)
|
rs763107563
|
|
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met)
|
rs776814547
|
|
NM_005633.4(SOS1):c.3793T>G (p.Ser1265Ala)
|
rs886056023
|
|
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu)
|
rs886056026
|
|
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)
|
rs889231089
|
|
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp)
|
rs1671008499
|
|
NM_005914.3(MCM4):c.-320dup
|
rs532945813
|
|
NM_005914.3(MCM4):c.-646delG
|
rs376290735
|
|
NM_005914.3(MCM4):c.-701C>A
|
rs886062968
|
|
NM_006118.3(HAX1):c.-150A>T
|
rs544123058
|
|
NM_006118.4(HAX1):c.*1C>G
|
rs747961567
|
|
NM_006118.4(HAX1):c.*80C>T
|
rs912619566
|
|
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)
|
rs761500862
|
|
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp)
|
rs1684906279
|
|
NM_006118.4(HAX1):c.659A>T (p.Asp220Val)
|
rs1684907371
|
|
NM_006118.4(HAX1):c.677G>A (p.Arg226His)
|
rs750920845
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
NM_006206.5(PDGFRA):c.-284G>T
|
rs145549583
|
|
NM_006206.6(PDGFRA):c.*1039A>G
|
rs981481475
|
|
NM_006206.6(PDGFRA):c.*1050C>T
|
rs1560497216
|
|
NM_006206.6(PDGFRA):c.*1109_*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1112_*1113del
|
rs886059456
|
|
NM_006206.6(PDGFRA):c.*1133T>C
|
rs1577757730
|
|
NM_006206.6(PDGFRA):c.*1821A>C
|
rs187821520
|
|
NM_006206.6(PDGFRA):c.*2226C>A
|
rs556595868
|
|
NM_006206.6(PDGFRA):c.*2281C>A
|
rs1724934694
|
|
NM_006206.6(PDGFRA):c.*2494C>A
|
rs886059461
|
|
NM_006206.6(PDGFRA):c.*2856A>G
|
rs886059463
|
|
NM_006206.6(PDGFRA):c.*374A>T
|
rs3690
|
|
NM_006206.6(PDGFRA):c.*574_*575del
|
rs886059451
|
|
NM_006206.6(PDGFRA):c.*590C>A
|
rs993682652
|
|
NM_006206.6(PDGFRA):c.*791A>T
|
rs1724865504
|
|
NM_006206.6(PDGFRA):c.*970CAAA[1]
|
rs757111915
|
|
NM_006206.6(PDGFRA):c.*998C>G
|
rs1006360272
|
|
NM_006206.6(PDGFRA):c.1365-12T>C
|
rs886059445
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro)
|
rs1723641220
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn)
|
rs1723832515
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
NM_006206.6(PDGFRA):c.2674+6G>A
|
rs886059448
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=)
|
rs886059444
|
|
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala)
|
rs878854837
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006397.3(RNASEH2A):c.*69G>A
|
rs969808573
|
|
NM_006397.3(RNASEH2A):c.*93A>G
|
rs528209678
|
|
NM_006397.3(RNASEH2A):c.-69G>A
|
rs1968991813
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg)
|
rs748699424
|
|
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)
|
rs377244188
|
|
NM_006432.4(NPC2):c.-68G>T
|
rs578161135
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
NM_006610.4(MASP2):c.*111C>T
|
rs886045052
|
|
NM_006610.4(MASP2):c.*220A>G
|
rs1643737115
|
|
NM_006610.4(MASP2):c.*282C>A
|
rs375230404
|
|
NM_006610.4(MASP2):c.*64C>T
|
rs1011130298
|
|
NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp)
|
rs1643830509
|
|
NM_006610.4(MASP2):c.1231G>A (p.Val411Met)
|
rs367583731
|
|
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr)
|
rs1643757459
|
|
NM_006610.4(MASP2):c.1590C>T (p.Asp530=)
|
rs886045053
|
|
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser)
|
rs1236065829
|
|
NM_006610.4(MASP2):c.223G>A (p.Asp75Asn)
|
rs759383807
|
|
NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)
|
rs148831269
|
|
NM_006610.4(MASP2):c.277G>C (p.Glu93Gln)
|
rs747767865
|
|
NM_006610.4(MASP2):c.437C>T (p.Pro146Leu)
|
rs1411989082
|
|
NM_006610.4(MASP2):c.612G>T (p.Pro204=)
|
rs72550853
|
|
NM_006610.4(MASP2):c.808A>C (p.Lys270Gln)
|
rs886045054
|
|
NM_006610.4(MASP2):c.93A>T (p.Ala31=)
|
rs886045055
|
|
NM_006767.4(LZTR1):c.404G>T (p.Gly135Val)
|
rs1425031926
|
|
NM_006846.4(SPINK5):c.-10C>T
|
rs778902700
|
|
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
|
rs1266893770
|
|
NM_006846.4(SPINK5):c.1605G>A (p.Val535=)
|
rs201831966
|
|
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs)
|
rs1561693720
|
|
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
|
rs770045852
|
|
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
|
rs1754030459
|
|
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
|
rs1398660016
|
|
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp)
|
rs778017808
|
|
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
|
rs1452834406
|
|
NM_006846.4(SPINK5):c.2666+4C>T
|
rs376671081
|
|
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
|
rs1483638724
|
|
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
|
rs192473184
|
|
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
|
rs535512727
|
|
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys)
|
rs371290967
|
|
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
|
rs755830397
|
|
NM_006929.4(SKIC2):c.-193A>C
|
rs886061302
|
|
NM_006929.4(SKIC2):c.-269T>C
|
rs886061299
|
|
NM_006929.5(SKIC2):c.-14G>A
|
rs886061304
|
|
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile)
|
rs886061307
|
|
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr)
|
rs1772553546
|
|
NM_006929.5(SKIC2):c.132C>T (p.Pro44=)
|
rs886061306
|
|
NM_006929.5(SKIC2):c.1566G>A (p.Val522=)
|
rs1772631304
|
|
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp)
|
rs148748996
|
|
NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys)
|
rs775680687
|
|
NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser)
|
rs886061308
|
|
NM_006929.5(SKIC2):c.2052C>G (p.His684Gln)
|
rs61761946
|
|
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr)
|
rs762436773
|
|
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys)
|
rs148221996
|
|
NM_006929.5(SKIC2):c.2479-7T>C
|
rs190972540
|
|
NM_006929.5(SKIC2):c.2731+14A>C
|
rs1772908176
|
|
NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu)
|
rs747936095
|
|
NM_006929.5(SKIC2):c.354+15G>T
|
rs755363139
|
|
NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs)
|
rs1554292539
|
|
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
|
|
|
NM_006939.4(SOS2):c.680C>A (p.Ala227Asp)
|
rs756565236
|
|
NM_006947.4(SRP72):c.*1227_*1232del
|
rs886059502
|
|
NM_006947.4(SRP72):c.*125GT[1]
|
rs886059498
|
|
NM_006947.4(SRP72):c.*142A>G
|
rs878964615
|
|
NM_006947.4(SRP72):c.*1769T>G
|
rs886059504
|
|
NM_006947.4(SRP72):c.*407T>C
|
rs541665813
|
|
NM_006947.4(SRP72):c.*606AT[10]
|
rs201131530
|
|
NM_006947.4(SRP72):c.*633T>C
|
rs867120149
|
|
NM_006947.4(SRP72):c.*637TA[11]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[7]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[9]
|
rs35852754
|
|
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
|
rs1721270142
|
|
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
|
rs772592244
|
|
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)
|
rs1040868057
|
|
NM_006949.4(STXBP2):c.*7G>T
|
rs886054706
|
|
NM_006949.4(STXBP2):c.1027-11G>C
|
rs2031964890
|
|
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)
|
rs755758613
|
|
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu)
|
rs150174842
|
|
NM_006949.4(STXBP2):c.145G>C (p.Asp49His)
|
rs886054701
|
|
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile)
|
rs377248327
|
|
NM_006949.4(STXBP2):c.14G>A (p.Gly5Glu)
|
rs886054700
|
|
NM_006949.4(STXBP2):c.1502A>C (p.Asp501Ala)
|
rs1568471865
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr)
|
rs886054705
|
|
NM_006949.4(STXBP2):c.270C>T (p.Asp90=)
|
rs886054702
|
|
NM_006949.4(STXBP2):c.578+11dup
|
rs886054704
|
|
NM_006949.4(STXBP2):c.795-14T>G
|
rs1222017211
|
|
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg)
|
rs187320742
|
|
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg)
|
rs1347113886
|
|
NM_012092.4(ICOS):c.*1025A>T
|
rs77882417
|
|
NM_012092.4(ICOS):c.*1093C>T
|
rs886055499
|
|
NM_012092.4(ICOS):c.*1172G>A
|
rs1581609062
|
|
NM_012092.4(ICOS):c.*1901A>G
|
rs1690178448
|
|
NM_012092.4(ICOS):c.*474G>T
|
rs558652067
|
|
NM_012092.4(ICOS):c.*977T>G
|
rs886055498
|
|
NM_012092.4(ICOS):c.184C>T (p.Leu62Phe)
|
rs886055496
|
|
NM_012092.4(ICOS):c.495A>C (p.Thr165=)
|
rs565719501
|
|
NM_012275.3(IL36RN):c.*1051T>C
|
rs886054769
|
|
NM_012275.3(IL36RN):c.*106G>A
|
rs182598494
|
|
NM_012275.3(IL36RN):c.*1405G>T
|
rs1315608540
|
|
NM_012275.3(IL36RN):c.*1641C>G
|
rs549754573
|
|
NM_012275.3(IL36RN):c.*1698G>A
|
rs1379624001
|
|
NM_012275.3(IL36RN):c.*1942C>G
|
rs886054772
|
|
NM_012275.3(IL36RN):c.*298G>A
|
rs1685673604
|
|
NM_012275.3(IL36RN):c.*401A>C
|
rs3180234
|
|
NM_012275.3(IL36RN):c.*720G>T
|
rs771527648
|
|
NM_012275.3(IL36RN):c.*857A>G
|
rs886054768
|
|
NM_012275.3(IL36RN):c.*866G>A
|
rs1685687215
|
|
NM_012275.3(IL36RN):c.-47G>A
|
rs886054765
|
|
NM_012275.3(IL36RN):c.29+5G>A
|
rs1685595922
|
|
NM_012275.3(IL36RN):c.30-14T>A
|
rs886054766
|
|
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser)
|
rs1424377493
|
|
NM_014140.3(SMARCAL1):c.-262C>G
|
rs567657407
|
|
NM_014140.4(SMARCAL1):c.-82T>C
|
rs886055615
|
|
NM_014140.4(SMARCAL1):c.1485+8G>A
|
rs886055617
|
|
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
|
rs1301876154
|
|
NM_014140.4(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter)
|
rs1559140275
|
|
NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser)
|
rs1693565636
|
|
NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His)
|
rs985760536
|
|
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu)
|
rs1693575449
|
|
NM_014140.4(SMARCAL1):c.863-4G>T
|
rs1693689203
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
NM_014339.6(IL17RA):c.-95G>C
|
rs529290465
|
|
NM_014339.7(IL17RA):c.*1085A>C
|
rs2061439839
|
|
NM_014339.7(IL17RA):c.*1161T>G
|
rs541762208
|
|
NM_014339.7(IL17RA):c.*1194C>T
|
rs2061440264
|
|
NM_014339.7(IL17RA):c.*1320A>G
|
rs886057216
|
|
NM_014339.7(IL17RA):c.*1373C>T
|
rs2061441307
|
|
NM_014339.7(IL17RA):c.*1641C>T
|
rs886057218
|
|
NM_014339.7(IL17RA):c.*1826A>G
|
rs886057219
|
|
NM_014339.7(IL17RA):c.*1861G>A
|
rs886057220
|
|
NM_014339.7(IL17RA):c.*211A>G
|
rs886057207
|
|
NM_014339.7(IL17RA):c.*2329G>A
|
rs1056127571
|
|
NM_014339.7(IL17RA):c.*2344C>G
|
rs4563337
|
|
NM_014339.7(IL17RA):c.*2591C>T
|
rs775318044
|
|
NM_014339.7(IL17RA):c.*3024G>A
|
rs1311790630
|
|
NM_014339.7(IL17RA):c.*3058G>C
|
rs570509509
|
|
NM_014339.7(IL17RA):c.*3708G>A
|
rs74634517
|
|
NM_014339.7(IL17RA):c.*3734C>A
|
rs768197387
|
|
NM_014339.7(IL17RA):c.*3913C>G
|
rs11702918
|
|
NM_014339.7(IL17RA):c.*3969G>T
|
rs886057233
|
|
NM_014339.7(IL17RA):c.*3975G>T
|
rs184570264
|
|
NM_014339.7(IL17RA):c.*4667A>G
|
rs2061458764
|
|
NM_014339.7(IL17RA):c.*4791C>T
|
rs986018820
|
|
NM_014339.7(IL17RA):c.*494A>G
|
rs1289621476
|
|
NM_014339.7(IL17RA):c.*5038A>T
|
rs531901217
|
|
NM_014339.7(IL17RA):c.*5050G>A
|
rs886057240
|
|
NM_014339.7(IL17RA):c.*5778A>G
|
rs886057242
|
|
NM_014339.7(IL17RA):c.*5855A>G
|
rs886057243
|
|
NM_014339.7(IL17RA):c.*643A>T
|
rs1194255362
|
|
NM_014339.7(IL17RA):c.-42G>A
|
rs551693587
|
|
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=)
|
rs552425210
|
|
NM_014339.7(IL17RA):c.1316G>A (p.Ser439Asn)
|
rs2061423435
|
|
NM_014339.7(IL17RA):c.1486T>C (p.Phe496Leu)
|
rs886057203
|
|
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=)
|
rs550947413
|
|
NM_014339.7(IL17RA):c.1735G>T (p.Val579Phe)
|
rs750666893
|
|
NM_014339.7(IL17RA):c.1749C>G (p.Asp583Glu)
|
rs770168313
|
|
NM_014339.7(IL17RA):c.1755C>T (p.Phe585=)
|
rs371055145
|
|
NM_014339.7(IL17RA):c.544G>C (p.Val182Leu)
|
rs1312675148
|
|
NM_014339.7(IL17RA):c.598+5C>T
|
rs765670063
|
|
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)
|
rs558799480
|
|
NM_014339.7(IL17RA):c.676G>A (p.Glu226Lys)
|
rs144085995
|
|
NM_014339.7(IL17RA):c.894C>T (p.Ser298=)
|
rs374537654
|
|
NM_014339.7(IL17RA):c.907T>C (p.Cys303Arg)
|
rs2061407304
|
|
NM_015474.4(SAMHD1):c.*711A>C
|
rs886056644
|
|
NM_015474.4(SAMHD1):c.*717G>C
|
rs1990092783
|
|
NM_015474.4(SAMHD1):c.*882T>C
|
rs1990087887
|
|
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)
|
rs886056648
|
|
NM_015474.4(SAMHD1):c.1271-5G>A
|
rs2063399774
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1410+12G>T
|
rs2063398513
|
|
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)
|
rs886056647
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)
|
rs886056649
|
|
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)
|
rs2063480136
|
|
NM_016123.4(IRAK4):c.*1289C>A
|
rs150604439
|
|
NM_016123.4(IRAK4):c.*1306C>T
|
rs770097373
|
|
NM_016123.4(IRAK4):c.*1435T>G
|
rs886049393
|
|
NM_016123.4(IRAK4):c.*1999dup
|
rs886049394
|
|
NM_016123.4(IRAK4):c.*2666G>A
|
rs375914722
|
|
NM_016123.4(IRAK4):c.*2666G>T
|
rs375914722
|
|
NM_016123.4(IRAK4):c.*2826G>A
|
rs1942426512
|
|
NM_016123.4(IRAK4):c.*574C>T
|
rs886049389
|
|
NM_016123.4(IRAK4):c.*81CTT[1]
|
rs886049388
|
|
NM_016123.4(IRAK4):c.-16C>G
|
rs886049384
|
|
NM_016123.4(IRAK4):c.-54G>A
|
rs886049383
|
|
NM_016123.4(IRAK4):c.-5A>G
|
rs1940358230
|
|
NM_016123.4(IRAK4):c.1063A>T (p.Met355Leu)
|
rs142376871
|
|
NM_016123.4(IRAK4):c.1125+8C>G
|
rs1941865228
|
|
NM_016123.4(IRAK4):c.1347+13del
|
rs751119487
|
|
NM_018062.4(FANCL):c.*128G>A
|
rs781556579
|
|
NM_018062.4(FANCL):c.*165A>C
|
rs866675905
|
|
NM_018062.4(FANCL):c.*165A>G
|
rs866675905
|
|
NM_018062.4(FANCL):c.*281C>G
|
rs951671744
|
|
NM_018062.4(FANCL):c.*434A>G
|
rs1395685917
|
|
NM_018062.4(FANCL):c.*447_*450del
|
rs748896681
|
|
NM_018062.4(FANCL):c.*89C>T
|
rs1684780470
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
|
rs1685442755
|
|
NM_018344.6(SLC29A3):c.*11A>C
|
rs776790087
|
|
NM_018344.6(SLC29A3):c.*321C>G
|
rs1847107596
|
|
NM_018344.6(SLC29A3):c.*353C>A
|
rs886047117
|
|
NM_018344.6(SLC29A3):c.*657dup
|
rs564371527
|
|
NM_018344.6(SLC29A3):c.*744G>A
|
rs147202397
|
|
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=)
|
rs1847078623
|
|
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=)
|
rs752027628
|
|
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
|
|
|
NM_018389.4(SLC35C1):c.-678A>G
|
rs886048306
|
|
NM_018389.5(SLC35C1):c.*1426G>A
|
rs886048321
|
|
NM_018389.5(SLC35C1):c.*1582C>T
|
rs189120012
|
|
NM_018389.5(SLC35C1):c.*697G>A
|
rs866682376
|
|
NM_018389.5(SLC35C1):c.-234T>G
|
rs886048313
|
|
NM_018389.5(SLC35C1):c.-615G>C
|
rs987392297
|
|
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=)
|
rs886048315
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala)
|
rs2085865383
|
|
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=)
|
rs369955835
|
|
NM_020529.3(NFKBIA):c.*102T>G
|
rs2052729719
|
|
NM_020529.3(NFKBIA):c.*302A>C
|
rs886050475
|
|
NM_020529.3(NFKBIA):c.-42G>T
|
rs1203824461
|
|
NM_020529.3(NFKBIA):c.-73C>A
|
rs1372613093
|
|
NM_020529.3(NFKBIA):c.-80C>T
|
rs886050476
|
|
NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg)
|
rs2052768045
|
|
NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg)
|
rs779867290
|
|
NM_020661.4(AICDA):c.*1083T>C
|
rs886049870
|
|
NM_020661.4(AICDA):c.*1106A>G
|
rs886049869
|
|
NM_020661.4(AICDA):c.*1138A>G
|
rs7138990
|
|
NM_020661.4(AICDA):c.*1226A>C
|
rs887527114
|
|
NM_020661.4(AICDA):c.*1262C>T
|
rs886049868
|
|
NM_020661.4(AICDA):c.*1313G>C
|
rs1941208167
|
|
NM_020661.4(AICDA):c.*1380A>G
|
rs1286233476
|
|
NM_020661.4(AICDA):c.*1453A>G
|
rs1188858698
|
|
NM_020661.4(AICDA):c.*1455G>A
|
rs187473552
|
|
NM_020661.4(AICDA):c.*1802T>C
|
rs1941199404
|
|
NM_020661.4(AICDA):c.*288C>T
|
rs886049875
|
|
NM_020661.4(AICDA):c.*38T>G
|
rs115089086
|
|
NM_020661.4(AICDA):c.*556T>G
|
rs3205190
|
|
NM_020661.4(AICDA):c.*804A>T
|
rs886049872
|
|
NM_020661.4(AICDA):c.*837A>G
|
rs886049871
|
|
NM_020661.4(AICDA):c.428-17_428-16dup
|
rs5796316
|
|
NM_020937.4(FANCM):c.*100TTTA[1]
|
rs886050504
|
|
NM_020937.4(FANCM):c.*140_*144del
|
rs886050505
|
|
NM_020937.4(FANCM):c.*254dup
|
rs112491585
|
|
NM_020937.4(FANCM):c.2160+10A>G
|
rs767254996
|
|
NM_021813.4(BACH2):c.1724T>C (p.Val575Ala)
|
rs1774004390
|
|
NM_021922.3(FANCE):c.*225T>C
|
rs1767848319
|
|
NM_021922.3(FANCE):c.*63C>T
|
rs1767839821
|
|
NM_021922.3(FANCE):c.*729A>G
|
rs886061334
|
|
NM_021922.3(FANCE):c.-162G>C
|
rs979441521
|
|
NM_021922.3(FANCE):c.-182G>A
|
rs886061324
|
|
NM_021922.3(FANCE):c.-32A>T
|
rs1767142098
|
|
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)
|
rs886061330
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)
|
rs45509302
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
NM_022051.2(EGLN1):c.-1519C>A
|
rs1333217413
|
|
NM_022051.2(EGLN1):c.-1662_-1661delAC
|
rs886046126
|
|
NM_022051.2(EGLN1):c.-1809A>G
|
rs748537901
|
|
NM_022051.2(EGLN1):c.-1832G>A
|
rs886046127
|
|
NM_022051.2(EGLN1):c.-1841A>G
|
rs565638198
|
|
NM_022051.2(EGLN1):c.-2621G>C
|
rs886046131
|
|
NM_022051.2(EGLN1):c.-2744T>C
|
rs531866773
|
|
NM_022051.2(EGLN1):c.-423G>A
|
rs1401812988
|
|
NM_022051.2(EGLN1):c.-506C>T
|
rs943301519
|
|
NM_022051.2(EGLN1):c.-516A>C
|
rs886046119
|
|
NM_022051.2(EGLN1):c.-550C>G
|
rs1440287491
|
|
NM_022051.2(EGLN1):c.-593C>G
|
rs1380469993
|
|
NM_022051.2(EGLN1):c.-615C>A
|
rs867092704
|
|
NM_022051.2(EGLN1):c.-655G>A
|
rs886046121
|
|
NM_022051.2(EGLN1):c.-928T>A
|
rs182333595
|
|
NM_022051.3(EGLN1):c.*1410ATTTT[1]
|
rs886046099
|
|
NM_022051.3(EGLN1):c.*1428_*1429del
|
rs886046098
|
|
NM_022051.3(EGLN1):c.*1487C>T
|
rs574739784
|
|
NM_022051.3(EGLN1):c.*1802_*1803dup
|
rs541569859
|
|
NM_022051.3(EGLN1):c.*1825G>A
|
rs1687590538
|
|
NM_022051.3(EGLN1):c.*2023A>G
|
rs1687584190
|
|
NM_022051.3(EGLN1):c.*261_*263del
|
rs886046108
|
|
NM_022051.3(EGLN1):c.*535T>G
|
rs886046106
|
|
NM_022051.3(EGLN1):c.*555_*559del
|
rs886046105
|
|
NM_022051.3(EGLN1):c.*934T>G
|
rs1687618996
|
|
NM_022051.3(EGLN1):c.*972G>A
|
rs867975663
|
|
NM_022051.3(EGLN1):c.-188A>C
|
rs1656652896
|
|
NM_022051.3(EGLN1):c.-377G>A
|
rs564650969
|
|
NM_022051.3(EGLN1):c.-386C>A
|
rs886046115
|
|
NM_022051.3(EGLN1):c.1217-10dup
|
rs371155853
|
|
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala)
|
rs886046111
|
|
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala)
|
rs1408448213
|
|
NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
|
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln)
|
rs886046112
|
|
NM_022051.3(EGLN1):c.597G>C (p.Val199=)
|
rs563998083
|
|
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala)
|
rs886046109
|
|
NM_022051.3(EGLN1):c.975A>T (p.Thr325=)
|
rs374733352
|
|
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met)
|
rs1010120295
|
|
NM_022725.4(FANCF):c.*1338dup
|
rs45554234
|
|
NM_022725.4(FANCF):c.*1509G>C
|
rs886048153
|
|
NM_022725.4(FANCF):c.*1525T>G
|
rs886048152
|
|
NM_022725.4(FANCF):c.*1696G>A
|
rs886048149
|
|
NM_022725.4(FANCF):c.*286A>G
|
rs1858607148
|
|
NM_022725.4(FANCF):c.*287C>T
|
rs886048156
|
|
NM_022725.4(FANCF):c.*539T>A
|
rs1858602761
|
|
NM_022725.4(FANCF):c.*624G>C
|
rs768178918
|
|
NM_022725.4(FANCF):c.*650ATTAA[1]
|
rs886048154
|
|
NM_022725.4(FANCF):c.*695dup
|
rs796646840
|
|
NM_022725.4(FANCF):c.*857G>A
|
rs964945469
|
|
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn)
|
rs886048157
|
|
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)
|
rs1858614312
|
|
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
|
rs758175326
|
|
NM_022725.4(FANCF):c.261_263del (p.His88del)
|
rs886048158
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
NM_024570.4(RNASEH2B):c.*174C>T
|
rs1952055649
|
|
NM_024570.4(RNASEH2B):c.*63G>T
|
rs751735556
|
|
NM_024570.4(RNASEH2B):c.-107G>A
|
rs886050289
|
|
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs)
|
rs1566080738
|
|
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=)
|
rs768340427
|
|
NM_024570.4(RNASEH2B):c.699-11A>G
|
rs886050290
|
|
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)
|
rs1951613237
|
|
NM_024675.4(PALB2):c.-108C>A
|
rs180177140
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
NM_024675.4(PALB2):c.1684+11A>G
|
rs201368043
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
rs876659224
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
NM_024675.4(PALB2):c.2996+14T>G
|
rs1407045774
|
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
rs1966403904
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
NM_032043.3(BRIP1):c.*1048_*1050del
|
rs564290244
|
|
NM_032043.3(BRIP1):c.*1255AG[1]
|
rs886053209
|
|
NM_032043.3(BRIP1):c.*1381G>T
|
rs886053208
|
|
NM_032043.3(BRIP1):c.*1409T>A
|
rs554933640
|
|
NM_032043.3(BRIP1):c.*1801T>G
|
rs1479468180
|
|
NM_032043.3(BRIP1):c.*1930G>C
|
rs2061267341
|
|
NM_032043.3(BRIP1):c.*2672G>A
|
rs924486012
|
|
NM_032043.3(BRIP1):c.*2715C>T
|
rs886053203
|
|
NM_032043.3(BRIP1):c.*2744A>G
|
rs1311178838
|
|
NM_032043.3(BRIP1):c.*2756G>A
|
rs182264505
|
|
NM_032043.3(BRIP1):c.*2811_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2812_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA
|
rs886053202
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2868A>G
|
rs1044791743
|
|
NM_032043.3(BRIP1):c.*288A>G
|
rs886053213
|
|
NM_032043.3(BRIP1):c.*2926T>A
|
rs886053201
|
|
NM_032043.3(BRIP1):c.*3093A>T
|
rs944576811
|
|
NM_032043.3(BRIP1):c.*3145A>G
|
rs886053200
|
|
NM_032043.3(BRIP1):c.*3821A>G
|
rs886053197
|
|
NM_032043.3(BRIP1):c.*3918C>T
|
rs886053196
|
|
NM_032043.3(BRIP1):c.*394CT[1]
|
rs546666211
|
|
NM_032043.3(BRIP1):c.*421C>T
|
rs886053211
|
|
NM_032043.3(BRIP1):c.*612A>G
|
rs2061285626
|
|
NM_032043.3(BRIP1):c.*684C>A
|
rs2061284724
|
|
NM_032043.3(BRIP1):c.-232G>A
|
rs2078998991
|
|
NM_032043.3(BRIP1):c.-38C>T
|
rs371225829
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu)
|
rs2061316462
|
|
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser)
|
rs876660768
|
|
NM_032043.3(BRIP1):c.54T>C (p.Pro18=)
|
rs886053216
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
NM_032193.3(RNASEH2C):c.-89C>G
|
rs886048503
|
|
NM_032193.4(RNASEH2C):c.*1217G>C
|
rs886048490
|
|
NM_032193.4(RNASEH2C):c.*1378G>C
|
rs746434462
|
|
NM_032193.4(RNASEH2C):c.*1768C>T
|
rs886048486
|
|
NM_032193.4(RNASEH2C):c.*1806G>A
|
rs886048484
|
|
NM_032193.4(RNASEH2C):c.*1831G>A
|
rs886048483
|
|
NM_032193.4(RNASEH2C):c.*451C>T
|
rs886048496
|
|
NM_032193.4(RNASEH2C):c.*45_*46insG
|
rs886048498
|
|
NM_032193.4(RNASEH2C):c.*532C>G
|
rs886048495
|
|
NM_032193.4(RNASEH2C):c.*560C>T
|
rs886048494
|
|
NM_032193.4(RNASEH2C):c.*706T>A
|
rs886048493
|
|
NM_032193.4(RNASEH2C):c.*862A>C
|
rs886048491
|
|
NM_032193.4(RNASEH2C):c.-27G>T
|
rs549471118
|
|
NM_032193.4(RNASEH2C):c.173-4C>G
|
rs886048501
|
|
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu)
|
rs1314714026
|
|
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile)
|
rs781376271
|
|
NM_032193.4(RNASEH2C):c.468+5G>C
|
rs753880827
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
NM_032444.4(SLX4):c.*298_*301del
|
rs566716185
|
|
NM_032444.4(SLX4):c.*469A>T
|
rs868278470
|
|
NM_032444.4(SLX4):c.*493G>T
|
rs530681898
|
|
NM_032444.4(SLX4):c.*54A>C
|
rs1596514118
|
|
NM_032444.4(SLX4):c.*82C>T
|
rs2040444401
|
|
NM_032444.4(SLX4):c.*944A>G
|
rs1032936956
|
|
NM_032444.4(SLX4):c.-143_-140del
|
rs779611690
|
|
NM_032444.4(SLX4):c.-210G>A
|
rs747849749
|
|
NM_032444.4(SLX4):c.-211dup
|
rs149138178
|
|
NM_032444.4(SLX4):c.-614G>C
|
rs2040876181
|
|
NM_032444.4(SLX4):c.-631G>A
|
rs1430818218
|
|
NM_032444.4(SLX4):c.1110T>C (p.Ala370=)
|
rs886051981
|
|
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro)
|
rs200030312
|
|
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr)
|
rs886051979
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
NM_032444.4(SLX4):c.2187A>G (p.Val729=)
|
rs2040609293
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
NM_032444.4(SLX4):c.2688G>A (p.Val896=)
|
rs758166923
|
|
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu)
|
rs886051978
|
|
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=)
|
rs1278706933
|
|
NM_032444.4(SLX4):c.360T>C (p.Thr120=)
|
rs886051982
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln)
|
rs149362820
|
|
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del)
|
rs760517738
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met)
|
rs886051976
|
|
NM_032444.4(SLX4):c.561G>T (p.Gln187His)
|
rs778738306
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
NM_032444.4(SLX4):c.786A>G (p.Pro262=)
|
rs2040736285
|
|
NM_032638.5(GATA2):c.*1002G>T
|
rs977325610
|
|
NM_032638.5(GATA2):c.*1144G>A
|
rs886057923
|
|
NM_032638.5(GATA2):c.*1173G>T
|
rs779730117
|
|
NM_032638.5(GATA2):c.*1418G>T
|
rs905132525
|
|
NM_032638.5(GATA2):c.*1522A>G
|
rs2068597449
|
|
NM_032638.5(GATA2):c.*1543T>C
|
rs886057922
|
|
NM_032638.5(GATA2):c.*418G>A
|
rs2068613223
|
|
NM_032638.5(GATA2):c.*457G>A
|
rs2068612595
|
|
NM_032638.5(GATA2):c.*479CTC[1]
|
rs886057925
|
|
NM_032638.5(GATA2):c.*73C>T
|
rs886057928
|
|
NM_032638.5(GATA2):c.*884A>T
|
rs886057924
|
|
NM_032638.5(GATA2):c.-180C>A
|
rs886057934
|
|
NM_032638.5(GATA2):c.-214G>A
|
rs994244963
|
|
NM_032638.5(GATA2):c.-215C>T
|
rs886057936
|
|
NM_032638.5(GATA2):c.-42C>G
|
rs886057933
|
|
NM_032638.5(GATA2):c.-42C>T
|
rs886057933
|
|
NM_032638.5(GATA2):c.-5C>T
|
rs374415484
|
|
NM_032638.5(GATA2):c.101T>G (p.Met34Arg)
|
rs1576749857
|
|
NM_032638.5(GATA2):c.315C>G (p.Leu105=)
|
rs750545562
|
|
NM_032638.5(GATA2):c.398G>T (p.Gly133Val)
|
rs2068696971
|
|
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro)
|
rs1353988929
|
|
NM_032638.5(GATA2):c.800C>T (p.Pro267Leu)
|
rs886057930
|
|
NM_032977.3(CASP10):c.-314G>A
|
rs1284865224
|
|
NM_032977.4(CASP10):c.*1022C>T
|
rs1323062174
|
|
NM_032977.4(CASP10):c.*1125T>C
|
rs886055413
|
|
NM_032977.4(CASP10):c.*116C>A
|
rs912143180
|
|
NM_032977.4(CASP10):c.*1258G>T
|
rs1945653563
|
|
NM_032977.4(CASP10):c.*1542A>T
|
rs41484449
|
|
NM_032977.4(CASP10):c.*1909A>G
|
rs886055417
|
|
NM_032977.4(CASP10):c.*2295T>A
|
rs886055420
|
|
NM_032977.4(CASP10):c.*2381G>C
|
rs1945684785
|
|
NM_032977.4(CASP10):c.*2425C>G
|
rs886055421
|
|
NM_032977.4(CASP10):c.*2594del
|
rs41351949
|
|
NM_032977.4(CASP10):c.*2600G>T
|
rs886055423
|
|
NM_032977.4(CASP10):c.*2741C>G
|
rs1481895284
|
|
NM_032977.4(CASP10):c.*2869A>C
|
rs886055425
|
|
NM_032977.4(CASP10):c.*2927_*2928del
|
rs886055426
|
|
NM_032977.4(CASP10):c.*2979C>T
|
rs886055427
|
|
NM_032977.4(CASP10):c.*2986C>T
|
rs886055428
|
|
NM_032977.4(CASP10):c.*3510G>A
|
rs1945713262
|
|
NM_032977.4(CASP10):c.*3591A>G
|
rs1297066259
|
|
NM_032977.4(CASP10):c.*607G>A
|
rs1326674355
|
|
NM_032977.4(CASP10):c.*632G>A
|
rs1945638403
|
|
NM_032977.4(CASP10):c.*911T>G
|
rs1945646004
|
|
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser)
|
rs1945312624
|
|
NM_032977.4(CASP10):c.1316G>T (p.Gly439Val)
|
rs764646945
|
|
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys)
|
rs565907504
|
|
NM_032977.4(CASP10):c.534A>G (p.Val178=)
|
rs146233833
|
|
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg)
|
rs779013005
|
|
NM_033360.4(KRAS):c.*180A>G
|
rs886049198
|
|
NM_033360.4(KRAS):c.*1893A>G
|
rs886049192
|
|
NM_033360.4(KRAS):c.*1967del
|
rs886049191
|
|
NM_033360.4(KRAS):c.*3092_*3095del
|
rs886049184
|
|
NM_033360.4(KRAS):c.*3269C>T
|
rs886049183
|
|
NM_033360.4(KRAS):c.*3323T>C
|
rs886049182
|
|
NM_033360.4(KRAS):c.*3803_*3804dup
|
rs142323886
|
|
NM_033360.4(KRAS):c.*3875_*3878del
|
rs886049180
|
|
NM_033360.4(KRAS):c.*4187del
|
rs34719539
|
|
NM_033360.4(KRAS):c.*4604G>A
|
rs577486152
|
|
NM_033360.4(KRAS):c.*491C>G
|
rs886049196
|
|
NM_033360.4(KRAS):c.*659del
|
rs756307694
|
|
NM_033360.4(KRAS):c.*671C>T
|
rs566222739
|
|
NM_033360.4(KRAS):c.-128C>G
|
rs886049199
|
|
NM_033629.4(TREX1):c.-206G>T
|
rs886058622
|
|
NM_033629.6(TREX1):c.-50CTGC[4]
|
rs371036312
|
|
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)
|
rs886058625
|
|
NM_033629.6(TREX1):c.554G>A (p.Arg185His)
|
rs767157848
|
|
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr)
|
rs2040380664
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052872.4(IL17F):c.-6C>T
|
rs764936954
|
|
NM_052872.4(IL17F):c.223G>A (p.Glu75Lys)
|
rs373228601
|
|
NM_052872.4(IL17F):c.254+10A>G
|
rs754360019
|
|
NM_052872.4(IL17F):c.456C>T (p.Cys152=)
|
rs1345707985
|
|
NM_052945.4(TNFRSF13C):c.*107G>C
|
rs2077623255
|
|
NM_052945.4(TNFRSF13C):c.*253C>T
|
rs2077622673
|
|
NM_052945.4(TNFRSF13C):c.-10C>A
|
rs886057591
|
|
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)
|
rs544076556
|
|
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val)
|
rs2077628213
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys)
|
rs2048501654
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
NM_080424.4(SP110):c.*158C>A
|
rs2078358694
|
|
NM_080424.4(SP110):c.*206del
|
rs1553839905
|
|
NM_080424.4(SP110):c.*82G>A
|
rs371157716
|
|
NM_080424.4(SP110):c.1173G>A (p.Val391=)
|
rs886055764
|
|
NM_080424.4(SP110):c.127A>G (p.Ile43Val)
|
rs886055766
|
|
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)
|
rs200893271
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)
|
rs181058279
|
|
NM_080424.4(SP110):c.340A>G (p.Ser114Gly)
|
rs2044663300
|
|
NM_080424.4(SP110):c.342_346del (p.Ser114fs)
|
rs1559178521
|
|
NM_080424.4(SP110):c.829+15T>C
|
rs372230531
|
|
NM_080424.4(SP110):c.848G>C (p.Cys283Ser)
|
rs754775004
|
|
NM_080911.3(UNG):c.*1018A>G
|
rs538993598
|
|
NM_080911.3(UNG):c.*129C>T
|
rs2042250000
|
|
NM_080911.3(UNG):c.*159G>A
|
rs886048907
|
|
NM_080911.3(UNG):c.*281C>T
|
rs886048908
|
|
NM_080911.3(UNG):c.*376C>G
|
rs2042251751
|
|
NM_080911.3(UNG):c.*500C>G
|
rs780337127
|
|
NM_080911.3(UNG):c.*537G>A
|
rs886048910
|
|
NM_080911.3(UNG):c.*545A>G
|
rs562354759
|
|
NM_080911.3(UNG):c.*705T>C
|
rs990568930
|
|
NM_080911.3(UNG):c.*719G>A
|
rs886048912
|
|
NM_080911.3(UNG):c.*858T>G
|
rs914567653
|
|
NM_080911.3(UNG):c.*866AT[5]
|
rs56185014
|
|
NM_080911.3(UNG):c.-50G>A
|
rs370117219
|
|
NM_080911.3(UNG):c.-51A>G
|
rs375712849
|
|
NM_080911.3(UNG):c.-51A>T
|
rs375712849
|
|
NM_080911.3(UNG):c.100G>A (p.Ala34Thr)
|
rs886048906
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.204C>T (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
NM_080911.3(UNG):c.544A>G (p.Ile182Val)
|
rs545691651
|
|
NM_080911.3(UNG):c.660C>T (p.Ala220=)
|
rs572632781
|
|
NM_080911.3(UNG):c.664C>G (p.Gln222Glu)
|
rs2042193896
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
NM_133459.4(CCBE1):c.*1161dup
|
rs886054067
|
|
NM_133459.4(CCBE1):c.*1251G>A
|
rs886054066
|
|
NM_133459.4(CCBE1):c.*146C>T
|
rs886054074
|
|
NM_133459.4(CCBE1):c.*1489G>T
|
rs1598896983
|
|
NM_133459.4(CCBE1):c.*1724C>T
|
rs556647312
|
|
NM_133459.4(CCBE1):c.*1725G>A
|
rs886054064
|
|
NM_133459.4(CCBE1):c.*1737C>T
|
rs553357543
|
|
NM_133459.4(CCBE1):c.*1861C>T
|
rs1192851582
|
|
NM_133459.4(CCBE1):c.*1933del
|
rs886054061
|
|
NM_133459.4(CCBE1):c.*1933dup
|
rs886054061
|
|
NM_133459.4(CCBE1):c.*1991_*1994del
|
rs886054060
|
|
NM_133459.4(CCBE1):c.*2014_*2016dup
|
rs373652074
|
|
NM_133459.4(CCBE1):c.*2015_*2017dup
|
rs886054057
|
|
NM_133459.4(CCBE1):c.*2051C>A
|
rs886054056
|
|
NM_133459.4(CCBE1):c.*2121C>T
|
rs1910029324
|
|
NM_133459.4(CCBE1):c.*2210T>C
|
rs886054054
|
|
NM_133459.4(CCBE1):c.*2297_*2298dup
|
rs35448271
|
|
NM_133459.4(CCBE1):c.*261T>C
|
rs886054072
|
|
NM_133459.4(CCBE1):c.*2635A>G
|
rs1187439806
|
|
NM_133459.4(CCBE1):c.*2639del
|
rs886054051
|
|
NM_133459.4(CCBE1):c.*267del
|
rs561328038
|
|
NM_133459.4(CCBE1):c.*2891G>A
|
rs886054048
|
|
NM_133459.4(CCBE1):c.*306_*307insAAAT
|
rs886054071
|
|
NM_133459.4(CCBE1):c.*3231G>A
|
rs1008043301
|
|
NM_133459.4(CCBE1):c.*3239G>C
|
rs1909983760
|
|
NM_133459.4(CCBE1):c.*3668_*3676del
|
rs886054045
|
|
NM_133459.4(CCBE1):c.*3704C>A
|
rs193017602
|
|
NM_133459.4(CCBE1):c.*3784_*3787del
|
rs886054043
|
|
NM_133459.4(CCBE1):c.*3883G>T
|
rs886054041
|
|
NM_133459.4(CCBE1):c.*4215A>T
|
rs1344828295
|
|
NM_133459.4(CCBE1):c.*4282G>A
|
rs866996406
|
|
NM_133459.4(CCBE1):c.*4525T>C
|
rs1909941641
|
|
NM_133459.4(CCBE1):c.*4550AAT[1]
|
rs553910582
|
|
NM_133459.4(CCBE1):c.*4796G>C
|
rs1048008
|
|
NM_133459.4(CCBE1):c.*4956A>C
|
rs886054039
|
|
NM_133459.4(CCBE1):c.*645T>C
|
rs886054070
|
|
NM_133459.4(CCBE1):c.*739A>T
|
rs886054069
|
|
NM_133459.4(CCBE1):c.*781A>T
|
rs1598897452
|
|
NM_133459.4(CCBE1):c.*938G>T
|
rs1032781139
|
|
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala)
|
rs1910146610
|
|
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly)
|
rs757595184
|
|
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg)
|
rs192224843
|
|
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)
|
rs200219373
|
|
NM_133459.4(CCBE1):c.460T>G (p.Leu154Val)
|
rs796238108
|
|
NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile)
|
rs764855611
|
|
NM_133459.4(CCBE1):c.60G>C (p.Leu20=)
|
rs2054822706
|
|
NM_133459.4(CCBE1):c.654+5G>A
|
rs150596993
|
|
NM_133459.4(CCBE1):c.669C>A (p.Pro223=)
|
rs886054075
|
|
NM_133459.4(CCBE1):c.733C>G (p.Leu245Val)
|
rs761011754
|
|
NM_138387.4(G6PC3):c.*1CTT[1]
|
rs761219348
|
|
NM_138387.4(G6PC3):c.*234C>G
|
rs763555878
|
|
NM_138387.4(G6PC3):c.*67G>A
|
rs11544393
|
|
NM_138387.4(G6PC3):c.-162G>A
|
rs536609615
|
|
NM_138387.4(G6PC3):c.-191T>G
|
rs886052984
|
|
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val)
|
rs34878178
|
|
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr)
|
rs886052986
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
NM_138387.4(G6PC3):c.417-9T>G
|
rs759937203
|
|
NM_139027.6(ADAMTS13):c.-52C>G
|
rs587771364
|
|
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)
|
rs142214608
|
|
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=)
|
rs587602874
|
|
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)
|
rs201522226
|
|
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)
|
rs372953477
|
|
NM_139027.6(ADAMTS13):c.1787-8C>G
|
rs1841567307
|
|
NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val)
|
rs1841574241
|
|
NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=)
|
rs1841587519
|
|
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)
|
rs138699340
|
|
NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr)
|
rs781957737
|
|
NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser)
|
rs1554792055
|
|
NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs)
|
rs886063635
|
|
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val)
|
rs376017677
|
|
NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=)
|
rs782235608
|
|
NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=)
|
rs1842731712
|
|
NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=)
|
rs1842757375
|
|
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser)
|
rs782798764
|
|
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)
|
rs782463983
|
|
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp)
|
rs587701622
|
|
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser)
|
rs200645384
|
|
NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg)
|
rs1842931730
|
|
NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg)
|
rs1344972182
|
|
NM_139027.6(ADAMTS13):c.824+5C>G
|
rs886063633
|
|
NM_139027.6(ADAMTS13):c.824+8C>T
|
rs781862563
|
|
NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp)
|
rs1232529325
|
|
NM_139276.2(STAT3):c.-226C>T
|
rs1567768628
|
|
NM_139276.3(STAT3):c.*1082G>A
|
rs184030721
|
|
NM_139276.3(STAT3):c.*1266G>A
|
rs886052938
|
|
NM_139276.3(STAT3):c.*1270C>T
|
rs886052937
|
|
NM_139276.3(STAT3):c.*1415C>G
|
rs886052936
|
|
NM_139276.3(STAT3):c.*1673C>T
|
rs886052935
|
|
NM_139276.3(STAT3):c.*1675T>C
|
rs886052934
|
|
NM_139276.3(STAT3):c.*1850C>G
|
rs886052933
|
|
NM_139276.3(STAT3):c.*1850C>T
|
rs886052933
|
|
NM_139276.3(STAT3):c.*1891C>T
|
rs1240359704
|
|
NM_139276.3(STAT3):c.*2255G>T
|
rs886052931
|
|
NM_139276.3(STAT3):c.*2340dup
|
rs886052930
|
|
NM_139276.3(STAT3):c.*2343_*2344del
|
rs886052928
|
|
NM_139276.3(STAT3):c.*2343del
|
rs886052929
|
|
NM_139276.3(STAT3):c.*608A>G
|
rs2081203585
|
|
NM_139276.3(STAT3):c.*646T>C
|
rs886052939
|
|
NM_139276.3(STAT3):c.*893dup
|
rs754306251
|
|
NM_139276.3(STAT3):c.*894del
|
rs373212106
|
|
NM_139276.3(STAT3):c.-139G>A
|
rs17883843
|
|
NM_139276.3(STAT3):c.-157A>G
|
rs1170853204
|
|
NM_139276.3(STAT3):c.-69C>T
|
rs994095771
|
|
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp)
|
rs886052942
|
|
NM_139276.3(STAT3):c.1428C>T (p.Ser476=)
|
rs369714894
|
|
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu)
|
rs2081520804
|
|
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser)
|
rs886052941
|
|
NM_139276.3(STAT3):c.249A>G (p.Leu83=)
|
rs2082709923
|
|
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr)
|
rs2082662438
|
|
NM_144687.3(NLRP12):c.*385T>G
|
rs2091691730
|
|
NM_144687.3(NLRP12):c.*423G>T
|
rs1033153396
|
|
NM_144687.4(NLRP12):c.1027C>G (p.Arg343Gly)
|
rs112159191
|
|
NM_144687.4(NLRP12):c.1207G>C (p.Val403Leu)
|
rs765948822
|
|
NM_144687.4(NLRP12):c.1342G>A (p.Gly448Arg)
|
rs914321661
|
|
NM_144687.4(NLRP12):c.136G>C (p.Gly46Arg)
|
rs886054611
|
|
NM_144687.4(NLRP12):c.1420A>T (p.Ile474Phe)
|
rs886054609
|
|
NM_144687.4(NLRP12):c.1523G>A (p.Arg508Lys)
|
rs2092040588
|
|
NM_144687.4(NLRP12):c.1732_1733del (p.Cys580fs)
|
rs1568677542
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
NM_144687.4(NLRP12):c.2438C>T (p.Ser813Phe)
|
rs886054607
|
|
NM_144687.4(NLRP12):c.2493G>C (p.Glu831Asp)
|
rs886054606
|
|
NM_144687.4(NLRP12):c.2825A>G (p.Asn942Ser)
|
rs1220727074
|
|
NM_144687.4(NLRP12):c.318T>G (p.Leu106=)
|
rs2092134647
|
|
NM_144687.4(NLRP12):c.387C>A (p.Tyr129Ter)
|
rs749761816
|
|
NM_144687.4(NLRP12):c.634A>C (p.Thr212Pro)
|
rs1162807112
|
|
NM_144687.4(NLRP12):c.835C>G (p.Leu279Val)
|
rs376185824
|
|
NM_148919.4(PSMB8):c.*116C>T
|
rs56138642
|
|
NM_148919.4(PSMB8):c.-35C>T
|
rs886061311
|
|
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr)
|
rs886061310
|
|
NM_152564.5(VPS13B):c.*1101TGAT[3]
|
rs543048641
|
|
NM_152564.5(VPS13B):c.*1106_*1108dup
|
rs765534822
|
|
NM_152564.5(VPS13B):c.*1211G>A
|
rs1025183545
|
|
NM_152564.5(VPS13B):c.*1431G>A
|
rs866313484
|
|
NM_152564.5(VPS13B):c.*1483C>A
|
rs886062558
|
|
NM_152564.5(VPS13B):c.*1504_*1507dup
|
rs747583708
|
|
NM_152564.5(VPS13B):c.*1570G>A
|
rs186440514
|
|
NM_152564.5(VPS13B):c.*1571A>G
|
rs1817736511
|
|
NM_152564.5(VPS13B):c.*270C>T
|
rs886062550
|
|
NM_152564.5(VPS13B):c.*701A>T
|
rs932121133
|
|
NM_152564.5(VPS13B):c.*733A>T
|
rs886062555
|
|
NM_152564.5(VPS13B):c.*740G>C
|
rs886062556
|
|
NM_152564.5(VPS13B):c.-30+6C>G
|
rs147672364
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
NM_152564.5(VPS13B):c.10061+4G>C
|
rs964791071
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala)
|
rs953219294
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys)
|
rs1816421633
|
|
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter)
|
rs758842658
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln)
|
rs772958839
|
|
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg)
|
rs886062534
|
|
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg)
|
rs1813686473
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.2651-12A>G
|
rs886062538
|
|
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro)
|
rs886062539
|
|
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu)
|
rs753607562
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=)
|
rs140905518
|
|
NM_152564.5(VPS13B):c.3667-5C>G
|
rs886062540
|
|
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
|
|
|
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala)
|
rs1820051985
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu)
|
rs1824576572
|
|
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=)
|
rs985853073
|
|
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys)
|
rs780314338
|
|
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser)
|
rs1829388448
|
|
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn)
|
rs886062542
|
|
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val)
|
rs751559027
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=)
|
rs761542645
|
|
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg)
|
rs183874686
|
|
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly)
|
rs780093448
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val)
|
rs774362514
|
|
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr)
|
rs886062544
|
|
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val)
|
rs765442907
|
|
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu)
|
rs886062545
|
|
NM_152564.5(VPS13B):c.8621+4C>T
|
rs1563489649
|
|
NM_152564.5(VPS13B):c.8793-7G>A
|
rs886062547
|
|
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val)
|
rs6992059
|
|
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe)
|
rs1814517169
|
|
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=)
|
rs886062548
|
|
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr)
|
rs748030120
|
|
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu)
|
rs1815137390
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys)
|
rs1372759268
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|
NM_172351.3(CD46):c.*1099A>G
|
rs886045842
|
|
NM_172351.3(CD46):c.*1272C>T
|
rs1660101231
|
|
NM_172351.3(CD46):c.*1418T>C
|
rs1660116649
|
|
NM_172351.3(CD46):c.*1659A>G
|
rs886045844
|
|
NM_172351.3(CD46):c.*1865G>C
|
rs1660164008
|
|
NM_172351.3(CD46):c.*31A>G
|
rs886045839
|
|
NM_172351.3(CD46):c.*467T>C
|
rs953478028
|
|
NM_172351.3(CD46):c.*518A>G
|
rs867789788
|
|
NM_172351.3(CD46):c.1082+13A>T
|
rs1175018634
|
|
NM_172351.3(CD46):c.1090C>T (p.Leu364=)
|
rs1483201583
|
|
NM_172351.3(CD46):c.857-124T>A
|
rs886045837
|
|
NM_172351.3(CD46):c.949C>G (p.Pro317Ala)
|
rs886045838
|
|
NM_173170.1(IL36RN):c.-27-299G>C
|
rs552166255
|
|
NM_173841.2(IL1RN):c.*1145A>G
|
rs886054779
|
|
NM_173842.3(IL1RN):c.*1049A>G
|
rs886054778
|
|
NM_173842.3(IL1RN):c.*1070T>G
|
rs1687262003
|
|
NM_173842.3(IL1RN):c.*290T>A
|
rs1687235105
|
|
NM_173842.3(IL1RN):c.*350C>G
|
rs1687237466
|
|
NM_173842.3(IL1RN):c.*369T>A
|
rs886054775
|
|
NM_173842.3(IL1RN):c.*490del
|
rs565976240
|
|
NM_173842.3(IL1RN):c.*691del
|
rs4252029
|
|
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile)
|
rs557348234
|
|
NM_173842.3(IL1RN):c.205+8G>A
|
rs762763281
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|
NM_182746.3(MCM4):c.*1140G>A
|
rs2091015101
|
|
NM_182746.3(MCM4):c.*1234T>C
|
rs1219129728
|
|
NM_182746.3(MCM4):c.*125A>G
|
rs886062979
|
|
NM_182746.3(MCM4):c.*213C>T
|
rs886062980
|
|
NM_182746.3(MCM4):c.*37C>T
|
rs1265494155
|
|
NM_182746.3(MCM4):c.*484del
|
rs886062982
|
|
NM_182746.3(MCM4):c.*537T>C
|
rs568975576
|
|
NM_182746.3(MCM4):c.-14-39G>A
|
rs2090820585
|
|
NM_182746.3(MCM4):c.-77G>A
|
rs921147935
|
|
NM_182746.3(MCM4):c.1097C>T (p.Thr366Ile)
|
rs756135528
|
|
NM_182746.3(MCM4):c.1103A>C (p.His368Pro)
|
rs2090910060
|
|
NM_182746.3(MCM4):c.1419T>G (p.His473Gln)
|
rs755120277
|
|
NM_182746.3(MCM4):c.1511T>C (p.Ile504Thr)
|
rs2090944031
|
|
NM_182746.3(MCM4):c.1578C>G (p.Leu526=)
|
rs34157149
|
|
NM_182746.3(MCM4):c.1578C>T (p.Leu526=)
|
rs34157149
|
|
NM_182746.3(MCM4):c.157A>G (p.Thr53Ala)
|
rs200598421
|
|
NM_182746.3(MCM4):c.1728C>T (p.Phe576=)
|
rs148525401
|
|
NM_182746.3(MCM4):c.1844C>G (p.Ala615Gly)
|
rs886062978
|
|
NM_182746.3(MCM4):c.2012A>G (p.Tyr671Cys)
|
rs991671311
|
|
NM_182746.3(MCM4):c.2341G>A (p.Val781Met)
|
rs765226208
|
|
NM_182746.3(MCM4):c.235+4C>G
|
rs749639468
|
|
NM_182746.3(MCM4):c.2531T>C (p.Leu844Pro)
|
rs1208915343
|
|
NM_182746.3(MCM4):c.502-8A>G
|
rs2090856775
|
|
NM_182746.3(MCM4):c.686dup (p.Tyr229Ter)
|
rs1563831163
|
|
NM_182746.3(MCM4):c.978T>C (p.Ser326=)
|
rs886062977
|
|
NM_183235.3(RAB27A):c.*1110A>G
|
rs560464809
|
|
NM_183235.3(RAB27A):c.*1172T>C
|
rs148704535
|
|
NM_183235.3(RAB27A):c.*121A>G
|
rs886051316
|
|
NM_183235.3(RAB27A):c.*131C>T
|
rs993461205
|
|
NM_183235.3(RAB27A):c.*1546T>C
|
rs1894521152
|
|
NM_183235.3(RAB27A):c.*162G>C
|
rs886051315
|
|
NM_183235.3(RAB27A):c.*1678T>A
|
rs540548388
|
|
NM_183235.3(RAB27A):c.*1863C>G
|
rs566144766
|
|
NM_183235.3(RAB27A):c.*1904A>T
|
rs28620827
|
|
NM_183235.3(RAB27A):c.*1919A>T
|
rs867969605
|
|
NM_183235.3(RAB27A):c.*28A>G
|
rs1894595727
|
|
NM_183235.3(RAB27A):c.*388G>C
|
rs886051314
|
|
NM_183235.3(RAB27A):c.*415C>T
|
rs1894577892
|
|
NM_183235.3(RAB27A):c.*457A>G
|
rs112397072
|
|
NM_183235.3(RAB27A):c.*561A>T
|
rs886051312
|
|
NM_183235.3(RAB27A):c.*595G>T
|
rs538867721
|
|
NM_183235.3(RAB27A):c.*723C>T
|
rs886051311
|
|
NM_183235.3(RAB27A):c.*854A>G
|
rs1894556488
|
|
NM_183235.3(RAB27A):c.*858G>A
|
rs886051309
|
|
NM_183235.3(RAB27A):c.*9G>A
|
rs768429078
|
|
NM_183235.3(RAB27A):c.-142-110G>A
|
rs1275639637
|
|
NM_183235.3(RAB27A):c.-142-46A>G
|
rs8031271
|
|
NM_183235.3(RAB27A):c.-23+13A>G
|
rs1897659170
|
|
NM_199242.2(UNC13D):c.-176G>A
|
rs886053427
|
|
NM_199242.2(UNC13D):c.-278C>T
|
rs886053428
|
|
NM_199242.3(UNC13D):c.*18G>A
|
rs886053421
|
|
NM_199242.3(UNC13D):c.*535A>G
|
rs2062131134
|
|
NM_199242.3(UNC13D):c.*663C>A
|
rs562884111
|
|
NM_199242.3(UNC13D):c.*692C>G
|
rs907700228
|
|
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=)
|
rs568125844
|
|
NM_199242.3(UNC13D):c.1241G>A (p.Arg414His)
|
rs768171054
|
|
NM_199242.3(UNC13D):c.1408T>C (p.Phe470Leu)
|
rs886053423
|
|
NM_199242.3(UNC13D):c.147C>G (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.147C>T (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.1596+15C>G
|
rs574478720
|
|
NM_199242.3(UNC13D):c.1728-13C>T
|
rs745855631
|
|
NM_199242.3(UNC13D):c.1758C>T (p.His586=)
|
rs759891490
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu)
|
rs371943727
|
|
NM_199242.3(UNC13D):c.1992+4C>T
|
rs764950480
|
|
NM_199242.3(UNC13D):c.2278G>C (p.Val760Leu)
|
rs143264522
|
|
NM_199242.3(UNC13D):c.2506C>T (p.Gln836Ter)
|
rs768875290
|
|
NM_199242.3(UNC13D):c.2554-11A>G
|
rs886053422
|
|
NM_199242.3(UNC13D):c.2665C>G (p.Arg889Gly)
|
rs756588179
|
|
NM_199242.3(UNC13D):c.2963C>T (p.Pro988Leu)
|
rs1458684382
|
|
NM_199242.3(UNC13D):c.3080G>C (p.Gly1027Ala)
|
rs768608291
|
|
NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln)
|
rs560279707
|
|
NM_199242.3(UNC13D):c.43T>G (p.Leu15Val)
|
rs886053424
|
|
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
|
rs553365957
|
|
NM_199242.3(UNC13D):c.683+12A>C
|
rs2064942107
|
|
NM_199242.3(UNC13D):c.683+4C>T
|
rs374832914
|
|
NM_203447.4(DOCK8):c.*1031G>A
|
rs149002313
|
|
NM_203447.4(DOCK8):c.*195G>C
|
rs184727169
|
|
NM_203447.4(DOCK8):c.*204C>A
|
rs569685446
|
|
NM_203447.4(DOCK8):c.*366C>T
|
rs886063982
|
|
NM_203447.4(DOCK8):c.*754T>C
|
rs2057925428
|
|
NM_203447.4(DOCK8):c.*88C>G
|
rs2057905960
|
|
NM_203447.4(DOCK8):c.*990T>C
|
rs1057515587
|
|
NM_203447.4(DOCK8):c.-105G>T
|
rs886063777
|
|
NM_203447.4(DOCK8):c.1044+13G>T
|
rs754374567
|
|
NM_203447.4(DOCK8):c.1286G>A (p.Gly429Glu)
|
rs776197556
|
|
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr)
|
rs531279290
|
|
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe)
|
rs531279290
|
|
NM_203447.4(DOCK8):c.1619C>G (p.Pro540Arg)
|
rs377334031
|
|
NM_203447.4(DOCK8):c.1782T>C (p.Ala594=)
|
rs748721463
|
|
NM_203447.4(DOCK8):c.1970A>G (p.Lys657Arg)
|
rs2053285384
|
|
NM_203447.4(DOCK8):c.2138A>G (p.Lys713Arg)
|
rs2053510818
|
|
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser)
|
rs886063849
|
|
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr)
|
rs752978895
|
|
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)
|
rs141451302
|
|
NM_203447.4(DOCK8):c.2527G>A (p.Gly843Arg)
|
rs886063934
|
|
NM_203447.4(DOCK8):c.2558A>G (p.His853Arg)
|
rs2053670978
|
|
NM_203447.4(DOCK8):c.2605+14G>C
|
rs886063935
|
|
NM_203447.4(DOCK8):c.2631T>G (p.Pro877=)
|
rs2053764476
|
|
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=)
|
rs781062154
|
|
NM_203447.4(DOCK8):c.3234+15dup
|
rs375864618
|
|
NM_203447.4(DOCK8):c.3531-10G>C
|
rs760907119
|
|
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)
|
rs566738926
|
|
NM_203447.4(DOCK8):c.3790G>T (p.Ala1264Ser)
|
rs886063955
|
|
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser)
|
rs150057289
|
|
NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu)
|
rs772181121
|
|
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)
|
rs775544616
|
|
NM_203447.4(DOCK8):c.5585A>G (p.Tyr1862Cys)
|
rs752479766
|
|
NM_203447.4(DOCK8):c.5825T>C (p.Leu1942Ser)
|
rs1245745138
|
|
NM_203447.4(DOCK8):c.5881G>C (p.Val1961Leu)
|
rs2057374290
|
|
NM_203447.4(DOCK8):c.605G>T (p.Arg202Leu)
|
rs374288188
|
|
NM_203447.4(DOCK8):c.6068+11A>C
|
rs886063964
|
|
NM_203447.4(DOCK8):c.6098G>T (p.Arg2033Leu)
|
rs558033558
|
|
NM_203447.4(DOCK8):c.6186G>A (p.Glu2062=)
|
rs2057877910
|
|
NM_203447.4(DOCK8):c.698A>T (p.Asn233Ile)
|
rs576266303
|
|
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys)
|
rs2050147330
|
|
NM_203447.4(DOCK8):c.72A>G (p.Ile24Met)
|
rs531628086
|
|
NM_203447.4(DOCK8):c.760C>T (p.Arg254Cys)
|
rs1227911560
|
|
NM_203447.4(DOCK8):c.841A>G (p.Ile281Val)
|
rs1412000721
|
|
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr)
|
rs2050845211
|
|
NM_206937.2(LIG4):c.*26C>G
|
rs773391515
|
|
NM_206937.2(LIG4):c.*26del
|
rs886049948
|
|
NM_206937.2(LIG4):c.*620AATTG[1]
|
rs544474901
|
|
NM_206937.2(LIG4):c.*857T>C
|
rs536555099
|
|
NM_206937.2(LIG4):c.*906T>A
|
rs886049943
|
|
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu)
|
rs886049949
|
|
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)
|
rs781425152
|
|
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly)
|
rs781102255
|
|
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr)
|
rs753492255
|
|