NM_000352.6(ABCC8):c.2390+219T>C
|
rs4148632
|
0.89524
|
NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
NM_000352.6(ABCC8):c.2390+123C>T
|
rs4148631
|
0.70926
|
NM_000352.6(ABCC8):c.2390+93C>T
|
rs4148630
|
0.70902
|
NM_000514.4(GDNF):c.*2213G>A
|
rs2973051
|
0.69338
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_000207.3(INS):c.*22A>C
|
rs3842753
|
0.59307
|
NM_001072.4(UGT1A6):c.862-10021T>G
|
rs4124874
|
0.56024
|
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)
|
rs1051266
|
0.51413
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_175914.5(HNF4A):c.1217-145T>C
|
rs3746574
|
0.46132
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44947
|
NM_014000.3(VCL):c.2388G>A (p.Pro796=)
|
rs767809
|
0.42862
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
NM_003060.4(SLC22A5):c.-207=
|
rs2631367
|
0.41743
|
NM_017774.3(CDKAL1):c.371+11426A>C
|
rs10946398
|
0.40537
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
NM_017774.3(CDKAL1):c.371+30101A>G
|
rs7756992
|
0.37650
|
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)
|
rs2295933
|
0.36600
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
NM_000140.5(FECH):c.*1287T>A
|
rs113654252
|
0.36364
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe)
|
rs1979277
|
0.31369
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_001318241.2(TBATA):c.666T>C (p.Ala222=)
|
rs2254433
|
0.29892
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=)
|
rs2289001
|
0.26784
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)
|
rs1805087
|
0.21137
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)
|
rs10380
|
0.18188
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)
|
rs1799999
|
0.16138
|
NM_007214.5(SEC63):c.1936-7_1936-5dup
|
rs766716921
|
0.15112
|
NM_001010848.4(NRG3):c.823+1856C>G
|
rs1884282
|
0.13286
|
NM_001042413.2(GLIS3):c.*3338T>A
|
rs202199541
|
0.13018
|
NM_001042413.2(GLIS3):c.*3336del
|
rs200420290
|
0.12180
|
NM_000140.5(FECH):c.*2446G>T
|
rs4940895
|
0.12042
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NC_000012.12:g.117439680C>T
|
rs41279104
|
0.10627
|
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)
|
rs17101196
|
0.09216
|
NM_175914.5(HNF4A):c.1217-151A>C
|
rs74173201
|
0.07406
|
NM_000207.3(INS):c.-18+4_-18+5insTTGC
|
rs3842740
|
0.07357
|
NM_005359.6(SMAD4):c.*5547A>G
|
rs11662245
|
0.07079
|
NM_001080467.3(MYO5B):c.*3065T>C
|
rs78201339
|
0.06384
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_022895.3(C12orf43):c.*2358C>T
|
rs11065390
|
0.05950
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_016320.5(NUP98):c.2637G>A (p.Pro879=)
|
rs35803045
|
0.05148
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
NM_014009.4(FOXP3):c.543C>T (p.Ser181=)
|
rs2232367
|
0.03006
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000251.3(MSH2):c.942+4A>T
|
rs749778569
|
0.02181
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
NM_005359.6(SMAD4):c.*5553A>G
|
rs867342943
|
0.01606
|
NM_005359.6(SMAD4):c.*5534C>G
|
rs923444877
|
0.01573
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_004360.5(CDH1):c.2440-143G>A
|
rs34238989
|
0.01561
|
NM_001080467.3(MYO5B):c.*164T>G
|
rs3208550
|
0.01554
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_005359.6(SMAD4):c.*5555A>G
|
rs1047967021
|
0.01458
|
NM_001122659.3(EDNRB):c.*1310C>T
|
rs3027095
|
0.01448
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_018006.4(TRMU):c.-279G>A
|
rs187162795
|
0.01295
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
NM_002299.4(LCT):c.*325G>C
|
rs62170085
|
0.01267
|
NM_005359.6(SMAD4):c.*5545G>A
|
rs752846586
|
0.01214
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.01067
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
NM_000352.6(ABCC8):c.2556+22G>A
|
rs73423036
|
0.01022
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_000208.4(INSR):c.*2318G>A
|
rs80330850
|
0.00953
|
NM_000208.4(INSR):c.909G>A (p.Gln303=)
|
rs9282757
|
0.00950
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000115.5(EDNRB):c.-225T>A
|
rs142748526
|
0.00862
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_007214.5(SEC63):c.1936-4C>T
|
rs1456647065
|
0.00789
|
NM_002299.4(LCT):c.4347T>C (p.Phe1449=)
|
rs17699796
|
0.00774
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_001080467.3(MYO5B):c.*108C>A
|
rs112174362
|
0.00729
|
NM_001080467.3(MYO5B):c.20A>G (p.Tyr7Cys)
|
rs190674457
|
0.00708
|
NM_175914.5(HNF4A):c.*3086C>T
|
rs551080524
|
0.00706
|
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)
|
rs1063445
|
0.00691
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)
|
rs148768851
|
0.00669
|
NM_018006.4(TRMU):c.-281G>A
|
rs148373924
|
0.00662
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
NM_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)
|
rs142417583
|
0.00634
|
NM_002904.6(NELFE):c.-30C>A
|
rs182142262
|
0.00631
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_005359.6(SMAD4):c.*5549A>G
|
rs777856072
|
0.00617
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
NM_003597.5(KLF11):c.-76G>A
|
rs1038766626
|
0.00583
|
NM_000115.5(EDNRB):c.-64C>T
|
rs140686455
|
0.00559
|
NM_002299.4(LCT):c.3006G>A (p.Arg1002=)
|
rs114815229
|
0.00558
|
NM_001041.4(SI):c.123T>C (p.Ile41=)
|
rs146222650
|
0.00551
|
NM_005359.6(SMAD4):c.*5557A>G
|
rs1414914656
|
0.00550
|
NM_000207.3(INS):c.63A>G (p.Pro21=)
|
rs11564720
|
0.00546
|
NM_000209.4(PDX1):c.-18C>T
|
rs193922351
|
0.00540
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)
|
rs36033115
|
0.00527
|
NM_001040108.2(MLH3):c.*1376C>T
|
rs117160510
|
0.00527
|
NM_004360.5(CDH1):c.1321-88C>T
|
rs33934457
|
0.00519
|
NM_001041.4(SI):c.1398+12T>C
|
rs115295826
|
0.00514
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
|
rs55744193
|
0.00504
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
|
rs5346
|
0.00500
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_000130.5(F5):c.*1290G>A
|
rs9332677
|
0.00480
|
NM_001041.4(SI):c.2923T>C (p.Tyr975His)
|
rs146785675
|
0.00477
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_005359.6(SMAD4):c.*5578G>C
|
rs867684157
|
0.00469
|
NM_001080467.3(MYO5B):c.*202T>G
|
rs73436344
|
0.00465
|
NM_001041.4(SI):c.1716-13G>A
|
rs112259253
|
0.00456
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_001374385.1(ATP8B1):c.-51C>T
|
rs150844949
|
0.00431
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
NM_000140.5(FECH):c.*2441G>T
|
rs886053982
|
0.00424
|
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)
|
rs535090775
|
0.00423
|
NM_001080467.3(MYO5B):c.*3126A>C
|
rs183415958
|
0.00406
|
NM_001042.3(SLC2A4):c.1147G>A (p.Val383Ile)
|
rs121434581
|
0.00405
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
NM_001041.4(SI):c.1212G>A (p.Ala404=)
|
rs142838612
|
0.00391
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001122659.3(EDNRB):c.*296A>G
|
rs12720203
|
0.00388
|
NM_001558.4(IL10RA):c.*1555C>T
|
rs182393130
|
0.00386
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
NM_002299.4(LCT):c.*10A>C
|
rs200994158
|
0.00375
|
NM_207034.3(EDN3):c.*1147A>G
|
rs3026571
|
0.00371
|
NM_000130.5(F5):c.6309G>A (p.Leu2103=)
|
rs35369423
|
0.00361
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_002769.5(PRSS1):c.592-24C>T
|
rs192452846
|
0.00354
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)
|
rs5350
|
0.00348
|
NM_175914.5(HNF4A):c.*1127T>C
|
rs757386171
|
0.00337
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00332
|
NM_000222.3(KIT):c.*299G>C
|
rs185479436
|
0.00330
|
NM_005359.6(SMAD4):c.*5551A>G
|
rs202140561
|
0.00329
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
NM_001122659.3(EDNRB):c.*2463T>C
|
rs139792924
|
0.00322
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_002299.4(LCT):c.2763G>A (p.Ala921=)
|
rs116951780
|
0.00313
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)
|
rs34038364
|
0.00307
|
NM_000343.4(SLC5A1):c.*703C>T
|
rs576036983
|
0.00305
|
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
|
rs8192683
|
0.00299
|
NM_000130.5(F5):c.*891A>G
|
rs9332674
|
0.00298
|
NM_000628.5(IL10RB):c.*816T>C
|
rs118117891
|
0.00298
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)
|
rs61755182
|
0.00291
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_000130.5(F5):c.3751T>C (p.Leu1251=)
|
rs1403856375
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_007214.5(SEC63):c.*3948A>T
|
rs374547546
|
0.00283
|
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)
|
rs527638422
|
0.00279
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_001042413.2(GLIS3):c.*2657T>G
|
rs41278329
|
0.00270
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_002772.3(TMPRSS15):c.44G>A (p.Ser15Asn)
|
rs61735772
|
0.00257
|
NM_001370466.1(NOD2):c.*873C>T
|
rs373812846
|
0.00255
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
NM_001042413.2(GLIS3):c.1117C>G (p.Leu373Val)
|
rs200263979
|
0.00252
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_000208.4(INSR):c.*3298C>T
|
rs184243377
|
0.00248
|
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
|
rs145893756
|
0.00247
|
NM_000130.5(F5):c.*2037G>A
|
rs550454517
|
0.00246
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_000115.5(EDNRB):c.-228C>T
|
rs144954195
|
0.00239
|
NM_022895.3(C12orf43):c.*2956C>T
|
rs112986697
|
0.00237
|
NM_175914.5(HNF4A):c.*1078G>A
|
rs573432571
|
0.00233
|
NM_015077.4(SARM1):c.1924-978del
|
rs559270240
|
0.00232
|
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)
|
rs148816140
|
0.00229
|
NM_001122764.3(PPOX):c.-246G>T
|
rs114493458
|
0.00229
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_000130.5(F5):c.*581C>A
|
rs180742904
|
0.00227
|
NM_032830.3(UTP4):c.302G>T (p.Gly101Val)
|
rs144369314
|
0.00227
|
NM_001122659.3(EDNRB):c.*1412C>T
|
rs202238915
|
0.00226
|
NM_080424.4(SP110):c.583+8A>G
|
rs114743173
|
0.00224
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser)
|
rs138956788
|
0.00220
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_025225.3(PNPLA3):c.484G>A (p.Val162Met)
|
rs141106484
|
0.00215
|
NM_003051.4(SLC16A1):c.-92G>T
|
rs144301005
|
0.00214
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro)
|
rs200537697
|
0.00211
|
NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser)
|
rs201703858
|
0.00211
|
NM_001122659.3(EDNRB):c.*2258G>T
|
rs186739277
|
0.00211
|
NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His)
|
rs146835830
|
0.00210
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_001374385.1(ATP8B1):c.*734A>T
|
rs528645513
|
0.00206
|
NM_000208.4(INSR):c.*1917G>C
|
rs186013503
|
0.00205
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
NM_001040108.2(MLH3):c.*3206C>T
|
rs188135545
|
0.00201
|
NM_175914.5(HNF4A):c.*1293C>T
|
rs182919150
|
0.00201
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_025225.3(PNPLA3):c.696+12G>A
|
rs185208551
|
0.00200
|
NM_001041.4(SI):c.2395A>G (p.Ile799Val)
|
rs150246328
|
0.00198
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_007214.5(SEC63):c.*1113_*1115del
|
rs541858963
|
0.00198
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)
|
rs200135768
|
0.00197
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)
|
rs35573508
|
0.00192
|
NM_002354.3(EPCAM):c.859-6A>G
|
rs150307203
|
0.00191
|
NM_175914.5(HNF4A):c.*76G>A
|
rs11574743
|
0.00191
|
NM_003051.4(SLC16A1):c.*629C>T
|
rs540946001
|
0.00189
|
NM_000130.5(F5):c.*216T>A
|
rs186962725
|
0.00188
|
NM_000130.5(F5):c.*396C>A
|
rs181328696
|
0.00188
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_080424.4(SP110):c.584-10C>G
|
rs148591984
|
0.00188
|
NM_000130.5(F5):c.*363T>G
|
rs115882472
|
0.00187
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_000208.4(INSR):c.-12G>C
|
rs143135433
|
0.00186
|
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)
|
rs114144673
|
0.00186
|
NM_000352.4(ABCC8):c.-215_-214del
|
rs902564696
|
0.00185
|
NM_001040108.2(MLH3):c.*1448G>A
|
rs185975350
|
0.00185
|
NM_000236.3(LIPC):c.89-4G>A
|
rs184587533
|
0.00184
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_001370466.1(NOD2):c.*89C>T
|
rs184545855
|
0.00183
|
NM_000208.4(INSR):c.*3009del
|
rs140355086
|
0.00182
|
NM_001040108.2(MLH3):c.*3258T>C
|
rs138812028
|
0.00182
|
NM_001042413.2(GLIS3):c.*3339T>A
|
rs868836548
|
0.00181
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)
|
rs148838160
|
0.00178
|
NM_002299.4(LCT):c.4576C>T (p.Leu1526=)
|
rs140074771
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_015077.4(SARM1):c.*1575G>A
|
rs200529579
|
0.00177
|
NM_001042413.2(GLIS3):c.-514G>A
|
rs146119120
|
0.00176
|
NM_000031.6(ALAD):c.*363G>A
|
rs576008526
|
0.00175
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_001080467.3(MYO5B):c.2125G>A (p.Val709Met)
|
rs192207329
|
0.00175
|
NM_175914.5(HNF4A):c.*2006T>C
|
rs150112206
|
0.00175
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_001626.6(AKT2):c.945G>A (p.Glu315=)
|
rs150000674
|
0.00174
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)
|
rs587780309
|
0.00172
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_001042413.2(GLIS3):c.*3343T>A
|
rs544757217
|
0.00170
|
NM_015077.4(SARM1):c.*646C>G
|
rs139343092
|
0.00170
|
NM_002299.4(LCT):c.2457C>T (p.His819=)
|
rs149425549
|
0.00168
|
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)
|
rs142860816
|
0.00168
|
NM_025225.3(PNPLA3):c.*1175A>C
|
rs529050829
|
0.00168
|
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
|
rs56082035
|
0.00167
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
NM_018006.4(TRMU):c.-87T>C
|
rs184994382
|
0.00164
|
NM_000492.4(CFTR):c.*482C>T
|
rs147862180
|
0.00163
|
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)
|
rs138497710
|
0.00163
|
NM_015077.4(SARM1):c.1924-910C>T
|
rs575926704
|
0.00163
|
NM_175914.5(HNF4A):c.*1783G>T
|
rs564110189
|
0.00161
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000251.1(MSH2):c.-179C>T
|
rs17224094
|
0.00159
|
NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser)
|
rs184974475
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_001042413.2(GLIS3):c.*2052C>A
|
rs151287182
|
0.00158
|
NM_000130.5(F5):c.6193+7T>A
|
rs185294741
|
0.00156
|
NM_001166290.2(KCNJ11):c.-17+514C>T
|
rs146464426
|
0.00156
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_001040108.2(MLH3):c.*1470C>T
|
rs181758061
|
0.00154
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser)
|
rs104895425
|
0.00152
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
|
rs119465999
|
0.00150
|
NM_001041.4(SI):c.4951G>A (p.Val1651Ile)
|
rs139876383
|
0.00149
|
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)
|
rs116232047
|
0.00149
|
NM_000222.3(KIT):c.*252G>T
|
rs376694515
|
0.00148
|
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
NM_175914.5(HNF4A):c.*446G>A
|
rs548013860
|
0.00147
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn)
|
rs55952751
|
0.00145
|
NM_000208.4(INSR):c.*2853T>C
|
rs186288667
|
0.00143
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)
|
rs139573207
|
0.00142
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_001042413.2(GLIS3):c.*564C>T
|
rs145516872
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)
|
rs150254638
|
0.00140
|
NM_025225.3(PNPLA3):c.*918G>A
|
rs146578673
|
0.00140
|
NM_001080467.3(MYO5B):c.3001A>T (p.Ile1001Phe)
|
rs61737447
|
0.00139
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
|
rs139991238
|
0.00137
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_000374.4(UROD):c.-52C>A
|
rs41269103
|
0.00136
|
NM_138711.6(PPARG):c.913G>C (p.Val305Leu)
|
rs139894525
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
NM_000208.4(INSR):c.*2464C>T
|
rs181555180
|
0.00132
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
NM_001558.4(IL10RA):c.*866C>A
|
rs145605428
|
0.00130
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
NM_003051.4(SLC16A1):c.*948G>A
|
rs543171131
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000208.4(INSR):c.*356G>T
|
rs1353247571
|
0.00128
|
NM_003051.4(SLC16A1):c.*104C>T
|
rs182505461
|
0.00128
|
NM_015077.4(SARM1):c.1924-885G>A
|
rs886052737
|
0.00128
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr)
|
rs138546433
|
0.00122
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
NM_000130.5(F5):c.-40T>C
|
rs41272465
|
0.00121
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_006206.6(PDGFRA):c.*2336T>C
|
rs574665425
|
0.00121
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_000352.4(ABCC8):c.-215G>C
|
rs546148657
|
0.00119
|
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)
|
rs72657556
|
0.00118
|
NM_003597.5(KLF11):c.*738A>G
|
rs146942100
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
NM_000525.4(KCNJ11):c.*862G>T
|
rs547635594
|
0.00115
|
NM_001042413.2(GLIS3):c.*2914G>T
|
rs185773873
|
0.00115
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_002500.5(NEUROD1):c.*164_*165del
|
rs574102237
|
0.00115
|
NM_002904.6(NELFE):c.-61G>C
|
rs546698443
|
0.00115
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala)
|
rs138812345
|
0.00111
|
NM_000031.6(ALAD):c.*400G>A
|
rs557867804
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
|
rs150131334
|
0.00110
|
NM_015634.4(KIFBP):c.1326A>G (p.Arg442=)
|
rs143815412
|
0.00110
|
NM_000343.4(SLC5A1):c.*1744G>A
|
rs376602365
|
0.00109
|
NM_000492.3(CFTR):c.-1043dup
|
rs574740041
|
0.00109
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
NM_015077.4(SARM1):c.*1539G>T
|
rs41297915
|
0.00109
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_001080467.3(MYO5B):c.4702-9C>T
|
rs147405294
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)
|
rs61729285
|
0.00106
|
NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg)
|
rs138998503
|
0.00106
|
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)
|
rs189103810
|
0.00106
|
NM_000130.5(F5):c.*441C>T
|
rs188490117
|
0.00105
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
NM_001122764.3(PPOX):c.87+13C>T
|
rs201155115
|
0.00103
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_175914.5(HNF4A):c.*1013G>A
|
rs767537996
|
0.00103
|
NM_000343.4(SLC5A1):c.*649G>A
|
rs544819758
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000410.4(HFE):c.502G>C (p.Glu168Gln)
|
rs146519482
|
0.00102
|
NM_002711.4(PPP1R3A):c.628C>T (p.Arg210Cys)
|
rs141223649
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
NM_015077.4(SARM1):c.*1531C>T
|
rs41297917
|
0.00101
|
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)
|
rs147223483
|
0.00101
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_001122659.3(EDNRB):c.*1496G>A
|
rs143210700
|
0.00099
|
NM_006206.6(PDGFRA):c.*534A>G
|
rs566508858
|
0.00099
|
NM_015077.4(SARM1):c.*1389G>C
|
rs41297919
|
0.00099
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_001042413.2(GLIS3):c.*2373C>A
|
rs41314594
|
0.00098
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_007214.5(SEC63):c.*3510T>A
|
rs555871275
|
0.00097
|
NM_018006.4(TRMU):c.-147C>A
|
rs190351151
|
0.00097
|
NM_000208.4(INSR):c.*4712T>C
|
rs147343062
|
0.00096
|
NM_003597.5(KLF11):c.*1608T>G
|
rs142746538
|
0.00096
|
NM_005276.4(GPD1):c.431T>C (p.Met144Thr)
|
rs146239968
|
0.00096
|
NM_007214.5(SEC63):c.*3489A>G
|
rs1027018659
|
0.00096
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
NM_053025.4(MYLK):c.*1653G>A
|
rs780658640
|
0.00096
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_000208.4(INSR):c.*3894G>A
|
rs184154294
|
0.00093
|
NM_004174.4(SLC9A3):c.579G>A (p.Pro193=)
|
rs542245214
|
0.00093
|
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)
|
rs201522681
|
0.00093
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
NM_001080467.3(MYO5B):c.1323-15C>A
|
rs183991942
|
0.00092
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_001080467.3(MYO5B):c.2123G>A (p.Arg708Gln)
|
rs201670299
|
0.00091
|
NM_001558.4(IL10RA):c.*1147C>T
|
rs527246428
|
0.00091
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_001080467.3(MYO5B):c.1950G>A (p.Thr650=)
|
rs180849030
|
0.00090
|
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)
|
rs5743269
|
0.00090
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met)
|
rs147755711
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001042413.2(GLIS3):c.793G>T (p.Val265Phe)
|
rs143192828
|
0.00087
|
NM_175914.5(HNF4A):c.*3153C>A
|
rs569302875
|
0.00087
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_001041.4(SI):c.*121C>T
|
rs530056606
|
0.00086
|
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=)
|
rs146238548
|
0.00086
|
NM_002299.4(LCT):c.2883C>T (p.Ala961=)
|
rs140994860
|
0.00086
|
NM_003051.3(SLC16A1):c.-349G>A
|
rs750771668
|
0.00086
|
NM_002299.4(LCT):c.4026G>A (p.Thr1342=)
|
rs150640616
|
0.00085
|
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)
|
rs142248792
|
0.00085
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_025225.3(PNPLA3):c.-44C>G
|
rs773713393
|
0.00084
|
NM_032830.3(UTP4):c.1083A>G (p.Gly361=)
|
rs34747774
|
0.00084
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)
|
rs56143179
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006206.6(PDGFRA):c.*2100A>G
|
rs192159089
|
0.00083
|
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)
|
rs61734338
|
0.00083
|
NM_000251.3(MSH2):c.942+4A>G
|
rs749778569
|
0.00082
|
NM_000514.4(GDNF):c.*2267G>A
|
rs577631751
|
0.00082
|
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys)
|
rs147495948
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_000130.5(F5):c.*598T>G
|
rs544753372
|
0.00081
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_001040108.2(MLH3):c.*1159A>C
|
rs549461634
|
0.00081
|
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)
|
rs149783130
|
0.00081
|
NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg)
|
rs376031632
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001080467.3(MYO5B):c.1492G>A (p.Asp498Asn)
|
rs200175136
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)
|
rs188529539
|
0.00081
|
NM_015077.4(SARM1):c.*2535T>C
|
rs181698246
|
0.00080
|
NM_001041.4(SI):c.825C>T (p.Tyr275=)
|
rs139867598
|
0.00079
|
NM_001374385.1(ATP8B1):c.*503G>T
|
rs187993447
|
0.00079
|
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)
|
rs150314450
|
0.00079
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
NM_000379.4(XDH):c.3647C>A (p.Pro1216His)
|
rs143981573
|
0.00078
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_007214.5(SEC63):c.*1071G>C
|
rs538845937
|
0.00077
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000374.5(UROD):c.474+15G>C
|
rs369108963
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001127511.3(APC):c.-204A>G
|
rs554351451
|
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_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00075
|
NM_001080467.3(MYO5B):c.*2098T>C
|
rs1297286387
|
0.00075
|
NM_003122.5(SPINK1):c.-147A>G
|
rs779832256
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)
|
rs8187788
|
0.00074
|
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)
|
rs144792551
|
0.00074
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
NM_025225.3(PNPLA3):c.*19T>G
|
rs569255289
|
0.00074
|
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)
|
rs138773456
|
0.00073
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000410.4(HFE):c.18G>C (p.Arg6Ser)
|
rs149342416
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001289104.2(PRKCSH):c.*279G>T
|
rs531001195
|
0.00072
|
NM_000208.4(INSR):c.*2255T>G
|
rs547131375
|
0.00071
|
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)
|
rs142036980
|
0.00071
|
NM_001122764.3(PPOX):c.617-6C>T
|
rs200192089
|
0.00071
|
NM_001166108.2(PALLD):c.*2141A>G
|
rs962914167
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_007199.3(IRAK3):c.1461del (p.Asn487fs)
|
rs776951445
|
0.00071
|
NM_000294.3(PHKG2):c.-28G>T
|
rs556945561
|
0.00070
|
NM_001166108.2(PALLD):c.*1792T>A
|
rs186567215
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)
|
rs145685060
|
0.00069
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=)
|
rs140309338
|
0.00068
|
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)
|
rs146054564
|
0.00068
|
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)
|
rs41274176
|
0.00068
|
NM_003924.4(PHOX2B):c.*214A>G
|
rs994949118
|
0.00068
|
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)
|
rs387906814
|
0.00068
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)
|
rs200769337
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys)
|
rs190919484
|
0.00067
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
|
rs146830505
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)
|
rs146467199
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_001042413.2(GLIS3):c.*3028G>T
|
rs752355123
|
0.00065
|
NM_001166108.2(PALLD):c.*2027T>C
|
rs192990293
|
0.00065
|
NM_003924.4(PHOX2B):c.*1486T>C
|
rs530550940
|
0.00065
|
NM_004329.3(BMPR1A):c.*1194A>G
|
rs546825674
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
|
rs148838377
|
0.00064
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)
|
rs77200626
|
0.00064
|
NM_005359.6(SMAD4):c.*202A>G
|
rs765823244
|
0.00064
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
NM_015077.4(SARM1):c.*1721T>C
|
rs779490495
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_000130.5(F5):c.*1912C>T
|
rs865812546
|
0.00063
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000410.4(HFE):c.*603C>T
|
rs62625353
|
0.00063
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)
|
rs147642236
|
0.00063
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys)
|
rs145867412
|
0.00062
|
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
0.00062
|
NM_002303.6(LEPR):c.3247A>G (p.Thr1083Ala)
|
rs149329546
|
0.00062
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00062
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
NM_000352.5(ABCC8):c.*118A>G
|
rs142441893
|
0.00061
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_000140.5(FECH):c.*5090G>A
|
rs776370345
|
0.00060
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001042413.2(GLIS3):c.1452G>A (p.Gln484=)
|
rs143229804
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_004498.4(ONECUT1):c.805C>G (p.Arg269Gly)
|
rs139802359
|
0.00060
|
NM_005327.7(HADH):c.710-845C>G
|
rs201019894
|
0.00060
|
NM_007272.3(CTRC):c.640-14C>T
|
rs202049497
|
0.00060
|
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr)
|
rs138345617
|
0.00060
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001042413.2(GLIS3):c.1788G>A (p.Pro596=)
|
rs150364458
|
0.00059
|
NM_005359.6(SMAD4):c.*2962C>T
|
rs543699844
|
0.00059
|
NM_015634.4(KIFBP):c.78A>G (p.Lys26=)
|
rs144067344
|
0.00059
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
NM_006206.6(PDGFRA):c.*2496A>G
|
rs184179322
|
0.00058
|
NM_006929.5(SKIC2):c.1020T>C (p.Val340=)
|
rs61761944
|
0.00058
|
NM_007214.5(SEC63):c.*1037A>G
|
rs536922747
|
0.00058
|
NM_007214.5(SEC63):c.*129G>A
|
rs552904217
|
0.00058
|
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=)
|
rs142011043
|
0.00058
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001042413.2(GLIS3):c.*1458G>A
|
rs41278331
|
0.00057
|
NM_178161.3(PTF1A):c.*117A>G
|
rs886046911
|
0.00057
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000343.3(SLC5A1):c.-60C>T
|
rs200410750
|
0.00056
|
NM_000352.4(ABCC8):c.-544G>A
|
rs184908312
|
0.00056
|
NM_001122659.3(EDNRB):c.*2167C>G
|
rs191136728
|
0.00056
|
NM_003051.4(SLC16A1):c.*1654A>G
|
rs761298128
|
0.00056
|
NM_004360.5(CDH1):c.*424T>A
|
rs867174076
|
0.00056
|
NM_025225.3(PNPLA3):c.*1068C>T
|
rs746640250
|
0.00056
|
NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu)
|
rs141398922
|
0.00056
|
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)
|
rs145406549
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn)
|
rs142143966
|
0.00055
|
NM_003597.5(KLF11):c.-83G>A
|
rs943136426
|
0.00055
|
NM_006206.6(PDGFRA):c.*39C>T
|
rs55681376
|
0.00055
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_175914.5(HNF4A):c.*271C>T
|
rs11574745
|
0.00055
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_001122659.3(EDNRB):c.*2055A>G
|
rs12720204
|
0.00054
|
NM_001613.4(ACTA2):c.*28A>T
|
rs143005546
|
0.00054
|
NM_003597.5(KLF11):c.*2265T>A
|
rs757068768
|
0.00054
|
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu)
|
rs201862124
|
0.00054
|
NM_000031.6(ALAD):c.*1464A>G
|
rs559359572
|
0.00053
|
NM_000130.5(F5):c.-84G>A
|
rs543172813
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_001080467.3(MYO5B):c.*829C>T
|
rs189598795
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_005359.6(SMAD4):c.*1874C>G
|
rs761701805
|
0.00053
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_173560.4(RFX6):c.62C>A (p.Ser21Tyr)
|
rs146773792
|
0.00053
|
NM_000111.3(SLC26A3):c.711C>G (p.His237Gln)
|
rs145962719
|
0.00052
|
NM_000208.4(INSR):c.*2149C>T
|
rs886054670
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_000097.7(CPOX):c.*939A>G
|
rs539237301
|
0.00051
|
NM_000190.4(HMBS):c.257A>T (p.Glu86Val)
|
rs150763621
|
0.00051
|
NM_001041.4(SI):c.2892G>A (p.Thr964=)
|
rs145486890
|
0.00051
|
NM_001042413.2(GLIS3):c.*3337T>A
|
rs57166843
|
0.00051
|
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)
|
rs368806050
|
0.00051
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
NM_003924.4(PHOX2B):c.*693C>T
|
rs535962589
|
0.00051
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_002500.5(NEUROD1):c.*253A>G
|
rs546609239
|
0.00050
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
NM_005359.6(SMAD4):c.*5541G>A
|
rs1025975410
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_001042413.2(GLIS3):c.*836A>G
|
rs181182902
|
0.00049
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
NM_005327.4(HADH):c.-203A>G
|
rs376591232
|
0.00049
|
NM_007214.5(SEC63):c.*936C>T
|
rs141309531
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_080424.4(SP110):c.328T>C (p.Tyr110His)
|
rs200651686
|
0.00049
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
NM_000410.4(HFE):c.*198C>T
|
rs544604880
|
0.00048
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu)
|
rs142426878
|
0.00048
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_003051.4(SLC16A1):c.*516C>G
|
rs754537571
|
0.00048
|
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)
|
rs144431930
|
0.00048
|
NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser)
|
rs143367522
|
0.00048
|
NM_007214.5(SEC63):c.*1108A>G
|
rs560882192
|
0.00048
|
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr)
|
rs148573907
|
0.00048
|
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)
|
rs745857330
|
0.00047
|
NM_001080467.3(MYO5B):c.*2912T>C
|
rs886053855
|
0.00047
|
NM_001558.4(IL10RA):c.*1375C>A
|
rs141609122
|
0.00047
|
NM_005359.6(SMAD4):c.*6522C>T
|
rs183472455
|
0.00047
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_000628.5(IL10RB):c.174-14T>G
|
rs200472684
|
0.00046
|
NM_001040108.2(MLH3):c.*2469A>G
|
rs764557856
|
0.00046
|
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)
|
rs147874812
|
0.00046
|
NM_001558.4(IL10RA):c.*203G>T
|
rs550348490
|
0.00046
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu)
|
rs41298555
|
0.00046
|
NM_022895.3(C12orf43):c.*1891G>A
|
rs568653423
|
0.00046
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000628.5(IL10RB):c.-74C>A
|
rs56368587
|
0.00045
|
NM_004360.5(CDH1):c.*346A>T
|
rs754600872
|
0.00045
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_022895.3(C12orf43):c.*1649G>A
|
rs56335342
|
0.00045
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_000208.4(INSR):c.*1967G>A
|
rs886054672
|
0.00044
|
NM_000208.4(INSR):c.*499G>T
|
rs1173572474
|
0.00044
|
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)
|
rs139042803
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_001080467.3(MYO5B):c.1786A>G (p.Lys596Glu)
|
rs200548362
|
0.00044
|
NM_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp)
|
rs143538561
|
0.00044
|
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr)
|
rs146822426
|
0.00044
|
NM_000208.4(INSR):c.*2136T>A
|
rs886054671
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_001040108.2(MLH3):c.*888C>T
|
rs181069483
|
0.00043
|
NM_001042413.2(GLIS3):c.287C>T (p.Pro96Leu)
|
rs143425492
|
0.00043
|
NM_001080467.3(MYO5B):c.3488T>G (p.Leu1163Arg)
|
rs201109748
|
0.00043
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
NM_001558.4(IL10RA):c.*854C>G
|
rs535662153
|
0.00043
|
NM_002299.4(LCT):c.1461G>A (p.Ala487=)
|
rs146206234
|
0.00043
|
NM_002299.4(LCT):c.2760C>T (p.Gly920=)
|
rs200579267
|
0.00043
|
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser)
|
rs202228712
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_000251.3(MSH2):c.*129T>C
|
rs587779059
|
0.00042
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln)
|
rs146273341
|
0.00042
|
NM_015634.4(KIFBP):c.*451T>C
|
rs968407883
|
0.00042
|
NM_000031.6(ALAD):c.715-14C>A
|
rs201135240
|
0.00041
|
NM_000111.3(SLC26A3):c.571-9T>C
|
rs200735098
|
0.00041
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)
|
rs57307513
|
0.00041
|
NM_000525.4(KCNJ11):c.-546G>T
|
rs886048045
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_001040108.2(MLH3):c.-124A>C
|
rs566279601
|
0.00041
|
NM_001041.4(SI):c.2737G>T (p.Val913Phe)
|
rs200328496
|
0.00041
|
NM_001122659.3(EDNRB):c.*1513G>C
|
rs200042120
|
0.00041
|
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)
|
rs148159407
|
0.00041
|
NM_003051.3(SLC16A1):c.-248G>T
|
rs762453730
|
0.00041
|
NM_003597.5(KLF11):c.*756C>T
|
rs886054727
|
0.00041
|
NM_004360.5(CDH1):c.*16C>T
|
rs769544370
|
0.00041
|
NM_015634.4(KIFBP):c.48G>T (p.Ala16=)
|
rs201777829
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)
|
rs17856033
|
0.00041
|
NM_053025.4(MYLK):c.-228C>G
|
rs886057869
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001041.4(SI):c.4451G>A (p.Arg1484His)
|
rs145246112
|
0.00039
|
NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys)
|
rs76213287
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
0.00039
|
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)
|
rs143391519
|
0.00039
|
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser)
|
rs143227096
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_175914.5(HNF4A):c.*2153T>C
|
rs760628227
|
0.00039
|
NM_000031.6(ALAD):c.*422G>T
|
rs41276805
|
0.00038
|
NM_000115.5(EDNRB):c.-160G>A
|
rs538779808
|
0.00038
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_000545.8(HNF1A):c.-5G>A
|
rs370979090
|
0.00038
|
NM_000572.3(IL10):c.58C>T (p.Pro20Ser)
|
rs141219090
|
0.00038
|
NM_001041.4(SI):c.2789A>G (p.Gln930Arg)
|
rs150927256
|
0.00038
|
NM_002336.3(LRP6):c.4436C>T (p.Thr1479Ile)
|
rs144175121
|
0.00038
|
NM_002500.5(NEUROD1):c.*1096T>C
|
rs188774781
|
0.00038
|
NM_003597.5(KLF11):c.-104C>T
|
rs886054718
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_001122764.3(PPOX):c.471+3G>A
|
rs200920978
|
0.00037
|
NM_001166108.2(PALLD):c.-83+9G>A
|
rs150719521
|
0.00037
|
NM_015077.4(SARM1):c.*812G>A
|
rs750056802
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_001042413.2(GLIS3):c.1873-9C>G
|
rs371770632
|
0.00036
|
NM_001080467.3(MYO5B):c.3698G>T (p.Ser1233Ile)
|
rs189721715
|
0.00036
|
NM_001626.6(AKT2):c.204G>A (p.Pro68=)
|
rs139479466
|
0.00036
|
NM_001626.6(AKT2):c.347G>C (p.Gly116Ala)
|
rs141209878
|
0.00036
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
NM_005359.6(SMAD4):c.*4066C>T
|
rs772166247
|
0.00036
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_025225.3(PNPLA3):c.557C>A (p.Pro186His)
|
rs148866299
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_004329.3(BMPR1A):c.*321C>T
|
rs546449017
|
0.00035
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_006206.6(PDGFRA):c.*2970G>T
|
rs752208389
|
0.00035
|
NM_006231.4(POLE):c.2602C>T (p.Leu868=)
|
rs115830215
|
0.00035
|
NM_175914.5(HNF4A):c.826+30dup
|
rs193922478
|
0.00035
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)
|
rs374134161
|
0.00034
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)
|
rs104895432
|
0.00034
|
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn)
|
rs143014431
|
0.00034
|
NM_002299.4(LCT):c.3285C>T (p.His1095=)
|
rs372534937
|
0.00034
|
NM_003183.6(ADAM17):c.1480A>G (p.Met494Val)
|
rs1038962906
|
0.00034
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
NM_004360.5(CDH1):c.*623A>G
|
rs142125691
|
0.00034
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr)
|
rs199910987
|
0.00034
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_015077.4(SARM1):c.1924-667G>A
|
rs184621509
|
0.00034
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
NM_000190.4(HMBS):c.*101G>A
|
rs565181447
|
0.00033
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_001122764.3(PPOX):c.-251G>C
|
rs368129128
|
0.00033
|
NM_002500.5(NEUROD1):c.*283A>G
|
rs535699215
|
0.00033
|
NM_002711.4(PPP1R3A):c.297C>A (p.Phe99Leu)
|
rs115949425
|
0.00033
|
NM_003597.5(KLF11):c.-146C>T
|
rs886054717
|
0.00033
|
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)
|
rs377170187
|
0.00033
|
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys)
|
rs140855946
|
0.00033
|
NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met)
|
rs190477302
|
0.00033
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
NM_000208.4(INSR):c.*3654G>A
|
rs753611294
|
0.00032
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
NM_000374.5(UROD):c.442C>T (p.Arg148Cys)
|
rs147374926
|
0.00032
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
NM_001166108.2(PALLD):c.1965-12924C>T
|
rs1048547337
|
0.00032
|
NM_001370466.1(NOD2):c.-8-2297C>T
|
rs188341692
|
0.00032
|
NM_001374385.1(ATP8B1):c.*735T>A
|
rs561633356
|
0.00032
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
NM_001374385.1(ATP8B1):c.555-3T>C
|
rs367948617
|
0.00032
|
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)
|
rs145545828
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_002772.3(TMPRSS15):c.1428+2T>G
|
rs138221037
|
0.00032
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe)
|
rs368297251
|
0.00032
|
NM_005359.6(SMAD4):c.-495C>G
|
rs886053886
|
0.00032
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
NM_006231.4(POLE):c.3971G>A (p.Arg1324His)
|
rs143981093
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_053025.4(MYLK):c.*1191T>C
|
rs756047939
|
0.00032
|
NM_175914.5(HNF4A):c.*2992C>T
|
rs770250175
|
0.00032
|
NM_178161.3(PTF1A):c.462G>T (p.Arg154=)
|
rs1056021170
|
0.00032
|
NM_000222.3(KIT):c.67+12C>T
|
rs374618962
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000294.3(PHKG2):c.*22C>T
|
rs372172604
|
0.00031
|
NM_000343.3(SLC5A1):c.-120C>T
|
rs886057399
|
0.00031
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_000514.4(GDNF):c.*1612C>A
|
rs200969412
|
0.00031
|
NM_001040108.2(MLH3):c.*1291G>A
|
rs543186188
|
0.00031
|
NM_001042413.2(GLIS3):c.*3337_*3338insA
|
rs886063938
|
0.00031
|
NM_001080467.3(MYO5B):c.*40G>A
|
rs1058550
|
0.00031
|
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His)
|
rs201361018
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)
|
rs150246870
|
0.00031
|
NM_004329.3(BMPR1A):c.*487A>G
|
rs886047362
|
0.00031
|
NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys)
|
rs777761839
|
0.00031
|
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys)
|
rs149682257
|
0.00031
|
NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp)
|
rs569569636
|
0.00031
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_001040108.2(MLH3):c.2650G>A (p.Glu884Lys)
|
rs61752723
|
0.00030
|
NM_001042413.2(GLIS3):c.*1566T>G
|
rs188662841
|
0.00030
|
NM_001080467.3(MYO5B):c.926G>A (p.Arg309Gln)
|
rs200142429
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_006206.5(PDGFRA):c.-318G>A
|
rs533627398
|
0.00030
|
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)
|
rs140725151
|
0.00030
|
NM_007214.4(SEC63):c.-237C>T
|
rs563388363
|
0.00030
|
NM_007214.5(SEC63):c.*2465C>T
|
rs558416401
|
0.00030
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
NM_000208.4(INSR):c.39G>C (p.Pro13=)
|
rs771984795
|
0.00029
|
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)
|
rs138790505
|
0.00029
|
NM_000458.4(HNF1B):c.*445A>G
|
rs571607314
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_001042413.2(GLIS3):c.*2203A>G
|
rs1047571321
|
0.00029
|
NM_001042413.2(GLIS3):c.*515G>A
|
rs572565068
|
0.00029
|
NM_001042413.2(GLIS3):c.-223C>T
|
rs746014906
|
0.00029
|
NM_001042413.2(GLIS3):c.1056G>C (p.Leu352=)
|
rs140880100
|
0.00029
|
NM_001042413.2(GLIS3):c.1740G>A (p.Arg580=)
|
rs149545036
|
0.00029
|
NM_001122659.3(EDNRB):c.*2165C>T
|
rs201086847
|
0.00029
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_001370466.1(NOD2):c.*462C>A
|
rs562972090
|
0.00029
|
NM_001374385.1(ATP8B1):c.*968T>A
|
rs886054002
|
0.00029
|
NM_001386140.1(MTTP):c.-82C>T
|
rs767201629
|
0.00029
|
NM_001626.6(AKT2):c.623G>A (p.Arg208Lys)
|
rs35817154
|
0.00029
|
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val)
|
rs142647085
|
0.00029
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_003597.5(KLF11):c.*2273C>T
|
rs534714754
|
0.00029
|
NM_003924.4(PHOX2B):c.*737C>T
|
rs745503233
|
0.00029
|
NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly)
|
rs765803171
|
0.00029
|
NM_004360.5(CDH1):c.1937-25C>A
|
rs201760019
|
0.00029
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
0.00029
|
NM_006005.3(WFS1):c.1124G>A (p.Arg375His)
|
rs142671083
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_006206.6(PDGFRA):c.*332G>A
|
rs750090756
|
0.00029
|
NM_006206.6(PDGFRA):c.-13+12G>T
|
rs760170961
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_080424.4(SP110):c.1315A>G (p.Lys439Glu)
|
rs145154247
|
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_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
NM_178161.3(PTF1A):c.*306C>G
|
rs769212869
|
0.00029
|
NM_178161.3(PTF1A):c.446C>T (p.Ala149Val)
|
rs902236805
|
0.00029
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)
|
rs55792975
|
0.00028
|
NM_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
|
rs142789249
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)
|
rs200272953
|
0.00028
|
NM_001715.2(BLK):c.-209C>T
|
rs559867785
|
0.00028
|
NM_003742.4(ABCB11):c.1434+14A>G
|
rs201816834
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)
|
rs147346173
|
0.00028
|
NM_007272.3(CTRC):c.251T>C (p.Val84Ala)
|
rs200369419
|
0.00028
|
NM_022895.3(C12orf43):c.*1917C>T
|
rs1039799815
|
0.00028
|
NM_053025.4(MYLK):c.-229C>T
|
rs1040685992
|
0.00028
|
NM_000111.3(SLC26A3):c.271+7T>A
|
rs200385882
|
0.00027
|
NM_000130.5(F5):c.566C>T (p.Pro189Leu)
|
rs141800405
|
0.00027
|
NM_000374.5(UROD):c.774+12G>A
|
rs186269864
|
0.00027
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe)
|
rs374929970
|
0.00027
|
NM_001166108.2(PALLD):c.1965-12812C>A
|
rs532961259
|
0.00027
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)
|
rs115052010
|
0.00027
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser)
|
rs115148599
|
0.00026
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000208.4(INSR):c.*1191T>C
|
rs564677377
|
0.00026
|
NM_000343.4(SLC5A1):c.*707G>A
|
rs886057409
|
0.00026
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
NM_000458.4(HNF1B):c.*629C>T
|
rs566057658
|
0.00026
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_001040108.2(MLH3):c.*1073A>C
|
rs1032410483
|
0.00026
|
NM_001041.4(SI):c.322T>G (p.Phe108Val)
|
rs146006371
|
0.00026
|
NM_001041.4(SI):c.5367T>C (p.Tyr1789=)
|
rs144206255
|
0.00026
|
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)
|
rs374943049
|
0.00026
|
NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val)
|
rs113754532
|
0.00026
|
NM_001080467.3(MYO5B):c.-258T>G
|
rs545858094
|
0.00026
|
NM_001122659.3(EDNRB):c.*2219A>G
|
rs200177379
|
0.00026
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)
|
rs138943609
|
0.00026
|
NM_001370466.1(NOD2):c.*382C>T
|
rs535063121
|
0.00026
|
NM_002711.4(PPP1R3A):c.3260T>G (p.Ile1087Arg)
|
rs139484221
|
0.00026
|
NM_003597.5(KLF11):c.*216_*217insTT
|
rs1553314463
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_006206.6(PDGFRA):c.*1249C>T
|
rs777258903
|
0.00026
|
NM_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
NM_175914.5(HNF4A):c.*547G>A
|
rs1031904976
|
0.00026
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00025
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)
|
rs140592811
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000628.5(IL10RB):c.718G>A (p.Gly240Ser)
|
rs777514296
|
0.00025
|
NM_001042413.2(GLIS3):c.*3920G>A
|
rs747590249
|
0.00025
|
NM_001366110.1(PAX4):c.14-182G>A
|
rs886061971
|
0.00025
|
NM_001374385.1(ATP8B1):c.*1945C>T
|
rs779489096
|
0.00025
|
NM_001386140.1(MTTP):c.-84T>C
|
rs761717058
|
0.00025
|
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg)
|
rs200438956
|
0.00025
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_006206.6(PDGFRA):c.*1928G>C
|
rs748063948
|
0.00025
|
NM_025225.3(PNPLA3):c.*448C>T
|
rs555962274
|
0.00025
|
NM_032830.3(UTP4):c.1287+6T>C
|
rs201299923
|
0.00025
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_000031.6(ALAD):c.-75-11A>G
|
rs187909805
|
0.00024
|
NM_000140.5(FECH):c.*394C>G
|
rs781751487
|
0.00024
|
NM_000140.5(FECH):c.*4077C>T
|
rs548648988
|
0.00024
|
NM_000222.3(KIT):c.*2056G>A
|
rs567475861
|
0.00024
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
NM_000514.4(GDNF):c.*532A>G
|
rs886060602
|
0.00024
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_001080467.3(MYO5B):c.*552T>C
|
rs768657150
|
0.00024
|
NM_001080467.3(MYO5B):c.2647C>T (p.Leu883=)
|
rs375746475
|
0.00024
|
NM_001080467.3(MYO5B):c.28-6T>C
|
rs373443648
|
0.00024
|
NM_001080467.3(MYO5B):c.4954T>A (p.Tyr1652Asn)
|
rs201466306
|
0.00024
|
NM_001080467.3(MYO5B):c.839-11G>A
|
rs369128969
|
0.00024
|
NM_001166108.2(PALLD):c.-143A>G
|
rs571957605
|
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_001374385.1(ATP8B1):c.*296C>T
|
rs553050447
|
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_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
NM_004329.3(BMPR1A):c.*85G>A
|
rs531153431
|
0.00024
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_006206.6(PDGFRA):c.*2121C>A
|
rs557865852
|
0.00024
|
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=)
|
rs55966236
|
0.00024
|
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)
|
rs375796317
|
0.00024
|
NM_007214.5(SEC63):c.*358T>C
|
rs529945456
|
0.00024
|
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)
|
rs140993290
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_025225.3(PNPLA3):c.*990T>A
|
rs886057604
|
0.00024
|
NM_032830.3(UTP4):c.846G>A (p.Pro282=)
|
rs150182351
|
0.00024
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln)
|
rs142459647
|
0.00023
|
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)
|
rs141982176
|
0.00023
|
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)
|
rs141022509
|
0.00023
|
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)
|
rs148429884
|
0.00023
|
NM_001042413.2(GLIS3):c.*1686T>A
|
rs886063947
|
0.00023
|
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His)
|
rs149840771
|
0.00023
|
NM_001080467.3(MYO5B):c.*302A>G
|
rs746672084
|
0.00023
|
NM_001122659.3(EDNRB):c.*1481G>A
|
rs200394800
|
0.00023
|
NM_001166108.2(PALLD):c.*1131T>G
|
rs773353973
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_002303.6(LEPR):c.430G>T (p.Val144Leu)
|
rs147667928
|
0.00023
|
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)
|
rs201293992
|
0.00023
|
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser)
|
rs144897109
|
0.00023
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys)
|
rs149540655
|
0.00023
|
NM_007214.5(SEC63):c.*3133C>A
|
rs890357088
|
0.00023
|
NM_015077.4(SARM1):c.*1108C>T
|
rs782425144
|
0.00023
|
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)
|
rs200068321
|
0.00023
|
NM_080424.4(SP110):c.-85T>C
|
rs199943005
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
NM_000031.5(ALAD):c.-156C>A
|
rs562413861
|
0.00022
|
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala)
|
rs199655229
|
0.00022
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000222.3(KIT):c.*390A>G
|
rs528891717
|
0.00022
|
NM_000222.3(KIT):c.2349C>T (p.Leu783=)
|
rs151046591
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_001040108.2(MLH3):c.*889G>A
|
rs886050772
|
0.00022
|
NM_001042413.2(GLIS3):c.*2185G>A
|
rs374555254
|
0.00022
|
NM_001042413.2(GLIS3):c.2710G>A (p.Gly904Arg)
|
rs150310830
|
0.00022
|
NM_001080467.3(MYO5B):c.*666G>A
|
rs117918775
|
0.00022
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)
|
rs746231889
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)
|
rs143110172
|
0.00022
|
NM_001379610.1(SPINK1):c.-43G>A
|
rs185818957
|
0.00022
|
NM_001558.4(IL10RA):c.*863C>T
|
rs779722798
|
0.00022
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00022
|
NM_003051.3(SLC16A1):c.-360G>A
|
rs758825428
|
0.00022
|
NM_004360.5(CDH1):c.*1872C>T
|
rs545034372
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)
|
rs139276234
|
0.00022
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys)
|
rs138127684
|
0.00022
|
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)
|
rs142560329
|
0.00022
|
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu)
|
rs202214985
|
0.00022
|
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln)
|
rs138450443
|
0.00022
|
NM_015634.4(KIFBP):c.*20G>A
|
rs201287646
|
0.00022
|
NM_018006.5(TRMU):c.*149G>A
|
rs542744986
|
0.00022
|
NM_020975.6(RET):c.*84G>A
|
rs558718557
|
0.00022
|
NM_022895.3(C12orf43):c.*2791G>A
|
rs547080919
|
0.00022
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_207034.3(EDN3):c.-164G>A
|
rs749699689
|
0.00022
|
NM_000031.6(ALAD):c.874G>A (p.Gly292Arg)
|
rs200781693
|
0.00021
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000208.4(INSR):c.2698G>A (p.Val900Ile)
|
rs144029037
|
0.00021
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
NM_000222.3(KIT):c.1486G>A (p.Asp496Asn)
|
rs143179681
|
0.00021
|
NM_000343.4(SLC5A1):c.*2251G>A
|
rs569361272
|
0.00021
|
NM_000374.4(UROD):c.*80A>G
|
rs144315045
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000514.4(GDNF):c.*1246C>T
|
rs565833757
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001040108.2(MLH3):c.4180G>A (p.Ala1394Thr)
|
rs138006166
|
0.00021
|
NM_001042413.2(GLIS3):c.*975C>G
|
rs540961907
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001122659.3(EDNRB):c.*1600T>C
|
rs201570543
|
0.00021
|
NM_001122764.3(PPOX):c.-1C>T
|
rs148045152
|
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_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
0.00021
|
NM_002711.4(PPP1R3A):c.2822T>C (p.Met941Thr)
|
rs138771673
|
0.00021
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)
|
rs554138665
|
0.00021
|
NM_003597.5(KLF11):c.*1155G>A
|
rs886054729
|
0.00021
|
NM_003597.5(KLF11):c.*654C>T
|
rs144723641
|
0.00021
|
NM_004360.5(CDH1):c.*196T>G
|
rs576484193
|
0.00021
|
NM_005359.6(SMAD4):c.*4262T>G
|
rs371901376
|
0.00021
|
NM_006208.3(ENPP1):c.*128C>T
|
rs371896132
|
0.00021
|
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)
|
rs200683397
|
0.00021
|
NM_017763.6(RNF43):c.1114C>T (p.Pro372Ser)
|
rs201204271
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
NM_000130.5(F5):c.*1780G>T
|
rs559071301
|
0.00020
|
NM_000224.3(KRT18):c.206G>C (p.Gly69Ala)
|
rs532875586
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000374.5(UROD):c.390G>T (p.Glu130Asp)
|
rs138585833
|
0.00020
|
NM_000514.4(GDNF):c.*1713C>T
|
rs886060593
|
0.00020
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)
|
rs777286241
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_001040108.2(MLH3):c.2775C>A (p.Asn925Lys)
|
rs144010264
|
0.00020
|
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)
|
rs375113759
|
0.00020
|
NM_001042413.2(GLIS3):c.*1487A>G
|
rs916418957
|
0.00020
|
NM_001080467.3(MYO5B):c.3647T>G (p.Leu1216Arg)
|
rs201194311
|
0.00020
|
NM_001114753.3(ENG):c.-246T>C
|
rs886063478
|
0.00020
|
NM_001166108.2(PALLD):c.*2184G>A
|
rs769635594
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)
|
rs189732445
|
0.00020
|
NM_002500.5(NEUROD1):c.*548T>A
|
rs886055324
|
0.00020
|
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu)
|
rs144458353
|
0.00020
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)
|
rs112967046
|
0.00020
|
NM_006206.6(PDGFRA):c.*2142G>A
|
rs914482961
|
0.00020
|
NM_006206.6(PDGFRA):c.*2186G>A
|
rs569793596
|
0.00020
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
NM_006412.4(AGPAT2):c.461C>A (p.Ala154Asp)
|
rs150530734
|
0.00020
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
NM_015634.4(KIFBP):c.901G>A (p.Glu301Lys)
|
rs149809657
|
0.00020
|
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)
|
rs186961144
|
0.00020
|
NM_022895.3(C12orf43):c.*1796G>A
|
rs927067298
|
0.00020
|
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)
|
rs201076728
|
0.00020
|
NM_178161.3(PTF1A):c.*265A>G
|
rs886046914
|
0.00020
|
NM_000031.6(ALAD):c.*1832T>C
|
rs903858525
|
0.00019
|
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr)
|
rs138313868
|
0.00019
|
NM_000043.6(FAS):c.-10C>A
|
rs200181814
|
0.00019
|
NM_000111.3(SLC26A3):c.1677+10G>A
|
rs367754347
|
0.00019
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000343.4(SLC5A1):c.*1312A>G
|
rs768251081
|
0.00019
|
NM_000343.4(SLC5A1):c.*1995T>C
|
rs999440734
|
0.00019
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)
|
rs193922403
|
0.00019
|
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)
|
rs373122168
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)
|
rs148466782
|
0.00019
|
NM_000628.5(IL10RB):c.645C>T (p.Asp215=)
|
rs148468217
|
0.00019
|
NM_001040108.2(MLH3):c.*1235T>C
|
rs189021867
|
0.00019
|
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)
|
rs556583179
|
0.00019
|
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
|
rs144972103
|
0.00019
|
NM_001041.4(SI):c.4239C>T (p.Asp1413=)
|
rs138374817
|
0.00019
|
NM_001041.4(SI):c.556T>C (p.Ser186Pro)
|
rs142447888
|
0.00019
|
NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val)
|
rs200959196
|
0.00019
|
NM_001042413.2(GLIS3):c.2746G>A (p.Val916Met)
|
rs151140581
|
0.00019
|
NM_001080467.3(MYO5B):c.3645C>T (p.Asp1215=)
|
rs200991250
|
0.00019
|
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu)
|
rs140360991
|
0.00019
|
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)
|
rs104895430
|
0.00019
|
NM_001379610.1(SPINK1):c.-53C>T
|
rs367798627
|
0.00019
|
NM_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_001558.4(IL10RA):c.*1058A>G
|
rs886047712
|
0.00019
|
NM_001558.4(IL10RA):c.*639C>T
|
rs562410825
|
0.00019
|
NM_001626.6(AKT2):c.1399C>T (p.Arg467Trp)
|
rs142926499
|
0.00019
|
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val)
|
rs376164225
|
0.00019
|
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys)
|
rs374950521
|
0.00019
|
NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn)
|
rs758594009
|
0.00019
|
NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly)
|
rs144657795
|
0.00019
|
NM_003597.5(KLF11):c.*1658G>A
|
rs367805998
|
0.00019
|
NM_003597.5(KLF11):c.*674G>C
|
rs574996537
|
0.00019
|
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)
|
rs200095753
|
0.00019
|
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)
|
rs373862003
|
0.00019
|
NM_006206.6(PDGFRA):c.*1778C>A
|
rs182602738
|
0.00019
|
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val)
|
rs140995132
|
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_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_015077.4(SARM1):c.1924-320C>T
|
rs908290461
|
0.00019
|
NM_015077.4(SARM1):c.2156C>T (p.Ala719Val)
|
rs146812537
|
0.00019
|
NM_018006.5(TRMU):c.*113G>A
|
rs747510857
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)
|
rs201690654
|
0.00019
|
NM_025225.3(PNPLA3):c.-69T>C
|
rs916837240
|
0.00019
|
NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro)
|
rs35726887
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_175914.5(HNF4A):c.*3013A>G
|
rs773868595
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
|
rs199662246
|
0.00018
|
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln)
|
rs144398632
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)
|
rs114982090
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_000534.5(PMS1):c.79G>C (p.Glu27Gln)
|
rs5742973
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln)
|
rs201303087
|
0.00018
|
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)
|
rs375443860
|
0.00018
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
NM_001080467.3(MYO5B):c.*3153T>C
|
rs544138887
|
0.00018
|
NM_001122659.3(EDNRB):c.*2047C>T
|
rs199537579
|
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_002354.3(EPCAM):c.859-3C>G
|
rs201314303
|
0.00018
|
NM_002500.5(NEUROD1):c.*454C>T
|
rs923588837
|
0.00018
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
NM_007214.5(SEC63):c.*1941C>T
|
rs886060944
|
0.00018
|
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr)
|
rs140117667
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp)
|
rs55672414
|
0.00018
|
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp)
|
rs150007422
|
0.00018
|
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys)
|
rs147332242
|
0.00018
|
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp)
|
rs144875196
|
0.00018
|
NM_182643.3(DLC1):c.1700C>T (p.Pro567Leu)
|
rs139415835
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000097.7(CPOX):c.*340A>G
|
rs886058945
|
0.00017
|
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)
|
rs538127151
|
0.00017
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)
|
rs151333262
|
0.00017
|
NM_000514.4(GDNF):c.*1534G>A
|
rs886060596
|
0.00017
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_001080467.3(MYO5B):c.3130+14C>T
|
rs374774816
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=)
|
rs745841943
|
0.00017
|
NM_001379610.1(SPINK1):c.87+26T>C
|
rs200296519
|
0.00017
|
NM_001558.4(IL10RA):c.1145G>C (p.Ser382Thr)
|
rs376309967
|
0.00017
|
NM_001715.3(BLK):c.*209C>G
|
rs544690947
|
0.00017
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)
|
rs766767855
|
0.00017
|
NM_004174.4(SLC9A3):c.1814G>A (p.Arg605Gln)
|
rs146547322
|
0.00017
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)
|
rs145868241
|
0.00017
|
NM_015077.4(SARM1):c.1924-340G>T
|
rs1046966571
|
0.00017
|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
NM_018006.5(TRMU):c.853G>A (p.Val285Ile)
|
rs147754663
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
0.00017
|
NM_000031.6(ALAD):c.724G>A (p.Val242Ile)
|
rs200180791
|
0.00016
|
NM_000130.5(F5):c.*838T>C
|
rs376103455
|
0.00016
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
NM_000140.5(FECH):c.*4720T>C
|
rs760022638
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000208.4(INSR):c.*1573C>T
|
rs549250341
|
0.00016
|
NM_000222.3(KIT):c.1674G>A (p.Lys558=)
|
rs200375589
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
0.00016
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
NM_000374.4(UROD):c.-51T>C
|
rs370067756
|
0.00016
|
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)
|
rs199504845
|
0.00016
|
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys)
|
rs767764203
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000514.4(GDNF):c.*795C>T
|
rs187004493
|
0.00016
|
NM_000525.4(KCNJ11):c.*546G>A
|
rs886048037
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
NM_001042413.2(GLIS3):c.-115G>A
|
rs886063958
|
0.00016
|
NM_001042413.2(GLIS3):c.-132C>G
|
rs751221310
|
0.00016
|
NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser)
|
rs755318788
|
0.00016
|
NM_001080467.3(MYO5B):c.*1967C>T
|
rs192996713
|
0.00016
|
NM_001080467.3(MYO5B):c.*382C>T
|
rs368154253
|
0.00016
|
NM_001122659.3(EDNRB):c.*1662T>C
|
rs202174312
|
0.00016
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)
|
rs148348158
|
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_001374385.1(ATP8B1):c.*242T>C
|
rs757204179
|
0.00016
|
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr)
|
rs202100663
|
0.00016
|
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)
|
rs555329870
|
0.00016
|
NM_003122.5(SPINK1):c.-142T>C
|
rs755968566
|
0.00016
|
NM_003597.5(KLF11):c.*956C>T
|
rs149067484
|
0.00016
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
NM_004360.5(CDH1):c.388-21C>A
|
rs769585694
|
0.00016
|
NM_004655.4(AXIN2):c.1436C>A (p.Ser479Tyr)
|
rs137933764
|
0.00016
|
NM_005068.3(SIM1):c.2107C>T (p.Arg703Trp)
|
rs532142781
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)
|
rs148089728
|
0.00016
|
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
|
rs147724970
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_007214.5(SEC63):c.*2624T>C
|
rs368337970
|
0.00016
|
NM_007214.5(SEC63):c.*514T>C
|
rs557190642
|
0.00016
|
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)
|
rs183480366
|
0.00016
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val)
|
rs111608902
|
0.00016
|
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)
|
rs140832430
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
NM_175914.5(HNF4A):c.*1087G>C
|
rs540463510
|
0.00016
|
NM_175914.5(HNF4A):c.*2193T>C
|
rs148871044
|
0.00016
|
NM_175914.5(HNF4A):c.50-4753G>A
|
rs566155738
|
0.00016
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
NM_000031.6(ALAD):c.678G>T (p.Leu226=)
|
rs190497588
|
0.00015
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000097.7(CPOX):c.*1046A>G
|
rs763864217
|
0.00015
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000251.2(MSH2):c.-116G>T
|
rs587782786
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000514.4(GDNF):c.*1699G>C
|
rs200330062
|
0.00015
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile)
|
rs375931960
|
0.00015
|
NM_001080467.3(MYO5B):c.4460-11G>A
|
rs373035489
|
0.00015
|
NM_001352754.2(ARMC9):c.636G>C (p.Gln212His)
|
rs201590882
|
0.00015
|
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)
|
rs1467372840
|
0.00015
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
NM_001613.4(ACTA2):c.936C>T (p.Ala312=)
|
rs200213764
|
0.00015
|
NM_001715.3(BLK):c.-203C>T
|
rs886062592
|
0.00015
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
NM_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
0.00015
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
NM_003597.5(KLF11):c.-108G>A
|
rs868540286
|
0.00015
|
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)
|
rs148968483
|
0.00015
|
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys)
|
rs756725213
|
0.00015
|
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln)
|
rs200174512
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)
|
rs139636763
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_006005.3(WFS1):c.71G>A (p.Arg24His)
|
rs71524364
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_017763.6(RNF43):c.640C>G (p.Leu214Val)
|
rs200626293
|
0.00015
|
NM_018006.4(TRMU):c.-312G>A
|
rs143463292
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met)
|
rs202103609
|
0.00015
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000130.5(F5):c.*1237G>A
|
rs979200861
|
0.00014
|
NM_000130.5(F5):c.*2053G>C
|
rs886045534
|
0.00014
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
NM_000130.5(F5):c.437G>A (p.Arg146Gln)
|
rs145625079
|
0.00014
|
NM_000140.5(FECH):c.*2450_*2451insG
|
rs886053980
|
0.00014
|
NM_000140.5(FECH):c.139A>G (p.Thr47Ala)
|
rs144831860
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000208.4(INSR):c.*2160G>T
|
rs570523460
|
0.00014
|
NM_000208.4(INSR):c.*613C>T
|
rs779517721
|
0.00014
|
NM_000208.4(INSR):c.*87C>T
|
rs749041393
|
0.00014
|
NM_000214.3(JAG1):c.*253C>T
|
rs780887274
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)
|
rs8187811
|
0.00014
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
NM_000628.5(IL10RB):c.953C>T (p.Pro318Leu)
|
rs141414815
|
0.00014
|
NM_000628.5(IL10RB):c.954G>A (p.Pro318=)
|
rs374161818
|
0.00014
|
NM_001040108.2(MLH3):c.2327A>T (p.Asn776Ile)
|
rs150742442
|
0.00014
|
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys)
|
rs140899869
|
0.00014
|
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln)
|
rs201721635
|
0.00014
|
NM_001040108.2(MLH3):c.914T>C (p.Ile305Thr)
|
rs150796590
|
0.00014
|
NM_001041.4(SI):c.2150T>A (p.Val717Asp)
|
rs188320908
|
0.00014
|
NM_001041.4(SI):c.325G>A (p.Val109Ile)
|
rs149498200
|
0.00014
|
NM_001041.4(SI):c.3424-12T>C
|
rs77749967
|
0.00014
|
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
|
rs370336977
|
0.00014
|
NM_001041.4(SI):c.639T>C (p.Phe213=)
|
rs368517998
|
0.00014
|
NM_001042413.2(GLIS3):c.*2764C>G
|
rs565371946
|
0.00014
|
NM_001042413.2(GLIS3):c.*4017T>C
|
rs182391240
|
0.00014
|
NM_001042413.2(GLIS3):c.1227C>A (p.Asn409Lys)
|
rs534295783
|
0.00014
|
NM_001080467.3(MYO5B):c.2947G>C (p.Glu983Gln)
|
rs371584389
|
0.00014
|
NM_001080467.3(MYO5B):c.891G>A (p.Glu297=)
|
rs372125377
|
0.00014
|
NM_001109809.5(ZFP57):c.285C>T (p.Thr95=)
|
rs373253380
|
0.00014
|
NM_001166108.2(PALLD):c.*2171T>C
|
rs548951283
|
0.00014
|
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys)
|
rs776025574
|
0.00014
|
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)
|
rs140876663
|
0.00014
|
NM_001370466.1(NOD2):c.2465+2dup
|
rs748508924
|
0.00014
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
NM_001374385.1(ATP8B1):c.*1083T>C
|
rs138676107
|
0.00014
|
NM_001374385.1(ATP8B1):c.*340C>T
|
rs533724646
|
0.00014
|
NM_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_001558.4(IL10RA):c.*9G>A
|
rs377174523
|
0.00014
|
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)
|
rs201320326
|
0.00014
|
NM_002335.4(LRP5):c.295G>A (p.Val99Met)
|
rs768918663
|
0.00014
|
NM_002336.3(LRP6):c.2599A>G (p.Thr867Ala)
|
rs141458215
|
0.00014
|
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)
|
rs376258647
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val)
|
rs766276341
|
0.00014
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
NM_005544.3(IRS1):c.3235C>T (p.Pro1079Ser)
|
rs148962208
|
0.00014
|
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)
|
rs144993516
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_006206.6(PDGFRA):c.628+4C>T
|
rs368210930
|
0.00014
|
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile)
|
rs371982540
|
0.00014
|
NM_007315.4(STAT1):c.1632+6G>A
|
rs185216067
|
0.00014
|
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)
|
rs200385766
|
0.00014
|
NM_015634.4(KIFBP):c.963C>T (p.Leu321=)
|
rs201076497
|
0.00014
|
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val)
|
rs760807984
|
0.00014
|
NM_015909.4(NBAS):c.6022A>G (p.Ile2008Val)
|
rs370669818
|
0.00014
|
NM_018006.4(TRMU):c.-161A>C
|
rs886057607
|
0.00014
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
NM_022895.3(C12orf43):c.*2097G>A
|
rs750496742
|
0.00014
|
NM_025225.3(PNPLA3):c.1209C>T (p.Pro403=)
|
rs184910573
|
0.00014
|
NM_025225.3(PNPLA3):c.1419C>T (p.Pro473=)
|
rs376208148
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn)
|
rs200949109
|
0.00014
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
NM_175914.5(HNF4A):c.*3068C>T
|
rs753843962
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000097.7(CPOX):c.*506C>T
|
rs886058943
|
0.00013
|
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)
|
rs149048805
|
0.00013
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
NM_000140.5(FECH):c.819C>T (p.Gly273=)
|
rs138840143
|
0.00013
|
NM_000179.3(MSH6):c.-56G>T
|
rs886056139
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000208.4(INSR):c.*1574G>A
|
rs367868568
|
0.00013
|
NM_000208.4(INSR):c.*4696T>C
|
rs546415055
|
0.00013
|
NM_000209.4(PDX1):c.296C>A (p.Pro99His)
|
rs764870332
|
0.00013
|
NM_000222.3(KIT):c.*597C>T
|
rs746982052
|
0.00013
|
NM_000222.3(KIT):c.1045A>G (p.Ile349Val)
|
rs756286159
|
0.00013
|
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)
|
rs201165084
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr)
|
rs201862174
|
0.00013
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)
|
rs374880588
|
0.00013
|
NM_000352.6(ABCC8):c.45C>T (p.Tyr15=)
|
rs758231286
|
0.00013
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000514.4(GDNF):c.*1627C>T
|
rs748498805
|
0.00013
|
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln)
|
rs772460903
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_001041.4(SI):c.4540+4A>G
|
rs201654919
|
0.00013
|
NM_001041.4(SI):c.5108+13T>C
|
rs535082142
|
0.00013
|
NM_001042413.2(GLIS3):c.*1416G>T
|
rs775321147
|
0.00013
|
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln)
|
rs200694226
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001080467.3(MYO5B):c.*464G>A
|
rs886053868
|
0.00013
|
NM_001080467.3(MYO5B):c.2731C>T (p.Arg911Cys)
|
rs370548179
|
0.00013
|
NM_001080467.3(MYO5B):c.5041G>T (p.Val1681Leu)
|
rs200540643
|
0.00013
|
NM_001166108.2(PALLD):c.1965-12907G>A
|
rs780516159
|
0.00013
|
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr)
|
rs34318718
|
0.00013
|
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)
|
rs201607054
|
0.00013
|
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=)
|
rs758223679
|
0.00013
|
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)
|
rs104895422
|
0.00013
|
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)
|
rs199514707
|
0.00013
|
NM_001558.4(IL10RA):c.407A>G (p.Asn136Ser)
|
rs150401784
|
0.00013
|
NM_001558.4(IL10RA):c.574C>T (p.Leu192Phe)
|
rs148964568
|
0.00013
|
NM_002299.4(LCT):c.*230T>C
|
rs749324196
|
0.00013
|
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met)
|
rs140852936
|
0.00013
|
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)
|
rs144813247
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_002743.2(PRKCSH):c.-168G>A
|
rs369133175
|
0.00013
|
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)
|
rs200857579
|
0.00013
|
NM_004329.3(BMPR1A):c.*1426C>T
|
rs886047365
|
0.00013
|
NM_004655.4(AXIN2):c.119T>G (p.Val40Gly)
|
rs781560435
|
0.00013
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile)
|
rs71524358
|
0.00013
|
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp)
|
rs146401600
|
0.00013
|
NM_007214.5(SEC63):c.*1920_*1921insC
|
rs886060948
|
0.00013
|
NM_015077.4(SARM1):c.*235T>C
|
rs762983414
|
0.00013
|
NM_017763.6(RNF43):c.655C>T (p.Arg219Cys)
|
rs373068965
|
0.00013
|
NM_022895.3(C12orf43):c.*2340G>A
|
rs1026422272
|
0.00013
|
NM_025225.3(PNPLA3):c.*760T>C
|
rs545853993
|
0.00013
|
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)
|
rs551818122
|
0.00013
|
NM_080424.4(SP110):c.1591C>T (p.Arg531Trp)
|
rs200099412
|
0.00013
|
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)
|
rs539832575
|
0.00013
|
NM_175914.5(HNF4A):c.*1363C>T
|
rs769165584
|
0.00013
|
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys)
|
rs181911810
|
0.00013
|
NM_000031.6(ALAD):c.264C>T (p.Asp88=)
|
rs377534006
|
0.00012
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000111.3(SLC26A3):c.891C>T (p.Thr297=)
|
rs367700437
|
0.00012
|
NM_000130.5(F5):c.*1776A>G
|
rs567224548
|
0.00012
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00012
|
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)
|
rs368438076
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001041.4(SI):c.2159+12G>A
|
rs376831754
|
0.00012
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
NM_001042413.2(GLIS3):c.106G>A (p.Gly36Arg)
|
rs199788224
|
0.00012
|
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr)
|
rs372432070
|
0.00012
|
NM_001080467.3(MYO5B):c.4445G>A (p.Arg1482Gln)
|
rs201914259
|
0.00012
|
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr)
|
rs182571219
|
0.00012
|
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)
|
rs113706344
|
0.00012
|
NM_001374385.1(ATP8B1):c.*1676G>A
|
rs932274962
|
0.00012
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_001558.4(IL10RA):c.1057C>T (p.Pro353Ser)
|
rs35235073
|
0.00012
|
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp)
|
rs201916993
|
0.00012
|
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn)
|
rs367993015
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)
|
rs539087982
|
0.00012
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_005359.6(SMAD4):c.*1187A>G
|
rs181664459
|
0.00012
|
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro)
|
rs376341411
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)
|
rs199890118
|
0.00012
|
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)
|
rs757559474
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_007214.5(SEC63):c.*1685A>C
|
rs558069212
|
0.00012
|
NM_015077.4(SARM1):c.*2294C>T
|
rs151184490
|
0.00012
|
NM_015077.4(SARM1):c.*734G>T
|
rs782382359
|
0.00012
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)
|
rs140097468
|
0.00012
|
NM_000031.6(ALAD):c.940A>G (p.Ile314Val)
|
rs557510313
|
0.00011
|
NM_000097.7(CPOX):c.*712T>C
|
rs893225316
|
0.00011
|
NM_000140.5(FECH):c.*2079C>T
|
rs886053983
|
0.00011
|
NM_000140.5(FECH):c.*2782G>T
|
rs886053975
|
0.00011
|
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)
|
rs368003279
|
0.00011
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)
|
rs199757302
|
0.00011
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000208.4(INSR):c.*1584C>G
|
rs535755401
|
0.00011
|
NM_000208.4(INSR):c.225C>T (p.Asp75=)
|
rs41352749
|
0.00011
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
|
rs369400689
|
0.00011
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)
|
rs150316347
|
0.00011
|
NM_000352.6(ABCC8):c.4119+15C>T
|
rs58368439
|
0.00011
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)
|
rs138183896
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)
|
rs1014454531
|
0.00011
|
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_001041.4(SI):c.118+10A>G
|
rs200646132
|
0.00011
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00011
|
NM_001041.4(SI):c.4458G>A (p.Thr1486=)
|
rs140287192
|
0.00011
|
NM_001041.4(SI):c.5C>A (p.Ala2Glu)
|
rs201612742
|
0.00011
|
NM_001042413.2(GLIS3):c.*172G>C
|
rs369931287
|
0.00011
|
NM_001042413.2(GLIS3):c.*3340T>A
|
rs2297323
|
0.00011
|
NM_001042413.2(GLIS3):c.-345C>T
|
rs886063960
|
0.00011
|
NM_001042413.2(GLIS3):c.-542C>T
|
rs556257267
|
0.00011
|
NM_001042413.2(GLIS3):c.1994G>A (p.Ser665Asn)
|
rs199817194
|
0.00011
|
NM_001080467.3(MYO5B):c.*1839A>C
|
rs926646406
|
0.00011
|
NM_001080467.3(MYO5B):c.*2550G>T
|
rs113741260
|
0.00011
|
NM_001080467.3(MYO5B):c.*3124G>A
|
rs188815832
|
0.00011
|
NM_001080467.3(MYO5B):c.378C>T (p.Thr126=)
|
rs201531684
|
0.00011
|
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)
|
rs772101978
|
0.00011
|
NM_001166108.2(PALLD):c.-115C>G
|
rs189011214
|
0.00011
|
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser)
|
rs150764613
|
0.00011
|
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)
|
rs146795655
|
0.00011
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
NM_001289104.2(PRKCSH):c.*329C>A
|
rs959110177
|
0.00011
|
NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln)
|
rs374122287
|
0.00011
|
NM_001370466.1(NOD2):c.-8-2243T>C
|
rs765406921
|
0.00011
|
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)
|
rs377554134
|
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_001370466.1(NOD2):c.2840C>T (p.Ser947Phe)
|
rs200463498
|
0.00011
|
NM_001374385.1(ATP8B1):c.*426G>A
|
rs192231911
|
0.00011
|
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
NM_001384900.1(SEMA3D):c.592G>A (p.Glu198Lys)
|
rs549337695
|
0.00011
|
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met)
|
rs754693915
|
0.00011
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
NM_001558.4(IL10RA):c.931T>C (p.Leu311=)
|
rs148808529
|
0.00011
|
NM_001626.6(AKT2):c.1115C>T (p.Thr372Met)
|
rs139506765
|
0.00011
|
NM_001715.3(BLK):c.-76G>A
|
rs957686517
|
0.00011
|
NM_001715.3(BLK):c.809C>T (p.Thr270Met)
|
rs368427116
|
0.00011
|
NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)
|
rs201966419
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile)
|
rs376732886
|
0.00011
|
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe)
|
rs148462220
|
0.00011
|
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr)
|
rs199887400
|
0.00011
|
NM_002354.3(EPCAM):c.161A>G (p.Gln54Arg)
|
rs376674068
|
0.00011
|
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu)
|
rs757270167
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002500.4(NEUROD1):c.*1601C>A
|
rs929497632
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_002904.6(NELFE):c.-37C>T
|
rs886061298
|
0.00011
|
NM_003051.4(SLC16A1):c.*603T>C
|
rs527658261
|
0.00011
|
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val)
|
rs768569416
|
0.00011
|
NM_003597.5(KLF11):c.*166C>T
|
rs531131204
|
0.00011
|
NM_003742.4(ABCB11):c.1638+6C>G
|
rs886055067
|
0.00011
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
NM_004329.3(BMPR1A):c.*869T>G
|
rs913973227
|
0.00011
|
NM_004360.5(CDH1):c.*1545T>C
|
rs186584057
|
0.00011
|
NM_004360.5(CDH1):c.*8G>A
|
rs201223411
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005359.6(SMAD4):c.*1661C>A
|
rs989803194
|
0.00011
|
NM_005359.6(SMAD4):c.*2217G>A
|
rs1035391862
|
0.00011
|
NM_005359.6(SMAD4):c.*5096C>A
|
rs761008429
|
0.00011
|
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)
|
rs767561828
|
0.00011
|
NM_006206.6(PDGFRA):c.*2604G>T
|
rs547925170
|
0.00011
|
NM_006206.6(PDGFRA):c.2880+5G>A
|
rs370128852
|
0.00011
|
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)
|
rs145019788
|
0.00011
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter)
|
rs200818962
|
0.00011
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu)
|
rs140222626
|
0.00011
|
NM_015077.4(SARM1):c.*2121C>T
|
rs781824816
|
0.00011
|
NM_015077.4(SARM1):c.*502C>T
|
rs1028128966
|
0.00011
|
NM_015077.4(SARM1):c.1924-1053A>T
|
rs781937251
|
0.00011
|
NM_015634.4(KIFBP):c.116C>G (p.Ala39Gly)
|
rs372223602
|
0.00011
|
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile)
|
rs200534758
|
0.00011
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
NM_018006.5(TRMU):c.910C>G (p.Leu304Val)
|
rs200777988
|
0.00011
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_022437.3(ABCG8):c.1212-7T>A
|
rs759300542
|
0.00011
|
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)
|
rs587778575
|
0.00011
|
NM_025225.3(PNPLA3):c.1337C>T (p.Pro446Leu)
|
rs201268858
|
0.00011
|
NM_032977.4(CASP10):c.922+5G>A
|
rs559244194
|
0.00011
|
NM_053025.4(MYLK):c.-4G>A
|
rs989215521
|
0.00011
|
NM_080424.4(SP110):c.431C>A (p.Pro144His)
|
rs151199258
|
0.00011
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
NM_175914.5(HNF4A):c.*2374G>C
|
rs373068234
|
0.00011
|
NM_000031.5(ALAD):c.-197G>T
|
rs376588496
|
0.00010
|
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)
|
rs769181980
|
0.00010
|
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp)
|
rs777485356
|
0.00010
|
NM_000097.7(CPOX):c.*1174G>A
|
rs886058940
|
0.00010
|
NM_000097.7(CPOX):c.*498_*499insCA
|
rs886058944
|
0.00010
|
NM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly)
|
rs201220816
|
0.00010
|
NM_000130.5(F5):c.1128G>T (p.Arg376Ser)
|
rs373172802
|
0.00010
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)
|
rs758795781
|
0.00010
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000207.3(INS):c.*28G>A
|
rs778107057
|
0.00010
|
NM_000208.4(INSR):c.*4374G>A
|
rs886054660
|
0.00010
|
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr)
|
rs936474667
|
0.00010
|
NM_000222.3(KIT):c.*1086C>T
|
rs533152310
|
0.00010
|
NM_000222.3(KIT):c.101C>T (p.Pro34Leu)
|
rs55755457
|
0.00010
|
NM_000222.3(KIT):c.2089C>T (p.His697Tyr)
|
rs763308199
|
0.00010
|
NM_000222.3(KIT):c.2923G>A (p.Asp975Asn)
|
rs373152714
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000251.3(MSH2):c.*221G>T
|
rs587779060
|
0.00010
|
NM_000251.3(MSH2):c.-181G>A
|
rs786201698
|
0.00010
|
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln)
|
rs572115942
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
NM_000352.6(ABCC8):c.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
NM_000374.5(UROD):c.158A>G (p.Gln53Arg)
|
rs199597323
|
0.00010
|
NM_000374.5(UROD):c.745C>T (p.Arg249Trp)
|
rs137978913
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)
|
rs757441871
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser)
|
rs377129682
|
0.00010
|
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val)
|
rs201453923
|
0.00010
|
NM_001040108.2(MLH3):c.3367C>T (p.Gln1123Ter)
|
rs151133595
|
0.00010
|
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)
|
rs141450837
|
0.00010
|
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)
|
rs138927818
|
0.00010
|
NM_001042413.2(GLIS3):c.*2499T>A
|
rs886063944
|
0.00010
|
NM_001042413.2(GLIS3):c.*3576G>A
|
rs746559491
|
0.00010
|
NM_001042413.2(GLIS3):c.-344C>T
|
rs762042518
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001080467.3(MYO5B):c.*1216A>C
|
rs143821954
|
0.00010
|
NM_001080467.3(MYO5B):c.5449A>G (p.Met1817Val)
|
rs200172993
|
0.00010
|
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)
|
rs540320780
|
0.00010
|
NM_001289104.2(PRKCSH):c.-77-2A>C
|
rs201157643
|
0.00010
|
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)
|
rs143084654
|
0.00010
|
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)
|
rs104895489
|
0.00010
|
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)
|
rs104895456
|
0.00010
|
NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile)
|
rs201392345
|
0.00010
|
NM_001558.4(IL10RA):c.1432G>A (p.Gly478Arg)
|
rs755271070
|
0.00010
|
NM_001715.3(BLK):c.*229G>C
|
rs1045306871
|
0.00010
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val)
|
rs1056743758
|
0.00010
|
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)
|
rs918661445
|
0.00010
|
NM_002769.5(PRSS1):c.*8A>G
|
rs750733084
|
0.00010
|
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)
|
rs111033564
|
0.00010
|
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys)
|
rs201775810
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_003051.4(SLC16A1):c.*1801A>G
|
rs750135904
|
0.00010
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_003597.5(KLF11):c.*1386A>G
|
rs886054732
|
0.00010
|
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)
|
rs374701109
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_004329.3(BMPR1A):c.-473G>A
|
rs886047357
|
0.00010
|
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu)
|
rs191277311
|
0.00010
|
NM_005068.3(SIM1):c.1720A>G (p.Met574Val)
|
rs150382307
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005359.6(SMAD4):c.*1812T>G
|
rs557065270
|
0.00010
|
NM_005359.6(SMAD4):c.*5235C>G
|
rs755051361
|
0.00010
|
NM_005359.6(SMAD4):c.*5576C>G
|
rs886053930
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
|
rs71532861
|
0.00010
|
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)
|
rs56393026
|
0.00010
|
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His)
|
rs368266633
|
0.00010
|
NM_007214.5(SEC63):c.*874A>G
|
rs756408316
|
0.00010
|
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu)
|
rs140351189
|
0.00010
|
NM_015077.4(SARM1):c.1924-208G>C
|
rs886052738
|
0.00010
|
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser)
|
rs141793158
|
0.00010
|
NM_016356.5(DCDC2):c.770G>A (p.Arg257His)
|
rs200233521
|
0.00010
|
NM_017668.3(NDE1):c.*164A>C
|
rs370252949
|
0.00010
|
NM_017763.6(RNF43):c.667C>T (p.Arg223Cys)
|
rs755478993
|
0.00010
|
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser)
|
rs150128284
|
0.00010
|
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln)
|
rs373437260
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)
|
rs116408209
|
0.00010
|
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His)
|
rs587609362
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032830.3(UTP4):c.1165-7T>C
|
rs200957784
|
0.00010
|
NM_032830.3(UTP4):c.1444+6A>C
|
rs201088638
|
0.00010
|
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg)
|
rs761892127
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_080424.4(SP110):c.1262G>A (p.Arg421Gln)
|
rs140588937
|
0.00010
|
NM_080424.4(SP110):c.335G>A (p.Trp112Ter)
|
rs757092766
|
0.00010
|
NM_080669.6(SLC46A1):c.-67G>T
|
rs782796764
|
0.00010
|
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile)
|
rs143208167
|
0.00010
|
NM_178161.3(PTF1A):c.*283T>C
|
rs957501007
|
0.00010
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000130.5(F5):c.*1432C>T
|
rs886045536
|
0.00009
|
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)
|
rs369516642
|
0.00009
|
NM_000140.5(FECH):c.*1950A>G
|
rs886053985
|
0.00009
|
NM_000140.5(FECH):c.*1966G>T
|
rs779669357
|
0.00009
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)
|
rs142391704
|
0.00009
|
NM_000208.4(INSR):c.575G>A (p.Gly192Asp)
|
rs143919163
|
0.00009
|
NM_000222.3(KIT):c.1091A>G (p.Lys364Arg)
|
rs375734891
|
0.00009
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)
|
rs367719489
|
0.00009
|
NM_000249.3(MLH1):c.-101C>G
|
rs772482820
|
0.00009
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.-29C>T
|
rs199841800
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000251.3(MSH2):c.1276+11A>G
|
rs189015988
|
0.00009
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)
|
rs777228104
|
0.00009
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)
|
rs17846762
|
0.00009
|
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)
|
rs373477107
|
0.00009
|
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)
|
rs532332220
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)
|
rs143033456
|
0.00009
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000514.4(GDNF):c.*2651C>G
|
rs369707461
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)
|
rs748877741
|
0.00009
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)
|
rs772222326
|
0.00009
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
NM_000572.3(IL10):c.530G>A (p.Arg177Gln)
|
rs376415487
|
0.00009
|
NM_000628.5(IL10RB):c.548C>G (p.Pro183Arg)
|
rs141328537
|
0.00009
|
NM_001040108.2(MLH3):c.*1110T>C
|
rs774420872
|
0.00009
|
NM_001040108.2(MLH3):c.2435G>C (p.Ser812Thr)
|
rs763408801
|
0.00009
|
NM_001041.4(SI):c.*217A>C
|
rs577252976
|
0.00009
|
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)
|
rs149898910
|
0.00009
|
NM_001041.4(SI):c.749G>A (p.Arg250His)
|
rs530009542
|
0.00009
|
NM_001042413.2(GLIS3):c.*701T>C
|
rs775238983
|
0.00009
|
NM_001042413.2(GLIS3):c.105C>T (p.Ser35=)
|
rs372340726
|
0.00009
|
NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile)
|
rs201804281
|
0.00009
|
NM_001042413.2(GLIS3):c.2531T>C (p.Ile844Thr)
|
rs193061752
|
0.00009
|
NM_001042413.2(GLIS3):c.2538G>A (p.Pro846=)
|
rs144648063
|
0.00009
|
NM_001042413.2(GLIS3):c.2753G>A (p.Arg918His)
|
rs147357710
|
0.00009
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001080467.3(MYO5B):c.*1718C>T
|
rs1250533232
|
0.00009
|
NM_001080467.3(MYO5B):c.-48C>G
|
rs534802208
|
0.00009
|
NM_001080467.3(MYO5B):c.2043C>T (p.Cys681=)
|
rs2969930
|
0.00009
|
NM_001080467.3(MYO5B):c.576C>T (p.Ile192=)
|
rs369744590
|
0.00009
|
NM_001122764.3(PPOX):c.360C>T (p.Pro120=)
|
rs148730591
|
0.00009
|
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile)
|
rs746640449
|
0.00009
|
NM_001166108.2(PALLD):c.-135A>G
|
rs540285834
|
0.00009
|
NM_001166108.2(PALLD):c.1966G>A (p.Gly656Arg)
|
rs149631023
|
0.00009
|
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys)
|
rs374741161
|
0.00009
|
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)
|
rs375269956
|
0.00009
|
NM_001370466.1(NOD2):c.*1013A>G
|
rs549273021
|
0.00009
|
NM_001370466.1(NOD2):c.1943C>T (p.Ala648Val)
|
rs138958152
|
0.00009
|
NM_001370466.1(NOD2):c.590C>T (p.Ala197Val)
|
rs375336137
|
0.00009
|
NM_001374385.1(ATP8B1):c.*1133A>G
|
rs997437548
|
0.00009
|
NM_001374385.1(ATP8B1):c.*676G>A
|
rs959189849
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
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_001558.4(IL10RA):c.788G>A (p.Arg263Gln)
|
rs145975996
|
0.00009
|
NM_001715.3(BLK):c.620-11C>T
|
rs764915190
|
0.00009
|
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser)
|
rs201793593
|
0.00009
|
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr)
|
rs113007633
|
0.00009
|
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu)
|
rs80291963
|
0.00009
|
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys)
|
rs543584983
|
0.00009
|
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)
|
rs147634094
|
0.00009
|
NM_002769.5(PRSS1):c.40+1G>A
|
rs149125789
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_002769.5(PRSS1):c.487G>A (p.Ala163Thr)
|
rs557691366
|
0.00009
|
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala)
|
rs748048199
|
0.00009
|
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)
|
rs146486664
|
0.00009
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
NM_003742.4(ABCB11):c.*316G>A
|
rs560085646
|
0.00009
|
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)
|
rs11568370
|
0.00009
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
NM_003924.4(PHOX2B):c.*1310G>T
|
rs180795407
|
0.00009
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
NM_004498.4(ONECUT1):c.242G>A (p.Gly81Asp)
|
rs142641519
|
0.00009
|
NM_004852.3(ONECUT2):c.491C>G (p.Ser164Cys)
|
rs200319925
|
0.00009
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
NM_005359.6(SMAD4):c.*3763C>T
|
rs571174422
|
0.00009
|
NM_005359.6(SMAD4):c.*969A>G
|
rs745934938
|
0.00009
|
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala)
|
rs767366742
|
0.00009
|
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr)
|
rs201335980
|
0.00009
|
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)
|
rs754092062
|
0.00009
|
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met)
|
rs779332376
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)
|
rs200678111
|
0.00009
|
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)
|
rs761546594
|
0.00009
|
NM_007272.3(CTRC):c.792+12C>A
|
rs371799801
|
0.00009
|
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala)
|
rs186169356
|
0.00009
|
NM_015077.4(SARM1):c.1924-572G>C
|
rs561043242
|
0.00009
|
NM_017763.6(RNF43):c.1039G>A (p.Gly347Ser)
|
rs780224400
|
0.00009
|
NM_017763.6(RNF43):c.1705C>T (p.Pro569Ser)
|
rs62636626
|
0.00009
|
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)
|
rs142346622
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)
|
rs377433853
|
0.00009
|
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)
|
rs199585130
|
0.00009
|
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His)
|
rs201968231
|
0.00009
|
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)
|
rs143197714
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_025225.3(PNPLA3):c.414C>T (p.Val138=)
|
rs768191646
|
0.00009
|
NM_032830.3(UTP4):c.1451T>G (p.Val484Gly)
|
rs199824083
|
0.00009
|
NM_032830.3(UTP4):c.1536C>T (p.Asn512=)
|
rs144493973
|
0.00009
|
NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys)
|
rs761295812
|
0.00009
|
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)
|
rs139817477
|
0.00009
|
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys)
|
rs368321325
|
0.00009
|
NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser)
|
rs577501563
|
0.00009
|
NM_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_207034.3(EDN3):c.-85G>A
|
rs886056873
|
0.00009
|
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)
|
rs372958987
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000190.4(HMBS):c.798C>T (p.Ala266=)
|
rs375078473
|
0.00008
|
NM_000208.4(INSR):c.*97A>G
|
rs1030133375
|
0.00008
|
NM_000208.4(INSR):c.*999A>G
|
rs372034184
|
0.00008
|
NM_000208.4(INSR):c.2596G>A (p.Val866Ile)
|
rs200110540
|
0.00008
|
NM_000208.4(INSR):c.2829C>T (p.Tyr943=)
|
rs376766937
|
0.00008
|
NM_000222.3(KIT):c.*17G>A
|
rs377596175
|
0.00008
|
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln)
|
rs139694927
|
0.00008
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)
|
rs751249745
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)
|
rs535265672
|
0.00008
|
NM_000343.4(SLC5A1):c.*636A>G
|
rs932433422
|
0.00008
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)
|
rs150956385
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)
|
rs377045545
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
|
rs562680077
|
0.00008
|
NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)
|
rs544133684
|
0.00008
|
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)
|
rs770317560
|
0.00008
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
NM_000384.3(APOB):c.2160C>T (p.Tyr720=)
|
rs756184175
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)
|
rs770375846
|
0.00008
|
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)
|
rs201264306
|
0.00008
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000628.5(IL10RB):c.*536G>T
|
rs750248101
|
0.00008
|
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
|
rs145913658
|
0.00008
|
NM_001041.4(SI):c.3905G>C (p.Gly1302Ala)
|
rs780497188
|
0.00008
|
NM_001041.4(SI):c.801T>C (p.Pro267=)
|
rs752564085
|
0.00008
|
NM_001041.4(SI):c.808-14T>A
|
rs762854920
|
0.00008
|
NM_001042413.2(GLIS3):c.*3011C>T
|
rs777209130
|
0.00008
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001080467.3(MYO5B):c.*737A>G
|
rs781628891
|
0.00008
|
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=)
|
rs138687424
|
0.00008
|
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys)
|
rs372708613
|
0.00008
|
NM_001366110.1(PAX4):c.14-51G>A
|
rs878919319
|
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_001370466.1(NOD2):c.2446G>A (p.Glu816Lys)
|
rs104895445
|
0.00008
|
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr)
|
rs146513720
|
0.00008
|
NM_001715.3(BLK):c.-124C>T
|
rs886062593
|
0.00008
|
NM_001868.4(CPA1):c.1145G>A (p.Arg382Gln)
|
rs782284762
|
0.00008
|
NM_001868.4(CPA1):c.696G>A (p.Thr232=)
|
rs150092860
|
0.00008
|
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val)
|
rs369747444
|
0.00008
|
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser)
|
rs142001526
|
0.00008
|
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)
|
rs553877450
|
0.00008
|
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)
|
rs145074004
|
0.00008
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
NM_002711.4(PPP1R3A):c.1040T>C (p.Val347Ala)
|
rs372606055
|
0.00008
|
NM_002769.5(PRSS1):c.284G>A (p.Arg95His)
|
rs375820192
|
0.00008
|
NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile)
|
rs371598292
|
0.00008
|
NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr)
|
rs375942302
|
0.00008
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
NM_004655.4(AXIN2):c.917C>T (p.Ala306Val)
|
rs151247101
|
0.00008
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val)
|
rs574657627
|
0.00008
|
NM_006206.6(PDGFRA):c.499G>A (p.Val167Met)
|
rs587778602
|
0.00008
|
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)
|
rs750660271
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_007214.5(SEC63):c.*3819A>G
|
rs1030448903
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_013372.7(GREM1):c.307A>G (p.Ile103Val)
|
rs370674293
|
0.00008
|
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile)
|
rs367860281
|
0.00008
|
NM_015077.4(SARM1):c.1924-234T>A
|
rs1031838882
|
0.00008
|
NM_015634.4(KIFBP):c.*523C>T
|
rs980209545
|
0.00008
|
NM_018006.5(TRMU):c.-19G>C
|
rs886057609
|
0.00008
|
NM_018006.5(TRMU):c.83-9C>T
|
rs374612111
|
0.00008
|
NM_020975.6(RET):c.1879+13C>T
|
rs375573788
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
NM_053025.4(MYLK):c.2462+5G>A
|
rs374003770
|
0.00008
|
NM_080424.4(SP110):c.1343G>A (p.Arg448Gln)
|
rs201853984
|
0.00008
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
NM_153758.5(IL19):c.-149+272T>C
|
rs749041176
|
0.00008
|
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile)
|
rs1162744670
|
0.00008
|
NM_207034.3(EDN3):c.-86G>A
|
rs755284881
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000111.3(SLC26A3):c.1234-9T>A
|
rs763953558
|
0.00007
|
NM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn)
|
rs150004100
|
0.00007
|
NM_000115.5(EDNRB):c.-161C>T
|
rs1045550076
|
0.00007
|
NM_000140.5(FECH):c.*5349C>T
|
rs189146107
|
0.00007
|
NM_000140.5(FECH):c.959A>G (p.Lys320Arg)
|
rs371224528
|
0.00007
|
NM_000141.5(FGFR2):c.182G>A (p.Arg61His)
|
rs199575491
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000208.4(INSR):c.*2568G>A
|
rs973027799
|
0.00007
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_000222.3(KIT):c.230A>G (p.Asn77Ser)
|
rs371353189
|
0.00007
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
|
rs746875668
|
0.00007
|
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)
|
rs199948654
|
0.00007
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
|
rs367711698
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000352.3(ABCC8):c.-113G>A
|
rs886048056
|
0.00007
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000352.6(ABCC8):c.2094C>T (p.Asn698=)
|
rs757172850
|
0.00007
|
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)
|
rs200693100
|
0.00007
|
NM_000352.6(ABCC8):c.393C>T (p.Asn131=)
|
rs372524091
|
0.00007
|
NM_000463.3(UGT1A1):c.*84T>C
|
rs78684540
|
0.00007
|
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)
|
rs370790922
|
0.00007
|
NM_000525.4(KCNJ11):c.726C>T (p.Asn242=)
|
rs72554078
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln)
|
rs371682056
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)
|
rs775391034
|
0.00007
|
NM_000572.3(IL10):c.343A>T (p.Asn115Tyr)
|
rs150423829
|
0.00007
|
NM_000628.5(IL10RB):c.804+8G>A
|
rs112943706
|
0.00007
|
NM_000628.5(IL10RB):c.946G>A (p.Gly316Arg)
|
rs370841672
|
0.00007
|
NM_001040108.2(MLH3):c.*1447C>T
|
rs1351576949
|
0.00007
|
NM_001040108.2(MLH3):c.*646G>A
|
rs754358704
|
0.00007
|
NM_001040108.2(MLH3):c.3101C>G (p.Thr1034Ser)
|
rs557921152
|
0.00007
|
NM_001040108.2(MLH3):c.3248C>A (p.Thr1083Lys)
|
rs561184221
|
0.00007
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
NM_001040108.2(MLH3):c.4268G>A (p.Arg1423His)
|
rs752635498
|
0.00007
|
NM_001040108.2(MLH3):c.82G>T (p.Glu28Ter)
|
rs780501758
|
0.00007
|
NM_001042413.2(GLIS3):c.*3330G>A
|
rs886063939
|
0.00007
|
NM_001042413.2(GLIS3):c.1988G>A (p.Arg663Gln)
|
rs144720690
|
0.00007
|
NM_001042413.2(GLIS3):c.2027G>T (p.Cys676Phe)
|
rs149983395
|
0.00007
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
NM_001080467.3(MYO5B):c.471G>A (p.Gln157=)
|
rs370574448
|
0.00007
|
NM_001109809.5(ZFP57):c.749G>A (p.Arg250His)
|
rs199589695
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001166108.2(PALLD):c.1965-12748G>C
|
rs551131343
|
0.00007
|
NM_001166108.2(PALLD):c.1975A>G (p.Lys659Glu)
|
rs370768506
|
0.00007
|
NM_001166108.2(PALLD):c.2627G>A (p.Arg876His)
|
rs115274645
|
0.00007
|
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)
|
rs150295715
|
0.00007
|
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu)
|
rs370857637
|
0.00007
|
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser)
|
rs767197520
|
0.00007
|
NM_001370466.1(NOD2):c.623G>A (p.Arg208His)
|
rs201790577
|
0.00007
|
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys)
|
rs202190367
|
0.00007
|
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val)
|
rs369553314
|
0.00007
|
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)
|
rs200114105
|
0.00007
|
NM_001558.4(IL10RA):c.336C>T (p.Thr112=)
|
rs192749274
|
0.00007
|
NM_001807.6(CEL):c.709A>G (p.Ile237Val)
|
rs368907057
|
0.00007
|
NM_001868.4(CPA1):c.859A>G (p.Lys287Glu)
|
rs550709882
|
0.00007
|
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln)
|
rs770223547
|
0.00007
|
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met)
|
rs200416179
|
0.00007
|
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys)
|
rs139847357
|
0.00007
|
NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys)
|
rs140550319
|
0.00007
|
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)
|
rs767837260
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
NM_003183.6(ADAM17):c.2174G>A (p.Arg725His)
|
rs147275585
|
0.00007
|
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg)
|
rs139401611
|
0.00007
|
NM_003597.5(KLF11):c.*1301C>G
|
rs886054731
|
0.00007
|
NM_003597.5(KLF11):c.*217G>T
|
rs201145049
|
0.00007
|
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)
|
rs766187124
|
0.00007
|
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val)
|
rs372886308
|
0.00007
|
NM_004174.4(SLC9A3):c.1212T>C (p.Ile404=)
|
rs201331870
|
0.00007
|
NM_004329.3(BMPR1A):c.-336C>T
|
rs371471802
|
0.00007
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr)
|
rs141260153
|
0.00007
|
NM_005359.6(SMAD4):c.*5542C>T
|
rs778816929
|
0.00007
|
NM_005359.6(SMAD4):c.*5833G>A
|
rs190039588
|
0.00007
|
NM_006005.3(WFS1):c.1633G>A (p.Val545Met)
|
rs201993978
|
0.00007
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
NM_006206.6(PDGFRA):c.1424A>C (p.Glu475Ala)
|
rs780125769
|
0.00007
|
NM_006206.6(PDGFRA):c.820A>T (p.Thr274Ser)
|
rs747956260
|
0.00007
|
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)
|
rs201519006
|
0.00007
|
NM_007214.5(SEC63):c.*2131C>T
|
rs935591622
|
0.00007
|
NM_007272.3(CTRC):c.355C>T (p.Arg119Cys)
|
rs768853400
|
0.00007
|
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys)
|
rs764908785
|
0.00007
|
NM_007315.4(STAT1):c.1127+4C>T
|
rs372508550
|
0.00007
|
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr)
|
rs782640594
|
0.00007
|
NM_015077.4(SARM1):c.*91G>A
|
rs539239937
|
0.00007
|
NM_017763.6(RNF43):c.1027C>T (p.Arg343Cys)
|
rs369745984
|
0.00007
|
NM_017763.6(RNF43):c.343G>T (p.Ala115Ser)
|
rs201364571
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.3026T>C (p.Met1009Thr)
|
rs375213011
|
0.00007
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
NM_024079.5(ALG8):c.1349+5T>C
|
rs886048685
|
0.00007
|
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr)
|
rs148354054
|
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_080669.6(SLC46A1):c.849G>A (p.Gly283=)
|
rs782306668
|
0.00007
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
NM_175914.5(HNF4A):c.*3018G>A
|
rs533361991
|
0.00007
|
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)
|
rs1443229654
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_000031.5(ALAD):c.-160_-159insA
|
rs886063365
|
0.00006
|
NM_000031.6(ALAD):c.16G>A (p.Val6Ile)
|
rs766501537
|
0.00006
|
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys)
|
rs777664535
|
0.00006
|
NM_000031.6(ALAD):c.501G>A (p.Pro167=)
|
rs376714503
|
0.00006
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000097.7(CPOX):c.-86C>T
|
rs983628005
|
0.00006
|
NM_000097.7(CPOX):c.47T>G (p.Val16Gly)
|
rs941183666
|
0.00006
|
NM_000111.3(SLC26A3):c.1744C>G (p.Gln582Glu)
|
rs778338646
|
0.00006
|
NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=)
|
rs386833490
|
0.00006
|
NM_000115.5(EDNRB):c.-153C>T
|
rs569770148
|
0.00006
|
NM_000130.5(F5):c.*1170G>A
|
rs191866237
|
0.00006
|
NM_000130.5(F5):c.*149C>G
|
rs534748300
|
0.00006
|
NM_000130.5(F5):c.*1715T>G
|
rs763562497
|
0.00006
|
NM_000130.5(F5):c.*288T>C
|
rs116921763
|
0.00006
|
NM_000130.5(F5):c.*75G>A
|
rs1001647624
|
0.00006
|
NM_000130.5(F5):c.*762G>A
|
rs753366128
|
0.00006
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
NM_000130.5(F5):c.5534A>G (p.His1845Arg)
|
rs200865371
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)
|
rs770386388
|
0.00006
|
NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)
|
rs786204127
|
0.00006
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)
|
rs63749919
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu)
|
rs148084355
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000207.3(INS):c.*2C>T
|
rs200306755
|
0.00006
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
NM_000208.4(INSR):c.*1137A>G
|
rs192753442
|
0.00006
|
NM_000208.4(INSR):c.*2023A>G
|
rs754015320
|
0.00006
|
NM_000208.4(INSR):c.*2322G>A
|
rs561917859
|
0.00006
|
NM_000208.4(INSR):c.*3019C>A
|
rs1037171690
|
0.00006
|
NM_000208.4(INSR):c.1628C>T (p.Thr543Met)
|
rs767160876
|
0.00006
|
NM_000208.4(INSR):c.221G>A (p.Arg74Gln)
|
rs766295952
|
0.00006
|
NM_000208.4(INSR):c.2280A>G (p.Lys760=)
|
rs373695282
|
0.00006
|
NM_000208.4(INSR):c.2682+7C>T
|
rs200618148
|
0.00006
|
NM_000208.4(INSR):c.2853G>A (p.Pro951=)
|
rs200564313
|
0.00006
|
NM_000208.4(INSR):c.3370-12T>G
|
rs200201955
|
0.00006
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000222.3(KIT):c.106C>T (p.Pro36Ser)
|
rs781633384
|
0.00006
|
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro)
|
rs145183977
|
0.00006
|
NM_000222.3(KIT):c.2683G>A (p.Ala895Thr)
|
rs774405431
|
0.00006
|
NM_000222.3(KIT):c.2920G>A (p.Asp974Asn)
|
rs72549297
|
0.00006
|
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)
|
rs202052259
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)
|
rs63751069
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.1(MSH2):c.-182C>T
|
rs876658327
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)
|
rs63750902
|
0.00006
|
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)
|
rs140703161
|
0.00006
|
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
|
rs747153540
|
0.00006
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys)
|
rs370423261
|
0.00006
|
NM_000343.4(SLC5A1):c.*1053G>A
|
rs376345201
|
0.00006
|
NM_000343.4(SLC5A1):c.*1559C>T
|
rs372572143
|
0.00006
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala)
|
rs200105476
|
0.00006
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
0.00006
|
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)
|
rs775001123
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.2222+12A>G
|
rs534103042
|
0.00006
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
|
rs765043940
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp)
|
rs773087569
|
0.00006
|
NM_000374.5(UROD):c.*45C>T
|
rs371078664
|
0.00006
|
NM_000374.5(UROD):c.27G>C (p.Gln9His)
|
rs150027651
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)
|
rs545534537
|
0.00006
|
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)
|
rs376825608
|
0.00006
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
NM_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000463.3(UGT1A1):c.*269C>T
|
rs762669023
|
0.00006
|
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr)
|
rs775532505
|
0.00006
|
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)
|
rs375974892
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.489+87A>G
|
rs969399514
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000514.4(GDNF):c.*2318G>A
|
rs773021483
|
0.00006
|
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser)
|
rs777451569
|
0.00006
|
NM_000525.4(KCNJ11):c.*1055T>A
|
rs886048032
|
0.00006
|
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)
|
rs529884745
|
0.00006
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp)
|
rs587780040
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)
|
rs757068809
|
0.00006
|
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)
|
rs376832928
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000545.8(HNF1A):c.954C>T (p.His318=)
|
rs193922607
|
0.00006
|
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)
|
rs538619966
|
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.575G>A (p.Arg192Gln)
|
rs147402422
|
0.00006
|
NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys)
|
rs45469692
|
0.00006
|
NM_001040108.2(MLH3):c.1651C>T (p.Pro551Ser)
|
rs902755970
|
0.00006
|
NM_001040108.2(MLH3):c.2224C>T (p.Arg742Cys)
|
rs774817891
|
0.00006
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
NM_001040108.2(MLH3):c.3197C>T (p.Thr1066Ile)
|
rs41564213
|
0.00006
|
NM_001040108.2(MLH3):c.3455G>A (p.Arg1152His)
|
rs374041909
|
0.00006
|
NM_001040108.2(MLH3):c.3466G>A (p.Val1156Ile)
|
rs184741686
|
0.00006
|
NM_001040108.2(MLH3):c.617A>G (p.Asp206Gly)
|
rs764643218
|
0.00006
|
NM_001040108.2(MLH3):c.728C>T (p.Ala243Val)
|
rs200344425
|
0.00006
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
NM_001042413.2(GLIS3):c.*1208C>T
|
rs970575821
|
0.00006
|
NM_001042413.2(GLIS3):c.*1276G>C
|
rs1417359233
|
0.00006
|
NM_001042413.2(GLIS3):c.*1765G>A
|
rs140493802
|
0.00006
|
NM_001042413.2(GLIS3):c.*2759A>C
|
rs147724058
|
0.00006
|
NM_001042413.2(GLIS3):c.-79G>A
|
rs886063956
|
0.00006
|
NM_001042413.2(GLIS3):c.141G>A (p.Ser47=)
|
rs201142941
|
0.00006
|
NM_001042413.2(GLIS3):c.2077G>A (p.Ala693Thr)
|
rs568262538
|
0.00006
|
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu)
|
rs779354091
|
0.00006
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser)
|
rs369973885
|
0.00006
|
NM_001080467.3(MYO5B):c.*866C>A
|
rs886053867
|
0.00006
|
NM_001080467.3(MYO5B):c.1215G>A (p.Ala405=)
|
rs781209064
|
0.00006
|
NM_001080467.3(MYO5B):c.1322+12G>A
|
rs202159934
|
0.00006
|
NM_001080467.3(MYO5B):c.2327G>A (p.Arg776Gln)
|
rs183277668
|
0.00006
|
NM_001080467.3(MYO5B):c.455+8T>C
|
rs373498192
|
0.00006
|
NM_001080467.3(MYO5B):c.5269G>A (p.Ala1757Thr)
|
rs200931302
|
0.00006
|
NM_001080467.3(MYO5B):c.541G>A (p.Ala181Thr)
|
rs377138861
|
0.00006
|
NM_001109809.5(ZFP57):c.553A>G (p.Ser185Gly)
|
rs755902229
|
0.00006
|
NM_001122659.3(EDNRB):c.*1844A>G
|
rs201311811
|
0.00006
|
NM_001122764.3(PPOX):c.1248+4A>G
|
rs775748399
|
0.00006
|
NM_001122764.3(PPOX):c.936G>A (p.Val312=)
|
rs751511778
|
0.00006
|
NM_001166108.2(PALLD):c.*108C>T
|
rs863224704
|
0.00006
|
NM_001166108.2(PALLD):c.*2070G>C
|
rs886059217
|
0.00006
|
NM_001166108.2(PALLD):c.1965-12705C>T
|
rs774034818
|
0.00006
|
NM_001166108.2(PALLD):c.2635T>G (p.Cys879Gly)
|
rs368472947
|
0.00006
|
NM_001166108.2(PALLD):c.3134G>A (p.Arg1045Gln)
|
rs758408204
|
0.00006
|
NM_001166108.2(PALLD):c.428G>A (p.Arg143His)
|
rs149345491
|
0.00006
|
NM_001289104.2(PRKCSH):c.*17-12C>G
|
rs968650873
|
0.00006
|
NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp)
|
rs370840119
|
0.00006
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr)
|
rs754270929
|
0.00006
|
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)
|
rs104895453
|
0.00006
|
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly)
|
rs545734771
|
0.00006
|
NM_001370466.1(NOD2):c.2717+2T>A
|
rs1309535620
|
0.00006
|
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)
|
rs560242309
|
0.00006
|
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)
|
rs200261147
|
0.00006
|
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=)
|
rs776385207
|
0.00006
|
NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr)
|
rs756439394
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr)
|
rs373011963
|
0.00006
|
NM_001386140.1(MTTP):c.*1118C>T
|
rs144013236
|
0.00006
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00006
|
NM_001386140.1(MTTP):c.393+11G>A
|
rs367982075
|
0.00006
|
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)
|
rs375982037
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln)
|
rs200841053
|
0.00006
|
NM_001558.4(IL10RA):c.*676C>T
|
rs756303257
|
0.00006
|
NM_001558.4(IL10RA):c.1087_1095del (p.Gly363_Ser365del)
|
rs56384274
|
0.00006
|
NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met)
|
rs370255112
|
0.00006
|
NM_001558.4(IL10RA):c.289C>T (p.Arg97Trp)
|
rs374330101
|
0.00006
|
NM_001558.4(IL10RA):c.734T>C (p.Leu245Pro)
|
rs757461404
|
0.00006
|
NM_001558.4(IL10RA):c.751G>A (p.Ala251Thr)
|
rs758334771
|
0.00006
|
NM_001558.4(IL10RA):c.785G>A (p.Arg262His)
|
rs202121581
|
0.00006
|
NM_001558.4(IL10RA):c.851G>A (p.Arg284His)
|
rs576666901
|
0.00006
|
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu)
|
rs749622044
|
0.00006
|
NM_001715.3(BLK):c.*324G>A
|
rs886062600
|
0.00006
|
NM_001807.6(CEL):c.860C>T (p.Thr287Met)
|
rs773990119
|
0.00006
|
NM_001868.4(CPA1):c.419C>T (p.Pro140Leu)
|
rs1186893434
|
0.00006
|
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)
|
rs377102890
|
0.00006
|
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser)
|
rs774097621
|
0.00006
|
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val)
|
rs201576246
|
0.00006
|
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys)
|
rs759674127
|
0.00006
|
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile)
|
rs376914943
|
0.00006
|
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys)
|
rs377258285
|
0.00006
|
NM_002335.4(LRP5):c.4096G>A (p.Asp1366Asn)
|
rs779534615
|
0.00006
|
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=)
|
rs368178411
|
0.00006
|
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val)
|
rs753256748
|
0.00006
|
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu)
|
rs377323023
|
0.00006
|
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)
|
rs147494515
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002500.5(NEUROD1):c.*907T>C
|
rs747758950
|
0.00006
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly)
|
rs376907511
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002772.3(TMPRSS15):c.1391A>G (p.Tyr464Cys)
|
rs781154385
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003051.4(SLC16A1):c.*946G>A
|
rs867810008
|
0.00006
|
NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val)
|
rs143293318
|
0.00006
|
NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser)
|
rs554069834
|
0.00006
|
NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys)
|
rs549183501
|
0.00006
|
NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu)
|
rs747645870
|
0.00006
|
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr)
|
rs146033784
|
0.00006
|
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg)
|
rs775793715
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)
|
rs199624763
|
0.00006
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003924.4(PHOX2B):c.*1627G>A
|
rs886059411
|
0.00006
|
NM_003924.4(PHOX2B):c.*1701A>G
|
rs886059409
|
0.00006
|
NM_003924.4(PHOX2B):c.-105G>A
|
rs538445545
|
0.00006
|
NM_004329.3(BMPR1A):c.*67T>G
|
rs560698193
|
0.00006
|
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)
|
rs587781556
|
0.00006
|
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)
|
rs750840234
|
0.00006
|
NM_004360.5(CDH1):c.*1076T>C
|
rs541517386
|
0.00006
|
NM_004360.5(CDH1):c.*192C>T
|
rs576309125
|
0.00006
|
NM_004360.5(CDH1):c.*575A>C
|
rs886052242
|
0.00006
|
NM_004360.5(CDH1):c.*615G>A
|
rs148655354
|
0.00006
|
NM_004360.5(CDH1):c.*959C>A
|
rs886052243
|
0.00006
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
NM_004972.4(JAK2):c.*1337T>C
|
rs1057515601
|
0.00006
|
NM_005068.3(SIM1):c.1649G>A (p.Arg550His)
|
rs137870558
|
0.00006
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
NM_005359.6(SMAD4):c.*2793T>G
|
rs886053909
|
0.00006
|
NM_005359.6(SMAD4):c.*5745T>C
|
rs780866822
|
0.00006
|
NM_005359.6(SMAD4):c.*81T>G
|
rs886053894
|
0.00006
|
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys)
|
rs181988441
|
0.00006
|
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys)
|
rs144452795
|
0.00006
|
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)
|
rs371911218
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)
|
rs146670741
|
0.00006
|
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln)
|
rs140667597
|
0.00006
|
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg)
|
rs758613421
|
0.00006
|
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)
|
rs148611943
|
0.00006
|
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)
|
rs200775335
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_006005.3(WFS1):c.449C>T (p.Ala150Val)
|
rs113651985
|
0.00006
|
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu)
|
rs767957602
|
0.00006
|
NM_006005.3(WFS1):c.656T>C (p.Val219Ala)
|
rs373662682
|
0.00006
|
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly)
|
rs769151204
|
0.00006
|
NM_006005.3(WFS1):c.862-3C>G
|
rs201889635
|
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.1605G>T (p.Leu535Phe)
|
rs779575357
|
0.00006
|
NM_006206.6(PDGFRA):c.1850G>A (p.Arg617Gln)
|
rs377318745
|
0.00006
|
NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn)
|
rs371065167
|
0.00006
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
NM_006206.6(PDGFRA):c.2935C>T (p.Arg979Cys)
|
rs587778597
|
0.00006
|
NM_006206.6(PDGFRA):c.2957A>G (p.Asn986Ser)
|
rs372859148
|
0.00006
|
NM_006206.6(PDGFRA):c.3193G>A (p.Glu1065Lys)
|
rs369389595
|
0.00006
|
NM_006206.6(PDGFRA):c.772A>G (p.Ile258Val)
|
rs1039985533
|
0.00006
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)
|
rs187764662
|
0.00006
|
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)
|
rs147798392
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
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_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007214.5(SEC63):c.*3032A>G
|
rs923296669
|
0.00006
|
NM_007214.5(SEC63):c.*3704C>G
|
rs554141897
|
0.00006
|
NM_007214.5(SEC63):c.*3772G>A
|
rs886060935
|
0.00006
|
NM_007272.3(CTRC):c.161C>T (p.Thr54Met)
|
rs559326793
|
0.00006
|
NM_007272.3(CTRC):c.39T>C (p.Cys13=)
|
rs747431847
|
0.00006
|
NM_007272.3(CTRC):c.41-5C>A
|
rs781284605
|
0.00006
|
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu)
|
rs759722579
|
0.00006
|
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu)
|
rs768483703
|
0.00006
|
NM_007315.4(STAT1):c.542-3T>C
|
rs377490932
|
0.00006
|
NM_015077.4(SARM1):c.*2276T>C
|
rs782533706
|
0.00006
|
NM_015077.4(SARM1):c.*2308C>T
|
rs535633260
|
0.00006
|
NM_015077.4(SARM1):c.*2585A>C
|
rs886052750
|
0.00006
|
NM_015077.4(SARM1):c.*2894C>T
|
rs893997849
|
0.00006
|
NM_015077.4(SARM1):c.*3359G>A
|
rs782615925
|
0.00006
|
NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile)
|
rs561448573
|
0.00006
|
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser)
|
rs1056029060
|
0.00006
|
NM_017763.6(RNF43):c.1969C>T (p.Arg657Trp)
|
rs766439784
|
0.00006
|
NM_018006.5(TRMU):c.1018+9C>T
|
rs373346869
|
0.00006
|
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)
|
rs751248771
|
0.00006
|
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys)
|
rs764958201
|
0.00006
|
NM_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_020975.6(RET):c.736C>A (p.His246Asn)
|
rs780756440
|
0.00006
|
NM_022895.3(C12orf43):c.*2570C>G
|
rs868177605
|
0.00006
|
NM_024079.5(ALG8):c.-7C>T
|
rs542407081
|
0.00006
|
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser)
|
rs781872271
|
0.00006
|
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)
|
rs373035180
|
0.00006
|
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His)
|
rs202022988
|
0.00006
|
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr)
|
rs369664394
|
0.00006
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_025225.3(PNPLA3):c.*960T>G
|
rs886057603
|
0.00006
|
NM_025225.3(PNPLA3):c.1338G>A (p.Pro446=)
|
rs753625728
|
0.00006
|
NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp)
|
rs200528261
|
0.00006
|
NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter)
|
rs753837923
|
0.00006
|
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala)
|
rs374420141
|
0.00006
|
NM_053025.4(MYLK):c.2627G>A (p.Arg876His)
|
rs537224715
|
0.00006
|
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)
|
rs202223681
|
0.00006
|
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys)
|
rs559933360
|
0.00006
|
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu)
|
rs150096018
|
0.00006
|
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)
|
rs200397055
|
0.00006
|
NM_080424.4(SP110):c.293C>T (p.Thr98Met)
|
rs755163914
|
0.00006
|
NM_080424.4(SP110):c.370C>T (p.Pro124Ser)
|
rs1158665994
|
0.00006
|
NM_080424.4(SP110):c.544C>T (p.Pro182Ser)
|
rs199978387
|
0.00006
|
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn)
|
rs201540617
|
0.00006
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_175914.5(HNF4A):c.*1821C>T
|
rs886056686
|
0.00006
|
NM_175914.5(HNF4A):c.321C>T (p.Ala107=)
|
rs138290205
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_175914.5(HNF4A):c.624C>T (p.Leu208=)
|
rs759084238
|
0.00006
|
NM_207034.3(EDN3):c.*916G>A
|
rs1038241486
|
0.00006
|
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)
|
rs374697035
|
0.00006
|
NM_000031.6(ALAD):c.870G>A (p.Gln290=)
|
rs759917153
|
0.00005
|
NM_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000043.6(FAS):c.667A>C (p.Asn223His)
|
rs143318339
|
0.00005
|
NM_000130.5(F5):c.*1404G>A
|
rs950549168
|
0.00005
|
NM_000130.5(F5):c.*1433G>A
|
rs1324064139
|
0.00005
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
NM_000130.5(F5):c.6589A>G (p.Ile2197Val)
|
rs372005449
|
0.00005
|
NM_000140.5(FECH):c.*2060C>T
|
rs886053984
|
0.00005
|
NM_000140.5(FECH):c.*2600G>A
|
rs886053976
|
0.00005
|
NM_000140.5(FECH):c.*4449A>G
|
rs886053968
|
0.00005
|
NM_000140.5(FECH):c.*5247T>C
|
rs375220859
|
0.00005
|
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)
|
rs141724446
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)
|
rs373721483
|
0.00005
|
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)
|
rs759048538
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000190.4(HMBS):c.737G>A (p.Arg246His)
|
rs201909197
|
0.00005
|
NM_000208.4(INSR):c.*12G>A
|
rs375751275
|
0.00005
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
0.00005
|
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
|
rs376089631
|
0.00005
|
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)
|
rs144999773
|
0.00005
|
NM_000222.3(KIT):c.*701A>G
|
rs747912015
|
0.00005
|
NM_000222.3(KIT):c.146G>A (p.Arg49His)
|
rs376469897
|
0.00005
|
NM_000222.3(KIT):c.2056C>T (p.Arg686Cys)
|
rs148771698
|
0.00005
|
NM_000236.3(LIPC):c.674G>A (p.Arg225Gln)
|
rs575306493
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)
|
rs1064795039
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)
|
rs368594655
|
0.00005
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000294.3(PHKG2):c.556+5G>T
|
rs369684098
|
0.00005
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
NM_000352.6(ABCC8):c.1704G>A (p.Glu568=)
|
rs745652559
|
0.00005
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)
|
rs746146690
|
0.00005
|
NM_000352.6(ABCC8):c.4546-4G>A
|
rs770984647
|
0.00005
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)
|
rs374251542
|
0.00005
|
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)
|
rs145056464
|
0.00005
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu)
|
rs747942373
|
0.00005
|
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)
|
rs199766420
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
NM_000514.4(GDNF):c.*807G>A
|
rs886060601
|
0.00005
|
NM_000514.4(GDNF):c.-132G>C
|
rs891094114
|
0.00005
|
NM_000514.4(GDNF):c.-42G>T
|
rs1178630406
|
0.00005
|
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)
|
rs933392379
|
0.00005
|
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=)
|
rs200855007
|
0.00005
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser)
|
rs753972576
|
0.00005
|
NM_001040108.2(MLH3):c.*772T>A
|
rs182733472
|
0.00005
|
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His)
|
rs377022215
|
0.00005
|
NM_001040108.2(MLH3):c.3694C>T (p.Arg1232Cys)
|
rs550698696
|
0.00005
|
NM_001040108.2(MLH3):c.3980T>C (p.Ile1327Thr)
|
rs757266275
|
0.00005
|
NM_001040108.2(MLH3):c.638A>C (p.Gln213Pro)
|
rs370194355
|
0.00005
|
NM_001040108.2(MLH3):c.679A>C (p.Ser227Arg)
|
rs368947441
|
0.00005
|
NM_001041.4(SI):c.1420T>C (p.Tyr474His)
|
rs771986263
|
0.00005
|
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)
|
rs371618948
|
0.00005
|
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)
|
rs138778317
|
0.00005
|
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)
|
rs144419320
|
0.00005
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
NM_001041.4(SI):c.627T>C (p.Gly209=)
|
rs370540330
|
0.00005
|
NM_001042413.2(GLIS3):c.*1120C>T
|
rs922007897
|
0.00005
|
NM_001042413.2(GLIS3):c.*1942G>T
|
rs922915467
|
0.00005
|
NM_001042413.2(GLIS3):c.*2697T>G
|
rs374281554
|
0.00005
|
NM_001042413.2(GLIS3):c.*818C>T
|
rs886063949
|
0.00005
|
NM_001042413.2(GLIS3):c.1368A>T (p.Pro456=)
|
rs755087869
|
0.00005
|
NM_001080467.3(MYO5B):c.*2534C>T
|
rs111868213
|
0.00005
|
NM_001080467.3(MYO5B):c.*2537G>A
|
rs113647716
|
0.00005
|
NM_001080467.3(MYO5B):c.2004-6T>C
|
rs2969929
|
0.00005
|
NM_001080467.3(MYO5B):c.2090+15C>T
|
rs752349961
|
0.00005
|
NM_001080467.3(MYO5B):c.2832T>G (p.Leu944=)
|
rs199588107
|
0.00005
|
NM_001080467.3(MYO5B):c.744A>G (p.Arg248=)
|
rs368506553
|
0.00005
|
NM_001080467.3(MYO5B):c.807C>T (p.Ala269=)
|
rs370357903
|
0.00005
|
NM_001109809.5(ZFP57):c.277C>G (p.Leu93Val)
|
rs369213004
|
0.00005
|
NM_001166108.2(PALLD):c.*439T>C
|
rs972893704
|
0.00005
|
NM_001166108.2(PALLD):c.2645G>A (p.Arg882Gln)
|
rs780692056
|
0.00005
|
NM_001370466.1(NOD2):c.-8-2238G>C
|
rs976567823
|
0.00005
|
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His)
|
rs764176270
|
0.00005
|
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met)
|
rs528926956
|
0.00005
|
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala)
|
rs759153904
|
0.00005
|
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys)
|
rs545580252
|
0.00005
|
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His)
|
rs373185098
|
0.00005
|
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp)
|
rs62029861
|
0.00005
|
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)
|
rs375705174
|
0.00005
|
NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg)
|
rs867184583
|
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_001374385.1(ATP8B1):c.*1524T>C
|
rs886054000
|
0.00005
|
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr)
|
rs372806297
|
0.00005
|
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr)
|
rs146405857
|
0.00005
|
NM_001386140.1(MTTP):c.173G>A (p.Arg58His)
|
rs201464944
|
0.00005
|
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)
|
rs148696330
|
0.00005
|
NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr)
|
rs148441092
|
0.00005
|
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val)
|
rs200227183
|
0.00005
|
NM_001558.4(IL10RA):c.943G>A (p.Gly315Ser)
|
rs371381563
|
0.00005
|
NM_001626.6(AKT2):c.395C>T (p.Thr132Met)
|
rs143335817
|
0.00005
|
NM_001715.3(BLK):c.*376C>T
|
rs886062601
|
0.00005
|
NM_001868.4(CPA1):c.506G>A (p.Arg169His)
|
rs114365673
|
0.00005
|
NM_001868.4(CPA1):c.542G>A (p.Arg181Gln)
|
rs377042960
|
0.00005
|
NM_001868.4(CPA1):c.65+3del
|
rs574196558
|
0.00005
|
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met)
|
rs371155552
|
0.00005
|
NM_002335.4(LRP5):c.2827+5G>A
|
rs373365240
|
0.00005
|
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met)
|
rs371173423
|
0.00005
|
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu)
|
rs148725079
|
0.00005
|
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu)
|
rs200384949
|
0.00005
|
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)
|
rs587780763
|
0.00005
|
NM_002354.3(EPCAM):c.298G>A (p.Asp100Asn)
|
rs149274310
|
0.00005
|
NM_002354.3(EPCAM):c.450C>G (p.His150Gln)
|
rs864622724
|
0.00005
|
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)
|
rs373815046
|
0.00005
|
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His)
|
rs201754049
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg)
|
rs769459903
|
0.00005
|
NM_002769.5(PRSS1):c.447C>A (p.Ser149Arg)
|
rs372698855
|
0.00005
|
NM_002769.5(PRSS1):c.626A>G (p.Gln209Arg)
|
rs576596527
|
0.00005
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_003051.4(SLC16A1):c.*657C>A
|
rs911644501
|
0.00005
|
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr)
|
rs201481056
|
0.00005
|
NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser)
|
rs140933944
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)
|
rs752588055
|
0.00005
|
NM_003924.4(PHOX2B):c.*638G>C
|
rs544491872
|
0.00005
|
NM_004329.3(BMPR1A):c.*1349G>T
|
rs886047364
|
0.00005
|
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)
|
rs371904636
|
0.00005
|
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)
|
rs201481342
|
0.00005
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
NM_004360.5(CDH1):c.2363C>T (p.Ala788Val)
|
rs139096339
|
0.00005
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
NM_004655.4(AXIN2):c.2249C>T (p.Pro750Leu)
|
rs772888193
|
0.00005
|
NM_004963.4(GUCY2C):c.1967A>G (p.Asn656Ser)
|
rs1435086834
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005359.6(SMAD4):c.*1067G>A
|
rs542839921
|
0.00005
|
NM_005359.6(SMAD4):c.*218A>G
|
rs886053895
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)
|
rs759466443
|
0.00005
|
NM_006005.3(WFS1):c.1471G>A (p.Val491Met)
|
rs143597170
|
0.00005
|
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser)
|
rs753237278
|
0.00005
|
NM_006005.3(WFS1):c.1958G>A (p.Arg653His)
|
rs199697430
|
0.00005
|
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile)
|
rs377712049
|
0.00005
|
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)
|
rs376335216
|
0.00005
|
NM_006206.6(PDGFRA):c.*2079A>G
|
rs187487079
|
0.00005
|
NM_006206.6(PDGFRA):c.2366G>A (p.Gly789Asp)
|
rs555553917
|
0.00005
|
NM_006206.6(PDGFRA):c.3179T>A (p.Ile1060Asn)
|
rs774522904
|
0.00005
|
NM_006206.6(PDGFRA):c.322G>A (p.Glu108Lys)
|
rs878854829
|
0.00005
|
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)
|
rs201757026
|
0.00005
|
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)
|
rs539312991
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006941.4(SOX10):c.768G>A (p.Pro256=)
|
rs773109683
|
0.00005
|
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg)
|
rs200576965
|
0.00005
|
NM_007272.3(CTRC):c.641G>A (p.Gly214Glu)
|
rs1013133526
|
0.00005
|
NM_007315.4(STAT1):c.172C>T (p.His58Tyr)
|
rs751586208
|
0.00005
|
NM_014009.4(FOXP3):c.816+6C>T
|
rs781919619
|
0.00005
|
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile)
|
rs781510673
|
0.00005
|
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe)
|
rs200595563
|
0.00005
|
NM_017763.6(RNF43):c.686C>T (p.Pro229Leu)
|
rs763974538
|
0.00005
|
NM_017763.6(RNF43):c.79C>T (p.Arg27Cys)
|
rs138226300
|
0.00005
|
NM_018006.5(TRMU):c.873+11C>T
|
rs373365569
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)
|
rs372191563
|
0.00005
|
NM_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu)
|
rs767621140
|
0.00005
|
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys)
|
rs141878560
|
0.00005
|
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)
|
rs587778578
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
NM_053025.4(MYLK):c.2114G>A (p.Arg705His)
|
rs189505310
|
0.00005
|
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys)
|
rs373683421
|
0.00005
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)
|
rs201394862
|
0.00005
|
NM_080424.4(SP110):c.1379A>C (p.His460Pro)
|
rs772667418
|
0.00005
|
NM_080424.4(SP110):c.86A>T (p.Lys29Met)
|
rs756746930
|
0.00005
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)
|
rs150051278
|
0.00005
|
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)
|
rs756787389
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_182643.3(DLC1):c.857A>G (p.Asn286Ser)
|
rs374190119
|
0.00005
|
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
NM_000031.6(ALAD):c.*643G>T
|
rs182766085
|
0.00004
|
NM_000031.6(ALAD):c.-70G>T
|
rs774433320
|
0.00004
|
NM_000031.6(ALAD):c.241G>A (p.Val81Ile)
|
rs200963049
|
0.00004
|
NM_000031.6(ALAD):c.801+14C>T
|
rs369933664
|
0.00004
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000111.3(SLC26A3):c.741A>G (p.Leu247=)
|
rs188437289
|
0.00004
|
NM_000130.5(F5):c.*1857G>A
|
rs145683103
|
0.00004
|
NM_000130.5(F5):c.1624A>G (p.Ile542Val)
|
rs776949074
|
0.00004
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)
|
rs201142225
|
0.00004
|
NM_000140.5(FECH):c.*2599C>T
|
rs886053977
|
0.00004
|
NM_000140.5(FECH):c.*3656C>T
|
rs886053974
|
0.00004
|
NM_000140.5(FECH):c.*4528C>T
|
rs564734119
|
0.00004
|
NM_000140.5(FECH):c.*60T>C
|
rs886053996
|
0.00004
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
NM_000162.5(GCK):c.203G>A (p.Gly68Asp)
|
rs373418736
|
0.00004
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00004
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)
|
rs768042560
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)
|
rs769409620
|
0.00004
|
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser)
|
rs767103817
|
0.00004
|
NM_000190.4(HMBS):c.885G>A (p.Met295Ile)
|
rs749688624
|
0.00004
|
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)
|
rs746707121
|
0.00004
|
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln)
|
rs781674367
|
0.00004
|
NM_000208.4(INSR):c.*1001A>G
|
rs766637171
|
0.00004
|
NM_000208.4(INSR):c.*1045C>T
|
rs756351376
|
0.00004
|
NM_000208.4(INSR):c.*241G>A
|
rs369919269
|
0.00004
|
NM_000208.4(INSR):c.*2475A>G
|
rs1401575339
|
0.00004
|
NM_000208.4(INSR):c.-62C>T
|
rs532052290
|
0.00004
|
NM_000208.4(INSR):c.1084G>A (p.Val362Ile)
|
rs72549237
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)
|
rs149949294
|
0.00004
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)
|
rs372904306
|
0.00004
|
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)
|
rs760332763
|
0.00004
|
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)
|
rs373260040
|
0.00004
|
NM_000222.3(KIT):c.*1808A>G
|
rs762662037
|
0.00004
|
NM_000222.3(KIT):c.1555C>T (p.His519Tyr)
|
rs370364842
|
0.00004
|
NM_000222.3(KIT):c.1879C>T (p.Pro627Ser)
|
rs1032761406
|
0.00004
|
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)
|
rs768847037
|
0.00004
|
NM_000222.3(KIT):c.2231T>C (p.Ile744Thr)
|
rs549887751
|
0.00004
|
NM_000222.3(KIT):c.2293G>T (p.Asp765Tyr)
|
rs760112920
|
0.00004
|
NM_000222.3(KIT):c.2489G>A (p.Arg830Gln)
|
rs772311731
|
0.00004
|
NM_000222.3(KIT):c.2663G>A (p.Arg888Gln)
|
rs776681643
|
0.00004
|
NM_000222.3(KIT):c.2728G>T (p.Asp910Tyr)
|
rs190512512
|
0.00004
|
NM_000222.3(KIT):c.2802+9A>G
|
rs369450271
|
0.00004
|
NM_000222.3(KIT):c.349C>A (p.Leu117Ile)
|
rs189660852
|
0.00004
|
NM_000222.3(KIT):c.391G>A (p.Asp131Asn)
|
rs1044091916
|
0.00004
|
NM_000222.3(KIT):c.52C>T (p.Leu18Phe)
|
rs370787811
|
0.00004
|
NM_000222.3(KIT):c.839C>T (p.Ala280Val)
|
rs386833402
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.1227G>C (p.Gln409His)
|
rs775776362
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.237G>T (p.Arg79Ser)
|
rs752850761
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
NM_000251.1(MSH2):c.-225G>C
|
rs138068023
|
0.00004
|
NM_000251.2(MSH2):c.-76G>A
|
rs34355730
|
0.00004
|
NM_000251.3(MSH2):c.*32G>C
|
rs192502889
|
0.00004
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)
|
rs587779962
|
0.00004
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00004
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)
|
rs551236465
|
0.00004
|
NM_000251.3(MSH2):c.928C>G (p.Leu310Val)
|
rs750866402
|
0.00004
|
NM_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
|
rs1389980232
|
0.00004
|
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)
|
rs137958637
|
0.00004
|
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)
|
rs199904295
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
|
rs780391791
|
0.00004
|
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
|
rs373915359
|
0.00004
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00004
|
NM_000343.3(SLC5A1):c.-51G>A
|
rs199663392
|
0.00004
|
NM_000343.4(SLC5A1):c.*334G>A
|
rs199902294
|
0.00004
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr)
|
rs565272257
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
NM_000352.6(ABCC8):c.2117-12C>A
|
rs193922398
|
0.00004
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr)
|
rs751209734
|
0.00004
|
NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)
|
rs376413488
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)
|
rs768448830
|
0.00004
|
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)
|
rs775134825
|
0.00004
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)
|
rs374743072
|
0.00004
|
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)
|
rs369136858
|
0.00004
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
NM_000352.6(ABCC8):c.552C>T (p.Leu184=)
|
rs151211613
|
0.00004
|
NM_000352.6(ABCC8):c.604A>T (p.Arg202Trp)
|
rs751446018
|
0.00004
|
NM_000352.6(ABCC8):c.735C>T (p.Ile245=)
|
rs535141079
|
0.00004
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
NM_000374.5(UROD):c.578G>A (p.Arg193His)
|
rs143823335
|
0.00004
|
NM_000410.4(HFE):c.676C>T (p.Arg226Trp)
|
rs781516027
|
0.00004
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000514.4(GDNF):c.*717T>G
|
rs753516612
|
0.00004
|
NM_000525.4(KCNJ11):c.-6G>A
|
rs554874150
|
0.00004
|
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=)
|
rs193922564
|
0.00004
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
NM_000525.4(KCNJ11):c.912C>T (p.Tyr304=)
|
rs372471215
|
0.00004
|
NM_000535.6(PMS2):c.-46T>A
|
rs765248325
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.1239A>G (p.Lys413=)
|
rs1244752544
|
0.00004
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
0.00004
|
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)
|
rs749826312
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala)
|
rs376931673
|
0.00004
|
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg)
|
rs876660161
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00004
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)
|
rs921423540
|
0.00004
|
NM_000545.8(HNF1A):c.1624-15G>A
|
rs193922585
|
0.00004
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000572.3(IL10):c.371G>A (p.Arg124Gln)
|
rs201365412
|
0.00004
|
NM_000628.5(IL10RB):c.*515C>T
|
rs767017864
|
0.00004
|
NM_001040108.2(MLH3):c.-149G>C
|
rs886050783
|
0.00004
|
NM_001040108.2(MLH3):c.1082A>G (p.Asp361Gly)
|
rs749840648
|
0.00004
|
NM_001040108.2(MLH3):c.1388G>A (p.Ser463Asn)
|
rs144313410
|
0.00004
|
NM_001040108.2(MLH3):c.1724A>G (p.His575Arg)
|
rs141572255
|
0.00004
|
NM_001040108.2(MLH3):c.1827A>G (p.Ile609Met)
|
rs374951352
|
0.00004
|
NM_001040108.2(MLH3):c.1925T>C (p.Phe642Ser)
|
rs777245092
|
0.00004
|
NM_001040108.2(MLH3):c.2000G>C (p.Gly667Ala)
|
rs200093225
|
0.00004
|
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg)
|
rs148876417
|
0.00004
|
NM_001040108.2(MLH3):c.2126T>C (p.Ile709Thr)
|
rs750178172
|
0.00004
|
NM_001040108.2(MLH3):c.2336C>A (p.Thr779Asn)
|
rs757053892
|
0.00004
|
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=)
|
rs764724825
|
0.00004
|
NM_001040108.2(MLH3):c.2548C>G (p.Pro850Ala)
|
rs575583330
|
0.00004
|
NM_001040108.2(MLH3):c.2752G>T (p.Asp918Tyr)
|
rs762167939
|
0.00004
|
NM_001040108.2(MLH3):c.3053G>A (p.Gly1018Glu)
|
rs147325766
|
0.00004
|
NM_001040108.2(MLH3):c.3325C>T (p.Pro1109Ser)
|
rs140997957
|
0.00004
|
NM_001040108.2(MLH3):c.3356C>T (p.Thr1119Ile)
|
rs140127407
|
0.00004
|
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys)
|
rs113490514
|
0.00004
|
NM_001040108.2(MLH3):c.3565A>C (p.Met1189Leu)
|
rs557233869
|
0.00004
|
NM_001040108.2(MLH3):c.3688C>T (p.Arg1230Cys)
|
rs746431837
|
0.00004
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
NM_001040108.2(MLH3):c.449A>G (p.Asn150Ser)
|
rs141079562
|
0.00004
|
NM_001040108.2(MLH3):c.598C>T (p.Gln200Ter)
|
rs1039843487
|
0.00004
|
NM_001040108.2(MLH3):c.629G>A (p.Arg210Gln)
|
rs143631202
|
0.00004
|
NM_001040108.2(MLH3):c.884G>A (p.Arg295Gln)
|
rs774323111
|
0.00004
|
NM_001040108.2(MLH3):c.890G>A (p.Arg297Gln)
|
rs374212925
|
0.00004
|
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)
|
rs375458342
|
0.00004
|
NM_001041.4(SI):c.2891C>T (p.Thr964Met)
|
rs369115304
|
0.00004
|
NM_001041.4(SI):c.3760-7A>G
|
rs367956129
|
0.00004
|
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)
|
rs376972966
|
0.00004
|
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)
|
rs376437234
|
0.00004
|
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)
|
rs767701775
|
0.00004
|
NM_001041.4(SI):c.4692+12C>T
|
rs199581970
|
0.00004
|
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)
|
rs369134336
|
0.00004
|
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)
|
rs779803851
|
0.00004
|
NM_001041.4(SI):c.695G>A (p.Arg232His)
|
rs747345955
|
0.00004
|
NM_001042413.2(GLIS3):c.*2766G>C
|
rs145629157
|
0.00004
|
NM_001042413.2(GLIS3):c.*3611T>C
|
rs1362445118
|
0.00004
|
NM_001042413.2(GLIS3):c.1310C>T (p.Pro437Leu)
|
rs745511715
|
0.00004
|
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)
|
rs370278575
|
0.00004
|
NM_001042413.2(GLIS3):c.1842C>T (p.Arg614=)
|
rs758753292
|
0.00004
|
NM_001042413.2(GLIS3):c.2107C>T (p.Pro703Ser)
|
rs200705602
|
0.00004
|
NM_001042413.2(GLIS3):c.2568G>A (p.Ser856=)
|
rs773065162
|
0.00004
|
NM_001042413.2(GLIS3):c.31C>T (p.His11Tyr)
|
rs773069755
|
0.00004
|
NM_001042413.2(GLIS3):c.937G>A (p.Gly313Arg)
|
rs368943263
|
0.00004
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)
|
rs200229669
|
0.00004
|
NM_001080467.3(MYO5B):c.*1638C>T
|
rs886053861
|
0.00004
|
NM_001080467.3(MYO5B):c.-85G>T
|
rs1054535496
|
0.00004
|
NM_001080467.3(MYO5B):c.2572-5G>A
|
rs749018115
|
0.00004
|
NM_001080467.3(MYO5B):c.2881C>T (p.Arg961Trp)
|
rs556141097
|
0.00004
|
NM_001080467.3(MYO5B):c.2995C>T (p.Arg999Cys)
|
rs755870645
|
0.00004
|
NM_001080467.3(MYO5B):c.3196C>T (p.Arg1066Trp)
|
rs771709366
|
0.00004
|
NM_001080467.3(MYO5B):c.3460C>T (p.Arg1154Trp)
|
rs775981130
|
0.00004
|
NM_001080467.3(MYO5B):c.4513C>T (p.Leu1505Phe)
|
rs751931284
|
0.00004
|
NM_001080467.3(MYO5B):c.4834G>A (p.Val1612Met)
|
rs746297387
|
0.00004
|
NM_001109809.5(ZFP57):c.752G>A (p.Arg251His)
|
rs774050037
|
0.00004
|
NM_001122659.3(EDNRB):c.*2064T>G
|
rs200431243
|
0.00004
|
NM_001122659.3(EDNRB):c.*2309T>C
|
rs200621629
|
0.00004
|
NM_001122659.3(EDNRB):c.*2452G>A
|
rs200266252
|
0.00004
|
NM_001122659.3(EDNRB):c.*414G>A
|
rs750626886
|
0.00004
|
NM_001122659.3(EDNRB):c.318T>C (p.Val106=)
|
rs200777477
|
0.00004
|
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)
|
rs1050929
|
0.00004
|
NM_001122764.3(PPOX):c.-211C>A
|
rs140693401
|
0.00004
|
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)
|
rs772971420
|
0.00004
|
NM_001127511.3(APC):c.-167G>A
|
rs1278244063
|
0.00004
|
NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter)
|
rs200799739
|
0.00004
|
NM_001166108.2(PALLD):c.*2022A>G
|
rs886059216
|
0.00004
|
NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu)
|
rs201816881
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12673C>T
|
rs925242863
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12777C>T
|
rs864622140
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12795C>T
|
rs587780759
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12928G>A
|
rs587780753
|
0.00004
|
NM_001166108.2(PALLD):c.2072A>G (p.Lys691Arg)
|
rs144380526
|
0.00004
|
NM_001166108.2(PALLD):c.2092G>T (p.Gly698Cys)
|
rs143417961
|
0.00004
|
NM_001166108.2(PALLD):c.2356G>A (p.Val786Met)
|
rs587780197
|
0.00004
|
NM_001166108.2(PALLD):c.2719C>G (p.Pro907Ala)
|
rs141155457
|
0.00004
|
NM_001166108.2(PALLD):c.2894G>A (p.Gly965Glu)
|
rs760392120
|
0.00004
|
NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys)
|
rs151071844
|
0.00004
|
NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln)
|
rs376394488
|
0.00004
|
NM_001166108.2(PALLD):c.3269G>A (p.Gly1090Glu)
|
rs587780756
|
0.00004
|
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)
|
rs373256667
|
0.00004
|
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)
|
rs747886467
|
0.00004
|
NM_001289104.2(PRKCSH):c.*249C>T
|
rs963870626
|
0.00004
|
NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser)
|
rs866469235
|
0.00004
|
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His)
|
rs775259637
|
0.00004
|
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met)
|
rs149787198
|
0.00004
|
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu)
|
rs201385707
|
0.00004
|
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)
|
rs369459316
|
0.00004
|
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)
|
rs769622495
|
0.00004
|
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His)
|
rs199475913
|
0.00004
|
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His)
|
rs562225614
|
0.00004
|
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser)
|
rs760982375
|
0.00004
|
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)
|
rs375201229
|
0.00004
|
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)
|
rs775728252
|
0.00004
|
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met)
|
rs142077546
|
0.00004
|
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys)
|
rs374128251
|
0.00004
|
NM_001370466.1(NOD2):c.1819A>G (p.Arg607Gly)
|
rs970949991
|
0.00004
|
NM_001370466.1(NOD2):c.1918G>A (p.Glu640Lys)
|
rs774425599
|
0.00004
|
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu)
|
rs374116563
|
0.00004
|
NM_001370466.1(NOD2):c.1A>G (p.Met1Val)
|
rs372321755
|
0.00004
|
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln)
|
rs139104022
|
0.00004
|
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met)
|
rs746055479
|
0.00004
|
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp)
|
rs376201089
|
0.00004
|
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His)
|
rs763955590
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter)
|
rs760623178
|
0.00004
|
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)
|
rs770915641
|
0.00004
|
NM_001370466.1(NOD2):c.2465+6T>A
|
rs201329309
|
0.00004
|
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser)
|
rs374506720
|
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.2917G>A (p.Ala973Thr)
|
rs1282634444
|
0.00004
|
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)
|
rs749605438
|
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_001370466.1(NOD2):c.631A>G (p.Ser211Gly)
|
rs1001861018
|
0.00004
|
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)
|
rs148516118
|
0.00004
|
NM_001370466.1(NOD2):c.769A>G (p.Thr257Ala)
|
rs369740939
|
0.00004
|
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val)
|
rs104895426
|
0.00004
|
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln)
|
rs759520552
|
0.00004
|
NM_001374385.1(ATP8B1):c.*776G>A
|
rs886054003
|
0.00004
|
NM_001374385.1(ATP8B1):c.*799G>A
|
rs376678355
|
0.00004
|
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=)
|
rs35969033
|
0.00004
|
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)
|
rs755385749
|
0.00004
|
NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys)
|
rs960179853
|
0.00004
|
NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln)
|
rs768114205
|
0.00004
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)
|
rs201150730
|
0.00004
|
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)
|
rs148715351
|
0.00004
|
NM_001374385.1(ATP8B1):c.3401-13A>G
|
rs747437391
|
0.00004
|
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met)
|
rs369011228
|
0.00004
|
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser)
|
rs952023183
|
0.00004
|
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met)
|
rs370266754
|
0.00004
|
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)
|
rs760077990
|
0.00004
|
NM_001386140.1(MTTP):c.*826T>C
|
rs960548926
|
0.00004
|
NM_001386140.1(MTTP):c.*98T>A
|
rs886058961
|
0.00004
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386140.1(MTTP):c.163G>A (p.Val55Met)
|
rs369453726
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=)
|
rs761984561
|
0.00004
|
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)
|
rs764357849
|
0.00004
|
NM_001386140.1(MTTP):c.501+8C>T
|
rs773537875
|
0.00004
|
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)
|
rs759200881
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
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.1693C>A (p.Leu565Met)
|
rs375201461
|
0.00004
|
NM_001558.4(IL10RA):c.17T>C (p.Val6Ala)
|
rs768177135
|
0.00004
|
NM_001558.4(IL10RA):c.457G>A (p.Ala153Thr)
|
rs144476761
|
0.00004
|
NM_001558.4(IL10RA):c.536C>T (p.Thr179Met)
|
rs564148493
|
0.00004
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
NM_001626.6(AKT2):c.19A>G (p.Ile7Val)
|
rs199748431
|
0.00004
|
NM_001715.3(BLK):c.-201G>A
|
rs1468476015
|
0.00004
|
NM_001715.3(BLK):c.-47C>T
|
rs150444590
|
0.00004
|
NM_001715.3(BLK):c.153G>A (p.Pro51=)
|
rs746710451
|
0.00004
|
NM_001715.3(BLK):c.639C>T (p.Cys213=)
|
rs779263158
|
0.00004
|
NM_001715.3(BLK):c.810G>A (p.Thr270=)
|
rs749767699
|
0.00004
|
NM_001789.3(CDC25A):c.1046C>T (p.Thr349Ile)
|
rs201430835
|
0.00004
|
NM_001868.4(CPA1):c.1156C>T (p.Arg386Cys)
|
rs201750163
|
0.00004
|
NM_001868.4(CPA1):c.137A>T (p.Glu46Val)
|
rs201893877
|
0.00004
|
NM_001868.4(CPA1):c.218A>G (p.Gln73Arg)
|
rs781892742
|
0.00004
|
NM_001868.4(CPA1):c.358G>A (p.Ala120Thr)
|
rs782250540
|
0.00004
|
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met)
|
rs199686378
|
0.00004
|
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys)
|
rs377144001
|
0.00004
|
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met)
|
rs575865236
|
0.00004
|
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln)
|
rs565245995
|
0.00004
|
NM_002335.4(LRP5):c.249C>T (p.Ser83=)
|
rs375802434
|
0.00004
|
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile)
|
rs974320602
|
0.00004
|
NM_002335.4(LRP5):c.2518G>A (p.Val840Met)
|
rs757262154
|
0.00004
|
NM_002335.4(LRP5):c.284C>T (p.Thr95Met)
|
rs777743208
|
0.00004
|
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys)
|
rs201285828
|
0.00004
|
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys)
|
rs767690779
|
0.00004
|
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val)
|
rs772148405
|
0.00004
|
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu)
|
rs369637767
|
0.00004
|
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His)
|
rs765378705
|
0.00004
|
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu)
|
rs528693139
|
0.00004
|
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu)
|
rs778004788
|
0.00004
|
NM_002336.3(LRP6):c.4376C>G (p.Pro1459Arg)
|
rs376248000
|
0.00004
|
NM_002336.3(LRP6):c.615C>A (p.Phe205Leu)
|
rs148780507
|
0.00004
|
NM_002354.3(EPCAM):c.-79C>T
|
rs886056131
|
0.00004
|
NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser)
|
rs587780764
|
0.00004
|
NM_002354.3(EPCAM):c.533C>T (p.Pro178Leu)
|
rs772471530
|
0.00004
|
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)
|
rs906679954
|
0.00004
|
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val)
|
rs371205331
|
0.00004
|
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp)
|
rs142227497
|
0.00004
|
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)
|
rs370240337
|
0.00004
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
|
rs149964928
|
0.00004
|
NM_002500.5(NEUROD1):c.*718C>T
|
rs886055320
|
0.00004
|
NM_002500.5(NEUROD1):c.-81C>T
|
rs567688779
|
0.00004
|
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln)
|
rs201542440
|
0.00004
|
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys)
|
rs780520468
|
0.00004
|
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser)
|
rs375390710
|
0.00004
|
NM_002711.4(PPP1R3A):c.2821A>G (p.Met941Val)
|
rs772082412
|
0.00004
|
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg)
|
rs372411481
|
0.00004
|
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr)
|
rs752456117
|
0.00004
|
NM_002769.5(PRSS1):c.548T>C (p.Met183Thr)
|
rs762123204
|
0.00004
|
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys)
|
rs140591237
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
NM_003051.3(SLC16A1):c.-218G>A
|
rs761334745
|
0.00004
|
NM_003051.4(SLC16A1):c.*77C>T
|
rs868304120
|
0.00004
|
NM_003177.7(SYK):c.1057G>A (p.Ala353Thr)
|
rs200167353
|
0.00004
|
NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys)
|
rs764909573
|
0.00004
|
NM_003183.6(ADAM17):c.1345-3A>G
|
rs377134738
|
0.00004
|
NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn)
|
rs200446953
|
0.00004
|
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu)
|
rs765820179
|
0.00004
|
NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly)
|
rs750249923
|
0.00004
|
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile)
|
rs142946965
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_003597.5(KLF11):c.*1990T>C
|
rs911685125
|
0.00004
|
NM_003597.5(KLF11):c.1259-2_1259-1del
|
rs770555623
|
0.00004
|
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)
|
rs370039403
|
0.00004
|
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp)
|
rs951486880
|
0.00004
|
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)
|
rs553076953
|
0.00004
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
NM_003924.3(PHOX2B):c.-195G>A
|
rs775569375
|
0.00004
|
NM_003924.4(PHOX2B):c.*1582T>C
|
rs921963841
|
0.00004
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
NM_003924.4(PHOX2B):c.766G>A (p.Ala256Thr)
|
rs761010146
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)
|
rs368595543
|
0.00004
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)
|
rs375165807
|
0.00004
|
NM_004329.3(BMPR1A):c.563G>A (p.Arg188His)
|
rs749780872
|
0.00004
|
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys)
|
rs771910503
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)
|
rs923739321
|
0.00004
|
NM_004360.4(CDH1):c.-288del
|
rs5030658
|
0.00004
|
NM_004360.5(CDH1):c.*1049A>C
|
rs886052244
|
0.00004
|
NM_004360.5(CDH1):c.*1285T>C
|
rs369689471
|
0.00004
|
NM_004360.5(CDH1):c.*193G>C
|
rs886052238
|
0.00004
|
NM_004360.5(CDH1):c.-41C>A
|
rs730881658
|
0.00004
|
NM_004360.5(CDH1):c.-44G>A
|
rs886041159
|
0.00004
|
NM_004360.5(CDH1):c.-63C>A
|
rs572272864
|
0.00004
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
NM_004360.5(CDH1):c.1687G>T (p.Ala563Ser)
|
rs587782044
|
0.00004
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
NM_004360.5(CDH1):c.2249A>G (p.Asp750Gly)
|
rs759608783
|
0.00004
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
NM_004360.5(CDH1):c.2348C>T (p.Thr783Ile)
|
rs876658467
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2427T>A (p.Asn809Lys)
|
rs772173832
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
NM_004360.5(CDH1):c.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
NM_004655.4(AXIN2):c.1058C>T (p.Pro353Leu)
|
rs771677461
|
0.00004
|
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys)
|
rs749846538
|
0.00004
|
NM_004655.4(AXIN2):c.1411C>T (p.His471Tyr)
|
rs544255284
|
0.00004
|
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys)
|
rs368289818
|
0.00004
|
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser)
|
rs547630327
|
0.00004
|
NM_004655.4(AXIN2):c.544A>G (p.Met182Val)
|
rs976524379
|
0.00004
|
NM_004655.4(AXIN2):c.955G>A (p.Val319Ile)
|
rs913060347
|
0.00004
|
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)
|
rs746223152
|
0.00004
|
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)
|
rs142684074
|
0.00004
|
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)
|
rs184522376
|
0.00004
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_005359.6(SMAD4):c.*1386G>T
|
rs553408737
|
0.00004
|
NM_005359.6(SMAD4):c.*170A>G
|
rs1179236471
|
0.00004
|
NM_005359.6(SMAD4):c.*259T>C
|
rs1178398899
|
0.00004
|
NM_005359.6(SMAD4):c.*3223A>G
|
rs1202921300
|
0.00004
|
NM_005359.6(SMAD4):c.*837A>G
|
rs886053897
|
0.00004
|
NM_005359.6(SMAD4):c.-333C>A
|
rs886053888
|
0.00004
|
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)
|
rs756795016
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)
|
rs373146435
|
0.00004
|
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)
|
rs151244358
|
0.00004
|
NM_006005.3(WFS1):c.1220A>G (p.His407Arg)
|
rs140407862
|
0.00004
|
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr)
|
rs773280611
|
0.00004
|
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr)
|
rs71524357
|
0.00004
|
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser)
|
rs760692398
|
0.00004
|
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile)
|
rs148544389
|
0.00004
|
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)
|
rs765322804
|
0.00004
|
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)
|
rs369656458
|
0.00004
|
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)
|
rs757027394
|
0.00004
|
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)
|
rs138165486
|
0.00004
|
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu)
|
rs547089139
|
0.00004
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser)
|
rs770713329
|
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_006206.6(PDGFRA):c.1274A>G (p.His425Arg)
|
rs769631321
|
0.00004
|
NM_006206.6(PDGFRA):c.1347A>G (p.Ile449Met)
|
rs775373016
|
0.00004
|
NM_006206.6(PDGFRA):c.1364+6G>T
|
rs368934617
|
0.00004
|
NM_006206.6(PDGFRA):c.1415T>G (p.Ile472Ser)
|
rs201223501
|
0.00004
|
NM_006206.6(PDGFRA):c.1436G>A (p.Arg479Gln)
|
rs777341485
|
0.00004
|
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met)
|
rs149031291
|
0.00004
|
NM_006206.6(PDGFRA):c.1460G>A (p.Arg487His)
|
rs764214258
|
0.00004
|
NM_006206.6(PDGFRA):c.1492G>A (p.Ala498Thr)
|
rs758137485
|
0.00004
|
NM_006206.6(PDGFRA):c.1522G>A (p.Gly508Arg)
|
rs770129304
|
0.00004
|
NM_006206.6(PDGFRA):c.1615A>G (p.Ile539Val)
|
rs866516451
|
0.00004
|
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)
|
rs969139366
|
0.00004
|
NM_006206.6(PDGFRA):c.2368C>T (p.Leu790Phe)
|
rs771661933
|
0.00004
|
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile)
|
rs370600501
|
0.00004
|
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)
|
rs200042995
|
0.00004
|
NM_006206.6(PDGFRA):c.3211G>A (p.Asp1071Asn)
|
rs376544204
|
0.00004
|
NM_006206.6(PDGFRA):c.49+5G>A
|
rs369607686
|
0.00004
|
NM_006206.6(PDGFRA):c.784G>C (p.Glu262Gln)
|
rs376265745
|
0.00004
|
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)
|
rs150927351
|
0.00004
|
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala)
|
rs754251347
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)
|
rs150545516
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
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_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_007214.5(SEC63):c.*3210C>T
|
rs570848637
|
0.00004
|
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe)
|
rs769324644
|
0.00004
|
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys)
|
rs144286923
|
0.00004
|
NM_007272.3(CTRC):c.356G>A (p.Arg119His)
|
rs748221308
|
0.00004
|
NM_007272.3(CTRC):c.493+3G>A
|
rs772436044
|
0.00004
|
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys)
|
rs772573958
|
0.00004
|
NM_007272.3(CTRC):c.81C>T (p.Ser27=)
|
rs749455108
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln)
|
rs369060692
|
0.00004
|
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu)
|
rs780853224
|
0.00004
|
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys)
|
rs533671897
|
0.00004
|
NM_012079.6(DGAT1):c.1187G>A (p.Arg396Gln)
|
rs193169779
|
0.00004
|
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln)
|
rs1170772176
|
0.00004
|
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp)
|
rs376715533
|
0.00004
|
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr)
|
rs1424687079
|
0.00004
|
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln)
|
rs782731811
|
0.00004
|
NM_015077.4(SARM1):c.*3019G>A
|
rs1207587504
|
0.00004
|
NM_015077.4(SARM1):c.*3073G>A
|
rs1386304942
|
0.00004
|
NM_015634.4(KIFBP):c.*133G>C
|
rs149549024
|
0.00004
|
NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr)
|
rs764557349
|
0.00004
|
NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr)
|
rs374731910
|
0.00004
|
NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala)
|
rs768592975
|
0.00004
|
NM_015634.4(KIFBP):c.781A>G (p.Ile261Val)
|
rs749110699
|
0.00004
|
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)
|
rs771591530
|
0.00004
|
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser)
|
rs771499861
|
0.00004
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys)
|
rs763467593
|
0.00004
|
NM_017763.6(RNF43):c.2090A>G (p.His697Arg)
|
rs562828978
|
0.00004
|
NM_017763.6(RNF43):c.443C>G (p.Ala148Gly)
|
rs142178517
|
0.00004
|
NM_018006.4(TRMU):c.-190A>T
|
rs538113553
|
0.00004
|
NM_018006.5(TRMU):c.*28G>A
|
rs776214918
|
0.00004
|
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)
|
rs202047181
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_018006.5(TRMU):c.705+4C>T
|
rs372122484
|
0.00004
|
NM_018006.5(TRMU):c.773-4G>A
|
rs368787983
|
0.00004
|
NM_018006.5(TRMU):c.834C>T (p.Tyr278=)
|
rs772935887
|
0.00004
|
NM_018006.5(TRMU):c.873+12G>A
|
rs540183174
|
0.00004
|
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
|
rs750459659
|
0.00004
|
NM_020975.6(RET):c.*1659T>C
|
rs886047012
|
0.00004
|
NM_020975.6(RET):c.*1900C>A
|
rs956882000
|
0.00004
|
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)
|
rs763670106
|
0.00004
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)
|
rs748799148
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_020975.6(RET):c.2498G>A (p.Arg833His)
|
rs587782636
|
0.00004
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)
|
rs758800351
|
0.00004
|
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)
|
rs757373375
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.603C>T (p.Ser201=)
|
rs780120451
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)
|
rs559896573
|
0.00004
|
NM_024079.5(ALG8):c.337A>G (p.Met113Val)
|
rs140499974
|
0.00004
|
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)
|
rs758154434
|
0.00004
|
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val)
|
rs145079718
|
0.00004
|
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys)
|
rs1450649026
|
0.00004
|
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)
|
rs144085962
|
0.00004
|
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)
|
rs779769077
|
0.00004
|
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln)
|
rs201446896
|
0.00004
|
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp)
|
rs372538600
|
0.00004
|
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)
|
rs148759277
|
0.00004
|
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His)
|
rs201993620
|
0.00004
|
NM_024408.4(NOTCH2):c.875-9C>G
|
rs1324363153
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr)
|
rs746140741
|
0.00004
|
NM_025225.3(PNPLA3):c.917G>A (p.Arg306His)
|
rs372749129
|
0.00004
|
NM_032830.3(UTP4):c.*67A>C
|
rs1015958388
|
0.00004
|
NM_053025.4(MYLK):c.*165del
|
rs886057856
|
0.00004
|
NM_053025.4(MYLK):c.*334C>T
|
rs565933037
|
0.00004
|
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg)
|
rs377193216
|
0.00004
|
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser)
|
rs147311651
|
0.00004
|
NM_053025.4(MYLK):c.2403C>T (p.Gly801=)
|
rs752536081
|
0.00004
|
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln)
|
rs371418382
|
0.00004
|
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys)
|
rs749847711
|
0.00004
|
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)
|
rs368229473
|
0.00004
|
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu)
|
rs762030142
|
0.00004
|
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu)
|
rs530737723
|
0.00004
|
NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met)
|
rs202025561
|
0.00004
|
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala)
|
rs752526557
|
0.00004
|
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)
|
rs1361739212
|
0.00004
|
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg)
|
rs771169789
|
0.00004
|
NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)
|
rs777078204
|
0.00004
|
NM_080424.4(SP110):c.1531G>A (p.Ala511Thr)
|
rs745817983
|
0.00004
|
NM_080424.4(SP110):c.1757A>G (p.Gln586Arg)
|
rs757053890
|
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_080424.4(SP110):c.23T>C (p.Met8Thr)
|
rs200067258
|
0.00004
|
NM_080424.4(SP110):c.929A>C (p.Lys310Thr)
|
rs200591551
|
0.00004
|
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu)
|
rs369959215
|
0.00004
|
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala)
|
rs369191223
|
0.00004
|
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)
|
rs781838735
|
0.00004
|
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu)
|
rs886061620
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)
|
rs1194767470
|
0.00004
|
NM_144997.7(FLCN):c.716G>A (p.Arg239His)
|
rs753948488
|
0.00004
|
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)
|
rs749758787
|
0.00004
|
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)
|
rs55860727
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_175914.5(HNF4A):c.*1828G>A
|
rs759101859
|
0.00004
|
NM_175914.5(HNF4A):c.*1C>A
|
rs201330472
|
0.00004
|
NM_175914.5(HNF4A):c.*2297C>A
|
rs1341485123
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.50-4700G>A
|
rs568730599
|
0.00004
|
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)
|
rs773661614
|
0.00004
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg)
|
rs962887931
|
0.00004
|
NM_207034.3(EDN3):c.*585C>T
|
rs886056883
|
0.00004
|
NM_207034.3(EDN3):c.*606A>C
|
rs1421722806
|
0.00004
|
NM_207034.3(EDN3):c.*708C>T
|
rs746433345
|
0.00004
|
NM_207034.3(EDN3):c.651C>T (p.Pro217=)
|
rs748005608
|
0.00004
|
NM_000031.6(ALAD):c.*381G>A
|
rs886063363
|
0.00003
|
NM_000031.6(ALAD):c.-76+15G>T
|
rs756965057
|
0.00003
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)
|
rs730881239
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)
|
rs587779807
|
0.00003
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
NM_000097.7(CPOX):c.1173G>T (p.Arg391=)
|
rs374136925
|
0.00003
|
NM_000111.3(SLC26A3):c.1388G>A (p.Arg463Gln)
|
rs751483686
|
0.00003
|
NM_000111.3(SLC26A3):c.455G>A (p.Arg152His)
|
rs763721296
|
0.00003
|
NM_000115.5(EDNRB):c.-52G>A
|
rs1024731982
|
0.00003
|
NM_000130.5(F5):c.*1132A>G
|
rs185213313
|
0.00003
|
NM_000130.5(F5):c.*1257A>C
|
rs527497923
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
NM_000130.5(F5):c.886G>A (p.Ala296Thr)
|
rs748350385
|
0.00003
|
NM_000140.5(FECH):c.*2513G>A
|
rs886053978
|
0.00003
|
NM_000140.5(FECH):c.*3719C>T
|
rs886053973
|
0.00003
|
NM_000140.5(FECH):c.*3788A>G
|
rs886053971
|
0.00003
|
NM_000140.5(FECH):c.*4336A>G
|
rs769571284
|
0.00003
|
NM_000140.5(FECH):c.*4337G>A
|
rs747976113
|
0.00003
|
NM_000140.5(FECH):c.*4363G>A
|
rs375097125
|
0.00003
|
NM_000140.5(FECH):c.202A>G (p.Lys68Glu)
|
rs756377185
|
0.00003
|
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr)
|
rs748322657
|
0.00003
|
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)
|
rs747171741
|
0.00003
|
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)
|
rs745848425
|
0.00003
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
NM_000162.5(GCK):c.-5T>C
|
rs193922251
|
0.00003
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1025C>G (p.Ala342Gly)
|
rs753617680
|
0.00003
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
NM_000179.3(MSH6):c.115G>A (p.Gly39Arg)
|
rs751838296
|
0.00003
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile)
|
rs587781657
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)
|
rs373418713
|
0.00003
|
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)
|
rs537604099
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.2584C>G (p.Leu862Val)
|
rs1187393388
|
0.00003
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)
|
rs587779930
|
0.00003
|
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)
|
rs372103816
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
NM_000179.3(MSH6):c.362G>A (p.Arg121His)
|
rs769279475
|
0.00003
|
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)
|
rs876661084
|
0.00003
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)
|
rs267608129
|
0.00003
|
NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg)
|
rs876658189
|
0.00003
|
NM_000179.3(MSH6):c.3978G>A (p.Met1326Ile)
|
rs141464646
|
0.00003
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
NM_000179.3(MSH6):c.627G>A (p.Glu209=)
|
rs769312569
|
0.00003
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys)
|
rs761810461
|
0.00003
|
NM_000207.3(INS):c.130G>A (p.Gly44Arg)
|
rs765512575
|
0.00003
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
NM_000208.4(INSR):c.*1591C>T
|
rs545450279
|
0.00003
|
NM_000208.4(INSR):c.*3693G>A
|
rs886054662
|
0.00003
|
NM_000208.4(INSR):c.*4379C>T
|
rs886054659
|
0.00003
|
NM_000208.4(INSR):c.*4380G>A
|
rs1016440018
|
0.00003
|
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp)
|
rs886054686
|
0.00003
|
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln)
|
rs753624268
|
0.00003
|
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)
|
rs753881947
|
0.00003
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)
|
rs769242977
|
0.00003
|
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)
|
rs755047447
|
0.00003
|
NM_000222.3(KIT):c.1207A>G (p.Ile403Val)
|
rs878853759
|
0.00003
|
NM_000222.3(KIT):c.182C>T (p.Pro61Leu)
|
rs557317141
|
0.00003
|
NM_000222.3(KIT):c.2043T>G (p.Phe681Leu)
|
rs878853763
|
0.00003
|
NM_000222.3(KIT):c.2086G>A (p.Asp696Asn)
|
rs781588289
|
0.00003
|
NM_000222.3(KIT):c.221C>T (p.Thr74Met)
|
rs147943899
|
0.00003
|
NM_000222.3(KIT):c.2248A>G (p.Arg750Gly)
|
rs541362004
|
0.00003
|
NM_000222.3(KIT):c.2540C>T (p.Thr847Met)
|
rs752695117
|
0.00003
|
NM_000222.3(KIT):c.2626G>A (p.Asp876Asn)
|
rs372795544
|
0.00003
|
NM_000222.3(KIT):c.2771T>C (p.Ile924Thr)
|
rs1000138811
|
0.00003
|
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)
|
rs773828910
|
0.00003
|
NM_000222.3(KIT):c.463C>T (p.Pro155Ser)
|
rs777031731
|
0.00003
|
NM_000222.3(KIT):c.473A>T (p.Lys158Met)
|
rs775817289
|
0.00003
|
NM_000222.3(KIT):c.734C>T (p.Thr245Met)
|
rs755508624
|
0.00003
|
NM_000222.3(KIT):c.842G>A (p.Arg281Lys)
|
rs147367441
|
0.00003
|
NM_000222.3(KIT):c.944T>A (p.Ile315Asn)
|
rs377590954
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)
|
rs1437454428
|
0.00003
|
NM_000249.4(MLH1):c.1067C>T (p.Ser356Phe)
|
rs749334262
|
0.00003
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
NM_000249.4(MLH1):c.1268G>C (p.Arg423Thr)
|
rs370687064
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.1562T>A (p.Leu521His)
|
rs1258738224
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00003
|
NM_000249.4(MLH1):c.371G>A (p.Cys124Tyr)
|
rs730881736
|
0.00003
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
NM_000249.4(MLH1):c.409G>A (p.Ala137Thr)
|
rs756888142
|
0.00003
|
NM_000249.4(MLH1):c.453+14A>G
|
rs372525243
|
0.00003
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
NM_000249.4(MLH1):c.587A>C (p.Lys196Thr)
|
rs876659860
|
0.00003
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
|
rs749671520
|
0.00003
|
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly)
|
rs730882127
|
0.00003
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
NM_000251.3(MSH2):c.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1511G>T (p.Gly504Val)
|
rs1191742655
|
0.00003
|
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)
|
rs755931648
|
0.00003
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
NM_000251.3(MSH2):c.763A>C (p.Ser255Arg)
|
rs761529282
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00003
|
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)
|
rs756254299
|
0.00003
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
NM_000294.3(PHKG2):c.*47G>A
|
rs767591090
|
0.00003
|
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
|
rs564686049
|
0.00003
|
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val)
|
rs770253840
|
0.00003
|
NM_000294.3(PHKG2):c.911C>A (p.Pro304His)
|
rs781099286
|
0.00003
|
NM_000343.4(SLC5A1):c.*1842C>T
|
rs1039766018
|
0.00003
|
NM_000343.4(SLC5A1):c.*451A>G
|
rs200434456
|
0.00003
|
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
|
rs751571109
|
0.00003
|
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)
|
rs142249046
|
0.00003
|
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)
|
rs767572551
|
0.00003
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn)
|
rs577545383
|
0.00003
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.1923+10C>T
|
rs775087598
|
0.00003
|
NM_000352.6(ABCC8):c.2163G>C (p.Ser721=)
|
rs201724038
|
0.00003
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
|
rs148342166
|
0.00003
|
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)
|
rs765913448
|
0.00003
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)
|
rs149331388
|
0.00003
|
NM_000352.6(ABCC8):c.413-15A>G
|
rs758744263
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
|
rs369810811
|
0.00003
|
NM_000352.6(ABCC8):c.4608+10C>T
|
rs754304889
|
0.00003
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)
|
rs757018137
|
0.00003
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)
|
rs747610107
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000458.4(HNF1B):c.100C>T (p.Leu34=)
|
rs373201245
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000458.4(HNF1B):c.9C>T (p.Ser3=)
|
rs773256244
|
0.00003
|
NM_000463.3(UGT1A1):c.*461G>T
|
rs142810023
|
0.00003
|
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)
|
rs55750087
|
0.00003
|
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys)
|
rs778766461
|
0.00003
|
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala)
|
rs140365717
|
0.00003
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000525.4(KCNJ11):c.*311C>T
|
rs886048038
|
0.00003
|
NM_000525.4(KCNJ11):c.*849C>G
|
rs1272490539
|
0.00003
|
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)
|
rs114215135
|
0.00003
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00003
|
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)
|
rs1233061680
|
0.00003
|
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)
|
rs770609243
|
0.00003
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
NM_000525.4(KCNJ11):c.579C>T (p.His193=)
|
rs762089425
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)
|
rs139445409
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.120G>C (p.Lys40Asn)
|
rs1060504843
|
0.00003
|
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys)
|
rs748698776
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)
|
rs138222146
|
0.00003
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln)
|
rs63751230
|
0.00003
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
0.00003
|
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)
|
rs748927376
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2167C>T (p.Leu723Phe)
|
rs1456057054
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr)
|
rs1064796041
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.408G>A (p.Met136Ile)
|
rs1064794077
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser)
|
rs375553553
|
0.00003
|
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys)
|
rs141577476
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000545.8(HNF1A):c.-6C>T
|
rs779387337
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
NM_000545.8(HNF1A):c.30G>A (p.Thr10=)
|
rs746020457
|
0.00003
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000572.3(IL10):c.314T>G (p.Ile105Ser)
|
rs372883095
|
0.00003
|
NM_000572.3(IL10):c.374G>A (p.Arg125His)
|
rs374619208
|
0.00003
|
NM_000574.5(CD55):c.1081+1G>C
|
rs746324299
|
0.00003
|
NM_000628.5(IL10RB):c.*365C>T
|
rs886057005
|
0.00003
|
NM_000628.5(IL10RB):c.*546G>A
|
rs886057006
|
0.00003
|
NM_000628.5(IL10RB):c.742G>A (p.Val248Ile)
|
rs777216483
|
0.00003
|
NM_000628.5(IL10RB):c.795C>A (p.His265Gln)
|
rs373204116
|
0.00003
|
NM_000628.5(IL10RB):c.911G>A (p.Ser304Asn)
|
rs762692366
|
0.00003
|
NM_001040108.2(MLH3):c.*1990T>A
|
rs886050769
|
0.00003
|
NM_001040108.2(MLH3):c.*2679A>G
|
rs1018604766
|
0.00003
|
NM_001040108.2(MLH3):c.*3105C>G
|
rs543449865
|
0.00003
|
NM_001040108.2(MLH3):c.1156G>A (p.Glu386Lys)
|
rs142081869
|
0.00003
|
NM_001040108.2(MLH3):c.1585A>C (p.Lys529Gln)
|
rs1004546185
|
0.00003
|
NM_001040108.2(MLH3):c.1619A>G (p.Asn540Ser)
|
rs768855148
|
0.00003
|
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)
|
rs61755653
|
0.00003
|
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His)
|
rs186838169
|
0.00003
|
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser)
|
rs377337763
|
0.00003
|
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys)
|
rs143865811
|
0.00003
|
NM_001040108.2(MLH3):c.3136C>T (p.Arg1046Trp)
|
rs765313787
|
0.00003
|
NM_001040108.2(MLH3):c.3235A>G (p.Thr1079Ala)
|
rs200350079
|
0.00003
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
NM_001040108.2(MLH3):c.3676G>A (p.Ala1226Thr)
|
rs747817741
|
0.00003
|
NM_001040108.2(MLH3):c.405del (p.Asp136fs)
|
rs1892496921
|
0.00003
|
NM_001040108.2(MLH3):c.4097T>C (p.Ile1366Thr)
|
rs61752724
|
0.00003
|
NM_001040108.2(MLH3):c.4186G>T (p.Gly1396Trp)
|
rs368876363
|
0.00003
|
NM_001040108.2(MLH3):c.443T>C (p.Val148Ala)
|
rs1484161045
|
0.00003
|
NM_001040108.2(MLH3):c.806A>G (p.Asp269Gly)
|
rs761744465
|
0.00003
|
NM_001040108.2(MLH3):c.958T>G (p.Cys320Gly)
|
rs1334932761
|
0.00003
|
NM_001041.4(SI):c.1-15C>A
|
rs201424057
|
0.00003
|
NM_001041.4(SI):c.1715+8C>A
|
rs373673328
|
0.00003
|
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)
|
rs201583834
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
NM_001041.4(SI):c.2966G>A (p.Arg989His)
|
rs757155810
|
0.00003
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00003
|
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)
|
rs768100667
|
0.00003
|
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
|
rs202077921
|
0.00003
|
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)
|
rs779805310
|
0.00003
|
NM_001041.4(SI):c.4062+11C>T
|
rs747768310
|
0.00003
|
NM_001041.4(SI):c.417T>G (p.Phe139Leu)
|
rs758407768
|
0.00003
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
NM_001041.4(SI):c.453A>G (p.Gln151=)
|
rs374104171
|
0.00003
|
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)
|
rs535971512
|
0.00003
|
NM_001041.4(SI):c.780T>G (p.Ile260Met)
|
rs758621325
|
0.00003
|
NM_001042413.2(GLIS3):c.*1002T>C
|
rs574929091
|
0.00003
|
NM_001042413.2(GLIS3):c.*1673A>G
|
rs1046305868
|
0.00003
|
NM_001042413.2(GLIS3):c.*2927T>G
|
rs886063942
|
0.00003
|
NM_001042413.2(GLIS3):c.*2992C>T
|
rs886063941
|
0.00003
|
NM_001042413.2(GLIS3):c.*3641A>G
|
rs952519785
|
0.00003
|
NM_001042413.2(GLIS3):c.*3776G>C
|
rs552893696
|
0.00003
|
NM_001042413.2(GLIS3):c.*969C>G
|
rs756499534
|
0.00003
|
NM_001042413.2(GLIS3):c.-154C>T
|
rs533529459
|
0.00003
|
NM_001042413.2(GLIS3):c.-641C>A
|
rs886063963
|
0.00003
|
NM_001042413.2(GLIS3):c.1214C>T (p.Pro405Leu)
|
rs764072714
|
0.00003
|
NM_001042413.2(GLIS3):c.2745C>T (p.Thr915=)
|
rs377426046
|
0.00003
|
NM_001042413.2(GLIS3):c.638G>A (p.Ser213Asn)
|
rs748030278
|
0.00003
|
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)
|
rs587782683
|
0.00003
|
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
|
rs771641237
|
0.00003
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
NM_001080467.3(MYO5B):c.*1485G>A
|
rs886053862
|
0.00003
|
NM_001080467.3(MYO5B):c.*2215T>C
|
rs886053858
|
0.00003
|
NM_001080467.3(MYO5B):c.*334A>G
|
rs886053869
|
0.00003
|
NM_001080467.3(MYO5B):c.159T>C (p.Asp53=)
|
rs751520054
|
0.00003
|
NM_001080467.3(MYO5B):c.2223T>G (p.Phe741Leu)
|
rs199963863
|
0.00003
|
NM_001080467.3(MYO5B):c.2506C>T (p.Arg836Cys)
|
rs569933953
|
0.00003
|
NM_001080467.3(MYO5B):c.3920A>G (p.Tyr1307Cys)
|
rs774837934
|
0.00003
|
NM_001080467.3(MYO5B):c.3944+13C>T
|
rs755692896
|
0.00003
|
NM_001080467.3(MYO5B):c.4703G>A (p.Gly1568Asp)
|
rs199737949
|
0.00003
|
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)
|
rs753558336
|
0.00003
|
NM_001109809.5(ZFP57):c.495G>A (p.Val165=)
|
rs771387494
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001122659.3(EDNRB):c.*1151T>A
|
rs1321459235
|
0.00003
|
NM_001122659.3(EDNRB):c.*179G>A
|
rs201848931
|
0.00003
|
NM_001122659.3(EDNRB):c.*1906G>A
|
rs886050320
|
0.00003
|
NM_001122659.3(EDNRB):c.*2580C>T
|
rs1033570814
|
0.00003
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)
|
rs375637651
|
0.00003
|
NM_001122764.3(PPOX):c.-149G>T
|
rs186428034
|
0.00003
|
NM_001127511.3(APC):c.-32C>T
|
rs1015952631
|
0.00003
|
NM_001127511.3(APC):c.-88T>G
|
rs531931776
|
0.00003
|
NM_001127511.3(APC):c.1A>G (p.Met1Val)
|
rs189807660
|
0.00003
|
NM_001142569.3(INAVA):c.178G>T (p.Ala60Ser)
|
rs773330158
|
0.00003
|
NM_001166108.2(PALLD):c.*1655A>T
|
rs976050795
|
0.00003
|
NM_001166108.2(PALLD):c.*1808C>T
|
rs539762995
|
0.00003
|
NM_001166108.2(PALLD):c.*908A>G
|
rs886059212
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12637C>G
|
rs878854264
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12692_1965-12681dup
|
rs778313832
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12903C>G
|
rs1476099718
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12913A>C
|
rs864622422
|
0.00003
|
NM_001166108.2(PALLD):c.2326G>C (p.Glu776Gln)
|
rs559000839
|
0.00003
|
NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr)
|
rs587780200
|
0.00003
|
NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu)
|
rs370652817
|
0.00003
|
NM_001166108.2(PALLD):c.2944G>A (p.Gly982Arg)
|
rs115988233
|
0.00003
|
NM_001166108.2(PALLD):c.3229C>T (p.His1077Tyr)
|
rs778210310
|
0.00003
|
NM_001166108.2(PALLD):c.3244G>A (p.Gly1082Ser)
|
rs745362518
|
0.00003
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
0.00003
|
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)
|
rs773545065
|
0.00003
|
NM_001366110.1(PAX4):c.14-101C>T
|
rs886061970
|
0.00003
|
NM_001366110.1(PAX4):c.14-176C>A
|
rs754931916
|
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.134A>G (p.Glu45Gly)
|
rs138881230
|
0.00003
|
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile)
|
rs908626604
|
0.00003
|
NM_001370466.1(NOD2):c.1865T>C (p.Ile622Thr)
|
rs367637762
|
0.00003
|
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly)
|
rs766687492
|
0.00003
|
NM_001370466.1(NOD2):c.2027G>A (p.Arg676His)
|
rs750096604
|
0.00003
|
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)
|
rs912789864
|
0.00003
|
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser)
|
rs747787438
|
0.00003
|
NM_001370466.1(NOD2):c.2426T>C (p.Ile809Thr)
|
rs763192145
|
0.00003
|
NM_001370466.1(NOD2):c.2465+1G>A
|
rs373550987
|
0.00003
|
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)
|
rs104895486
|
0.00003
|
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)
|
rs571102620
|
0.00003
|
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn)
|
rs104895468
|
0.00003
|
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro)
|
rs759456303
|
0.00003
|
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter)
|
rs757487598
|
0.00003
|
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)
|
rs781333877
|
0.00003
|
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro)
|
rs369098290
|
0.00003
|
NM_001370466.1(NOD2):c.726G>A (p.Pro242=)
|
rs369766454
|
0.00003
|
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro)
|
rs767225117
|
0.00003
|
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)
|
rs773132030
|
0.00003
|
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)
|
rs369732140
|
0.00003
|
NM_001374385.1(ATP8B1):c.*1095A>T
|
rs886054001
|
0.00003
|
NM_001374385.1(ATP8B1):c.*132C>G
|
rs745786597
|
0.00003
|
NM_001374385.1(ATP8B1):c.*531C>T
|
rs758654293
|
0.00003
|
NM_001374385.1(ATP8B1):c.-65C>T
|
rs886054016
|
0.00003
|
NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val)
|
rs767126171
|
0.00003
|
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=)
|
rs370484798
|
0.00003
|
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
|
rs121909098
|
0.00003
|
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)
|
rs200648620
|
0.00003
|
NM_001374385.1(ATP8B1):c.2939A>G (p.Tyr980Cys)
|
rs886054010
|
0.00003
|
NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile)
|
rs771155047
|
0.00003
|
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)
|
rs754912569
|
0.00003
|
NM_001379610.1(SPINK1):c.*27G>T
|
rs368871387
|
0.00003
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)
|
rs765341695
|
0.00003
|
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)
|
rs1249405862
|
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.1040C>T (p.Thr347Met)
|
rs747574092
|
0.00003
|
NM_001558.4(IL10RA):c.1281C>T (p.Pro427=)
|
rs767275130
|
0.00003
|
NM_001558.4(IL10RA):c.16G>C (p.Val6Leu)
|
rs989694807
|
0.00003
|
NM_001558.4(IL10RA):c.514C>T (p.Arg172Cys)
|
rs773555674
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001626.6(AKT2):c.1112G>A (p.Arg371His)
|
rs778561687
|
0.00003
|
NM_001626.6(AKT2):c.526C>T (p.Arg176Cys)
|
rs757233968
|
0.00003
|
NM_001715.2(BLK):c.-531C>T
|
rs538706235
|
0.00003
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
NM_001715.3(BLK):c.154C>A (p.Pro52Thr)
|
rs375173243
|
0.00003
|
NM_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00003
|
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
0.00003
|
NM_001868.4(CPA1):c.295G>A (p.Glu99Lys)
|
rs142112054
|
0.00003
|
NM_001868.4(CPA1):c.527C>T (p.Thr176Met)
|
rs782190459
|
0.00003
|
NM_001868.4(CPA1):c.586-2A>G
|
rs782465366
|
0.00003
|
NM_001868.4(CPA1):c.691A>G (p.Ser231Gly)
|
rs1040062912
|
0.00003
|
NM_001868.4(CPA1):c.709C>T (p.Arg237Cys)
|
rs184981267
|
0.00003
|
NM_001868.4(CPA1):c.776C>T (p.Ala259Val)
|
rs1009079470
|
0.00003
|
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu)
|
rs886054867
|
0.00003
|
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=)
|
rs369410973
|
0.00003
|
NM_002335.4(LRP5):c.1096G>A (p.Val366Met)
|
rs367543496
|
0.00003
|
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile)
|
rs769035778
|
0.00003
|
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser)
|
rs754686025
|
0.00003
|
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr)
|
rs759063931
|
0.00003
|
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys)
|
rs752352965
|
0.00003
|
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu)
|
rs748143518
|
0.00003
|
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp)
|
rs373823574
|
0.00003
|
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp)
|
rs200484935
|
0.00003
|
NM_002354.3(EPCAM):c.194A>C (p.Lys65Thr)
|
rs864622746
|
0.00003
|
NM_002354.3(EPCAM):c.517C>T (p.Arg173Cys)
|
rs747286107
|
0.00003
|
NM_002354.3(EPCAM):c.518G>A (p.Arg173His)
|
rs771569331
|
0.00003
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser)
|
rs587780769
|
0.00003
|
NM_002354.3(EPCAM):c.658-6A>G
|
rs768723264
|
0.00003
|
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr)
|
rs199654191
|
0.00003
|
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile)
|
rs756408490
|
0.00003
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)
|
rs763795192
|
0.00003
|
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)
|
rs770319821
|
0.00003
|
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val)
|
rs1023178766
|
0.00003
|
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)
|
rs781252922
|
0.00003
|
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)
|
rs187172581
|
0.00003
|
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr)
|
rs765295579
|
0.00003
|
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)
|
rs754458532
|
0.00003
|
NM_002769.5(PRSS1):c.200+18G>A
|
rs778658500
|
0.00003
|
NM_002769.5(PRSS1):c.256C>T (p.Gln86Ter)
|
rs146398318
|
0.00003
|
NM_002769.5(PRSS1):c.31G>A (p.Ala11Thr)
|
rs1276830284
|
0.00003
|
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly)
|
rs111033568
|
0.00003
|
NM_002769.5(PRSS1):c.422T>A (p.Ile141Asn)
|
rs748208676
|
0.00003
|
NM_002769.5(PRSS1):c.455C>G (p.Ala152Gly)
|
rs770315312
|
0.00003
|
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)
|
rs61735002
|
0.00003
|
NM_002904.6(NELFE):c.-86C>T
|
rs886061300
|
0.00003
|
NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val)
|
rs781271571
|
0.00003
|
NM_003000.3(SDHB):c.200+4A>C
|
rs774908929
|
0.00003
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
0.00003
|
NM_003051.3(SLC16A1):c.-324T>G
|
rs1019615427
|
0.00003
|
NM_003051.4(SLC16A1):c.*1312G>C
|
rs886045059
|
0.00003
|
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)
|
rs200802632
|
0.00003
|
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)
|
rs773196238
|
0.00003
|
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr)
|
rs777632615
|
0.00003
|
NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met)
|
rs780454096
|
0.00003
|
NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu)
|
rs765883520
|
0.00003
|
NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr)
|
rs761836949
|
0.00003
|
NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn)
|
rs749860291
|
0.00003
|
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser)
|
rs758650568
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003597.5(KLF11):c.-159G>A
|
rs1445533585
|
0.00003
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
0.00003
|
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)
|
rs1553312826
|
0.00003
|
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)
|
rs576350323
|
0.00003
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00003
|
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
NM_003742.4(ABCB11):c.*252T>A
|
rs886055060
|
0.00003
|
NM_003742.4(ABCB11):c.-64A>G
|
rs1036640978
|
0.00003
|
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)
|
rs369132677
|
0.00003
|
NM_003742.4(ABCB11):c.1198-7A>C
|
rs752532486
|
0.00003
|
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln)
|
rs371656014
|
0.00003
|
NM_003742.4(ABCB11):c.1639-4C>T
|
rs780324076
|
0.00003
|
NM_003742.4(ABCB11):c.1639-6A>G
|
rs751634104
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)
|
rs748614674
|
0.00003
|
NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)
|
rs752867315
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004174.4(SLC9A3):c.340G>A (p.Val114Ile)
|
rs200473589
|
0.00003
|
NM_004329.3(BMPR1A):c.-137A>G
|
rs886047360
|
0.00003
|
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu)
|
rs567733221
|
0.00003
|
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met)
|
rs201345248
|
0.00003
|
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser)
|
rs587778112
|
0.00003
|
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)
|
rs574229174
|
0.00003
|
NM_004329.3(BMPR1A):c.65A>C (p.Gln22Pro)
|
rs747437716
|
0.00003
|
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)
|
rs555976452
|
0.00003
|
NM_004360.5(CDH1):c.*409T>A
|
rs778711236
|
0.00003
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
NM_004360.5(CDH1):c.1318A>G (p.Lys440Glu)
|
rs778212100
|
0.00003
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)
|
rs730881666
|
0.00003
|
NM_004360.5(CDH1):c.1585A>C (p.Thr529Pro)
|
rs776890776
|
0.00003
|
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly)
|
rs587781329
|
0.00003
|
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser)
|
rs587782061
|
0.00003
|
NM_004360.5(CDH1):c.1783C>T (p.Pro595Ser)
|
rs755622441
|
0.00003
|
NM_004360.5(CDH1):c.1796C>T (p.Thr599Ile)
|
rs377302798
|
0.00003
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
NM_004360.5(CDH1):c.2052C>T (p.Ser684=)
|
rs764379691
|
0.00003
|
NM_004360.5(CDH1):c.2072C>A (p.Ala691Asp)
|
rs569086883
|
0.00003
|
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)
|
rs376854556
|
0.00003
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
NM_004360.5(CDH1):c.2350C>T (p.Arg784Cys)
|
rs775922721
|
0.00003
|
NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp)
|
rs777363517
|
0.00003
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004360.5(CDH1):c.61C>G (p.Leu21Val)
|
rs863224729
|
0.00003
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
NM_004360.5(CDH1):c.832+17G>C
|
rs373179391
|
0.00003
|
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln)
|
rs745883985
|
0.00003
|
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met)
|
rs761901627
|
0.00003
|
NM_004655.4(AXIN2):c.1179G>C (p.Glu393Asp)
|
rs922684515
|
0.00003
|
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala)
|
rs779863826
|
0.00003
|
NM_004655.4(AXIN2):c.1478C>G (p.Ser493Trp)
|
rs367697282
|
0.00003
|
NM_004655.4(AXIN2):c.1594G>A (p.Glu532Lys)
|
rs755551294
|
0.00003
|
NM_004655.4(AXIN2):c.1714G>A (p.Gly572Ser)
|
rs753824435
|
0.00003
|
NM_004655.4(AXIN2):c.1904A>G (p.His635Arg)
|
rs775207779
|
0.00003
|
NM_004655.4(AXIN2):c.2240A>G (p.His747Arg)
|
rs62640031
|
0.00003
|
NM_004655.4(AXIN2):c.607G>A (p.Gly203Arg)
|
rs62640027
|
0.00003
|
NM_004655.4(AXIN2):c.976C>T (p.Arg326Cys)
|
rs201387209
|
0.00003
|
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)
|
rs201144827
|
0.00003
|
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)
|
rs1011824757
|
0.00003
|
NM_004963.4(GUCY2C):c.202C>T (p.Arg68Cys)
|
rs750915945
|
0.00003
|
NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)
|
rs371835339
|
0.00003
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
NM_005359.6(SMAD4):c.*2630A>G
|
rs768569083
|
0.00003
|
NM_005359.6(SMAD4):c.*3506C>T
|
rs886053913
|
0.00003
|
NM_005359.6(SMAD4):c.*363C>T
|
rs939737709
|
0.00003
|
NM_005359.6(SMAD4):c.*5282T>G
|
rs1389511065
|
0.00003
|
NM_005359.6(SMAD4):c.*850G>A
|
rs886053898
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005359.6(SMAD4):c.332A>C (p.His111Pro)
|
rs1064794363
|
0.00003
|
NM_005431.2(XRCC2):c.641G>A (p.Arg214Gln)
|
rs368445278
|
0.00003
|
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala)
|
rs372794914
|
0.00003
|
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr)
|
rs942866942
|
0.00003
|
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)
|
rs768029820
|
0.00003
|
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)
|
rs544933961
|
0.00003
|
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val)
|
rs749172015
|
0.00003
|
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met)
|
rs368236000
|
0.00003
|
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly)
|
rs143280847
|
0.00003
|
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser)
|
rs566587586
|
0.00003
|
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)
|
rs377102310
|
0.00003
|
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe)
|
rs771391168
|
0.00003
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)
|
rs727504730
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)
|
rs374688808
|
0.00003
|
NM_006206.6(PDGFRA):c.1018C>T (p.Arg340Trp)
|
rs376626935
|
0.00003
|
NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His)
|
rs139103850
|
0.00003
|
NM_006206.6(PDGFRA):c.1133A>T (p.Lys378Ile)
|
rs200113704
|
0.00003
|
NM_006206.6(PDGFRA):c.122T>C (p.Leu41Pro)
|
rs1341010273
|
0.00003
|
NM_006206.6(PDGFRA):c.1832C>T (p.Thr611Ile)
|
rs1406857066
|
0.00003
|
NM_006206.6(PDGFRA):c.2069G>T (p.Arg690Met)
|
rs1344375373
|
0.00003
|
NM_006206.6(PDGFRA):c.2227G>A (p.Val743Ile)
|
rs764957750
|
0.00003
|
NM_006206.6(PDGFRA):c.2341C>A (p.Leu781Ile)
|
rs757362953
|
0.00003
|
NM_006206.6(PDGFRA):c.2440-3C>T
|
rs199544294
|
0.00003
|
NM_006206.6(PDGFRA):c.2494G>A (p.Val832Met)
|
rs1315803700
|
0.00003
|
NM_006206.6(PDGFRA):c.2674+3A>G
|
rs765356009
|
0.00003
|
NM_006206.6(PDGFRA):c.2692G>A (p.Gly898Ser)
|
rs1185214354
|
0.00003
|
NM_006206.6(PDGFRA):c.272C>T (p.Ser91Leu)
|
rs538480165
|
0.00003
|
NM_006206.6(PDGFRA):c.49+4C>T
|
rs756252598
|
0.00003
|
NM_006206.6(PDGFRA):c.842C>T (p.Thr281Met)
|
rs770343276
|
0.00003
|
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr)
|
rs368648130
|
0.00003
|
NM_006206.6(PDGFRA):c.967C>G (p.Gln323Glu)
|
rs138296072
|
0.00003
|
NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr)
|
rs200979664
|
0.00003
|
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)
|
rs762065573
|
0.00003
|
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp)
|
rs138507648
|
0.00003
|
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln)
|
rs768031925
|
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_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_007214.5(SEC63):c.*2876T>C
|
rs375514344
|
0.00003
|
NM_007214.5(SEC63):c.*3107T>C
|
rs778940501
|
0.00003
|
NM_007214.5(SEC63):c.*3116T>C
|
rs994941537
|
0.00003
|
NM_007272.3(CTRC):c.174G>A (p.Thr58=)
|
rs746721892
|
0.00003
|
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)
|
rs769482036
|
0.00003
|
NM_007272.3(CTRC):c.205G>A (p.Val69Ile)
|
rs760911831
|
0.00003
|
NM_007272.3(CTRC):c.356+1G>A
|
rs151102347
|
0.00003
|
NM_007272.3(CTRC):c.485G>A (p.Arg162His)
|
rs775404479
|
0.00003
|
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn)
|
rs780097120
|
0.00003
|
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)
|
rs202058123
|
0.00003
|
NM_007272.3(CTRC):c.737G>A (p.Arg246His)
|
rs147925927
|
0.00003
|
NM_007315.4(STAT1):c.1431G>A (p.Leu477=)
|
rs1384090178
|
0.00003
|
NM_007315.4(STAT1):c.1632+5G>A
|
rs761686482
|
0.00003
|
NM_007315.4(STAT1):c.1744A>G (p.Ile582Val)
|
rs774306421
|
0.00003
|
NM_007315.4(STAT1):c.2059+5G>A
|
rs757528949
|
0.00003
|
NM_007315.4(STAT1):c.2087C>A (p.Pro696His)
|
rs138723664
|
0.00003
|
NM_007315.4(STAT1):c.541+6G>C
|
rs775498408
|
0.00003
|
NM_007315.4(STAT1):c.898G>C (p.Val300Leu)
|
rs143131630
|
0.00003
|
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His)
|
rs782443295
|
0.00003
|
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val)
|
rs369698589
|
0.00003
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
NM_015077.4(SARM1):c.*1097T>C
|
rs542078425
|
0.00003
|
NM_015077.4(SARM1):c.*2034C>T
|
rs1435694827
|
0.00003
|
NM_015077.4(SARM1):c.*2364T>G
|
rs886052749
|
0.00003
|
NM_015077.4(SARM1):c.*3241G>A
|
rs886052752
|
0.00003
|
NM_015077.4(SARM1):c.*562C>G
|
rs886052744
|
0.00003
|
NM_015077.4(SARM1):c.*877T>C
|
rs886052746
|
0.00003
|
NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly)
|
rs370902866
|
0.00003
|
NM_015634.4(KIFBP):c.1848C>A (p.Thr616=)
|
rs371537907
|
0.00003
|
NM_015634.4(KIFBP):c.66G>A (p.Val22=)
|
rs368452753
|
0.00003
|
NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys)
|
rs553951049
|
0.00003
|
NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp)
|
rs372119905
|
0.00003
|
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu)
|
rs757670255
|
0.00003
|
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala)
|
rs763350514
|
0.00003
|
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)
|
rs909339162
|
0.00003
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
NM_016373.4(WWOX):c.746G>A (p.Arg249His)
|
rs756703833
|
0.00003
|
NM_017668.3(NDE1):c.948-3357C>T
|
rs376779423
|
0.00003
|
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu)
|
rs794728668
|
0.00003
|
NM_017763.6(RNF43):c.1157G>A (p.Arg386Gln)
|
rs769498996
|
0.00003
|
NM_017763.6(RNF43):c.1210C>T (p.Arg404Cys)
|
rs767761157
|
0.00003
|
NM_017763.6(RNF43):c.1310G>A (p.Arg437Gln)
|
rs140873038
|
0.00003
|
NM_017763.6(RNF43):c.1697G>A (p.Gly566Asp)
|
rs754444325
|
0.00003
|
NM_018006.4(TRMU):c.-151G>A
|
rs886057608
|
0.00003
|
NM_018006.5(TRMU):c.-15T>C
|
rs764076380
|
0.00003
|
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln)
|
rs200963587
|
0.00003
|
NM_018006.5(TRMU):c.469G>A (p.Val157Ile)
|
rs201755743
|
0.00003
|
NM_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)
|
rs140638866
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
NM_021803.4(IL21):c.119G>A (p.Arg40His)
|
rs141748932
|
0.00003
|
NM_022055.2(KCNK12):c.*8525G>C
|
rs758564047
|
0.00003
|
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)
|
rs558379335
|
0.00003
|
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)
|
rs782728045
|
0.00003
|
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly)
|
rs143866883
|
0.00003
|
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser)
|
rs782760871
|
0.00003
|
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)
|
rs377058108
|
0.00003
|
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala)
|
rs760325217
|
0.00003
|
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)
|
rs201996575
|
0.00003
|
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)
|
rs748538625
|
0.00003
|
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)
|
rs760004891
|
0.00003
|
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)
|
rs764210725
|
0.00003
|
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile)
|
rs139658777
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
rs541028076
|
0.00003
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser)
|
rs766315705
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln)
|
rs147289545
|
0.00003
|
NM_025225.3(PNPLA3):c.406G>C (p.Asp136His)
|
rs749773774
|
0.00003
|
NM_025225.3(PNPLA3):c.697-5C>A
|
rs148469440
|
0.00003
|
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr)
|
rs202225055
|
0.00003
|
NM_053025.4(MYLK):c.1360G>A (p.Val454Met)
|
rs746226982
|
0.00003
|
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp)
|
rs776636237
|
0.00003
|
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu)
|
rs761639849
|
0.00003
|
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys)
|
rs369503342
|
0.00003
|
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys)
|
rs773540567
|
0.00003
|
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg)
|
rs956816227
|
0.00003
|
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met)
|
rs750002545
|
0.00003
|
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)
|
rs140636141
|
0.00003
|
NM_053025.4(MYLK):c.661C>T (p.His221Tyr)
|
rs760622096
|
0.00003
|
NM_080424.4(SP110):c.*204A>T
|
rs76598053
|
0.00003
|
NM_080424.4(SP110):c.1427A>G (p.Tyr476Cys)
|
rs148808440
|
0.00003
|
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)
|
rs201059449
|
0.00003
|
NM_080424.4(SP110):c.2086A>G (p.Lys696Glu)
|
rs370130521
|
0.00003
|
NM_080424.4(SP110):c.2098G>A (p.Gly700Ser)
|
rs141900135
|
0.00003
|
NM_080424.4(SP110):c.952G>C (p.Val318Leu)
|
rs201742692
|
0.00003
|
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu)
|
rs1337596788
|
0.00003
|
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr)
|
rs782457383
|
0.00003
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)
|
rs556510460
|
0.00003
|
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)
|
rs150439088
|
0.00003
|
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)
|
rs369115472
|
0.00003
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)
|
rs369906553
|
0.00003
|
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)
|
rs774491699
|
0.00003
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)
|
rs769250170
|
0.00003
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
NM_173560.4(RFX6):c.2412C>G (p.Ser804Arg)
|
rs751261241
|
0.00003
|
NM_175914.5(HNF4A):c.*1616G>A
|
rs886056685
|
0.00003
|
NM_175914.5(HNF4A):c.*168G>T
|
rs1045382698
|
0.00003
|
NM_175914.5(HNF4A):c.*2779A>C
|
rs755438203
|
0.00003
|
NM_175914.5(HNF4A):c.*572C>A
|
rs761017274
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1216+6C>A
|
rs778818487
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser)
|
rs746659265
|
0.00003
|
NM_207034.3(EDN3):c.*1255C>T
|
rs12322
|
0.00003
|
NM_207034.3(EDN3):c.*586G>A
|
rs886056884
|
0.00003
|
NM_207034.3(EDN3):c.*904A>G
|
rs886056887
|
0.00003
|
NM_000031.6(ALAD):c.*127C>T
|
rs561104906
|
0.00002
|
NM_000031.6(ALAD):c.*498C>T
|
rs1025631016
|
0.00002
|
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn)
|
rs752186527
|
0.00002
|
NM_000038.6(APC):c.1396A>G (p.Met466Val)
|
rs781364007
|
0.00002
|
NM_000038.6(APC):c.1538T>C (p.Val513Ala)
|
rs876658167
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.3437G>A (p.Arg1146His)
|
rs763486328
|
0.00002
|
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)
|
rs760999992
|
0.00002
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)
|
rs529543591
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)
|
rs747797803
|
0.00002
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000097.7(CPOX):c.*66G>A
|
rs886058947
|
0.00002
|
NM_000097.7(CPOX):c.167C>T (p.Thr56Met)
|
rs886058948
|
0.00002
|
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly)
|
rs780436492
|
0.00002
|
NM_000130.5(F5):c.281T>C (p.Val94Ala)
|
rs751093518
|
0.00002
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)
|
rs200805004
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)
|
rs757846343
|
0.00002
|
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu)
|
rs372348666
|
0.00002
|
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu)
|
rs757125418
|
0.00002
|
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)
|
rs536181987
|
0.00002
|
NM_000141.5(FGFR2):c.1561+6C>T
|
rs781352732
|
0.00002
|
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)
|
rs1256546303
|
0.00002
|
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)
|
rs764892330
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000162.5(GCK):c.435C>G (p.Pro145=)
|
rs773281783
|
0.00002
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
0.00002
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00002
|
NM_000179.3(MSH6):c.166_171dup (p.54GP[3])
|
rs786201776
|
0.00002
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
NM_000179.3(MSH6):c.2258C>G (p.Ser753Cys)
|
rs876660934
|
0.00002
|
NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)
|
rs63750725
|
0.00002
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)
|
rs772514245
|
0.00002
|
NM_000179.3(MSH6):c.2889C>T (p.Gly963=)
|
rs771726914
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)
|
rs587779254
|
0.00002
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)
|
rs587781482
|
0.00002
|
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)
|
rs765247025
|
0.00002
|
NM_000179.3(MSH6):c.3698A>C (p.Lys1233Thr)
|
rs766557450
|
0.00002
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp)
|
rs587779938
|
0.00002
|
NM_000179.3(MSH6):c.4000_4001+17dup
|
rs1064794929
|
0.00002
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)
|
rs863225420
|
0.00002
|
NM_000179.3(MSH6):c.628-8C>T
|
rs767991179
|
0.00002
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)
|
rs554884560
|
0.00002
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu)
|
rs368061837
|
0.00002
|
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys)
|
rs189159450
|
0.00002
|
NM_000207.3(INS):c.202C>A (p.Leu68Met)
|
rs121908279
|
0.00002
|
NM_000208.4(INSR):c.*280G>A
|
rs886054685
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000208.4(INSR):c.261C>T (p.Tyr87=)
|
rs145884847
|
0.00002
|
NM_000208.4(INSR):c.2842+4A>T
|
rs369081376
|
0.00002
|
NM_000208.4(INSR):c.2842+6T>A
|
rs767138526
|
0.00002
|
NM_000208.4(INSR):c.2848G>A (p.Val950Ile)
|
rs139944962
|
0.00002
|
NM_000208.4(INSR):c.345C>T (p.Phe115=)
|
rs374952799
|
0.00002
|
NM_000208.4(INSR):c.3669C>T (p.Gly1223=)
|
rs750713967
|
0.00002
|
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala)
|
rs55875349
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)
|
rs372558458
|
0.00002
|
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
|
rs758876727
|
0.00002
|
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)
|
rs1327002160
|
0.00002
|
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)
|
rs547676061
|
0.00002
|
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
|
rs750855317
|
0.00002
|
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser)
|
rs199561320
|
0.00002
|
NM_000214.3(JAG1):c.2227+5C>G
|
rs371127863
|
0.00002
|
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
|
rs368032094
|
0.00002
|
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)
|
rs750570683
|
0.00002
|
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys)
|
rs1452242699
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000222.3(KIT):c.1036C>G (p.Gln346Glu)
|
rs1060502555
|
0.00002
|
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)
|
rs760981584
|
0.00002
|
NM_000222.3(KIT):c.1336A>G (p.Thr446Ala)
|
rs1351743650
|
0.00002
|
NM_000222.3(KIT):c.1396G>A (p.Gly466Arg)
|
rs1282859149
|
0.00002
|
NM_000222.3(KIT):c.154G>A (p.Asp52Asn)
|
rs121913505
|
0.00002
|
NM_000222.3(KIT):c.1582G>A (p.Gly528Ser)
|
rs1326606159
|
0.00002
|
NM_000222.3(KIT):c.159G>C (p.Glu53Asp)
|
rs749431345
|
0.00002
|
NM_000222.3(KIT):c.1655T>C (p.Met552Thr)
|
rs746805825
|
0.00002
|
NM_000222.3(KIT):c.1688T>A (p.Ile563Lys)
|
rs780708976
|
0.00002
|
NM_000222.3(KIT):c.1721C>T (p.Thr574Ile)
|
rs1307097576
|
0.00002
|
NM_000222.3(KIT):c.2057G>A (p.Arg686His)
|
rs143772138
|
0.00002
|
NM_000222.3(KIT):c.2146G>A (p.Asp716Asn)
|
rs769701248
|
0.00002
|
NM_000222.3(KIT):c.2255T>G (p.Val752Gly)
|
rs758665590
|
0.00002
|
NM_000222.3(KIT):c.2266A>G (p.Ile756Val)
|
rs779862483
|
0.00002
|
NM_000222.3(KIT):c.239A>G (p.Asn80Ser)
|
rs1268194684
|
0.00002
|
NM_000222.3(KIT):c.2554G>A (p.Val852Ile)
|
rs555650901
|
0.00002
|
NM_000222.3(KIT):c.2633A>G (p.Lys878Arg)
|
rs1379854779
|
0.00002
|
NM_000222.3(KIT):c.2801A>G (p.His934Arg)
|
rs762406098
|
0.00002
|
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)
|
rs139000082
|
0.00002
|
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)
|
rs587778433
|
0.00002
|
NM_000222.3(KIT):c.287C>T (p.Thr96Met)
|
rs1060502564
|
0.00002
|
NM_000222.3(KIT):c.2890G>A (p.Ala964Thr)
|
rs766845123
|
0.00002
|
NM_000222.3(KIT):c.2894C>T (p.Ser965Phe)
|
rs201185750
|
0.00002
|
NM_000222.3(KIT):c.304G>A (p.Gly102Ser)
|
rs769632130
|
0.00002
|
NM_000222.3(KIT):c.555T>G (p.His185Gln)
|
rs1227095960
|
0.00002
|
NM_000222.3(KIT):c.749A>G (p.Asn250Ser)
|
rs748527429
|
0.00002
|
NM_000222.3(KIT):c.757-7C>G
|
rs760308110
|
0.00002
|
NM_000222.3(KIT):c.757-9A>G
|
rs367986084
|
0.00002
|
NM_000222.3(KIT):c.76C>G (p.Gln26Glu)
|
rs759129060
|
0.00002
|
NM_000222.3(KIT):c.793G>A (p.Gly265Ser)
|
rs1060502570
|
0.00002
|
NM_000222.3(KIT):c.829A>G (p.Ile277Val)
|
rs757547974
|
0.00002
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
NM_000249.4(MLH1):c.1039-10T>A
|
rs1353365805
|
0.00002
|
NM_000249.4(MLH1):c.1039A>C (p.Thr347Pro)
|
rs1191787581
|
0.00002
|
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)
|
rs377484262
|
0.00002
|
NM_000249.4(MLH1):c.145G>A (p.Val49Met)
|
rs760185532
|
0.00002
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
NM_000249.4(MLH1):c.1642T>C (p.Tyr548His)
|
rs780317287
|
0.00002
|
NM_000249.4(MLH1):c.1732-3T>C
|
rs1207710123
|
0.00002
|
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met)
|
rs774878438
|
0.00002
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
NM_000249.4(MLH1):c.482C>T (p.Thr161Met)
|
rs763992299
|
0.00002
|
NM_000249.4(MLH1):c.530T>C (p.Leu177Ser)
|
rs758040210
|
0.00002
|
NM_000249.4(MLH1):c.545+4C>T
|
rs755275241
|
0.00002
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
NM_000249.4(MLH1):c.668C>T (p.Ala223Val)
|
rs756045117
|
0.00002
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
NM_000249.4(MLH1):c.857A>G (p.Lys286Arg)
|
rs775368585
|
0.00002
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00002
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
NM_000251.3(MSH2):c.1014A>C (p.Gly338=)
|
rs774083607
|
0.00002
|
NM_000251.3(MSH2):c.1032G>C (p.Gln344His)
|
rs375799148
|
0.00002
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)
|
rs587782759
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp)
|
rs376044376
|
0.00002
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
NM_000251.3(MSH2):c.2393A>C (p.Asn798Thr)
|
rs786204073
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe)
|
rs774732579
|
0.00002
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)
|
rs730881767
|
0.00002
|
NM_000251.3(MSH2):c.503C>T (p.Ser168Phe)
|
rs1244537662
|
0.00002
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00002
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
NM_000251.3(MSH2):c.646A>G (p.Ile216Val)
|
rs63749936
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000251.3(MSH2):c.808C>G (p.Leu270Val)
|
rs758403441
|
0.00002
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00002
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
|
rs757718008
|
0.00002
|
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)
|
rs2048680804
|
0.00002
|
NM_000292.3(PHKA2):c.3111+5C>T
|
rs756217257
|
0.00002
|
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)
|
rs750886848
|
0.00002
|
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
|
rs186632999
|
0.00002
|
NM_000294.3(PHKG2):c.-3A>G
|
rs1049581523
|
0.00002
|
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
|
rs746361026
|
0.00002
|
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
|
rs756345604
|
0.00002
|
NM_000340.2(SLC2A2):c.10G>C (p.Asp4His)
|
rs200073044
|
0.00002
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
NM_000343.4(SLC5A1):c.*2132C>A
|
rs541518106
|
0.00002
|
NM_000343.4(SLC5A1):c.*638T>C
|
rs1049834917
|
0.00002
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln)
|
rs747215838
|
0.00002
|
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
|
rs200964696
|
0.00002
|
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val)
|
rs773967126
|
0.00002
|
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr)
|
rs199872460
|
0.00002
|
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr)
|
rs759726503
|
0.00002
|
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)
|
rs185883847
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met)
|
rs199872285
|
0.00002
|
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu)
|
rs766404734
|
0.00002
|
NM_000352.6(ABCC8):c.1002C>T (p.Phe334=)
|
rs763978514
|
0.00002
|
NM_000352.6(ABCC8):c.1071C>G (p.Val357=)
|
rs747552453
|
0.00002
|
NM_000352.6(ABCC8):c.1668C>T (p.Leu556=)
|
rs1287759139
|
0.00002
|
NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)
|
rs750619309
|
0.00002
|
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)
|
rs550788491
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.1998G>C (p.Leu666=)
|
rs1191652273
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)
|
rs747902103
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)
|
rs1254230359
|
0.00002
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000352.6(ABCC8):c.3557+20G>C
|
rs764779784
|
0.00002
|
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
|
rs368710356
|
0.00002
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
|
rs774965446
|
0.00002
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
NM_000352.6(ABCC8):c.414C>T (p.Ala138=)
|
rs372766371
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000352.6(ABCC8):c.4412-4T>G
|
rs1476016104
|
0.00002
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
NM_000352.6(ABCC8):c.813C>T (p.Asp271=)
|
rs569222899
|
0.00002
|
NM_000374.4(UROD):c.-67G>A
|
rs767012968
|
0.00002
|
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=)
|
rs886062459
|
0.00002
|
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile)
|
rs774347020
|
0.00002
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
NM_000463.3(UGT1A1):c.*419T>C
|
rs34942353
|
0.00002
|
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn)
|
rs772037816
|
0.00002
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)
|
rs751474685
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NM_000514.4(GDNF):c.*1587G>T
|
rs886060595
|
0.00002
|
NM_000525.4(KCNJ11):c.*40C>T
|
rs746850899
|
0.00002
|
NM_000525.4(KCNJ11):c.-179C>T
|
rs776949660
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=)
|
rs774849547
|
0.00002
|
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)
|
rs1554901851
|
0.00002
|
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)
|
rs756424776
|
0.00002
|
NM_000525.4(KCNJ11):c.762G>A (p.Pro254=)
|
rs761931092
|
0.00002
|
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)
|
rs778225010
|
0.00002
|
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)
|
rs757621300
|
0.00002
|
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg)
|
rs1193170151
|
0.00002
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser)
|
rs777814445
|
0.00002
|
NM_000535.7(PMS2):c.1111A>G (p.Asn371Asp)
|
rs1217473969
|
0.00002
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala)
|
rs762894051
|
0.00002
|
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp)
|
rs1402531091
|
0.00002
|
NM_000535.7(PMS2):c.1357A>G (p.Met453Val)
|
rs587780722
|
0.00002
|
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)
|
rs779306532
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)
|
rs587782500
|
0.00002
|
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys)
|
rs375905814
|
0.00002
|
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala)
|
rs1365849986
|
0.00002
|
NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu)
|
rs754339271
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu)
|
rs1060503140
|
0.00002
|
NM_000535.7(PMS2):c.2453T>C (p.Ile818Thr)
|
rs786202876
|
0.00002
|
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr)
|
rs777470381
|
0.00002
|
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)
|
rs574371474
|
0.00002
|
NM_000535.7(PMS2):c.290A>G (p.Asp97Gly)
|
rs1175866554
|
0.00002
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
NM_000535.7(PMS2):c.592A>G (p.Ile198Val)
|
rs774629715
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp)
|
rs762387250
|
0.00002
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu)
|
rs757409701
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys)
|
rs182085259
|
0.00002
|
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
|
rs761913816
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)
|
rs1401743626
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)
|
rs147198532
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.833G>A (p.Arg278Gln)
|
rs760640415
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000572.3(IL10):c.134G>A (p.Arg45Gln)
|
rs550164520
|
0.00002
|
NM_000572.3(IL10):c.37C>A (p.Leu13Met)
|
rs769236514
|
0.00002
|
NM_000628.5(IL10RB):c.328G>A (p.Asp110Asn)
|
rs757581728
|
0.00002
|
NM_000628.5(IL10RB):c.389G>A (p.Arg130His)
|
rs775140370
|
0.00002
|
NM_000628.5(IL10RB):c.49+5G>A
|
rs1053750670
|
0.00002
|
NM_000628.5(IL10RB):c.593G>A (p.Arg198Gln)
|
rs774890824
|
0.00002
|
NM_001040108.2(MLH3):c.*1312G>A
|
rs559234350
|
0.00002
|
NM_001040108.2(MLH3):c.1004C>T (p.Thr335Ile)
|
rs762823997
|
0.00002
|
NM_001040108.2(MLH3):c.1109G>C (p.Gly370Ala)
|
rs575329147
|
0.00002
|
NM_001040108.2(MLH3):c.1142G>A (p.Arg381His)
|
rs751375245
|
0.00002
|
NM_001040108.2(MLH3):c.124G>A (p.Ala42Thr)
|
rs748676497
|
0.00002
|
NM_001040108.2(MLH3):c.1739A>G (p.Glu580Gly)
|
rs768009140
|
0.00002
|
NM_001040108.2(MLH3):c.1835T>C (p.Val612Ala)
|
rs767938226
|
0.00002
|
NM_001040108.2(MLH3):c.1943A>G (p.His648Arg)
|
rs746239378
|
0.00002
|
NM_001040108.2(MLH3):c.2079G>A (p.Met693Ile)
|
rs779177358
|
0.00002
|
NM_001040108.2(MLH3):c.2330G>A (p.Gly777Glu)
|
rs1027700572
|
0.00002
|
NM_001040108.2(MLH3):c.2568A>C (p.Leu856Phe)
|
rs191623874
|
0.00002
|
NM_001040108.2(MLH3):c.278G>A (p.Arg93Gln)
|
rs781779034
|
0.00002
|
NM_001040108.2(MLH3):c.2819C>T (p.Ser940Phe)
|
rs746725349
|
0.00002
|
NM_001040108.2(MLH3):c.2932A>G (p.Lys978Glu)
|
rs201276317
|
0.00002
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
NM_001040108.2(MLH3):c.3160A>G (p.Arg1054Gly)
|
rs890485767
|
0.00002
|
NM_001040108.2(MLH3):c.3241G>C (p.Asp1081His)
|
rs778369841
|
0.00002
|
NM_001040108.2(MLH3):c.3313G>A (p.Asp1105Asn)
|
rs138589933
|
0.00002
|
NM_001040108.2(MLH3):c.338A>G (p.Lys113Arg)
|
rs755961343
|
0.00002
|
NM_001040108.2(MLH3):c.3568C>A (p.Gln1190Lys)
|
rs779651509
|
0.00002
|
NM_001040108.2(MLH3):c.3724G>A (p.Glu1242Lys)
|
rs116061019
|
0.00002
|
NM_001040108.2(MLH3):c.3887A>G (p.Asp1296Gly)
|
rs373332183
|
0.00002
|
NM_001040108.2(MLH3):c.3941A>G (p.Asn1314Ser)
|
rs200444835
|
0.00002
|
NM_001040108.2(MLH3):c.4135C>T (p.Arg1379Cys)
|
rs376224686
|
0.00002
|
NM_001040108.2(MLH3):c.4136G>A (p.Arg1379His)
|
rs199974481
|
0.00002
|
NM_001040108.2(MLH3):c.4234G>C (p.Glu1412Gln)
|
rs376301349
|
0.00002
|
NM_001040108.2(MLH3):c.4289G>A (p.Arg1430His)
|
rs760305520
|
0.00002
|
NM_001040108.2(MLH3):c.628C>T (p.Arg210Ter)
|
rs770668994
|
0.00002
|
NM_001040108.2(MLH3):c.70C>G (p.Gln24Glu)
|
rs28937870
|
0.00002
|
NM_001040108.2(MLH3):c.808T>G (p.Phe270Val)
|
rs931639997
|
0.00002
|
NM_001040108.2(MLH3):c.962T>C (p.Met321Thr)
|
rs1004768761
|
0.00002
|
NM_001041.4(SI):c.1106A>G (p.Lys369Arg)
|
rs756534501
|
0.00002
|
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)
|
rs370325800
|
0.00002
|
NM_001041.4(SI):c.1311T>C (p.Asn437=)
|
rs886058149
|
0.00002
|
NM_001041.4(SI):c.1616T>C (p.Met539Thr)
|
rs749835475
|
0.00002
|
NM_001041.4(SI):c.178T>C (p.Ser60Pro)
|
rs755487744
|
0.00002
|
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)
|
rs760887527
|
0.00002
|
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)
|
rs376341511
|
0.00002
|
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00002
|
NM_001041.4(SI):c.5109-3T>C
|
rs202110241
|
0.00002
|
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
|
rs771335037
|
0.00002
|
NM_001041.4(SI):c.636-14C>T
|
rs746808951
|
0.00002
|
NM_001041.4(SI):c.653G>T (p.Gly218Val)
|
rs775308282
|
0.00002
|
NM_001041.4(SI):c.788G>A (p.Arg263Gln)
|
rs143135955
|
0.00002
|
NM_001042413.2(GLIS3):c.*2828A>C
|
rs886063943
|
0.00002
|
NM_001042413.2(GLIS3):c.*863T>C
|
rs1209054814
|
0.00002
|
NM_001042413.2(GLIS3):c.-510T>G
|
rs961885195
|
0.00002
|
NM_001042413.2(GLIS3):c.1027C>T (p.Pro343Ser)
|
rs367634911
|
0.00002
|
NM_001042413.2(GLIS3):c.2681C>T (p.Ser894Leu)
|
rs202168959
|
0.00002
|
NM_001042413.2(GLIS3):c.2704C>T (p.Arg902Cys)
|
rs1407324725
|
0.00002
|
NM_001042413.2(GLIS3):c.2705G>A (p.Arg902His)
|
rs772126214
|
0.00002
|
NM_001042413.2(GLIS3):c.950A>G (p.Asn317Ser)
|
rs201716083
|
0.00002
|
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)
|
rs373803765
|
0.00002
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
NM_001080467.3(MYO5B):c.*1039T>A
|
rs886053866
|
0.00002
|
NM_001080467.3(MYO5B):c.*1340G>C
|
rs908667040
|
0.00002
|
NM_001080467.3(MYO5B):c.1840G>A (p.Val614Ile)
|
rs191746501
|
0.00002
|
NM_001080467.3(MYO5B):c.2407G>A (p.Ala803Thr)
|
rs760481978
|
0.00002
|
NM_001080467.3(MYO5B):c.2572-6C>T
|
rs1013131972
|
0.00002
|
NM_001080467.3(MYO5B):c.2812-3C>A
|
rs371540311
|
0.00002
|
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His)
|
rs530758620
|
0.00002
|
NM_001080467.3(MYO5B):c.4440C>T (p.Leu1480=)
|
rs777281668
|
0.00002
|
NM_001080467.3(MYO5B):c.5197G>A (p.Ala1733Thr)
|
rs373990722
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001114753.3(ENG):c.361-12_361-11del
|
rs781079790
|
0.00002
|
NM_001122659.3(EDNRB):c.*1131T>C
|
rs142394468
|
0.00002
|
NM_001122659.3(EDNRB):c.*1474G>A
|
rs886050322
|
0.00002
|
NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser)
|
rs200939685
|
0.00002
|
NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu)
|
rs200548885
|
0.00002
|
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)
|
rs201437745
|
0.00002
|
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys)
|
rs751599052
|
0.00002
|
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile)
|
rs145286580
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)
|
rs587782837
|
0.00002
|
NM_001166108.2(PALLD):c.*153A>G
|
rs535118290
|
0.00002
|
NM_001166108.2(PALLD):c.*400T>C
|
rs748402946
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12535A>C
|
rs878854266
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12552G>C
|
rs557697540
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12639C>G
|
rs1313429903
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12724C>T
|
rs1311193979
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12870T>C
|
rs1474793366
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12918A>G
|
rs888513189
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12937C>T
|
rs863224705
|
0.00002
|
NM_001166108.2(PALLD):c.1965-13000G>T
|
rs370602081
|
0.00002
|
NM_001166108.2(PALLD):c.2066G>A (p.Arg689His)
|
rs758090588
|
0.00002
|
NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr)
|
rs757164572
|
0.00002
|
NM_001166108.2(PALLD):c.2294T>C (p.Ile765Thr)
|
rs749391847
|
0.00002
|
NM_001166108.2(PALLD):c.2303G>A (p.Arg768Lys)
|
rs1385898569
|
0.00002
|
NM_001166108.2(PALLD):c.2312G>A (p.Arg771Lys)
|
rs201707558
|
0.00002
|
NM_001166108.2(PALLD):c.2482T>C (p.Phe828Leu)
|
rs1160463247
|
0.00002
|
NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg)
|
rs761530979
|
0.00002
|
NM_001166108.2(PALLD):c.2797G>A (p.Ala933Thr)
|
rs755556663
|
0.00002
|
NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu)
|
rs756934356
|
0.00002
|
NM_001166108.2(PALLD):c.2815G>C (p.Val939Leu)
|
rs778471055
|
0.00002
|
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala)
|
rs750112132
|
0.00002
|
NM_001166108.2(PALLD):c.2935C>T (p.Arg979Cys)
|
rs367575623
|
0.00002
|
NM_001166108.2(PALLD):c.2999C>T (p.Thr1000Ile)
|
rs201412478
|
0.00002
|
NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr)
|
rs774078101
|
0.00002
|
NM_001166108.2(PALLD):c.3133C>T (p.Arg1045Trp)
|
rs753881003
|
0.00002
|
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=)
|
rs757791701
|
0.00002
|
NM_001166108.2(PALLD):c.860G>A (p.Arg287Gln)
|
rs141283998
|
0.00002
|
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)
|
rs28989181
|
0.00002
|
NM_001289104.2(PRKCSH):c.*106G>A
|
rs551163875
|
0.00002
|
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn)
|
rs764376521
|
0.00002
|
NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=)
|
rs138505797
|
0.00002
|
NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met)
|
rs747755213
|
0.00002
|
NM_001348946.2(ABCB1):c.470G>A (p.Arg157Gln)
|
rs202002337
|
0.00002
|
NM_001370466.1(NOD2):c.*394C>T
|
rs886052048
|
0.00002
|
NM_001370466.1(NOD2):c.-8-2171G>A
|
rs571559366
|
0.00002
|
NM_001370466.1(NOD2):c.1003del (p.Asp335fs)
|
rs766265864
|
0.00002
|
NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala)
|
rs775443143
|
0.00002
|
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn)
|
rs147283871
|
0.00002
|
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe)
|
rs753241960
|
0.00002
|
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys)
|
rs146149433
|
0.00002
|
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys)
|
rs769988393
|
0.00002
|
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)
|
rs367819045
|
0.00002
|
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val)
|
rs104895439
|
0.00002
|
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln)
|
rs757895989
|
0.00002
|
NM_001370466.1(NOD2):c.1923del (p.His642fs)
|
rs758485603
|
0.00002
|
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)
|
rs104895440
|
0.00002
|
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys)
|
rs768889214
|
0.00002
|
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly)
|
rs746965976
|
0.00002
|
NM_001370466.1(NOD2):c.2802-2A>G
|
rs564226539
|
0.00002
|
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp)
|
rs771184127
|
0.00002
|
NM_001374385.1(ATP8B1):c.*1403G>A
|
rs1277260486
|
0.00002
|
NM_001374385.1(ATP8B1):c.*1629T>C
|
rs367994135
|
0.00002
|
NM_001374385.1(ATP8B1):c.*1851G>C
|
rs1425339940
|
0.00002
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)
|
rs144656719
|
0.00002
|
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=)
|
rs375842507
|
0.00002
|
NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile)
|
rs754073606
|
0.00002
|
NM_001379610.1(SPINK1):c.*48C>T
|
rs763350070
|
0.00002
|
NM_001386140.1(MTTP):c.*38G>A
|
rs561157874
|
0.00002
|
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)
|
rs756155398
|
0.00002
|
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu)
|
rs751715076
|
0.00002
|
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)
|
rs1419028802
|
0.00002
|
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)
|
rs146548751
|
0.00002
|
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
0.00002
|
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln)
|
rs746948055
|
0.00002
|
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
NM_001558.4(IL10RA):c.*576G>C
|
rs773690502
|
0.00002
|
NM_001558.4(IL10RA):c.114T>A (p.Phe38Leu)
|
rs200175106
|
0.00002
|
NM_001558.4(IL10RA):c.1181_1237del (p.Asn394_Ala413delinsThr)
|
rs2058075257
|
0.00002
|
NM_001558.4(IL10RA):c.1247C>T (p.Thr416Ile)
|
rs200254237
|
0.00002
|
NM_001558.4(IL10RA):c.1321G>A (p.Val441Met)
|
rs748235778
|
0.00002
|
NM_001558.4(IL10RA):c.1369G>A (p.Ala457Thr)
|
rs764129646
|
0.00002
|
NM_001558.4(IL10RA):c.1537A>G (p.Thr513Ala)
|
rs376393999
|
0.00002
|
NM_001558.4(IL10RA):c.1718G>A (p.Ser573Asn)
|
rs1338593881
|
0.00002
|
NM_001558.4(IL10RA):c.313G>A (p.Gly105Ser)
|
rs188378450
|
0.00002
|
NM_001558.4(IL10RA):c.67+6G>T
|
rs1182312522
|
0.00002
|
NM_001558.4(IL10RA):c.72A>C (p.Thr24=)
|
rs560128585
|
0.00002
|
NM_001558.4(IL10RA):c.824C>T (p.Pro275Leu)
|
rs763599491
|
0.00002
|
NM_001613.4(ACTA2):c.129+5G>A
|
rs373402293
|
0.00002
|
NM_001613.4(ACTA2):c.369+7A>G
|
rs760471677
|
0.00002
|
NM_001626.6(AKT2):c.169G>A (p.Val57Ile)
|
rs1407888862
|
0.00002
|
NM_001626.6(AKT2):c.550C>T (p.Arg184Trp)
|
rs752597471
|
0.00002
|
NM_001715.3(BLK):c.41C>T (p.Pro14Leu)
|
rs769734763
|
0.00002
|
NM_001715.3(BLK):c.571C>A (p.Pro191Thr)
|
rs769895420
|
0.00002
|
NM_001715.3(BLK):c.773-9C>T
|
rs772158649
|
0.00002
|
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr)
|
rs777913068
|
0.00002
|
NM_001807.6(CEL):c.341-2A>G
|
rs755075929
|
0.00002
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
NM_001868.4(CPA1):c.114G>C (p.Lys38Asn)
|
rs782393347
|
0.00002
|
NM_001868.4(CPA1):c.1151C>T (p.Thr384Ile)
|
rs782571072
|
0.00002
|
NM_001868.4(CPA1):c.1192C>T (p.Pro398Ser)
|
rs782420276
|
0.00002
|
NM_001868.4(CPA1):c.1193C>T (p.Pro398Leu)
|
rs370058970
|
0.00002
|
NM_001868.4(CPA1):c.1217C>T (p.Ala406Val)
|
rs186407335
|
0.00002
|
NM_001868.4(CPA1):c.1228A>G (p.Ile410Val)
|
rs782718650
|
0.00002
|
NM_001868.4(CPA1):c.147+4A>C
|
rs1459226203
|
0.00002
|
NM_001868.4(CPA1):c.197G>A (p.Arg66Gln)
|
rs201332778
|
0.00002
|
NM_001868.4(CPA1):c.329G>A (p.Arg110Gln)
|
rs537076438
|
0.00002
|
NM_001868.4(CPA1):c.523G>A (p.Asp175Asn)
|
rs782556361
|
0.00002
|
NM_001868.4(CPA1):c.65+3A>G
|
rs577008275
|
0.00002
|
NM_001868.4(CPA1):c.718C>T (p.Arg240Trp)
|
rs200036285
|
0.00002
|
NM_001868.4(CPA1):c.815C>T (p.Ser272Leu)
|
rs911586927
|
0.00002
|
NM_001868.4(CPA1):c.847G>A (p.Glu283Lys)
|
rs782561684
|
0.00002
|
NM_002253.4(KDR):c.3405-4C>T
|
rs370501217
|
0.00002
|
NM_002299.4(LCT):c.3759G>A (p.Thr1253=)
|
rs764860323
|
0.00002
|
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)
|
rs555708380
|
0.00002
|
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met)
|
rs746292760
|
0.00002
|
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg)
|
rs558895370
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu)
|
rs532035027
|
0.00002
|
NM_002335.4(LRP5):c.2134G>A (p.Val712Met)
|
rs765239493
|
0.00002
|
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys)
|
rs775431782
|
0.00002
|
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys)
|
rs760734426
|
0.00002
|
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser)
|
rs776554205
|
0.00002
|
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys)
|
rs768840999
|
0.00002
|
NM_002335.4(LRP5):c.3427+12G>A
|
rs756103866
|
0.00002
|
NM_002335.4(LRP5):c.3637+4C>T
|
rs746451473
|
0.00002
|
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His)
|
rs143924910
|
0.00002
|
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val)
|
rs949211640
|
0.00002
|
NM_002335.4(LRP5):c.3844G>A (p.Gly1282Ser)
|
rs747015625
|
0.00002
|
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr)
|
rs746686714
|
0.00002
|
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile)
|
rs1300430679
|
0.00002
|
NM_002335.4(LRP5):c.4225C>T (p.Arg1409Cys)
|
rs759834541
|
0.00002
|
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile)
|
rs758606794
|
0.00002
|
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro)
|
rs776646187
|
0.00002
|
NM_002354.3(EPCAM):c.426-1G>A
|
rs373597944
|
0.00002
|
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser)
|
rs587780766
|
0.00002
|
NM_002354.3(EPCAM):c.7C>T (p.Pro3Ser)
|
rs587780772
|
0.00002
|
NM_002354.3(EPCAM):c.815T>C (p.Ile272Thr)
|
rs377276151
|
0.00002
|
NM_002354.3(EPCAM):c.833C>T (p.Ala278Val)
|
rs778825812
|
0.00002
|
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg)
|
rs777426396
|
0.00002
|
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)
|
rs760793367
|
0.00002
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln)
|
rs771297865
|
0.00002
|
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)
|
rs534384552
|
0.00002
|
NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys)
|
rs758102556
|
0.00002
|
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu)
|
rs151101824
|
0.00002
|
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys)
|
rs748356212
|
0.00002
|
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp)
|
rs759409339
|
0.00002
|
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)
|
rs369409348
|
0.00002
|
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu)
|
rs756025504
|
0.00002
|
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)
|
rs757542362
|
0.00002
|
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)
|
rs1443593366
|
0.00002
|
NM_002474.3(MYH11):c.5C>T (p.Ala2Val)
|
rs150600829
|
0.00002
|
NM_002666.5(PLIN1):c.991C>T (p.Leu331Phe)
|
rs759726625
|
0.00002
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln)
|
rs773665739
|
0.00002
|
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser)
|
rs751088347
|
0.00002
|
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys)
|
rs779208942
|
0.00002
|
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe)
|
rs765342413
|
0.00002
|
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val)
|
rs772363999
|
0.00002
|
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)
|
rs199422123
|
0.00002
|
NM_002769.5(PRSS1):c.443C>G (p.Ala148Gly)
|
rs762545562
|
0.00002
|
NM_002769.5(PRSS1):c.454G>A (p.Ala152Thr)
|
rs766731858
|
0.00002
|
NM_002769.5(PRSS1):c.605G>C (p.Gly202Ala)
|
rs199531292
|
0.00002
|
NM_002769.5(PRSS1):c.702C>A (p.Asn234Lys)
|
rs773353079
|
0.00002
|
NM_002769.5(PRSS1):c.73G>A (p.Val25Ile)
|
rs768051473
|
0.00002
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)
|
rs779279429
|
0.00002
|
NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys)
|
rs750951308
|
0.00002
|
NM_003183.6(ADAM17):c.1648+4C>T
|
rs368540920
|
0.00002
|
NM_003183.6(ADAM17):c.1723G>C (p.Asp575His)
|
rs767693528
|
0.00002
|
NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser)
|
rs756429621
|
0.00002
|
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu)
|
rs372189309
|
0.00002
|
NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg)
|
rs764293730
|
0.00002
|
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val)
|
rs747536329
|
0.00002
|
NM_003597.5(KLF11):c.*1320G>A
|
rs555032852
|
0.00002
|
NM_003597.5(KLF11):c.*2081C>T
|
rs886054736
|
0.00002
|
NM_003597.5(KLF11):c.*954C>G
|
rs886054728
|
0.00002
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)
|
rs375265808
|
0.00002
|
NM_003742.4(ABCB11):c.-78C>T
|
rs746730049
|
0.00002
|
NM_003742.4(ABCB11):c.1435-11A>G
|
rs762147612
|
0.00002
|
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)
|
rs886055066
|
0.00002
|
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)
|
rs964285984
|
0.00002
|
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)
|
rs759792321
|
0.00002
|
NM_003924.4(PHOX2B):c.662C>T (p.Ala221Val)
|
rs777194995
|
0.00002
|
NM_003924.4(PHOX2B):c.679G>T (p.Ala227Ser)
|
rs778799670
|
0.00002
|
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)
|
rs1335294030
|
0.00002
|
NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp)
|
rs1044995380
|
0.00002
|
NM_003924.4(PHOX2B):c.719G>A (p.Gly240Asp)
|
rs917558720
|
0.00002
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
NM_003924.4(PHOX2B):c.905A>G (p.Asn302Ser)
|
rs779068107
|
0.00002
|
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)
|
rs767873201
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004174.4(SLC9A3):c.1862A>G (p.Gln621Arg)
|
rs202223784
|
0.00002
|
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His)
|
rs749571434
|
0.00002
|
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=)
|
rs759520915
|
0.00002
|
NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala)
|
rs1060503403
|
0.00002
|
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)
|
rs587780108
|
0.00002
|
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val)
|
rs587781503
|
0.00002
|
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln)
|
rs567009904
|
0.00002
|
NM_004329.3(BMPR1A):c.47T>A (p.Phe16Tyr)
|
rs151235720
|
0.00002
|
NM_004329.3(BMPR1A):c.53T>C (p.Ile18Thr)
|
rs745920240
|
0.00002
|
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)
|
rs189059377
|
0.00002
|
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp)
|
rs771444196
|
0.00002
|
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)
|
rs141608069
|
0.00002
|
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln)
|
rs147971049
|
0.00002
|
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)
|
rs730881434
|
0.00002
|
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)
|
rs755462552
|
0.00002
|
NM_004360.5(CDH1):c.*1435A>T
|
rs886052245
|
0.00002
|
NM_004360.5(CDH1):c.*582C>A
|
rs920956371
|
0.00002
|
NM_004360.5(CDH1):c.-29C>G
|
rs1057521843
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00002
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
NM_004360.5(CDH1):c.1181C>T (p.Thr394Ile)
|
rs1332444039
|
0.00002
|
NM_004360.5(CDH1):c.1248G>C (p.Leu416Phe)
|
rs772622537
|
0.00002
|
NM_004360.5(CDH1):c.1261G>A (p.Gly421Arg)
|
rs747256664
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004360.5(CDH1):c.1293C>G (p.Asn431Lys)
|
rs767350265
|
0.00002
|
NM_004360.5(CDH1):c.1300G>C (p.Gly434Arg)
|
rs587781783
|
0.00002
|
NM_004360.5(CDH1):c.1342C>G (p.Gln448Glu)
|
rs1421067964
|
0.00002
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
NM_004360.5(CDH1):c.1484T>C (p.Val495Ala)
|
rs786202482
|
0.00002
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
NM_004360.5(CDH1):c.1555C>A (p.Gln519Lys)
|
rs773763544
|
0.00002
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00002
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
NM_004360.5(CDH1):c.1942G>C (p.Glu648Gln)
|
rs971882211
|
0.00002
|
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe)
|
rs1238607560
|
0.00002
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00002
|
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr)
|
rs878854681
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
0.00002
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
NM_004360.5(CDH1):c.2558C>T (p.Ser853Leu)
|
rs569928380
|
0.00002
|
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)
|
rs142927667
|
0.00002
|
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)
|
rs778019174
|
0.00002
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
NM_004360.5(CDH1):c.2614C>A (p.Leu872Met)
|
rs749203461
|
0.00002
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
NM_004360.5(CDH1):c.276T>G (p.His92Gln)
|
rs770967343
|
0.00002
|
NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)
|
rs587782023
|
0.00002
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
NM_004360.5(CDH1):c.388-14T>G
|
rs769151434
|
0.00002
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
NM_004360.5(CDH1):c.406C>A (p.Gln136Lys)
|
rs753886948
|
0.00002
|
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)
|
rs786201212
|
0.00002
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
NM_004360.5(CDH1):c.833-34T>C
|
rs574599168
|
0.00002
|
NM_004360.5(CDH1):c.845T>C (p.Met282Thr)
|
rs730881652
|
0.00002
|
NM_004360.5(CDH1):c.866C>T (p.Ala289Val)
|
rs780399325
|
0.00002
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
NM_004655.4(AXIN2):c.1384C>T (p.Pro462Ser)
|
rs1060502156
|
0.00002
|
NM_004655.4(AXIN2):c.1445C>T (p.Pro482Leu)
|
rs758495825
|
0.00002
|
NM_004655.4(AXIN2):c.1747G>A (p.Gly583Arg)
|
rs748860876
|
0.00002
|
NM_004655.4(AXIN2):c.2011C>T (p.Arg671Cys)
|
rs754506970
|
0.00002
|
NM_004655.4(AXIN2):c.356A>G (p.Gln119Arg)
|
rs777282977
|
0.00002
|
NM_004655.4(AXIN2):c.428G>A (p.Ser143Asn)
|
rs761849564
|
0.00002
|
NM_004655.4(AXIN2):c.527C>T (p.Thr176Ile)
|
rs878854731
|
0.00002
|
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
|
rs759865842
|
0.00002
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)
|
rs892387294
|
0.00002
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
NM_005359.6(SMAD4):c.*1457C>T
|
rs886053901
|
0.00002
|
NM_005359.6(SMAD4):c.*245T>C
|
rs753295366
|
0.00002
|
NM_005359.6(SMAD4):c.*2675A>C
|
rs1352805500
|
0.00002
|
NM_005359.6(SMAD4):c.*2682T>C
|
rs557955183
|
0.00002
|
NM_005359.6(SMAD4):c.*2693A>G
|
rs778780100
|
0.00002
|
NM_005359.6(SMAD4):c.*580A>G
|
rs1421486746
|
0.00002
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
NM_005359.6(SMAD4):c.1140-11T>A
|
rs1224777335
|
0.00002
|
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)
|
rs757211048
|
0.00002
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)
|
rs587780792
|
0.00002
|
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser)
|
rs138386557
|
0.00002
|
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu)
|
rs370176106
|
0.00002
|
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)
|
rs776037433
|
0.00002
|
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr)
|
rs767998582
|
0.00002
|
NM_006005.3(WFS1):c.1550G>A (p.Arg517His)
|
rs150394063
|
0.00002
|
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile)
|
rs1057524890
|
0.00002
|
NM_006005.3(WFS1):c.2125G>A (p.Val709Met)
|
rs761216725
|
0.00002
|
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr)
|
rs563972671
|
0.00002
|
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)
|
rs199769524
|
0.00002
|
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
|
rs200528166
|
0.00002
|
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)
|
rs367547063
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr)
|
rs1252423572
|
0.00002
|
NM_006005.3(WFS1):c.401C>T (p.Ala134Val)
|
rs746010848
|
0.00002
|
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr)
|
rs760226129
|
0.00002
|
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe)
|
rs71537678
|
0.00002
|
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp)
|
rs750291946
|
0.00002
|
NM_006206.6(PDGFRA):c.*136G>A
|
rs886059450
|
0.00002
|
NM_006206.6(PDGFRA):c.1237+3A>T
|
rs760562117
|
0.00002
|
NM_006206.6(PDGFRA):c.1330G>C (p.Asp444His)
|
rs745702167
|
0.00002
|
NM_006206.6(PDGFRA):c.1628T>C (p.Ile543Thr)
|
rs755486487
|
0.00002
|
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His)
|
rs761924292
|
0.00002
|
NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile)
|
rs138740193
|
0.00002
|
NM_006206.6(PDGFRA):c.1895C>T (p.Thr632Met)
|
rs572964298
|
0.00002
|
NM_006206.6(PDGFRA):c.2001A>G (p.Ser667=)
|
rs1560483194
|
0.00002
|
NM_006206.6(PDGFRA):c.2152C>T (p.Arg718Trp)
|
rs375434317
|
0.00002
|
NM_006206.6(PDGFRA):c.2153G>A (p.Arg718Gln)
|
rs367722824
|
0.00002
|
NM_006206.6(PDGFRA):c.2411G>A (p.Arg804Gln)
|
rs571523023
|
0.00002
|
NM_006206.6(PDGFRA):c.2534A>G (p.His845Arg)
|
rs777679907
|
0.00002
|
NM_006206.6(PDGFRA):c.2781G>C (p.Glu927Asp)
|
rs759251401
|
0.00002
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
NM_006206.6(PDGFRA):c.2881-3T>C
|
rs750914477
|
0.00002
|
NM_006206.6(PDGFRA):c.2936G>A (p.Arg979His)
|
rs587778598
|
0.00002
|
NM_006206.6(PDGFRA):c.2939T>C (p.Met980Thr)
|
rs1381392993
|
0.00002
|
NM_006206.6(PDGFRA):c.2998C>G (p.Leu1000Val)
|
rs568721384
|
0.00002
|
NM_006206.6(PDGFRA):c.3040G>A (p.Ala1014Thr)
|
rs768291477
|
0.00002
|
NM_006206.6(PDGFRA):c.3077A>G (p.Asp1026Gly)
|
rs1418641601
|
0.00002
|
NM_006206.6(PDGFRA):c.3083T>C (p.Val1028Ala)
|
rs765476521
|
0.00002
|
NM_006206.6(PDGFRA):c.3218del (p.Met1073fs)
|
rs756442272
|
0.00002
|
NM_006206.6(PDGFRA):c.50G>T (p.Gly17Val)
|
rs766600687
|
0.00002
|
NM_006206.6(PDGFRA):c.512C>T (p.Ser171Phe)
|
rs758027394
|
0.00002
|
NM_006206.6(PDGFRA):c.517G>A (p.Asp173Asn)
|
rs763718380
|
0.00002
|
NM_006206.6(PDGFRA):c.592T>A (p.Phe198Ile)
|
rs562479351
|
0.00002
|
NM_006206.6(PDGFRA):c.809A>C (p.Lys270Thr)
|
rs545359247
|
0.00002
|
NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys)
|
rs762106764
|
0.00002
|
NM_006206.6(PDGFRA):c.982A>G (p.Asn328Asp)
|
rs772538462
|
0.00002
|
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)
|
rs373000452
|
0.00002
|
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys)
|
rs1377657524
|
0.00002
|
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu)
|
rs777002868
|
0.00002
|
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala)
|
rs779102091
|
0.00002
|
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu)
|
rs772686048
|
0.00002
|
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)
|
rs771980261
|
0.00002
|
NM_006412.4(AGPAT2):c.455T>C (p.Val152Ala)
|
rs1230993149
|
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_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007214.5(SEC63):c.*1113T>C
|
rs886060953
|
0.00002
|
NM_007214.5(SEC63):c.*2522G>C
|
rs886060943
|
0.00002
|
NM_007214.5(SEC63):c.*549C>T
|
rs1251167096
|
0.00002
|
NM_007214.5(SEC63):c.910C>A (p.Leu304Ile)
|
rs745328381
|
0.00002
|
NM_007272.3(CTRC):c.109C>T (p.Arg37Trp)
|
rs770675516
|
0.00002
|
NM_007272.3(CTRC):c.230+6C>T
|
rs1331333297
|
0.00002
|
NM_007272.3(CTRC):c.247C>G (p.Arg83Gly)
|
rs747679121
|
0.00002
|
NM_007272.3(CTRC):c.35C>T (p.Ala12Val)
|
rs1318452999
|
0.00002
|
NM_007272.3(CTRC):c.599T>C (p.Met200Thr)
|
rs1004695259
|
0.00002
|
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr)
|
rs750408563
|
0.00002
|
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr)
|
rs768414501
|
0.00002
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met)
|
rs527393923
|
0.00002
|
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser)
|
rs771750276
|
0.00002
|
NM_007315.4(STAT1):c.972C>T (p.Cys324=)
|
rs1181331709
|
0.00002
|
NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys)
|
rs373363244
|
0.00002
|
NM_013372.7(GREM1):c.169A>C (p.Asn57His)
|
rs754206331
|
0.00002
|
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val)
|
rs1432262933
|
0.00002
|
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg)
|
rs587780340
|
0.00002
|
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln)
|
rs782628979
|
0.00002
|
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln)
|
rs1557116525
|
0.00002
|
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala)
|
rs781856708
|
0.00002
|
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg)
|
rs1237648287
|
0.00002
|
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser)
|
rs1557116742
|
0.00002
|
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe)
|
rs1395972442
|
0.00002
|
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe)
|
rs781902347
|
0.00002
|
NM_014009.4(FOXP3):c.977A>G (p.His326Arg)
|
rs782429831
|
0.00002
|
NM_015077.4(SARM1):c.*2072C>T
|
rs139970165
|
0.00002
|
NM_015077.4(SARM1):c.2014A>G (p.Met672Val)
|
rs782774927
|
0.00002
|
NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro)
|
rs757781374
|
0.00002
|
NM_015634.4(KIFBP):c.60G>C (p.Ser20=)
|
rs773495989
|
0.00002
|
NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys)
|
rs547582634
|
0.00002
|
NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val)
|
rs767605543
|
0.00002
|
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys)
|
rs746347880
|
0.00002
|
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu)
|
rs773020868
|
0.00002
|
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala)
|
rs1043649931
|
0.00002
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_017763.6(RNF43):c.1720G>A (p.Gly574Arg)
|
rs112997544
|
0.00002
|
NM_017763.6(RNF43):c.185A>G (p.Asn62Ser)
|
rs1206047972
|
0.00002
|
NM_017763.6(RNF43):c.2279C>T (p.Pro760Leu)
|
rs760426158
|
0.00002
|
NM_017763.6(RNF43):c.2294T>C (p.Leu765Pro)
|
rs748813654
|
0.00002
|
NM_017763.6(RNF43):c.340C>T (p.Arg114Trp)
|
rs768842372
|
0.00002
|
NM_017763.6(RNF43):c.683G>A (p.Arg228Lys)
|
rs1208556981
|
0.00002
|
NM_018006.5(TRMU):c.*320A>G
|
rs1476756148
|
0.00002
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu)
|
rs199943967
|
0.00002
|
NM_018006.5(TRMU):c.96_97del (p.Phe35fs)
|
rs762738569
|
0.00002
|
NM_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)
|
rs138624658
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_020975.6(RET):c.2038G>A (p.Ala680Thr)
|
rs184498773
|
0.00002
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
NM_020975.6(RET):c.2870C>T (p.Pro957Leu)
|
rs1259087541
|
0.00002
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.488G>A (p.Arg163Gln)
|
rs149403911
|
0.00002
|
NM_020975.6(RET):c.682G>C (p.Ala228Pro)
|
rs760813493
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00002
|
NM_021930.6(RINT1):c.2361G>A (p.Trp787Ter)
|
rs747595808
|
0.00002
|
NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)
|
rs139612373
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_024079.5(ALG8):c.897C>T (p.Ile299=)
|
rs886048686
|
0.00002
|
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)
|
rs376526633
|
0.00002
|
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser)
|
rs782191722
|
0.00002
|
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met)
|
rs782536553
|
0.00002
|
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln)
|
rs587737953
|
0.00002
|
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)
|
rs761367735
|
0.00002
|
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln)
|
rs142978073
|
0.00002
|
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys)
|
rs746551843
|
0.00002
|
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile)
|
rs1470762283
|
0.00002
|
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro)
|
rs780904023
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe)
|
rs730881899
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter)
|
rs764895790
|
0.00002
|
NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser)
|
rs138922775
|
0.00002
|
NM_032830.3(UTP4):c.531C>T (p.Ser177=)
|
rs370682701
|
0.00002
|
NM_032830.3(UTP4):c.57C>A (p.Ile19=)
|
rs141243868
|
0.00002
|
NM_032830.3(UTP4):c.871C>T (p.Arg291Cys)
|
rs773025409
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_053025.4(MYLK):c.157G>A (p.Glu53Lys)
|
rs376586087
|
0.00002
|
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg)
|
rs754817817
|
0.00002
|
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser)
|
rs587782966
|
0.00002
|
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala)
|
rs777200220
|
0.00002
|
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile)
|
rs752986671
|
0.00002
|
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg)
|
rs759317891
|
0.00002
|
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln)
|
rs142421063
|
0.00002
|
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp)
|
rs587782967
|
0.00002
|
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His)
|
rs762795374
|
0.00002
|
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn)
|
rs140456660
|
0.00002
|
NM_053025.4(MYLK):c.524G>T (p.Gly175Val)
|
rs375456836
|
0.00002
|
NM_080424.4(SP110):c.1301T>C (p.Ile434Thr)
|
rs140716014
|
0.00002
|
NM_080424.4(SP110):c.1547G>A (p.Arg516Gln)
|
rs763875680
|
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.317T>C (p.Val106Ala)
|
rs768821081
|
0.00002
|
NM_080424.4(SP110):c.386A>G (p.Glu129Gly)
|
rs140974206
|
0.00002
|
NM_080424.4(SP110):c.413C>T (p.Ala138Val)
|
rs114017623
|
0.00002
|
NM_080424.4(SP110):c.899-3C>T
|
rs200606484
|
0.00002
|
NM_080424.4(SP110):c.934C>G (p.Leu312Val)
|
rs1056828943
|
0.00002
|
NM_080424.4(SP110):c.938A>G (p.Lys313Arg)
|
rs1317519602
|
0.00002
|
NM_080669.6(SLC46A1):c.-8G>A
|
rs782192529
|
0.00002
|
NM_138711.6(PPARG):c.1295A>G (p.Lys432Arg)
|
rs756523051
|
0.00002
|
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr)
|
rs747582277
|
0.00002
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
|
rs557336321
|
0.00002
|
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)
|
rs766801011
|
0.00002
|
NM_144997.7(FLCN):c.249+2C>T
|
rs939223011
|
0.00002
|
NM_144997.7(FLCN):c.396+6C>T
|
rs747922795
|
0.00002
|
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr)
|
rs1215424724
|
0.00002
|
NM_175914.5(HNF4A):c.*867G>A
|
rs940169046
|
0.00002
|
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)
|
rs758836138
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln)
|
rs561302824
|
0.00002
|
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)
|
rs886046909
|
0.00002
|
NM_178161.3(PTF1A):c.654C>A (p.Leu218=)
|
rs886046910
|
0.00002
|
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)
|
rs200232092
|
0.00002
|
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
NM_207034.3(EDN3):c.*1517C>A
|
rs1010065773
|
0.00002
|
NM_207034.3(EDN3):c.*756C>T
|
rs763311172
|
0.00002
|
NM_207034.3(EDN3):c.*963G>A
|
rs559849084
|
0.00002
|
NM_207034.3(EDN3):c.-120C>T
|
rs886056872
|
0.00002
|
NM_000031.6(ALAD):c.*1511T>C
|
rs745513769
|
0.00001
|
NM_000031.6(ALAD):c.*1631G>A
|
rs886063359
|
0.00001
|
NM_000031.6(ALAD):c.474C>G (p.Ala158=)
|
rs1340298448
|
0.00001
|
NM_000031.6(ALAD):c.521G>A (p.Arg174His)
|
rs750462706
|
0.00001
|
NM_000031.6(ALAD):c.897C>T (p.Ala299=)
|
rs370242589
|
0.00001
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
NM_000038.6(APC):c.1435T>A (p.Leu479Met)
|
rs780577693
|
0.00001
|
NM_000038.6(APC):c.1803G>C (p.Glu601Asp)
|
rs1447250546
|
0.00001
|
NM_000038.6(APC):c.1958+5A>G
|
rs762899641
|
0.00001
|
NM_000038.6(APC):c.2105G>A (p.Gly702Glu)
|
rs876658289
|
0.00001
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
0.00001
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
NM_000038.6(APC):c.3515A>T (p.His1172Leu)
|
rs1024630299
|
0.00001
|
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)
|
rs1479009365
|
0.00001
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe)
|
rs773178712
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5615T>A (p.Val1872Asp)
|
rs748389037
|
0.00001
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)
|
rs767691072
|
0.00001
|
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu)
|
rs750111908
|
0.00001
|
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)
|
rs367676584
|
0.00001
|
NM_000038.6(APC):c.811A>G (p.Met271Val)
|
rs587781464
|
0.00001
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)
|
rs757874563
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)
|
rs876660857
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000097.7(CPOX):c.*194G>T
|
rs886058946
|
0.00001
|
NM_000097.7(CPOX):c.*351A>G
|
rs1354893013
|
0.00001
|
NM_000097.7(CPOX):c.*516A>C
|
rs1402867317
|
0.00001
|
NM_000097.7(CPOX):c.*633A>C
|
rs886058942
|
0.00001
|
NM_000097.7(CPOX):c.-43G>C
|
rs763595872
|
0.00001
|
NM_000097.7(CPOX):c.-87C>T
|
rs908936882
|
0.00001
|
NM_000097.7(CPOX):c.348G>C (p.Pro116=)
|
rs140566686
|
0.00001
|
NM_000111.3(SLC26A3):c.*205G>C
|
rs886061896
|
0.00001
|
NM_000111.3(SLC26A3):c.*227A>G
|
rs1793899181
|
0.00001
|
NM_000111.3(SLC26A3):c.-169C>T
|
rs1794626377
|
0.00001
|
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala)
|
rs386833446
|
0.00001
|
NM_000111.3(SLC26A3):c.1865C>T (p.Thr622Ile)
|
rs765515301
|
0.00001
|
NM_000111.3(SLC26A3):c.510T>G (p.Asp170Glu)
|
rs886061904
|
0.00001
|
NM_000111.3(SLC26A3):c.736-9T>C
|
rs374479892
|
0.00001
|
NM_000115.5(EDNRB):c.-179C>T
|
rs1881861243
|
0.00001
|
NM_000130.5(F5):c.*1043T>A
|
rs991084730
|
0.00001
|
NM_000130.5(F5):c.*1613A>G
|
rs939304311
|
0.00001
|
NM_000130.5(F5):c.*390C>T
|
rs886045538
|
0.00001
|
NM_000130.5(F5):c.*872C>T
|
rs922113998
|
0.00001
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
NM_000130.5(F5):c.1659G>A (p.Glu553=)
|
rs370739570
|
0.00001
|
NM_000130.5(F5):c.276T>G (p.Ala92=)
|
rs769639191
|
0.00001
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln)
|
rs886045544
|
0.00001
|
NM_000130.5(F5):c.538G>A (p.Glu180Lys)
|
rs143152035
|
0.00001
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)
|
rs768425862
|
0.00001
|
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln)
|
rs886045542
|
0.00001
|
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)
|
rs775843029
|
0.00001
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
NM_000130.5(F5):c.6459T>C (p.Tyr2153=)
|
rs773618429
|
0.00001
|
NM_000130.5(F5):c.936C>T (p.Thr312=)
|
rs758832130
|
0.00001
|
NM_000140.5(FECH):c.*4237A>G
|
rs886053969
|
0.00001
|
NM_000140.5(FECH):c.*443A>C
|
rs886053994
|
0.00001
|
NM_000140.5(FECH):c.*55C>T
|
rs886053997
|
0.00001
|
NM_000140.5(FECH):c.1078-6A>G
|
rs2050796264
|
0.00001
|
NM_000140.5(FECH):c.912+14A>G
|
rs886053999
|
0.00001
|
NM_000140.5(FECH):c.935G>T (p.Gly312Val)
|
rs886053998
|
0.00001
|
NM_000141.5(FGFR2):c.*1369C>T
|
rs886046759
|
0.00001
|
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr)
|
rs769880096
|
0.00001
|
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)
|
rs748117555
|
0.00001
|
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)
|
rs962103382
|
0.00001
|
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)
|
rs774682374
|
0.00001
|
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu)
|
rs779326224
|
0.00001
|
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn)
|
rs370877537
|
0.00001
|
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)
|
rs770029887
|
0.00001
|
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)
|
rs772276122
|
0.00001
|
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)
|
rs533866031
|
0.00001
|
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)
|
rs369232922
|
0.00001
|
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)
|
rs369758941
|
0.00001
|
NM_000162.5(GCK):c.*723A>G
|
rs886062345
|
0.00001
|
NM_000162.5(GCK):c.-449G>A
|
rs1375544246
|
0.00001
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
NM_000162.5(GCK):c.1253+12C>T
|
rs768491249
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.35A>G (p.Lys12Arg)
|
rs777958777
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.580-11C>T
|
rs370016334
|
0.00001
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
NM_000162.5(GCK):c.824G>A (p.Arg275His)
|
rs767565869
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
NM_000179.3(MSH6):c.*11T>C
|
rs757708396
|
0.00001
|
NM_000179.3(MSH6):c.*1A>G
|
rs587781604
|
0.00001
|
NM_000179.3(MSH6):c.1047A>C (p.Gln349His)
|
rs876659112
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000179.3(MSH6):c.1117C>T (p.Leu373Phe)
|
rs1060502915
|
0.00001
|
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)
|
rs764150912
|
0.00001
|
NM_000179.3(MSH6):c.1146C>G (p.His382Gln)
|
rs1572721856
|
0.00001
|
NM_000179.3(MSH6):c.1163A>T (p.His388Leu)
|
rs786201185
|
0.00001
|
NM_000179.3(MSH6):c.1168G>T (p.Asp390Tyr)
|
rs147737737
|
0.00001
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1192G>A (p.Val398Met)
|
rs780350978
|
0.00001
|
NM_000179.3(MSH6):c.11A>G (p.Gln4Arg)
|
rs1572697725
|
0.00001
|
NM_000179.3(MSH6):c.1231A>T (p.Arg411Trp)
|
rs202219685
|
0.00001
|
NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr)
|
rs1207702287
|
0.00001
|
NM_000179.3(MSH6):c.133G>C (p.Gly45Arg)
|
rs978968846
|
0.00001
|
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)
|
rs863224616
|
0.00001
|
NM_000179.3(MSH6):c.1433A>G (p.Tyr478Cys)
|
rs1343978618
|
0.00001
|
NM_000179.3(MSH6):c.143C>T (p.Ala48Val)
|
rs876658278
|
0.00001
|
NM_000179.3(MSH6):c.1445G>A (p.Arg482Gln)
|
rs773226008
|
0.00001
|
NM_000179.3(MSH6):c.1457C>T (p.Thr486Ile)
|
rs577713548
|
0.00001
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
NM_000179.3(MSH6):c.1529G>A (p.Arg510Lys)
|
rs864622572
|
0.00001
|
NM_000179.3(MSH6):c.1535A>G (p.Glu512Gly)
|
rs1060502930
|
0.00001
|
NM_000179.3(MSH6):c.1563A>G (p.Thr521=)
|
rs1553412952
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.1567A>C (p.Thr523Pro)
|
rs759857124
|
0.00001
|
NM_000179.3(MSH6):c.1585G>A (p.Gly529Ser)
|
rs1457286684
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.1601A>C (p.Asn534Thr)
|
rs1572723598
|
0.00001
|
NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)
|
rs587782352
|
0.00001
|
NM_000179.3(MSH6):c.1610A>C (p.Lys537Thr)
|
rs1390820576
|
0.00001
|
NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)
|
rs1064793403
|
0.00001
|
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)
|
rs200447622
|
0.00001
|
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)
|
rs587779917
|
0.00001
|
NM_000179.3(MSH6):c.1655A>G (p.His552Arg)
|
rs1064793423
|
0.00001
|
NM_000179.3(MSH6):c.1673T>C (p.Val558Ala)
|
rs587782284
|
0.00001
|
NM_000179.3(MSH6):c.1678T>C (p.Phe560Leu)
|
rs863224617
|
0.00001
|
NM_000179.3(MSH6):c.1682T>C (p.Val561Ala)
|
rs1042131614
|
0.00001
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu)
|
rs587778529
|
0.00001
|
NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)
|
rs587779920
|
0.00001
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
NM_000179.3(MSH6):c.1902G>C (p.Leu634Phe)
|
rs1572724876
|
0.00001
|
NM_000179.3(MSH6):c.190G>A (p.Ala64Thr)
|
rs587779921
|
0.00001
|
NM_000179.3(MSH6):c.1970A>C (p.Gln657Pro)
|
rs1459883720
|
0.00001
|
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)
|
rs587778532
|
0.00001
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)
|
rs1361745058
|
0.00001
|
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp)
|
rs587779223
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.2030G>C (p.Ser677Thr)
|
rs587779224
|
0.00001
|
NM_000179.3(MSH6):c.203A>G (p.Lys68Arg)
|
rs863224620
|
0.00001
|
NM_000179.3(MSH6):c.2045C>G (p.Ser682Cys)
|
rs587779225
|
0.00001
|
NM_000179.3(MSH6):c.2071C>T (p.Leu691Phe)
|
rs765224443
|
0.00001
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met)
|
rs63750304
|
0.00001
|
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)
|
rs574358605
|
0.00001
|
NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)
|
rs869312798
|
0.00001
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
NM_000179.3(MSH6):c.2260A>T (p.Thr754Ser)
|
rs545057945
|
0.00001
|
NM_000179.3(MSH6):c.227T>C (p.Leu76Pro)
|
rs587780672
|
0.00001
|
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)
|
rs587779233
|
0.00001
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
NM_000179.3(MSH6):c.2317C>G (p.Leu773Val)
|
rs1064793871
|
0.00001
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
NM_000179.3(MSH6):c.2331G>T (p.Trp777Cys)
|
rs876660037
|
0.00001
|
NM_000179.3(MSH6):c.2339C>T (p.Ala780Val)
|
rs63749899
|
0.00001
|
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys)
|
rs864622425
|
0.00001
|
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)
|
rs773193199
|
0.00001
|
NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)
|
rs1558665293
|
0.00001
|
NM_000179.3(MSH6):c.2401G>A (p.Val801Met)
|
rs1265121267
|
0.00001
|
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)
|
rs1064793552
|
0.00001
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
NM_000179.3(MSH6):c.245C>T (p.Pro82Leu)
|
rs1190756871
|
0.00001
|
NM_000179.3(MSH6):c.2509C>T (p.His837Tyr)
|
rs777593472
|
0.00001
|
NM_000179.3(MSH6):c.2515G>C (p.Asp839His)
|
rs1553413868
|
0.00001
|
NM_000179.3(MSH6):c.2524G>C (p.Ala842Pro)
|
rs746143003
|
0.00001
|
NM_000179.3(MSH6):c.2527A>G (p.Ile843Val)
|
rs1060502922
|
0.00001
|
NM_000179.3(MSH6):c.2539G>A (p.Glu847Lys)
|
rs775625082
|
0.00001
|
NM_000179.3(MSH6):c.2546C>T (p.Thr849Ile)
|
rs1328434414
|
0.00001
|
NM_000179.3(MSH6):c.2549A>G (p.Tyr850Cys)
|
rs63750389
|
0.00001
|
NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)
|
rs370412074
|
0.00001
|
NM_000179.3(MSH6):c.2585T>A (p.Leu862Gln)
|
rs1553413932
|
0.00001
|
NM_000179.3(MSH6):c.2588A>G (p.Glu863Gly)
|
rs876658238
|
0.00001
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
NM_000179.3(MSH6):c.2605T>G (p.Cys869Gly)
|
rs768941857
|
0.00001
|
NM_000179.3(MSH6):c.2608A>G (p.Lys870Glu)
|
rs1310418564
|
0.00001
|
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)
|
rs730881797
|
0.00001
|
NM_000179.3(MSH6):c.2630A>G (p.Glu877Gly)
|
rs1060502873
|
0.00001
|
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)
|
rs1060502911
|
0.00001
|
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys)
|
rs1252374906
|
0.00001
|
NM_000179.3(MSH6):c.2651C>G (p.Ser884Cys)
|
rs561217424
|
0.00001
|
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)
|
rs587782593
|
0.00001
|
NM_000179.3(MSH6):c.2659C>G (p.Leu887Val)
|
rs1423320900
|
0.00001
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
NM_000179.3(MSH6):c.2695G>A (p.Glu899Lys)
|
rs748574765
|
0.00001
|
NM_000179.3(MSH6):c.2762C>T (p.Ala921Val)
|
rs1060502936
|
0.00001
|
NM_000179.3(MSH6):c.2781T>G (p.Ile927Met)
|
rs771575217
|
0.00001
|
NM_000179.3(MSH6):c.2808T>G (p.Asp936Glu)
|
rs771925410
|
0.00001
|
NM_000179.3(MSH6):c.2825C>T (p.Ala942Val)
|
rs760406178
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
NM_000179.3(MSH6):c.2845C>G (p.Gln949Glu)
|
rs878853724
|
0.00001
|
NM_000179.3(MSH6):c.2863C>G (p.Leu955Val)
|
rs1401779172
|
0.00001
|
NM_000179.3(MSH6):c.2876G>A (p.Arg959His)
|
rs757653982
|
0.00001
|
NM_000179.3(MSH6):c.2908T>C (p.Trp970Arg)
|
rs1410870321
|
0.00001
|
NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys)
|
rs765411990
|
0.00001
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)
|
rs780485157
|
0.00001
|
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)
|
rs587779927
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)
|
rs61753795
|
0.00001
|
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)
|
rs730881800
|
0.00001
|
NM_000179.3(MSH6):c.29T>G (p.Phe10Cys)
|
rs1668110702
|
0.00001
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp)
|
rs1060502943
|
0.00001
|
NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly)
|
rs63750287
|
0.00001
|
NM_000179.3(MSH6):c.3094T>G (p.Cys1032Gly)
|
rs1572730085
|
0.00001
|
NM_000179.3(MSH6):c.3107T>G (p.Leu1036Arg)
|
rs748211741
|
0.00001
|
NM_000179.3(MSH6):c.3112T>C (p.Tyr1038His)
|
rs1060502947
|
0.00001
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)
|
rs587781568
|
0.00001
|
NM_000179.3(MSH6):c.316T>C (p.Trp106Arg)
|
rs1410755308
|
0.00001
|
NM_000179.3(MSH6):c.3172+14C>T
|
rs762990595
|
0.00001
|
NM_000179.3(MSH6):c.3172+5G>T
|
rs876659857
|
0.00001
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)
|
rs587779257
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.3254C>A (p.Thr1085Asn)
|
rs761724581
|
0.00001
|
NM_000179.3(MSH6):c.325C>G (p.Leu109Val)
|
rs1064793870
|
0.00001
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
NM_000179.3(MSH6):c.3329C>G (p.Pro1110Arg)
|
rs1270167314
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
NM_000179.3(MSH6):c.3340C>G (p.Leu1114Val)
|
rs1064793520
|
0.00001
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
NM_000179.3(MSH6):c.3370A>C (p.Asn1124His)
|
rs1443258363
|
0.00001
|
NM_000179.3(MSH6):c.3379G>A (p.Ala1127Thr)
|
rs1060502880
|
0.00001
|
NM_000179.3(MSH6):c.3388G>C (p.Val1130Leu)
|
rs752164796
|
0.00001
|
NM_000179.3(MSH6):c.3424A>G (p.Thr1142Ala)
|
rs1572736148
|
0.00001
|
NM_000179.3(MSH6):c.3438+17G>C
|
rs759737239
|
0.00001
|
NM_000179.3(MSH6):c.3438+2dup
|
rs1114167778
|
0.00001
|
NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr)
|
rs770054790
|
0.00001
|
NM_000179.3(MSH6):c.3440C>T (p.Ala1147Val)
|
rs876659975
|
0.00001
|
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe)
|
rs876660151
|
0.00001
|
NM_000179.3(MSH6):c.3450A>T (p.Leu1150Phe)
|
rs762134820
|
0.00001
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
NM_000179.3(MSH6):c.3458T>C (p.Met1153Thr)
|
rs761160431
|
0.00001
|
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His)
|
rs766817979
|
0.00001
|
NM_000179.3(MSH6):c.3526A>G (p.Arg1176Gly)
|
rs786203968
|
0.00001
|
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)
|
rs748398941
|
0.00001
|
NM_000179.3(MSH6):c.3541G>A (p.Asp1181Asn)
|
rs762406364
|
0.00001
|
NM_000179.3(MSH6):c.3549A>G (p.Ile1183Met)
|
rs1453695821
|
0.00001
|
NM_000179.3(MSH6):c.3556+3G>T
|
rs1057521667
|
0.00001
|
NM_000179.3(MSH6):c.3556G>C (p.Gly1186Arg)
|
rs1060502909
|
0.00001
|
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)
|
rs150632241
|
0.00001
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala)
|
rs753778809
|
0.00001
|
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)
|
rs75095286
|
0.00001
|
NM_000179.3(MSH6):c.358A>G (p.Ile120Val)
|
rs146455343
|
0.00001
|
NM_000179.3(MSH6):c.3592G>A (p.Ala1198Thr)
|
rs1669962346
|
0.00001
|
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)
|
rs781627838
|
0.00001
|
NM_000179.3(MSH6):c.3601C>T (p.Leu1201Phe)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)
|
rs876660882
|
0.00001
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
NM_000179.3(MSH6):c.3634G>T (p.Val1212Leu)
|
rs864622748
|
0.00001
|
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)
|
rs587780677
|
0.00001
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
NM_000179.3(MSH6):c.3700G>C (p.Glu1234Gln)
|
rs35717727
|
0.00001
|
NM_000179.3(MSH6):c.371G>A (p.Gly124Glu)
|
rs1553410286
|
0.00001
|
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)
|
rs63750882
|
0.00001
|
NM_000179.3(MSH6):c.3744C>G (p.His1248Gln)
|
rs1670056970
|
0.00001
|
NM_000179.3(MSH6):c.3749A>G (p.His1250Arg)
|
rs749129928
|
0.00001
|
NM_000179.3(MSH6):c.3767A>C (p.Tyr1256Ser)
|
rs761643896
|
0.00001
|
NM_000179.3(MSH6):c.3796C>T (p.His1266Tyr)
|
rs972387746
|
0.00001
|
NM_000179.3(MSH6):c.379G>A (p.Val127Ile)
|
rs1553410307
|
0.00001
|
NM_000179.3(MSH6):c.3806G>C (p.Cys1269Ser)
|
rs876658276
|
0.00001
|
NM_000179.3(MSH6):c.3837C>G (p.Ser1279Arg)
|
rs876661245
|
0.00001
|
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)
|
rs876659115
|
0.00001
|
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)
|
rs144714869
|
0.00001
|
NM_000179.3(MSH6):c.3853T>C (p.Phe1285Leu)
|
rs1369714474
|
0.00001
|
NM_000179.3(MSH6):c.3854T>C (p.Phe1285Ser)
|
rs1553333453
|
0.00001
|
NM_000179.3(MSH6):c.3857T>C (p.Leu1286Pro)
|
rs754443325
|
0.00001
|
NM_000179.3(MSH6):c.3884C>G (p.Pro1295Arg)
|
rs758181932
|
0.00001
|
NM_000179.3(MSH6):c.3884C>T (p.Pro1295Leu)
|
rs758181932
|
0.00001
|
NM_000179.3(MSH6):c.388C>T (p.His130Tyr)
|
rs1668697036
|
0.00001
|
NM_000179.3(MSH6):c.3901A>G (p.Asn1301Asp)
|
rs1184905732
|
0.00001
|
NM_000179.3(MSH6):c.3913C>T (p.Leu1305Phe)
|
rs1670120604
|
0.00001
|
NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)
|
rs1194990135
|
0.00001
|
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)
|
rs759092293
|
0.00001
|
NM_000179.3(MSH6):c.3966A>T (p.Glu1322Asp)
|
rs1064794745
|
0.00001
|
NM_000179.3(MSH6):c.396G>C (p.Gln132His)
|
rs864622216
|
0.00001
|
NM_000179.3(MSH6):c.3983A>G (p.Gln1328Arg)
|
rs587779940
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.4016_4017dup (p.Ser1340fs)
|
rs876661127
|
0.00001
|
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)
|
rs730881809
|
0.00001
|
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)
|
rs1449733937
|
0.00001
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
NM_000179.3(MSH6):c.4064C>G (p.Thr1355Ser)
|
rs863224627
|
0.00001
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
NM_000179.3(MSH6):c.4070T>A (p.Ile1357Asn)
|
rs1209834047
|
0.00001
|
NM_000179.3(MSH6):c.4081T>C (p.Ter1361Gln)
|
rs765098678
|
0.00001
|
NM_000179.3(MSH6):c.40T>G (p.Ser14Ala)
|
rs876660417
|
0.00001
|
NM_000179.3(MSH6):c.44C>T (p.Pro15Leu)
|
rs869312800
|
0.00001
|
NM_000179.3(MSH6):c.458-13C>G
|
rs1057522695
|
0.00001
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)
|
rs774162322
|
0.00001
|
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)
|
rs863224629
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.544G>A (p.Ala182Thr)
|
rs1441208044
|
0.00001
|
NM_000179.3(MSH6):c.556G>A (p.Asp186Asn)
|
rs1212607928
|
0.00001
|
NM_000179.3(MSH6):c.595C>G (p.Pro199Ala)
|
rs1475759670
|
0.00001
|
NM_000179.3(MSH6):c.624G>A (p.Met208Ile)
|
rs1060502878
|
0.00001
|
NM_000179.3(MSH6):c.628-3C>T
|
rs3136332
|
0.00001
|
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)
|
rs876659071
|
0.00001
|
NM_000179.3(MSH6):c.668A>G (p.Asn223Ser)
|
rs587779316
|
0.00001
|
NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)
|
rs730881810
|
0.00001
|
NM_000179.3(MSH6):c.708A>T (p.Gln236His)
|
rs1322117538
|
0.00001
|
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)
|
rs587782510
|
0.00001
|
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)
|
rs377216828
|
0.00001
|
NM_000179.3(MSH6):c.737A>G (p.Lys246Arg)
|
rs1297205425
|
0.00001
|
NM_000179.3(MSH6):c.761C>T (p.Ser254Phe)
|
rs876659191
|
0.00001
|
NM_000179.3(MSH6):c.784G>A (p.Asp262Asn)
|
rs1572720344
|
0.00001
|
NM_000179.3(MSH6):c.851A>T (p.Asp284Val)
|
rs1285950430
|
0.00001
|
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)
|
rs63750878
|
0.00001
|
NM_000179.3(MSH6):c.856G>A (p.Glu286Lys)
|
rs1057520605
|
0.00001
|
NM_000179.3(MSH6):c.873C>G (p.Asn291Lys)
|
rs876660529
|
0.00001
|
NM_000179.3(MSH6):c.875G>C (p.Ser292Thr)
|
rs587781389
|
0.00001
|
NM_000179.3(MSH6):c.88G>C (p.Glu30Gln)
|
rs1445690889
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000179.3(MSH6):c.910G>A (p.Val304Met)
|
rs876661207
|
0.00001
|
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)
|
rs760100983
|
0.00001
|
NM_000179.3(MSH6):c.941G>C (p.Ser314Thr)
|
rs760100983
|
0.00001
|
NM_000179.3(MSH6):c.965C>A (p.Ala322Asp)
|
rs1253844411
|
0.00001
|
NM_000179.3(MSH6):c.973C>G (p.Gln325Glu)
|
rs1553412397
|
0.00001
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
NM_000179.3(MSH6):c.98G>C (p.Arg33Pro)
|
rs878853751
|
0.00001
|
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)
|
rs886056143
|
0.00001
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
NM_000190.4(HMBS):c.*194A>G
|
rs886047756
|
0.00001
|
NM_000190.4(HMBS):c.345-9C>T
|
rs772934410
|
0.00001
|
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln)
|
rs1165046276
|
0.00001
|
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)
|
rs118204113
|
0.00001
|
NM_000190.4(HMBS):c.768C>A (p.His256Gln)
|
rs758794172
|
0.00001
|
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr)
|
rs1057519252
|
0.00001
|
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser)
|
rs772616498
|
0.00001
|
NM_000193.4(SHH):c.86G>C (p.Gly29Ala)
|
rs1313527438
|
0.00001
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
NM_000208.4(INSR):c.*2405A>T
|
rs886054669
|
0.00001
|
NM_000208.4(INSR):c.*2517A>G
|
rs886054668
|
0.00001
|
NM_000208.4(INSR):c.*442G>T
|
rs1325974020
|
0.00001
|
NM_000208.4(INSR):c.*926_*927insG
|
rs886054676
|
0.00001
|
NM_000208.4(INSR):c.1056G>A (p.Thr352=)
|
rs765176874
|
0.00001
|
NM_000208.4(INSR):c.14G>A (p.Gly5Asp)
|
rs886054690
|
0.00001
|
NM_000208.4(INSR):c.2268-3C>T
|
rs750201666
|
0.00001
|
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln)
|
rs1460294044
|
0.00001
|
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys)
|
rs376600434
|
0.00001
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
NM_000208.4(INSR):c.2543-13C>T
|
rs1187901881
|
0.00001
|
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp)
|
rs201667363
|
0.00001
|
NM_000208.4(INSR):c.3383G>A (p.Arg1128His)
|
rs202160383
|
0.00001
|
NM_000208.4(INSR):c.3501C>T (p.Val1167=)
|
rs373794054
|
0.00001
|
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser)
|
rs377701938
|
0.00001
|
NM_000208.4(INSR):c.474C>T (p.Ile158=)
|
rs752803584
|
0.00001
|
NM_000208.4(INSR):c.624A>G (p.Arg208=)
|
rs759705666
|
0.00001
|
NM_000208.4(INSR):c.756C>T (p.Cys252=)
|
rs769511771
|
0.00001
|
NM_000209.4(PDX1):c.208G>A (p.Val70Met)
|
rs1234749777
|
0.00001
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln)
|
rs1600185499
|
0.00001
|
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe)
|
rs1235681626
|
0.00001
|
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu)
|
rs1568807505
|
0.00001
|
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met)
|
rs773039210
|
0.00001
|
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)
|
rs755648887
|
0.00001
|
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys)
|
rs1465136716
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
|
rs558315798
|
0.00001
|
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp)
|
rs753841056
|
0.00001
|
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser)
|
rs1221893646
|
0.00001
|
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys)
|
rs748384232
|
0.00001
|
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile)
|
rs770729371
|
0.00001
|
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala)
|
rs752105789
|
0.00001
|
NM_000214.3(JAG1):c.2114G>A (p.Arg705His)
|
rs1320720578
|
0.00001
|
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser)
|
rs765705984
|
0.00001
|
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr)
|
rs1314917198
|
0.00001
|
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg)
|
rs2067296582
|
0.00001
|
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln)
|
rs774372899
|
0.00001
|
NM_000214.3(JAG1):c.2506G>A (p.Val836Met)
|
rs1429547453
|
0.00001
|
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser)
|
rs1568792705
|
0.00001
|
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
|
rs111706668
|
0.00001
|
NM_000214.3(JAG1):c.2723A>G (p.His908Arg)
|
rs150243935
|
0.00001
|
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val)
|
rs747802983
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)
|
rs747142039
|
0.00001
|
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp)
|
rs1057516205
|
0.00001
|
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)
|
rs768823146
|
0.00001
|
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
|
rs537986153
|
0.00001
|
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
|
rs2067258057
|
0.00001
|
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu)
|
rs1788979891
|
0.00001
|
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe)
|
rs142294152
|
0.00001
|
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys)
|
rs1362853052
|
0.00001
|
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)
|
rs1268561604
|
0.00001
|
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met)
|
rs533237399
|
0.00001
|
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)
|
rs1051571820
|
0.00001
|
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala)
|
rs766368457
|
0.00001
|
NM_000214.3(JAG1):c.387G>A (p.Pro129=)
|
rs766008628
|
0.00001
|
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys)
|
rs1409103181
|
0.00001
|
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)
|
rs1456733889
|
0.00001
|
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly)
|
rs984916696
|
0.00001
|
NM_000214.3(JAG1):c.694+3A>G
|
rs769581869
|
0.00001
|
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg)
|
rs1405610551
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
0.00001
|
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
|
rs1412480153
|
0.00001
|
NM_000214.3(JAG1):c.978G>A (p.Glu326=)
|
rs1480738447
|
0.00001
|
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp)
|
rs562158374
|
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.1035C>G (p.His345Gln)
|
rs1446098264
|
0.00001
|
NM_000222.3(KIT):c.1056C>G (p.Asn352Lys)
|
rs372759291
|
0.00001
|
NM_000222.3(KIT):c.1066A>G (p.Thr356Ala)
|
rs915272994
|
0.00001
|
NM_000222.3(KIT):c.1135C>A (p.Leu379Ile)
|
rs376275305
|
0.00001
|
NM_000222.3(KIT):c.1153A>G (p.Thr385Ala)
|
rs776734905
|
0.00001
|
NM_000222.3(KIT):c.115A>G (p.Ile39Val)
|
rs1298190443
|
0.00001
|
NM_000222.3(KIT):c.1171A>G (p.Thr391Ala)
|
rs757234342
|
0.00001
|
NM_000222.3(KIT):c.1181T>C (p.Val394Ala)
|
rs1553889094
|
0.00001
|
NM_000222.3(KIT):c.119A>G (p.His40Arg)
|
rs373374682
|
0.00001
|
NM_000222.3(KIT):c.11C>T (p.Ala4Val)
|
rs1423062466
|
0.00001
|
NM_000222.3(KIT):c.1210G>A (p.Ala404Thr)
|
rs1272269119
|
0.00001
|
NM_000222.3(KIT):c.1229A>C (p.Asn410Thr)
|
rs1213469406
|
0.00001
|
NM_000222.3(KIT):c.1255G>A (p.Asp419Asn)
|
rs752354428
|
0.00001
|
NM_000222.3(KIT):c.1255G>T (p.Asp419Tyr)
|
rs752354428
|
0.00001
|
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)
|
rs878853760
|
0.00001
|
NM_000222.3(KIT):c.1276C>G (p.Leu426Val)
|
rs758061831
|
0.00001
|
NM_000222.3(KIT):c.127A>G (p.Lys43Glu)
|
rs770727656
|
0.00001
|
NM_000222.3(KIT):c.1281A>T (p.Gln427His)
|
rs376889675
|
0.00001
|
NM_000222.3(KIT):c.1312A>G (p.Ile438Val)
|
rs780382854
|
0.00001
|
NM_000222.3(KIT):c.1346+6A>G
|
rs893710756
|
0.00001
|
NM_000222.3(KIT):c.135C>A (p.Asp45Glu)
|
rs1060502551
|
0.00001
|
NM_000222.3(KIT):c.1372G>A (p.Asp458Asn)
|
rs1722185166
|
0.00001
|
NM_000222.3(KIT):c.1408G>A (p.Gly470Arg)
|
rs749914029
|
0.00001
|
NM_000222.3(KIT):c.140T>C (p.Ile47Thr)
|
rs776395578
|
0.00001
|
NM_000222.3(KIT):c.1432A>G (p.Ile478Val)
|
rs1185109256
|
0.00001
|
NM_000222.3(KIT):c.1438T>G (p.Ser480Ala)
|
rs1417993831
|
0.00001
|
NM_000222.3(KIT):c.1444G>A (p.Ala482Thr)
|
rs1060502569
|
0.00001
|
NM_000222.3(KIT):c.145C>T (p.Arg49Cys)
|
rs759250095
|
0.00001
|
NM_000222.3(KIT):c.1463C>T (p.Thr488Met)
|
rs56225530
|
0.00001
|
NM_000222.3(KIT):c.1489G>T (p.Val497Leu)
|
rs1439977705
|
0.00001
|
NM_000222.3(KIT):c.152G>A (p.Gly51Asp)
|
rs1404387908
|
0.00001
|
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)
|
rs569408054
|
0.00001
|
NM_000222.3(KIT):c.1557C>A (p.His519Gln)
|
rs1722281042
|
0.00001
|
NM_000222.3(KIT):c.157G>A (p.Glu53Lys)
|
rs780349712
|
0.00001
|
NM_000222.3(KIT):c.1581T>G (p.Ile527Met)
|
rs994448695
|
0.00001
|
NM_000222.3(KIT):c.1583G>A (p.Gly528Asp)
|
rs1226259110
|
0.00001
|
NM_000222.3(KIT):c.1616T>C (p.Ile539Thr)
|
rs781371383
|
0.00001
|
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)
|
rs756179543
|
0.00001
|
NM_000222.3(KIT):c.1647+6C>A
|
rs1321589360
|
0.00001
|
NM_000222.3(KIT):c.1654A>G (p.Met552Val)
|
rs777596975
|
0.00001
|
NM_000222.3(KIT):c.1656G>A (p.Met552Ile)
|
rs1482011071
|
0.00001
|
NM_000222.3(KIT):c.1690A>T (p.Asn564Tyr)
|
rs745463319
|
0.00001
|
NM_000222.3(KIT):c.1711A>G (p.Ile571Val)
|
rs587778431
|
0.00001
|
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile)
|
rs375351432
|
0.00001
|
NM_000222.3(KIT):c.1789G>A (p.Ala597Thr)
|
rs768214921
|
0.00001
|
NM_000222.3(KIT):c.1835T>C (p.Ile612Thr)
|
rs1322867456
|
0.00001
|
NM_000222.3(KIT):c.1847C>T (p.Ala616Val)
|
rs891140054
|
0.00001
|
NM_000222.3(KIT):c.1854G>A (p.Met618Ile)
|
rs199787524
|
0.00001
|
NM_000222.3(KIT):c.1889A>G (p.His630Arg)
|
rs373554876
|
0.00001
|
NM_000222.3(KIT):c.1900C>G (p.Arg634Gly)
|
rs144369407
|
0.00001
|
NM_000222.3(KIT):c.1901G>A (p.Arg634Gln)
|
rs766264502
|
0.00001
|
NM_000222.3(KIT):c.1912A>G (p.Met638Val)
|
rs1177837541
|
0.00001
|
NM_000222.3(KIT):c.1951A>T (p.Met651Leu)
|
rs534209826
|
0.00001
|
NM_000222.3(KIT):c.1964A>G (p.Asn655Ser)
|
rs1057519707
|
0.00001
|
NM_000222.3(KIT):c.1985T>C (p.Ile662Thr)
|
rs1199902129
|
0.00001
|
NM_000222.3(KIT):c.1991-3T>C
|
rs768551420
|
0.00001
|
NM_000222.3(KIT):c.2062T>A (p.Ser688Thr)
|
rs752130583
|
0.00001
|
NM_000222.3(KIT):c.2068A>G (p.Ile690Val)
|
rs924104591
|
0.00001
|
NM_000222.3(KIT):c.2072G>C (p.Cys691Ser)
|
rs35200131
|
0.00001
|
NM_000222.3(KIT):c.2090A>C (p.His697Pro)
|
rs1414253704
|
0.00001
|
NM_000222.3(KIT):c.2105T>C (p.Leu702Pro)
|
rs541585774
|
0.00001
|
NM_000222.3(KIT):c.2107T>C (p.Tyr703His)
|
rs746990067
|
0.00001
|
NM_000222.3(KIT):c.2108A>G (p.Tyr703Cys)
|
rs771012963
|
0.00001
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
NM_000222.3(KIT):c.2122C>T (p.His708Tyr)
|
rs146337870
|
0.00001
|
NM_000222.3(KIT):c.2131G>C (p.Glu711Gln)
|
rs1060502544
|
0.00001
|
NM_000222.3(KIT):c.2138C>A (p.Ser713Tyr)
|
rs775274159
|
0.00001
|
NM_000222.3(KIT):c.2144G>A (p.Ser715Asn)
|
rs56094246
|
0.00001
|
NM_000222.3(KIT):c.214G>T (p.Asp72Tyr)
|
rs1210962059
|
0.00001
|
NM_000222.3(KIT):c.2185T>G (p.Ser729Ala)
|
rs773953640
|
0.00001
|
NM_000222.3(KIT):c.2198C>T (p.Pro733Leu)
|
rs992027457
|
0.00001
|
NM_000222.3(KIT):c.2209G>A (p.Asp737Asn)
|
rs751005114
|
0.00001
|
NM_000222.3(KIT):c.2213A>G (p.Lys738Arg)
|
rs1578000525
|
0.00001
|
NM_000222.3(KIT):c.2224G>A (p.Val742Met)
|
rs1303414810
|
0.00001
|
NM_000222.3(KIT):c.2243T>C (p.Ile748Thr)
|
rs572852980
|
0.00001
|
NM_000222.3(KIT):c.2264C>T (p.Ala755Val)
|
rs758252647
|
0.00001
|
NM_000222.3(KIT):c.2270T>C (p.Met757Thr)
|
rs1264359120
|
0.00001
|
NM_000222.3(KIT):c.2273A>G (p.Glu758Gly)
|
rs749166896
|
0.00001
|
NM_000222.3(KIT):c.2275G>T (p.Asp759Tyr)
|
rs754826149
|
0.00001
|
NM_000222.3(KIT):c.2281G>A (p.Glu761Lys)
|
rs746503007
|
0.00001
|
NM_000222.3(KIT):c.2350G>A (p.Ala784Thr)
|
rs1309976246
|
0.00001
|
NM_000222.3(KIT):c.2354C>G (p.Ser785Cys)
|
rs1722629110
|
0.00001
|
NM_000222.3(KIT):c.2358G>T (p.Lys786Asn)
|
rs202144208
|
0.00001
|
NM_000222.3(KIT):c.2362-3T>C
|
rs767542887
|
0.00001
|
NM_000222.3(KIT):c.2384C>G (p.Ala795Gly)
|
rs760704637
|
0.00001
|
NM_000222.3(KIT):c.2410C>T (p.Arg804Trp)
|
rs145602440
|
0.00001
|
NM_000222.3(KIT):c.2411G>A (p.Arg804Gln)
|
rs777616126
|
0.00001
|
NM_000222.3(KIT):c.2473G>A (p.Val825Ile)
|
rs878853765
|
0.00001
|
NM_000222.3(KIT):c.2519G>A (p.Ser840Asn)
|
rs766430859
|
0.00001
|
NM_000222.3(KIT):c.2555T>C (p.Val852Ala)
|
rs780998847
|
0.00001
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
NM_000222.3(KIT):c.2597-5C>G
|
rs1348501567
|
0.00001
|
NM_000222.3(KIT):c.25G>A (p.Asp9Asn)
|
rs1476871700
|
0.00001
|
NM_000222.3(KIT):c.2601C>G (p.Ser867Arg)
|
rs143074839
|
0.00001
|
NM_000222.3(KIT):c.2612C>G (p.Pro871Arg)
|
rs755797225
|
0.00001
|
NM_000222.3(KIT):c.2617A>T (p.Met873Leu)
|
rs1404045332
|
0.00001
|
NM_000222.3(KIT):c.2621C>T (p.Pro874Leu)
|
rs753419764
|
0.00001
|
NM_000222.3(KIT):c.2642A>G (p.Lys881Arg)
|
rs1244026726
|
0.00001
|
NM_000222.3(KIT):c.2652G>T (p.Lys884Asn)
|
rs374440815
|
0.00001
|
NM_000222.3(KIT):c.2662C>T (p.Arg888Trp)
|
rs1237984655
|
0.00001
|
NM_000222.3(KIT):c.2668C>T (p.Leu890Phe)
|
rs1722945534
|
0.00001
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
NM_000222.3(KIT):c.2674C>T (p.Pro892Ser)
|
rs1280110686
|
0.00001
|
NM_000222.3(KIT):c.2680C>T (p.His894Tyr)
|
rs141126803
|
0.00001
|
NM_000222.3(KIT):c.2689G>A (p.Ala897Thr)
|
rs1250080954
|
0.00001
|
NM_000222.3(KIT):c.2692G>A (p.Glu898Lys)
|
rs1722948356
|
0.00001
|
NM_000222.3(KIT):c.2696T>C (p.Met899Thr)
|
rs1307420759
|
0.00001
|
NM_000222.3(KIT):c.2704A>G (p.Ile902Val)
|
rs1435319685
|
0.00001
|
NM_000222.3(KIT):c.2717G>C (p.Cys906Ser)
|
rs1429130851
|
0.00001
|
NM_000222.3(KIT):c.2746A>G (p.Thr916Ala)
|
rs1453023259
|
0.00001
|
NM_000222.3(KIT):c.2757A>T (p.Gln919His)
|
rs770617877
|
0.00001
|
NM_000222.3(KIT):c.2803-10T>A
|
rs1381666034
|
0.00001
|
NM_000222.3(KIT):c.2806T>C (p.Tyr936His)
|
rs1304063923
|
0.00001
|
NM_000222.3(KIT):c.281A>G (p.Lys94Arg)
|
rs904550523
|
0.00001
|
NM_000222.3(KIT):c.2827A>G (p.Ser943Gly)
|
rs756463331
|
0.00001
|
NM_000222.3(KIT):c.2834A>G (p.Asn945Ser)
|
rs754097617
|
0.00001
|
NM_000222.3(KIT):c.2837G>A (p.Arg946Gln)
|
rs779103998
|
0.00001
|
NM_000222.3(KIT):c.2848G>A (p.Val950Met)
|
rs146374006
|
0.00001
|
NM_000222.3(KIT):c.2851G>A (p.Val951Ile)
|
rs745651409
|
0.00001
|
NM_000222.3(KIT):c.2858A>G (p.His953Arg)
|
rs1723056214
|
0.00001
|
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)
|
rs1060502568
|
0.00001
|
NM_000222.3(KIT):c.2869A>G (p.Ile957Val)
|
rs748938919
|
0.00001
|
NM_000222.3(KIT):c.2873A>G (p.Asn958Ser)
|
rs1060502563
|
0.00001
|
NM_000222.3(KIT):c.2882G>A (p.Gly961Asp)
|
rs1334133798
|
0.00001
|
NM_000222.3(KIT):c.2897C>A (p.Ser966Tyr)
|
rs765503364
|
0.00001
|
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)
|
rs1232060384
|
0.00001
|
NM_000222.3(KIT):c.2926G>A (p.Val976Ile)
|
rs773955363
|
0.00001
|
NM_000222.3(KIT):c.292A>T (p.Thr98Ser)
|
rs1060502567
|
0.00001
|
NM_000222.3(KIT):c.293C>A (p.Thr98Asn)
|
rs1577953102
|
0.00001
|
NM_000222.3(KIT):c.301C>T (p.His101Tyr)
|
rs781130745
|
0.00001
|
NM_000222.3(KIT):c.317C>T (p.Ser106Phe)
|
rs779652404
|
0.00001
|
NM_000222.3(KIT):c.338-5T>G
|
rs1381007585
|
0.00001
|
NM_000222.3(KIT):c.388A>G (p.Asn130Asp)
|
rs764213036
|
0.00001
|
NM_000222.3(KIT):c.395C>T (p.Thr132Met)
|
rs766253584
|
0.00001
|
NM_000222.3(KIT):c.403C>T (p.Arg135Cys)
|
rs754738766
|
0.00001
|
NM_000222.3(KIT):c.454C>G (p.Gln152Glu)
|
rs145053429
|
0.00001
|
NM_000222.3(KIT):c.508A>G (p.Ile170Val)
|
rs1394659716
|
0.00001
|
NM_000222.3(KIT):c.577A>C (p.Lys193Gln)
|
rs1451394869
|
0.00001
|
NM_000222.3(KIT):c.59T>G (p.Val20Gly)
|
rs1393581394
|
0.00001
|
NM_000222.3(KIT):c.601A>G (p.Ile201Val)
|
rs1019588542
|
0.00001
|
NM_000222.3(KIT):c.640G>A (p.Val214Met)
|
rs775569383
|
0.00001
|
NM_000222.3(KIT):c.65C>T (p.Thr22Ile)
|
rs769943127
|
0.00001
|
NM_000222.3(KIT):c.707A>C (p.Lys236Thr)
|
rs374957554
|
0.00001
|
NM_000222.3(KIT):c.733A>G (p.Thr245Ala)
|
rs754400702
|
0.00001
|
NM_000222.3(KIT):c.746A>G (p.Glu249Gly)
|
rs1060502571
|
0.00001
|
NM_000222.3(KIT):c.758C>A (p.Thr253Asn)
|
rs1275578060
|
0.00001
|
NM_000222.3(KIT):c.794G>C (p.Gly265Ala)
|
rs1450761446
|
0.00001
|
NM_000222.3(KIT):c.844G>A (p.Val282Ile)
|
rs771961192
|
0.00001
|
NM_000222.3(KIT):c.86T>A (p.Val29Glu)
|
rs864622699
|
0.00001
|
NM_000222.3(KIT):c.916G>A (p.Glu306Lys)
|
rs753258292
|
0.00001
|
NM_000222.3(KIT):c.925+15G>A
|
rs751941239
|
0.00001
|
NM_000222.3(KIT):c.932G>C (p.Gly311Ala)
|
rs1255809965
|
0.00001
|
NM_000222.3(KIT):c.954G>A (p.Met318Ile)
|
rs769399180
|
0.00001
|
NM_000222.3(KIT):c.957A>G (p.Ile319Met)
|
rs377102206
|
0.00001
|
NM_000222.3(KIT):c.95G>A (p.Gly32Glu)
|
rs1719999027
|
0.00001
|
NM_000222.3(KIT):c.964A>G (p.Thr322Ala)
|
rs147540142
|
0.00001
|
NM_000222.3(KIT):c.967G>A (p.Val323Ile)
|
rs1060502539
|
0.00001
|
NM_000222.3(KIT):c.973G>A (p.Val325Ile)
|
rs1278847358
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
NM_000249.3(MLH1):c.-114T>C
|
rs886058380
|
0.00001
|
NM_000249.4(MLH1):c.*121A>G
|
rs766562208
|
0.00001
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
NM_000249.4(MLH1):c.-22C>T
|
rs771060933
|
0.00001
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
NM_000249.4(MLH1):c.1019C>T (p.Ser340Phe)
|
rs191257018
|
0.00001
|
NM_000249.4(MLH1):c.1034C>T (p.Thr345Ile)
|
rs750980386
|
0.00001
|
NM_000249.4(MLH1):c.1038+15C>T
|
rs886058382
|
0.00001
|
NM_000249.4(MLH1):c.1043T>C (p.Leu348Ser)
|
rs755401753
|
0.00001
|
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)
|
rs752962453
|
0.00001
|
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)
|
rs756347993
|
0.00001
|
NM_000249.4(MLH1):c.1076T>C (p.Met359Thr)
|
rs779917781
|
0.00001
|
NM_000249.4(MLH1):c.107T>C (p.Ile36Thr)
|
rs267607707
|
0.00001
|
NM_000249.4(MLH1):c.1090A>G (p.Thr364Ala)
|
rs63749864
|
0.00001
|
NM_000249.4(MLH1):c.1100C>A (p.Thr367Asn)
|
rs776402584
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000249.4(MLH1):c.1111A>G (p.Thr371Ala)
|
rs762426947
|
0.00001
|
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)
|
rs774878513
|
0.00001
|
NM_000249.4(MLH1):c.111G>C (p.Glu37Asp)
|
rs864622485
|
0.00001
|
NM_000249.4(MLH1):c.1135T>C (p.Tyr379His)
|
rs1464558556
|
0.00001
|
NM_000249.4(MLH1):c.1139C>T (p.Ala380Val)
|
rs867554226
|
0.00001
|
NM_000249.4(MLH1):c.1141C>T (p.His381Tyr)
|
rs63750557
|
0.00001
|
NM_000249.4(MLH1):c.1146G>C (p.Gln382His)
|
rs876658801
|
0.00001
|
NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)
|
rs757350157
|
0.00001
|
NM_000249.4(MLH1):c.1157C>T (p.Thr386Ile)
|
rs1443882824
|
0.00001
|
NM_000249.4(MLH1):c.116+14C>G
|
rs773103242
|
0.00001
|
NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg)
|
rs587780678
|
0.00001
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser)
|
rs587778897
|
0.00001
|
NM_000249.4(MLH1):c.1208C>G (p.Pro403Arg)
|
rs1311368931
|
0.00001
|
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)
|
rs864622687
|
0.00001
|
NM_000249.4(MLH1):c.1226A>G (p.Gln409Arg)
|
rs104895000
|
0.00001
|
NM_000249.4(MLH1):c.1236C>T (p.Val412=)
|
rs369576099
|
0.00001
|
NM_000249.4(MLH1):c.1238C>T (p.Thr413Ile)
|
rs63750766
|
0.00001
|
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)
|
rs373767220
|
0.00001
|
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu)
|
rs750563193
|
0.00001
|
NM_000249.4(MLH1):c.1252G>A (p.Asp418Asn)
|
rs1355987936
|
0.00001
|
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly)
|
rs755898663
|
0.00001
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
NM_000249.4(MLH1):c.1293G>A (p.Met431Ile)
|
rs776044212
|
0.00001
|
NM_000249.4(MLH1):c.1295T>A (p.Leu432His)
|
rs761070985
|
0.00001
|
NM_000249.4(MLH1):c.1297G>C (p.Glu433Gln)
|
rs63750443
|
0.00001
|
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)
|
rs34213726
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.1354A>G (p.Thr452Ala)
|
rs34285587
|
0.00001
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
NM_000249.4(MLH1):c.1370A>T (p.Glu457Val)
|
rs786203236
|
0.00001
|
NM_000249.4(MLH1):c.1400G>A (p.Ser467Asn)
|
rs771610811
|
0.00001
|
NM_000249.4(MLH1):c.1409+3A>G
|
rs780517601
|
0.00001
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
NM_000249.4(MLH1):c.1417C>T (p.His473Tyr)
|
rs924092154
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.1432G>T (p.Asp478Tyr)
|
rs771282761
|
0.00001
|
NM_000249.4(MLH1):c.1442T>C (p.Met481Thr)
|
rs1575552305
|
0.00001
|
NM_000249.4(MLH1):c.144A>C (p.Gln48His)
|
rs147342421
|
0.00001
|
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)
|
rs876659795
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.1468A>G (p.Met490Val)
|
rs776671941
|
0.00001
|
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met)
|
rs887474856
|
0.00001
|
NM_000249.4(MLH1):c.1521G>C (p.Leu507Phe)
|
rs863224633
|
0.00001
|
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)
|
rs876658689
|
0.00001
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
NM_000249.4(MLH1):c.1553A>G (p.His518Arg)
|
rs1182262731
|
0.00001
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
NM_000249.4(MLH1):c.157G>A (p.Glu53Lys)
|
rs63751199
|
0.00001
|
NM_000249.4(MLH1):c.1591G>A (p.Val531Met)
|
rs764663152
|
0.00001
|
NM_000249.4(MLH1):c.160G>A (p.Gly54Arg)
|
rs1315572872
|
0.00001
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
NM_000249.4(MLH1):c.1640T>C (p.Leu547Ser)
|
rs63750300
|
0.00001
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
NM_000249.4(MLH1):c.1669G>A (p.Glu557Lys)
|
rs63751244
|
0.00001
|
NM_000249.4(MLH1):c.1670A>G (p.Glu557Gly)
|
rs1235304501
|
0.00001
|
NM_000249.4(MLH1):c.1675C>A (p.Leu559Met)
|
rs780221881
|
0.00001
|
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)
|
rs1289807424
|
0.00001
|
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)
|
rs63750062
|
0.00001
|
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)
|
rs876658915
|
0.00001
|
NM_000249.4(MLH1):c.1715G>A (p.Gly572Asp)
|
rs781178304
|
0.00001
|
NM_000249.4(MLH1):c.1724G>C (p.Arg575Thr)
|
rs748185540
|
0.00001
|
NM_000249.4(MLH1):c.1732G>A (p.Glu578Lys)
|
rs863224635
|
0.00001
|
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)
|
rs63751713
|
0.00001
|
NM_000249.4(MLH1):c.1760T>C (p.Met587Thr)
|
rs587778945
|
0.00001
|
NM_000249.4(MLH1):c.1761G>A (p.Met587Ile)
|
rs747665234
|
0.00001
|
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)
|
rs769239969
|
0.00001
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
NM_000249.4(MLH1):c.1817G>C (p.Gly606Ala)
|
rs1355248187
|
0.00001
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
NM_000249.4(MLH1):c.1842T>G (p.Phe614Leu)
|
rs758353338
|
0.00001
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
NM_000249.4(MLH1):c.1856C>A (p.Ala619Asp)
|
rs747708787
|
0.00001
|
NM_000249.4(MLH1):c.1862T>A (p.Met621Lys)
|
rs1559588530
|
0.00001
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
NM_000249.4(MLH1):c.1896+17T>C
|
rs193922368
|
0.00001
|
NM_000249.4(MLH1):c.1896+3G>A
|
rs1060500695
|
0.00001
|
NM_000249.4(MLH1):c.1896+5G>A
|
rs759870594
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000249.4(MLH1):c.1901G>T (p.Gly634Val)
|
rs786202396
|
0.00001
|
NM_000249.4(MLH1):c.1904A>G (p.Asn635Ser)
|
rs63751270
|
0.00001
|
NM_000249.4(MLH1):c.1945C>T (p.Pro649Ser)
|
rs1280930048
|
0.00001
|
NM_000249.4(MLH1):c.1989+12A>G
|
rs755976424
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp)
|
rs1312172811
|
0.00001
|
NM_000249.4(MLH1):c.2017T>C (p.Phe673Leu)
|
rs587780680
|
0.00001
|
NM_000249.4(MLH1):c.2050T>C (p.Tyr684His)
|
rs1386031101
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)
|
rs587781310
|
0.00001
|
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)
|
rs550890395
|
0.00001
|
NM_000249.4(MLH1):c.2072T>A (p.Ile691Lys)
|
rs781780309
|
0.00001
|
NM_000249.4(MLH1):c.2072T>C (p.Ile691Thr)
|
rs781780309
|
0.00001
|
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)
|
rs747727493
|
0.00001
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
0.00001
|
NM_000249.4(MLH1):c.2136G>T (p.Trp712Cys)
|
rs63750499
|
0.00001
|
NM_000249.4(MLH1):c.2147T>C (p.Val716Ala)
|
rs1251881236
|
0.00001
|
NM_000249.4(MLH1):c.2151A>T (p.Glu717Asp)
|
rs1553665630
|
0.00001
|
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His)
|
rs1453792999
|
0.00001
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
NM_000249.4(MLH1):c.2167G>A (p.Ala723Thr)
|
rs1392532273
|
0.00001
|
NM_000249.4(MLH1):c.2219T>C (p.Ile740Thr)
|
rs1044486319
|
0.00001
|
NM_000249.4(MLH1):c.221A>T (p.Asp74Val)
|
rs751894165
|
0.00001
|
NM_000249.4(MLH1):c.2228T>G (p.Leu743Arg)
|
rs864622258
|
0.00001
|
NM_000249.4(MLH1):c.2240C>G (p.Pro747Arg)
|
rs1224959447
|
0.00001
|
NM_000249.4(MLH1):c.2242G>C (p.Asp748His)
|
rs374380262
|
0.00001
|
NM_000249.4(MLH1):c.2254G>C (p.Val752Leu)
|
rs1196350669
|
0.00001
|
NM_000249.4(MLH1):c.266A>G (p.Glu89Gly)
|
rs758110228
|
0.00001
|
NM_000249.4(MLH1):c.26G>A (p.Arg9Gln)
|
rs1274810165
|
0.00001
|
NM_000249.4(MLH1):c.275C>T (p.Ala92Val)
|
rs768132746
|
0.00001
|
NM_000249.4(MLH1):c.280A>G (p.Ile94Val)
|
rs1399177067
|
0.00001
|
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)
|
rs63751070
|
0.00001
|
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)
|
rs777971423
|
0.00001
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.317G>A (p.Ser106Asn)
|
rs368208495
|
0.00001
|
NM_000249.4(MLH1):c.319A>C (p.Ile107Leu)
|
rs572906317
|
0.00001
|
NM_000249.4(MLH1):c.335A>G (p.His112Arg)
|
rs775914775
|
0.00001
|
NM_000249.4(MLH1):c.343A>G (p.Ile115Val)
|
rs371667663
|
0.00001
|
NM_000249.4(MLH1):c.344T>C (p.Ile115Thr)
|
rs764120517
|
0.00001
|
NM_000249.4(MLH1):c.346A>G (p.Thr116Ala)
|
rs750353040
|
0.00001
|
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)
|
rs267607740
|
0.00001
|
NM_000249.4(MLH1):c.370T>C (p.Cys124Arg)
|
rs780816243
|
0.00001
|
NM_000249.4(MLH1):c.380+6G>A
|
rs1185917556
|
0.00001
|
NM_000249.4(MLH1):c.385A>G (p.Ser129Gly)
|
rs1333790237
|
0.00001
|
NM_000249.4(MLH1):c.386G>A (p.Ser129Asn)
|
rs755678310
|
0.00001
|
NM_000249.4(MLH1):c.44T>C (p.Val15Ala)
|
rs864622396
|
0.00001
|
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)
|
rs776969475
|
0.00001
|
NM_000249.4(MLH1):c.454G>A (p.Val152Met)
|
rs748417604
|
0.00001
|
NM_000249.4(MLH1):c.458A>G (p.Glu153Gly)
|
rs770023778
|
0.00001
|
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn)
|
rs765014361
|
0.00001
|
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)
|
rs1448308275
|
0.00001
|
NM_000249.4(MLH1):c.506C>T (p.Pro169Leu)
|
rs63750834
|
0.00001
|
NM_000249.4(MLH1):c.520G>A (p.Gly174Arg)
|
rs1391774700
|
0.00001
|
NM_000249.4(MLH1):c.532G>C (p.Glu178Gln)
|
rs1248251121
|
0.00001
|
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser)
|
rs1064795694
|
0.00001
|
NM_000249.4(MLH1):c.546-3C>T
|
rs752997536
|
0.00001
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
NM_000249.4(MLH1):c.568A>G (p.Ile190Val)
|
rs786202038
|
0.00001
|
NM_000249.4(MLH1):c.589-17T>A
|
rs754180618
|
0.00001
|
NM_000249.4(MLH1):c.599C>T (p.Thr200Ile)
|
rs1302815708
|
0.00001
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
NM_000249.4(MLH1):c.601G>C (p.Val201Leu)
|
rs534184145
|
0.00001
|
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)
|
rs587781509
|
0.00001
|
NM_000249.4(MLH1):c.634A>G (p.Thr212Ala)
|
rs771612764
|
0.00001
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
NM_000249.4(MLH1):c.666T>G (p.Asn222Lys)
|
rs751719069
|
0.00001
|
NM_000249.4(MLH1):c.678-4A>G
|
rs766711342
|
0.00001
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
NM_000249.4(MLH1):c.688G>C (p.Glu230Gln)
|
rs1466223609
|
0.00001
|
NM_000249.4(MLH1):c.695G>T (p.Gly232Val)
|
rs149302013
|
0.00001
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu)
|
rs587778447
|
0.00001
|
NM_000249.4(MLH1):c.736A>G (p.Ile246Val)
|
rs750253749
|
0.00001
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
NM_000249.4(MLH1):c.774C>G (p.Phe258Leu)
|
rs1306127402
|
0.00001
|
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)
|
rs63750642
|
0.00001
|
NM_000249.4(MLH1):c.782T>A (p.Phe261Tyr)
|
rs1359073993
|
0.00001
|
NM_000249.4(MLH1):c.786C>G (p.Ile262Met)
|
rs748553134
|
0.00001
|
NM_000249.4(MLH1):c.788A>G (p.Asn263Ser)
|
rs104894997
|
0.00001
|
NM_000249.4(MLH1):c.797T>C (p.Leu266Pro)
|
rs747697495
|
0.00001
|
NM_000249.4(MLH1):c.799G>A (p.Val267Ile)
|
rs876660752
|
0.00001
|
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)
|
rs756398627
|
0.00001
|
NM_000249.4(MLH1):c.805T>A (p.Ser269Thr)
|
rs786203623
|
0.00001
|
NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)
|
rs769958855
|
0.00001
|
NM_000249.4(MLH1):c.826A>G (p.Ile276Val)
|
rs876660395
|
0.00001
|
NM_000249.4(MLH1):c.842C>G (p.Ala281Gly)
|
rs63749950
|
0.00001
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile)
|
rs786203878
|
0.00001
|
NM_000249.4(MLH1):c.880C>T (p.Leu294Phe)
|
rs2082757345
|
0.00001
|
NM_000249.4(MLH1):c.885-3C>T
|
rs774073825
|
0.00001
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
NM_000249.4(MLH1):c.940G>T (p.Val314Phe)
|
rs863224639
|
0.00001
|
NM_000249.4(MLH1):c.943C>T (p.His315Tyr)
|
rs151119913
|
0.00001
|
NM_000249.4(MLH1):c.973C>T (p.Arg325Trp)
|
rs1064793519
|
0.00001
|
NM_000249.4(MLH1):c.976G>A (p.Val326Met)
|
rs730881739
|
0.00001
|
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)
|
rs587782087
|
0.00001
|
NM_000249.4(MLH1):c.996C>T (p.Ser332=)
|
rs775167683
|
0.00001
|
NM_000251.2(MSH2):c.-43G>C
|
rs781492698
|
0.00001
|
NM_000251.2(MSH2):c.-94C>G
|
rs786202841
|
0.00001
|
NM_000251.2(MSH2):c.-98C>T
|
rs777285149
|
0.00001
|
NM_000251.3(MSH2):c.-10A>G
|
rs765201464
|
0.00001
|
NM_000251.3(MSH2):c.-18A>T
|
rs759730085
|
0.00001
|
NM_000251.3(MSH2):c.-21A>G
|
rs776559145
|
0.00001
|
NM_000251.3(MSH2):c.-22C>T
|
rs770870694
|
0.00001
|
NM_000251.3(MSH2):c.-2A>C
|
rs906564011
|
0.00001
|
NM_000251.3(MSH2):c.-4C>T
|
rs1376741577
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000251.3(MSH2):c.103C>T (p.Arg35Cys)
|
rs1060502034
|
0.00001
|
NM_000251.3(MSH2):c.1076+3A>G
|
rs267607941
|
0.00001
|
NM_000251.3(MSH2):c.1076+4T>C
|
rs764606343
|
0.00001
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)
|
rs770201760
|
0.00001
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.1141C>A (p.Leu381Ile)
|
rs1573484556
|
0.00001
|
NM_000251.3(MSH2):c.1145G>A (p.Arg382His)
|
rs267607947
|
0.00001
|
NM_000251.3(MSH2):c.1148G>T (p.Arg383Leu)
|
rs376934727
|
0.00001
|
NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)
|
rs564736113
|
0.00001
|
NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)
|
rs1419725521
|
0.00001
|
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)
|
rs1203515094
|
0.00001
|
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)
|
rs757276241
|
0.00001
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
NM_000251.3(MSH2):c.1172C>A (p.Ala391Asp)
|
rs864622674
|
0.00001
|
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)
|
rs61756465
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)
|
rs878853799
|
0.00001
|
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)
|
rs63750379
|
0.00001
|
NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)
|
rs1354753753
|
0.00001
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
NM_000251.3(MSH2):c.1244C>G (p.Pro415Arg)
|
rs1463763476
|
0.00001
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
NM_000251.3(MSH2):c.1276+4A>G
|
rs1481785592
|
0.00001
|
NM_000251.3(MSH2):c.1276+5C>A
|
rs755284496
|
0.00001
|
NM_000251.3(MSH2):c.1334C>T (p.Ser445Phe)
|
rs752067883
|
0.00001
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
NM_000251.3(MSH2):c.1358T>C (p.Met453Thr)
|
rs63750697
|
0.00001
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)
|
rs1060502025
|
0.00001
|
NM_000251.3(MSH2):c.1363G>C (p.Glu455Gln)
|
rs1675074360
|
0.00001
|
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)
|
rs575905950
|
0.00001
|
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe)
|
rs1051194508
|
0.00001
|
NM_000251.3(MSH2):c.1435A>C (p.Ser479Arg)
|
rs770550720
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
NM_000251.3(MSH2):c.1475T>C (p.Met492Thr)
|
rs1357803103
|
0.00001
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
NM_000251.3(MSH2):c.1496C>T (p.Ala499Val)
|
rs1186764263
|
0.00001
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
NM_000251.3(MSH2):c.1573G>A (p.Val525Ile)
|
rs1396878326
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
NM_000251.3(MSH2):c.1653T>A (p.Phe551Leu)
|
rs876660635
|
0.00001
|
NM_000251.3(MSH2):c.1657A>T (p.Asn553Tyr)
|
rs772772789
|
0.00001
|
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser)
|
rs139920308
|
0.00001
|
NM_000251.3(MSH2):c.1679A>T (p.Asn560Ile)
|
rs1429353441
|
0.00001
|
NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln)
|
rs1114167816
|
0.00001
|
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)
|
rs587779963
|
0.00001
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
NM_000251.3(MSH2):c.1760-3C>T
|
rs786202843
|
0.00001
|
NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu)
|
rs587782643
|
0.00001
|
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)
|
rs1449905909
|
0.00001
|
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)
|
rs1553368510
|
0.00001
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
NM_000251.3(MSH2):c.1831G>A (p.Val611Met)
|
rs369385048
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg)
|
rs371776176
|
0.00001
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
NM_000251.3(MSH2):c.18G>C (p.Lys6Asn)
|
rs146017810
|
0.00001
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
NM_000251.3(MSH2):c.192C>G (p.Ile64Met)
|
rs1395172053
|
0.00001
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
NM_000251.3(MSH2):c.1999A>G (p.Ile667Val)
|
rs876660585
|
0.00001
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
NM_000251.3(MSH2):c.19G>A (p.Glu7Lys)
|
rs375561490
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
NM_000251.3(MSH2):c.2050G>T (p.Val684Leu)
|
rs1060502041
|
0.00001
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
NM_000251.3(MSH2):c.2083G>C (p.Val695Leu)
|
rs772491283
|
0.00001
|
NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser)
|
rs546201898
|
0.00001
|
NM_000251.3(MSH2):c.2106G>A (p.Val702=)
|
rs786201108
|
0.00001
|
NM_000251.3(MSH2):c.211+5G>T
|
rs1060501999
|
0.00001
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
NM_000251.3(MSH2):c.212-3A>T
|
rs879255341
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
NM_000251.3(MSH2):c.2156T>G (p.Leu719Trp)
|
rs777933557
|
0.00001
|
NM_000251.3(MSH2):c.2170A>G (p.Thr724Ala)
|
rs879254203
|
0.00001
|
NM_000251.3(MSH2):c.2171C>T (p.Thr724Met)
|
rs63751125
|
0.00001
|
NM_000251.3(MSH2):c.217A>G (p.Lys73Glu)
|
rs770110491
|
0.00001
|
NM_000251.3(MSH2):c.2187G>A (p.Met729Ile)
|
rs587779141
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
NM_000251.3(MSH2):c.228G>T (p.Gln76His)
|
rs587782857
|
0.00001
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
NM_000251.3(MSH2):c.2319G>C (p.Lys773Asn)
|
rs745528772
|
0.00001
|
NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)
|
rs775464903
|
0.00001
|
NM_000251.3(MSH2):c.2337G>A (p.Met779Ile)
|
rs41295292
|
0.00001
|
NM_000251.3(MSH2):c.2348A>G (p.His783Arg)
|
rs587781594
|
0.00001
|
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)
|
rs876660738
|
0.00001
|
NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)
|
rs863224641
|
0.00001
|
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)
|
rs63751168
|
0.00001
|
NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)
|
rs1064793491
|
0.00001
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
NM_000251.3(MSH2):c.2487T>G (p.His829Gln)
|
rs989510855
|
0.00001
|
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)
|
rs779729016
|
0.00001
|
NM_000251.3(MSH2):c.2507T>C (p.Phe836Ser)
|
rs942412988
|
0.00001
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
NM_000251.3(MSH2):c.2532_2534dup (p.Ala844_Lys845insAsn)
|
rs1208434860
|
0.00001
|
NM_000251.3(MSH2):c.2546T>G (p.Leu849Arg)
|
rs1316766241
|
0.00001
|
NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)
|
rs587779966
|
0.00001
|
NM_000251.3(MSH2):c.2564A>G (p.Gln855Arg)
|
rs587782256
|
0.00001
|
NM_000251.3(MSH2):c.2565G>T (p.Gln855His)
|
rs1553370408
|
0.00001
|
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val)
|
rs753459308
|
0.00001
|
NM_000251.3(MSH2):c.2591A>G (p.Asp864Gly)
|
rs863224642
|
0.00001
|
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)
|
rs1013401625
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr)
|
rs63750409
|
0.00001
|
NM_000251.3(MSH2):c.2656G>A (p.Glu886Lys)
|
rs1230083633
|
0.00001
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
NM_000251.3(MSH2):c.2716A>G (p.Ile906Val)
|
rs876658598
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000251.3(MSH2):c.2768T>A (p.Val923Glu)
|
rs146421227
|
0.00001
|
NM_000251.3(MSH2):c.2789dup (p.Val932fs)
|
rs786202481
|
0.00001
|
NM_000251.3(MSH2):c.280C>G (p.Leu94Val)
|
rs1330621664
|
0.00001
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys)
|
rs769215192
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)
|
rs767371843
|
0.00001
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)
|
rs63749907
|
0.00001
|
NM_000251.3(MSH2):c.395A>T (p.Glu132Val)
|
rs1486720679
|
0.00001
|
NM_000251.3(MSH2):c.422T>C (p.Met141Thr)
|
rs768313658
|
0.00001
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)
|
rs1183892581
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000251.3(MSH2):c.463G>A (p.Val155Ile)
|
rs1372639847
|
0.00001
|
NM_000251.3(MSH2):c.476G>T (p.Arg159Ile)
|
rs786202921
|
0.00001
|
NM_000251.3(MSH2):c.49G>A (p.Val17Ile)
|
rs63750966
|
0.00001
|
NM_000251.3(MSH2):c.515A>G (p.Lys172Arg)
|
rs1260033060
|
0.00001
|
NM_000251.3(MSH2):c.517C>G (p.Leu173Val)
|
rs1176822890
|
0.00001
|
NM_000251.3(MSH2):c.527G>T (p.Cys176Phe)
|
rs1553350829
|
0.00001
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe)
|
rs878853819
|
0.00001
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)
|
rs778573140
|
0.00001
|
NM_000251.3(MSH2):c.598G>A (p.Val200Ile)
|
rs1558459684
|
0.00001
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)
|
rs1060502002
|
0.00001
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
NM_000251.3(MSH2):c.611G>A (p.Gly204Glu)
|
rs770787472
|
0.00001
|
NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)
|
rs730881760
|
0.00001
|
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)
|
rs763298811
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.669G>A (p.Leu223=)
|
rs751195930
|
0.00001
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
NM_000251.3(MSH2):c.709A>G (p.Ile237Val)
|
rs63751307
|
0.00001
|
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)
|
rs138857091
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.72G>C (p.Gln24His)
|
rs1064794928
|
0.00001
|
NM_000251.3(MSH2):c.735G>T (p.Leu245Phe)
|
rs864622271
|
0.00001
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
NM_000251.3(MSH2):c.749G>A (p.Gly250Glu)
|
rs730881779
|
0.00001
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
NM_000251.3(MSH2):c.759G>A (p.Met253Ile)
|
rs1060502021
|
0.00001
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
NM_000251.3(MSH2):c.791A>G (p.Gln264Arg)
|
rs730881780
|
0.00001
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
NM_000251.3(MSH2):c.812C>A (p.Ser271Tyr)
|
rs139891783
|
0.00001
|
NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)
|
rs1558463956
|
0.00001
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
NM_000251.3(MSH2):c.824A>C (p.Lys275Thr)
|
rs1553352435
|
0.00001
|
NM_000251.3(MSH2):c.854A>G (p.Asn285Ser)
|
rs1060502031
|
0.00001
|
NM_000251.3(MSH2):c.864G>C (p.Gln288His)
|
rs1672951524
|
0.00001
|
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)
|
rs1296650088
|
0.00001
|
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser)
|
rs63749914
|
0.00001
|
NM_000251.3(MSH2):c.934C>G (p.Leu312Val)
|
rs756398636
|
0.00001
|
NM_000251.3(MSH2):c.956A>T (p.Asp319Val)
|
rs786204185
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
NM_000251.3(MSH2):c.98C>T (p.Thr33Ile)
|
rs769631146
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro)
|
rs781489326
|
0.00001
|
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
|
rs1287580250
|
0.00001
|
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)
|
rs753412659
|
0.00001
|
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)
|
rs368123691
|
0.00001
|
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)
|
rs766866500
|
0.00001
|
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
|
rs747280022
|
0.00001
|
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)
|
rs373884791
|
0.00001
|
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
|
rs2047817433
|
0.00001
|
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)
|
rs201611776
|
0.00001
|
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)
|
rs757379156
|
0.00001
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)
|
rs367696431
|
0.00001
|
NM_000294.2(PHKG2):c.-106G>A
|
rs879382458
|
0.00001
|
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser)
|
rs920855301
|
0.00001
|
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)
|
rs753644625
|
0.00001
|
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
|
rs779594016
|
0.00001
|
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
|
rs1567261889
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
|
rs192866993
|
0.00001
|
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala)
|
rs780358808
|
0.00001
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)
|
rs1560035364
|
0.00001
|
NM_000343.3(SLC5A1):c.-238G>A
|
rs1349973469
|
0.00001
|
NM_000343.4(SLC5A1):c.*1408G>A
|
rs1243897828
|
0.00001
|
NM_000343.4(SLC5A1):c.*1595A>C
|
rs1232699809
|
0.00001
|
NM_000343.4(SLC5A1):c.*1755T>G
|
rs886057413
|
0.00001
|
NM_000343.4(SLC5A1):c.*2201G>A
|
rs1394513769
|
0.00001
|
NM_000343.4(SLC5A1):c.*2694A>G
|
rs1379735549
|
0.00001
|
NM_000343.4(SLC5A1):c.*599C>T
|
rs2094055488
|
0.00001
|
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr)
|
rs774741107
|
0.00001
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly)
|
rs1414911182
|
0.00001
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
|
rs202145392
|
0.00001
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter)
|
rs199727071
|
0.00001
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
|
rs199683554
|
0.00001
|
NM_000343.4(SLC5A1):c.207+2dup
|
rs766189236
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)
|
rs1260871547
|
0.00001
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
|
rs775435397
|
0.00001
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr)
|
rs1253967489
|
0.00001
|
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)
|
rs202020538
|
0.00001
|
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile)
|
rs777779839
|
0.00001
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
0.00001
|
NM_000352.4(ABCC8):c.-190C>G
|
rs1395224084
|
0.00001
|
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser)
|
rs1183465672
|
0.00001
|
NM_000352.6(ABCC8):c.108C>T (p.His36=)
|
rs757935183
|
0.00001
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)
|
rs765529676
|
0.00001
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
NM_000352.6(ABCC8):c.1428C>G (p.Phe476Leu)
|
rs867541142
|
0.00001
|
NM_000352.6(ABCC8):c.1467+9C>T
|
rs774224706
|
0.00001
|
NM_000352.6(ABCC8):c.1468-2A>T
|
rs1057516946
|
0.00001
|
NM_000352.6(ABCC8):c.148+3G>A
|
rs996321405
|
0.00001
|
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp)
|
rs775894336
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)
|
rs773345085
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr)
|
rs886048054
|
0.00001
|
NM_000352.6(ABCC8):c.165C>T (p.Ser55=)
|
rs1591928903
|
0.00001
|
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)
|
rs1362268812
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg)
|
rs762919223
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.1818-7C>T
|
rs17846731
|
0.00001
|
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)
|
rs763273046
|
0.00001
|
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)
|
rs565662182
|
0.00001
|
NM_000352.6(ABCC8):c.1924-9C>T
|
rs1218098329
|
0.00001
|
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)
|
rs373175144
|
0.00001
|
NM_000352.6(ABCC8):c.1969C>T (p.Arg657Trp)
|
rs778117119
|
0.00001
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
NM_000352.6(ABCC8):c.1980C>T (p.Thr660=)
|
rs766374930
|
0.00001
|
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)
|
rs371724951
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)
|
rs1591794603
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys)
|
rs753296261
|
0.00001
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
0.00001
|
NM_000352.6(ABCC8):c.2291+7C>T
|
rs770152618
|
0.00001
|
NM_000352.6(ABCC8):c.2291+8G>A
|
rs748169568
|
0.00001
|
NM_000352.6(ABCC8):c.2368G>A (p.Glu790Lys)
|
rs1317396512
|
0.00001
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
NM_000352.6(ABCC8):c.2475+19G>A
|
rs373894772
|
0.00001
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>T
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2556+9A>C
|
rs1954870052
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.2694+15G>A
|
rs886048051
|
0.00001
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)
|
rs748585974
|
0.00001
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
NM_000352.6(ABCC8):c.291-8C>T
|
rs370095966
|
0.00001
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.3076C>G (p.Leu1026Val)
|
rs1354438772
|
0.00001
|
NM_000352.6(ABCC8):c.3147C>T (p.Asn1049=)
|
rs1317881086
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)
|
rs745895362
|
0.00001
|
NM_000352.6(ABCC8):c.3228G>T (p.Val1076=)
|
rs368587840
|
0.00001
|
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)
|
rs771538281
|
0.00001
|
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
|
rs1354859002
|
0.00001
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
0.00001
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp)
|
rs567382793
|
0.00001
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3868-5C>T
|
rs1591715618
|
0.00001
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn)
|
rs1199684247
|
0.00001
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)
|
rs1207446214
|
0.00001
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)
|
rs746249607
|
0.00001
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu)
|
rs1334003978
|
0.00001
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)
|
rs267602801
|
0.00001
|
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)
|
rs553746345
|
0.00001
|
NM_000352.6(ABCC8):c.4545+9T>C
|
rs775018351
|
0.00001
|
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)
|
rs17846721
|
0.00001
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
NM_000352.6(ABCC8):c.496C>A (p.Gln166Lys)
|
rs1591896370
|
0.00001
|
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
|
rs755745806
|
0.00001
|
NM_000352.6(ABCC8):c.510C>T (p.Cys170=)
|
rs752679178
|
0.00001
|
NM_000352.6(ABCC8):c.513C>T (p.Leu171=)
|
rs767395738
|
0.00001
|
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu)
|
rs368894930
|
0.00001
|
NM_000352.6(ABCC8):c.579+9G>A
|
rs776165640
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly)
|
rs149347593
|
0.00001
|
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
|
rs776498313
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000352.6(ABCC8):c.987G>A (p.Lys329=)
|
rs1216809389
|
0.00001
|
NM_000352.6(ABCC8):c.993C>T (p.Asn331=)
|
rs752188418
|
0.00001
|
NM_000374.5(UROD):c.561T>C (p.Ala187=)
|
rs780519904
|
0.00001
|
NM_000374.5(UROD):c.679C>G (p.Gln227Glu)
|
rs546150911
|
0.00001
|
NM_000374.5(UROD):c.738C>T (p.Ala246=)
|
rs757178659
|
0.00001
|
NM_000384.3(APOB):c.*207C>A
|
rs886055566
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)
|
rs886055573
|
0.00001
|
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)
|
rs886055572
|
0.00001
|
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)
|
rs886055571
|
0.00001
|
NM_000384.3(APOB):c.4216+4A>G
|
rs886055588
|
0.00001
|
NM_000410.4(HFE):c.766G>A (p.Val256Ile)
|
rs202068193
|
0.00001
|
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)
|
rs761918535
|
0.00001
|
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)
|
rs367709575
|
0.00001
|
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)
|
rs747255117
|
0.00001
|
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=)
|
rs763404399
|
0.00001
|
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)
|
rs8187807
|
0.00001
|
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)
|
rs747453583
|
0.00001
|
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)
|
rs370310867
|
0.00001
|
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)
|
rs863225299
|
0.00001
|
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)
|
rs756070393
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)
|
rs587782138
|
0.00001
|
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)
|
rs1060499968
|
0.00001
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)
|
rs775595174
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
NM_000458.4(HNF1B):c.*789T>C
|
rs886052887
|
0.00001
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala)
|
rs1352906725
|
0.00001
|
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)
|
rs772315985
|
0.00001
|
NM_000458.4(HNF1B):c.345-11T>G
|
rs200782591
|
0.00001
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
NM_000463.3(UGT1A1):c.*188T>G
|
rs200041554
|
0.00001
|
NM_000463.3(UGT1A1):c.*201G>A
|
rs541532523
|
0.00001
|
NM_000463.3(UGT1A1):c.*674G>A
|
rs1473113676
|
0.00001
|
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)
|
rs886044683
|
0.00001
|
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=)
|
rs769720139
|
0.00001
|
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=)
|
rs769310438
|
0.00001
|
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=)
|
rs374655757
|
0.00001
|
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly)
|
rs754213125
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1963G>C (p.Glu655Gln)
|
rs786203772
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)
|
rs144745159
|
0.00001
|
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)
|
rs745538406
|
0.00001
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)
|
rs780528577
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000514.4(GDNF):c.*1244A>G
|
rs886060598
|
0.00001
|
NM_000514.4(GDNF):c.*1657C>A
|
rs886060594
|
0.00001
|
NM_000514.4(GDNF):c.*1788G>A
|
rs886060592
|
0.00001
|
NM_000514.4(GDNF):c.*1927C>T
|
rs886060591
|
0.00001
|
NM_000514.4(GDNF):c.*2265T>C
|
rs1475344831
|
0.00001
|
NM_000514.4(GDNF):c.*346C>T
|
rs753233921
|
0.00001
|
NM_000514.4(GDNF):c.*617A>G
|
rs920356737
|
0.00001
|
NM_000514.4(GDNF):c.*907G>A
|
rs751619765
|
0.00001
|
NM_000514.4(GDNF):c.*958A>C
|
rs886060599
|
0.00001
|
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln)
|
rs769492137
|
0.00001
|
NM_000525.4(KCNJ11):c.*1220G>A
|
rs1457465996
|
0.00001
|
NM_000525.4(KCNJ11):c.*1562A>G
|
rs886048031
|
0.00001
|
NM_000525.4(KCNJ11):c.*701A>T
|
rs5207
|
0.00001
|
NM_000525.4(KCNJ11):c.-37C>T
|
rs753392628
|
0.00001
|
NM_000525.4(KCNJ11):c.-515G>A
|
rs886048044
|
0.00001
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)
|
rs745379486
|
0.00001
|
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)
|
rs797045635
|
0.00001
|
NM_000525.4(KCNJ11):c.1077G>A (p.Leu359=)
|
rs777788092
|
0.00001
|
NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr)
|
rs755839409
|
0.00001
|
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)
|
rs750689750
|
0.00001
|
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)
|
rs371275937
|
0.00001
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
NM_000525.4(KCNJ11):c.1123A>G (p.Met375Val)
|
rs777540229
|
0.00001
|
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
|
rs1450567888
|
0.00001
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
NM_000525.4(KCNJ11):c.174C>T (p.Asp58=)
|
rs1237212288
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000525.4(KCNJ11):c.291C>T (p.His97=)
|
rs371886780
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)
|
rs371977895
|
0.00001
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.480C>T (p.Asn160=)
|
rs568688504
|
0.00001
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=)
|
rs1260020267
|
0.00001
|
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=)
|
rs759487287
|
0.00001
|
NM_000525.4(KCNJ11):c.661C>T (p.Arg221Cys)
|
rs781450902
|
0.00001
|
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)
|
rs746308356
|
0.00001
|
NM_000525.4(KCNJ11):c.697C>A (p.Leu233Ile)
|
rs1564865302
|
0.00001
|
NM_000525.4(KCNJ11):c.719T>G (p.Met240Arg)
|
rs886042818
|
0.00001
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)
|
rs754683593
|
0.00001
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)
|
rs763728797
|
0.00001
|
NM_000535.7(PMS2):c.1027A>G (p.Ile343Val)
|
rs1181117995
|
0.00001
|
NM_000535.7(PMS2):c.1057G>A (p.Ala353Thr)
|
rs587782826
|
0.00001
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
NM_000535.7(PMS2):c.1060G>T (p.Val354Phe)
|
rs750984324
|
0.00001
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn)
|
rs876661105
|
0.00001
|
NM_000535.7(PMS2):c.1084A>G (p.Met362Val)
|
rs876659797
|
0.00001
|
NM_000535.7(PMS2):c.108C>A (p.Ser36Arg)
|
rs1368578377
|
0.00001
|
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu)
|
rs370066853
|
0.00001
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
NM_000535.7(PMS2):c.1136A>T (p.Asp379Val)
|
rs536031711
|
0.00001
|
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly)
|
rs748971523
|
0.00001
|
NM_000535.7(PMS2):c.1144+3A>G
|
rs1430015665
|
0.00001
|
NM_000535.7(PMS2):c.1164T>A (p.His388Gln)
|
rs768480216
|
0.00001
|
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys)
|
rs1243063129
|
0.00001
|
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser)
|
rs745306528
|
0.00001
|
NM_000535.7(PMS2):c.1186A>G (p.Met396Val)
|
rs863224675
|
0.00001
|
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile)
|
rs573123885
|
0.00001
|
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu)
|
rs786202542
|
0.00001
|
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln)
|
rs1171400724
|
0.00001
|
NM_000535.7(PMS2):c.1201G>C (p.Asp401His)
|
rs1284362486
|
0.00001
|
NM_000535.7(PMS2):c.1223C>T (p.Thr408Ile)
|
rs1347299632
|
0.00001
|
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)
|
rs864622553
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
NM_000535.7(PMS2):c.1250T>C (p.Ile417Thr)
|
rs1451465095
|
0.00001
|
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala)
|
rs1473720483
|
0.00001
|
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)
|
rs587782640
|
0.00001
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
|
rs587778619
|
0.00001
|
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
|
rs863224496
|
0.00001
|
NM_000535.7(PMS2):c.1300C>T (p.Pro434Ser)
|
rs1583321885
|
0.00001
|
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln)
|
rs786202669
|
0.00001
|
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile)
|
rs1187749040
|
0.00001
|
NM_000535.7(PMS2):c.1345C>G (p.Gln449Glu)
|
rs876661256
|
0.00001
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)
|
rs772659239
|
0.00001
|
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro)
|
rs1554297839
|
0.00001
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)
|
rs200116037
|
0.00001
|
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn)
|
rs1394213772
|
0.00001
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)
|
rs786203427
|
0.00001
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)
|
rs786203510
|
0.00001
|
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr)
|
rs752122569
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn)
|
rs148642064
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.14A>T (p.Glu5Val)
|
rs876659080
|
0.00001
|
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr)
|
rs777920014
|
0.00001
|
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly)
|
rs63751028
|
0.00001
|
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn)
|
rs766256390
|
0.00001
|
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)
|
rs587782479
|
0.00001
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)
|
rs1354150928
|
0.00001
|
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)
|
rs876658794
|
0.00001
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)
|
rs1425816147
|
0.00001
|
NM_000535.7(PMS2):c.163+3A>G
|
rs763369532
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
0.00001
|
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)
|
rs374591423
|
0.00001
|
NM_000535.7(PMS2):c.1664A>T (p.Gln555Leu)
|
rs745836140
|
0.00001
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu)
|
rs764749700
|
0.00001
|
NM_000535.7(PMS2):c.1702C>G (p.Pro568Ala)
|
rs786204115
|
0.00001
|
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)
|
rs762151417
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
0.00001
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
NM_000535.7(PMS2):c.1724A>G (p.Asn575Ser)
|
rs1424781748
|
0.00001
|
NM_000535.7(PMS2):c.1729A>C (p.Lys577Gln)
|
rs754339271
|
0.00001
|
NM_000535.7(PMS2):c.172C>T (p.Leu58Phe)
|
rs1465172427
|
0.00001
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1761T>G (p.Ser587Arg)
|
rs1311237867
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1777A>C (p.Lys593Gln)
|
rs1212790997
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)
|
rs1064793426
|
0.00001
|
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)
|
rs786204109
|
0.00001
|
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys)
|
rs773109986
|
0.00001
|
NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)
|
rs1583314932
|
0.00001
|
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu)
|
rs747785888
|
0.00001
|
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr)
|
rs1179605136
|
0.00001
|
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu)
|
rs370853512
|
0.00001
|
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr)
|
rs587779331
|
0.00001
|
NM_000535.7(PMS2):c.187G>A (p.Val63Met)
|
rs772216832
|
0.00001
|
NM_000535.7(PMS2):c.190G>A (p.Asp64Asn)
|
rs1583410797
|
0.00001
|
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)
|
rs886062400
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)
|
rs786203379
|
0.00001
|
NM_000535.7(PMS2):c.192T>G (p.Asp64Glu)
|
rs1258284726
|
0.00001
|
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser)
|
rs267608166
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn)
|
rs1488971334
|
0.00001
|
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
NM_000535.7(PMS2):c.1967A>G (p.Glu656Gly)
|
rs1481127167
|
0.00001
|
NM_000535.7(PMS2):c.1985A>G (p.Asp662Gly)
|
rs1320079782
|
0.00001
|
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala)
|
rs1404270894
|
0.00001
|
NM_000535.7(PMS2):c.200A>G (p.Glu67Gly)
|
rs1785422471
|
0.00001
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
0.00001
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.2063T>C (p.Ile688Thr)
|
rs755241829
|
0.00001
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
0.00001
|
NM_000535.7(PMS2):c.2098C>A (p.Gln700Lys)
|
rs1782451817
|
0.00001
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe)
|
rs139765160
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
|
rs1284646352
|
0.00001
|
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu)
|
rs876658439
|
0.00001
|
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu)
|
rs786202202
|
0.00001
|
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala)
|
rs1060503115
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr)
|
rs762206330
|
0.00001
|
NM_000535.7(PMS2):c.2275+5G>A
|
rs1583285249
|
0.00001
|
NM_000535.7(PMS2):c.2281G>C (p.Val761Leu)
|
rs201914670
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.23+6C>A
|
rs779104357
|
0.00001
|
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile)
|
rs876660374
|
0.00001
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly)
|
rs745500014
|
0.00001
|
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe)
|
rs191300933
|
0.00001
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn)
|
rs587781265
|
0.00001
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
NM_000535.7(PMS2):c.2389A>G (p.Met797Val)
|
rs1433888137
|
0.00001
|
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln)
|
rs587780055
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg)
|
rs967502389
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)
|
rs1306035279
|
0.00001
|
NM_000535.7(PMS2):c.2431G>A (p.Ala811Thr)
|
rs1169337656
|
0.00001
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
NM_000535.7(PMS2):c.2445+3A>T
|
rs765667554
|
0.00001
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.2494A>G (p.Thr832Ala)
|
rs587780056
|
0.00001
|
NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys)
|
rs786201039
|
0.00001
|
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys)
|
rs755478893
|
0.00001
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.277C>G (p.Gln93Glu)
|
rs1299810000
|
0.00001
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
0.00001
|
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro)
|
rs747771951
|
0.00001
|
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala)
|
rs878854050
|
0.00001
|
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu)
|
rs63751284
|
0.00001
|
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg)
|
rs750866397
|
0.00001
|
NM_000535.7(PMS2):c.328G>A (p.Ala110Thr)
|
rs767775907
|
0.00001
|
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr)
|
rs751799116
|
0.00001
|
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr)
|
rs1481967985
|
0.00001
|
NM_000535.7(PMS2):c.353+4A>G
|
rs760538709
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
NM_000535.7(PMS2):c.392T>C (p.Val131Ala)
|
rs1785226633
|
0.00001
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
NM_000535.7(PMS2):c.418A>G (p.Asn140Asp)
|
rs35911407
|
0.00001
|
NM_000535.7(PMS2):c.434A>T (p.Gln145Leu)
|
rs1064795040
|
0.00001
|
NM_000535.7(PMS2):c.438A>T (p.Lys146Asn)
|
rs1396558771
|
0.00001
|
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala)
|
rs1060503120
|
0.00001
|
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu)
|
rs778119115
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.452G>A (p.Arg151His)
|
rs35629870
|
0.00001
|
NM_000535.7(PMS2):c.45C>G (p.Ile15Met)
|
rs876660499
|
0.00001
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile)
|
rs750354871
|
0.00001
|
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg)
|
rs1554303922
|
0.00001
|
NM_000535.7(PMS2):c.47A>G (p.Lys16Arg)
|
rs1554306581
|
0.00001
|
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)
|
rs587781541
|
0.00001
|
NM_000535.7(PMS2):c.502G>A (p.Val168Met)
|
rs762645507
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.523A>G (p.Arg175Gly)
|
rs1395650223
|
0.00001
|
NM_000535.7(PMS2):c.529A>G (p.Ile177Val)
|
rs1377323953
|
0.00001
|
NM_000535.7(PMS2):c.537+4C>T
|
rs864622272
|
0.00001
|
NM_000535.7(PMS2):c.541T>A (p.Tyr181Asn)
|
rs863224680
|
0.00001
|
NM_000535.7(PMS2):c.574T>G (p.Cys192Gly)
|
rs773752935
|
0.00001
|
NM_000535.7(PMS2):c.575G>A (p.Cys192Tyr)
|
rs772404945
|
0.00001
|
NM_000535.7(PMS2):c.577A>G (p.Ile193Val)
|
rs1784819145
|
0.00001
|
NM_000535.7(PMS2):c.596G>A (p.Arg199His)
|
rs876658387
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000535.7(PMS2):c.610A>G (p.Asn204Asp)
|
rs746910555
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.615G>T (p.Gln205His)
|
rs752499497
|
0.00001
|
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
NM_000535.7(PMS2):c.650C>T (p.Thr217Ile)
|
rs774519794
|
0.00001
|
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
NM_000535.7(PMS2):c.67G>C (p.Val23Leu)
|
rs374830220
|
0.00001
|
NM_000535.7(PMS2):c.706-2dup
|
rs1490493105
|
0.00001
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
NM_000535.7(PMS2):c.733C>A (p.Leu245Met)
|
rs201375580
|
0.00001
|
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg)
|
rs1562670885
|
0.00001
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
NM_000535.7(PMS2):c.748T>C (p.Ser250Pro)
|
rs766690351
|
0.00001
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr)
|
rs1259974071
|
0.00001
|
NM_000535.7(PMS2):c.791A>G (p.His264Arg)
|
rs1060503129
|
0.00001
|
NM_000535.7(PMS2):c.793A>G (p.Asn265Asp)
|
rs1241742968
|
0.00001
|
NM_000535.7(PMS2):c.794A>G (p.Asn265Ser)
|
rs754164213
|
0.00001
|
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu)
|
rs876661158
|
0.00001
|
NM_000535.7(PMS2):c.803+4A>G
|
rs756312205
|
0.00001
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.826T>C (p.Cys276Arg)
|
rs1407229027
|
0.00001
|
NM_000535.7(PMS2):c.82T>C (p.Ser28Pro)
|
rs587781908
|
0.00001
|
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly)
|
rs1554300793
|
0.00001
|
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg)
|
rs876660871
|
0.00001
|
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser)
|
rs1274671450
|
0.00001
|
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)
|
rs563433235
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln)
|
rs369763423
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
NM_000535.7(PMS2):c.904G>T (p.Val302Phe)
|
rs755960629
|
0.00001
|
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr)
|
rs1562652063
|
0.00001
|
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)
|
rs750420143
|
0.00001
|
NM_000535.7(PMS2):c.932A>G (p.His311Arg)
|
rs1562651786
|
0.00001
|
NM_000535.7(PMS2):c.934A>G (p.Met312Val)
|
rs786202567
|
0.00001
|
NM_000535.7(PMS2):c.959T>A (p.Phe320Tyr)
|
rs1060503121
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NM_000545.8(HNF1A):c.-187C>T
|
rs970766228
|
0.00001
|
NM_000545.8(HNF1A):c.-218T>C
|
rs1024131753
|
0.00001
|
NM_000545.8(HNF1A):c.-4A>G
|
rs561269721
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)
|
rs138145827
|
0.00001
|
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)
|
rs371807951
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000545.8(HNF1A):c.1521C>A (p.Pro507=)
|
rs977750039
|
0.00001
|
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)
|
rs753702603
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)
|
rs775608608
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)
|
rs751368921
|
0.00001
|
NM_000545.8(HNF1A):c.1768G>A (p.Val590Met)
|
rs1168108747
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)
|
rs1877445147
|
0.00001
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
NM_000545.8(HNF1A):c.1896A>G (p.Ter632=)
|
rs587778395
|
0.00001
|
NM_000545.8(HNF1A):c.203G>A (p.Arg68Gln)
|
rs188085301
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
NM_000545.8(HNF1A):c.503G>A (p.Arg168His)
|
rs377110124
|
0.00001
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr)
|
rs587778396
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000572.3(IL10):c.121C>T (p.Leu41Phe)
|
rs750010814
|
0.00001
|
NM_000572.3(IL10):c.274G>A (p.Glu92Lys)
|
rs780612967
|
0.00001
|
NM_000572.3(IL10):c.301C>A (p.Gln101Lys)
|
rs777582308
|
0.00001
|
NM_000572.3(IL10):c.320C>T (p.Ala107Val)
|
rs755490123
|
0.00001
|
NM_000572.3(IL10):c.365G>A (p.Arg122Lys)
|
rs371608920
|
0.00001
|
NM_000572.3(IL10):c.370C>T (p.Arg124Trp)
|
rs746523858
|
0.00001
|
NM_000572.3(IL10):c.383G>T (p.Arg128Leu)
|
rs760677075
|
0.00001
|
NM_000572.3(IL10):c.434C>T (p.Ala145Val)
|
rs774072665
|
0.00001
|
NM_000572.3(IL10):c.444+6C>T
|
rs749664677
|
0.00001
|
NM_000572.3(IL10):c.514A>G (p.Met172Val)
|
rs768418064
|
0.00001
|
NM_000572.3(IL10):c.521T>C (p.Met174Thr)
|
rs762496248
|
0.00001
|
NM_000628.5(IL10RB):c.*519A>G
|
rs1339192870
|
0.00001
|
NM_000628.5(IL10RB):c.122A>G (p.Glu41Gly)
|
rs753650110
|
0.00001
|
NM_000628.5(IL10RB):c.311C>T (p.Thr104Ile)
|
rs1989178743
|
0.00001
|
NM_000628.5(IL10RB):c.421G>A (p.Glu141Lys)
|
rs387907326
|
0.00001
|
NM_000628.5(IL10RB):c.446A>G (p.Tyr149Cys)
|
rs1186719026
|
0.00001
|
NM_000628.5(IL10RB):c.610T>C (p.Trp204Arg)
|
rs1989311645
|
0.00001
|
NM_000628.5(IL10RB):c.641A>G (p.His214Arg)
|
rs949664612
|
0.00001
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
NM_000628.5(IL10RB):c.650C>T (p.Thr217Met)
|
rs746250523
|
0.00001
|
NM_000628.5(IL10RB):c.673G>A (p.Val225Ile)
|
rs765506701
|
0.00001
|
NM_000628.5(IL10RB):c.707T>C (p.Leu236Pro)
|
rs752218442
|
0.00001
|
NM_000628.5(IL10RB):c.804G>A (p.Glu268=)
|
rs767451280
|
0.00001
|
NM_000628.5(IL10RB):c.889G>A (p.Val297Ile)
|
rs911014085
|
0.00001
|
NM_000628.5(IL10RB):c.913G>A (p.Gly305Ser)
|
rs376143910
|
0.00001
|
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=)
|
rs139019277
|
0.00001
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
NM_001040108.2(MLH3):c.1015T>C (p.Cys339Arg)
|
rs1183691617
|
0.00001
|
NM_001040108.2(MLH3):c.1030G>A (p.Val344Met)
|
rs758958422
|
0.00001
|
NM_001040108.2(MLH3):c.1049A>C (p.Gln350Pro)
|
rs770643186
|
0.00001
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
NM_001040108.2(MLH3):c.1148C>T (p.Thr383Ile)
|
rs1476030225
|
0.00001
|
NM_001040108.2(MLH3):c.1166A>G (p.Asn389Ser)
|
rs769209737
|
0.00001
|
NM_001040108.2(MLH3):c.1170C>G (p.Phe390Leu)
|
rs1892424563
|
0.00001
|
NM_001040108.2(MLH3):c.1183A>G (p.Asn395Asp)
|
rs776076959
|
0.00001
|
NM_001040108.2(MLH3):c.119G>A (p.Cys40Tyr)
|
rs746448677
|
0.00001
|
NM_001040108.2(MLH3):c.121G>A (p.Val41Met)
|
rs770297216
|
0.00001
|
NM_001040108.2(MLH3):c.1300A>G (p.Asn434Asp)
|
rs886050777
|
0.00001
|
NM_001040108.2(MLH3):c.1306A>G (p.Asn436Asp)
|
rs754824568
|
0.00001
|
NM_001040108.2(MLH3):c.1353C>G (p.Ser451Arg)
|
rs1479636962
|
0.00001
|
NM_001040108.2(MLH3):c.1377A>C (p.Gln459His)
|
rs775675058
|
0.00001
|
NM_001040108.2(MLH3):c.1384G>A (p.Asp462Asn)
|
rs369525473
|
0.00001
|
NM_001040108.2(MLH3):c.1427T>C (p.Ile476Thr)
|
rs759144160
|
0.00001
|
NM_001040108.2(MLH3):c.1432G>A (p.Ala478Thr)
|
rs201071230
|
0.00001
|
NM_001040108.2(MLH3):c.1490T>C (p.Leu497Ser)
|
rs1009026527
|
0.00001
|
NM_001040108.2(MLH3):c.1519A>G (p.Met507Val)
|
rs371891794
|
0.00001
|
NM_001040108.2(MLH3):c.1560G>T (p.Glu520Asp)
|
rs886050776
|
0.00001
|
NM_001040108.2(MLH3):c.1615G>A (p.Ala539Thr)
|
rs369273391
|
0.00001
|
NM_001040108.2(MLH3):c.1652C>G (p.Pro551Arg)
|
rs1230335603
|
0.00001
|
NM_001040108.2(MLH3):c.1669G>A (p.Ala557Thr)
|
rs1347649293
|
0.00001
|
NM_001040108.2(MLH3):c.1672A>G (p.Thr558Ala)
|
rs1386400935
|
0.00001
|
NM_001040108.2(MLH3):c.1688A>G (p.Gln563Arg)
|
rs777324118
|
0.00001
|
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile)
|
rs1479954154
|
0.00001
|
NM_001040108.2(MLH3):c.1762A>G (p.Ser588Gly)
|
rs1892367899
|
0.00001
|
NM_001040108.2(MLH3):c.1770T>G (p.Cys590Trp)
|
rs769773711
|
0.00001
|
NM_001040108.2(MLH3):c.1798C>T (p.Arg600Ter)
|
rs927878214
|
0.00001
|
NM_001040108.2(MLH3):c.1955C>T (p.Thr652Ile)
|
rs769332499
|
0.00001
|
NM_001040108.2(MLH3):c.2021A>G (p.Asn674Ser)
|
rs765583244
|
0.00001
|
NM_001040108.2(MLH3):c.2026A>G (p.Arg676Gly)
|
rs766265028
|
0.00001
|
NM_001040108.2(MLH3):c.2108A>T (p.Lys703Ile)
|
rs1330464135
|
0.00001
|
NM_001040108.2(MLH3):c.2129T>C (p.Leu710Ser)
|
rs1238847805
|
0.00001
|
NM_001040108.2(MLH3):c.2138del (p.Thr713fs)
|
rs774749587
|
0.00001
|
NM_001040108.2(MLH3):c.2174A>G (p.Asn725Ser)
|
rs772538373
|
0.00001
|
NM_001040108.2(MLH3):c.2197T>G (p.Leu733Val)
|
rs566653064
|
0.00001
|
NM_001040108.2(MLH3):c.2218A>G (p.Ile740Val)
|
rs1892322400
|
0.00001
|
NM_001040108.2(MLH3):c.2225G>A (p.Arg742His)
|
rs375623365
|
0.00001
|
NM_001040108.2(MLH3):c.2278C>T (p.Gln760Ter)
|
rs199834594
|
0.00001
|
NM_001040108.2(MLH3):c.2289G>T (p.Lys763Asn)
|
rs1428119509
|
0.00001
|
NM_001040108.2(MLH3):c.2344C>G (p.Leu782Val)
|
rs772267556
|
0.00001
|
NM_001040108.2(MLH3):c.236A>G (p.His79Arg)
|
rs753528013
|
0.00001
|
NM_001040108.2(MLH3):c.2389C>T (p.Arg797Cys)
|
rs954634089
|
0.00001
|
NM_001040108.2(MLH3):c.2443G>C (p.Asp815His)
|
rs776060737
|
0.00001
|
NM_001040108.2(MLH3):c.244C>T (p.Gln82Ter)
|
rs372763743
|
0.00001
|
NM_001040108.2(MLH3):c.2483A>G (p.Glu828Gly)
|
rs754540902
|
0.00001
|
NM_001040108.2(MLH3):c.2491C>T (p.Pro831Ser)
|
rs1356949383
|
0.00001
|
NM_001040108.2(MLH3):c.2558T>C (p.Leu853Pro)
|
rs1181064566
|
0.00001
|
NM_001040108.2(MLH3):c.2592G>T (p.Leu864Phe)
|
rs1555345136
|
0.00001
|
NM_001040108.2(MLH3):c.2624C>G (p.Ser875Cys)
|
rs760079290
|
0.00001
|
NM_001040108.2(MLH3):c.2668A>G (p.Met890Val)
|
rs970455680
|
0.00001
|
NM_001040108.2(MLH3):c.2720A>T (p.Lys907Ile)
|
rs766847331
|
0.00001
|
NM_001040108.2(MLH3):c.2798G>A (p.Gly933Asp)
|
rs780801367
|
0.00001
|
NM_001040108.2(MLH3):c.2846A>C (p.Lys949Thr)
|
rs766819210
|
0.00001
|
NM_001040108.2(MLH3):c.2850T>G (p.Asn950Lys)
|
rs762525606
|
0.00001
|
NM_001040108.2(MLH3):c.2897C>T (p.Ser966Leu)
|
rs762868700
|
0.00001
|
NM_001040108.2(MLH3):c.2903C>T (p.Thr968Ile)
|
rs769450598
|
0.00001
|
NM_001040108.2(MLH3):c.2905C>T (p.Pro969Ser)
|
rs759555217
|
0.00001
|
NM_001040108.2(MLH3):c.2906C>A (p.Pro969His)
|
rs776422424
|
0.00001
|
NM_001040108.2(MLH3):c.2921A>G (p.Tyr974Cys)
|
rs143316827
|
0.00001
|
NM_001040108.2(MLH3):c.2954A>G (p.Asp985Gly)
|
rs761266398
|
0.00001
|
NM_001040108.2(MLH3):c.2959C>T (p.Leu987Phe)
|
rs933183454
|
0.00001
|
NM_001040108.2(MLH3):c.299T>C (p.Ile100Thr)
|
rs201611423
|
0.00001
|
NM_001040108.2(MLH3):c.3021T>G (p.Asn1007Lys)
|
rs1360064914
|
0.00001
|
NM_001040108.2(MLH3):c.3067A>G (p.Ser1023Gly)
|
rs778414174
|
0.00001
|
NM_001040108.2(MLH3):c.3134A>G (p.Gln1045Arg)
|
rs1421629305
|
0.00001
|
NM_001040108.2(MLH3):c.3190C>G (p.Leu1064Val)
|
rs774056235
|
0.00001
|
NM_001040108.2(MLH3):c.3206C>A (p.Ala1069Asp)
|
rs1892226746
|
0.00001
|
NM_001040108.2(MLH3):c.3243C>G (p.Asp1081Glu)
|
rs1471595778
|
0.00001
|
NM_001040108.2(MLH3):c.325A>G (p.Ile109Val)
|
rs1162492250
|
0.00001
|
NM_001040108.2(MLH3):c.3288G>C (p.Gln1096His)
|
rs749573128
|
0.00001
|
NM_001040108.2(MLH3):c.329C>T (p.Ser110Leu)
|
rs749113408
|
0.00001
|
NM_001040108.2(MLH3):c.3331C>T (p.Leu1111Phe)
|
rs761143890
|
0.00001
|
NM_001040108.2(MLH3):c.3335C>T (p.Pro1112Leu)
|
rs138166592
|
0.00001
|
NM_001040108.2(MLH3):c.3382A>G (p.Thr1128Ala)
|
rs898634762
|
0.00001
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
NM_001040108.2(MLH3):c.3386T>C (p.Val1129Ala)
|
rs202222467
|
0.00001
|
NM_001040108.2(MLH3):c.3475G>T (p.Asp1159Tyr)
|
rs755836944
|
0.00001
|
NM_001040108.2(MLH3):c.3500G>A (p.Ser1167Asn)
|
rs769350518
|
0.00001
|
NM_001040108.2(MLH3):c.3550G>A (p.Gly1184Arg)
|
rs747888681
|
0.00001
|
NM_001040108.2(MLH3):c.3571G>T (p.Val1191Phe)
|
rs1420496802
|
0.00001
|
NM_001040108.2(MLH3):c.3586G>T (p.Asp1196Tyr)
|
rs1891569856
|
0.00001
|
NM_001040108.2(MLH3):c.3601G>A (p.Ala1201Thr)
|
rs144875666
|
0.00001
|
NM_001040108.2(MLH3):c.3615C>G (p.Ser1205Arg)
|
rs1339332143
|
0.00001
|
NM_001040108.2(MLH3):c.3643+2T>C
|
rs1555343301
|
0.00001
|
NM_001040108.2(MLH3):c.3643+4A>C
|
rs373766646
|
0.00001
|
NM_001040108.2(MLH3):c.3658G>A (p.Val1220Met)
|
rs560775993
|
0.00001
|
NM_001040108.2(MLH3):c.365A>G (p.Lys122Arg)
|
rs762453215
|
0.00001
|
NM_001040108.2(MLH3):c.3680C>T (p.Ala1227Val)
|
rs770275491
|
0.00001
|
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His)
|
rs781739661
|
0.00001
|
NM_001040108.2(MLH3):c.3700G>A (p.Glu1234Lys)
|
rs1343728238
|
0.00001
|
NM_001040108.2(MLH3):c.3745T>A (p.Ser1249Thr)
|
rs748334436
|
0.00001
|
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp)
|
rs754799700
|
0.00001
|
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)
|
rs121908439
|
0.00001
|
NM_001040108.2(MLH3):c.3842A>G (p.Asn1281Ser)
|
rs1890990437
|
0.00001
|
NM_001040108.2(MLH3):c.3871T>C (p.Phe1291Leu)
|
rs1432917948
|
0.00001
|
NM_001040108.2(MLH3):c.3880A>G (p.Thr1294Ala)
|
rs1386608856
|
0.00001
|
NM_001040108.2(MLH3):c.3950G>A (p.Arg1317Gln)
|
rs1434472127
|
0.00001
|
NM_001040108.2(MLH3):c.3974A>G (p.Lys1325Arg)
|
rs781013323
|
0.00001
|
NM_001040108.2(MLH3):c.3979A>G (p.Ile1327Val)
|
rs761250969
|
0.00001
|
NM_001040108.2(MLH3):c.3997C>T (p.Arg1333Ter)
|
rs1255282773
|
0.00001
|
NM_001040108.2(MLH3):c.3G>A (p.Met1Ile)
|
rs1228816377
|
0.00001
|
NM_001040108.2(MLH3):c.4015C>T (p.Leu1339Phe)
|
rs201931206
|
0.00001
|
NM_001040108.2(MLH3):c.4027G>A (p.Gly1343Arg)
|
rs28757040
|
0.00001
|
NM_001040108.2(MLH3):c.4183C>G (p.His1395Asp)
|
rs762922917
|
0.00001
|
NM_001040108.2(MLH3):c.41G>A (p.Arg14His)
|
rs760072474
|
0.00001
|
NM_001040108.2(MLH3):c.4205C>T (p.Pro1402Leu)
|
rs776206735
|
0.00001
|
NM_001040108.2(MLH3):c.4253A>G (p.Asn1418Ser)
|
rs1258839619
|
0.00001
|
NM_001040108.2(MLH3):c.4262A>C (p.Lys1421Thr)
|
rs758153765
|
0.00001
|
NM_001040108.2(MLH3):c.4277C>T (p.Ala1426Val)
|
rs765909949
|
0.00001
|
NM_001040108.2(MLH3):c.4301A>G (p.Lys1434Arg)
|
rs772866061
|
0.00001
|
NM_001040108.2(MLH3):c.4319G>C (p.Arg1440Thr)
|
rs763372977
|
0.00001
|
NM_001040108.2(MLH3):c.4321C>T (p.Gln1441Ter)
|
rs148895027
|
0.00001
|
NM_001040108.2(MLH3):c.4360T>C (p.Ter1454Arg)
|
rs1216996898
|
0.00001
|
NM_001040108.2(MLH3):c.443T>G (p.Val148Gly)
|
rs1484161045
|
0.00001
|
NM_001040108.2(MLH3):c.481T>C (p.Cys161Arg)
|
rs368724856
|
0.00001
|
NM_001040108.2(MLH3):c.500A>G (p.Glu167Gly)
|
rs770833178
|
0.00001
|
NM_001040108.2(MLH3):c.503T>C (p.Phe168Ser)
|
rs780296518
|
0.00001
|
NM_001040108.2(MLH3):c.580T>G (p.Ser194Ala)
|
rs1379438361
|
0.00001
|
NM_001040108.2(MLH3):c.59G>A (p.Ser20Asn)
|
rs1269145505
|
0.00001
|
NM_001040108.2(MLH3):c.607A>G (p.Lys203Glu)
|
rs374988065
|
0.00001
|
NM_001040108.2(MLH3):c.61T>C (p.Ser21Pro)
|
rs1233254643
|
0.00001
|
NM_001040108.2(MLH3):c.623G>A (p.Cys208Tyr)
|
rs759892263
|
0.00001
|
NM_001040108.2(MLH3):c.632T>C (p.Phe211Ser)
|
rs1892472757
|
0.00001
|
NM_001040108.2(MLH3):c.6C>G (p.Ile2Met)
|
rs776416749
|
0.00001
|
NM_001040108.2(MLH3):c.755T>C (p.Leu252Ser)
|
rs1892461704
|
0.00001
|
NM_001040108.2(MLH3):c.820A>G (p.Lys274Glu)
|
rs1892456852
|
0.00001
|
NM_001040108.2(MLH3):c.883C>T (p.Arg295Trp)
|
rs761567123
|
0.00001
|
NM_001040108.2(MLH3):c.953A>T (p.Asp318Val)
|
rs1281805197
|
0.00001
|
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)
|
rs539049352
|
0.00001
|
NM_001041.4(SI):c.1147-6T>A
|
rs146539849
|
0.00001
|
NM_001041.4(SI):c.118+11C>T
|
rs767898820
|
0.00001
|
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)
|
rs777261367
|
0.00001
|
NM_001041.4(SI):c.1278+11A>G
|
rs756042084
|
0.00001
|
NM_001041.4(SI):c.1526T>C (p.Val509Ala)
|
rs551453053
|
0.00001
|
NM_001041.4(SI):c.1796C>T (p.Ala599Val)
|
rs747388124
|
0.00001
|
NM_001041.4(SI):c.2338A>G (p.Met780Val)
|
rs770724135
|
0.00001
|
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)
|
rs542969966
|
0.00001
|
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
|
rs755263405
|
0.00001
|
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
|
rs756233137
|
0.00001
|
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
|
rs1712193715
|
0.00001
|
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
|
rs766550125
|
0.00001
|
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
|
rs138564183
|
0.00001
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
|
rs765589827
|
0.00001
|
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)
|
rs140725570
|
0.00001
|
NM_001041.4(SI):c.3423+11A>G
|
rs770815174
|
0.00001
|
NM_001041.4(SI):c.3423+3A>G
|
rs766943944
|
0.00001
|
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)
|
rs966189337
|
0.00001
|
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)
|
rs753519683
|
0.00001
|
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
|
rs761717351
|
0.00001
|
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)
|
rs796683088
|
0.00001
|
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
|
rs772347173
|
0.00001
|
NM_001041.4(SI):c.580G>T (p.Val194Phe)
|
rs371768147
|
0.00001
|
NM_001041.4(SI):c.59T>A (p.Val20Asp)
|
rs771580575
|
0.00001
|
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
|
rs377040463
|
0.00001
|
NM_001041.4(SI):c.952G>A (p.Gly318Ser)
|
rs749095854
|
0.00001
|
NM_001041.4(SI):c.963G>A (p.Leu321=)
|
rs562469691
|
0.00001
|
NM_001042413.2(GLIS3):c.*216A>G
|
rs1050987299
|
0.00001
|
NM_001042413.2(GLIS3):c.*30G>A
|
rs377136249
|
0.00001
|
NM_001042413.2(GLIS3):c.*391C>T
|
rs886063951
|
0.00001
|
NM_001042413.2(GLIS3):c.*3934A>G
|
rs949789457
|
0.00001
|
NM_001042413.2(GLIS3):c.*963T>C
|
rs886063948
|
0.00001
|
NM_001042413.2(GLIS3):c.-419T>C
|
rs1816953765
|
0.00001
|
NM_001042413.2(GLIS3):c.1210C>A (p.Gln404Lys)
|
rs751660790
|
0.00001
|
NM_001042413.2(GLIS3):c.125C>T (p.Pro42Leu)
|
rs199506457
|
0.00001
|
NM_001042413.2(GLIS3):c.1287G>C (p.Lys429Asn)
|
rs765583144
|
0.00001
|
NM_001042413.2(GLIS3):c.1416G>T (p.Glu472Asp)
|
rs772552747
|
0.00001
|
NM_001042413.2(GLIS3):c.1526C>T (p.Ala509Val)
|
rs776030305
|
0.00001
|
NM_001042413.2(GLIS3):c.1723G>A (p.Glu575Lys)
|
rs780390959
|
0.00001
|
NM_001042413.2(GLIS3):c.2110G>A (p.Gly704Arg)
|
rs886063953
|
0.00001
|
NM_001042413.2(GLIS3):c.220G>A (p.Val74Met)
|
rs768657630
|
0.00001
|
NM_001042413.2(GLIS3):c.2350G>C (p.Ala784Pro)
|
rs754312328
|
0.00001
|
NM_001042413.2(GLIS3):c.2503C>G (p.Pro835Ala)
|
rs753899353
|
0.00001
|
NM_001042413.2(GLIS3):c.2656+3G>A
|
rs745879337
|
0.00001
|
NM_001042413.2(GLIS3):c.590A>T (p.Asp197Val)
|
rs761151597
|
0.00001
|
NM_001042413.2(GLIS3):c.596+6A>C
|
rs772180668
|
0.00001
|
NM_001042413.2(GLIS3):c.758G>T (p.Ser253Ile)
|
rs372326856
|
0.00001
|
NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)
|
rs151316420
|
0.00001
|
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys)
|
rs767747402
|
0.00001
|
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)
|
rs587780085
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)
|
rs763273196
|
0.00001
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp)
|
rs752114814
|
0.00001
|
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)
|
rs147487160
|
0.00001
|
NM_001080467.3(MYO5B):c.*205A>C
|
rs886053871
|
0.00001
|
NM_001080467.3(MYO5B):c.*2259G>A
|
rs886053857
|
0.00001
|
NM_001080467.3(MYO5B):c.*2511G>T
|
rs796631271
|
0.00001
|
NM_001080467.3(MYO5B):c.*335T>C
|
rs570544509
|
0.00001
|
NM_001080467.3(MYO5B):c.*3428T>C
|
rs1190572023
|
0.00001
|
NM_001080467.3(MYO5B):c.*3640A>G
|
rs1331960796
|
0.00001
|
NM_001080467.3(MYO5B):c.-108C>T
|
rs1256314507
|
0.00001
|
NM_001080467.3(MYO5B):c.-176G>T
|
rs886053883
|
0.00001
|
NM_001080467.3(MYO5B):c.1077C>A (p.Ser359Arg)
|
rs755460184
|
0.00001
|
NM_001080467.3(MYO5B):c.1287G>A (p.Lys429=)
|
rs776027486
|
0.00001
|
NM_001080467.3(MYO5B):c.1302C>T (p.Ile434=)
|
rs776785214
|
0.00001
|
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser)
|
rs1315323909
|
0.00001
|
NM_001080467.3(MYO5B):c.1591C>T (p.Arg531Trp)
|
rs374618270
|
0.00001
|
NM_001080467.3(MYO5B):c.2326C>T (p.Arg776Trp)
|
rs201966606
|
0.00001
|
NM_001080467.3(MYO5B):c.2479A>G (p.Arg827Gly)
|
rs1291391204
|
0.00001
|
NM_001080467.3(MYO5B):c.2579T>A (p.Met860Lys)
|
rs539079604
|
0.00001
|
NM_001080467.3(MYO5B):c.275G>A (p.Arg92His)
|
rs202205346
|
0.00001
|
NM_001080467.3(MYO5B):c.2966G>A (p.Arg989His)
|
rs747276755
|
0.00001
|
NM_001080467.3(MYO5B):c.3418G>A (p.Ala1140Thr)
|
rs1364064267
|
0.00001
|
NM_001080467.3(MYO5B):c.3892G>T (p.Val1298Phe)
|
rs200181910
|
0.00001
|
NM_001080467.3(MYO5B):c.3945-9T>A
|
rs759789311
|
0.00001
|
NM_001080467.3(MYO5B):c.4033G>A (p.Ala1345Thr)
|
rs755338257
|
0.00001
|
NM_001080467.3(MYO5B):c.4123C>G (p.Gln1375Glu)
|
rs765059688
|
0.00001
|
NM_001080467.3(MYO5B):c.4202G>A (p.Arg1401Gln)
|
rs199722479
|
0.00001
|
NM_001080467.3(MYO5B):c.4611+2T>C
|
rs757745239
|
0.00001
|
NM_001080467.3(MYO5B):c.648C>T (p.Asn216=)
|
rs779466520
|
0.00001
|
NM_001080467.3(MYO5B):c.808G>A (p.Gly270Ser)
|
rs1047868917
|
0.00001
|
NM_001080467.3(MYO5B):c.9G>A (p.Val3=)
|
rs538674235
|
0.00001
|
NM_001109809.5(ZFP57):c.1230G>A (p.Pro410=)
|
rs578187010
|
0.00001
|
NM_001109809.5(ZFP57):c.798G>A (p.Lys266=)
|
rs886061285
|
0.00001
|
NM_001109809.5(ZFP57):c.826C>T (p.Arg276Cys)
|
rs552912198
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.4474+3G>T
|
rs1286863443
|
0.00001
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)
|
rs909387820
|
0.00001
|
NM_001122659.3(EDNRB):c.*1860T>G
|
rs886050321
|
0.00001
|
NM_001122659.3(EDNRB):c.*2292A>C
|
rs759340051
|
0.00001
|
NM_001122659.3(EDNRB):c.*575A>G
|
rs1320252107
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys)
|
rs750396591
|
0.00001
|
NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu)
|
rs201002254
|
0.00001
|
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)
|
rs760677132
|
0.00001
|
NM_001122659.3(EDNRB):c.483+15C>T
|
rs936183003
|
0.00001
|
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val)
|
rs1212186974
|
0.00001
|
NM_001122764.3(PPOX):c.-180T>C
|
rs886045450
|
0.00001
|
NM_001122764.3(PPOX):c.-2G>T
|
rs779526273
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_001122764.3(PPOX):c.597G>T (p.Leu199=)
|
rs769659160
|
0.00001
|
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val)
|
rs758572020
|
0.00001
|
NM_001122955.4(BSCL2):c.969G>T (p.Trp323Cys)
|
rs1444410995
|
0.00001
|
NM_001166108.2(PALLD):c.*110G>C
|
rs577454433
|
0.00001
|
NM_001166108.2(PALLD):c.*127C>G
|
rs1306250811
|
0.00001
|
NM_001166108.2(PALLD):c.*135C>T
|
rs1314886283
|
0.00001
|
NM_001166108.2(PALLD):c.*1787T>C
|
rs886059215
|
0.00001
|
NM_001166108.2(PALLD):c.*185G>T
|
rs1032243256
|
0.00001
|
NM_001166108.2(PALLD):c.*2166A>G
|
rs886059220
|
0.00001
|
NM_001166108.2(PALLD):c.*33C>A
|
rs569054006
|
0.00001
|
NM_001166108.2(PALLD):c.*77C>T
|
rs1060502976
|
0.00001
|
NM_001166108.2(PALLD):c.-172C>A
|
rs777479051
|
0.00001
|
NM_001166108.2(PALLD):c.-178G>A
|
rs886059207
|
0.00001
|
NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg)
|
rs889514388
|
0.00001
|
NM_001166108.2(PALLD):c.1129A>G (p.Lys377Glu)
|
rs368684220
|
0.00001
|
NM_001166108.2(PALLD):c.1219A>T (p.Thr407Ser)
|
rs775730191
|
0.00001
|
NM_001166108.2(PALLD):c.1260+8T>C
|
rs887513464
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12534C>A
|
rs1162490423
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12544A>G
|
rs1244776142
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12579C>T
|
rs1009236606
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12597C>A
|
rs1221751077
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12671G>A
|
rs1048578217
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12687C>T
|
rs1201472346
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12697C>T
|
rs1752078843
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12699C>T
|
rs1752078030
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12702T>G
|
rs1560840468
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12708T>G
|
rs1281589180
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12709T>C
|
rs1043636321
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12813T>C
|
rs1290110172
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12837C>G
|
rs1581871066
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12850T>G
|
rs957770223
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12931C>T
|
rs1452134652
|
0.00001
|
NM_001166108.2(PALLD):c.2008G>A (p.Asp670Asn)
|
rs767729090
|
0.00001
|
NM_001166108.2(PALLD):c.2012A>T (p.Glu671Val)
|
rs753140123
|
0.00001
|
NM_001166108.2(PALLD):c.2057G>A (p.Arg686Gln)
|
rs1031710807
|
0.00001
|
NM_001166108.2(PALLD):c.2099C>T (p.Pro700Leu)
|
rs1255873290
|
0.00001
|
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr)
|
rs775439441
|
0.00001
|
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu)
|
rs768485147
|
0.00001
|
NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr)
|
rs1553969553
|
0.00001
|
NM_001166108.2(PALLD):c.2199+4C>T
|
rs1060502973
|
0.00001
|
NM_001166108.2(PALLD):c.222C>T (p.Ser74=)
|
rs201038000
|
0.00001
|
NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys)
|
rs759161069
|
0.00001
|
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr)
|
rs763802548
|
0.00001
|
NM_001166108.2(PALLD):c.2333G>T (p.Gly778Val)
|
rs864622234
|
0.00001
|
NM_001166108.2(PALLD):c.2340A>C (p.Glu780Asp)
|
rs1431975703
|
0.00001
|
NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr)
|
rs759105985
|
0.00001
|
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn)
|
rs746329925
|
0.00001
|
NM_001166108.2(PALLD):c.2626C>T (p.Arg876Cys)
|
rs764242515
|
0.00001
|
NM_001166108.2(PALLD):c.2678G>A (p.Arg893Gln)
|
rs747702421
|
0.00001
|
NM_001166108.2(PALLD):c.2693C>T (p.Pro898Leu)
|
rs1216822754
|
0.00001
|
NM_001166108.2(PALLD):c.2704C>T (p.Pro902Ser)
|
rs114673468
|
0.00001
|
NM_001166108.2(PALLD):c.2722C>T (p.Arg908Cys)
|
rs369054918
|
0.00001
|
NM_001166108.2(PALLD):c.2740A>G (p.Ser914Gly)
|
rs950480850
|
0.00001
|
NM_001166108.2(PALLD):c.2761A>G (p.Ile921Val)
|
rs375970126
|
0.00001
|
NM_001166108.2(PALLD):c.2764C>G (p.Gln922Glu)
|
rs960430324
|
0.00001
|
NM_001166108.2(PALLD):c.2771G>A (p.Arg924Gln)
|
rs755336512
|
0.00001
|
NM_001166108.2(PALLD):c.2812A>T (p.Thr938Ser)
|
rs1171944020
|
0.00001
|
NM_001166108.2(PALLD):c.2858G>A (p.Gly953Glu)
|
rs753316618
|
0.00001
|
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile)
|
rs371498362
|
0.00001
|
NM_001166108.2(PALLD):c.2884C>G (p.Gln962Glu)
|
rs1271164196
|
0.00001
|
NM_001166108.2(PALLD):c.2899C>T (p.Pro967Ser)
|
rs1176026649
|
0.00001
|
NM_001166108.2(PALLD):c.2902G>A (p.Val968Ile)
|
rs551420048
|
0.00001
|
NM_001166108.2(PALLD):c.2906G>A (p.Arg969His)
|
rs769973229
|
0.00001
|
NM_001166108.2(PALLD):c.2914A>G (p.Ser972Gly)
|
rs774568391
|
0.00001
|
NM_001166108.2(PALLD):c.3076C>A (p.Pro1026Thr)
|
rs762353255
|
0.00001
|
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys)
|
rs548068667
|
0.00001
|
NM_001166108.2(PALLD):c.3146G>A (p.Arg1049His)
|
rs755223646
|
0.00001
|
NM_001166108.2(PALLD):c.3238A>C (p.Asn1080His)
|
rs771536528
|
0.00001
|
NM_001166108.2(PALLD):c.3254G>A (p.Cys1085Tyr)
|
rs771679229
|
0.00001
|
NM_001166108.2(PALLD):c.3282A>T (p.Glu1094Asp)
|
rs1447433925
|
0.00001
|
NM_001166108.2(PALLD):c.3352G>A (p.Val1118Ile)
|
rs781065277
|
0.00001
|
NM_001166108.2(PALLD):c.836G>C (p.Ser279Thr)
|
rs886059209
|
0.00001
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
0.00001
|
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)
|
rs760085736
|
0.00001
|
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)
|
rs1212671249
|
0.00001
|
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)
|
rs750610809
|
0.00001
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr)
|
rs551874512
|
0.00001
|
NM_001289104.2(PRKCSH):c.*321A>G
|
rs1445983867
|
0.00001
|
NM_001289104.2(PRKCSH):c.-105T>C
|
rs886054196
|
0.00001
|
NM_001289104.2(PRKCSH):c.1197-14G>A
|
rs141301073
|
0.00001
|
NM_001289104.2(PRKCSH):c.702G>A (p.Leu234=)
|
rs886054198
|
0.00001
|
NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu)
|
rs778138658
|
0.00001
|
NM_001348946.2(ABCB1):c.480A>G (p.Ile160Met)
|
rs200823786
|
0.00001
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
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.-8-2223G>T
|
rs764563350
|
0.00001
|
NM_001370466.1(NOD2):c.-8-2223del
|
rs1213629611
|
0.00001
|
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe)
|
rs104895470
|
0.00001
|
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr)
|
rs777343284
|
0.00001
|
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys)
|
rs367883043
|
0.00001
|
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys)
|
rs545466982
|
0.00001
|
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly)
|
rs768389547
|
0.00001
|
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val)
|
rs776802746
|
0.00001
|
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp)
|
rs1361409611
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His)
|
rs540122692
|
0.00001
|
NM_001370466.1(NOD2):c.1478A>G (p.His493Arg)
|
rs757269951
|
0.00001
|
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr)
|
rs1283801598
|
0.00001
|
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met)
|
rs760678831
|
0.00001
|
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr)
|
rs747674172
|
0.00001
|
NM_001370466.1(NOD2):c.179G>A (p.Arg60His)
|
rs983465914
|
0.00001
|
NM_001370466.1(NOD2):c.1802A>G (p.His601Arg)
|
rs746653187
|
0.00001
|
NM_001370466.1(NOD2):c.185T>A (p.Leu62Gln)
|
rs1286052486
|
0.00001
|
NM_001370466.1(NOD2):c.1879G>A (p.Gly627Arg)
|
rs777290315
|
0.00001
|
NM_001370466.1(NOD2):c.188A>T (p.Asp63Val)
|
rs747221457
|
0.00001
|
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)
|
rs369957746
|
0.00001
|
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg)
|
rs371339573
|
0.00001
|
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter)
|
rs761449474
|
0.00001
|
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter)
|
rs755721919
|
0.00001
|
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter)
|
rs776701942
|
0.00001
|
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln)
|
rs751849531
|
0.00001
|
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys)
|
rs757403209
|
0.00001
|
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp)
|
rs749720540
|
0.00001
|
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val)
|
rs104895442
|
0.00001
|
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys)
|
rs3813758
|
0.00001
|
NM_001370466.1(NOD2):c.220C>G (p.Gln74Glu)
|
rs753619374
|
0.00001
|
NM_001370466.1(NOD2):c.2297T>C (p.Val766Ala)
|
rs1200152449
|
0.00001
|
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter)
|
rs1567380372
|
0.00001
|
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met)
|
rs748522514
|
0.00001
|
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser)
|
rs746692864
|
0.00001
|
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His)
|
rs768930237
|
0.00001
|
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly)
|
rs778481419
|
0.00001
|
NM_001370466.1(NOD2):c.2413A>T (p.Ile805Phe)
|
rs765335094
|
0.00001
|
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser)
|
rs757680896
|
0.00001
|
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)
|
rs146313066
|
0.00001
|
NM_001370466.1(NOD2):c.2444G>A (p.Cys815Tyr)
|
rs754471017
|
0.00001
|
NM_001370466.1(NOD2):c.2445C>T (p.Cys815=)
|
rs778447050
|
0.00001
|
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser)
|
rs201806207
|
0.00001
|
NM_001370466.1(NOD2):c.2553G>A (p.Leu851=)
|
rs1283225496
|
0.00001
|
NM_001370466.1(NOD2):c.2575G>A (p.Ala859Thr)
|
rs376366287
|
0.00001
|
NM_001370466.1(NOD2):c.2576C>T (p.Ala859Val)
|
rs565200911
|
0.00001
|
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys)
|
rs201884393
|
0.00001
|
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter)
|
rs769101191
|
0.00001
|
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe)
|
rs199552944
|
0.00001
|
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala)
|
rs779300567
|
0.00001
|
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)
|
rs758913334
|
0.00001
|
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val)
|
rs771833402
|
0.00001
|
NM_001370466.1(NOD2):c.278A>G (p.His93Arg)
|
rs959869589
|
0.00001
|
NM_001370466.1(NOD2):c.2816A>G (p.His939Arg)
|
rs189453919
|
0.00001
|
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly)
|
rs371389581
|
0.00001
|
NM_001370466.1(NOD2):c.2885+6G>T
|
rs546478048
|
0.00001
|
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)
|
rs1306240431
|
0.00001
|
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val)
|
rs772487940
|
0.00001
|
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro)
|
rs199883290
|
0.00001
|
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe)
|
rs761083670
|
0.00001
|
NM_001370466.1(NOD2):c.295C>G (p.His99Asp)
|
rs781448444
|
0.00001
|
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe)
|
rs146435555
|
0.00001
|
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His)
|
rs1451481984
|
0.00001
|
NM_001370466.1(NOD2):c.314G>A (p.Arg105Gln)
|
rs781540619
|
0.00001
|
NM_001370466.1(NOD2):c.323A>G (p.Gln108Arg)
|
rs770240116
|
0.00001
|
NM_001370466.1(NOD2):c.334C>T (p.Pro112Ser)
|
rs749841667
|
0.00001
|
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp)
|
rs562557464
|
0.00001
|
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln)
|
rs150996156
|
0.00001
|
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)
|
rs1292846110
|
0.00001
|
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu)
|
rs144368009
|
0.00001
|
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu)
|
rs141414002
|
0.00001
|
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln)
|
rs757914381
|
0.00001
|
NM_001370466.1(NOD2):c.565+1G>A
|
rs766614906
|
0.00001
|
NM_001370466.1(NOD2):c.565+4G>A
|
rs776802652
|
0.00001
|
NM_001370466.1(NOD2):c.658T>C (p.Cys220Arg)
|
rs764675751
|
0.00001
|
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe)
|
rs752210177
|
0.00001
|
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe)
|
rs1267341301
|
0.00001
|
NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr)
|
rs1307391583
|
0.00001
|
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp)
|
rs753537879
|
0.00001
|
NM_001370466.1(NOD2):c.986C>T (p.Pro329Leu)
|
rs201107567
|
0.00001
|
NM_001374385.1(ATP8B1):c.*1546A>C
|
rs1383423114
|
0.00001
|
NM_001374385.1(ATP8B1):c.*506G>A
|
rs1054288138
|
0.00001
|
NM_001374385.1(ATP8B1):c.*899C>T
|
rs887562438
|
0.00001
|
NM_001374385.1(ATP8B1):c.-35C>A
|
rs886054015
|
0.00001
|
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=)
|
rs1179570288
|
0.00001
|
NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=)
|
rs780518569
|
0.00001
|
NM_001374385.1(ATP8B1):c.1429+14G>A
|
rs886054012
|
0.00001
|
NM_001374385.1(ATP8B1):c.1819+10C>T
|
rs767885426
|
0.00001
|
NM_001374385.1(ATP8B1):c.1933-12T>A
|
rs758782679
|
0.00001
|
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)
|
rs1555689790
|
0.00001
|
NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys)
|
rs757090822
|
0.00001
|
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)
|
rs745546266
|
0.00001
|
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)
|
rs199716374
|
0.00001
|
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=)
|
rs758180192
|
0.00001
|
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)
|
rs752757689
|
0.00001
|
NM_001374385.1(ATP8B1):c.2968G>A (p.Val990Met)
|
rs747325752
|
0.00001
|
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)
|
rs140005450
|
0.00001
|
NM_001374385.1(ATP8B1):c.340G>C (p.Glu114Gln)
|
rs753142591
|
0.00001
|
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)
|
rs778786114
|
0.00001
|
NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser)
|
rs774849132
|
0.00001
|
NM_001374385.1(ATP8B1):c.394-7C>T
|
rs370252509
|
0.00001
|
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn)
|
rs372749108
|
0.00001
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
NM_001379610.1(SPINK1):c.109A>C (p.Asn37His)
|
rs761739859
|
0.00001
|
NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu)
|
rs772387015
|
0.00001
|
NM_001379610.1(SPINK1):c.14G>A (p.Gly5Asp)
|
rs759869911
|
0.00001
|
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met)
|
rs781162491
|
0.00001
|
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)
|
rs1261616345
|
0.00001
|
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp)
|
rs536203389
|
0.00001
|
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)
|
rs515726208
|
0.00001
|
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)
|
rs576564400
|
0.00001
|
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile)
|
rs1163281900
|
0.00001
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly)
|
rs375368064
|
0.00001
|
NM_001379610.1(SPINK1):c.8T>C (p.Val3Ala)
|
rs768306142
|
0.00001
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
NM_001386140.1(MTTP):c.*1018G>A
|
rs1036088923
|
0.00001
|
NM_001386140.1(MTTP):c.*184G>A
|
rs146172944
|
0.00001
|
NM_001386140.1(MTTP):c.*490_*494del
|
rs886058963
|
0.00001
|
NM_001386140.1(MTTP):c.*668A>G
|
rs1021704277
|
0.00001
|
NM_001386140.1(MTTP):c.-20G>A
|
rs752823787
|
0.00001
|
NM_001386140.1(MTTP):c.-28T>C
|
rs886058956
|
0.00001
|
NM_001386140.1(MTTP):c.-54C>T
|
rs181769817
|
0.00001
|
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)
|
rs138544271
|
0.00001
|
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)
|
rs765712127
|
0.00001
|
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)
|
rs368711749
|
0.00001
|
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu)
|
rs780688378
|
0.00001
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)
|
rs1159084242
|
0.00001
|
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)
|
rs1309109456
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)
|
rs149228079
|
0.00001
|
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)
|
rs752590883
|
0.00001
|
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)
|
rs572336571
|
0.00001
|
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)
|
rs1459889971
|
0.00001
|
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)
|
rs774949603
|
0.00001
|
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)
|
rs1283368181
|
0.00001
|
NM_001386140.1(MTTP):c.393+5A>G
|
rs771577895
|
0.00001
|
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val)
|
rs1252692732
|
0.00001
|
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg)
|
rs746001155
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_001386140.1(MTTP):c.756G>A (p.Ser252=)
|
rs750749323
|
0.00001
|
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)
|
rs1428463955
|
0.00001
|
NM_001386140.1(MTTP):c.863C>A (p.Pro288His)
|
rs1022457887
|
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.1002G>C (p.Gln334His)
|
rs758119534
|
0.00001
|
NM_001558.4(IL10RA):c.1019C>T (p.Pro340Leu)
|
rs969779145
|
0.00001
|
NM_001558.4(IL10RA):c.1103C>T (p.Thr368Ile)
|
rs568487189
|
0.00001
|
NM_001558.4(IL10RA):c.1118G>T (p.Cys373Phe)
|
rs1342686509
|
0.00001
|
NM_001558.4(IL10RA):c.1139G>A (p.Ser380Asn)
|
rs2058074890
|
0.00001
|
NM_001558.4(IL10RA):c.1165C>A (p.Gln389Lys)
|
rs746168445
|
0.00001
|
NM_001558.4(IL10RA):c.1166A>T (p.Gln389Leu)
|
rs772645232
|
0.00001
|
NM_001558.4(IL10RA):c.1174G>A (p.Gly392Arg)
|
rs1031597162
|
0.00001
|
NM_001558.4(IL10RA):c.1250A>G (p.Gln417Arg)
|
rs778369288
|
0.00001
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
NM_001558.4(IL10RA):c.1399T>C (p.Ser467Pro)
|
rs2058077626
|
0.00001
|
NM_001558.4(IL10RA):c.1408A>G (p.Thr470Ala)
|
rs528243258
|
0.00001
|
NM_001558.4(IL10RA):c.1631A>T (p.Asp544Val)
|
rs550530605
|
0.00001
|
NM_001558.4(IL10RA):c.184C>A (p.Leu62Met)
|
rs1446614429
|
0.00001
|
NM_001558.4(IL10RA):c.188+3G>A
|
rs780334422
|
0.00001
|
NM_001558.4(IL10RA):c.274C>T (p.His92Tyr)
|
rs1333934613
|
0.00001
|
NM_001558.4(IL10RA):c.290G>A (p.Arg97Gln)
|
rs752043400
|
0.00001
|
NM_001558.4(IL10RA):c.319C>T (p.Arg107Trp)
|
rs747009132
|
0.00001
|
NM_001558.4(IL10RA):c.447G>A (p.Lys149=)
|
rs750580462
|
0.00001
|
NM_001558.4(IL10RA):c.473A>G (p.Glu158Gly)
|
rs748829818
|
0.00001
|
NM_001558.4(IL10RA):c.515G>A (p.Arg172His)
|
rs769225123
|
0.00001
|
NM_001558.4(IL10RA):c.517A>G (p.Lys173Glu)
|
rs1213366682
|
0.00001
|
NM_001558.4(IL10RA):c.524C>T (p.Pro175Leu)
|
rs149837909
|
0.00001
|
NM_001558.4(IL10RA):c.538T>G (p.Phe180Val)
|
rs759799794
|
0.00001
|
NM_001558.4(IL10RA):c.628G>A (p.Ala210Thr)
|
rs779757879
|
0.00001
|
NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu)
|
rs755758777
|
0.00001
|
NM_001558.4(IL10RA):c.810+11C>T
|
rs763760161
|
0.00001
|
NM_001558.4(IL10RA):c.818A>G (p.Lys273Arg)
|
rs750798173
|
0.00001
|
NM_001558.4(IL10RA):c.896A>T (p.Glu299Val)
|
rs1241295240
|
0.00001
|
NM_001558.4(IL10RA):c.975G>C (p.Lys325Asn)
|
rs375357983
|
0.00001
|
NM_001613.4(ACTA2):c.*43A>G
|
rs886047452
|
0.00001
|
NM_001613.4(ACTA2):c.-56C>T
|
rs886047454
|
0.00001
|
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)
|
rs886047453
|
0.00001
|
NM_001613.4(ACTA2):c.258+5G>T
|
rs1304133915
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)
|
rs772473154
|
0.00001
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
NM_001613.4(ACTA2):c.808+14G>A
|
rs774120023
|
0.00001
|
NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp)
|
rs1573477749
|
0.00001
|
NM_001626.6(AKT2):c.1036G>A (p.Gly346Ser)
|
rs1169786300
|
0.00001
|
NM_001626.6(AKT2):c.1069C>T (p.Arg357Cys)
|
rs1026908617
|
0.00001
|
NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys)
|
rs757239082
|
0.00001
|
NM_001626.6(AKT2):c.268G>A (p.Val90Met)
|
rs1160079555
|
0.00001
|
NM_001626.6(AKT2):c.337C>T (p.Arg113Trp)
|
rs1054914884
|
0.00001
|
NM_001626.6(AKT2):c.757C>T (p.Arg253Trp)
|
rs781527200
|
0.00001
|
NM_001715.2(BLK):c.-267C>T
|
rs886062591
|
0.00001
|
NM_001715.2(BLK):c.-375G>A
|
rs886062590
|
0.00001
|
NM_001715.2(BLK):c.-484G>A
|
rs761744676
|
0.00001
|
NM_001715.3(BLK):c.*366G>A
|
rs977140703
|
0.00001
|
NM_001715.3(BLK):c.*461G>A
|
rs1204192053
|
0.00001
|
NM_001715.3(BLK):c.1046C>T (p.Ala349Val)
|
rs759976637
|
0.00001
|
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)
|
rs142803179
|
0.00001
|
NM_001715.3(BLK):c.1252G>A (p.Val418Met)
|
rs373565757
|
0.00001
|
NM_001715.3(BLK):c.1308C>T (p.Tyr436=)
|
rs886062596
|
0.00001
|
NM_001715.3(BLK):c.677A>C (p.Gln226Pro)
|
rs551088779
|
0.00001
|
NM_001715.3(BLK):c.892C>T (p.Arg298Ter)
|
rs745877998
|
0.00001
|
NM_001753.5(CAV1):c.43A>G (p.Thr15Ala)
|
rs760934779
|
0.00001
|
NM_001807.6(CEL):c.217+34C>T
|
rs778382071
|
0.00001
|
NM_001868.4(CPA1):c.1022C>A (p.Ala341Asp)
|
rs1374839239
|
0.00001
|
NM_001868.4(CPA1):c.1112A>G (p.Gln371Arg)
|
rs781853343
|
0.00001
|
NM_001868.4(CPA1):c.1144C>T (p.Arg382Trp)
|
rs782689631
|
0.00001
|
NM_001868.4(CPA1):c.1157G>A (p.Arg386His)
|
rs782338563
|
0.00001
|
NM_001868.4(CPA1):c.1258T>C (p.Ter420Arg)
|
rs782257247
|
0.00001
|
NM_001868.4(CPA1):c.148-4C>T
|
rs532631461
|
0.00001
|
NM_001868.4(CPA1):c.201G>T (p.Val67=)
|
rs559471767
|
0.00001
|
NM_001868.4(CPA1):c.221C>T (p.Ala74Val)
|
rs149470727
|
0.00001
|
NM_001868.4(CPA1):c.284C>T (p.Ser95Leu)
|
rs375929600
|
0.00001
|
NM_001868.4(CPA1):c.322C>T (p.Arg108Trp)
|
rs141886698
|
0.00001
|
NM_001868.4(CPA1):c.346A>G (p.Thr116Ala)
|
rs368581566
|
0.00001
|
NM_001868.4(CPA1):c.397G>C (p.Asp133His)
|
rs1375640783
|
0.00001
|
NM_001868.4(CPA1):c.401T>G (p.Leu134Arg)
|
rs781977220
|
0.00001
|
NM_001868.4(CPA1):c.40G>C (p.Val14Leu)
|
rs1378007993
|
0.00001
|
NM_001868.4(CPA1):c.446G>C (p.Gly149Ala)
|
rs782168130
|
0.00001
|
NM_001868.4(CPA1):c.4C>T (p.Arg2Trp)
|
rs541913287
|
0.00001
|
NM_001868.4(CPA1):c.607G>A (p.Asp203Asn)
|
rs782589138
|
0.00001
|
NM_001868.4(CPA1):c.66-11A>T
|
rs782638392
|
0.00001
|
NM_001868.4(CPA1):c.686C>T (p.Thr229Met)
|
rs781815975
|
0.00001
|
NM_001868.4(CPA1):c.692G>A (p.Ser231Asn)
|
rs782577921
|
0.00001
|
NM_001868.4(CPA1):c.696+5C>T
|
rs528877594
|
0.00001
|
NM_001868.4(CPA1):c.751G>A (p.Val251Met)
|
rs782158803
|
0.00001
|
NM_001868.4(CPA1):c.793G>A (p.Gly265Arg)
|
rs782588903
|
0.00001
|
NM_001868.4(CPA1):c.796G>C (p.Ala266Pro)
|
rs1321257803
|
0.00001
|
NM_001868.4(CPA1):c.80G>A (p.Arg27Gln)
|
rs547564304
|
0.00001
|
NM_001868.4(CPA1):c.820A>G (p.Thr274Ala)
|
rs781990114
|
0.00001
|
NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu)
|
rs773771416
|
0.00001
|
NM_002299.4(LCT):c.1902C>T (p.Pro634=)
|
rs202014246
|
0.00001
|
NM_002299.4(LCT):c.2177G>A (p.Arg726His)
|
rs886054866
|
0.00001
|
NM_002299.4(LCT):c.319G>A (p.Glu107Lys)
|
rs761296720
|
0.00001
|
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met)
|
rs148317168
|
0.00001
|
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala)
|
rs557029000
|
0.00001
|
NM_002299.4(LCT):c.5529C>T (p.Pro1843=)
|
rs761696901
|
0.00001
|
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala)
|
rs886054861
|
0.00001
|
NM_002299.4(LCT):c.643G>A (p.Gly215Arg)
|
rs886054869
|
0.00001
|
NM_002303.6(LEPR):c.1139A>G (p.Gln380Arg)
|
rs751025808
|
0.00001
|
NM_002303.6(LEPR):c.1292A>G (p.Asn431Ser)
|
rs937591370
|
0.00001
|
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys)
|
rs184945579
|
0.00001
|
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)
|
rs777314081
|
0.00001
|
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp)
|
rs371690402
|
0.00001
|
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met)
|
rs370901051
|
0.00001
|
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser)
|
rs771268909
|
0.00001
|
NM_002335.4(LRP5):c.1484G>A (p.Arg495His)
|
rs200409162
|
0.00001
|
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys)
|
rs745350421
|
0.00001
|
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr)
|
rs1045994595
|
0.00001
|
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr)
|
rs747131775
|
0.00001
|
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile)
|
rs543279405
|
0.00001
|
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala)
|
rs1339222045
|
0.00001
|
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu)
|
rs751720886
|
0.00001
|
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu)
|
rs765603774
|
0.00001
|
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val)
|
rs758364834
|
0.00001
|
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser)
|
rs776947784
|
0.00001
|
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln)
|
rs774814837
|
0.00001
|
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn)
|
rs768364811
|
0.00001
|
NM_002335.4(LRP5):c.2648A>G (p.Gln883Arg)
|
rs2098660959
|
0.00001
|
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser)
|
rs773895575
|
0.00001
|
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser)
|
rs771724060
|
0.00001
|
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile)
|
rs577519439
|
0.00001
|
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val)
|
rs761682970
|
0.00001
|
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln)
|
rs371323193
|
0.00001
|
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys)
|
rs1433868957
|
0.00001
|
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser)
|
rs770787447
|
0.00001
|
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr)
|
rs776839535
|
0.00001
|
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu)
|
rs752483392
|
0.00001
|
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala)
|
rs1260043027
|
0.00001
|
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met)
|
rs1215728276
|
0.00001
|
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His)
|
rs145293239
|
0.00001
|
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp)
|
rs370347973
|
0.00001
|
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln)
|
rs760090713
|
0.00001
|
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His)
|
rs780957124
|
0.00001
|
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser)
|
rs747638441
|
0.00001
|
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn)
|
rs1257556169
|
0.00001
|
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile)
|
rs745582449
|
0.00001
|
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg)
|
rs778832210
|
0.00001
|
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln)
|
rs368198391
|
0.00001
|
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser)
|
rs778882996
|
0.00001
|
NM_002335.4(LRP5):c.441G>C (p.Trp147Cys)
|
rs748347747
|
0.00001
|
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn)
|
rs959633003
|
0.00001
|
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=)
|
rs764288902
|
0.00001
|
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val)
|
rs1371991892
|
0.00001
|
NM_002335.4(LRP5):c.4586+3A>G
|
rs374747007
|
0.00001
|
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr)
|
rs144376510
|
0.00001
|
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala)
|
rs748088266
|
0.00001
|
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val)
|
rs767157733
|
0.00001
|
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg)
|
rs773226526
|
0.00001
|
NM_002336.3(LRP6):c.1573C>G (p.Arg525Gly)
|
rs1451948552
|
0.00001
|
NM_002354.3(EPCAM):c.-192G>T
|
rs376344699
|
0.00001
|
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)
|
rs778641299
|
0.00001
|
NM_002354.3(EPCAM):c.20T>A (p.Leu7His)
|
rs878854486
|
0.00001
|
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)
|
rs587780765
|
0.00001
|
NM_002354.3(EPCAM):c.583C>G (p.Leu195Val)
|
rs770760223
|
0.00001
|
NM_002354.3(EPCAM):c.603A>G (p.Gln201=)
|
rs730882126
|
0.00001
|
NM_002354.3(EPCAM):c.612G>C (p.Gln204His)
|
rs775276504
|
0.00001
|
NM_002354.3(EPCAM):c.643T>A (p.Tyr215Asn)
|
rs750826481
|
0.00001
|
NM_002354.3(EPCAM):c.667G>C (p.Glu223Gln)
|
rs372674836
|
0.00001
|
NM_002354.3(EPCAM):c.739A>C (p.Thr247Pro)
|
rs147958220
|
0.00001
|
NM_002354.3(EPCAM):c.766G>T (p.Ala256Ser)
|
rs864622089
|
0.00001
|
NM_002354.3(EPCAM):c.76G>A (p.Glu26Lys)
|
rs764492954
|
0.00001
|
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly)
|
rs1174407076
|
0.00001
|
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu)
|
rs775927183
|
0.00001
|
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)
|
rs1015353331
|
0.00001
|
NM_002474.3(MYH11):c.1864+8C>T
|
rs1297078684
|
0.00001
|
NM_002474.3(MYH11):c.1993A>G (p.Met665Val)
|
rs2041529040
|
0.00001
|
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln)
|
rs376758800
|
0.00001
|
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp)
|
rs1275950124
|
0.00001
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
NM_002474.3(MYH11):c.2789G>A (p.Arg930His)
|
rs1025259076
|
0.00001
|
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val)
|
rs145121051
|
0.00001
|
NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys)
|
rs1357435865
|
0.00001
|
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
|
rs193922629
|
0.00001
|
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg)
|
rs558332944
|
0.00001
|
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)
|
rs771515309
|
0.00001
|
NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile)
|
rs1399080640
|
0.00001
|
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile)
|
rs763285173
|
0.00001
|
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys)
|
rs780157741
|
0.00001
|
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys)
|
rs769227102
|
0.00001
|
NM_002474.3(MYH11):c.412A>T (p.Ile138Phe)
|
rs886039133
|
0.00001
|
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn)
|
rs1085307699
|
0.00001
|
NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser)
|
rs151112745
|
0.00001
|
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile)
|
rs758663266
|
0.00001
|
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)
|
rs367746199
|
0.00001
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys)
|
rs761965886
|
0.00001
|
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)
|
rs794728680
|
0.00001
|
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)
|
rs148433586
|
0.00001
|
NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys)
|
rs764794087
|
0.00001
|
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)
|
rs761727438
|
0.00001
|
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)
|
rs1041344233
|
0.00001
|
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)
|
rs759033733
|
0.00001
|
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)
|
rs769802444
|
0.00001
|
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)
|
rs375148396
|
0.00001
|
NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter)
|
rs772670393
|
0.00001
|
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser)
|
rs1242871546
|
0.00001
|
NM_002500.4(NEUROD1):c.*1583T>C
|
rs1035423254
|
0.00001
|
NM_002500.4(NEUROD1):c.-102G>A
|
rs886055328
|
0.00001
|
NM_002500.5(NEUROD1):c.*370_*371insT
|
rs886055326
|
0.00001
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)
|
rs763871039
|
0.00001
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His)
|
rs1422349580
|
0.00001
|
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys)
|
rs1284904822
|
0.00001
|
NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr)
|
rs1057519693
|
0.00001
|
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)
|
rs765185645
|
0.00001
|
NM_002691.4(POLD1):c.674G>A (p.Arg225His)
|
rs144979965
|
0.00001
|
NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu)
|
rs775259109
|
0.00001
|
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln)
|
rs1365488828
|
0.00001
|
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu)
|
rs757111793
|
0.00001
|
NM_002769.5(PRSS1):c.261C>A (p.Phe87Leu)
|
rs767354237
|
0.00001
|
NM_002769.5(PRSS1):c.264C>G (p.Ile88Met)
|
rs199836666
|
0.00001
|
NM_002769.5(PRSS1):c.277A>T (p.Ile93Phe)
|
rs1484477439
|
0.00001
|
NM_002769.5(PRSS1):c.304A>G (p.Lys102Glu)
|
rs754618801
|
0.00001
|
NM_002769.5(PRSS1):c.38C>T (p.Ala13Val)
|
rs773357729
|
0.00001
|
NM_002769.5(PRSS1):c.40+3G>A
|
rs762998940
|
0.00001
|
NM_002769.5(PRSS1):c.455-3C>A
|
rs760226452
|
0.00001
|
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro)
|
rs776120935
|
0.00001
|
NM_002769.5(PRSS1):c.529G>A (p.Gly177Arg)
|
rs1240508430
|
0.00001
|
NM_002769.5(PRSS1):c.653A>T (p.Asp218Val)
|
rs199878511
|
0.00001
|
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)
|
rs141554682
|
0.00001
|
NM_002769.5(PRSS1):c.76G>C (p.Gly26Arg)
|
rs766579839
|
0.00001
|
NM_002772.3(TMPRSS15):c.1471G>A (p.Ala491Thr)
|
rs576287723
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.642+6G>A
|
rs1326333007
|
0.00001
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
0.00001
|
NM_003000.3(SDHB):c.73-6T>A
|
rs1252798981
|
0.00001
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
0.00001
|
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003051.4(SLC16A1):c.*1018T>G
|
rs774371594
|
0.00001
|
NM_003051.4(SLC16A1):c.*1134G>A
|
rs778106916
|
0.00001
|
NM_003051.4(SLC16A1):c.*137A>T
|
rs1223206132
|
0.00001
|
NM_003051.4(SLC16A1):c.*815G>A
|
rs556305447
|
0.00001
|
NM_003051.4(SLC16A1):c.-163T>C
|
rs886045088
|
0.00001
|
NM_003051.4(SLC16A1):c.-87C>T
|
rs886045087
|
0.00001
|
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)
|
rs756006376
|
0.00001
|
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)
|
rs17852382
|
0.00001
|
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)
|
rs1461742764
|
0.00001
|
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)
|
rs775755027
|
0.00001
|
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)
|
rs549501840
|
0.00001
|
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)
|
rs768905186
|
0.00001
|
NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser)
|
rs148983888
|
0.00001
|
NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr)
|
rs771131237
|
0.00001
|
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp)
|
rs781232281
|
0.00001
|
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg)
|
rs199755899
|
0.00001
|
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser)
|
rs1188689290
|
0.00001
|
NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val)
|
rs776562188
|
0.00001
|
NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn)
|
rs777722013
|
0.00001
|
NM_003183.6(ADAM17):c.1344+6T>C
|
rs752978791
|
0.00001
|
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe)
|
rs781773909
|
0.00001
|
NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu)
|
rs760407268
|
0.00001
|
NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly)
|
rs201743292
|
0.00001
|
NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn)
|
rs372967979
|
0.00001
|
NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val)
|
rs749866093
|
0.00001
|
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu)
|
rs752745494
|
0.00001
|
NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu)
|
rs1394373815
|
0.00001
|
NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu)
|
rs759653644
|
0.00001
|
NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys)
|
rs780557617
|
0.00001
|
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro)
|
rs1361814499
|
0.00001
|
NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val)
|
rs988994141
|
0.00001
|
NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln)
|
rs777431052
|
0.00001
|
NM_003183.6(ADAM17):c.194A>G (p.His65Arg)
|
rs774425802
|
0.00001
|
NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys)
|
rs1662107386
|
0.00001
|
NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs)
|
rs1257938701
|
0.00001
|
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser)
|
rs889062988
|
0.00001
|
NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val)
|
rs181463078
|
0.00001
|
NM_003183.6(ADAM17):c.2213G>A (p.Arg738His)
|
rs538865826
|
0.00001
|
NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn)
|
rs751381392
|
0.00001
|
NM_003183.6(ADAM17):c.231-3C>T
|
rs1394369977
|
0.00001
|
NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys)
|
rs753859098
|
0.00001
|
NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr)
|
rs1228003788
|
0.00001
|
NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys)
|
rs764050476
|
0.00001
|
NM_003183.6(ADAM17):c.2438G>A (p.Arg813His)
|
rs760757602
|
0.00001
|
NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys)
|
rs752730764
|
0.00001
|
NM_003183.6(ADAM17):c.2452G>C (p.Asp818His)
|
rs142315365
|
0.00001
|
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn)
|
rs752645542
|
0.00001
|
NM_003183.6(ADAM17):c.362-11T>C
|
rs1664944582
|
0.00001
|
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala)
|
rs770400357
|
0.00001
|
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr)
|
rs777284700
|
0.00001
|
NM_003183.6(ADAM17):c.530G>A (p.Arg177His)
|
rs763442293
|
0.00001
|
NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr)
|
rs373192089
|
0.00001
|
NM_003183.6(ADAM17):c.773T>C (p.Val258Ala)
|
rs994263495
|
0.00001
|
NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg)
|
rs1664294967
|
0.00001
|
NM_003183.6(ADAM17):c.94C>G (p.Leu32Val)
|
rs779147649
|
0.00001
|
NM_003183.6(ADAM17):c.975A>G (p.Ile325Met)
|
rs1222914560
|
0.00001
|
NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly)
|
rs779424893
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter)
|
rs745310807
|
0.00001
|
NM_003597.5(KLF11):c.*131G>A
|
rs545836068
|
0.00001
|
NM_003597.5(KLF11):c.*1463A>G
|
rs1572448681
|
0.00001
|
NM_003597.5(KLF11):c.*1636C>T
|
rs886054735
|
0.00001
|
NM_003597.5(KLF11):c.*1725G>C
|
rs374263399
|
0.00001
|
NM_003597.5(KLF11):c.*2103G>A
|
rs1056465665
|
0.00001
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
0.00001
|
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)
|
rs886054723
|
0.00001
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)
|
rs868399686
|
0.00001
|
NM_003597.5(KLF11):c.18C>T (p.Phe6=)
|
rs886054722
|
0.00001
|
NM_003597.5(KLF11):c.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)
|
rs1377863567
|
0.00001
|
NM_003597.5(KLF11):c.501C>T (p.Pro167=)
|
rs377399356
|
0.00001
|
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)
|
rs759266535
|
0.00001
|
NM_003742.4(ABCB11):c.*533C>A
|
rs886055058
|
0.00001
|
NM_003742.4(ABCB11):c.*640G>C
|
rs1351596156
|
0.00001
|
NM_003742.4(ABCB11):c.*670G>C
|
rs1469256614
|
0.00001
|
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser)
|
rs750904445
|
0.00001
|
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)
|
rs371091982
|
0.00001
|
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=)
|
rs747864916
|
0.00001
|
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=)
|
rs765678675
|
0.00001
|
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys)
|
rs770750597
|
0.00001
|
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)
|
rs1244153418
|
0.00001
|
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)
|
rs886055065
|
0.00001
|
NM_003742.4(ABCB11):c.2075+7T>A
|
rs768511849
|
0.00001
|
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)
|
rs762791891
|
0.00001
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr)
|
rs372228971
|
0.00001
|
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)
|
rs745557569
|
0.00001
|
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=)
|
rs947068240
|
0.00001
|
NM_003742.4(ABCB11):c.3057-12G>A
|
rs748204442
|
0.00001
|
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe)
|
rs773929580
|
0.00001
|
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=)
|
rs1454008881
|
0.00001
|
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)
|
rs772714766
|
0.00001
|
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala)
|
rs769192036
|
0.00001
|
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)
|
rs780956310
|
0.00001
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
NM_003742.4(ABCB11):c.681C>A (p.Thr227=)
|
rs1401834885
|
0.00001
|
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met)
|
rs886055069
|
0.00001
|
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg)
|
rs1694321895
|
0.00001
|
NM_003924.3(PHOX2B):c.-210C>A
|
rs886059414
|
0.00001
|
NM_003924.4(PHOX2B):c.*1401C>G
|
rs781647693
|
0.00001
|
NM_003924.4(PHOX2B):c.*1644A>T
|
rs886059410
|
0.00001
|
NM_003924.4(PHOX2B):c.137C>A (p.Pro46Gln)
|
rs1381435898
|
0.00001
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
0.00001
|
NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)
|
rs1477680896
|
0.00001
|
NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)
|
rs1459081022
|
0.00001
|
NM_003924.4(PHOX2B):c.29A>G (p.Asn10Ser)
|
rs1255325771
|
0.00001
|
NM_003924.4(PHOX2B):c.373A>G (p.Ile125Val)
|
rs560843362
|
0.00001
|
NM_003924.4(PHOX2B):c.429+4C>T
|
rs1173248729
|
0.00001
|
NM_003924.4(PHOX2B):c.429+6C>A
|
rs1413093395
|
0.00001
|
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)
|
rs774521395
|
0.00001
|
NM_003924.4(PHOX2B):c.497C>T (p.Ala166Val)
|
rs774521395
|
0.00001
|
NM_003924.4(PHOX2B):c.508G>C (p.Gly170Arg)
|
rs775931264
|
0.00001
|
NM_003924.4(PHOX2B):c.52A>G (p.Met18Val)
|
rs968453180
|
0.00001
|
NM_003924.4(PHOX2B):c.539G>C (p.Arg180Thr)
|
rs1395378700
|
0.00001
|
NM_003924.4(PHOX2B):c.560C>A (p.Ala187Asp)
|
rs1191400815
|
0.00001
|
NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala)
|
rs587778605
|
0.00001
|
NM_003924.4(PHOX2B):c.602A>G (p.Asn201Ser)
|
rs1018470617
|
0.00001
|
NM_003924.4(PHOX2B):c.614C>A (p.Thr205Asn)
|
rs1228610109
|
0.00001
|
NM_003924.4(PHOX2B):c.637G>A (p.Gly213Ser)
|
rs762119056
|
0.00001
|
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)
|
rs1233756366
|
0.00001
|
NM_003924.4(PHOX2B):c.661G>A (p.Ala221Thr)
|
rs746684161
|
0.00001
|
NM_003924.4(PHOX2B):c.665G>C (p.Gly222Ala)
|
rs771563787
|
0.00001
|
NM_003924.4(PHOX2B):c.667G>T (p.Ala223Ser)
|
rs747713899
|
0.00001
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
0.00001
|
NM_003924.4(PHOX2B):c.677C>A (p.Ala226Glu)
|
rs926554947
|
0.00001
|
NM_003924.4(PHOX2B):c.680C>G (p.Ala227Gly)
|
rs779913205
|
0.00001
|
NM_003924.4(PHOX2B):c.682G>A (p.Gly228Arg)
|
rs1168393338
|
0.00001
|
NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg)
|
rs1256766962
|
0.00001
|
NM_003924.4(PHOX2B):c.718G>A (p.Gly240Ser)
|
rs1183113572
|
0.00001
|
NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)
|
rs1482074468
|
0.00001
|
NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)
|
rs1060501124
|
0.00001
|
NM_003924.4(PHOX2B):c.731C>A (p.Ala244Glu)
|
rs1191194818
|
0.00001
|
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)
|
rs768420488
|
0.00001
|
NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly)
|
rs779924196
|
0.00001
|
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)
|
rs1010753155
|
0.00001
|
NM_003924.4(PHOX2B):c.797C>T (p.Ala266Val)
|
rs745709595
|
0.00001
|
NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)
|
rs1350901284
|
0.00001
|
NM_003924.4(PHOX2B):c.814G>A (p.Gly272Ser)
|
rs1232625512
|
0.00001
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
0.00001
|
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)
|
rs769663483
|
0.00001
|
NM_003924.4(PHOX2B):c.89A>T (p.Tyr30Phe)
|
rs1449660830
|
0.00001
|
NM_003924.4(PHOX2B):c.907G>C (p.Gly303Arg)
|
rs1324644005
|
0.00001
|
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)
|
rs1352110516
|
0.00001
|
NM_003924.4(PHOX2B):c.92C>G (p.Ala31Gly)
|
rs1733985532
|
0.00001
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004329.3(BMPR1A):c.*335G>T
|
rs1185798745
|
0.00001
|
NM_004329.3(BMPR1A):c.*662A>G
|
rs1288197063
|
0.00001
|
NM_004329.3(BMPR1A):c.*664C>T
|
rs886047363
|
0.00001
|
NM_004329.3(BMPR1A):c.-468G>A
|
rs1230247470
|
0.00001
|
NM_004329.3(BMPR1A):c.-500A>C
|
rs1027922647
|
0.00001
|
NM_004329.3(BMPR1A):c.-534G>A
|
rs1257043581
|
0.00001
|
NM_004329.3(BMPR1A):c.1000T>A (p.Leu334Met)
|
rs749873461
|
0.00001
|
NM_004329.3(BMPR1A):c.1013C>T (p.Ala338Val)
|
rs199476086
|
0.00001
|
NM_004329.3(BMPR1A):c.1058A>G (p.Gln353Arg)
|
rs1405441693
|
0.00001
|
NM_004329.3(BMPR1A):c.1066C>T (p.Pro356Ser)
|
rs774555805
|
0.00001
|
NM_004329.3(BMPR1A):c.1069G>A (p.Ala357Thr)
|
rs201509164
|
0.00001
|
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly)
|
rs764466442
|
0.00001
|
NM_004329.3(BMPR1A):c.1112A>C (p.Lys371Thr)
|
rs1490421596
|
0.00001
|
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile)
|
rs1060503396
|
0.00001
|
NM_004329.3(BMPR1A):c.1166G>T (p.Ser389Ile)
|
rs879254049
|
0.00001
|
NM_004329.3(BMPR1A):c.1204G>A (p.Val402Met)
|
rs1462602717
|
0.00001
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
NM_004329.3(BMPR1A):c.122A>G (p.Gln41Arg)
|
rs1363945274
|
0.00001
|
NM_004329.3(BMPR1A):c.1260C>G (p.Asn420Lys)
|
rs876660798
|
0.00001
|
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe)
|
rs758599378
|
0.00001
|
NM_004329.3(BMPR1A):c.1279A>G (p.Met427Val)
|
rs747090661
|
0.00001
|
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys)
|
rs587782496
|
0.00001
|
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)
|
rs758309022
|
0.00001
|
NM_004329.3(BMPR1A):c.1385C>T (p.Pro462Leu)
|
rs1418504897
|
0.00001
|
NM_004329.3(BMPR1A):c.1402G>A (p.Glu468Lys)
|
rs199907158
|
0.00001
|
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys)
|
rs771452619
|
0.00001
|
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His)
|
rs779371501
|
0.00001
|
NM_004329.3(BMPR1A):c.1416G>C (p.Glu472Asp)
|
rs1410256559
|
0.00001
|
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg)
|
rs767995260
|
0.00001
|
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)
|
rs372178531
|
0.00001
|
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val)
|
rs974639091
|
0.00001
|
NM_004329.3(BMPR1A):c.1456C>T (p.Arg486Trp)
|
rs767763451
|
0.00001
|
NM_004329.3(BMPR1A):c.1459T>C (p.Trp487Arg)
|
rs112883778
|
0.00001
|
NM_004329.3(BMPR1A):c.1475G>A (p.Cys492Tyr)
|
rs1256130183
|
0.00001
|
NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln)
|
rs1204089728
|
0.00001
|
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr)
|
rs369966011
|
0.00001
|
NM_004329.3(BMPR1A):c.1538C>G (p.Thr513Arg)
|
rs1201398448
|
0.00001
|
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val)
|
rs754607465
|
0.00001
|
NM_004329.3(BMPR1A):c.1559C>T (p.Thr520Met)
|
rs1179044384
|
0.00001
|
NM_004329.3(BMPR1A):c.1571T>C (p.Met524Thr)
|
rs1843703476
|
0.00001
|
NM_004329.3(BMPR1A):c.157G>A (p.Glu53Lys)
|
rs1554888119
|
0.00001
|
NM_004329.3(BMPR1A):c.168G>C (p.Leu56Phe)
|
rs1589763414
|
0.00001
|
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)
|
rs863224719
|
0.00001
|
NM_004329.3(BMPR1A):c.230+3A>G
|
rs1060503393
|
0.00001
|
NM_004329.3(BMPR1A):c.253A>G (p.Ile85Val)
|
rs374739820
|
0.00001
|
NM_004329.3(BMPR1A):c.268G>A (p.Asp90Asn)
|
rs1843160640
|
0.00001
|
NM_004329.3(BMPR1A):c.332A>G (p.Lys111Arg)
|
rs756944246
|
0.00001
|
NM_004329.3(BMPR1A):c.347C>T (p.Ala116Val)
|
rs750097648
|
0.00001
|
NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln)
|
rs864622549
|
0.00001
|
NM_004329.3(BMPR1A):c.418C>G (p.Pro140Ala)
|
rs138478597
|
0.00001
|
NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser)
|
rs138478597
|
0.00001
|
NM_004329.3(BMPR1A):c.427A>G (p.Ile143Val)
|
rs760739609
|
0.00001
|
NM_004329.3(BMPR1A):c.454C>G (p.Arg152Gly)
|
rs1131691178
|
0.00001
|
NM_004329.3(BMPR1A):c.484G>C (p.Val162Leu)
|
rs1843287316
|
0.00001
|
NM_004329.3(BMPR1A):c.490A>G (p.Ile164Val)
|
rs142965096
|
0.00001
|
NM_004329.3(BMPR1A):c.505A>C (p.Ile169Leu)
|
rs878854668
|
0.00001
|
NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro)
|
rs763554505
|
0.00001
|
NM_004329.3(BMPR1A):c.512C>G (p.Ser171Cys)
|
rs781286980
|
0.00001
|
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)
|
rs370091063
|
0.00001
|
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys)
|
rs587782231
|
0.00001
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)
|
rs1053423400
|
0.00001
|
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)
|
rs746231785
|
0.00001
|
NM_004329.3(BMPR1A):c.584A>G (p.Gln195Arg)
|
rs775295628
|
0.00001
|
NM_004329.3(BMPR1A):c.590A>C (p.Glu197Ala)
|
rs763548019
|
0.00001
|
NM_004329.3(BMPR1A):c.593C>A (p.Ala198Glu)
|
rs776160961
|
0.00001
|
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)
|
rs759014147
|
0.00001
|
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)
|
rs143248687
|
0.00001
|
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val)
|
rs750274275
|
0.00001
|
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)
|
rs876658138
|
0.00001
|
NM_004329.3(BMPR1A):c.676-3A>C
|
rs587782760
|
0.00001
|
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)
|
rs587780110
|
0.00001
|
NM_004329.3(BMPR1A):c.68-20A>G
|
rs750599523
|
0.00001
|
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val)
|
rs730881433
|
0.00001
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
NM_004329.3(BMPR1A):c.730C>G (p.Arg244Gly)
|
rs759363072
|
0.00001
|
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=)
|
rs1554890761
|
0.00001
|
NM_004329.3(BMPR1A):c.748A>T (p.Met250Leu)
|
rs762087997
|
0.00001
|
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)
|
rs1060503410
|
0.00001
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)
|
rs766908700
|
0.00001
|
NM_004329.3(BMPR1A):c.766G>A (p.Glu256Lys)
|
rs755372473
|
0.00001
|
NM_004329.3(BMPR1A):c.784G>A (p.Val262Ile)
|
rs748790017
|
0.00001
|
NM_004329.3(BMPR1A):c.785T>G (p.Val262Gly)
|
rs770830310
|
0.00001
|
NM_004329.3(BMPR1A):c.791T>C (p.Phe264Ser)
|
rs775377247
|
0.00001
|
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln)
|
rs762178061
|
0.00001
|
NM_004329.3(BMPR1A):c.841G>C (p.Val281Leu)
|
rs141625907
|
0.00001
|
NM_004329.3(BMPR1A):c.868+9A>G
|
rs766298777
|
0.00001
|
NM_004329.3(BMPR1A):c.874A>G (p.Ile292Val)
|
rs746800007
|
0.00001
|
NM_004329.3(BMPR1A):c.889A>G (p.Lys297Glu)
|
rs1589291527
|
0.00001
|
NM_004329.3(BMPR1A):c.914T>G (p.Leu305Arg)
|
rs1453306253
|
0.00001
|
NM_004329.3(BMPR1A):c.926C>G (p.Thr309Ser)
|
rs1276976514
|
0.00001
|
NM_004329.3(BMPR1A):c.93T>A (p.His31Gln)
|
rs1461705514
|
0.00001
|
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)
|
rs748515167
|
0.00001
|
NM_004329.3(BMPR1A):c.983C>G (p.Thr328Ser)
|
rs1554891053
|
0.00001
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
NM_004329.3(BMPR1A):c.995T>C (p.Leu332Pro)
|
rs1064793886
|
0.00001
|
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)
|
rs1158980679
|
0.00001
|
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)
|
rs1011563467
|
0.00001
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)
|
rs1211436028
|
0.00001
|
NM_004360.5(CDH1):c.*172A>C
|
rs886052237
|
0.00001
|
NM_004360.5(CDH1):c.*1765A>G
|
rs1343770513
|
0.00001
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
NM_004360.5(CDH1):c.1013T>C (p.Phe338Ser)
|
rs1060501219
|
0.00001
|
NM_004360.5(CDH1):c.1024A>T (p.Thr342Ser)
|
rs587782073
|
0.00001
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
NM_004360.5(CDH1):c.1073C>T (p.Thr358Ile)
|
rs1191901557
|
0.00001
|
NM_004360.5(CDH1):c.1079C>G (p.Thr360Arg)
|
rs549579183
|
0.00001
|
NM_004360.5(CDH1):c.1090A>T (p.Thr364Ser)
|
rs778868539
|
0.00001
|
NM_004360.5(CDH1):c.1103C>T (p.Thr368Ile)
|
rs367868307
|
0.00001
|
NM_004360.5(CDH1):c.1127A>G (p.Asn376Ser)
|
rs1169866178
|
0.00001
|
NM_004360.5(CDH1):c.112A>G (p.Thr38Ala)
|
rs786203442
|
0.00001
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
NM_004360.5(CDH1):c.1138-10T>C
|
rs758324153
|
0.00001
|
NM_004360.5(CDH1):c.1138-13C>G
|
rs1399457483
|
0.00001
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
0.00001
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_004360.5(CDH1):c.1210C>T (p.Pro404Ser)
|
rs1334047600
|
0.00001
|
NM_004360.5(CDH1):c.1213A>G (p.Asn405Asp)
|
rs1336921050
|
0.00001
|
NM_004360.5(CDH1):c.1217C>G (p.Thr406Ser)
|
rs753770270
|
0.00001
|
NM_004360.5(CDH1):c.1243A>G (p.Ile415Val)
|
rs1060501239
|
0.00001
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)
|
rs876659333
|
0.00001
|
NM_004360.5(CDH1):c.1279A>G (p.Thr427Ala)
|
rs1064793864
|
0.00001
|
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)
|
rs758764445
|
0.00001
|
NM_004360.5(CDH1):c.1319A>G (p.Lys440Arg)
|
rs864622165
|
0.00001
|
NM_004360.5(CDH1):c.1325T>C (p.Leu442Ser)
|
rs752074266
|
0.00001
|
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn)
|
rs750741214
|
0.00001
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.1402A>G (p.Thr468Ala)
|
rs745617489
|
0.00001
|
NM_004360.5(CDH1):c.1446A>T (p.Glu482Asp)
|
rs863224724
|
0.00001
|
NM_004360.5(CDH1):c.1478T>C (p.Val493Ala)
|
rs786202407
|
0.00001
|
NM_004360.5(CDH1):c.1478T>G (p.Val493Gly)
|
rs786202407
|
0.00001
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
NM_004360.5(CDH1):c.1503G>A (p.Val501=)
|
rs775290153
|
0.00001
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
NM_004360.5(CDH1):c.1516A>G (p.Thr506Ala)
|
rs114885938
|
0.00001
|
NM_004360.5(CDH1):c.151G>A (p.Val51Ile)
|
rs1555509780
|
0.00001
|
NM_004360.5(CDH1):c.1525A>G (p.Thr509Ala)
|
rs761356661
|
0.00001
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
NM_004360.5(CDH1):c.1543A>G (p.Thr515Ala)
|
rs1219371636
|
0.00001
|
NM_004360.5(CDH1):c.1563A>G (p.Ile521Met)
|
rs761162838
|
0.00001
|
NM_004360.5(CDH1):c.1571G>A (p.Arg524Gln)
|
rs761180883
|
0.00001
|
NM_004360.5(CDH1):c.1601A>G (p.Glu534Gly)
|
rs765495095
|
0.00001
|
NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)
|
rs756154596
|
0.00001
|
NM_004360.5(CDH1):c.1628C>T (p.Ser543Phe)
|
rs148400889
|
0.00001
|
NM_004360.5(CDH1):c.163+6G>A
|
rs1436334058
|
0.00001
|
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp)
|
rs863224727
|
0.00001
|
NM_004360.5(CDH1):c.1634G>T (p.Arg545Leu)
|
rs587780115
|
0.00001
|
NM_004360.5(CDH1):c.1645G>A (p.Asp549Asn)
|
rs876659525
|
0.00001
|
NM_004360.5(CDH1):c.1666G>A (p.Val556Met)
|
rs876660399
|
0.00001
|
NM_004360.5(CDH1):c.1711+6G>T
|
rs1555516597
|
0.00001
|
NM_004360.5(CDH1):c.1712-3T>G
|
rs1269786119
|
0.00001
|
NM_004360.5(CDH1):c.1712G>A (p.Gly571Asp)
|
rs1961155617
|
0.00001
|
NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)
|
rs1060501234
|
0.00001
|
NM_004360.5(CDH1):c.1757C>T (p.Ser586Phe)
|
rs864622599
|
0.00001
|
NM_004360.5(CDH1):c.1770C>A (p.Asp590Glu)
|
rs864622319
|
0.00001
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
NM_004360.5(CDH1):c.1790C>G (p.Pro597Arg)
|
rs1961161092
|
0.00001
|
NM_004360.5(CDH1):c.1842C>T (p.Ile614=)
|
rs773368593
|
0.00001
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
NM_004360.5(CDH1):c.1844T>C (p.Ile615Thr)
|
rs760707493
|
0.00001
|
NM_004360.5(CDH1):c.185G>T (p.Gly62Val)
|
rs786203727
|
0.00001
|
NM_004360.5(CDH1):c.1885G>C (p.Glu629Gln)
|
rs1028765743
|
0.00001
|
NM_004360.5(CDH1):c.1897G>A (p.Gly633Arg)
|
rs587781615
|
0.00001
|
NM_004360.5(CDH1):c.1900G>A (p.Ala634Thr)
|
rs1060501240
|
0.00001
|
NM_004360.5(CDH1):c.1906G>A (p.Ala636Thr)
|
rs876658950
|
0.00001
|
NM_004360.5(CDH1):c.1929C>T (p.Asn643=)
|
rs374152504
|
0.00001
|
NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala)
|
rs771064558
|
0.00001
|
NM_004360.5(CDH1):c.1953T>G (p.Ile651Met)
|
rs1555517083
|
0.00001
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
NM_004360.5(CDH1):c.2009T>C (p.Met670Thr)
|
rs773006015
|
0.00001
|
NM_004360.5(CDH1):c.200C>A (p.Ala67Asp)
|
rs730881660
|
0.00001
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
NM_004360.5(CDH1):c.2033T>C (p.Val678Ala)
|
rs876659352
|
0.00001
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
NM_004360.5(CDH1):c.2050A>G (p.Ser684Gly)
|
rs1407001897
|
0.00001
|
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr)
|
rs876660560
|
0.00001
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
NM_004360.5(CDH1):c.20G>C (p.Ser7Thr)
|
rs1310934198
|
0.00001
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)
|
rs1060501244
|
0.00001
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
NM_004360.5(CDH1):c.220C>G (p.Arg74Gly)
|
rs876658932
|
0.00001
|
NM_004360.5(CDH1):c.2219C>A (p.Pro740His)
|
rs730881669
|
0.00001
|
NM_004360.5(CDH1):c.225C>G (p.Phe75Leu)
|
rs767019668
|
0.00001
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys)
|
rs187289510
|
0.00001
|
NM_004360.5(CDH1):c.2268T>G (p.Asp756Glu)
|
rs1567515480
|
0.00001
|
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)
|
rs779648243
|
0.00001
|
NM_004360.5(CDH1):c.22C>G (p.Leu8Val)
|
rs1234138761
|
0.00001
|
NM_004360.5(CDH1):c.2302G>A (p.Asp768Asn)
|
rs786201999
|
0.00001
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
NM_004360.5(CDH1):c.2320A>G (p.Arg774Gly)
|
rs753540183
|
0.00001
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
NM_004360.5(CDH1):c.233G>A (p.Gly78Asp)
|
rs587781404
|
0.00001
|
NM_004360.5(CDH1):c.2351G>A (p.Arg784His)
|
rs763203357
|
0.00001
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
NM_004360.5(CDH1):c.2383C>T (p.Pro795Ser)
|
rs1298997936
|
0.00001
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
NM_004360.5(CDH1):c.2414A>G (p.Asp805Gly)
|
rs1481419710
|
0.00001
|
NM_004360.5(CDH1):c.2416G>A (p.Glu806Lys)
|
rs376922615
|
0.00001
|
NM_004360.5(CDH1):c.2426A>G (p.Asn809Ser)
|
rs1427872591
|
0.00001
|
NM_004360.5(CDH1):c.2448A>C (p.Lys816Asn)
|
rs762704513
|
0.00001
|
NM_004360.5(CDH1):c.244G>A (p.Val82Met)
|
rs1064793867
|
0.00001
|
NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)
|
rs878854685
|
0.00001
|
NM_004360.5(CDH1):c.2459C>T (p.Thr820Ile)
|
rs767159815
|
0.00001
|
NM_004360.5(CDH1):c.245T>G (p.Val82Gly)
|
rs942284129
|
0.00001
|
NM_004360.5(CDH1):c.2464C>T (p.Pro822Ser)
|
rs876660086
|
0.00001
|
NM_004360.5(CDH1):c.2485T>G (p.Ser829Ala)
|
rs1265463733
|
0.00001
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)
|
rs754388534
|
0.00001
|
NM_004360.5(CDH1):c.2521G>A (p.Glu841Lys)
|
rs377489352
|
0.00001
|
NM_004360.5(CDH1):c.2543T>C (p.Leu848Pro)
|
rs767315263
|
0.00001
|
NM_004360.5(CDH1):c.2545A>G (p.Asn849Asp)
|
rs876660881
|
0.00001
|
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys)
|
rs1337211551
|
0.00001
|
NM_004360.5(CDH1):c.254T>C (p.Val85Ala)
|
rs878854688
|
0.00001
|
NM_004360.5(CDH1):c.2555A>C (p.Glu852Ala)
|
rs1485384861
|
0.00001
|
NM_004360.5(CDH1):c.2572G>C (p.Asp858His)
|
rs587782025
|
0.00001
|
NM_004360.5(CDH1):c.2574C>A (p.Asp858Glu)
|
rs1060501245
|
0.00001
|
NM_004360.5(CDH1):c.2578G>T (p.Asp860Tyr)
|
rs1412506259
|
0.00001
|
NM_004360.5(CDH1):c.257A>G (p.Lys86Arg)
|
rs1160169015
|
0.00001
|
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser)
|
rs864622630
|
0.00001
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)
|
rs878854689
|
0.00001
|
NM_004360.5(CDH1):c.2629G>A (p.Gly877Arg)
|
rs555842031
|
0.00001
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)
|
rs1053572488
|
0.00001
|
NM_004360.5(CDH1):c.294C>A (p.Phe98Leu)
|
rs1177900932
|
0.00001
|
NM_004360.5(CDH1):c.29C>T (p.Ala10Val)
|
rs1375360857
|
0.00001
|
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)
|
rs587778172
|
0.00001
|
NM_004360.5(CDH1):c.337A>G (p.Lys113Glu)
|
rs876661106
|
0.00001
|
NM_004360.5(CDH1):c.35T>C (p.Leu12Pro)
|
rs1191249318
|
0.00001
|
NM_004360.5(CDH1):c.363C>A (p.His121Gln)
|
rs781427897
|
0.00001
|
NM_004360.5(CDH1):c.365A>G (p.His122Arg)
|
rs373668742
|
0.00001
|
NM_004360.5(CDH1):c.368A>G (p.His123Arg)
|
rs786202794
|
0.00001
|
NM_004360.5(CDH1):c.369C>G (p.His123Gln)
|
rs778954591
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004360.5(CDH1):c.373C>T (p.Pro125Ser)
|
rs730881662
|
0.00001
|
NM_004360.5(CDH1):c.378G>T (p.Pro126=)
|
rs786201504
|
0.00001
|
NM_004360.5(CDH1):c.382C>T (p.His128Tyr)
|
rs376152506
|
0.00001
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
NM_004360.5(CDH1):c.427C>T (p.Pro143Ser)
|
rs876661226
|
0.00001
|
NM_004360.5(CDH1):c.44T>A (p.Leu15Gln)
|
rs370614162
|
0.00001
|
NM_004360.5(CDH1):c.456G>C (p.Gln152His)
|
rs745589555
|
0.00001
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
NM_004360.5(CDH1):c.48G>T (p.Gln16His)
|
rs749591910
|
0.00001
|
NM_004360.5(CDH1):c.553G>C (p.Glu185Gln)
|
rs1434277339
|
0.00001
|
NM_004360.5(CDH1):c.55T>G (p.Ser19Ala)
|
rs1042391377
|
0.00001
|
NM_004360.5(CDH1):c.562G>A (p.Val188Ile)
|
rs775484115
|
0.00001
|
NM_004360.5(CDH1):c.574A>G (p.Ile192Val)
|
rs376102028
|
0.00001
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
NM_004360.5(CDH1):c.620T>C (p.Ile207Thr)
|
rs778570149
|
0.00001
|
NM_004360.5(CDH1):c.622G>A (p.Glu208Lys)
|
rs898610512
|
0.00001
|
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)
|
rs587781766
|
0.00001
|
NM_004360.5(CDH1):c.650C>A (p.Thr217Lys)
|
rs778382252
|
0.00001
|
NM_004360.5(CDH1):c.665G>A (p.Arg222Lys)
|
rs1555515287
|
0.00001
|
NM_004360.5(CDH1):c.679A>G (p.Thr227Ala)
|
rs1064796018
|
0.00001
|
NM_004360.5(CDH1):c.722C>G (p.Ala241Gly)
|
rs1267605366
|
0.00001
|
NM_004360.5(CDH1):c.758C>T (p.Thr253Ile)
|
rs776503962
|
0.00001
|
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys)
|
rs121964873
|
0.00001
|
NM_004360.5(CDH1):c.793G>C (p.Glu265Gln)
|
rs876659503
|
0.00001
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)
|
rs878854696
|
0.00001
|
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)
|
rs750979600
|
0.00001
|
NM_004360.5(CDH1):c.896C>G (p.Ala299Gly)
|
rs745807727
|
0.00001
|
NM_004360.5(CDH1):c.89C>G (p.Pro30Arg)
|
rs876660408
|
0.00001
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
NM_004360.5(CDH1):c.931C>A (p.Leu311Ile)
|
rs767003567
|
0.00001
|
NM_004360.5(CDH1):c.980G>C (p.Ser327Thr)
|
rs587781778
|
0.00001
|
NM_004360.5(CDH1):c.994G>A (p.Gly332Arg)
|
rs587781759
|
0.00001
|
NM_004655.4(AXIN2):c.1000C>G (p.Gln334Glu)
|
rs770254456
|
0.00001
|
NM_004655.4(AXIN2):c.1043C>G (p.Ser348Cys)
|
rs779669781
|
0.00001
|
NM_004655.4(AXIN2):c.1180C>T (p.Arg394Cys)
|
rs753049092
|
0.00001
|
NM_004655.4(AXIN2):c.1183C>G (p.Leu395Val)
|
rs373087123
|
0.00001
|
NM_004655.4(AXIN2):c.1238C>T (p.Ser413Leu)
|
rs1399215718
|
0.00001
|
NM_004655.4(AXIN2):c.1375C>T (p.Arg459Cys)
|
rs777680532
|
0.00001
|
NM_004655.4(AXIN2):c.1394G>A (p.Arg465His)
|
rs764640447
|
0.00001
|
NM_004655.4(AXIN2):c.1400C>T (p.Pro467Leu)
|
rs908388069
|
0.00001
|
NM_004655.4(AXIN2):c.1420C>T (p.His474Tyr)
|
rs1060502132
|
0.00001
|
NM_004655.4(AXIN2):c.1496T>C (p.Leu499Pro)
|
rs781185996
|
0.00001
|
NM_004655.4(AXIN2):c.1511G>A (p.Gly504Asp)
|
rs754079144
|
0.00001
|
NM_004655.4(AXIN2):c.1555A>G (p.Ile519Val)
|
rs146769008
|
0.00001
|
NM_004655.4(AXIN2):c.1582A>G (p.Lys528Glu)
|
rs756551019
|
0.00001
|
NM_004655.4(AXIN2):c.1618C>A (p.His540Asn)
|
rs573731155
|
0.00001
|
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg)
|
rs730881398
|
0.00001
|
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val)
|
rs373442399
|
0.00001
|
NM_004655.4(AXIN2):c.1763C>T (p.Pro588Leu)
|
rs1305562386
|
0.00001
|
NM_004655.4(AXIN2):c.1772C>T (p.Ala591Val)
|
rs1439853340
|
0.00001
|
NM_004655.4(AXIN2):c.1878T>A (p.Ser626Arg)
|
rs767756290
|
0.00001
|
NM_004655.4(AXIN2):c.1906A>G (p.Ser636Gly)
|
rs745616808
|
0.00001
|
NM_004655.4(AXIN2):c.1908-2A>G
|
rs978837790
|
0.00001
|
NM_004655.4(AXIN2):c.1918A>C (p.Thr640Pro)
|
rs1060502157
|
0.00001
|
NM_004655.4(AXIN2):c.1931A>G (p.Tyr644Cys)
|
rs1025003994
|
0.00001
|
NM_004655.4(AXIN2):c.1933C>T (p.Pro645Ser)
|
rs1405864888
|
0.00001
|
NM_004655.4(AXIN2):c.1984C>G (p.Leu662Val)
|
rs979932202
|
0.00001
|
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn)
|
rs878854724
|
0.00001
|
NM_004655.4(AXIN2):c.2002G>A (p.Gly668Arg)
|
rs774732785
|
0.00001
|
NM_004655.4(AXIN2):c.2024G>T (p.Arg675Leu)
|
rs730881401
|
0.00001
|
NM_004655.4(AXIN2):c.2060C>T (p.Pro687Leu)
|
rs771109399
|
0.00001
|
NM_004655.4(AXIN2):c.2204C>T (p.Thr735Ile)
|
rs746350974
|
0.00001
|
NM_004655.4(AXIN2):c.2222G>A (p.Ser741Asn)
|
rs781309325
|
0.00001
|
NM_004655.4(AXIN2):c.2347G>T (p.Ala783Ser)
|
rs760217787
|
0.00001
|
NM_004655.4(AXIN2):c.2501G>A (p.Arg834Gln)
|
rs199838262
|
0.00001
|
NM_004655.4(AXIN2):c.2521C>T (p.Arg841Trp)
|
rs527766429
|
0.00001
|
NM_004655.4(AXIN2):c.370G>A (p.Asp124Asn)
|
rs755990979
|
0.00001
|
NM_004655.4(AXIN2):c.407A>G (p.Lys136Arg)
|
rs1457819815
|
0.00001
|
NM_004655.4(AXIN2):c.469A>G (p.Ile157Val)
|
rs951973598
|
0.00001
|
NM_004655.4(AXIN2):c.604A>C (p.Ser202Arg)
|
rs780801809
|
0.00001
|
NM_004655.4(AXIN2):c.671A>G (p.Tyr224Cys)
|
rs1166843937
|
0.00001
|
NM_004655.4(AXIN2):c.712G>A (p.Asp238Asn)
|
rs1279069233
|
0.00001
|
NM_004655.4(AXIN2):c.773C>T (p.Thr258Met)
|
rs1473358053
|
0.00001
|
NM_004655.4(AXIN2):c.776C>T (p.Ala259Val)
|
rs1239640498
|
0.00001
|
NM_004655.4(AXIN2):c.788C>A (p.Ser263Tyr)
|
rs377293563
|
0.00001
|
NM_004655.4(AXIN2):c.7A>G (p.Ser3Gly)
|
rs762626041
|
0.00001
|
NM_004655.4(AXIN2):c.863G>C (p.Gly288Ala)
|
rs754388559
|
0.00001
|
NM_004655.4(AXIN2):c.940A>G (p.Met314Val)
|
rs778252248
|
0.00001
|
NM_004655.4(AXIN2):c.942G>T (p.Met314Ile)
|
rs945493883
|
0.00001
|
NM_004655.4(AXIN2):c.94G>A (p.Glu32Lys)
|
rs1173490917
|
0.00001
|
NM_004836.7(EIF2AK3):c.833T>A (p.Phe278Tyr)
|
rs756231274
|
0.00001
|
NM_004852.3(ONECUT2):c.676C>G (p.Pro226Ala)
|
rs777194115
|
0.00001
|
NM_004852.3(ONECUT2):c.928C>T (p.Pro310Ser)
|
rs1297497235
|
0.00001
|
NM_004963.4(GUCY2C):c.2758C>T (p.Arg920Cys)
|
rs149347801
|
0.00001
|
NM_004963.4(GUCY2C):c.2875+99A>G
|
rs1415414290
|
0.00001
|
NM_005068.3(SIM1):c.1894C>T (p.His632Tyr)
|
rs1486871541
|
0.00001
|
NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser)
|
rs773651001
|
0.00001
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
0.00001
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
|
rs780956934
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
NM_005271.5(GLUD1):c.826G>A (p.Val276Ile)
|
rs768726421
|
0.00001
|
NM_005327.4(HADH):c.-86G>T
|
rs528952923
|
0.00001
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
0.00001
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
|
rs137853102
|
0.00001
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
NM_005327.7(HADH):c.406A>G (p.Lys136Glu)
|
rs1262186453
|
0.00001
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
NM_005359.6(SMAD4):c.*1277G>T
|
rs886053900
|
0.00001
|
NM_005359.6(SMAD4):c.*1315G>A
|
rs1006483392
|
0.00001
|
NM_005359.6(SMAD4):c.*1499T>G
|
rs973805114
|
0.00001
|
NM_005359.6(SMAD4):c.*1608T>C
|
rs1269516250
|
0.00001
|
NM_005359.6(SMAD4):c.*1786A>G
|
rs1036389216
|
0.00001
|
NM_005359.6(SMAD4):c.*2354G>A
|
rs886053905
|
0.00001
|
NM_005359.6(SMAD4):c.*2897G>A
|
rs772039050
|
0.00001
|
NM_005359.6(SMAD4):c.*30A>C
|
rs767288576
|
0.00001
|
NM_005359.6(SMAD4):c.*3186T>C
|
rs886053911
|
0.00001
|
NM_005359.6(SMAD4):c.*332A>G
|
rs975068806
|
0.00001
|
NM_005359.6(SMAD4):c.*3843G>A
|
rs886053915
|
0.00001
|
NM_005359.6(SMAD4):c.*4707G>A
|
rs1265840002
|
0.00001
|
NM_005359.6(SMAD4):c.*579G>T
|
rs1013268028
|
0.00001
|
NM_005359.6(SMAD4):c.*5985A>G
|
rs886053934
|
0.00001
|
NM_005359.6(SMAD4):c.*605A>C
|
rs1910543316
|
0.00001
|
NM_005359.6(SMAD4):c.*6408C>T
|
rs557992238
|
0.00001
|
NM_005359.6(SMAD4):c.*720G>A
|
rs976054814
|
0.00001
|
NM_005359.6(SMAD4):c.-127G>A
|
rs1348701370
|
0.00001
|
NM_005359.6(SMAD4):c.-128+12A>G
|
rs886053891
|
0.00001
|
NM_005359.6(SMAD4):c.-504A>G
|
rs900453280
|
0.00001
|
NM_005359.6(SMAD4):c.-531G>C
|
rs988578345
|
0.00001
|
NM_005359.6(SMAD4):c.-9C>G
|
rs864622289
|
0.00001
|
NM_005359.6(SMAD4):c.1006G>C (p.Gly336Arg)
|
rs878854763
|
0.00001
|
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)
|
rs747360831
|
0.00001
|
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)
|
rs564408927
|
0.00001
|
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val)
|
rs1555686499
|
0.00001
|
NM_005359.6(SMAD4):c.1160T>G (p.Val387Gly)
|
rs1910179680
|
0.00001
|
NM_005359.6(SMAD4):c.119T>C (p.Ile40Thr)
|
rs939612648
|
0.00001
|
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr)
|
rs1179609154
|
0.00001
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
NM_005359.6(SMAD4):c.1393G>A (p.Val465Met)
|
rs786201798
|
0.00001
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
NM_005359.6(SMAD4):c.1532C>T (p.Pro511Leu)
|
rs773367516
|
0.00001
|
NM_005359.6(SMAD4):c.1588C>A (p.His530Asn)
|
rs754393017
|
0.00001
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)
|
rs751154230
|
0.00001
|
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)
|
rs281875323
|
0.00001
|
NM_005359.6(SMAD4):c.400G>A (p.Glu134Lys)
|
rs748395067
|
0.00001
|
NM_005359.6(SMAD4):c.43G>A (p.Ala15Thr)
|
rs1909566748
|
0.00001
|
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)
|
rs750355699
|
0.00001
|
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser)
|
rs751763157
|
0.00001
|
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr)
|
rs756675590
|
0.00001
|
NM_005359.6(SMAD4):c.491A>G (p.His164Arg)
|
rs876660058
|
0.00001
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)
|
rs770798845
|
0.00001
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu)
|
rs752575871
|
0.00001
|
NM_005359.6(SMAD4):c.580A>G (p.Thr194Ala)
|
rs1432058632
|
0.00001
|
NM_005359.6(SMAD4):c.622G>A (p.Ala208Thr)
|
rs1046411210
|
0.00001
|
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser)
|
rs757977781
|
0.00001
|
NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg)
|
rs777495692
|
0.00001
|
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr)
|
rs1345146274
|
0.00001
|
NM_005359.6(SMAD4):c.667+3G>A
|
rs757971589
|
0.00001
|
NM_005359.6(SMAD4):c.667+6T>C
|
rs1060500745
|
0.00001
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly)
|
rs1443767329
|
0.00001
|
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val)
|
rs1280682459
|
0.00001
|
NM_005359.6(SMAD4):c.698A>G (p.His233Arg)
|
rs1555685910
|
0.00001
|
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
|
rs876659391
|
0.00001
|
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)
|
rs876659967
|
0.00001
|
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)
|
rs751985298
|
0.00001
|
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)
|
rs763510526
|
0.00001
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
NM_005359.6(SMAD4):c.832C>A (p.Pro278Thr)
|
rs1257577085
|
0.00001
|
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser)
|
rs750111831
|
0.00001
|
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)
|
rs786201404
|
0.00001
|
NM_005359.6(SMAD4):c.876G>A (p.Pro292=)
|
rs753358186
|
0.00001
|
NM_005359.6(SMAD4):c.887C>T (p.Pro296Leu)
|
rs1417632301
|
0.00001
|
NM_005359.6(SMAD4):c.903C>T (p.Tyr301=)
|
rs746084369
|
0.00001
|
NM_005359.6(SMAD4):c.905-3T>C
|
rs746836038
|
0.00001
|
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)
|
rs730881953
|
0.00001
|
NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg)
|
rs1381679797
|
0.00001
|
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val)
|
rs748622028
|
0.00001
|
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn)
|
rs752432398
|
0.00001
|
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln)
|
rs772393451
|
0.00001
|
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro)
|
rs368264587
|
0.00001
|
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)
|
rs138808270
|
0.00001
|
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly)
|
rs771498413
|
0.00001
|
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu)
|
rs935411471
|
0.00001
|
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)
|
rs775039116
|
0.00001
|
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)
|
rs727503750
|
0.00001
|
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val)
|
rs201557396
|
0.00001
|
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala)
|
rs760990181
|
0.00001
|
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr)
|
rs876658118
|
0.00001
|
NM_006005.3(WFS1):c.176C>T (p.Ala59Val)
|
rs71524365
|
0.00001
|
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser)
|
rs1432704019
|
0.00001
|
NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly)
|
rs387906930
|
0.00001
|
NM_006005.3(WFS1):c.2108G>A (p.Arg703His)
|
rs1323852277
|
0.00001
|
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr)
|
rs146418094
|
0.00001
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly)
|
rs752023481
|
0.00001
|
NM_006005.3(WFS1):c.2407G>A (p.Val803Met)
|
rs745988826
|
0.00001
|
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)
|
rs756972444
|
0.00001
|
NM_006005.3(WFS1):c.2495G>A (p.Arg832His)
|
rs141816346
|
0.00001
|
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn)
|
rs573202595
|
0.00001
|
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg)
|
rs763992743
|
0.00001
|
NM_006005.3(WFS1):c.527T>C (p.Val176Ala)
|
rs772915458
|
0.00001
|
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)
|
rs776685250
|
0.00001
|
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg)
|
rs1005714777
|
0.00001
|
NM_006005.3(WFS1):c.593C>T (p.Ala198Val)
|
rs142687752
|
0.00001
|
NM_006005.3(WFS1):c.631+5G>A
|
rs863224261
|
0.00001
|
NM_006005.3(WFS1):c.641C>T (p.Ala214Val)
|
rs750861249
|
0.00001
|
NM_006005.3(WFS1):c.686T>C (p.Met229Thr)
|
rs774525063
|
0.00001
|
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)
|
rs727503747
|
0.00001
|
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln)
|
rs551867477
|
0.00001
|
NM_006005.3(WFS1):c.862G>A (p.Val288Met)
|
rs71537685
|
0.00001
|
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)
|
rs564413149
|
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.*505A>G
|
rs373134586
|
0.00001
|
NM_006206.6(PDGFRA):c.1015G>T (p.Val339Leu)
|
rs747257877
|
0.00001
|
NM_006206.6(PDGFRA):c.1036A>G (p.Arg346Gly)
|
rs1230076983
|
0.00001
|
NM_006206.6(PDGFRA):c.103A>G (p.Asn35Asp)
|
rs769386190
|
0.00001
|
NM_006206.6(PDGFRA):c.1102G>C (p.Glu368Gln)
|
rs1357067277
|
0.00001
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
NM_006206.6(PDGFRA):c.1126C>T (p.Arg376Ter)
|
rs1577719401
|
0.00001
|
NM_006206.6(PDGFRA):c.113T>C (p.Val38Ala)
|
rs773405650
|
0.00001
|
NM_006206.6(PDGFRA):c.1147C>T (p.Arg383Cys)
|
rs1324781921
|
0.00001
|
NM_006206.6(PDGFRA):c.1148G>A (p.Arg383His)
|
rs1368411882
|
0.00001
|
NM_006206.6(PDGFRA):c.115G>A (p.Val39Met)
|
rs1553902356
|
0.00001
|
NM_006206.6(PDGFRA):c.1175A>T (p.Tyr392Phe)
|
rs746100370
|
0.00001
|
NM_006206.6(PDGFRA):c.1180A>G (p.Ile394Val)
|
rs1723295850
|
0.00001
|
NM_006206.6(PDGFRA):c.1183G>T (p.Val395Leu)
|
rs1354659434
|
0.00001
|
NM_006206.6(PDGFRA):c.1187C>T (p.Ala396Val)
|
rs1403199114
|
0.00001
|
NM_006206.6(PDGFRA):c.1197A>T (p.Glu399Asp)
|
rs1429740752
|
0.00001
|
NM_006206.6(PDGFRA):c.1255G>T (p.Asp419Tyr)
|
rs749421720
|
0.00001
|
NM_006206.6(PDGFRA):c.1264G>A (p.Asp422Asn)
|
rs770847351
|
0.00001
|
NM_006206.6(PDGFRA):c.1267G>A (p.Asp423Asn)
|
rs776298880
|
0.00001
|
NM_006206.6(PDGFRA):c.1273C>T (p.His425Tyr)
|
rs759374919
|
0.00001
|
NM_006206.6(PDGFRA):c.1282A>G (p.Thr428Ala)
|
rs878854820
|
0.00001
|
NM_006206.6(PDGFRA):c.1283C>G (p.Thr428Ser)
|
rs762651640
|
0.00001
|
NM_006206.6(PDGFRA):c.1295C>T (p.Thr432Met)
|
rs750809787
|
0.00001
|
NM_006206.6(PDGFRA):c.1307C>T (p.Thr436Ile)
|
rs139920579
|
0.00001
|
NM_006206.6(PDGFRA):c.1336G>A (p.Glu446Lys)
|
rs1441980002
|
0.00001
|
NM_006206.6(PDGFRA):c.133T>C (p.Phe45Leu)
|
rs149408217
|
0.00001
|
NM_006206.6(PDGFRA):c.1352A>C (p.Lys451Thr)
|
rs1178568199
|
0.00001
|
NM_006206.6(PDGFRA):c.1354G>T (p.Asp452Tyr)
|
rs1204540280
|
0.00001
|
NM_006206.6(PDGFRA):c.1364+4T>C
|
rs1577722785
|
0.00001
|
NM_006206.6(PDGFRA):c.1369A>T (p.Asn457Tyr)
|
rs1294435524
|
0.00001
|
NM_006206.6(PDGFRA):c.1412A>G (p.Asn471Ser)
|
rs1199380187
|
0.00001
|
NM_006206.6(PDGFRA):c.1421C>T (p.Thr474Met)
|
rs751618661
|
0.00001
|
NM_006206.6(PDGFRA):c.1425G>T (p.Glu475Asp)
|
rs200309940
|
0.00001
|
NM_006206.6(PDGFRA):c.1426A>C (p.Ile476Leu)
|
rs1329845160
|
0.00001
|
NM_006206.6(PDGFRA):c.1435C>T (p.Arg479Ter)
|
rs771567933
|
0.00001
|
NM_006206.6(PDGFRA):c.1438G>A (p.Asp480Asn)
|
rs746522772
|
0.00001
|
NM_006206.6(PDGFRA):c.1459C>A (p.Arg487Ser)
|
rs763237825
|
0.00001
|
NM_006206.6(PDGFRA):c.1459C>T (p.Arg487Cys)
|
rs763237825
|
0.00001
|
NM_006206.6(PDGFRA):c.1466C>G (p.Thr489Ser)
|
rs761961392
|
0.00001
|
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr)
|
rs563016888
|
0.00001
|
NM_006206.6(PDGFRA):c.1475A>C (p.Lys492Thr)
|
rs754824764
|
0.00001
|
NM_006206.6(PDGFRA):c.1486A>C (p.Thr496Pro)
|
rs778784351
|
0.00001
|
NM_006206.6(PDGFRA):c.1495G>A (p.Val499Met)
|
rs746574289
|
0.00001
|
NM_006206.6(PDGFRA):c.1499G>A (p.Arg500Gln)
|
rs1308521786
|
0.00001
|
NM_006206.6(PDGFRA):c.1507G>A (p.Ala503Thr)
|
rs1560479104
|
0.00001
|
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe)
|
rs142980928
|
0.00001
|
NM_006206.6(PDGFRA):c.1529A>C (p.Glu510Ala)
|
rs775985327
|
0.00001
|
NM_006206.6(PDGFRA):c.1535G>A (p.Arg512Gln)
|
rs1174017872
|
0.00001
|
NM_006206.6(PDGFRA):c.1559C>T (p.Thr520Ile)
|
rs760659222
|
0.00001
|
NM_006206.6(PDGFRA):c.1565G>A (p.Arg522His)
|
rs765271720
|
0.00001
|
NM_006206.6(PDGFRA):c.1567T>A (p.Ser523Thr)
|
rs147733970
|
0.00001
|
NM_006206.6(PDGFRA):c.1577C>T (p.Thr526Met)
|
rs904415979
|
0.00001
|
NM_006206.6(PDGFRA):c.1580T>C (p.Val527Ala)
|
rs1294452177
|
0.00001
|
NM_006206.6(PDGFRA):c.1582G>A (p.Ala528Thr)
|
rs763901708
|
0.00001
|
NM_006206.6(PDGFRA):c.1640T>C (p.Val547Ala)
|
rs1577726261
|
0.00001
|
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)
|
rs1060501502
|
0.00001
|
NM_006206.6(PDGFRA):c.1668A>T (p.Glu556Asp)
|
rs1553904439
|
0.00001
|
NM_006206.6(PDGFRA):c.1672C>T (p.Arg558Cys)
|
rs765680542
|
0.00001
|
NM_006206.6(PDGFRA):c.1730C>T (p.Pro577Leu)
|
rs778015444
|
0.00001
|
NM_006206.6(PDGFRA):c.1755A>G (p.Arg585=)
|
rs1321255366
|
0.00001
|
NM_006206.6(PDGFRA):c.1789C>T (p.Arg597Trp)
|
rs1349318035
|
0.00001
|
NM_006206.6(PDGFRA):c.1790G>A (p.Arg597Gln)
|
rs999173790
|
0.00001
|
NM_006206.6(PDGFRA):c.1793T>C (p.Val598Ala)
|
rs757608100
|
0.00001
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
NM_006206.6(PDGFRA):c.1817A>G (p.Lys606Arg)
|
rs1723797886
|
0.00001
|
NM_006206.6(PDGFRA):c.1850G>C (p.Arg617Pro)
|
rs377318745
|
0.00001
|
NM_006206.6(PDGFRA):c.1869A>G (p.Lys623=)
|
rs1328605799
|
0.00001
|
NM_006206.6(PDGFRA):c.1902A>C (p.Arg634Ser)
|
rs778818973
|
0.00001
|
NM_006206.6(PDGFRA):c.1918G>T (p.Ala640Ser)
|
rs1397203869
|
0.00001
|
NM_006206.6(PDGFRA):c.1962T>A (p.His654Gln)
|
rs745658205
|
0.00001
|
NM_006206.6(PDGFRA):c.2000C>T (p.Ser667Leu)
|
rs1723832897
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-3T>C
|
rs748981591
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
NM_006206.6(PDGFRA):c.2008A>G (p.Ile670Val)
|
rs1553904985
|
0.00001
|
NM_006206.6(PDGFRA):c.2025G>C (p.Glu675Asp)
|
rs778551529
|
0.00001
|
NM_006206.6(PDGFRA):c.202G>A (p.Asp68Asn)
|
rs1060501504
|
0.00001
|
NM_006206.6(PDGFRA):c.2035T>C (p.Tyr679His)
|
rs1312160226
|
0.00001
|
NM_006206.6(PDGFRA):c.2036A>G (p.Tyr679Cys)
|
rs772617321
|
0.00001
|
NM_006206.6(PDGFRA):c.2088C>G (p.His696Gln)
|
rs765377444
|
0.00001
|
NM_006206.6(PDGFRA):c.20C>A (p.Ala7Glu)
|
rs764472307
|
0.00001
|
NM_006206.6(PDGFRA):c.2112G>T (p.Glu704Asp)
|
rs752884270
|
0.00001
|
NM_006206.6(PDGFRA):c.2119A>G (p.Ile707Val)
|
rs1318827602
|
0.00001
|
NM_006206.6(PDGFRA):c.2123T>C (p.Phe708Ser)
|
rs781356492
|
0.00001
|
NM_006206.6(PDGFRA):c.2148C>A (p.Ser716Arg)
|
rs778408083
|
0.00001
|
NM_006206.6(PDGFRA):c.2162T>A (p.Val721Asp)
|
rs1723999711
|
0.00001
|
NM_006206.6(PDGFRA):c.2212G>C (p.Asp738His)
|
rs1370672831
|
0.00001
|
NM_006206.6(PDGFRA):c.2215A>G (p.Thr739Ala)
|
rs766379425
|
0.00001
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
NM_006206.6(PDGFRA):c.2264C>T (p.Ser755Phe)
|
rs139465754
|
0.00001
|
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn)
|
rs555347387
|
0.00001
|
NM_006206.6(PDGFRA):c.2278T>C (p.Ser760Pro)
|
rs779246705
|
0.00001
|
NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys)
|
rs1171641135
|
0.00001
|
NM_006206.6(PDGFRA):c.2290C>T (p.Arg764Cys)
|
rs34392012
|
0.00001
|
NM_006206.6(PDGFRA):c.2293C>A (p.Pro765Thr)
|
rs1325295795
|
0.00001
|
NM_006206.6(PDGFRA):c.2303A>G (p.Tyr768Cys)
|
rs61735625
|
0.00001
|
NM_006206.6(PDGFRA):c.2308A>G (p.Lys770Glu)
|
rs1248440566
|
0.00001
|
NM_006206.6(PDGFRA):c.2317A>G (p.Met773Val)
|
rs191808397
|
0.00001
|
NM_006206.6(PDGFRA):c.2332G>T (p.Val778Phe)
|
rs200808048
|
0.00001
|
NM_006206.6(PDGFRA):c.2344C>T (p.Leu782Phe)
|
rs1577741455
|
0.00001
|
NM_006206.6(PDGFRA):c.235G>A (p.Gly79Ser)
|
rs1333247214
|
0.00001
|
NM_006206.6(PDGFRA):c.2396C>T (p.Thr799Ile)
|
rs772948645
|
0.00001
|
NM_006206.6(PDGFRA):c.2410C>T (p.Arg804Ter)
|
rs1242960071
|
0.00001
|
NM_006206.6(PDGFRA):c.2439+4A>G
|
rs765827823
|
0.00001
|
NM_006206.6(PDGFRA):c.2439+5G>T
|
rs753055519
|
0.00001
|
NM_006206.6(PDGFRA):c.2449C>T (p.Arg817Cys)
|
rs776099721
|
0.00001
|
NM_006206.6(PDGFRA):c.2483A>G (p.Gln828Arg)
|
rs756209197
|
0.00001
|
NM_006206.6(PDGFRA):c.2492T>C (p.Ile831Thr)
|
rs779958669
|
0.00001
|
NM_006206.6(PDGFRA):c.2531T>C (p.Met844Thr)
|
rs758210670
|
0.00001
|
NM_006206.6(PDGFRA):c.253T>A (p.Leu85Met)
|
rs1354007102
|
0.00001
|
NM_006206.6(PDGFRA):c.2540C>T (p.Ser847Leu)
|
rs377487797
|
0.00001
|
NM_006206.6(PDGFRA):c.2558G>C (p.Gly853Ala)
|
rs763576329
|
0.00001
|
NM_006206.6(PDGFRA):c.2562+4C>T
|
rs374253258
|
0.00001
|
NM_006206.6(PDGFRA):c.2575G>A (p.Val859Met)
|
rs1060501520
|
0.00001
|
NM_006206.6(PDGFRA):c.257A>C (p.Glu86Ala)
|
rs773726970
|
0.00001
|
NM_006206.6(PDGFRA):c.2647A>G (p.Ile883Val)
|
rs776811374
|
0.00001
|
NM_006206.6(PDGFRA):c.2673T>C (p.Leu891=)
|
rs1724417810
|
0.00001
|
NM_006206.6(PDGFRA):c.2689C>T (p.Pro897Ser)
|
rs1435679141
|
0.00001
|
NM_006206.6(PDGFRA):c.2711C>T (p.Thr904Ile)
|
rs778327861
|
0.00001
|
NM_006206.6(PDGFRA):c.2729A>G (p.Lys910Arg)
|
rs1400850021
|
0.00001
|
NM_006206.6(PDGFRA):c.2747C>A (p.Ala916Asp)
|
rs1403858596
|
0.00001
|
NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val)
|
rs759729258
|
0.00001
|
NM_006206.6(PDGFRA):c.282C>A (p.His94Gln)
|
rs750282565
|
0.00001
|
NM_006206.6(PDGFRA):c.2870A>G (p.Gln957Arg)
|
rs757720616
|
0.00001
|
NM_006206.6(PDGFRA):c.2880+3G>A
|
rs971219204
|
0.00001
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
NM_006206.6(PDGFRA):c.2887G>A (p.Glu963Lys)
|
rs756581500
|
0.00001
|
NM_006206.6(PDGFRA):c.2890A>G (p.Lys964Glu)
|
rs1290364180
|
0.00001
|
NM_006206.6(PDGFRA):c.2919C>A (p.Asp973Glu)
|
rs1467854764
|
0.00001
|
NM_006206.6(PDGFRA):c.2930T>G (p.Val977Gly)
|
rs375104103
|
0.00001
|
NM_006206.6(PDGFRA):c.2941C>T (p.Arg981Cys)
|
rs775205485
|
0.00001
|
NM_006206.6(PDGFRA):c.2958T>G (p.Asn986Lys)
|
rs746381701
|
0.00001
|
NM_006206.6(PDGFRA):c.295A>T (p.Thr99Ser)
|
rs1265201159
|
0.00001
|
NM_006206.6(PDGFRA):c.2960C>T (p.Ala987Val)
|
rs756632688
|
0.00001
|
NM_006206.6(PDGFRA):c.2966T>C (p.Ile989Thr)
|
rs587778599
|
0.00001
|
NM_006206.6(PDGFRA):c.2977T>A (p.Tyr993Asn)
|
rs952413151
|
0.00001
|
NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys)
|
rs779173667
|
0.00001
|
NM_006206.6(PDGFRA):c.2989G>A (p.Glu997Lys)
|
rs758534651
|
0.00001
|
NM_006206.6(PDGFRA):c.3004G>T (p.Asp1002Tyr)
|
rs200676118
|
0.00001
|
NM_006206.6(PDGFRA):c.3009G>T (p.Trp1003Cys)
|
rs981559406
|
0.00001
|
NM_006206.6(PDGFRA):c.3079C>T (p.Pro1027Ser)
|
rs1383509559
|
0.00001
|
NM_006206.6(PDGFRA):c.308A>G (p.Asn103Ser)
|
rs1004486437
|
0.00001
|
NM_006206.6(PDGFRA):c.3091G>A (p.Glu1031Lys)
|
rs1444450672
|
0.00001
|
NM_006206.6(PDGFRA):c.3110G>A (p.Arg1037Lys)
|
rs747082676
|
0.00001
|
NM_006206.6(PDGFRA):c.3125C>T (p.Ser1042Leu)
|
rs764265933
|
0.00001
|
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly)
|
rs375050626
|
0.00001
|
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)
|
rs1346616192
|
0.00001
|
NM_006206.6(PDGFRA):c.3206A>G (p.Asp1069Gly)
|
rs372098007
|
0.00001
|
NM_006206.6(PDGFRA):c.3218T>C (p.Met1073Thr)
|
rs764405049
|
0.00001
|
NM_006206.6(PDGFRA):c.3238T>C (p.Ser1080Pro)
|
rs777641634
|
0.00001
|
NM_006206.6(PDGFRA):c.3242C>T (p.Ser1081Leu)
|
rs1724828300
|
0.00001
|
NM_006206.6(PDGFRA):c.332A>G (p.Glu111Gly)
|
rs1255071376
|
0.00001
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
NM_006206.6(PDGFRA):c.367+5G>A
|
rs1173755064
|
0.00001
|
NM_006206.6(PDGFRA):c.374A>C (p.Asp125Ala)
|
rs1167372221
|
0.00001
|
NM_006206.6(PDGFRA):c.401C>T (p.Thr134Met)
|
rs373126818
|
0.00001
|
NM_006206.6(PDGFRA):c.418G>T (p.Val140Leu)
|
rs574683248
|
0.00001
|
NM_006206.6(PDGFRA):c.423G>T (p.Glu141Asp)
|
rs1187957560
|
0.00001
|
NM_006206.6(PDGFRA):c.430G>T (p.Asp144Tyr)
|
rs376497743
|
0.00001
|
NM_006206.6(PDGFRA):c.448T>C (p.Cys150Arg)
|
rs1173137221
|
0.00001
|
NM_006206.6(PDGFRA):c.455C>T (p.Thr152Ile)
|
rs749430582
|
0.00001
|
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)
|
rs587778596
|
0.00001
|
NM_006206.6(PDGFRA):c.509C>T (p.Ala170Val)
|
rs1349637223
|
0.00001
|
NM_006206.6(PDGFRA):c.527A>G (p.Gln176Arg)
|
rs139217250
|
0.00001
|
NM_006206.6(PDGFRA):c.535A>T (p.Asn179Tyr)
|
rs1722887627
|
0.00001
|
NM_006206.6(PDGFRA):c.551T>C (p.Val184Ala)
|
rs367711512
|
0.00001
|
NM_006206.6(PDGFRA):c.581A>G (p.Lys194Arg)
|
rs1323449085
|
0.00001
|
NM_006206.6(PDGFRA):c.590A>C (p.Lys197Thr)
|
rs200484286
|
0.00001
|
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)
|
rs775304724
|
0.00001
|
NM_006206.6(PDGFRA):c.689C>T (p.Thr230Met)
|
rs752886996
|
0.00001
|
NM_006206.6(PDGFRA):c.727G>A (p.Val243Ile)
|
rs774246071
|
0.00001
|
NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser)
|
rs757378016
|
0.00001
|
NM_006206.6(PDGFRA):c.821C>G (p.Thr274Ser)
|
rs758194640
|
0.00001
|
NM_006206.6(PDGFRA):c.835G>A (p.Glu279Lys)
|
rs776121704
|
0.00001
|
NM_006206.6(PDGFRA):c.85T>C (p.Ser29Pro)
|
rs746846673
|
0.00001
|
NM_006206.6(PDGFRA):c.865G>A (p.Glu289Lys)
|
rs958381664
|
0.00001
|
NM_006206.6(PDGFRA):c.86C>T (p.Ser29Phe)
|
rs587778600
|
0.00001
|
NM_006206.6(PDGFRA):c.88A>G (p.Ile30Val)
|
rs780747709
|
0.00001
|
NM_006206.6(PDGFRA):c.890G>A (p.Arg297Lys)
|
rs1060501507
|
0.00001
|
NM_006206.6(PDGFRA):c.916A>G (p.Thr306Ala)
|
rs1408714732
|
0.00001
|
NM_006206.6(PDGFRA):c.949A>G (p.Ile317Val)
|
rs1723108515
|
0.00001
|
NM_006206.6(PDGFRA):c.969G>C (p.Gln323His)
|
rs769276081
|
0.00001
|
NM_006206.6(PDGFRA):c.988C>T (p.His330Tyr)
|
rs991683337
|
0.00001
|
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)
|
rs766617922
|
0.00001
|
NM_006208.3(ENPP1):c.827A>G (p.Asp276Gly)
|
rs1293256202
|
0.00001
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)
|
rs761765763
|
0.00001
|
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser)
|
rs755090755
|
0.00001
|
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn)
|
rs749305408
|
0.00001
|
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala)
|
rs755166232
|
0.00001
|
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys)
|
rs770036124
|
0.00001
|
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)
|
rs2042187560
|
0.00001
|
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)
|
rs777695766
|
0.00001
|
NM_006231.4(POLE):c.5398G>A (p.Val1800Met)
|
rs199777048
|
0.00001
|
NM_006231.4(POLE):c.5429A>T (p.His1810Leu)
|
rs777390504
|
0.00001
|
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val)
|
rs184253572
|
0.00001
|
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr)
|
rs528752399
|
0.00001
|
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter)
|
rs1451513451
|
0.00001
|
NM_006412.4(AGPAT2):c.29C>G (p.Ala10Gly)
|
rs1284278396
|
0.00001
|
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)
|
rs764412749
|
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.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_006996.3(SLC19A2):c.980G>T (p.Arg327Leu)
|
rs756708244
|
0.00001
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007214.4(SEC63):c.-215G>A
|
rs532894703
|
0.00001
|
NM_007214.5(SEC63):c.*1655G>A
|
rs1261761696
|
0.00001
|
NM_007214.5(SEC63):c.*2301A>G
|
rs1288272637
|
0.00001
|
NM_007214.5(SEC63):c.*24T>C
|
rs1262061519
|
0.00001
|
NM_007214.5(SEC63):c.*2607G>C
|
rs549810875
|
0.00001
|
NM_007214.5(SEC63):c.*2783G>A
|
rs1390017904
|
0.00001
|
NM_007214.5(SEC63):c.*2833A>C
|
rs886060942
|
0.00001
|
NM_007214.5(SEC63):c.*3432dup
|
rs886060939
|
0.00001
|
NM_007214.5(SEC63):c.*437A>G
|
rs1786126405
|
0.00001
|
NM_007214.5(SEC63):c.1441-9G>T
|
rs767036637
|
0.00001
|
NM_007214.5(SEC63):c.374G>A (p.Arg125His)
|
rs765447143
|
0.00001
|
NM_007214.5(SEC63):c.452+3A>G
|
rs767207844
|
0.00001
|
NM_007214.5(SEC63):c.452C>T (p.Ala151Val)
|
rs1360860173
|
0.00001
|
NM_007214.5(SEC63):c.828+13T>C
|
rs886060955
|
0.00001
|
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)
|
rs775611332
|
0.00001
|
NM_007272.3(CTRC):c.143A>G (p.Gln48Arg)
|
rs536812916
|
0.00001
|
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp)
|
rs1199793577
|
0.00001
|
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile)
|
rs772513025
|
0.00001
|
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile)
|
rs560916216
|
0.00001
|
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr)
|
rs767349844
|
0.00001
|
NM_007272.3(CTRC):c.230+7G>A
|
rs754126755
|
0.00001
|
NM_007272.3(CTRC):c.256G>A (p.Val86Met)
|
rs367979183
|
0.00001
|
NM_007272.3(CTRC):c.25G>T (p.Ala9Ser)
|
rs749888586
|
0.00001
|
NM_007272.3(CTRC):c.26C>T (p.Ala9Val)
|
rs772818172
|
0.00001
|
NM_007272.3(CTRC):c.320T>C (p.Ile107Thr)
|
rs1708151410
|
0.00001
|
NM_007272.3(CTRC):c.325G>A (p.Val109Ile)
|
rs372127821
|
0.00001
|
NM_007272.3(CTRC):c.331A>C (p.Lys111Gln)
|
rs1460120830
|
0.00001
|
NM_007272.3(CTRC):c.369C>T (p.Ala123=)
|
rs749606141
|
0.00001
|
NM_007272.3(CTRC):c.40+4A>G
|
rs1222161661
|
0.00001
|
NM_007272.3(CTRC):c.40+7G>A
|
rs369827801
|
0.00001
|
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)
|
rs765777463
|
0.00001
|
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile)
|
rs1238171999
|
0.00001
|
NM_007272.3(CTRC):c.494-1G>C
|
rs766917452
|
0.00001
|
NM_007272.3(CTRC):c.538G>A (p.Val180Met)
|
rs780050276
|
0.00001
|
NM_007272.3(CTRC):c.569A>G (p.Asp190Gly)
|
rs765613993
|
0.00001
|
NM_007272.3(CTRC):c.572G>T (p.Trp191Leu)
|
rs753236329
|
0.00001
|
NM_007272.3(CTRC):c.58C>T (p.Pro20Ser)
|
rs757630885
|
0.00001
|
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)
|
rs751977111
|
0.00001
|
NM_007272.3(CTRC):c.618T>A (p.Asp206Glu)
|
rs749204330
|
0.00001
|
NM_007272.3(CTRC):c.631G>A (p.Ala211Thr)
|
rs747965069
|
0.00001
|
NM_007272.3(CTRC):c.679G>A (p.Gly227Ser)
|
rs567745213
|
0.00001
|
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)
|
rs533967597
|
0.00001
|
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln)
|
rs760962602
|
0.00001
|
NM_007272.3(CTRC):c.71C>T (p.Pro24Leu)
|
rs1241494944
|
0.00001
|
NM_007272.3(CTRC):c.721C>T (p.Arg241Trp)
|
rs771229796
|
0.00001
|
NM_007272.3(CTRC):c.759C>T (p.Thr253=)
|
rs1325006359
|
0.00001
|
NM_007272.3(CTRC):c.769G>A (p.Ala257Thr)
|
rs200406696
|
0.00001
|
NM_007272.3(CTRC):c.86G>A (p.Arg29Gln)
|
rs772024986
|
0.00001
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)
|
rs587781768
|
0.00001
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)
|
rs587782747
|
0.00001
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
NM_007315.4(STAT1):c.1038-3C>T
|
rs374148252
|
0.00001
|
NM_007315.4(STAT1):c.1097+3A>G
|
rs1225283533
|
0.00001
|
NM_007315.4(STAT1):c.1097+6A>G
|
rs1485704994
|
0.00001
|
NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser)
|
rs768434440
|
0.00001
|
NM_007315.4(STAT1):c.1222-3T>C
|
rs886055379
|
0.00001
|
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile)
|
rs143182587
|
0.00001
|
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val)
|
rs1313271807
|
0.00001
|
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala)
|
rs1364125268
|
0.00001
|
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser)
|
rs762390015
|
0.00001
|
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser)
|
rs190269533
|
0.00001
|
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met)
|
rs753414973
|
0.00001
|
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser)
|
rs745491762
|
0.00001
|
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe)
|
rs771679419
|
0.00001
|
NM_007315.4(STAT1):c.274-3T>C
|
rs777002134
|
0.00001
|
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser)
|
rs778751233
|
0.00001
|
NM_007315.4(STAT1):c.478A>C (p.Ile160Leu)
|
rs371548986
|
0.00001
|
NM_007315.4(STAT1):c.541+4A>G
|
rs763122792
|
0.00001
|
NM_007315.4(STAT1):c.554A>G (p.Asn185Ser)
|
rs1051397529
|
0.00001
|
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr)
|
rs779371351
|
0.00001
|
NM_007315.4(STAT1):c.944+4A>G
|
rs774979554
|
0.00001
|
NM_007335.4(DLEC1):c.865C>A (p.Pro289Thr)
|
rs776704507
|
0.00001
|
NM_012079.6(DGAT1):c.610C>T (p.Leu204Phe)
|
rs782559118
|
0.00001
|
NM_013372.7(GREM1):c.190C>T (p.Arg64Trp)
|
rs750874632
|
0.00001
|
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln)
|
rs1428528910
|
0.00001
|
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala)
|
rs782474624
|
0.00001
|
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu)
|
rs1382549860
|
0.00001
|
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg)
|
rs868911396
|
0.00001
|
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala)
|
rs782694663
|
0.00001
|
NM_014009.4(FOXP3):c.597C>T (p.Cys199=)
|
rs782377881
|
0.00001
|
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly)
|
rs766633696
|
0.00001
|
NM_015077.4(SARM1):c.*1343G>T
|
rs149579635
|
0.00001
|
NM_015077.4(SARM1):c.*1849C>T
|
rs988138947
|
0.00001
|
NM_015077.4(SARM1):c.*2150T>C
|
rs886052748
|
0.00001
|
NM_015077.4(SARM1):c.1924-38G>T
|
rs886052740
|
0.00001
|
NM_015077.4(SARM1):c.1924-407C>T
|
rs1216449496
|
0.00001
|
NM_015077.4(SARM1):c.1924-569T>C
|
rs528235797
|
0.00001
|
NM_015634.4(KIFBP):c.858C>T (p.Ile286=)
|
rs757772205
|
0.00001
|
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)
|
rs1085307944
|
0.00001
|
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala)
|
rs769425183
|
0.00001
|
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp)
|
rs753636454
|
0.00001
|
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile)
|
rs1367144327
|
0.00001
|
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala)
|
rs773832570
|
0.00001
|
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu)
|
rs554313786
|
0.00001
|
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)
|
rs776415168
|
0.00001
|
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu)
|
rs779076957
|
0.00001
|
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala)
|
rs746447569
|
0.00001
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
NM_017668.3(NDE1):c.948-3365C>T
|
rs374628714
|
0.00001
|
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter)
|
rs771831816
|
0.00001
|
NM_017763.6(RNF43):c.1165C>T (p.Arg389Cys)
|
rs747686258
|
0.00001
|
NM_017763.6(RNF43):c.1360C>T (p.Arg454Cys)
|
rs1055597951
|
0.00001
|
NM_017763.6(RNF43):c.1474G>A (p.Gly492Ser)
|
rs139561147
|
0.00001
|
NM_017763.6(RNF43):c.1654C>T (p.Arg552Cys)
|
rs746033324
|
0.00001
|
NM_017763.6(RNF43):c.1675A>C (p.Lys559Gln)
|
rs777723421
|
0.00001
|
NM_017763.6(RNF43):c.1735A>G (p.Arg579Gly)
|
rs745916751
|
0.00001
|
NM_017763.6(RNF43):c.1820C>T (p.Ser607Leu)
|
rs200066146
|
0.00001
|
NM_017763.6(RNF43):c.673C>T (p.Arg225Cys)
|
rs765548407
|
0.00001
|
NM_017763.6(RNF43):c.787G>A (p.Gly263Arg)
|
rs201914846
|
0.00001
|
NM_017763.6(RNF43):c.80G>A (p.Arg27His)
|
rs368379005
|
0.00001
|
NM_017763.6(RNF43):c.833A>T (p.Glu278Val)
|
rs772730824
|
0.00001
|
NM_017763.6(RNF43):c.985T>C (p.Ser329Pro)
|
rs1326711195
|
0.00001
|
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys)
|
rs370928571
|
0.00001
|
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu)
|
rs756794418
|
0.00001
|
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)
|
rs1253028633
|
0.00001
|
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)
|
rs1230867178
|
0.00001
|
NM_018006.5(TRMU):c.83-5C>T
|
rs758628820
|
0.00001
|
NM_018006.5(TRMU):c.879C>T (p.Pro293=)
|
rs781401971
|
0.00001
|
NM_018006.5(TRMU):c.941C>G (p.Ala314Gly)
|
rs760149424
|
0.00001
|
NM_018006.5(TRMU):c.954C>T (p.Pro318=)
|
rs758271660
|
0.00001
|
NM_018217.3(EDEM2):c.1271G>A (p.Arg424His)
|
rs996131573
|
0.00001
|
NM_020975.6(RET):c.*1112A>G
|
rs1353594500
|
0.00001
|
NM_020975.6(RET):c.*1533A>G
|
rs1838409564
|
0.00001
|
NM_020975.6(RET):c.*175C>G
|
rs886046990
|
0.00001
|
NM_020975.6(RET):c.-158G>A
|
rs886046984
|
0.00001
|
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)
|
rs144981275
|
0.00001
|
NM_020975.6(RET):c.1030G>A (p.Gly344Ser)
|
rs749883001
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
NM_020975.6(RET):c.1052T>A (p.Val351Glu)
|
rs749449032
|
0.00001
|
NM_020975.6(RET):c.1079G>A (p.Arg360Gln)
|
rs762472027
|
0.00001
|
NM_020975.6(RET):c.1090A>G (p.Ile364Val)
|
rs1308447836
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)
|
rs1394361948
|
0.00001
|
NM_020975.6(RET):c.1151C>G (p.Pro384Arg)
|
rs771679592
|
0.00001
|
NM_020975.6(RET):c.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
NM_020975.6(RET):c.1282G>A (p.Glu428Lys)
|
rs1327111345
|
0.00001
|
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)
|
rs763296134
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1756C>T (p.Leu586Phe)
|
rs777604634
|
0.00001
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
NM_020975.6(RET):c.1811C>T (p.Ala604Val)
|
rs1286776938
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.1903C>T (p.Arg635Cys)
|
rs377767410
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.199C>T (p.Arg67Cys)
|
rs749390385
|
0.00001
|
NM_020975.6(RET):c.2005A>G (p.Ile669Val)
|
rs776986585
|
0.00001
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_020975.6(RET):c.2164A>G (p.Lys722Glu)
|
rs1262183810
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2249C>G (p.Ala750Gly)
|
rs752830000
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
0.00001
|
NM_020975.6(RET):c.235C>T (p.Arg79Trp)
|
rs537523906
|
0.00001
|
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)
|
rs1352006130
|
0.00001
|
NM_020975.6(RET):c.236G>A (p.Arg79Gln)
|
rs1318325737
|
0.00001
|
NM_020975.6(RET):c.2496C>G (p.Ser832Arg)
|
rs764979358
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2887C>A (p.Leu963Ile)
|
rs864622603
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
NM_020975.6(RET):c.3027G>A (p.Met1009Ile)
|
rs1007307889
|
0.00001
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)
|
rs569004816
|
0.00001
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)
|
rs370756353
|
0.00001
|
NM_020975.6(RET):c.3184T>C (p.Tyr1062His)
|
rs138010639
|
0.00001
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)
|
rs776615468
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)
|
rs587780813
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
NM_020975.6(RET):c.432C>T (p.Arg144=)
|
rs756999107
|
0.00001
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_020975.6(RET):c.451A>G (p.Asn151Asp)
|
rs1837661067
|
0.00001
|
NM_020975.6(RET):c.464C>A (p.Pro155Gln)
|
rs999019810
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
NM_020975.6(RET):c.59C>A (p.Pro20Gln)
|
rs1837067697
|
0.00001
|
NM_020975.6(RET):c.602G>C (p.Ser201Thr)
|
rs898525501
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
NM_020975.6(RET):c.943A>C (p.Thr315Pro)
|
rs774637214
|
0.00001
|
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys)
|
rs758978508
|
0.00001
|
NM_020999.4(NEUROG3):c.413C>G (p.Thr138Arg)
|
rs1383940960
|
0.00001
|
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)
|
rs781030322
|
0.00001
|
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile)
|
rs1790880304
|
0.00001
|
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser)
|
rs773687726
|
0.00001
|
NM_022895.3(C12orf43):c.*1871A>G
|
rs1045819255
|
0.00001
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
NM_024079.5(ALG8):c.382A>G (p.Ile128Val)
|
rs111831728
|
0.00001
|
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val)
|
rs1447605154
|
0.00001
|
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln)
|
rs1553198250
|
0.00001
|
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala)
|
rs782132637
|
0.00001
|
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val)
|
rs782757612
|
0.00001
|
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg)
|
rs1403687128
|
0.00001
|
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)
|
rs782078365
|
0.00001
|
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)
|
rs797044475
|
0.00001
|
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg)
|
rs782254462
|
0.00001
|
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser)
|
rs1359085444
|
0.00001
|
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)
|
rs751299682
|
0.00001
|
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His)
|
rs1216790064
|
0.00001
|
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser)
|
rs886044278
|
0.00001
|
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu)
|
rs1283460236
|
0.00001
|
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)
|
rs139052054
|
0.00001
|
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)
|
rs781850215
|
0.00001
|
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala)
|
rs764669567
|
0.00001
|
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr)
|
rs1370844431
|
0.00001
|
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr)
|
rs766624616
|
0.00001
|
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp)
|
rs1553202314
|
0.00001
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)
|
rs1348407391
|
0.00001
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
rs371875379
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)
|
rs370468259
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)
|
rs1214293842
|
0.00001
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)
|
rs1060502733
|
0.00001
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys)
|
rs780397699
|
0.00001
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)
|
rs45504298
|
0.00001
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)
|
rs764669864
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln)
|
rs864622280
|
0.00001
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
rs759014440
|
0.00001
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
NM_025225.2(PNPLA3):c.-131C>G
|
rs2049901194
|
0.00001
|
NM_025225.3(PNPLA3):c.*176G>A
|
rs1410221181
|
0.00001
|
NM_025225.3(PNPLA3):c.*71T>G
|
rs886057601
|
0.00001
|
NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln)
|
rs768547361
|
0.00001
|
NM_025225.3(PNPLA3):c.980-14A>C
|
rs781212740
|
0.00001
|
NM_032830.3(UTP4):c.1002+15C>T
|
rs370811526
|
0.00001
|
NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp)
|
rs772154514
|
0.00001
|
NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe)
|
rs1031659078
|
0.00001
|
NM_032830.3(UTP4):c.1677G>T (p.Gln559His)
|
rs1963675848
|
0.00001
|
NM_032830.3(UTP4):c.739-6C>G
|
rs373200948
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter)
|
rs751748077
|
0.00001
|
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser)
|
rs1002989047
|
0.00001
|
NM_053025.4(MYLK):c.1618A>T (p.Thr540Ser)
|
rs927903236
|
0.00001
|
NM_053025.4(MYLK):c.161G>A (p.Gly54Glu)
|
rs767453947
|
0.00001
|
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr)
|
rs143403855
|
0.00001
|
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met)
|
rs368417112
|
0.00001
|
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg)
|
rs779602599
|
0.00001
|
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser)
|
rs554791878
|
0.00001
|
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val)
|
rs1229779040
|
0.00001
|
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe)
|
rs758697820
|
0.00001
|
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys)
|
rs1477764878
|
0.00001
|
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp)
|
rs372019566
|
0.00001
|
NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg)
|
rs1131691270
|
0.00001
|
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser)
|
rs568619953
|
0.00001
|
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser)
|
rs1285946380
|
0.00001
|
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp)
|
rs762375833
|
0.00001
|
NM_053025.4(MYLK):c.2899G>A (p.Val967Met)
|
rs201711566
|
0.00001
|
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu)
|
rs879643674
|
0.00001
|
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp)
|
rs756054110
|
0.00001
|
NM_053025.4(MYLK):c.301del (p.Arg101fs)
|
rs1280842278
|
0.00001
|
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr)
|
rs568590920
|
0.00001
|
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr)
|
rs748997552
|
0.00001
|
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys)
|
rs2063223394
|
0.00001
|
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys)
|
rs867887039
|
0.00001
|
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe)
|
rs777876067
|
0.00001
|
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala)
|
rs766218230
|
0.00001
|
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)
|
rs774553050
|
0.00001
|
NM_053025.4(MYLK):c.376A>G (p.Ser126Gly)
|
rs754859097
|
0.00001
|
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys)
|
rs765252740
|
0.00001
|
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp)
|
rs141271656
|
0.00001
|
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys)
|
rs2059418764
|
0.00001
|
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His)
|
rs745547260
|
0.00001
|
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys)
|
rs761390691
|
0.00001
|
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln)
|
rs1397757032
|
0.00001
|
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met)
|
rs746213310
|
0.00001
|
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)
|
rs369511530
|
0.00001
|
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn)
|
rs746327636
|
0.00001
|
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile)
|
rs368231398
|
0.00001
|
NM_080424.4(SP110):c.*203A>T
|
rs79681285
|
0.00001
|
NM_080424.4(SP110):c.1019C>T (p.Thr340Ile)
|
rs752428563
|
0.00001
|
NM_080424.4(SP110):c.1031G>A (p.Arg344Gln)
|
rs144163010
|
0.00001
|
NM_080424.4(SP110):c.1067C>T (p.Ser356Leu)
|
rs775810248
|
0.00001
|
NM_080424.4(SP110):c.1201G>A (p.Asp401Asn)
|
rs761627243
|
0.00001
|
NM_080424.4(SP110):c.1219G>C (p.Glu407Gln)
|
rs201353625
|
0.00001
|
NM_080424.4(SP110):c.1256G>A (p.Cys419Tyr)
|
rs200721134
|
0.00001
|
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg)
|
rs751347896
|
0.00001
|
NM_080424.4(SP110):c.1319G>A (p.Arg440Lys)
|
rs201014289
|
0.00001
|
NM_080424.4(SP110):c.1373A>T (p.Asp458Val)
|
rs754679838
|
0.00001
|
NM_080424.4(SP110):c.1396G>A (p.Val466Met)
|
rs900500193
|
0.00001
|
NM_080424.4(SP110):c.1448-6T>G
|
rs201866278
|
0.00001
|
NM_080424.4(SP110):c.1448G>A (p.Gly483Glu)
|
rs534248634
|
0.00001
|
NM_080424.4(SP110):c.1469G>A (p.Arg490Gln)
|
rs760017935
|
0.00001
|
NM_080424.4(SP110):c.1591-6T>G
|
rs200317062
|
0.00001
|
NM_080424.4(SP110):c.1601C>T (p.Ser534Leu)
|
rs547427992
|
0.00001
|
NM_080424.4(SP110):c.1639C>G (p.Leu547Val)
|
rs376116343
|
0.00001
|
NM_080424.4(SP110):c.1649G>A (p.Gly550Asp)
|
rs761714428
|
0.00001
|
NM_080424.4(SP110):c.1661G>A (p.Arg554Gln)
|
rs199745658
|
0.00001
|
NM_080424.4(SP110):c.1707-9A>G
|
rs1408172912
|
0.00001
|
NM_080424.4(SP110):c.1708A>G (p.Met570Val)
|
rs547677489
|
0.00001
|
NM_080424.4(SP110):c.1900G>A (p.Gly634Ser)
|
rs200027337
|
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.1955C>T (p.Thr652Met)
|
rs372023963
|
0.00001
|
NM_080424.4(SP110):c.196C>T (p.His66Tyr)
|
rs370656079
|
0.00001
|
NM_080424.4(SP110):c.2092G>A (p.Val698Met)
|
rs765155471
|
0.00001
|
NM_080424.4(SP110):c.2135T>G (p.Leu712Arg)
|
rs757369735
|
0.00001
|
NM_080424.4(SP110):c.338A>G (p.Gln113Arg)
|
rs577324370
|
0.00001
|
NM_080424.4(SP110):c.342C>A (p.Ser114Arg)
|
rs1559178549
|
0.00001
|
NM_080424.4(SP110):c.407C>T (p.Pro136Leu)
|
rs768753285
|
0.00001
|
NM_080424.4(SP110):c.463A>G (p.Arg155Gly)
|
rs1441620017
|
0.00001
|
NM_080424.4(SP110):c.518C>T (p.Ser173Leu)
|
rs41552315
|
0.00001
|
NM_080424.4(SP110):c.550C>T (p.Pro184Ser)
|
rs750052870
|
0.00001
|
NM_080424.4(SP110):c.671C>G (p.Ala224Gly)
|
rs754038132
|
0.00001
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
NM_080424.4(SP110):c.740G>A (p.Gly247Asp)
|
rs900156609
|
0.00001
|
NM_080424.4(SP110):c.751G>C (p.Glu251Gln)
|
rs199507633
|
0.00001
|
NM_080424.4(SP110):c.826A>G (p.Lys276Glu)
|
rs2044285386
|
0.00001
|
NM_080424.4(SP110):c.829+10G>A
|
rs759280256
|
0.00001
|
NM_080424.4(SP110):c.877A>G (p.Lys293Glu)
|
rs199845488
|
0.00001
|
NM_080424.4(SP110):c.900G>A (p.Gly300=)
|
rs886055765
|
0.00001
|
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)
|
rs886052754
|
0.00001
|
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser)
|
rs374179004
|
0.00001
|
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=)
|
rs782480845
|
0.00001
|
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)
|
rs774865280
|
0.00001
|
NM_138694.4(PKHD1):c.4475C>T (p.Ser1492Phe)
|
rs775363465
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)
|
rs1313891453
|
0.00001
|
NM_144997.7(FLCN):c.1315G>A (p.Val439Met)
|
rs112980409
|
0.00001
|
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)
|
rs759637055
|
0.00001
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)
|
rs201056799
|
0.00001
|
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
|
rs778275358
|
0.00001
|
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)
|
rs779900587
|
0.00001
|
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)
|
rs773648142
|
0.00001
|
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)
|
rs746556970
|
0.00001
|
NM_144997.7(FLCN):c.251G>T (p.Gly84Val)
|
rs1386417463
|
0.00001
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
NM_144997.7(FLCN):c.451G>A (p.Val151Met)
|
rs147164515
|
0.00001
|
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)
|
rs1040675580
|
0.00001
|
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)
|
rs765251703
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)
|
rs1407566775
|
0.00001
|
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln)
|
rs756807584
|
0.00001
|
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)
|
rs370074267
|
0.00001
|
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)
|
rs371401039
|
0.00001
|
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)
|
rs898441209
|
0.00001
|
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)
|
rs748031634
|
0.00001
|
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)
|
rs770027312
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys)
|
rs772671793
|
0.00001
|
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)
|
rs1202378531
|
0.00001
|
NM_175914.5(HNF4A):c.*2511A>G
|
rs1277613130
|
0.00001
|
NM_175914.5(HNF4A):c.*2558T>C
|
rs886056688
|
0.00001
|
NM_175914.5(HNF4A):c.*2639T>G
|
rs886056690
|
0.00001
|
NM_175914.5(HNF4A):c.*3120T>C
|
rs886056704
|
0.00001
|
NM_175914.5(HNF4A):c.*765G>A
|
rs886056681
|
0.00001
|
NM_175914.5(HNF4A):c.*782G>A
|
rs886056682
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala)
|
rs201319115
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)
|
rs1413742263
|
0.00001
|
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)
|
rs150776703
|
0.00001
|
NM_175914.5(HNF4A):c.196G>A (p.Val66Met)
|
rs369182343
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser)
|
rs760038979
|
0.00001
|
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)
|
rs779555087
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.582+4A>G
|
rs376287515
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.723G>C (p.Arg241=)
|
rs372639360
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.811A>G (p.Ile271Val)
|
rs1270743847
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
NM_175914.5(HNF4A):c.901A>G (p.Ile301Val)
|
rs920346355
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_207034.1(EDN3):c.*1546T>C
|
rs574618871
|
0.00001
|
NM_207034.3(EDN3):c.*1398C>T
|
rs886056890
|
0.00001
|
NM_207034.3(EDN3):c.*476G>A
|
rs1292701180
|
0.00001
|
NM_207034.3(EDN3):c.*679A>G
|
rs886056885
|
0.00001
|
NM_207034.3(EDN3):c.543-7C>T
|
rs886056874
|
0.00001
|
NM_207034.3(EDN3):c.685C>T (p.Pro229Ser)
|
rs757559436
|
0.00001
|
46;XX;inv(14)(q24.1q32.1)dn
|
|
|
46;XX;t(1;13)(q11.2;p11.2)dn
|
|
|
46;XY;t(1;6)(q23;q13)dn
|
|
|
46;XY;t(3;4)(q25.3;q21.3)
|
|
|
GCK:c.864-159_864-149del
|
rs386134235
|
|
GRCh37/hg19 10q26.12-26.13(chr10:122608791-123684530)x64
|
|
|
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
|
|
|
GRCh37/hg19 15q12(chr15:27462869-27544157)
|
|
|
GRCh37/hg19 15q26.3(chr15:100923767-101626187)
|
|
|
GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1
|
|
|
GRCh37/hg19 2q12.1(chr2:103090517-103148433)
|
|
|
GRCh37/hg19 7q34(chr7:139478979-139550968)
|
|
|
GRCh38/hg38 12p12.3(chr12:15466904-15470698)
|
|
|
GRCh38/hg38 1p36.21(chr1:15438455-15438514)
|
|
|
MHS6:c.3647-65_3647-61del
|
rs3136363
|
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_15764902)_(15773084_?)dup
|
|
|
NC_000001.10:g.(?_15764951)_(15773094_?)dup
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_206941981)_(208391267_?)dup
|
|
|
NC_000001.10:g.3776519_4049451dup
|
|
|
NC_000001.11:g.(?_160816880)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000001.11:g.152313740_152351227dup
|
|
|
NC_000001.11:g.15445598_15445607del
|
|
|
NC_000001.11:g.185140652_185163497dup
|
|
|
NC_000001.11:g.25389184_25418273dup
|
|
|
NC_000002.11:g.(?_189839216)_(192012929_?)dup
|
|
|
NC_000002.11:g.(?_191843562)_(191845415_?)del
|
|
|
NC_000002.11:g.(?_231033820)_(231086456_?)dup
|
|
|
NC_000002.11:g.(?_231048268)_(231086456_?)dup
|
|
|
NC_000002.11:g.(?_38121051)_(47710088_?)dup
|
|
|
NC_000002.11:g.(?_47596287)_(47596720_?)dup
|
|
|
NC_000002.11:g.(?_47596287)_(47604216_?)dup
|
|
|
NC_000002.11:g.(?_47596287)_(47614167_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(47596730_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(47607118_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(47613762_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(47630551_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(47710098_?)dup
|
|
|
NC_000002.11:g.(?_47596635)_(48034009_?)dup
|
|
|
NC_000002.11:g.(?_47596639)_(47613758_?)dup
|
|
|
NC_000002.11:g.(?_47596645)_(47596730_?)dup
|
|
|
NC_000002.11:g.(?_47596645)_(47602448_?)dup
|
|
|
NC_000002.11:g.(?_47596645)_(47604226_?)dup
|
|
|
NC_000002.11:g.(?_47596645)_(47672816_?)dup
|
|
|
NC_000002.11:g.(?_47606898)_(47710098_?)dup
|
|
|
NC_000002.11:g.(?_47606898)_(47710120_?)dup
|
|
|
NC_000002.11:g.(?_47612295)_(47613752_?)dup
|
|
|
NC_000002.11:g.(?_47630150)_(47630551_?)dup
|
|
|
NC_000002.11:g.(?_47630150)_(47657090_?)dup
|
|
|
NC_000002.11:g.(?_47630150)_(48035526_?)dup
|
|
|
NC_000002.11:g.(?_47630252)_(47637521_?)dup
|
|
|
NC_000002.11:g.(?_47630252)_(47657090_?)dup
|
|
|
NC_000002.11:g.(?_47630252)_(47708030_?)dup
|
|
|
NC_000002.11:g.(?_47630252)_(47710088_?)dup
|
|
|
NC_000002.11:g.(?_47635530)_(47710098_?)dup
|
|
|
NC_000002.11:g.(?_47635534)_(47657086_?)dup
|
|
|
NC_000002.11:g.(?_47643425)_(47672806_?)dup
|
|
|
NC_000002.11:g.(?_47656875)_(47710094_?)dup
|
|
|
NC_000002.11:g.(?_47690160)_(47708020_?)dup
|
|
|
NC_000002.11:g.(?_47690160)_(47710120_?)dup
|
|
|
NC_000002.11:g.(?_47698094)_(47710098_?)dup
|
|
|
NC_000002.11:g.(?_47698104)_(47710367_?)dup
|
|
|
NC_000002.11:g.(?_47707825)_(47710098_?)dup
|
|
|
NC_000002.11:g.(?_47707825)_(47710120_?)dup
|
|
|
NC_000002.11:g.(?_48010221)_(48010632_?)dup
|
|
|
NC_000002.11:g.(?_48010221)_(48032166_?)dup
|
|
|
NC_000002.11:g.(?_48010363)_(48010642_?)dup
|
|
|
NC_000002.11:g.(?_48010363)_(48018272_?)dup
|
|
|
NC_000002.11:g.(?_48010363)_(48034009_?)dup
|
|
|
NC_000002.11:g.(?_48010367)_(48033796_?)dup
|
|
|
NC_000002.11:g.(?_48010367)_(48034005_?)dup
|
|
|
NC_000002.11:g.(?_48010373)_(48023222_?)dup
|
|
|
NC_000002.11:g.(?_48018056)_(48034014_?)dup
|
|
|
NC_000002.11:g.(?_48018060)_(48034005_?)dup
|
|
|
NC_000002.11:g.(?_48023023)_(48035526_?)dup
|
|
|
NC_000002.11:g.(?_48032572)_(48032937_?)dup
|
|
|
NC_000002.11:g.102658576_102847088dup
|
|
|
NC_000002.11:g.10664398_10914786dup
|
|
|
NC_000002.11:g.177128475_177259979dup
|
|
|
NC_000002.11:g.206875802_207000559del
|
|
|
NC_000002.12:g.(?_190970683)_(190970737_?)dup
|
|
|
NC_000002.12:g.(?_47369496)_(47429951_?)dup
|
|
|
NC_000002.12:g.(?_47369506)_(47379979_?)dup
|
|
|
NC_000002.12:g.(?_47369506)_(47386613_?)dup
|
|
|
NC_000002.12:g.(?_47369506)_(47466818_?)dup
|
|
|
NC_000002.12:g.(?_47369506)_(47482981_?)dup
|
|
|
NC_000002.12:g.(?_47379759)_(47379979_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47408565_?)dup
|
|
|
NC_000002.12:g.(?_47442337)_(47808387_?)dup
|
|
|
NC_000002.12:g.(?_47470955)_(47482981_?)dup
|
|
|
NC_000002.12:g.(?_47482769)_(47482981_?)dup
|
|
|
NC_000002.12:g.(?_47482779)_(47482949_?)del
|
|
|
NC_000002.12:g.(?_47783234)_(47783503_?)dup
|
|
|
NC_000002.12:g.(?_47783234)_(47791133_?)dup
|
|
|
NC_000002.12:g.(?_47783234)_(47796073_?)dup
|
|
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NC_000002.12:g.(?_47783234)_(47805037_?)dup
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NC_000002.12:g.(?_47783234)_(47808387_?)dup
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NC_000002.12:g.(?_47790917)_(47806870_?)dup
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NC_000002.12:g.(?_47790917)_(47808387_?)dup
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NC_000002.12:g.(?_9490157)_(9555625_?)dup
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NC_000002.12:g.(?_9509959)_(9510151_?)dup
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NC_000002.12:g.215349854_215435010del
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NC_000002.12:g.47806205_47806210del
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NC_000003.11:g.(?_37034542)_(37035260_?)dup
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NC_000003.11:g.(?_37034542)_(37092154_?)dup
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NC_000003.11:g.(?_37042440)_(37092150_?)dup
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NC_000003.11:g.(?_37050291)_(37061964_?)dup
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NC_000003.11:g.(?_37055917)_(37059096_?)dup
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NC_000003.11:g.(?_37083749)_(37092144_?)dup
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NC_000003.11:g.(?_37089000)_(37092154_?)dup
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NC_000003.11:g.(?_37089998)_(37092144_?)dup
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NC_000003.11:g.108481092_108926543del
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NC_000003.12:g.(?_36993051)_(36993673_?)dup
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NC_000003.12:g.(?_36993051)_(37050653_?)dup
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NC_000003.12:g.(?_37047509)_(37050653_?)dup
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NC_000003.12:g.138009002_138059513del
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NC_000003.12:g.146056770_146083362dup
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NC_000003.12:g.57429239_57506648del
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NC_000004.11:g.(?_108816710)_(108955513_?)dup
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NC_000004.11:g.(?_108911069)_(108955533_?)dup
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NC_000004.11:g.(?_169815658)_(169819885_?)del
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NC_000004.11:g.(?_41747824)_(41750627_?)dup
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NC_000004.11:g.(?_55094349)_(55127589_?)dup
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NC_000004.11:g.(?_55094349)_(55143669_?)dup
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NC_000004.11:g.(?_55094349)_(55604723_?)dup
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NC_000004.11:g.(?_55124926)_(55151663_?)dup
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NC_000004.11:g.(?_55124926)_(55161449_?)dup
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NC_000004.11:g.(?_55124930)_(55161445_?)dup
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NC_000004.11:g.(?_55124936)_(55161473_?)dup
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NC_000004.11:g.(?_55124936)_(55604723_?)dup
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NC_000004.11:g.(?_55127252)_(55131226_?)del
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NC_000004.11:g.(?_55131076)_(55161473_?)dup
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NC_000004.11:g.(?_55133446)_(55136925_?)del
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NC_000004.11:g.(?_55140998)_(55161449_?)dup
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NC_000004.11:g.(?_55141008)_(55164412_?)dup
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NC_000004.11:g.(?_55143535)_(55161439_?)dup
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NC_000004.11:g.(?_55143545)_(55161473_?)dup
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NC_000004.11:g.(?_55153587)_(55604733_?)dup
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NC_000004.11:g.(?_55161282)_(55161473_?)del
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NC_000004.11:g.(?_55161282)_(55161473_?)dup
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NC_000004.11:g.(?_55522488)_(55604723_?)dup
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NC_000004.11:g.(?_55524095)_(55606881_?)dup
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NC_000004.11:g.(?_55524172)_(55524258_?)dup
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NC_000004.11:g.(?_55524172)_(55604733_?)dup
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NC_000004.11:g.(?_55524176)_(55604729_?)dup
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NC_000004.11:g.(?_55561668)_(55604723_?)dup
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NC_000004.11:g.(?_55561668)_(55604733_?)dup
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NC_000004.11:g.(?_55569884)_(55604729_?)dup
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NC_000004.11:g.(?_55589740)_(55604723_?)dup
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NC_000004.11:g.(?_55589740)_(55604733_?)dup
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NC_000004.11:g.(?_55593374)_(55604723_?)dup
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NC_000004.11:g.(?_55604585)_(55604723_?)del
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NC_000004.12:g.(?_168877882)_(168926395_?)dup
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NC_000004.12:g.(?_168877892)_(168926385_?)dup
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NC_000004.12:g.(?_54228182)_(54295306_?)dup
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NC_000004.12:g.(?_54258759)_(54658091_?)dup
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NC_000004.12:g.(?_54258769)_(54261422_?)del
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NC_000004.12:g.(?_54270623)_(54295282_?)dup
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NC_000004.12:g.(?_54274831)_(54295306_?)dup
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NC_000004.12:g.(?_54280306)_(54280492_?)dup
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NC_000004.12:g.(?_54656321)_(54658091_?)dup
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NC_000004.12:g.(?_54731318)_(54738557_?)dup
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NC_000004.12:g.158674880_158700204del
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NC_000005.9:g.(?_147204204)_(147211355_?)dup
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NC_000005.9:g.(?_147204224)_(147211355_?)dup
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NC_000006.11:g.(?_24174958)_(24178880_?)dup
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NC_000006.12:g.22008001_22092880del
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NC_000007.13:g.(?_142456998)_(142457385_?)del
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NC_000007.13:g.(?_142457336)_(142460871_?)del
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NC_000007.13:g.(?_142458396)_(142460871_?)del
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NC_000007.13:g.(?_142458396)_(142460871_?)dup
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NC_000007.13:g.(?_142459625)_(142460927_?)dup
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NC_000007.13:g.(?_142460272)_(142460871_?)del
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NC_000007.13:g.(?_142460272)_(142460871_?)dup
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NC_000007.13:g.(?_6013020)_(6022632_?)dup
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NC_000007.13:g.(?_6013024)_(6022628_?)dup
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NC_000007.13:g.(?_6013030)_(6013183_?)dup
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NC_000007.13:g.(?_6013030)_(6017398_?)dup
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NC_000007.13:g.(?_6013030)_(6022642_?)dup
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NC_000007.13:g.(?_6017209)_(6017398_?)dup
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NC_000007.13:g.(?_6018217)_(6018337_?)dup
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NC_000007.13:g.(?_6018217)_(6022632_?)dup
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NC_000007.13:g.(?_6022445)_(6022632_?)dup
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NC_000007.13:g.(?_6026369)_(6026833_?)del
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NC_000007.13:g.(?_6026380)_(6037064_?)dup
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NC_000007.13:g.(?_6026380)_(6038916_?)dup
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NC_000007.13:g.(?_6026380)_(6042277_?)dup
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NC_000007.13:g.(?_6026380)_(6048660_?)dup
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NC_000007.13:g.(?_6026384)_(6048656_?)dup
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NC_000007.13:g.(?_6031594)_(6043699_?)dup
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NC_000007.13:g.(?_6031594)_(6048660_?)dup
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NC_000007.13:g.(?_6031594)_(6049099_?)dup
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NC_000007.13:g.(?_6035155)_(6049099_?)dup
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NC_000007.13:g.(?_6036937)_(6098714_?)dup
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NC_000007.13:g.(?_6042074)_(6049099_?)dup
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NC_000007.13:g.(?_6042078)_(6048656_?)dup
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NC_000007.13:g.(?_6045513)_(6049099_?)dup
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NC_000007.13:g.(?_6048556)_(6049099_?)dup
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NC_000007.13:g.(?_6048618)_(6049099_?)dup
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NC_000007.13:g.151797921_152258693dup
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NC_000007.13:g.3627221_3759274del
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NC_000007.13:g.4736454_4860123dup
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NC_000007.13:g.4929022_5218030dup
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NC_000007.13:g.5239584_5401976dup
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NC_000007.13:g.95845896_96004178del
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NC_000007.14:g.(?_142749281)_(142753040_?)del
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NC_000007.14:g.(?_5973389)_(5978706_?)dup
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NC_000007.14:g.(?_5977582)_(5978702_?)del
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NC_000007.14:g.142749147T>G
|
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NC_000008.10:g.95186036_95301703dup
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NC_000010.10:g.(?_88514773)_(88598738_?)dup
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NC_000010.10:g.(?_88514773)_(88683486_?)dup
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NC_000010.10:g.(?_88598623)_(88603267_?)dup
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NC_000010.10:g.(?_88598623)_(88649987_?)dup
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NC_000010.10:g.(?_88598623)_(88659893_?)dup
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NC_000010.10:g.(?_88598623)_(88683482_?)dup
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NC_000010.10:g.(?_88598623)_(88683486_?)dup
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NC_000010.10:g.(?_88603164)_(88651992_?)dup
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NC_000010.10:g.(?_88635625)_(88651996_?)dup
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NC_000010.10:g.(?_88635625)_(88683476_?)dup
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NC_000010.10:g.(?_88659541)_(88683476_?)dup
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NC_000010.10:g.(?_88659541)_(88683486_?)dup
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NC_000010.10:g.(?_88676885)_(88683482_?)dup
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NC_000010.10:g.(?_88811508)_(88822612_?)dup
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NC_000010.10:g.(?_88854062)_(88854526_?)del
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NC_000010.11:g.(?_86755016)_(86756919_?)dup
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NC_000010.11:g.(?_86755016)_(86923719_?)dup
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NC_000010.11:g.(?_86755016)_(86923725_?)dup
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NC_000010.11:g.(?_86838866)_(86838981_?)del
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NC_000010.11:g.(?_86838866)_(86843510_?)del
|
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NC_000010.11:g.(?_86838866)_(86923719_?)dup
|
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NC_000011.10:g.17476889C>A
|
rs886048056
|
|
NC_000011.10:g.17477161C>A
|
rs1052653345
|
|
NC_000011.9:g.(?_116691583)_(121500272_?)dup
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NC_000011.9:g.(?_117856768)_(118972385_?)dup
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NC_000012.11:g.128208742_128917555dup
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NC_000012.11:g.80598919_80836812del
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NC_000012.11:g.94767704_94880489del
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NC_000012.12:g.9092896_9155947dup
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NC_000014.8:g.(?_75483779)_(75516364_?)dup
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NC_000014.8:g.(?_75483785)_(75516358_?)del
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NC_000014.8:g.(?_75489507)_(75489731_?)del
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NC_000014.8:g.(?_75497226)_(75498902_?)del
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NC_000014.8:g.(?_75498761)_(75500203_?)del
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NC_000015.10:g.(?_32672539)_(32679935_?)dup
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NC_000015.10:g.(?_32672688)_(32731245_?)dup
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NC_000015.10:g.(?_32694020)_(32731255_?)dup
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NC_000015.10:g.(?_32696494)_(32718535_?)dup
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NC_000015.10:g.(?_32696494)_(32731245_?)dup
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NC_000015.10:g.80234873_80310800dup
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NC_000015.9:g.(?_31196867)_(34112028_?)dup
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NC_000015.9:g.(?_32393486)_(34030811_?)dup
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NC_000015.9:g.(?_32964740)_(32988830_?)dup
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NC_000015.9:g.(?_32964740)_(33002449_?)dup
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NC_000015.9:g.(?_32964740)_(33004759_?)dup
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NC_000015.9:g.(?_32964740)_(33023456_?)dup
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NC_000015.9:g.(?_32964839)_(33004986_?)dup
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NC_000015.9:g.(?_32964879)_(91358519_?)dup
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NC_000015.9:g.(?_32964889)_(32976890_?)dup
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NC_000015.9:g.(?_32964889)_(32988830_?)dup
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NC_000015.9:g.(?_32964889)_(32994756_?)dup
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NC_000015.9:g.(?_32964889)_(33004937_?)dup
|
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NC_000015.9:g.(?_32964889)_(33009478_?)dup
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NC_000015.9:g.(?_32964889)_(33010412_?)dup
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NC_000015.9:g.(?_32964889)_(33010736_?)dup
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NC_000015.9:g.(?_32964889)_(33012502_?)dup
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NC_000015.9:g.(?_32964889)_(33878337_?)dup
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NC_000015.9:g.(?_32971947)_(33023446_?)dup
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NC_000015.9:g.(?_32976738)_(33023446_?)dup
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NC_000015.9:g.(?_32976738)_(33023456_?)dup
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NC_000015.9:g.(?_32976738)_(33023486_?)dup
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NC_000015.9:g.(?_32983891)_(32988830_?)dup
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NC_000015.9:g.(?_32983891)_(33023446_?)dup
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NC_000015.9:g.(?_32988695)_(33004759_?)dup
|
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NC_000015.9:g.(?_33004838)_(33004937_?)dup
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NC_000015.9:g.62409198_62521004dup
|
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NC_000016.10:g.(?_68787043)_(68833499_?)dup
|
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NC_000016.9:g.(?_68679283)_(68857549_?)dup
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NC_000016.9:g.(?_68771309)_(68772324_?)dup
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NC_000016.9:g.(?_68771309)_(68867412_?)dup
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NC_000016.9:g.(?_68771313)_(68772320_?)dup
|
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NC_000016.9:g.(?_68771319)_(68867402_?)dup
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NC_000016.9:g.(?_68835559)_(68867794_?)dup
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NC_000016.9:g.(?_68835563)_(68867412_?)dup
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NC_000016.9:g.(?_68835567)_(68867408_?)dup
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NC_000016.9:g.(?_68842317)_(68867402_?)dup
|
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|
NC_000016.9:g.(?_68867187)_(68867408_?)dup
|
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NC_000018.10:g.(?_51030213)_(51030623_?)del
|
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NC_000018.10:g.(?_51030213)_(51078467_?)dup
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NC_000018.10:g.48229615_48261302dup
|
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NC_000018.10:g.6335543_6430945dup
|
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|
NC_000018.10:g.6454094_6548625dup
|
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|
NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9]
|
rs45445694
|
|
NC_000018.9:g.(?_48556583)_(48556993_?)dup
|
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|
NC_000018.9:g.(?_48556583)_(48603156_?)dup
|
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NC_000018.9:g.(?_48556583)_(48604847_?)dup
|
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NC_000018.9:g.(?_48603002)_(48604843_?)dup
|
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NC_000018.9:g.(?_48603008)_(48611412_?)dup
|
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NC_000018.9:g.65699090_66534856dup
|
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NC_000019.9:g.(?_39205089)_(40913839_?)dup
|
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NC_000020.10:g.(?_10579323)_(11009878_?)dup
|
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NC_000020.10:g.(?_7812350)_(10654278_?)dup
|
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NC_000021.8:g.(?_34638751)_(34668714_?)dup
|
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NC_000021.8:g.(?_34668469)_(34668662_?)dup
|
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NC_000022.10:g.(?_32439269)_(32464607_?)dup
|
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NC_000022.10:g.(?_32439269)_(32506200_?)dup
|
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NC_000022.10:g.(?_32477833)_(32506200_?)dup
|
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NC_000022.10:g.(?_32500753)_(32894517_?)dup
|
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NC_000022.10:g.21802791_22555544dup
|
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|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
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|
NC_000023.10:g.(?_48932462)_(49840657_?)dup
|
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|
NC_000023.11:g.18905859_18905861del
|
rs2047801126
|
|
NC_000023.11:g.3266860_3322912dup
|
|
|
NC_000023.11:g.95154038_95191395del
|
|
|
NC_012920.1:m.9355A>T
|
rs1556423663
|
|
NG_031835.1(PPID):g.103322_138659del
|
|
|
NM_000031.5(ALAD):c.-157_-156insCG
|
rs879417667
|
|
NM_000031.5(ALAD):c.-162_-159dup
|
rs143518565
|
|
NM_000031.6(ALAD):c.*1007G>A
|
rs8177823
|
|
NM_000031.6(ALAD):c.*106C>G
|
rs8177820
|
|
NM_000031.6(ALAD):c.*1280G>A
|
rs190137021
|
|
NM_000031.6(ALAD):c.*1280G>C
|
rs190137021
|
|
NM_000031.6(ALAD):c.*12C>T
|
rs1827462434
|
|
NM_000031.6(ALAD):c.*1322G>A
|
rs11789221
|
|
NM_000031.6(ALAD):c.*1470G>A
|
rs886063360
|
|
NM_000031.6(ALAD):c.*1671A>T
|
rs1827403039
|
|
NM_000031.6(ALAD):c.*1675C>T
|
rs756771103
|
|
NM_000031.6(ALAD):c.*1741G>A
|
rs886063358
|
|
NM_000031.6(ALAD):c.*1787A>C
|
rs1588080129
|
|
NM_000031.6(ALAD):c.*1804T>C
|
rs1327333635
|
|
NM_000031.6(ALAD):c.*1864A>C
|
rs886063357
|
|
NM_000031.6(ALAD):c.*1915del
|
rs886063356
|
|
NM_000031.6(ALAD):c.*234G>A
|
rs1023159630
|
|
NM_000031.6(ALAD):c.*438G>C
|
rs886063362
|
|
NM_000031.6(ALAD):c.*459_*463del
|
rs886063361
|
|
NM_000031.6(ALAD):c.*676dup
|
rs532401659
|
|
NM_000031.6(ALAD):c.*760T>C
|
rs1827430851
|
|
NM_000031.6(ALAD):c.*920C>T
|
rs1827424865
|
|
NM_000031.6(ALAD):c.1A>G (p.Met1Val)
|
rs752500552
|
|
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
|
|
|
NM_000031.6(ALAD):c.446G>A (p.Arg149Gln)
|
rs528493383
|
|
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys)
|
rs758622234
|
|
NM_000031.6(ALAD):c.910A>G (p.Met304Val)
|
rs1588081960
|
|
NM_000031.6(ALAD):c.931+15G>A
|
rs886063364
|
|
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)
|
rs1557247532
|
|
NM_000038.6(APC):c.10G>C (p.Ala4Pro)
|
rs774219012
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
NM_000038.6(APC):c.1374T>C (p.Phe458=)
|
rs2149792451
|
|
NM_000038.6(APC):c.1463T>C (p.Leu488Pro)
|
rs368434773
|
|
NM_000038.6(APC):c.1592C>G (p.Ala531Gly)
|
rs755879124
|
|
NM_000038.6(APC):c.1703G>T (p.Ser568Ile)
|
rs962373452
|
|
NM_000038.6(APC):c.1744-4C>G
|
rs772745309
|
|
NM_000038.6(APC):c.1904G>A (p.Gly635Glu)
|
rs730881239
|
|
NM_000038.6(APC):c.1993_1994del (p.Leu665fs)
|
rs1580617349
|
|
NM_000038.6(APC):c.2160G>A (p.Met720Ile)
|
rs1283428855
|
|
NM_000038.6(APC):c.2190G>A (p.Met730Ile)
|
rs1281171015
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
NM_000038.6(APC):c.2558A>G (p.Glu853Gly)
|
rs1554084263
|
|
NM_000038.6(APC):c.2573T>C (p.Ile858Thr)
|
rs1765215022
|
|
NM_000038.6(APC):c.2658G>T (p.Gln886His)
|
rs587780593
|
|
NM_000038.6(APC):c.2789C>T (p.Thr930Ile)
|
rs1580627038
|
|
NM_000038.6(APC):c.2819C>T (p.Ser940Leu)
|
rs544709767
|
|
NM_000038.6(APC):c.2986A>G (p.Ser996Gly)
|
rs1554084628
|
|
NM_000038.6(APC):c.3067dup (p.Thr1023fs)
|
rs876658724
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
NM_000038.6(APC):c.3160C>T (p.His1054Tyr)
|
rs1195583636
|
|
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)
|
rs1580633119
|
|
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)
|
rs372855304
|
|
NM_000038.6(APC):c.3381G>C (p.Gln1127His)
|
rs1554084977
|
|
NM_000038.6(APC):c.3490A>G (p.Ile1164Val)
|
rs1554085052
|
|
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys)
|
rs754067085
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala)
|
rs2149907365
|
|
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg)
|
rs2149907480
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly)
|
rs1303200783
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000038.6(APC):c.4440G>C (p.Gln1480His)
|
rs876659881
|
|
NM_000038.6(APC):c.4658C>T (p.Ala1553Val)
|
rs1554086050
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
|
rs1554086219
|
|
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)
|
rs1554086241
|
|
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)
|
rs758987855
|
|
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)
|
rs587781600
|
|
NM_000038.6(APC):c.5026_5028del (p.Arg1676del)
|
rs768369050
|
|
NM_000038.6(APC):c.52A>G (p.Met18Val)
|
rs587782402
|
|
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn)
|
rs768922376
|
|
NM_000038.6(APC):c.5931A>G (p.Gln1977=)
|
rs975299630
|
|
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg)
|
rs1554087256
|
|
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)
|
rs1766164614
|
|
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)
|
rs786202975
|
|
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser)
|
rs745308565
|
|
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly)
|
rs1060503292
|
|
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)
|
rs773539706
|
|
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys)
|
rs1554087778
|
|
NM_000038.6(APC):c.6893C>T (p.Ala2298Val)
|
rs1554087829
|
|
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser)
|
rs1389311736
|
|
NM_000038.6(APC):c.7026A>T (p.Leu2342Phe)
|
rs766086022
|
|
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)
|
rs1561612604
|
|
NM_000038.6(APC):c.7447G>A (p.Val2483Ile)
|
rs1554088371
|
|
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)
|
rs199806334
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys)
|
rs1554088693
|
|
NM_000038.6(APC):c.7869A>G (p.Thr2623=)
|
rs775126492
|
|
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr)
|
rs1580687626
|
|
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser)
|
rs1195417407
|
|
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)
|
rs1766608503
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)
|
rs1060503332
|
|
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn)
|
rs1554089164
|
|
NM_000038.6(APC):c.876G>C (p.Leu292Phe)
|
rs760059672
|
|
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)
|
rs1064794124
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.7928-10T>G
|
rs188404773
|
|
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu)
|
rs1555152073
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5323G>C (p.Val1775Leu)
|
rs1555284171
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr)
|
rs431825366
|
|
NM_000059.4(BRCA2):c.8488-15A>G
|
rs775192142
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000090.4(COL3A1):c.80-489_3525+120del
|
|
|
NM_000097.7(CPOX):c.*1076G>A
|
rs775384142
|
|
NM_000097.7(CPOX):c.*1153G>C
|
rs886058941
|
|
NM_000097.7(CPOX):c.*183A>G
|
rs1707237180
|
|
NM_000097.7(CPOX):c.*745A>G
|
rs1707219701
|
|
NM_000097.7(CPOX):c.-10G>A
|
rs867711777
|
|
NM_000097.7(CPOX):c.-7C>G
|
rs1010766291
|
|
NM_000097.7(CPOX):c.1230A>G (p.Pro410=)
|
rs1707257247
|
|
NM_000097.7(CPOX):c.125G>C (p.Ser42Thr)
|
rs886058951
|
|
NM_000097.7(CPOX):c.130G>T (p.Ala44Ser)
|
rs886058950
|
|
NM_000097.7(CPOX):c.156C>G (p.Gly52=)
|
rs886058949
|
|
NM_000097.7(CPOX):c.348GGA[7] (p.Glu119_Glu120dup)
|
rs749870062
|
|
NM_000097.7(CPOX):c.458A>T (p.Glu153Val)
|
rs1707510560
|
|
NM_000097.7(CPOX):c.474G>C (p.Glu158Asp)
|
rs1707510266
|
|
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe)
|
rs1707508760
|
|
NM_000097.7(CPOX):c.811+14G>A
|
rs1707460318
|
|
NM_000097.7(CPOX):c.86A>C (p.Gln29Pro)
|
rs886058952
|
|
NM_000111.3(SLC26A3):c.*130C>T
|
rs886061898
|
|
NM_000111.3(SLC26A3):c.*196T>C
|
rs886061897
|
|
NM_000111.3(SLC26A3):c.-40C>T
|
rs187600896
|
|
NM_000111.3(SLC26A3):c.-88-9T>G
|
rs886061905
|
|
NM_000111.3(SLC26A3):c.-89+12A>G
|
rs1794624904
|
|
NM_000111.3(SLC26A3):c.-90A>G
|
rs554796886
|
|
NM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys)
|
rs1584407007
|
|
NM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln)
|
|
|
NM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu)
|
rs1794235862
|
|
NM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn)
|
rs886061901
|
|
NM_000111.3(SLC26A3):c.1482T>C (p.Phe494=)
|
rs1794152514
|
|
NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)
|
|
|
NM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro)
|
rs886061900
|
|
NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)
|
|
|
NM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn)
|
rs777491431
|
|
NM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe)
|
rs1794039116
|
|
NM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr)
|
rs886061899
|
|
NM_000111.3(SLC26A3):c.2272-3del
|
rs773346631
|
|
NM_000111.3(SLC26A3):c.261C>A (p.Ala87=)
|
rs202020458
|
|
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)
|
rs386833481
|
|
NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr)
|
rs1794395844
|
|
NM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr)
|
rs769586560
|
|
NM_000111.3(SLC26A3):c.570+8C>T
|
rs886061903
|
|
NM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr)
|
rs1794460895
|
|
NM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr)
|
rs1794359511
|
|
NM_000111.3(SLC26A3):c.738A>G (p.Val246=)
|
rs886061902
|
|
NM_000111.3(SLC26A3):c.842G>A (p.Arg281His)
|
|
|
NM_000111.3(SLC26A3):c.888+5T>C
|
rs1377104247
|
|
NM_000130.4(F5):c.-110C>A
|
rs886045552
|
|
NM_000130.5(F5):c.*104A>C
|
rs886045540
|
|
NM_000130.5(F5):c.*1301A>T
|
rs1557902119
|
|
NM_000130.5(F5):c.*1531C>T
|
rs1659060074
|
|
NM_000130.5(F5):c.*157A>T
|
rs886045539
|
|
NM_000130.5(F5):c.*1699G>T
|
rs537882111
|
|
NM_000130.5(F5):c.*1939T>C
|
rs886045535
|
|
NM_000130.5(F5):c.*2148C>T
|
rs369159875
|
|
NM_000130.5(F5):c.*2351C>A
|
rs542773186
|
|
NM_000130.5(F5):c.*366A>G
|
rs1659095114
|
|
NM_000130.5(F5):c.*400C>G
|
rs886045537
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
NM_000130.5(F5):c.1340C>G (p.Pro447Arg)
|
rs368387623
|
|
NM_000130.5(F5):c.1546G>T (p.Ala516Ser)
|
rs916286148
|
|
NM_000130.5(F5):c.1867A>G (p.Thr623Ala)
|
rs1571577319
|
|
NM_000130.5(F5):c.2042A>G (p.Asp681Gly)
|
rs886045550
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
NM_000130.5(F5):c.3261C>G (p.Pro1087=)
|
rs886045549
|
|
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)
|
rs1659859528
|
|
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr)
|
rs886045548
|
|
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr)
|
rs188882337
|
|
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala)
|
rs543751483
|
|
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)
|
rs1338927825
|
|
NM_000130.5(F5):c.374G>A (p.Gly125Asp)
|
rs760694648
|
|
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)
|
rs781371990
|
|
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)
|
rs112331368
|
|
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu)
|
rs147741798
|
|
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr)
|
rs1418336095
|
|
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu)
|
rs200676405
|
|
NM_000130.5(F5):c.4172T>C (p.Met1391Thr)
|
rs771458343
|
|
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg)
|
rs751749207
|
|
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu)
|
rs886045546
|
|
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln)
|
rs1194089741
|
|
NM_000130.5(F5):c.5209-12_5209-11del
|
rs886045545
|
|
NM_000130.5(F5):c.522C>T (p.Ser174=)
|
rs777533725
|
|
NM_000130.5(F5):c.5308G>A (p.Val1770Ile)
|
rs374815777
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
NM_000130.5(F5):c.5721T>C (p.Cys1907=)
|
rs886045543
|
|
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)
|
rs1659399281
|
|
NM_000130.5(F5):c.5789-7A>C
|
rs1659369778
|
|
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)
|
rs886045541
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
NM_000140.5(FECH):c.*1071C>G
|
rs886053992
|
|
NM_000140.5(FECH):c.*1170T>A
|
rs886053991
|
|
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA
|
rs886053988
|
|
NM_000140.5(FECH):c.*1173A>T
|
rs868017208
|
|
NM_000140.5(FECH):c.*1175G>A
|
rs886053990
|
|
NM_000140.5(FECH):c.*1176G>A
|
rs886053989
|
|
NM_000140.5(FECH):c.*1287_*1288insTTTA
|
rs59569925
|
|
NM_000140.5(FECH):c.*1348T>G
|
rs886053987
|
|
NM_000140.5(FECH):c.*136G>C
|
rs886053995
|
|
NM_000140.5(FECH):c.*1453T>C
|
rs886053986
|
|
NM_000140.5(FECH):c.*2436GTTTT[2]
|
rs886053981
|
|
NM_000140.5(FECH):c.*2451_*2452insG
|
rs1555678907
|
|
NM_000140.5(FECH):c.*2459_*2461dup
|
rs529946604
|
|
NM_000140.5(FECH):c.*3753_*3754insT
|
rs886053972
|
|
NM_000140.5(FECH):c.*3976C>T
|
rs886053970
|
|
NM_000140.5(FECH):c.*4598T>G
|
rs886053967
|
|
NM_000140.5(FECH):c.*5170T>C
|
rs886053966
|
|
NM_000140.5(FECH):c.*825T>C
|
rs886053993
|
|
NM_000140.5(FECH):c.229G>A (p.Gly77Arg)
|
rs2051141708
|
|
NM_000140.5(FECH):c.464-4A>G
|
rs1265864647
|
|
NM_000141.5(FGFR2):c.-17G>C
|
rs766629665
|
|
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA
|
rs2133978031
|
|
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)
|
rs1564875549
|
|
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)
|
rs771208561
|
|
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp)
|
rs1277734487
|
|
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)
|
rs2134317947
|
|
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr)
|
rs748526473
|
|
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)
|
rs1448029825
|
|
NM_000160.5(GCGR):c.701G>A (p.Gly234Asp)
|
|
|
NM_000162.5(GCK):c.*270C>T
|
rs886062348
|
|
NM_000162.5(GCK):c.*548G>A
|
rs886062347
|
|
NM_000162.5(GCK):c.*721C>T
|
rs886062346
|
|
NM_000162.5(GCK):c.*844A>C
|
rs886062344
|
|
NM_000162.5(GCK):c.-102G>C
|
rs781377703
|
|
NM_000162.5(GCK):c.-137C>G
|
rs2096324530
|
|
NM_000162.5(GCK):c.-396C>G
|
rs2096324894
|
|
NM_000162.5(GCK):c.-429G>A
|
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
NM_000162.5(GCK):c.-97G>A
|
|
|
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)
|
rs954171452
|
|
NM_000162.5(GCK):c.1019+16G>A
|
rs193922256
|
|
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile)
|
rs1376631949
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)
|
rs864321656
|
|
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)
|
rs1583592156
|
|
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)
|
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1099G>T (p.Val367Leu)
|
|
|
NM_000162.5(GCK):c.110T>A (p.Met37Lys)
|
|
|
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
|
rs1415041911
|
|
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
|
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
|
rs1131691505
|
|
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)
|
rs193929374
|
|
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly)
|
rs193922265
|
|
NM_000162.5(GCK):c.1139A>C (p.His380Pro)
|
rs2128819280
|
|
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
|
rs1376620210
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro)
|
|
|
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu)
|
rs1235227560
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
NM_000162.5(GCK):c.1254-13C>A
|
|
|
NM_000162.5(GCK):c.1254-20_1312del
|
rs2096270578
|
|
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)
|
rs1554334478
|
|
NM_000162.5(GCK):c.1255T>G (p.Phe419Val)
|
|
|
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
|
rs1257648811
|
|
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
|
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
|
|
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
|
rs193922274
|
|
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)
|
rs2096270699
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)
|
rs2096270423
|
|
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
|
|
|
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1312_1314del (p.Phe438del)
|
|
|
NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr)
|
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
|
|
|
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)
|
rs1583590383
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
NM_000162.5(GCK):c.1360del (p.Ala454fs)
|
rs1583590393
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del)
|
|
|
NM_000162.5(GCK):c.149A>T (p.His50Leu)
|
|
|
NM_000162.5(GCK):c.179C>T (p.Thr60Ile)
|
rs747783371
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
NM_000162.5(GCK):c.208+9T>A
|
rs193922288
|
|
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
|
|
|
NM_000162.5(GCK):c.255G>T (p.Arg85Ser)
|
rs1554335758
|
|
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
|
|
|
NM_000162.5(GCK):c.295T>C (p.Trp99Arg)
|
rs1554335751
|
|
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)
|
rs193922292
|
|
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
|
|
|
NM_000162.5(GCK):c.323A>T (p.Tyr108Phe)
|
|
|
NM_000162.5(GCK):c.356C>G (p.Ala119Gly)
|
|
|
NM_000162.5(GCK):c.360G>C (p.Glu120Asp)
|
|
|
NM_000162.5(GCK):c.363+10G>C
|
rs758495950
|
|
NM_000162.5(GCK):c.364-41dup
|
rs193922293
|
|
NM_000162.5(GCK):c.364-49dup
|
rs193922294
|
|
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)
|
|
|
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
|
|
|
NM_000162.5(GCK):c.3G>A (p.Met1Ile)
|
|
|
NM_000162.5(GCK):c.440G>A (p.Gly147Asp)
|
rs193922296
|
|
NM_000162.5(GCK):c.442T>A (p.Phe148Ile)
|
rs1554335582
|
|
NM_000162.5(GCK):c.443T>C (p.Phe148Ser)
|
|
|
NM_000162.5(GCK):c.45+11C>G
|
rs193922298
|
|
NM_000162.5(GCK):c.45+3A>G
|
rs1554340088
|
|
NM_000162.5(GCK):c.458C>A (p.Pro153His)
|
|
|
NM_000162.5(GCK):c.45G>A (p.Lys15=)
|
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
NM_000162.5(GCK):c.478G>C (p.Asp160His)
|
|
|
NM_000162.5(GCK):c.484G>A (p.Gly162Ser)
|
|
|
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
|
|
|
NM_000162.5(GCK):c.524G>C (p.Gly175Ala)
|
rs2128821624
|
|
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
|
|
|
NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu)
|
rs2096278772
|
|
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
|
|
|
NM_000162.5(GCK):c.554T>G (p.Leu185Arg)
|
rs1583599749
|
|
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
|
|
|
NM_000162.5(GCK):c.577G>C (p.Gly193Arg)
|
rs376050856
|
|
NM_000162.5(GCK):c.579+4del
|
|
|
NM_000162.5(GCK):c.57C>A (p.Ile19=)
|
rs193922308
|
|
NM_000162.5(GCK):c.580-3C>A
|
|
|
NM_000162.5(GCK):c.580-3del
|
|
|
NM_000162.5(GCK):c.580-9T>G
|
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
|
rs193922313
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
NM_000162.5(GCK):c.659G>T (p.Cys220Phe)
|
|
|
NM_000162.5(GCK):c.675C>G (p.Ile225Met)
|
rs772754004
|
|
NM_000162.5(GCK):c.675C>T (p.Ile225=)
|
rs772754004
|
|
NM_000162.5(GCK):c.676G>C (p.Val226Leu)
|
|
|
NM_000162.5(GCK):c.679+3A>T
|
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000162.5(GCK):c.680-94dup
|
rs193922321
|
|
NM_000162.5(GCK):c.680G>A (p.Gly227Asp)
|
rs2128820681
|
|
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
|
rs1332966015
|
|
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
|
|
|
NM_000162.5(GCK):c.709G>A (p.Glu237Lys)
|
rs1176858193
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.749G>C (p.Arg250Pro)
|
|
|
NM_000162.5(GCK):c.74T>A (p.Leu25Gln)
|
rs193922325
|
|
NM_000162.5(GCK):c.773G>A (p.Gly258Asp)
|
rs747662793
|
|
NM_000162.5(GCK):c.792C>A (p.Gly264=)
|
rs754094813
|
|
NM_000162.5(GCK):c.797T>A (p.Leu266Gln)
|
|
|
NM_000162.5(GCK):c.797T>C (p.Leu266Pro)
|
|
|
NM_000162.5(GCK):c.799G>C (p.Asp267His)
|
|
|
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)
|
rs2096275478
|
|
NM_000162.5(GCK):c.82G>A (p.Glu28Lys)
|
rs2128823215
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
NM_000162.5(GCK):c.863+3A>G
|
rs193922334
|
|
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
|
|
|
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)
|
rs2128820046
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe)
|
rs1057524892
|
|
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
|
rs1554334886
|
|
NM_000162.5(GCK):c.950A>C (p.His317Pro)
|
|
|
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)
|
rs1554334872
|
|
NM_000162.5(GCK):c.98T>A (p.Val33Glu)
|
rs1554335954
|
|
NM_000168.6(GLI3):c.4436T>C (p.Leu1479Ser)
|
rs1057519504
|
|
NM_000179.2(MSH6):c.-152-?_4001+?dup
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.*34G>C
|
rs184571812
|
|
NM_000179.3(MSH6):c.-41G>T
|
rs886056140
|
|
NM_000179.3(MSH6):c.-51G>T
|
rs375109921
|
|
NM_000179.3(MSH6):c.1000A>C (p.Lys334Gln)
|
|
|
NM_000179.3(MSH6):c.1000A>G (p.Lys334Glu)
|
|
|
NM_000179.3(MSH6):c.1001A>G (p.Lys334Arg)
|
rs1558660066
|
|
NM_000179.3(MSH6):c.1002G>T (p.Lys334Asn)
|
rs1669283147
|
|
NM_000179.3(MSH6):c.1006A>C (p.Thr336Pro)
|
rs1572721235
|
|
NM_000179.3(MSH6):c.1006A>G (p.Thr336Ala)
|
rs1572721235
|
|
NM_000179.3(MSH6):c.1009T>A (p.Leu337Met)
|
rs1669284367
|
|
NM_000179.3(MSH6):c.100G>A (p.Ala34Thr)
|
rs1553408194
|
|
NM_000179.3(MSH6):c.1010T>C (p.Leu337Ser)
|
rs1572721244
|
|
NM_000179.3(MSH6):c.1013G>T (p.Arg338Ile)
|
rs2104313445
|
|
NM_000179.3(MSH6):c.1014A>C (p.Arg338Ser)
|
|
|
NM_000179.3(MSH6):c.1015G>A (p.Ala339Thr)
|
|
|
NM_000179.3(MSH6):c.1016C>A (p.Ala339Asp)
|
rs587780669
|
|
NM_000179.3(MSH6):c.1016C>G (p.Ala339Gly)
|
rs587780669
|
|
NM_000179.3(MSH6):c.1016C>T (p.Ala339Val)
|
rs587780669
|
|
NM_000179.3(MSH6):c.1018T>C (p.Phe340Leu)
|
|
|
NM_000179.3(MSH6):c.101C>T (p.Ala34Val)
|
rs746624223
|
|
NM_000179.3(MSH6):c.1022C>A (p.Ser341Tyr)
|
rs766202031
|
|
NM_000179.3(MSH6):c.1027C>T (p.Pro343Ser)
|
rs1572721313
|
|
NM_000179.3(MSH6):c.1028C>A (p.Pro343His)
|
rs548898238
|
|
NM_000179.3(MSH6):c.1028C>G (p.Pro343Arg)
|
rs548898238
|
|
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del)
|
rs1553408197
|
|
NM_000179.3(MSH6):c.1030C>G (p.Gln344Glu)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1032A>C (p.Gln344His)
|
rs1572721339
|
|
NM_000179.3(MSH6):c.1034A>G (p.Asn345Ser)
|
rs864622377
|
|
NM_000179.3(MSH6):c.1035T>G (p.Asn345Lys)
|
rs765166082
|
|
NM_000179.3(MSH6):c.1036_1037delinsAA (p.Ser346Asn)
|
rs1669287149
|
|
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)
|
rs567785169
|
|
NM_000179.3(MSH6):c.103G>A (p.Ala35Thr)
|
rs1572698023
|
|
NM_000179.3(MSH6):c.103G>T (p.Ala35Ser)
|
rs1572698023
|
|
NM_000179.3(MSH6):c.1040A>T (p.Glu347Val)
|
rs2104315582
|
|
NM_000179.3(MSH6):c.1043C>A (p.Ser348Tyr)
|
rs758432113
|
|
NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)
|
rs869312797
|
|
NM_000179.3(MSH6):c.1048G>A (p.Ala350Thr)
|
|
|
NM_000179.3(MSH6):c.1048G>C (p.Ala350Pro)
|
rs1425548621
|
|
NM_000179.3(MSH6):c.1049C>G (p.Ala350Gly)
|
rs587782331
|
|
NM_000179.3(MSH6):c.104C>T (p.Ala35Val)
|
rs776547943
|
|
NM_000179.3(MSH6):c.1051C>T (p.His351Tyr)
|
rs587779911
|
|
NM_000179.3(MSH6):c.1051_1053del (p.His351del)
|
rs1669288901
|
|
NM_000179.3(MSH6):c.1052A>G (p.His351Arg)
|
rs730881786
|
|
NM_000179.3(MSH6):c.1053C>A (p.His351Gln)
|
rs28903083
|
|
NM_000179.3(MSH6):c.1054G>C (p.Val352Leu)
|
rs730881787
|
|
NM_000179.3(MSH6):c.1054G>T (p.Val352Phe)
|
rs730881787
|
|
NM_000179.3(MSH6):c.1058G>T (p.Ser353Ile)
|
rs1465861885
|
|
NM_000179.3(MSH6):c.1060G>A (p.Gly354Arg)
|
|
|
NM_000179.3(MSH6):c.1061G>A (p.Gly354Glu)
|
rs730881788
|
|
NM_000179.3(MSH6):c.1063G>C (p.Gly355Arg)
|
rs587778531
|
|
NM_000179.3(MSH6):c.1064G>A (p.Gly355Asp)
|
rs1572721518
|
|
NM_000179.3(MSH6):c.1067G>A (p.Gly356Asp)
|
rs776170146
|
|
NM_000179.3(MSH6):c.1067G>T (p.Gly356Val)
|
|
|
NM_000179.3(MSH6):c.1072G>C (p.Asp358His)
|
rs772747395
|
|
NM_000179.3(MSH6):c.1073A>G (p.Asp358Gly)
|
|
|
NM_000179.3(MSH6):c.1075A>G (p.Ser359Gly)
|
rs1553412468
|
|
NM_000179.3(MSH6):c.1076G>A (p.Ser359Asn)
|
rs1278591662
|
|
NM_000179.3(MSH6):c.1078A>C (p.Ser360Arg)
|
rs145994565
|
|
NM_000179.3(MSH6):c.1079G>A (p.Ser360Asn)
|
rs267608060
|
|
NM_000179.3(MSH6):c.1079G>T (p.Ser360Ile)
|
rs267608060
|
|
NM_000179.3(MSH6):c.1083_1088del (p.Pro362_Thr363del)
|
|
|
NM_000179.3(MSH6):c.1084C>G (p.Pro362Ala)
|
rs2104318533
|
|
NM_000179.3(MSH6):c.1084C>T (p.Pro362Ser)
|
|
|
NM_000179.3(MSH6):c.1085C>G (p.Pro362Arg)
|
rs759359754
|
|
NM_000179.3(MSH6):c.1087_1089dup (p.Thr363dup)
|
rs1060502874
|
|
NM_000179.3(MSH6):c.1088C>G (p.Thr363Ser)
|
rs1243909922
|
|
NM_000179.3(MSH6):c.1090G>A (p.Val364Ile)
|
rs1437629945
|
|
NM_000179.3(MSH6):c.1091T>A (p.Val364Asp)
|
|
|
NM_000179.3(MSH6):c.1091T>C (p.Val364Ala)
|
rs2104319027
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
NM_000179.3(MSH6):c.1093T>G (p.Trp365Gly)
|
rs752628520
|
|
NM_000179.3(MSH6):c.1094G>C (p.Trp365Ser)
|
rs587780558
|
|
NM_000179.3(MSH6):c.1097_1099delinsGGT (p.Tyr366_His367delinsTrpTyr)
|
rs2104319421
|
|
NM_000179.3(MSH6):c.1099C>G (p.His367Asp)
|
|
|
NM_000179.3(MSH6):c.109G>A (p.Ala37Thr)
|
rs775487116
|
|
NM_000179.3(MSH6):c.10C>G (p.Gln4Glu)
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1100A>T (p.His367Leu)
|
|
|
NM_000179.3(MSH6):c.1102G>A (p.Glu368Lys)
|
rs1572721686
|
|
NM_000179.3(MSH6):c.1103A>G (p.Glu368Gly)
|
rs1572721697
|
|
NM_000179.3(MSH6):c.1106C>G (p.Thr369Ser)
|
rs375974046
|
|
NM_000179.3(MSH6):c.1108T>G (p.Leu370Val)
|
|
|
NM_000179.3(MSH6):c.1111G>A (p.Glu371Lys)
|
rs1336187952
|
|
NM_000179.3(MSH6):c.1111G>C (p.Glu371Gln)
|
|
|
NM_000179.3(MSH6):c.1115G>C (p.Trp372Ser)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1117C>G (p.Leu373Val)
|
rs1060502915
|
|
NM_000179.3(MSH6):c.1118T>C (p.Leu373Pro)
|
|
|
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu)
|
rs1558660575
|
|
NM_000179.3(MSH6):c.1124A>T (p.Glu375Val)
|
|
|
NM_000179.3(MSH6):c.1125G>C (p.Glu375Asp)
|
|
|
NM_000179.3(MSH6):c.1128A>T (p.Glu376Asp)
|
rs1553412518
|
|
NM_000179.3(MSH6):c.1129A>C (p.Lys377Gln)
|
rs786202609
|
|
NM_000179.3(MSH6):c.112C>G (p.Pro38Ala)
|
rs764009461
|
|
NM_000179.3(MSH6):c.1130A>C (p.Lys377Thr)
|
rs550221570
|
|
NM_000179.3(MSH6):c.1131G>T (p.Lys377Asn)
|
rs878853699
|
|
NM_000179.3(MSH6):c.1134A>C (p.Arg378Ser)
|
rs878853700
|
|
NM_000179.3(MSH6):c.1136G>A (p.Arg379Lys)
|
rs1669298589
|
|
NM_000179.3(MSH6):c.1136G>C (p.Arg379Thr)
|
|
|
NM_000179.3(MSH6):c.1137A>C (p.Arg379Ser)
|
rs1572721819
|
|
NM_000179.3(MSH6):c.1138G>A (p.Asp380Asn)
|
rs1064793521
|
|
NM_000179.3(MSH6):c.1138G>C (p.Asp380His)
|
rs1064793521
|
|
NM_000179.3(MSH6):c.1139A>G (p.Asp380Gly)
|
rs1114167779
|
|
NM_000179.3(MSH6):c.1139A>T (p.Asp380Val)
|
rs1114167779
|
|
NM_000179.3(MSH6):c.113C>A (p.Pro38His)
|
rs1553408211
|
|
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu)
|
rs1553408211
|
|
NM_000179.3(MSH6):c.1145A>C (p.His382Pro)
|
rs1558660701
|
|
NM_000179.3(MSH6):c.1145A>G (p.His382Arg)
|
rs1558660701
|
|
NM_000179.3(MSH6):c.1146C>A (p.His382Gln)
|
rs1572721856
|
|
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del)
|
rs267608043
|
|
NM_000179.3(MSH6):c.1149G>T (p.Arg383Ser)
|
rs749800983
|
|
NM_000179.3(MSH6):c.1151G>A (p.Arg384Lys)
|
rs730881789
|
|
NM_000179.3(MSH6):c.1153A>T (p.Arg385Trp)
|
rs781652274
|
|
NM_000179.3(MSH6):c.1154G>A (p.Arg385Lys)
|
|
|
NM_000179.3(MSH6):c.1155G>T (p.Arg385Ser)
|
|
|
NM_000179.3(MSH6):c.1156C>T (p.Pro386Ser)
|
rs2104323645
|
|
NM_000179.3(MSH6):c.1157C>T (p.Pro386Leu)
|
rs2104323733
|
|
NM_000179.3(MSH6):c.1159G>A (p.Asp387Asn)
|
rs746532720
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
NM_000179.3(MSH6):c.1162C>T (p.His388Tyr)
|
rs770386388
|
|
NM_000179.3(MSH6):c.1163A>C (p.His388Pro)
|
rs786201185
|
|
NM_000179.3(MSH6):c.1165C>A (p.Pro389Thr)
|
|
|
NM_000179.3(MSH6):c.1166C>G (p.Pro389Arg)
|
rs1572721950
|
|
NM_000179.3(MSH6):c.1166C>T (p.Pro389Leu)
|
rs1572721950
|
|
NM_000179.3(MSH6):c.1174G>C (p.Asp392His)
|
|
|
NM_000179.3(MSH6):c.1175A>T (p.Asp392Val)
|
rs1064794625
|
|
NM_000179.3(MSH6):c.1177G>A (p.Ala393Thr)
|
|
|
NM_000179.3(MSH6):c.1177G>C (p.Ala393Pro)
|
rs1669304152
|
|
NM_000179.3(MSH6):c.1180T>C (p.Ser394Pro)
|
rs1553412587
|
|
NM_000179.3(MSH6):c.1180T>G (p.Ser394Ala)
|
rs1553412587
|
|
NM_000179.3(MSH6):c.1181C>A (p.Ser394Tyr)
|
rs1410933611
|
|
NM_000179.3(MSH6):c.1183A>G (p.Thr395Ala)
|
rs1553412594
|
|
NM_000179.3(MSH6):c.1184C>T (p.Thr395Ile)
|
rs767658494
|
|
NM_000179.3(MSH6):c.1186C>T (p.Leu396Phe)
|
rs2020908
|
|
NM_000179.3(MSH6):c.1189T>C (p.Tyr397His)
|
rs587779913
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
NM_000179.3(MSH6):c.118G>T (p.Ala40Ser)
|
rs754231971
|
|
NM_000179.3(MSH6):c.1190A>C (p.Tyr397Ser)
|
rs63750065
|
|
NM_000179.3(MSH6):c.1190A>T (p.Tyr397Phe)
|
rs63750065
|
|
NM_000179.3(MSH6):c.1192G>C (p.Val398Leu)
|
rs780350978
|
|
NM_000179.3(MSH6):c.1196C>A (p.Pro399His)
|
|
|
NM_000179.3(MSH6):c.1196C>T (p.Pro399Leu)
|
rs878853701
|
|
NM_000179.3(MSH6):c.1199A>T (p.Glu400Val)
|
rs932458640
|
|
NM_000179.3(MSH6):c.1201G>A (p.Asp401Asn)
|
rs1669308138
|
|
NM_000179.3(MSH6):c.1201G>C (p.Asp401His)
|
rs1669308138
|
|
NM_000179.3(MSH6):c.1207C>T (p.Leu403Phe)
|
rs876659223
|
|
NM_000179.3(MSH6):c.1208T>A (p.Leu403His)
|
|
|
NM_000179.3(MSH6):c.1210A>C (p.Asn404His)
|
|
|
NM_000179.3(MSH6):c.1211A>T (p.Asn404Ile)
|
rs768740986
|
|
NM_000179.3(MSH6):c.1213T>A (p.Ser405Thr)
|
|
|
NM_000179.3(MSH6):c.1216T>C (p.Cys406Arg)
|
rs1064794198
|
|
NM_000179.3(MSH6):c.1217G>A (p.Cys406Tyr)
|
rs1114167789
|
|
NM_000179.3(MSH6):c.1217G>T (p.Cys406Phe)
|
rs1114167789
|
|
NM_000179.3(MSH6):c.1220C>A (p.Thr407Asn)
|
rs1114167754
|
|
NM_000179.3(MSH6):c.1220C>G (p.Thr407Ser)
|
rs1114167754
|
|
NM_000179.3(MSH6):c.1220C>T (p.Thr407Ile)
|
rs1114167754
|
|
NM_000179.3(MSH6):c.1222C>G (p.Pro408Ala)
|
|
|
NM_000179.3(MSH6):c.1222C>T (p.Pro408Ser)
|
rs1553412644
|
|
NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg)
|
rs767404845
|
|
NM_000179.3(MSH6):c.1225G>A (p.Gly409Arg)
|
rs1669310132
|
|
NM_000179.3(MSH6):c.1228A>G (p.Met410Val)
|
|
|
NM_000179.3(MSH6):c.122C>A (p.Ser41Tyr)
|
rs876658985
|
|
NM_000179.3(MSH6):c.122C>G (p.Ser41Cys)
|
rs876658985
|
|
NM_000179.3(MSH6):c.1232G>A (p.Arg411Lys)
|
rs2104329857
|
|
NM_000179.3(MSH6):c.1233G>C (p.Arg411Ser)
|
rs554843104
|
|
NM_000179.3(MSH6):c.1234A>G (p.Lys412Glu)
|
rs1669310607
|
|
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)
|
rs2104330278
|
|
NM_000179.3(MSH6):c.1238G>C (p.Trp413Ser)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1238G>T (p.Trp413Leu)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1239G>C (p.Trp413Cys)
|
rs1114167736
|
|
NM_000179.3(MSH6):c.1241G>T (p.Trp414Leu)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1242G>T (p.Trp414Cys)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1245G>T (p.Gln415His)
|
rs769418914
|
|
NM_000179.3(MSH6):c.1246A>G (p.Ile416Val)
|
rs1669311750
|
|
NM_000179.3(MSH6):c.1248T>G (p.Ile416Met)
|
rs1572722305
|
|
NM_000179.3(MSH6):c.124C>G (p.Pro42Ala)
|
rs34014629
|
|
NM_000179.3(MSH6):c.1250A>C (p.Lys417Thr)
|
rs1553412687
|
|
NM_000179.3(MSH6):c.1251G>C (p.Lys417Asn)
|
rs1669312251
|
|
NM_000179.3(MSH6):c.1251G>T (p.Lys417Asn)
|
|
|
NM_000179.3(MSH6):c.1253C>G (p.Ser418Cys)
|
rs2104331392
|
|
NM_000179.3(MSH6):c.1257G>T (p.Gln419His)
|
rs63750026
|
|
NM_000179.3(MSH6):c.125C>G (p.Pro42Arg)
|
rs1553408229
|
|
NM_000179.3(MSH6):c.125C>T (p.Pro42Leu)
|
rs1553408229
|
|
NM_000179.3(MSH6):c.1260C>G (p.Asn420Lys)
|
rs1114167752
|
|
NM_000179.3(MSH6):c.1264G>A (p.Asp422Asn)
|
rs1423874192
|
|
NM_000179.3(MSH6):c.1264G>C (p.Asp422His)
|
rs1423874192
|
|
NM_000179.3(MSH6):c.1264G>T (p.Asp422Tyr)
|
rs1423874192
|
|
NM_000179.3(MSH6):c.1264_1296dup (p.Asp422_Phe432dup)
|
rs2104331907
|
|
NM_000179.3(MSH6):c.1267C>G (p.Leu423Val)
|
rs587781657
|
|
NM_000179.3(MSH6):c.1267C>T (p.Leu423Phe)
|
|
|
NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)
|
rs768299607
|
|
NM_000179.3(MSH6):c.1271T>C (p.Val424Ala)
|
rs1669314089
|
|
NM_000179.3(MSH6):c.1274T>C (p.Ile425Thr)
|
rs2104332672
|
|
NM_000179.3(MSH6):c.1279T>C (p.Tyr427His)
|
rs1669315029
|
|
NM_000179.3(MSH6):c.127T>C (p.Ser43Pro)
|
rs770678180
|
|
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)
|
rs761822293
|
|
NM_000179.3(MSH6):c.1283A>C (p.Lys428Thr)
|
|
|
NM_000179.3(MSH6):c.1285G>A (p.Val429Met)
|
rs1669315670
|
|
NM_000179.3(MSH6):c.1286T>C (p.Val429Ala)
|
rs2104333565
|
|
NM_000179.3(MSH6):c.1286T>G (p.Val429Gly)
|
rs2104333565
|
|
NM_000179.3(MSH6):c.1289G>A (p.Gly430Glu)
|
rs1114167737
|
|
NM_000179.3(MSH6):c.128C>G (p.Ser43Cys)
|
rs781203386
|
|
NM_000179.3(MSH6):c.128C>T (p.Ser43Phe)
|
rs781203386
|
|
NM_000179.3(MSH6):c.1290G>A (p.Gly430=)
|
rs1558661242
|
|
NM_000179.3(MSH6):c.1291A>G (p.Lys431Glu)
|
rs2104333951
|
|
NM_000179.3(MSH6):c.1293A>C (p.Lys431Asn)
|
|
|
NM_000179.3(MSH6):c.1294T>G (p.Phe432Val)
|
rs2104334088
|
|
NM_000179.3(MSH6):c.1295T>A (p.Phe432Tyr)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1298A>T (p.Tyr433Phe)
|
rs1669317232
|
|
NM_000179.3(MSH6):c.12G>C (p.Gln4His)
|
|
|
NM_000179.3(MSH6):c.1303C>G (p.Leu435Val)
|
rs876660441
|
|
NM_000179.3(MSH6):c.1306T>C (p.Tyr436His)
|
rs1669318008
|
|
NM_000179.3(MSH6):c.1307A>G (p.Tyr436Cys)
|
rs1558661296
|
|
NM_000179.3(MSH6):c.1309C>T (p.His437Tyr)
|
rs1669318528
|
|
NM_000179.3(MSH6):c.130C>A (p.Pro44Thr)
|
rs1558645097
|
|
NM_000179.3(MSH6):c.130C>G (p.Pro44Ala)
|
|
|
NM_000179.3(MSH6):c.130C>T (p.Pro44Ser)
|
rs1558645097
|
|
NM_000179.3(MSH6):c.1310A>G (p.His437Arg)
|
rs2104335299
|
|
NM_000179.3(MSH6):c.1312A>G (p.Met438Val)
|
rs1553412742
|
|
NM_000179.3(MSH6):c.1313T>C (p.Met438Thr)
|
rs1558661333
|
|
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val)
|
rs1553412749
|
|
NM_000179.3(MSH6):c.1321C>T (p.Leu441Phe)
|
rs1553412749
|
|
NM_000179.3(MSH6):c.1324A>T (p.Ile442Phe)
|
rs1669320105
|
|
NM_000179.3(MSH6):c.1325T>A (p.Ile442Asn)
|
rs587779210
|
|
NM_000179.3(MSH6):c.1328G>A (p.Gly443Glu)
|
|
|
NM_000179.3(MSH6):c.1334G>C (p.Ser445Thr)
|
|
|
NM_000179.3(MSH6):c.1335T>G (p.Ser445Arg)
|
rs1572722604
|
|
NM_000179.3(MSH6):c.1336G>A (p.Glu446Lys)
|
rs1669321230
|
|
NM_000179.3(MSH6):c.1336G>C (p.Glu446Gln)
|
|
|
NM_000179.3(MSH6):c.1337A>T (p.Glu446Val)
|
rs2104337296
|
|
NM_000179.3(MSH6):c.1338A>C (p.Glu446Asp)
|
|
|
NM_000179.3(MSH6):c.1338A>T (p.Glu446Asp)
|
rs587779211
|
|
NM_000179.3(MSH6):c.1339C>G (p.Leu447Val)
|
rs369709529
|
|
NM_000179.3(MSH6):c.133G>A (p.Gly45Ser)
|
rs978968846
|
|
NM_000179.3(MSH6):c.1340T>C (p.Leu447Pro)
|
|
|
NM_000179.3(MSH6):c.1343G>A (p.Gly448Glu)
|
rs1553412772
|
|
NM_000179.3(MSH6):c.1345C>A (p.Leu449Met)
|
rs3136333
|
|
NM_000179.3(MSH6):c.1346T>A (p.Leu449Gln)
|
|
|
NM_000179.3(MSH6):c.1348G>A (p.Val450Ile)
|
|
|
NM_000179.3(MSH6):c.1348G>T (p.Val450Leu)
|
rs878993430
|
|
NM_000179.3(MSH6):c.1349T>C (p.Val450Ala)
|
rs1064794705
|
|
NM_000179.3(MSH6):c.1351T>C (p.Phe451Leu)
|
rs1558661442
|
|
NM_000179.3(MSH6):c.1352T>G (p.Phe451Cys)
|
|
|
NM_000179.3(MSH6):c.1353C>G (p.Phe451Leu)
|
|
|
NM_000179.3(MSH6):c.1354A>C (p.Met452Leu)
|
rs780734507
|
|
NM_000179.3(MSH6):c.1354A>G (p.Met452Val)
|
rs780734507
|
|
NM_000179.3(MSH6):c.1354A>T (p.Met452Leu)
|
rs780734507
|
|
NM_000179.3(MSH6):c.1355T>C (p.Met452Thr)
|
rs1064793364
|
|
NM_000179.3(MSH6):c.1357A>C (p.Lys453Gln)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1363A>T (p.Asn455Tyr)
|
rs2104339167
|
|
NM_000179.3(MSH6):c.1364A>G (p.Asn455Ser)
|
rs200938360
|
|
NM_000179.3(MSH6):c.1365C>G (p.Asn455Lys)
|
rs1064793186
|
|
NM_000179.3(MSH6):c.1369G>C (p.Ala457Pro)
|
rs267608052
|
|
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)
|
rs863224616
|
|
NM_000179.3(MSH6):c.1370C>T (p.Ala457Val)
|
|
|
NM_000179.3(MSH6):c.1372C>G (p.His458Asp)
|
|
|
NM_000179.3(MSH6):c.1375T>A (p.Ser459Thr)
|
rs2104339863
|
|
NM_000179.3(MSH6):c.1376C>A (p.Ser459Tyr)
|
|
|
NM_000179.3(MSH6):c.1376C>T (p.Ser459Phe)
|
|
|
NM_000179.3(MSH6):c.1379G>A (p.Gly460Asp)
|
rs1572722767
|
|
NM_000179.3(MSH6):c.1382T>A (p.Phe461Tyr)
|
|
|
NM_000179.3(MSH6):c.1382T>C (p.Phe461Ser)
|
rs1064793187
|
|
NM_000179.3(MSH6):c.1382T>G (p.Phe461Cys)
|
rs1064793187
|
|
NM_000179.3(MSH6):c.1384C>G (p.Pro462Ala)
|
rs876658726
|
|
NM_000179.3(MSH6):c.1385C>T (p.Pro462Leu)
|
rs1558661506
|
|
NM_000179.3(MSH6):c.1387G>A (p.Glu463Lys)
|
|
|
NM_000179.3(MSH6):c.1390A>T (p.Ile464Phe)
|
rs201892477
|
|
NM_000179.3(MSH6):c.1391T>C (p.Ile464Thr)
|
rs1572722813
|
|
NM_000179.3(MSH6):c.1392T>G (p.Ile464Met)
|
rs2104341006
|
|
NM_000179.3(MSH6):c.1393G>C (p.Ala465Pro)
|
rs1553412810
|
|
NM_000179.3(MSH6):c.1394C>T (p.Ala465Val)
|
rs1553412811
|
|
NM_000179.3(MSH6):c.139G>A (p.Asp47Asn)
|
rs2103938286
|
|
NM_000179.3(MSH6):c.13A>G (p.Ser5Gly)
|
|
|
NM_000179.3(MSH6):c.1401C>T (p.Gly467=)
|
rs1558661556
|
|
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)
|
rs748165218
|
|
NM_000179.3(MSH6):c.1409C>T (p.Ser470Leu)
|
|
|
NM_000179.3(MSH6):c.1411G>T (p.Asp471Tyr)
|
|
|
NM_000179.3(MSH6):c.1415C>A (p.Ser472Tyr)
|
|
|
NM_000179.3(MSH6):c.1415C>G (p.Ser472Cys)
|
rs864622741
|
|
NM_000179.3(MSH6):c.1417C>G (p.Leu473Val)
|
rs1060502924
|
|
NM_000179.3(MSH6):c.1418T>C (p.Leu473Pro)
|
rs1553412831
|
|
NM_000179.3(MSH6):c.141T>A (p.Asp47Glu)
|
|
|
NM_000179.3(MSH6):c.141T>G (p.Asp47Glu)
|
rs1668124415
|
|
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu)
|
rs1558661621
|
|
NM_000179.3(MSH6):c.1420G>T (p.Val474Leu)
|
rs1558661621
|
|
NM_000179.3(MSH6):c.1421T>C (p.Val474Ala)
|
rs1669329899
|
|
NM_000179.3(MSH6):c.1421T>G (p.Val474Gly)
|
rs1669329899
|
|
NM_000179.3(MSH6):c.1426A>C (p.Lys476Gln)
|
rs1229494027
|
|
NM_000179.3(MSH6):c.1426A>G (p.Lys476Glu)
|
rs1229494027
|
|
NM_000179.3(MSH6):c.1427A>G (p.Lys476Arg)
|
rs1553412841
|
|
NM_000179.3(MSH6):c.1429G>A (p.Gly477Ser)
|
rs1251859821
|
|
NM_000179.3(MSH6):c.142G>A (p.Ala48Thr)
|
rs1572698169
|
|
NM_000179.3(MSH6):c.1430G>C (p.Gly477Ala)
|
rs1669330815
|
|
NM_000179.3(MSH6):c.1430G>T (p.Gly477Val)
|
rs1669330815
|
|
NM_000179.3(MSH6):c.1431C>G (p.Gly477=)
|
rs2104343567
|
|
NM_000179.3(MSH6):c.1435A>C (p.Lys479Gln)
|
rs2104343819
|
|
NM_000179.3(MSH6):c.1435A>G (p.Lys479Glu)
|
|
|
NM_000179.3(MSH6):c.1436A>T (p.Lys479Ile)
|
|
|
NM_000179.3(MSH6):c.1439_1441dup (p.Val480dup)
|
rs1669331455
|
|
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)
|
rs63750909
|
|
NM_000179.3(MSH6):c.1445G>T (p.Arg482Leu)
|
|
|
NM_000179.3(MSH6):c.1447G>A (p.Val483Met)
|
rs786204084
|
|
NM_000179.3(MSH6):c.1447G>C (p.Val483Leu)
|
rs786204084
|
|
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1453C>G (p.Gln485Glu)
|
rs1114167803
|
|
NM_000179.3(MSH6):c.1454A>C (p.Gln485Pro)
|
rs1553412866
|
|
NM_000179.3(MSH6):c.1455G>T (p.Gln485His)
|
rs1669333625
|
|
NM_000179.3(MSH6):c.1457C>G (p.Thr486Ser)
|
rs577713548
|
|
NM_000179.3(MSH6):c.1459G>A (p.Glu487Lys)
|
rs1469561474
|
|
NM_000179.3(MSH6):c.145G>C (p.Ala49Pro)
|
rs745642001
|
|
NM_000179.3(MSH6):c.145_146delinsAA (p.Ala49Asn)
|
|
|
NM_000179.3(MSH6):c.1460A>T (p.Glu487Val)
|
rs1558661766
|
|
NM_000179.3(MSH6):c.1461G>C (p.Glu487Asp)
|
rs1174736855
|
|
NM_000179.3(MSH6):c.1463C>A (p.Thr488Asn)
|
rs1453645523
|
|
NM_000179.3(MSH6):c.1463C>T (p.Thr488Ile)
|
rs1453645523
|
|
NM_000179.3(MSH6):c.1465C>G (p.Pro489Ala)
|
rs1553412879
|
|
NM_000179.3(MSH6):c.1466C>T (p.Pro489Leu)
|
rs1669334912
|
|
NM_000179.3(MSH6):c.1471A>G (p.Met491Val)
|
rs1669335240
|
|
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)
|
rs587782576
|
|
NM_000179.3(MSH6):c.1473G>C (p.Met491Ile)
|
rs1572723119
|
|
NM_000179.3(MSH6):c.1473G>T (p.Met491Ile)
|
|
|
NM_000179.3(MSH6):c.1474A>T (p.Met492Leu)
|
rs61754783
|
|
NM_000179.3(MSH6):c.1475T>C (p.Met492Thr)
|
rs1558661808
|
|
NM_000179.3(MSH6):c.1476G>T (p.Met492Ile)
|
rs1572723130
|
|
NM_000179.3(MSH6):c.1478A>C (p.Glu493Ala)
|
rs1669336176
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
NM_000179.3(MSH6):c.1481C>G (p.Ala494Gly)
|
|
|
NM_000179.3(MSH6):c.1484G>A (p.Arg495Gln)
|
rs1358771617
|
|
NM_000179.3(MSH6):c.1486T>C (p.Cys496Arg)
|
rs1558661860
|
|
NM_000179.3(MSH6):c.1486T>G (p.Cys496Gly)
|
|
|
NM_000179.3(MSH6):c.1489A>G (p.Arg497Gly)
|
|
|
NM_000179.3(MSH6):c.1492A>G (p.Lys498Glu)
|
rs1669338018
|
|
NM_000179.3(MSH6):c.1494G>C (p.Lys498Asn)
|
rs1572723194
|
|
NM_000179.3(MSH6):c.1495A>C (p.Met499Leu)
|
rs1114167745
|
|
NM_000179.3(MSH6):c.1495A>G (p.Met499Val)
|
rs1114167745
|
|
NM_000179.3(MSH6):c.1495A>T (p.Met499Leu)
|
rs1114167745
|
|
NM_000179.3(MSH6):c.1496T>C (p.Met499Thr)
|
rs1572723206
|
|
NM_000179.3(MSH6):c.1497G>T (p.Met499Ile)
|
|
|
NM_000179.3(MSH6):c.1499C>A (p.Ala500Glu)
|
rs1114167795
|
|
NM_000179.3(MSH6):c.1499C>T (p.Ala500Val)
|
rs1114167795
|
|
NM_000179.3(MSH6):c.149G>C (p.Trp50Ser)
|
rs2103938825
|
|
NM_000179.3(MSH6):c.14G>A (p.Ser5Asn)
|
rs532585602
|
|
NM_000179.3(MSH6):c.1501C>G (p.His501Asp)
|
rs779411998
|
|
NM_000179.3(MSH6):c.1502A>G (p.His501Arg)
|
rs1572723229
|
|
NM_000179.3(MSH6):c.1503T>G (p.His501Gln)
|
rs1572723237
|
|
NM_000179.3(MSH6):c.1504A>G (p.Ile502Val)
|
|
|
NM_000179.3(MSH6):c.1507T>C (p.Ser503Pro)
|
rs1669339708
|
|
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe)
|
rs63750897
|
|
NM_000179.3(MSH6):c.150G>C (p.Trp50Cys)
|
rs876659674
|
|
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys)
|
rs876659674
|
|
NM_000179.3(MSH6):c.1510A>C (p.Lys504Gln)
|
rs1553412902
|
|
NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)
|
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
NM_000179.3(MSH6):c.1514A>G (p.Tyr505Cys)
|
rs1669340655
|
|
NM_000179.3(MSH6):c.1518T>G (p.Asp506Glu)
|
rs775497704
|
|
NM_000179.3(MSH6):c.1519A>G (p.Arg507Gly)
|
rs1553412915
|
|
NM_000179.3(MSH6):c.151A>C (p.Ser51Arg)
|
|
|
NM_000179.3(MSH6):c.151A>G (p.Ser51Gly)
|
rs1553408276
|
|
NM_000179.3(MSH6):c.1521A>C (p.Arg507Ser)
|
rs1669341326
|
|
NM_000179.3(MSH6):c.1522G>A (p.Val508Met)
|
rs747971039
|
|
NM_000179.3(MSH6):c.1525G>A (p.Val509Met)
|
|
|
NM_000179.3(MSH6):c.1526T>G (p.Val509Gly)
|
rs63751005
|
|
NM_000179.3(MSH6):c.1528A>G (p.Arg510Gly)
|
rs786203486
|
|
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)
|
rs993163672
|
|
NM_000179.3(MSH6):c.1529G>C (p.Arg510Thr)
|
rs864622572
|
|
NM_000179.3(MSH6):c.152G>T (p.Ser51Ile)
|
rs1284504549
|
|
NM_000179.3(MSH6):c.1534G>A (p.Glu512Lys)
|
rs1572723342
|
|
NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)
|
rs1060502908
|
|
NM_000179.3(MSH6):c.1539C>G (p.Ile513Met)
|
|
|
NM_000179.3(MSH6):c.1540_1548del (p.Cys514_Ile516del)
|
rs2104350214
|
|
NM_000179.3(MSH6):c.1541G>A (p.Cys514Tyr)
|
|
|
NM_000179.3(MSH6):c.1543A>G (p.Arg515Gly)
|
|
|
NM_000179.3(MSH6):c.1544G>A (p.Arg515Lys)
|
rs1669343421
|
|
NM_000179.3(MSH6):c.1546A>G (p.Ile516Val)
|
rs1669343512
|
|
NM_000179.3(MSH6):c.1549A>G (p.Ile517Val)
|
rs2104350987
|
|
NM_000179.3(MSH6):c.154G>A (p.Glu52Lys)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.154G>C (p.Glu52Gln)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1550T>C (p.Ile517Thr)
|
rs1669343851
|
|
NM_000179.3(MSH6):c.1553C>A (p.Thr518Asn)
|
rs1553412945
|
|
NM_000179.3(MSH6):c.1556A>C (p.Lys519Thr)
|
rs1285168531
|
|
NM_000179.3(MSH6):c.1557G>C (p.Lys519Asn)
|
rs876660445
|
|
NM_000179.3(MSH6):c.1558G>A (p.Gly520Ser)
|
rs1558662076
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
NM_000179.3(MSH6):c.1559G>C (p.Gly520Ala)
|
rs1669344619
|
|
NM_000179.3(MSH6):c.155A>T (p.Glu52Val)
|
rs878853707
|
|
NM_000179.3(MSH6):c.1561A>C (p.Thr521Pro)
|
rs587779916
|
|
NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser)
|
rs587779916
|
|
NM_000179.3(MSH6):c.1562C>T (p.Thr521Ile)
|
rs149159527
|
|
NM_000179.3(MSH6):c.1564C>A (p.Gln522Lys)
|
rs878853708
|
|
NM_000179.3(MSH6):c.1564C>G (p.Gln522Glu)
|
rs878853708
|
|
NM_000179.3(MSH6):c.1567A>G (p.Thr523Ala)
|
|
|
NM_000179.3(MSH6):c.1568C>T (p.Thr523Ile)
|
rs1553412959
|
|
NM_000179.3(MSH6):c.156G>C (p.Glu52Asp)
|
|
|
NM_000179.3(MSH6):c.1570T>A (p.Tyr524Asn)
|
|
|
NM_000179.3(MSH6):c.1571A>C (p.Tyr524Ser)
|
rs1669346323
|
|
NM_000179.3(MSH6):c.1573A>G (p.Ser525Gly)
|
rs1572723488
|
|
NM_000179.3(MSH6):c.1576G>A (p.Val526Met)
|
rs1060502899
|
|
NM_000179.3(MSH6):c.157G>C (p.Ala53Pro)
|
rs2103939250
|
|
NM_000179.3(MSH6):c.1580T>G (p.Leu527Arg)
|
rs1669347620
|
|
NM_000179.3(MSH6):c.1585G>T (p.Gly529Cys)
|
|
|
NM_000179.3(MSH6):c.1586G>A (p.Gly529Asp)
|
rs786201964
|
|
NM_000179.3(MSH6):c.1586G>C (p.Gly529Ala)
|
rs786201964
|
|
NM_000179.3(MSH6):c.158C>A (p.Ala53Asp)
|
rs1553408288
|
|
NM_000179.3(MSH6):c.1591C>A (p.Pro531Thr)
|
rs201721694
|
|
NM_000179.3(MSH6):c.1591C>G (p.Pro531Ala)
|
rs201721694
|
|
NM_000179.3(MSH6):c.1591C>T (p.Pro531Ser)
|
|
|
NM_000179.3(MSH6):c.1594T>C (p.Ser532Pro)
|
rs1558662224
|
|
NM_000179.3(MSH6):c.1595C>G (p.Ser532Cys)
|
rs1572723570
|
|
NM_000179.3(MSH6):c.1597G>A (p.Glu533Lys)
|
rs1553412979
|
|
NM_000179.3(MSH6):c.1598A>T (p.Glu533Val)
|
rs1553412981
|
|
NM_000179.3(MSH6):c.159TGGGCC[3] (p.54GP[3])
|
rs767894453
|
|
NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp)
|
rs1669350157
|
|
NM_000179.3(MSH6):c.1600A>T (p.Asn534Tyr)
|
|
|
NM_000179.3(MSH6):c.1601A>T (p.Asn534Ile)
|
rs1572723598
|
|
NM_000179.3(MSH6):c.1602C>A (p.Asn534Lys)
|
rs763712971
|
|
NM_000179.3(MSH6):c.1602C>G (p.Asn534Lys)
|
rs763712971
|
|
NM_000179.3(MSH6):c.1603T>A (p.Tyr535Asn)
|
rs2104354716
|
|
NM_000179.3(MSH6):c.1603T>G (p.Tyr535Asp)
|
rs2104354716
|
|
NM_000179.3(MSH6):c.1604A>G (p.Tyr535Cys)
|
rs376476188
|
|
NM_000179.3(MSH6):c.1606A>G (p.Ser536Gly)
|
rs765983691
|
|
NM_000179.3(MSH6):c.1607G>T (p.Ser536Ile)
|
|
|
NM_000179.3(MSH6):c.1609A>C (p.Lys537Gln)
|
rs753276270
|
|
NM_000179.3(MSH6):c.1612T>C (p.Tyr538His)
|
rs1365012099
|
|
NM_000179.3(MSH6):c.1613A>C (p.Tyr538Ser)
|
rs728619
|
|
NM_000179.3(MSH6):c.1615C>A (p.Leu539Ile)
|
|
|
NM_000179.3(MSH6):c.1615C>T (p.Leu539Phe)
|
rs1553412999
|
|
NM_000179.3(MSH6):c.1616T>A (p.Leu539His)
|
rs1422865375
|
|
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile)
|
rs201996928
|
|
NM_000179.3(MSH6):c.1618C>G (p.Leu540Val)
|
rs201996928
|
|
NM_000179.3(MSH6):c.1618C>T (p.Leu540Phe)
|
rs201996928
|
|
NM_000179.3(MSH6):c.161G>A (p.Gly54Glu)
|
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
NM_000179.3(MSH6):c.1628A>C (p.Lys543Thr)
|
rs1553413015
|
|
NM_000179.3(MSH6):c.1628A>G (p.Lys543Arg)
|
rs1553413015
|
|
NM_000179.3(MSH6):c.1632A>C (p.Glu544Asp)
|
rs1296237769
|
|
NM_000179.3(MSH6):c.1634A>G (p.Lys545Arg)
|
rs1558662390
|
|
NM_000179.3(MSH6):c.1636G>C (p.Glu546Gln)
|
rs63751172
|
|
NM_000179.3(MSH6):c.1638G>T (p.Glu546Asp)
|
rs1669356333
|
|
NM_000179.3(MSH6):c.163C>T (p.Pro55Ser)
|
rs2103939567
|
|
NM_000179.3(MSH6):c.1640A>G (p.Glu547Gly)
|
rs1553413026
|
|
NM_000179.3(MSH6):c.1642G>C (p.Asp548His)
|
rs2104357887
|
|
NM_000179.3(MSH6):c.1645T>C (p.Ser549Pro)
|
|
|
NM_000179.3(MSH6):c.1646C>T (p.Ser549Phe)
|
rs200447622
|
|
NM_000179.3(MSH6):c.1649C>T (p.Ser550Phe)
|
rs878853710
|
|
NM_000179.3(MSH6):c.1649_1651del (p.Ser550_Gly551delinsCys)
|
rs1558662438
|
|
NM_000179.3(MSH6):c.164C>A (p.Pro55His)
|
rs1342218617
|
|
NM_000179.3(MSH6):c.164C>G (p.Pro55Arg)
|
rs1342218617
|
|
NM_000179.3(MSH6):c.164C>T (p.Pro55Leu)
|
rs1342218617
|
|
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser)
|
rs1558662449
|
|
NM_000179.3(MSH6):c.1655A>T (p.His552Leu)
|
rs1064793423
|
|
NM_000179.3(MSH6):c.1657A>C (p.Thr553Pro)
|
rs1294509946
|
|
NM_000179.3(MSH6):c.1657A>T (p.Thr553Ser)
|
rs1294509946
|
|
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser)
|
rs1553413038
|
|
NM_000179.3(MSH6):c.1658C>T (p.Thr553Ile)
|
rs1553413038
|
|
NM_000179.3(MSH6):c.1666T>C (p.Tyr556His)
|
rs1060502895
|
|
NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)
|
rs63751312
|
|
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser)
|
rs1553413048
|
|
NM_000179.3(MSH6):c.166G>T (p.Gly56Trp)
|
rs1254951576
|
|
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)
|
rs1553413050
|
|
NM_000179.3(MSH6):c.1675T>A (p.Cys559Ser)
|
|
|
NM_000179.3(MSH6):c.1675T>C (p.Cys559Arg)
|
rs1558662565
|
|
NM_000179.3(MSH6):c.1677C>G (p.Cys559Trp)
|
rs63749893
|
|
NM_000179.3(MSH6):c.1678T>G (p.Phe560Val)
|
rs863224617
|
|
NM_000179.3(MSH6):c.1679T>A (p.Phe560Tyr)
|
|
|
NM_000179.3(MSH6):c.167G>A (p.Gly56Glu)
|
rs1572698275
|
|
NM_000179.3(MSH6):c.167G>T (p.Gly56Val)
|
rs1572698275
|
|
NM_000179.3(MSH6):c.1681G>A (p.Val561Ile)
|
|
|
NM_000179.3(MSH6):c.1681G>C (p.Val561Leu)
|
rs1553413057
|
|
NM_000179.3(MSH6):c.1685A>G (p.Asp562Gly)
|
|
|
NM_000179.3(MSH6):c.1688C>A (p.Thr563Asn)
|
rs1386014501
|
|
NM_000179.3(MSH6):c.1690T>A (p.Ser564Thr)
|
rs876661163
|
|
NM_000179.3(MSH6):c.1690T>G (p.Ser564Ala)
|
|
|
NM_000179.3(MSH6):c.1693C>A (p.Leu565Met)
|
|
|
NM_000179.3(MSH6):c.1697G>A (p.Gly566Glu)
|
rs758990693
|
|
NM_000179.3(MSH6):c.1699A>G (p.Lys567Glu)
|
rs1669363053
|
|
NM_000179.3(MSH6):c.169C>A (p.Pro57Thr)
|
|
|
NM_000179.3(MSH6):c.169C>T (p.Pro57Ser)
|
rs773367009
|
|
NM_000179.3(MSH6):c.1700A>G (p.Lys567Arg)
|
rs1558662651
|
|
NM_000179.3(MSH6):c.1702T>C (p.Phe568Leu)
|
|
|
NM_000179.3(MSH6):c.1702T>G (p.Phe568Val)
|
rs758118126
|
|
NM_000179.3(MSH6):c.1705T>C (p.Phe569Leu)
|
rs1553413084
|
|
NM_000179.3(MSH6):c.1705T>G (p.Phe569Val)
|
rs1553413084
|
|
NM_000179.3(MSH6):c.1706T>C (p.Phe569Ser)
|
rs1558662672
|
|
NM_000179.3(MSH6):c.1709T>C (p.Ile570Thr)
|
rs2104362433
|
|
NM_000179.3(MSH6):c.170C>T (p.Pro57Leu)
|
rs1064793657
|
|
NM_000179.3(MSH6):c.1710A>G (p.Ile570Met)
|
rs1572724112
|
|
NM_000179.3(MSH6):c.1711G>C (p.Gly571Arg)
|
|
|
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp)
|
rs863224618
|
|
NM_000179.3(MSH6):c.1714C>G (p.Gln572Glu)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.1719T>A (p.Phe573Leu)
|
rs2104363146
|
|
NM_000179.3(MSH6):c.1721C>T (p.Ser574Leu)
|
|
|
NM_000179.3(MSH6):c.1721_1722delinsTC (p.Ser574Phe)
|
|
|
NM_000179.3(MSH6):c.1723G>C (p.Asp575His)
|
rs863224619
|
|
NM_000179.3(MSH6):c.1723G>T (p.Asp575Tyr)
|
rs863224619
|
|
NM_000179.3(MSH6):c.1724A>G (p.Asp575Gly)
|
rs1669366197
|
|
NM_000179.3(MSH6):c.1724A>T (p.Asp575Val)
|
|
|
NM_000179.3(MSH6):c.1726G>T (p.Asp576Tyr)
|
rs1669366443
|
|
NM_000179.3(MSH6):c.1726_1734del (p.Asp576_His578del)
|
|
|
NM_000179.3(MSH6):c.1727A>G (p.Asp576Gly)
|
|
|
NM_000179.3(MSH6):c.1729C>A (p.Arg577Ser)
|
rs542838372
|
|
NM_000179.3(MSH6):c.172A>G (p.Arg58Gly)
|
rs1553408313
|
|
NM_000179.3(MSH6):c.172_177dup (p.Arg58_Pro59dup)
|
rs876661161
|
|
NM_000179.3(MSH6):c.1730G>T (p.Arg577Leu)
|
|
|
NM_000179.3(MSH6):c.1732C>A (p.His578Asn)
|
|
|
NM_000179.3(MSH6):c.1732C>G (p.His578Asp)
|
rs768854566
|
|
NM_000179.3(MSH6):c.1733A>G (p.His578Arg)
|
rs1553413111
|
|
NM_000179.3(MSH6):c.1733A>T (p.His578Leu)
|
rs1553413111
|
|
NM_000179.3(MSH6):c.1735T>G (p.Cys579Gly)
|
rs1185721664
|
|
NM_000179.3(MSH6):c.1736G>T (p.Cys579Phe)
|
|
|
NM_000179.3(MSH6):c.173G>A (p.Arg58Lys)
|
rs1064795187
|
|
NM_000179.3(MSH6):c.1743A>G (p.Arg581=)
|
rs1669368141
|
|
NM_000179.3(MSH6):c.1744T>C (p.Phe582Leu)
|
|
|
NM_000179.3(MSH6):c.1747A>G (p.Arg583Gly)
|
rs1558662808
|
|
NM_000179.3(MSH6):c.1750A>C (p.Thr584Pro)
|
rs1553413123
|
|
NM_000179.3(MSH6):c.1751C>G (p.Thr584Ser)
|
rs1572724260
|
|
NM_000179.3(MSH6):c.1751C>T (p.Thr584Ile)
|
rs1572724260
|
|
NM_000179.3(MSH6):c.1753C>G (p.Leu585Val)
|
rs1558662820
|
|
NM_000179.3(MSH6):c.1754T>A (p.Leu585Gln)
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1756G>C (p.Val586Leu)
|
rs1044963129
|
|
NM_000179.3(MSH6):c.1757T>G (p.Val586Gly)
|
|
|
NM_000179.3(MSH6):c.1759G>A (p.Ala587Thr)
|
rs868575342
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
NM_000179.3(MSH6):c.175C>G (p.Pro59Ala)
|
|
|
NM_000179.3(MSH6):c.1760C>T (p.Ala587Val)
|
rs1060502907
|
|
NM_000179.3(MSH6):c.1762C>T (p.His588Tyr)
|
rs1669370186
|
|
NM_000179.3(MSH6):c.1763A>G (p.His588Arg)
|
rs786202725
|
|
NM_000179.3(MSH6):c.1765T>A (p.Tyr589Asn)
|
|
|
NM_000179.3(MSH6):c.1765T>C (p.Tyr589His)
|
|
|
NM_000179.3(MSH6):c.1768C>A (p.Pro590Thr)
|
rs1553413153
|
|
NM_000179.3(MSH6):c.1768C>G (p.Pro590Ala)
|
|
|
NM_000179.3(MSH6):c.1768C>T (p.Pro590Ser)
|
rs1553413153
|
|
NM_000179.3(MSH6):c.1769C>T (p.Pro590Leu)
|
rs587782635
|
|
NM_000179.3(MSH6):c.176C>A (p.Pro59His)
|
|
|
NM_000179.3(MSH6):c.176C>G (p.Pro59Arg)
|
rs1668129135
|
|
NM_000179.3(MSH6):c.176C>T (p.Pro59Leu)
|
|
|
NM_000179.3(MSH6):c.1771C>G (p.Pro591Ala)
|
rs267608045
|
|
NM_000179.3(MSH6):c.1772C>A (p.Pro591Gln)
|
rs1558662903
|
|
NM_000179.3(MSH6):c.1772C>T (p.Pro591Leu)
|
rs1558662903
|
|
NM_000179.3(MSH6):c.1774G>A (p.Val592Ile)
|
rs1558662912
|
|
NM_000179.3(MSH6):c.1777C>A (p.Gln593Lys)
|
|
|
NM_000179.3(MSH6):c.1778A>T (p.Gln593Leu)
|
rs2104367077
|
|
NM_000179.3(MSH6):c.1780G>A (p.Val594Ile)
|
rs757029447
|
|
NM_000179.3(MSH6):c.1780G>C (p.Val594Leu)
|
rs757029447
|
|
NM_000179.3(MSH6):c.1781T>A (p.Val594Asp)
|
|
|
NM_000179.3(MSH6):c.1781T>G (p.Val594Gly)
|
rs1669372526
|
|
NM_000179.3(MSH6):c.1784T>C (p.Leu595Ser)
|
rs1553413170
|
|
NM_000179.3(MSH6):c.1785_1787del (p.Leu595del)
|
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
NM_000179.3(MSH6):c.1786T>C (p.Phe596Leu)
|
|
|
NM_000179.3(MSH6):c.1787T>A (p.Phe596Tyr)
|
rs1064793774
|
|
NM_000179.3(MSH6):c.1787T>C (p.Phe596Ser)
|
rs1064793774
|
|
NM_000179.3(MSH6):c.1787T>G (p.Phe596Cys)
|
rs1064793774
|
|
NM_000179.3(MSH6):c.1790A>G (p.Glu597Gly)
|
rs1553413180
|
|
NM_000179.3(MSH6):c.1791A>C (p.Glu597Asp)
|
rs1114167769
|
|
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)
|
rs587779919
|
|
NM_000179.3(MSH6):c.1796G>A (p.Gly599Glu)
|
|
|
NM_000179.3(MSH6):c.1796G>C (p.Gly599Ala)
|
rs1558663014
|
|
NM_000179.3(MSH6):c.1797A>T (p.Gly599=)
|
rs1279647909
|
|
NM_000179.3(MSH6):c.1798A>T (p.Asn600Tyr)
|
|
|
NM_000179.3(MSH6):c.179T>C (p.Leu60Ser)
|
|
|
NM_000179.3(MSH6):c.17C>T (p.Thr6Ile)
|
rs1572697743
|
|
NM_000179.3(MSH6):c.1801C>A (p.Leu601Ile)
|
|
|
NM_000179.3(MSH6):c.1801C>G (p.Leu601Val)
|
rs1553413197
|
|
NM_000179.3(MSH6):c.1805C>T (p.Ser602Leu)
|
|
|
NM_000179.3(MSH6):c.1807A>G (p.Lys603Glu)
|
|
|
NM_000179.3(MSH6):c.1810G>A (p.Glu604Lys)
|
rs1669375976
|
|
NM_000179.3(MSH6):c.1813A>C (p.Thr605Pro)
|
rs780167298
|
|
NM_000179.3(MSH6):c.1814C>A (p.Thr605Asn)
|
rs587781616
|
|
NM_000179.3(MSH6):c.1817A>C (p.Lys606Thr)
|
|
|
NM_000179.3(MSH6):c.1817A>G (p.Lys606Arg)
|
rs1572724507
|
|
NM_000179.3(MSH6):c.1819A>G (p.Thr607Ala)
|
rs1204144048
|
|
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg)
|
rs786201676
|
|
NM_000179.3(MSH6):c.1822A>T (p.Ile608Phe)
|
rs201613780
|
|
NM_000179.3(MSH6):c.1826T>C (p.Leu609Pro)
|
rs1669378654
|
|
NM_000179.3(MSH6):c.1829A>G (p.Lys610Arg)
|
rs1558663145
|
|
NM_000179.3(MSH6):c.1829A>T (p.Lys610Met)
|
rs1558663145
|
|
NM_000179.3(MSH6):c.182C>A (p.Ala61Glu)
|
|
|
NM_000179.3(MSH6):c.1831A>C (p.Ser611Arg)
|
rs1669379939
|
|
NM_000179.3(MSH6):c.1833T>G (p.Ser611Arg)
|
rs1553413220
|
|
NM_000179.3(MSH6):c.1834T>A (p.Ser612Thr)
|
rs2104370431
|
|
NM_000179.3(MSH6):c.1835C>T (p.Ser612Leu)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1836_1841dup (p.Ser614_Cys615insLeuSer)
|
|
|
NM_000179.3(MSH6):c.1839G>T (p.Leu613Phe)
|
|
|
NM_000179.3(MSH6):c.183_184delinsAA (p.Arg62Ser)
|
rs2103940834
|
|
NM_000179.3(MSH6):c.1841C>G (p.Ser614Cys)
|
rs1669381714
|
|
NM_000179.3(MSH6):c.1841C>T (p.Ser614Phe)
|
rs1669381714
|
|
NM_000179.3(MSH6):c.1843T>C (p.Cys615Arg)
|
rs1572724620
|
|
NM_000179.3(MSH6):c.1844G>A (p.Cys615Tyr)
|
rs730881793
|
|
NM_000179.3(MSH6):c.1845T>G (p.Cys615Trp)
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
NM_000179.3(MSH6):c.1849C>T (p.Leu617Phe)
|
rs773619924
|
|
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)
|
rs876659508
|
|
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)
|
rs876659508
|
|
NM_000179.3(MSH6):c.1850T>G (p.Leu617Arg)
|
rs1553413228
|
|
NM_000179.3(MSH6):c.1853A>C (p.Gln618Pro)
|
rs747576518
|
|
NM_000179.3(MSH6):c.1855G>A (p.Glu619Lys)
|
rs1669384406
|
|
NM_000179.3(MSH6):c.1858G>T (p.Gly620Cys)
|
rs876661043
|
|
NM_000179.3(MSH6):c.1859G>A (p.Gly620Asp)
|
|
|
NM_000179.3(MSH6):c.1859G>C (p.Gly620Ala)
|
rs1669385083
|
|
NM_000179.3(MSH6):c.185G>A (p.Arg62His)
|
rs867979237
|
|
NM_000179.3(MSH6):c.185G>C (p.Arg62Pro)
|
rs867979237
|
|
NM_000179.3(MSH6):c.185G>T (p.Arg62Leu)
|
rs867979237
|
|
NM_000179.3(MSH6):c.1861C>G (p.Leu621Val)
|
rs1669385359
|
|
NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)
|
|
|
NM_000179.3(MSH6):c.1866A>G (p.Ile622Met)
|
rs1042817
|
|
NM_000179.3(MSH6):c.1867C>T (p.Pro623Ser)
|
|
|
NM_000179.3(MSH6):c.1868C>A (p.Pro623His)
|
rs63750462
|
|
NM_000179.3(MSH6):c.1868C>T (p.Pro623Leu)
|
rs63750462
|
|
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
|
|
|
NM_000179.3(MSH6):c.1874C>G (p.Ser625Cys)
|
rs773927995
|
|
NM_000179.3(MSH6):c.1876C>G (p.Gln626Glu)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1877A>G (p.Gln626Arg)
|
rs1553413257
|
|
NM_000179.3(MSH6):c.1878G>C (p.Gln626His)
|
rs767285340
|
|
NM_000179.3(MSH6):c.187T>A (p.Ser63Thr)
|
rs763702846
|
|
NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)
|
rs763702846
|
|
NM_000179.3(MSH6):c.1882T>C (p.Trp628Arg)
|
rs1669388132
|
|
NM_000179.3(MSH6):c.1885G>C (p.Asp629His)
|
rs1064795030
|
|
NM_000179.3(MSH6):c.1885G>T (p.Asp629Tyr)
|
rs1064795030
|
|
NM_000179.3(MSH6):c.1886A>G (p.Asp629Gly)
|
rs2104373880
|
|
NM_000179.3(MSH6):c.1887T>G (p.Asp629Glu)
|
rs876660921
|
|
NM_000179.3(MSH6):c.1888G>C (p.Ala630Pro)
|
rs1572724808
|
|
NM_000179.3(MSH6):c.1888G>T (p.Ala630Ser)
|
|
|
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)
|
rs587779920
|
|
NM_000179.3(MSH6):c.188C>T (p.Ser63Phe)
|
rs587779920
|
|
NM_000179.3(MSH6):c.1892C>T (p.Ser631Phe)
|
|
|
NM_000179.3(MSH6):c.1895A>G (p.Lys632Arg)
|
rs750800736
|
|
NM_000179.3(MSH6):c.1896A>C (p.Lys632Asn)
|
rs1669389662
|
|
NM_000179.3(MSH6):c.1898C>G (p.Thr633Ser)
|
rs1553413271
|
|
NM_000179.3(MSH6):c.1900T>G (p.Leu634Val)
|
|
|
NM_000179.3(MSH6):c.1901T>C (p.Leu634Ser)
|
|
|
NM_000179.3(MSH6):c.1903A>G (p.Arg635Gly)
|
|
|
NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)
|
rs1558663439
|
|
NM_000179.3(MSH6):c.1904G>C (p.Arg635Thr)
|
|
|
NM_000179.3(MSH6):c.1906A>G (p.Thr636Ala)
|
|
|
NM_000179.3(MSH6):c.1907C>A (p.Thr636Asn)
|
rs1553413281
|
|
NM_000179.3(MSH6):c.1907C>G (p.Thr636Ser)
|
rs1553413281
|
|
NM_000179.3(MSH6):c.1907C>T (p.Thr636Ile)
|
rs1553413281
|
|
NM_000179.3(MSH6):c.1909C>G (p.Leu637Val)
|
rs1669391709
|
|
NM_000179.3(MSH6):c.1909C>T (p.Leu637Phe)
|
rs1669391709
|
|
NM_000179.3(MSH6):c.1910T>A (p.Leu637His)
|
|
|
NM_000179.3(MSH6):c.1911_1912delinsTG (p.Leu638Val)
|
rs1553413293
|
|
NM_000179.3(MSH6):c.1912_1914del (p.Leu638del)
|
rs1060502877
|
|
NM_000179.3(MSH6):c.1913T>C (p.Leu638Pro)
|
rs1553413298
|
|
NM_000179.3(MSH6):c.1915G>C (p.Glu639Gln)
|
|
|
NM_000179.3(MSH6):c.1917G>C (p.Glu639Asp)
|
rs368059229
|
|
NM_000179.3(MSH6):c.1918G>A (p.Glu640Lys)
|
|
|
NM_000179.3(MSH6):c.1918GAA[1] (p.Glu641del)
|
rs786203970
|
|
NM_000179.3(MSH6):c.1919A>G (p.Glu640Gly)
|
rs953951846
|
|
NM_000179.3(MSH6):c.191C>A (p.Ala64Glu)
|
rs1553408348
|
|
NM_000179.3(MSH6):c.191C>T (p.Ala64Val)
|
rs1553408348
|
|
NM_000179.3(MSH6):c.1920A>T (p.Glu640Asp)
|
rs1572724974
|
|
NM_000179.3(MSH6):c.1922A>G (p.Glu641Gly)
|
rs2104376429
|
|
NM_000179.3(MSH6):c.1924T>C (p.Tyr642His)
|
|
|
NM_000179.3(MSH6):c.1929T>A (p.Phe643Leu)
|
rs1057523080
|
|
NM_000179.3(MSH6):c.1930A>T (p.Arg644Trp)
|
|
|
NM_000179.3(MSH6):c.1931G>A (p.Arg644Lys)
|
|
|
NM_000179.3(MSH6):c.1936A>G (p.Lys646Glu)
|
rs2104377347
|
|
NM_000179.3(MSH6):c.1938G>T (p.Lys646Asn)
|
rs758631207
|
|
NM_000179.3(MSH6):c.1939C>G (p.Leu647Val)
|
rs2104377614
|
|
NM_000179.3(MSH6):c.193T>A (p.Ser65Thr)
|
|
|
NM_000179.3(MSH6):c.193T>C (p.Ser65Pro)
|
rs1553408350
|
|
NM_000179.3(MSH6):c.193T>G (p.Ser65Ala)
|
rs1553408350
|
|
NM_000179.3(MSH6):c.1940T>A (p.Leu647Gln)
|
rs1669396442
|
|
NM_000179.3(MSH6):c.1940T>C (p.Leu647Pro)
|
|
|
NM_000179.3(MSH6):c.1942A>C (p.Ser648Arg)
|
rs965228819
|
|
NM_000179.3(MSH6):c.1943G>T (p.Ser648Ile)
|
rs876661082
|
|
NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly)
|
rs777799551
|
|
NM_000179.3(MSH6):c.1949G>A (p.Gly650Asp)
|
rs1669397095
|
|
NM_000179.3(MSH6):c.1954G>C (p.Gly652Arg)
|
rs1553413323
|
|
NM_000179.3(MSH6):c.1954G>T (p.Gly652Trp)
|
rs1553413323
|
|
NM_000179.3(MSH6):c.1955G>A (p.Gly652Glu)
|
rs1558663683
|
|
NM_000179.3(MSH6):c.1957G>T (p.Val653Leu)
|
rs768095444
|
|
NM_000179.3(MSH6):c.1960A>C (p.Met654Leu)
|
rs1669399925
|
|
NM_000179.3(MSH6):c.1960A>G (p.Met654Val)
|
rs1669399925
|
|
NM_000179.3(MSH6):c.1963T>A (p.Leu655Ile)
|
rs786203468
|
|
NM_000179.3(MSH6):c.1964T>C (p.Leu655Ser)
|
rs2104379257
|
|
NM_000179.3(MSH6):c.1967C>G (p.Pro656Arg)
|
rs1669401102
|
|
NM_000179.3(MSH6):c.1967C>T (p.Pro656Leu)
|
rs1669401102
|
|
NM_000179.3(MSH6):c.196C>A (p.Pro66Thr)
|
|
|
NM_000179.3(MSH6):c.196C>G (p.Pro66Ala)
|
rs1572698406
|
|
NM_000179.3(MSH6):c.1971G>A (p.Gln657=)
|
rs1553413339
|
|
NM_000179.3(MSH6):c.1971G>C (p.Gln657His)
|
rs1553413339
|
|
NM_000179.3(MSH6):c.1971G>T (p.Gln657His)
|
|
|
NM_000179.3(MSH6):c.1972G>A (p.Val658Met)
|
rs1553413340
|
|
NM_000179.3(MSH6):c.1972G>T (p.Val658Leu)
|
rs1553413340
|
|
NM_000179.3(MSH6):c.1975C>T (p.Leu659Phe)
|
rs1669402625
|
|
NM_000179.3(MSH6):c.1978A>G (p.Lys660Glu)
|
rs1060502894
|
|
NM_000179.3(MSH6):c.1979A>C (p.Lys660Thr)
|
rs1669403194
|
|
NM_000179.3(MSH6):c.197C>A (p.Pro66Gln)
|
rs730881812
|
|
NM_000179.3(MSH6):c.1982G>A (p.Gly661Asp)
|
rs1553413342
|
|
NM_000179.3(MSH6):c.1984A>T (p.Met662Leu)
|
rs1060502935
|
|
NM_000179.3(MSH6):c.1985T>C (p.Met662Thr)
|
rs1553413349
|
|
NM_000179.3(MSH6):c.1985T>G (p.Met662Arg)
|
|
|
NM_000179.3(MSH6):c.1985_1987dup (p.Met662dup)
|
rs1669404423
|
|
NM_000179.3(MSH6):c.1986G>A (p.Met662Ile)
|
rs1669404759
|
|
NM_000179.3(MSH6):c.1988C>G (p.Thr663Ser)
|
|
|
NM_000179.3(MSH6):c.1988C>T (p.Thr663Ile)
|
rs1558663789
|
|
NM_000179.3(MSH6):c.1990T>G (p.Ser664Ala)
|
rs1558663809
|
|
NM_000179.3(MSH6):c.1991C>T (p.Ser664Leu)
|
rs1553413355
|
|
NM_000179.3(MSH6):c.1994A>G (p.Glu665Gly)
|
rs786201952
|
|
NM_000179.3(MSH6):c.1996T>C (p.Ser666Pro)
|
rs587779222
|
|
NM_000179.3(MSH6):c.1997C>A (p.Ser666Tyr)
|
rs760494271
|
|
NM_000179.3(MSH6):c.1997C>G (p.Ser666Cys)
|
rs760494271
|
|
NM_000179.3(MSH6):c.199C>A (p.Pro67Thr)
|
rs878853712
|
|
NM_000179.3(MSH6):c.199C>T (p.Pro67Ser)
|
rs878853712
|
|
NM_000179.3(MSH6):c.19C>A (p.Leu7Met)
|
rs1064795094
|
|
NM_000179.3(MSH6):c.19C>G (p.Leu7Val)
|
rs1064795094
|
|
NM_000179.3(MSH6):c.2000A>T (p.Asp667Val)
|
rs2104381654
|
|
NM_000179.3(MSH6):c.2001T>G (p.Asp667Glu)
|
rs1361745058
|
|
NM_000179.3(MSH6):c.2002T>C (p.Ser668Pro)
|
rs876661080
|
|
NM_000179.3(MSH6):c.2003C>T (p.Ser668Phe)
|
rs923709484
|
|
NM_000179.3(MSH6):c.2009G>C (p.Gly670Ala)
|
rs2104382452
|
|
NM_000179.3(MSH6):c.2011T>A (p.Leu671Met)
|
|
|
NM_000179.3(MSH6):c.2013G>A (p.Leu671=)
|
rs765289515
|
|
NM_000179.3(MSH6):c.2013G>T (p.Leu671Phe)
|
rs765289515
|
|
NM_000179.3(MSH6):c.2015C>T (p.Thr672Ile)
|
rs1460598011
|
|
NM_000179.3(MSH6):c.2017C>A (p.Pro673Thr)
|
|
|
NM_000179.3(MSH6):c.2017C>T (p.Pro673Ser)
|
rs377356882
|
|
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu)
|
rs864622085
|
|
NM_000179.3(MSH6):c.2021G>C (p.Gly674Ala)
|
|
|
NM_000179.3(MSH6):c.2023G>C (p.Glu675Gln)
|
rs878853713
|
|
NM_000179.3(MSH6):c.2024A>G (p.Glu675Gly)
|
rs1572725363
|
|
NM_000179.3(MSH6):c.2024_2029del (p.Glu675_Ser677delinsGly)
|
|
|
NM_000179.3(MSH6):c.2027A>C (p.Lys676Thr)
|
|
|
NM_000179.3(MSH6):c.2027A>T (p.Lys676Ile)
|
|
|
NM_000179.3(MSH6):c.2029A>G (p.Ser677Gly)
|
|
|
NM_000179.3(MSH6):c.2030G>A (p.Ser677Asn)
|
rs587779224
|
|
NM_000179.3(MSH6):c.2033A>G (p.Glu678Gly)
|
rs1553413404
|
|
NM_000179.3(MSH6):c.2035T>G (p.Leu679Val)
|
rs757741943
|
|
NM_000179.3(MSH6):c.2036T>G (p.Leu679Trp)
|
rs781668793
|
|
NM_000179.3(MSH6):c.2038G>A (p.Ala680Thr)
|
rs1572725427
|
|
NM_000179.3(MSH6):c.2038G>C (p.Ala680Pro)
|
|
|
NM_000179.3(MSH6):c.2041C>G (p.Leu681Val)
|
rs1553413412
|
|
NM_000179.3(MSH6):c.2041C>T (p.Leu681Phe)
|
rs1553413412
|
|
NM_000179.3(MSH6):c.2044T>G (p.Ser682Ala)
|
|
|
NM_000179.3(MSH6):c.2045C>A (p.Ser682Tyr)
|
rs587779225
|
|
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe)
|
rs587779225
|
|
NM_000179.3(MSH6):c.2046T>A (p.Ser682=)
|
rs755329012
|
|
NM_000179.3(MSH6):c.2048C>G (p.Ala683Gly)
|
rs747699430
|
|
NM_000179.3(MSH6):c.2048C>T (p.Ala683Val)
|
rs747699430
|
|
NM_000179.3(MSH6):c.2050C>G (p.Leu684Val)
|
rs771445440
|
|
NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg)
|
rs1553413427
|
|
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000179.3(MSH6):c.2054G>C (p.Gly685Ala)
|
rs63750358
|
|
NM_000179.3(MSH6):c.205G>A (p.Ala69Thr)
|
rs1382081255
|
|
NM_000179.3(MSH6):c.2060G>A (p.Cys687Tyr)
|
|
|
NM_000179.3(MSH6):c.2060G>C (p.Cys687Ser)
|
rs1553413433
|
|
NM_000179.3(MSH6):c.2060G>T (p.Cys687Phe)
|
rs1553413433
|
|
NM_000179.3(MSH6):c.2061T>G (p.Cys687Trp)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile)
|
rs1201347192
|
|
NM_000179.3(MSH6):c.2065T>G (p.Phe689Val)
|
rs1558664138
|
|
NM_000179.3(MSH6):c.2066T>A (p.Phe689Tyr)
|
|
|
NM_000179.3(MSH6):c.2069A>G (p.Tyr690Cys)
|
rs730881794
|
|
NM_000179.3(MSH6):c.2069A>T (p.Tyr690Phe)
|
rs730881794
|
|
NM_000179.3(MSH6):c.206C>G (p.Ala69Gly)
|
|
|
NM_000179.3(MSH6):c.206C>T (p.Ala69Val)
|
rs1558645360
|
|
NM_000179.3(MSH6):c.2071C>G (p.Leu691Val)
|
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
NM_000179.3(MSH6):c.2076A>C (p.Lys692Asn)
|
rs1669417999
|
|
NM_000179.3(MSH6):c.2078A>C (p.Lys693Thr)
|
|
|
NM_000179.3(MSH6):c.207GAA[3] (p.Lys70dup)
|
rs1553408369
|
|
NM_000179.3(MSH6):c.2083C>T (p.Leu695Phe)
|
rs1669418611
|
|
NM_000179.3(MSH6):c.2084T>G (p.Leu695Arg)
|
|
|
NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr)
|
rs587779229
|
|
NM_000179.3(MSH6):c.2089G>C (p.Asp697His)
|
rs1553413460
|
|
NM_000179.3(MSH6):c.2093A>G (p.Gln698Arg)
|
rs1553413465
|
|
NM_000179.3(MSH6):c.2095G>A (p.Glu699Lys)
|
rs1553413470
|
|
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile)
|
rs587779230
|
|
NM_000179.3(MSH6):c.2098C>G (p.Leu700Val)
|
rs587779230
|
|
NM_000179.3(MSH6):c.2098C>T (p.Leu700Phe)
|
rs587779230
|
|
NM_000179.3(MSH6):c.209A>C (p.Lys70Thr)
|
rs1668133034
|
|
NM_000179.3(MSH6):c.20T>C (p.Leu7Pro)
|
rs2103931561
|
|
NM_000179.3(MSH6):c.2102T>C (p.Leu701Ser)
|
rs1669420541
|
|
NM_000179.3(MSH6):c.2105C>T (p.Ser702Leu)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
NM_000179.3(MSH6):c.2111C>T (p.Ala704Val)
|
rs370237509
|
|
NM_000179.3(MSH6):c.2113A>G (p.Asn705Asp)
|
|
|
NM_000179.3(MSH6):c.2113A>T (p.Asn705Tyr)
|
rs1669422012
|
|
NM_000179.3(MSH6):c.2116T>A (p.Phe706Ile)
|
rs2104389521
|
|
NM_000179.3(MSH6):c.2116T>G (p.Phe706Val)
|
rs2104389521
|
|
NM_000179.3(MSH6):c.211A>C (p.Asn71His)
|
rs1558645379
|
|
NM_000179.3(MSH6):c.211A>G (p.Asn71Asp)
|
rs1558645379
|
|
NM_000179.3(MSH6):c.2120A>C (p.Glu707Ala)
|
rs1553413485
|
|
NM_000179.3(MSH6):c.2120A>G (p.Glu707Gly)
|
rs1553413485
|
|
NM_000179.3(MSH6):c.2123A>G (p.Glu708Gly)
|
rs1669422822
|
|
NM_000179.3(MSH6):c.2125T>G (p.Tyr709Asp)
|
rs1669423193
|
|
NM_000179.3(MSH6):c.2126A>G (p.Tyr709Cys)
|
rs1558664366
|
|
NM_000179.3(MSH6):c.2128A>G (p.Ile710Val)
|
rs1669423758
|
|
NM_000179.3(MSH6):c.2129T>A (p.Ile710Asn)
|
rs750817344
|
|
NM_000179.3(MSH6):c.212A>C (p.Asn71Thr)
|
rs1553408375
|
|
NM_000179.3(MSH6):c.2131C>A (p.Pro711Thr)
|
rs878853714
|
|
NM_000179.3(MSH6):c.2131C>T (p.Pro711Ser)
|
rs878853714
|
|
NM_000179.3(MSH6):c.2135T>C (p.Leu712Ser)
|
rs371414784
|
|
NM_000179.3(MSH6):c.2137G>T (p.Asp713Tyr)
|
|
|
NM_000179.3(MSH6):c.2138A>G (p.Asp713Gly)
|
rs730881795
|
|
NM_000179.3(MSH6):c.213C>A (p.Asn71Lys)
|
|
|
NM_000179.3(MSH6):c.2144A>G (p.Asp715Gly)
|
rs1669425686
|
|
NM_000179.3(MSH6):c.2147C>A (p.Thr716Lys)
|
|
|
NM_000179.3(MSH6):c.2147C>G (p.Thr716Arg)
|
rs587782805
|
|
NM_000179.3(MSH6):c.2149G>A (p.Val717Ile)
|
rs1558664476
|
|
NM_000179.3(MSH6):c.2149G>C (p.Val717Leu)
|
rs1558664476
|
|
NM_000179.3(MSH6):c.2149G>T (p.Val717Phe)
|
rs1558664476
|
|
NM_000179.3(MSH6):c.214C>G (p.Leu72Val)
|
rs786201910
|
|
NM_000179.3(MSH6):c.214C>T (p.Leu72Phe)
|
rs786201910
|
|
NM_000179.3(MSH6):c.2152A>G (p.Ser718Gly)
|
rs1003027504
|
|
NM_000179.3(MSH6):c.2152A>T (p.Ser718Cys)
|
rs1003027504
|
|
NM_000179.3(MSH6):c.2153G>C (p.Ser718Thr)
|
rs1669427136
|
|
NM_000179.3(MSH6):c.2154C>A (p.Ser718Arg)
|
rs771662801
|
|
NM_000179.3(MSH6):c.2156C>G (p.Thr719Ser)
|
rs373418713
|
|
NM_000179.3(MSH6):c.2158A>G (p.Thr720Ala)
|
rs1258419289
|
|
NM_000179.3(MSH6):c.2159C>G (p.Thr720Arg)
|
rs185531778
|
|
NM_000179.3(MSH6):c.215T>C (p.Leu72Pro)
|
|
|
NM_000179.3(MSH6):c.2161A>C (p.Arg721=)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2162G>A (p.Arg721Lys)
|
rs876660319
|
|
NM_000179.3(MSH6):c.2162G>T (p.Arg721Ile)
|
rs876660319
|
|
NM_000179.3(MSH6):c.2165C>T (p.Ser722Phe)
|
rs776198410
|
|
NM_000179.3(MSH6):c.2167G>A (p.Gly723Ser)
|
|
|
NM_000179.3(MSH6):c.2167G>C (p.Gly723Arg)
|
rs1064793492
|
|
NM_000179.3(MSH6):c.2168G>T (p.Gly723Val)
|
|
|
NM_000179.3(MSH6):c.2170G>A (p.Ala724Thr)
|
rs1254757804
|
|
NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)
|
rs587779922
|
|
NM_000179.3(MSH6):c.2173A>C (p.Ile725Leu)
|
rs148898662
|
|
NM_000179.3(MSH6):c.2176T>C (p.Phe726Leu)
|
rs876660381
|
|
NM_000179.3(MSH6):c.2177T>C (p.Phe726Ser)
|
rs574358605
|
|
NM_000179.3(MSH6):c.2178C>A (p.Phe726Leu)
|
rs1406957215
|
|
NM_000179.3(MSH6):c.2179A>T (p.Thr727Ser)
|
rs761930694
|
|
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile)
|
rs767861096
|
|
NM_000179.3(MSH6):c.2182A>G (p.Lys728Glu)
|
rs1572726086
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
NM_000179.3(MSH6):c.2184A>C (p.Lys728Asn)
|
rs1553413552
|
|
NM_000179.3(MSH6):c.2186C>G (p.Ala729Gly)
|
rs1553413553
|
|
NM_000179.3(MSH6):c.2186C>T (p.Ala729Val)
|
rs1553413553
|
|
NM_000179.3(MSH6):c.2189A>T (p.Tyr730Phe)
|
rs587782900
|
|
NM_000179.3(MSH6):c.218A>G (p.Asn73Ser)
|
|
|
NM_000179.3(MSH6):c.218A>T (p.Asn73Ile)
|
|
|
NM_000179.3(MSH6):c.2191C>G (p.Gln731Glu)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2192A>T (p.Gln731Leu)
|
rs1553413559
|
|
NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)
|
rs749746725
|
|
NM_000179.3(MSH6):c.2197A>G (p.Met733Val)
|
rs1355166868
|
|
NM_000179.3(MSH6):c.2199G>A (p.Met733Ile)
|
rs1359474814
|
|
NM_000179.3(MSH6):c.2199G>C (p.Met733Ile)
|
rs1359474814
|
|
NM_000179.3(MSH6):c.2200G>A (p.Val734Met)
|
rs587780671
|
|
NM_000179.3(MSH6):c.2200G>C (p.Val734Leu)
|
rs587780671
|
|
NM_000179.3(MSH6):c.2201T>A (p.Val734Glu)
|
rs1060502883
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
NM_000179.3(MSH6):c.2203C>G (p.Leu735Val)
|
rs786204071
|
|
NM_000179.3(MSH6):c.220G>A (p.Gly74Arg)
|
rs1553408388
|
|
NM_000179.3(MSH6):c.2210C>G (p.Ala737Gly)
|
rs869312798
|
|
NM_000179.3(MSH6):c.2213T>C (p.Val738Ala)
|
rs1572726232
|
|
NM_000179.3(MSH6):c.2215A>G (p.Thr739Ala)
|
rs1553413582
|
|
NM_000179.3(MSH6):c.2216C>T (p.Thr739Ile)
|
rs1553413583
|
|
NM_000179.3(MSH6):c.221G>T (p.Gly74Val)
|
|
|
NM_000179.3(MSH6):c.2223C>A (p.Asn741Lys)
|
|
|
NM_000179.3(MSH6):c.2225A>C (p.Asn742Thr)
|
rs878853715
|
|
NM_000179.3(MSH6):c.2225A>G (p.Asn742Ser)
|
rs878853715
|
|
NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys)
|
rs587781739
|
|
NM_000179.3(MSH6):c.222A>T (p.Gly74=)
|
rs888377589
|
|
NM_000179.3(MSH6):c.2232G>C (p.Glu744Asp)
|
|
|
NM_000179.3(MSH6):c.2232G>T (p.Glu744Asp)
|
|
|
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)
|
rs556339046
|
|
NM_000179.3(MSH6):c.2236T>C (p.Phe746Leu)
|
rs1553413604
|
|
NM_000179.3(MSH6):c.2239C>G (p.Leu747Val)
|
|
|
NM_000179.3(MSH6):c.2240T>G (p.Leu747Arg)
|
rs876660234
|
|
NM_000179.3(MSH6):c.2243A>G (p.Asn748Ser)
|
rs1669438423
|
|
NM_000179.3(MSH6):c.2245G>A (p.Gly749Arg)
|
rs876660143
|
|
NM_000179.3(MSH6):c.2246G>A (p.Gly749Glu)
|
rs1060502916
|
|
NM_000179.3(MSH6):c.2246G>C (p.Gly749Ala)
|
rs1060502916
|
|
NM_000179.3(MSH6):c.2246G>T (p.Gly749Val)
|
rs1060502916
|
|
NM_000179.3(MSH6):c.2249C>T (p.Thr750Ile)
|
rs730881817
|
|
NM_000179.3(MSH6):c.224G>A (p.Gly75Glu)
|
rs1572698482
|
|
NM_000179.3(MSH6):c.2251A>C (p.Asn751His)
|
|
|
NM_000179.3(MSH6):c.2252A>G (p.Asn751Ser)
|
|
|
NM_000179.3(MSH6):c.2252A>T (p.Asn751Ile)
|
rs1553413626
|
|
NM_000179.3(MSH6):c.2253T>G (p.Asn751Lys)
|
|
|
NM_000179.3(MSH6):c.2253_2254inv (p.Gly752Ser)
|
|
|
NM_000179.3(MSH6):c.2254G>C (p.Gly752Arg)
|
rs1296033854
|
|
NM_000179.3(MSH6):c.2255G>C (p.Gly752Ala)
|
|
|
NM_000179.3(MSH6):c.2258C>A (p.Ser753Tyr)
|
rs876660934
|
|
NM_000179.3(MSH6):c.2258C>T (p.Ser753Phe)
|
rs876660934
|
|
NM_000179.3(MSH6):c.225G>T (p.Gly75=)
|
rs786202321
|
|
NM_000179.3(MSH6):c.2260A>G (p.Thr754Ala)
|
rs545057945
|
|
NM_000179.3(MSH6):c.2261C>T (p.Thr754Ile)
|
rs1669440639
|
|
NM_000179.3(MSH6):c.2262_2270del (p.Glu755_Thr757del)
|
|
|
NM_000179.3(MSH6):c.2263G>A (p.Glu755Lys)
|
rs1669440921
|
|
NM_000179.3(MSH6):c.2264A>C (p.Glu755Ala)
|
rs1669441030
|
|
NM_000179.3(MSH6):c.2264A>G (p.Glu755Gly)
|
|
|
NM_000179.3(MSH6):c.2265A>C (p.Glu755Asp)
|
rs1553413644
|
|
NM_000179.3(MSH6):c.2266G>C (p.Gly756Arg)
|
rs1669441430
|
|
NM_000179.3(MSH6):c.2270C>A (p.Thr757Asn)
|
rs1553413648
|
|
NM_000179.3(MSH6):c.2270C>T (p.Thr757Ile)
|
rs1553413648
|
|
NM_000179.3(MSH6):c.2272C>G (p.Leu758Val)
|
rs56371757
|
|
NM_000179.3(MSH6):c.2275C>G (p.Leu759Val)
|
rs1669442548
|
|
NM_000179.3(MSH6):c.2278G>A (p.Glu760Lys)
|
|
|
NM_000179.3(MSH6):c.2278G>C (p.Glu760Gln)
|
rs1322642187
|
|
NM_000179.3(MSH6):c.227T>A (p.Leu76Gln)
|
rs587780672
|
|
NM_000179.3(MSH6):c.2280G>C (p.Glu760Asp)
|
|
|
NM_000179.3(MSH6):c.2280G>T (p.Glu760Asp)
|
rs1204279922
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2282G>T (p.Arg761Met)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2284G>A (p.Val762Ile)
|
rs1669443766
|
|
NM_000179.3(MSH6):c.2285T>C (p.Val762Ala)
|
rs2104398448
|
|
NM_000179.3(MSH6):c.2287G>A (p.Asp763Asn)
|
rs1558664969
|
|
NM_000179.3(MSH6):c.2287G>C (p.Asp763His)
|
|
|
NM_000179.3(MSH6):c.2288A>G (p.Asp763Gly)
|
rs1060502913
|
|
NM_000179.3(MSH6):c.2294G>A (p.Cys765Tyr)
|
|
|
NM_000179.3(MSH6):c.2294G>C (p.Cys765Ser)
|
rs1553413671
|
|
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2297A>G (p.His766Arg)
|
rs1060502870
|
|
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
|
rs768535330
|
|
NM_000179.3(MSH6):c.2299A>G (p.Thr767Ala)
|
rs774452933
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2303C>G (p.Pro768Arg)
|
rs773162893
|
|
NM_000179.3(MSH6):c.2303C>T (p.Pro768Leu)
|
rs773162893
|
|
NM_000179.3(MSH6):c.2303_2305del (p.Pro768_Phe769delinsLeu)
|
|
|
NM_000179.3(MSH6):c.2309G>A (p.Gly770Asp)
|
rs587781478
|
|
NM_000179.3(MSH6):c.230G>A (p.Arg77Gln)
|
rs1039603215
|
|
NM_000179.3(MSH6):c.2312A>C (p.Lys771Thr)
|
rs864622586
|
|
NM_000179.3(MSH6):c.2312A>T (p.Lys771Met)
|
rs864622586
|
|
NM_000179.3(MSH6):c.2313G>T (p.Lys771Asn)
|
rs1572726671
|
|
NM_000179.3(MSH6):c.2317C>T (p.Leu773Phe)
|
rs1064793871
|
|
NM_000179.3(MSH6):c.2318T>A (p.Leu773His)
|
rs863224623
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
NM_000179.3(MSH6):c.2321T>C (p.Leu774Pro)
|
|
|
NM_000179.3(MSH6):c.2323A>C (p.Lys775Gln)
|
rs759915781
|
|
NM_000179.3(MSH6):c.2327A>T (p.Gln776Leu)
|
rs1669449123
|
|
NM_000179.3(MSH6):c.2328A>T (p.Gln776His)
|
rs1463214972
|
|
NM_000179.3(MSH6):c.232A>G (p.Arg78Gly)
|
rs1553408408
|
|
NM_000179.3(MSH6):c.2332C>G (p.Leu778Val)
|
rs1276682605
|
|
NM_000179.3(MSH6):c.2332C>T (p.Leu778Phe)
|
rs1276682605
|
|
NM_000179.3(MSH6):c.2333T>A (p.Leu778His)
|
rs2104401359
|
|
NM_000179.3(MSH6):c.2335T>C (p.Cys779Arg)
|
rs1320505279
|
|
NM_000179.3(MSH6):c.2335T>G (p.Cys779Gly)
|
rs1320505279
|
|
NM_000179.3(MSH6):c.2336G>A (p.Cys779Tyr)
|
rs1669450482
|
|
NM_000179.3(MSH6):c.2336G>T (p.Cys779Phe)
|
|
|
NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2344C>A (p.Leu782Ile)
|
rs1553413714
|
|
NM_000179.3(MSH6):c.2344C>G (p.Leu782Val)
|
rs1553413714
|
|
NM_000179.3(MSH6):c.234A>G (p.Arg78=)
|
rs1553408414
|
|
NM_000179.3(MSH6):c.2350A>G (p.Asn784Asp)
|
rs1669452197
|
|
NM_000179.3(MSH6):c.2352C>G (p.Asn784Lys)
|
rs1553413722
|
|
NM_000179.3(MSH6):c.2353C>G (p.His785Asp)
|
rs1572726859
|
|
NM_000179.3(MSH6):c.2354A>G (p.His785Arg)
|
rs1669452752
|
|
NM_000179.3(MSH6):c.2354A>T (p.His785Leu)
|
rs1669452752
|
|
NM_000179.3(MSH6):c.2355T>A (p.His785Gln)
|
rs1060502942
|
|
NM_000179.3(MSH6):c.2357A>G (p.Tyr786Cys)
|
|
|
NM_000179.3(MSH6):c.2359G>A (p.Ala787Thr)
|
|
|
NM_000179.3(MSH6):c.235T>C (p.Ser79Pro)
|
rs876660300
|
|
NM_000179.3(MSH6):c.2360C>G (p.Ala787Gly)
|
rs63750637
|
|
NM_000179.3(MSH6):c.2362A>G (p.Ile788Val)
|
rs587778530
|
|
NM_000179.3(MSH6):c.2365A>C (p.Asn789His)
|
rs2104402954
|
|
NM_000179.3(MSH6):c.2365_2367del (p.Asn789del)
|
rs2104402921
|
|
NM_000179.3(MSH6):c.2366A>G (p.Asn789Ser)
|
rs2104403001
|
|
NM_000179.3(MSH6):c.236C>T (p.Ser79Leu)
|
rs1428717797
|
|
NM_000179.3(MSH6):c.2371C>T (p.Arg791Cys)
|
rs749918474
|
|
NM_000179.3(MSH6):c.2372G>A (p.Arg791His)
|
rs755587950
|
|
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro)
|
rs587779236
|
|
NM_000179.3(MSH6):c.2375T>G (p.Leu792Arg)
|
|
|
NM_000179.3(MSH6):c.2377G>C (p.Asp793His)
|
rs1553413737
|
|
NM_000179.3(MSH6):c.2378A>G (p.Asp793Gly)
|
|
|
NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)
|
rs865931684
|
|
NM_000179.3(MSH6):c.2387A>G (p.Glu796Gly)
|
rs532445704
|
|
NM_000179.3(MSH6):c.2389G>A (p.Asp797Asn)
|
rs2104404139
|
|
NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)
|
rs587779238
|
|
NM_000179.3(MSH6):c.2392C>T (p.Leu798Phe)
|
|
|
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
|
|
|
NM_000179.3(MSH6):c.2395A>C (p.Met799Leu)
|
rs1669456977
|
|
NM_000179.3(MSH6):c.2395A>G (p.Met799Val)
|
rs1669456977
|
|
NM_000179.3(MSH6):c.2396T>C (p.Met799Thr)
|
rs2104404527
|
|
NM_000179.3(MSH6):c.2397G>A (p.Met799Ile)
|
rs1669457095
|
|
NM_000179.3(MSH6):c.23A>G (p.Tyr8Cys)
|
rs1572697757
|
|
NM_000179.3(MSH6):c.23A>T (p.Tyr8Phe)
|
rs1572697757
|
|
NM_000179.3(MSH6):c.2401G>T (p.Val801Leu)
|
rs1265121267
|
|
NM_000179.3(MSH6):c.2404C>A (p.Pro802Thr)
|
rs1553413764
|
|
NM_000179.3(MSH6):c.2404C>T (p.Pro802Ser)
|
rs1553413764
|
|
NM_000179.3(MSH6):c.2407G>C (p.Asp803His)
|
rs1553413770
|
|
NM_000179.3(MSH6):c.2407G>T (p.Asp803Tyr)
|
rs1553413770
|
|
NM_000179.3(MSH6):c.2411A>C (p.Lys804Thr)
|
rs1558665377
|
|
NM_000179.3(MSH6):c.2414T>A (p.Ile805Asn)
|
rs1572727090
|
|
NM_000179.3(MSH6):c.2414T>C (p.Ile805Thr)
|
rs1572727090
|
|
NM_000179.3(MSH6):c.2415C>G (p.Ile805Met)
|
rs1219649543
|
|
NM_000179.3(MSH6):c.2416T>A (p.Ser806Thr)
|
rs1669459644
|
|
NM_000179.3(MSH6):c.2416T>G (p.Ser806Ala)
|
|
|
NM_000179.3(MSH6):c.241G>T (p.Ala81Ser)
|
rs587779239
|
|
NM_000179.3(MSH6):c.2422G>A (p.Val808Ile)
|
rs1434578765
|
|
NM_000179.3(MSH6):c.2423T>C (p.Val808Ala)
|
|
|
NM_000179.3(MSH6):c.2425G>A (p.Val809Ile)
|
|
|
NM_000179.3(MSH6):c.2425G>T (p.Val809Leu)
|
|
|
NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)
|
rs775815297
|
|
NM_000179.3(MSH6):c.2428G>A (p.Glu810Lys)
|
|
|
NM_000179.3(MSH6):c.2431C>A (p.Leu811Ile)
|
rs1669463455
|
|
NM_000179.3(MSH6):c.2431C>T (p.Leu811Phe)
|
rs1669463455
|
|
NM_000179.3(MSH6):c.2435T>C (p.Leu812Pro)
|
rs1572727192
|
|
NM_000179.3(MSH6):c.2437AAG[1] (p.Lys814del)
|
rs1669464545
|
|
NM_000179.3(MSH6):c.2438A>G (p.Lys813Arg)
|
rs1669464717
|
|
NM_000179.3(MSH6):c.2439G>T (p.Lys813Asn)
|
rs2104406926
|
|
NM_000179.3(MSH6):c.2440A>C (p.Lys814Gln)
|
rs1064793190
|
|
NM_000179.3(MSH6):c.2442G>C (p.Lys814Asn)
|
rs2104407043
|
|
NM_000179.3(MSH6):c.2443C>A (p.Leu815Ile)
|
rs377411318
|
|
NM_000179.3(MSH6):c.2443C>T (p.Leu815Phe)
|
rs377411318
|
|
NM_000179.3(MSH6):c.2444T>G (p.Leu815Arg)
|
rs760129709
|
|
NM_000179.3(MSH6):c.2446C>G (p.Pro816Ala)
|
rs1553413803
|
|
NM_000179.3(MSH6):c.2446C>T (p.Pro816Ser)
|
rs1553413803
|
|
NM_000179.3(MSH6):c.2447C>T (p.Pro816Leu)
|
rs1553413804
|
|
NM_000179.3(MSH6):c.244C>A (p.Pro82Thr)
|
rs2103944233
|
|
NM_000179.3(MSH6):c.244C>T (p.Pro82Ser)
|
|
|
NM_000179.3(MSH6):c.2452C>A (p.Leu818Ile)
|
rs786203612
|
|
NM_000179.3(MSH6):c.2452C>T (p.Leu818Phe)
|
rs786203612
|
|
NM_000179.3(MSH6):c.2455G>C (p.Glu819Gln)
|
rs1669466483
|
|
NM_000179.3(MSH6):c.2459G>A (p.Arg820Lys)
|
rs876661204
|
|
NM_000179.3(MSH6):c.2460G>T (p.Arg820Ser)
|
rs1553413812
|
|
NM_000179.3(MSH6):c.2460_2461delinsAA (p.Leu821Ile)
|
|
|
NM_000179.3(MSH6):c.2461C>G (p.Leu821Val)
|
rs1406567431
|
|
NM_000179.3(MSH6):c.2465T>A (p.Leu822His)
|
rs2104408194
|
|
NM_000179.3(MSH6):c.2469T>G (p.Ser823Arg)
|
|
|
NM_000179.3(MSH6):c.2470A>G (p.Lys824Glu)
|
rs1669467621
|
|
NM_000179.3(MSH6):c.2474T>A (p.Ile825Asn)
|
rs1669467866
|
|
NM_000179.3(MSH6):c.2476C>G (p.His826Asp)
|
rs765891603
|
|
NM_000179.3(MSH6):c.2476C>T (p.His826Tyr)
|
rs765891603
|
|
NM_000179.3(MSH6):c.2477A>G (p.His826Arg)
|
|
|
NM_000179.3(MSH6):c.2478T>G (p.His826Gln)
|
rs1572727338
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
NM_000179.3(MSH6):c.2479A>T (p.Asn827Tyr)
|
|
|
NM_000179.3(MSH6):c.2479_2481del (p.Asn827del)
|
rs1553413826
|
|
NM_000179.3(MSH6):c.247G>A (p.Ala83Thr)
|
rs755964436
|
|
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr)
|
rs1558665569
|
|
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)
|
rs587781349
|
|
NM_000179.3(MSH6):c.2486G>C (p.Gly829Ala)
|
rs1553413832
|
|
NM_000179.3(MSH6):c.2488T>G (p.Ser830Ala)
|
rs1572727368
|
|
NM_000179.3(MSH6):c.2489C>A (p.Ser830Tyr)
|
rs1669469593
|
|
NM_000179.3(MSH6):c.2489C>G (p.Ser830Cys)
|
|
|
NM_000179.3(MSH6):c.2489C>T (p.Ser830Phe)
|
rs1669469593
|
|
NM_000179.3(MSH6):c.248C>A (p.Ala83Asp)
|
rs876661197
|
|
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)
|
rs876661197
|
|
NM_000179.3(MSH6):c.2491C>A (p.Pro831Thr)
|
rs267608053
|
|
NM_000179.3(MSH6):c.2491C>G (p.Pro831Ala)
|
rs267608053
|
|
NM_000179.3(MSH6):c.2491C>T (p.Pro831Ser)
|
rs267608053
|
|
NM_000179.3(MSH6):c.2492C>A (p.Pro831His)
|
rs1558665602
|
|
NM_000179.3(MSH6):c.2492C>G (p.Pro831Arg)
|
|
|
NM_000179.3(MSH6):c.2492C>T (p.Pro831Leu)
|
rs1558665602
|
|
NM_000179.3(MSH6):c.2494C>G (p.Leu832Val)
|
rs1057521330
|
|
NM_000179.3(MSH6):c.2495T>C (p.Leu832Pro)
|
rs1396036269
|
|
NM_000179.3(MSH6):c.2497A>C (p.Lys833Gln)
|
rs1669470783
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
NM_000179.3(MSH6):c.2502T>A (p.Ser834Arg)
|
rs1669471280
|
|
NM_000179.3(MSH6):c.2502T>G (p.Ser834Arg)
|
|
|
NM_000179.3(MSH6):c.2505G>C (p.Gln835His)
|
rs863224328
|
|
NM_000179.3(MSH6):c.2508C>G (p.Asn836Lys)
|
|
|
NM_000179.3(MSH6):c.2509C>A (p.His837Asn)
|
rs777593472
|
|
NM_000179.3(MSH6):c.2509C>G (p.His837Asp)
|
|
|
NM_000179.3(MSH6):c.250G>A (p.Ala84Thr)
|
rs1553408435
|
|
NM_000179.3(MSH6):c.250G>C (p.Ala84Pro)
|
rs1553408435
|
|
NM_000179.3(MSH6):c.2510A>C (p.His837Pro)
|
rs1669472143
|
|
NM_000179.3(MSH6):c.2512C>G (p.Pro838Ala)
|
|
|
NM_000179.3(MSH6):c.2512C>T (p.Pro838Ser)
|
|
|
NM_000179.3(MSH6):c.2513C>T (p.Pro838Leu)
|
rs770952730
|
|
NM_000179.3(MSH6):c.2515G>A (p.Asp839Asn)
|
rs1553413868
|
|
NM_000179.3(MSH6):c.2516A>T (p.Asp839Val)
|
|
|
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg)
|
rs863224624
|
|
NM_000179.3(MSH6):c.251C>A (p.Ala84Asp)
|
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
NM_000179.3(MSH6):c.2520C>G (p.Ser840Arg)
|
rs781241667
|
|
NM_000179.3(MSH6):c.2521A>G (p.Arg841Gly)
|
rs1669474025
|
|
NM_000179.3(MSH6):c.2524G>A (p.Ala842Thr)
|
rs746143003
|
|
NM_000179.3(MSH6):c.2524G>T (p.Ala842Ser)
|
|
|
NM_000179.3(MSH6):c.2525C>G (p.Ala842Gly)
|
rs876660180
|
|
NM_000179.3(MSH6):c.2525C>T (p.Ala842Val)
|
rs876660180
|
|
NM_000179.3(MSH6):c.2529A>G (p.Ile843Met)
|
rs1553413880
|
|
NM_000179.3(MSH6):c.2532G>A (p.Met844Ile)
|
rs786201873
|
|
NM_000179.3(MSH6):c.2533T>C (p.Tyr845His)
|
|
|
NM_000179.3(MSH6):c.2534A>C (p.Tyr845Ser)
|
rs1064794190
|
|
NM_000179.3(MSH6):c.2534A>G (p.Tyr845Cys)
|
rs1064794190
|
|
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)
|
rs779664343
|
|
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp)
|
rs1553413887
|
|
NM_000179.3(MSH6):c.2543C>A (p.Thr848Asn)
|
|
|
NM_000179.3(MSH6):c.2545A>G (p.Thr849Ala)
|
rs1558665776
|
|
NM_000179.3(MSH6):c.2548T>C (p.Tyr850His)
|
rs1558665790
|
|
NM_000179.3(MSH6):c.254C>T (p.Pro85Leu)
|
rs1060502945
|
|
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)
|
rs1553408448
|
|
NM_000179.3(MSH6):c.2553C>A (p.Ser851Arg)
|
|
|
NM_000179.3(MSH6):c.2555A>C (p.Lys852Thr)
|
rs1114167796
|
|
NM_000179.3(MSH6):c.2555A>G (p.Lys852Arg)
|
rs1114167796
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.2558A>G (p.Lys853Arg)
|
|
|
NM_000179.3(MSH6):c.2560A>G (p.Lys854Glu)
|
rs2104412640
|
|
NM_000179.3(MSH6):c.2562G>C (p.Lys854Asn)
|
rs759048538
|
|
NM_000179.3(MSH6):c.2565T>G (p.Ile855Met)
|
rs1064793456
|
|
NM_000179.3(MSH6):c.2566A>T (p.Ile856Phe)
|
rs765012437
|
|
NM_000179.3(MSH6):c.2567T>C (p.Ile856Thr)
|
rs1064794084
|
|
NM_000179.3(MSH6):c.256A>T (p.Thr86Ser)
|
rs1553408451
|
|
NM_000179.3(MSH6):c.2570A>C (p.Asp857Ala)
|
rs758176077
|
|
NM_000179.3(MSH6):c.2570A>G (p.Asp857Gly)
|
rs758176077
|
|
NM_000179.3(MSH6):c.2572T>G (p.Phe858Val)
|
rs2104413316
|
|
NM_000179.3(MSH6):c.2575C>A (p.Leu859Ile)
|
|
|
NM_000179.3(MSH6):c.2575C>G (p.Leu859Val)
|
rs1553413924
|
|
NM_000179.3(MSH6):c.2575C>T (p.Leu859Phe)
|
rs1553413924
|
|
NM_000179.3(MSH6):c.2579C>G (p.Ser860Cys)
|
rs370412074
|
|
NM_000179.3(MSH6):c.257C>G (p.Thr86Ser)
|
rs768444916
|
|
NM_000179.3(MSH6):c.2581G>C (p.Ala861Pro)
|
rs1669484357
|
|
NM_000179.3(MSH6):c.2582C>G (p.Ala861Gly)
|
rs1553413929
|
|
NM_000179.3(MSH6):c.2582C>T (p.Ala861Val)
|
rs1553413929
|
|
NM_000179.3(MSH6):c.2585T>C (p.Leu862Pro)
|
rs1553413932
|
|
NM_000179.3(MSH6):c.2587G>A (p.Glu863Lys)
|
|
|
NM_000179.3(MSH6):c.258C>T (p.Thr86=)
|
|
|
NM_000179.3(MSH6):c.2590G>A (p.Gly864Arg)
|
rs1669485106
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
NM_000179.3(MSH6):c.2591G>C (p.Gly864Ala)
|
rs587781306
|
|
NM_000179.3(MSH6):c.2593T>C (p.Phe865Leu)
|
rs1558665927
|
|
NM_000179.3(MSH6):c.2593T>G (p.Phe865Val)
|
rs1558665927
|
|
NM_000179.3(MSH6):c.2594T>C (p.Phe865Ser)
|
rs1669485434
|
|
NM_000179.3(MSH6):c.2595C>G (p.Phe865Leu)
|
rs757202837
|
|
NM_000179.3(MSH6):c.2596A>G (p.Lys866Glu)
|
rs1553413941
|
|
NM_000179.3(MSH6):c.2597A>G (p.Lys866Arg)
|
rs190075874
|
|
NM_000179.3(MSH6):c.2597A>T (p.Lys866Ile)
|
rs190075874
|
|
NM_000179.3(MSH6):c.2598A>C (p.Lys866Asn)
|
rs1572727770
|
|
NM_000179.3(MSH6):c.2599G>C (p.Val867Leu)
|
rs745954217
|
|
NM_000179.3(MSH6):c.259A>C (p.Ser87Arg)
|
rs1064793939
|
|
NM_000179.3(MSH6):c.259A>T (p.Ser87Cys)
|
rs1064793939
|
|
NM_000179.3(MSH6):c.260+3A>C
|
rs1553408474
|
|
NM_000179.3(MSH6):c.260+3A>G
|
rs1553408474
|
|
NM_000179.3(MSH6):c.260+6G>A
|
|
|
NM_000179.3(MSH6):c.260+6G>T
|
rs1668139912
|
|
NM_000179.3(MSH6):c.2602A>G (p.Met868Val)
|
rs1669486642
|
|
NM_000179.3(MSH6):c.2602A>T (p.Met868Leu)
|
rs1669486642
|
|
NM_000179.3(MSH6):c.2605T>C (p.Cys869Arg)
|
rs768941857
|
|
NM_000179.3(MSH6):c.2609A>C (p.Lys870Thr)
|
|
|
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)
|
rs1114167734
|
|
NM_000179.3(MSH6):c.261-3C>T
|
|
|
NM_000179.3(MSH6):c.261-6C>G
|
rs1558651835
|
|
NM_000179.3(MSH6):c.2611A>G (p.Ile871Val)
|
rs1572727849
|
|
NM_000179.3(MSH6):c.2611A>T (p.Ile871Phe)
|
rs1572727849
|
|
NM_000179.3(MSH6):c.2615T>A (p.Ile872Lys)
|
rs1064793342
|
|
NM_000179.3(MSH6):c.2616A>G (p.Ile872Met)
|
rs2104415318
|
|
NM_000179.3(MSH6):c.2617G>C (p.Gly873Arg)
|
rs1669488739
|
|
NM_000179.3(MSH6):c.2619G>T (p.Gly873=)
|
rs1315876988
|
|
NM_000179.3(MSH6):c.2624T>A (p.Met875Lys)
|
|
|
NM_000179.3(MSH6):c.2628A>T (p.Glu876Asp)
|
|
|
NM_000179.3(MSH6):c.262T>A (p.Cys88Ser)
|
rs1572708527
|
|
NM_000179.3(MSH6):c.2630A>C (p.Glu877Ala)
|
rs1060502873
|
|
NM_000179.3(MSH6):c.2632G>A (p.Val878Ile)
|
|
|
NM_000179.3(MSH6):c.2632G>C (p.Val878Leu)
|
rs1669490068
|
|
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)
|
rs2020912
|
|
NM_000179.3(MSH6):c.2636C>A (p.Ala879Asp)
|
rs1558666061
|
|
NM_000179.3(MSH6):c.2636C>T (p.Ala879Val)
|
|
|
NM_000179.3(MSH6):c.2638G>C (p.Asp880His)
|
|
|
NM_000179.3(MSH6):c.263G>C (p.Cys88Ser)
|
|
|
NM_000179.3(MSH6):c.2641delinsAAA (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer)
|
rs63751408
|
|
NM_000179.3(MSH6):c.2642G>A (p.Gly881Asp)
|
|
|
NM_000179.3(MSH6):c.2642G>T (p.Gly881Val)
|
rs1669491241
|
|
NM_000179.3(MSH6):c.2648A>G (p.Lys883Arg)
|
|
|
NM_000179.3(MSH6):c.2651C>T (p.Ser884Phe)
|
rs561217424
|
|
NM_000179.3(MSH6):c.2653A>C (p.Lys885Gln)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2655A>C (p.Lys885Asn)
|
rs1553413977
|
|
NM_000179.3(MSH6):c.2656A>G (p.Ile886Val)
|
rs2020914
|
|
NM_000179.3(MSH6):c.2656A>T (p.Ile886Phe)
|
|
|
NM_000179.3(MSH6):c.2657T>C (p.Ile886Thr)
|
rs2104417479
|
|
NM_000179.3(MSH6):c.2659C>T (p.Leu887Phe)
|
rs1423320900
|
|
NM_000179.3(MSH6):c.265G>A (p.Asp89Asn)
|
rs1668683890
|
|
NM_000179.3(MSH6):c.2660T>C (p.Leu887Pro)
|
rs1558666142
|
|
NM_000179.3(MSH6):c.2660T>G (p.Leu887Arg)
|
rs1558666142
|
|
NM_000179.3(MSH6):c.2660_2662dup (p.Leu887_Lys888insIle)
|
rs876659363
|
|
NM_000179.3(MSH6):c.2663A>T (p.Lys888Met)
|
|
|
NM_000179.3(MSH6):c.2668G>C (p.Val890Leu)
|
rs786202628
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
NM_000179.3(MSH6):c.2669T>A (p.Val890Asp)
|
rs1114167741
|
|
NM_000179.3(MSH6):c.266A>G (p.Asp89Gly)
|
rs1311655109
|
|
NM_000179.3(MSH6):c.2670C>A (p.Val890=)
|
rs863224625
|
|
NM_000179.3(MSH6):c.2674T>C (p.Ser892Pro)
|
|
|
NM_000179.3(MSH6):c.2674T>G (p.Ser892Ala)
|
rs1572728123
|
|
NM_000179.3(MSH6):c.2675C>A (p.Ser892Tyr)
|
|
|
NM_000179.3(MSH6):c.2675C>G (p.Ser892Cys)
|
rs1669495972
|
|
NM_000179.3(MSH6):c.2677C>A (p.Leu893Met)
|
rs370754319
|
|
NM_000179.3(MSH6):c.2681A>C (p.Gln894Pro)
|
rs1669496676
|
|
NM_000179.3(MSH6):c.2681A>G (p.Gln894Arg)
|
|
|
NM_000179.3(MSH6):c.2681A>T (p.Gln894Leu)
|
|
|
NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)
|
rs780081278
|
|
NM_000179.3(MSH6):c.2686A>G (p.Lys896Glu)
|
rs1553414015
|
|
NM_000179.3(MSH6):c.2687A>G (p.Lys896Arg)
|
|
|
NM_000179.3(MSH6):c.2689A>G (p.Asn897Asp)
|
|
|
NM_000179.3(MSH6):c.2689A>T (p.Asn897Tyr)
|
rs1064794771
|
|
NM_000179.3(MSH6):c.2692C>A (p.Pro898Thr)
|
rs1114167700
|
|
NM_000179.3(MSH6):c.2695G>C (p.Glu899Gln)
|
|
|
NM_000179.3(MSH6):c.2698G>C (p.Gly900Arg)
|
rs2104419723
|
|
NM_000179.3(MSH6):c.2699G>A (p.Gly900Asp)
|
rs2104419774
|
|
NM_000179.3(MSH6):c.26G>A (p.Ser9Asn)
|
rs1572697767
|
|
NM_000179.3(MSH6):c.2701C>G (p.Arg901Gly)
|
rs772514245
|
|
NM_000179.3(MSH6):c.2702G>C (p.Arg901Pro)
|
|
|
NM_000179.3(MSH6):c.2704T>C (p.Phe902Leu)
|
rs1669499938
|
|
NM_000179.3(MSH6):c.2705T>A (p.Phe902Tyr)
|
rs1553414039
|
|
NM_000179.3(MSH6):c.2706T>G (p.Phe902Leu)
|
|
|
NM_000179.3(MSH6):c.2707C>A (p.Pro903Thr)
|
|
|
NM_000179.3(MSH6):c.2708C>G (p.Pro903Arg)
|
|
|
NM_000179.3(MSH6):c.2708C>T (p.Pro903Leu)
|
rs1060502919
|
|
NM_000179.3(MSH6):c.270C>G (p.Phe90Leu)
|
rs2104098775
|
|
NM_000179.3(MSH6):c.2710G>A (p.Asp904Asn)
|
rs1379402512
|
|
NM_000179.3(MSH6):c.2711A>G (p.Asp904Gly)
|
rs1553414049
|
|
NM_000179.3(MSH6):c.2712T>G (p.Asp904Glu)
|
rs374401174
|
|
NM_000179.3(MSH6):c.2714T>G (p.Leu905Trp)
|
|
|
NM_000179.3(MSH6):c.2716A>T (p.Thr906Ser)
|
|
|
NM_000179.3(MSH6):c.2719G>A (p.Val907Ile)
|
rs1558666445
|
|
NM_000179.3(MSH6):c.2722G>A (p.Glu908Lys)
|
rs886056144
|
|
NM_000179.3(MSH6):c.2722G>C (p.Glu908Gln)
|
|
|
NM_000179.3(MSH6):c.2726T>C (p.Leu909Ser)
|
rs969521586
|
|
NM_000179.3(MSH6):c.2728A>C (p.Asn910His)
|
|
|
NM_000179.3(MSH6):c.2728A>G (p.Asn910Asp)
|
rs2104421171
|
|
NM_000179.3(MSH6):c.2729A>C (p.Asn910Thr)
|
rs1669503562
|
|
NM_000179.3(MSH6):c.272C>T (p.Ser91Leu)
|
rs864622559
|
|
NM_000179.3(MSH6):c.2730C>G (p.Asn910Lys)
|
rs773837927
|
|
NM_000179.3(MSH6):c.2731C>G (p.Arg911Gly)
|
|
|
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)
|
rs761622304
|
|
NM_000179.3(MSH6):c.2732G>C (p.Arg911Pro)
|
rs761622304
|
|
NM_000179.3(MSH6):c.2732G>T (p.Arg911Leu)
|
rs761622304
|
|
NM_000179.3(MSH6):c.2733A>G (p.Arg911=)
|
rs1553414083
|
|
NM_000179.3(MSH6):c.2734T>A (p.Trp912Arg)
|
rs1060502869
|
|
NM_000179.3(MSH6):c.2734T>C (p.Trp912Arg)
|
rs1060502869
|
|
NM_000179.3(MSH6):c.2736G>C (p.Trp912Cys)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2736G>T (p.Trp912Cys)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738A>G (p.Asp913Gly)
|
rs750404946
|
|
NM_000179.3(MSH6):c.2740A>G (p.Thr914Ala)
|
rs2104421790
|
|
NM_000179.3(MSH6):c.2741C>A (p.Thr914Lys)
|
rs1553414094
|
|
NM_000179.3(MSH6):c.2741C>G (p.Thr914Arg)
|
|
|
NM_000179.3(MSH6):c.2743G>A (p.Ala915Thr)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2743G>T (p.Ala915Ser)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)
|
rs766427609
|
|
NM_000179.3(MSH6):c.2744C>T (p.Ala915Val)
|
rs766427609
|
|
NM_000179.3(MSH6):c.2749G>C (p.Asp917His)
|
rs2104422257
|
|
NM_000179.3(MSH6):c.274C>T (p.Pro92Ser)
|
rs2104099000
|
|
NM_000179.3(MSH6):c.2750A>C (p.Asp917Ala)
|
rs1669506919
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
NM_000179.3(MSH6):c.2755G>A (p.Glu919Lys)
|
rs1553414110
|
|
NM_000179.3(MSH6):c.2756A>G (p.Glu919Gly)
|
rs1669507683
|
|
NM_000179.3(MSH6):c.2758A>G (p.Lys920Glu)
|
|
|
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu)
|
rs1257646433
|
|
NM_000179.3(MSH6):c.275_276inv (p.Pro92Leu)
|
|
|
NM_000179.3(MSH6):c.2760G>C (p.Lys920Asn)
|
rs1553414113
|
|
NM_000179.3(MSH6):c.2764C>G (p.Arg922Gly)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2765G>C (p.Arg922Pro)
|
|
|
NM_000179.3(MSH6):c.2767A>G (p.Lys923Glu)
|
rs1558666660
|
|
NM_000179.3(MSH6):c.2768A>G (p.Lys923Arg)
|
rs1553414124
|
|
NM_000179.3(MSH6):c.2771C>G (p.Thr924Ser)
|
rs1553414130
|
|
NM_000179.3(MSH6):c.2771C>T (p.Thr924Ile)
|
rs1553414130
|
|
NM_000179.3(MSH6):c.2776C>G (p.Leu926Val)
|
rs587781318
|
|
NM_000179.3(MSH6):c.2777T>C (p.Leu926Pro)
|
rs1060502948
|
|
NM_000179.3(MSH6):c.2777T>G (p.Leu926Arg)
|
rs1060502948
|
|
NM_000179.3(MSH6):c.2779A>T (p.Ile927Phe)
|
rs2104423709
|
|
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala)
|
rs1057519255
|
|
NM_000179.3(MSH6):c.2785C>A (p.Pro929Thr)
|
rs1553414139
|
|
NM_000179.3(MSH6):c.2785C>G (p.Pro929Ala)
|
rs1553414139
|
|
NM_000179.3(MSH6):c.2788A>C (p.Lys930Gln)
|
rs878853719
|
|
NM_000179.3(MSH6):c.2788A>G (p.Lys930Glu)
|
rs878853719
|
|
NM_000179.3(MSH6):c.2789A>G (p.Lys930Arg)
|
rs878853720
|
|
NM_000179.3(MSH6):c.2790A>T (p.Lys930Asn)
|
rs1572728711
|
|
NM_000179.3(MSH6):c.2792C>G (p.Ala931Gly)
|
|
|
NM_000179.3(MSH6):c.2794G>A (p.Gly932Ser)
|
|
|
NM_000179.3(MSH6):c.2795G>T (p.Gly932Val)
|
rs786203914
|
|
NM_000179.3(MSH6):c.2797T>C (p.Phe933Leu)
|
rs1553414155
|
|
NM_000179.3(MSH6):c.27C>A (p.Ser9Arg)
|
rs1572697773
|
|
NM_000179.3(MSH6):c.2800G>C (p.Asp934His)
|
rs2104424683
|
|
NM_000179.3(MSH6):c.2802C>G (p.Asp934Glu)
|
rs1669512732
|
|
NM_000179.3(MSH6):c.2803T>C (p.Ser935Pro)
|
rs1669512980
|
|
NM_000179.3(MSH6):c.2804C>T (p.Ser935Phe)
|
rs1553414162
|
|
NM_000179.3(MSH6):c.2806G>A (p.Asp936Asn)
|
rs876659904
|
|
NM_000179.3(MSH6):c.2806G>C (p.Asp936His)
|
rs876659904
|
|
NM_000179.3(MSH6):c.2808T>A (p.Asp936Glu)
|
rs771925410
|
|
NM_000179.3(MSH6):c.2809T>C (p.Tyr937His)
|
|
|
NM_000179.3(MSH6):c.280G>A (p.Asp94Asn)
|
rs1553410216
|
|
NM_000179.3(MSH6):c.2810A>G (p.Tyr937Cys)
|
rs1572728780
|
|
NM_000179.3(MSH6):c.2812G>C (p.Asp938His)
|
rs1553414175
|
|
NM_000179.3(MSH6):c.2814C>G (p.Asp938Glu)
|
|
|
NM_000179.3(MSH6):c.2815C>G (p.Gln939Glu)
|
|
|
NM_000179.3(MSH6):c.2819C>G (p.Ala940Gly)
|
|
|
NM_000179.3(MSH6):c.2821C>G (p.Leu941Val)
|
rs1114167730
|
|
NM_000179.3(MSH6):c.2821C>T (p.Leu941Phe)
|
|
|
NM_000179.3(MSH6):c.2827G>C (p.Asp943His)
|
rs143520357
|
|
NM_000179.3(MSH6):c.2830A>T (p.Ile944Leu)
|
|
|
NM_000179.3(MSH6):c.2832A>G (p.Ile944Met)
|
|
|
NM_000179.3(MSH6):c.2833_2835del (p.Arg945del)
|
rs1553414199
|
|
NM_000179.3(MSH6):c.2834G>A (p.Arg945Lys)
|
|
|
NM_000179.3(MSH6):c.2837A>G (p.Glu946Gly)
|
rs1669516579
|
|
NM_000179.3(MSH6):c.2837A>T (p.Glu946Val)
|
|
|
NM_000179.3(MSH6):c.2838A>C (p.Glu946Asp)
|
|
|
NM_000179.3(MSH6):c.283T>G (p.Leu95Val)
|
rs786202397
|
|
NM_000179.3(MSH6):c.2844A>T (p.Glu948Asp)
|
rs1558666921
|
|
NM_000179.3(MSH6):c.2847G>C (p.Gln949His)
|
|
|
NM_000179.3(MSH6):c.2849G>A (p.Ser950Asn)
|
rs1669517990
|
|
NM_000179.3(MSH6):c.284T>G (p.Leu95Trp)
|
rs1668685873
|
|
NM_000179.3(MSH6):c.2857G>C (p.Glu953Gln)
|
rs753034685
|
|
NM_000179.3(MSH6):c.2859A>C (p.Glu953Asp)
|
rs1669520175
|
|
NM_000179.3(MSH6):c.2860T>C (p.Tyr954His)
|
rs1669520283
|
|
NM_000179.3(MSH6):c.2866G>A (p.Glu956Lys)
|
rs935578138
|
|
NM_000179.3(MSH6):c.2866G>C (p.Glu956Gln)
|
rs935578138
|
|
NM_000179.3(MSH6):c.2869A>G (p.Lys957Glu)
|
rs876661255
|
|
NM_000179.3(MSH6):c.286G>C (p.Val96Leu)
|
|
|
NM_000179.3(MSH6):c.286G>T (p.Val96Phe)
|
rs984265203
|
|
NM_000179.3(MSH6):c.2871A>T (p.Lys957Asn)
|
rs778079788
|
|
NM_000179.3(MSH6):c.2872C>G (p.Gln958Glu)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2873A>T (p.Gln958Leu)
|
|
|
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis)
|
rs1572729044
|
|
NM_000179.3(MSH6):c.2875C>A (p.Arg959Ser)
|
rs751973865
|
|
NM_000179.3(MSH6):c.2876G>C (p.Arg959Pro)
|
rs757653982
|
|
NM_000179.3(MSH6):c.2878A>C (p.Asn960His)
|
|
|
NM_000179.3(MSH6):c.2878A>G (p.Asn960Asp)
|
rs2104428431
|
|
NM_000179.3(MSH6):c.2879A>C (p.Asn960Thr)
|
|
|
NM_000179.3(MSH6):c.2882G>T (p.Arg961Ile)
|
rs587781458
|
|
NM_000179.3(MSH6):c.2887G>A (p.Gly963Ser)
|
rs2104428845
|
|
NM_000179.3(MSH6):c.2887G>T (p.Gly963Cys)
|
|
|
NM_000179.3(MSH6):c.2890T>C (p.Cys964Arg)
|
rs1669523927
|
|
NM_000179.3(MSH6):c.2891G>A (p.Cys964Tyr)
|
rs2104429020
|
|
NM_000179.3(MSH6):c.2893A>G (p.Arg965Gly)
|
rs1669524222
|
|
NM_000179.3(MSH6):c.2893A>T (p.Arg965Trp)
|
|
|
NM_000179.3(MSH6):c.2894G>C (p.Arg965Thr)
|
rs1553414252
|
|
NM_000179.3(MSH6):c.2895G>C (p.Arg965Ser)
|
rs1558667093
|
|
NM_000179.3(MSH6):c.2895G>T (p.Arg965Ser)
|
|
|
NM_000179.3(MSH6):c.2896A>G (p.Thr966Ala)
|
rs1669524537
|
|
NM_000179.3(MSH6):c.2897C>T (p.Thr966Ile)
|
rs1183568138
|
|
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)
|
rs876661067
|
|
NM_000179.3(MSH6):c.2900T>C (p.Ile967Thr)
|
|
|
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)
|
rs1348956744
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
NM_000179.3(MSH6):c.290G>C (p.Trp97Ser)
|
rs752680756
|
|
NM_000179.3(MSH6):c.2911_2913del (p.Gly971del)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2913G>T (p.Gly971=)
|
rs1572729232
|
|
NM_000179.3(MSH6):c.2915T>C (p.Ile972Thr)
|
|
|
NM_000179.3(MSH6):c.2918G>C (p.Gly973Ala)
|
rs1558667196
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
NM_000179.3(MSH6):c.291G>C (p.Trp97Cys)
|
rs1572708589
|
|
NM_000179.3(MSH6):c.2922G>C (p.Arg974Ser)
|
|
|
NM_000179.3(MSH6):c.2923A>C (p.Asn975His)
|
rs1553414294
|
|
NM_000179.3(MSH6):c.2929T>G (p.Tyr977Asp)
|
rs1669528965
|
|
NM_000179.3(MSH6):c.292G>T (p.Ala98Ser)
|
rs878853725
|
|
NM_000179.3(MSH6):c.2932C>G (p.Gln978Glu)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2934G>C (p.Gln978His)
|
rs751780309
|
|
NM_000179.3(MSH6):c.2936T>C (p.Leu979Pro)
|
rs1218426245
|
|
NM_000179.3(MSH6):c.2938G>C (p.Glu980Gln)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.293C>T (p.Ala98Val)
|
|
|
NM_000179.3(MSH6):c.2941A>G (p.Ile981Val)
|
rs730881799
|
|
NM_000179.3(MSH6):c.2942T>C (p.Ile981Thr)
|
rs1669530348
|
|
NM_000179.3(MSH6):c.2944C>G (p.Pro982Ala)
|
rs1553414320
|
|
NM_000179.3(MSH6):c.2945C>A (p.Pro982His)
|
rs2104432331
|
|
NM_000179.3(MSH6):c.2947G>A (p.Glu983Lys)
|
rs538761360
|
|
NM_000179.3(MSH6):c.2949G>T (p.Glu983Asp)
|
rs780485157
|
|
NM_000179.3(MSH6):c.2950A>G (p.Asn984Asp)
|
rs146359682
|
|
NM_000179.3(MSH6):c.2950A>T (p.Asn984Tyr)
|
rs146359682
|
|
NM_000179.3(MSH6):c.2951A>T (p.Asn984Ile)
|
rs587779927
|
|
NM_000179.3(MSH6):c.2954T>G (p.Phe985Cys)
|
rs1572729394
|
|
NM_000179.3(MSH6):c.2955C>G (p.Phe985Leu)
|
rs63750942
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
|
NM_000179.3(MSH6):c.2957C>A (p.Thr986Asn)
|
|
|
NM_000179.3(MSH6):c.2957C>G (p.Thr986Ser)
|
rs1558667371
|
|
NM_000179.3(MSH6):c.2959A>C (p.Thr987Pro)
|
rs746631156
|
|
NM_000179.3(MSH6):c.2960C>G (p.Thr987Ser)
|
rs587779928
|
|
NM_000179.3(MSH6):c.2962C>A (p.Arg988Ser)
|
rs61753795
|
|
NM_000179.3(MSH6):c.2962C>G (p.Arg988Gly)
|
rs61753795
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
NM_000179.3(MSH6):c.2965A>C (p.Asn989His)
|
rs1669533426
|
|
NM_000179.3(MSH6):c.2965A>T (p.Asn989Tyr)
|
rs1669533426
|
|
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile)
|
rs763146296
|
|
NM_000179.3(MSH6):c.2968T>A (p.Leu990Met)
|
|
|
NM_000179.3(MSH6):c.2970G>C (p.Leu990Phe)
|
rs1553414353
|
|
NM_000179.3(MSH6):c.2971C>T (p.Pro991Ser)
|
rs764249869
|
|
NM_000179.3(MSH6):c.2974GAA[1] (p.Glu993del)
|
|
|
NM_000179.3(MSH6):c.2976A>C (p.Glu992Asp)
|
rs761938225
|
|
NM_000179.3(MSH6):c.2977G>A (p.Glu993Lys)
|
|
|
NM_000179.3(MSH6):c.2979A>T (p.Glu993Asp)
|
rs370462886
|
|
NM_000179.3(MSH6):c.2980T>G (p.Tyr994Asp)
|
rs373622047
|
|
NM_000179.3(MSH6):c.2983G>A (p.Glu995Lys)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2983G>C (p.Glu995Gln)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2989A>G (p.Lys997Glu)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2990A>G (p.Lys997Arg)
|
rs587780674
|
|
NM_000179.3(MSH6):c.2992T>C (p.Ser998Pro)
|
rs730881800
|
|
NM_000179.3(MSH6):c.2993C>G (p.Ser998Cys)
|
rs1281207200
|
|
NM_000179.3(MSH6):c.2993C>T (p.Ser998Phe)
|
rs1281207200
|
|
NM_000179.3(MSH6):c.2996C>T (p.Thr999Ile)
|
|
|
NM_000179.3(MSH6):c.299T>C (p.Met100Thr)
|
|
|
NM_000179.3(MSH6):c.3002A>G (p.Lys1001Arg)
|
rs876659485
|
|
NM_000179.3(MSH6):c.3003G>C (p.Lys1001Asn)
|
rs1669537777
|
|
NM_000179.3(MSH6):c.3004G>A (p.Gly1002Ser)
|
rs587782491
|
|
NM_000179.3(MSH6):c.3005G>A (p.Gly1002Asp)
|
rs1064794070
|
|
NM_000179.3(MSH6):c.3005G>T (p.Gly1002Val)
|
rs1064794070
|
|
NM_000179.3(MSH6):c.3007T>C (p.Cys1003Arg)
|
|
|
NM_000179.3(MSH6):c.3008G>C (p.Cys1003Ser)
|
|
|
NM_000179.3(MSH6):c.3008G>T (p.Cys1003Phe)
|
rs1558667696
|
|
NM_000179.3(MSH6):c.300G>A (p.Met100Ile)
|
rs1572708607
|
|
NM_000179.3(MSH6):c.3010A>G (p.Lys1004Glu)
|
rs1558667702
|
|
NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)
|
rs587782324
|
|
NM_000179.3(MSH6):c.3016T>C (p.Tyr1006His)
|
|
|
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg)
|
rs1553414398
|
|
NM_000179.3(MSH6):c.3019T>G (p.Trp1007Gly)
|
rs1553414398
|
|
NM_000179.3(MSH6):c.301G>A (p.Glu101Lys)
|
|
|
NM_000179.3(MSH6):c.3022A>C (p.Thr1008Pro)
|
|
|
NM_000179.3(MSH6):c.3022A>T (p.Thr1008Ser)
|
|
|
NM_000179.3(MSH6):c.3023C>A (p.Thr1008Asn)
|
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
NM_000179.3(MSH6):c.3026A>G (p.Lys1009Arg)
|
rs587781593
|
|
NM_000179.3(MSH6):c.3028A>T (p.Thr1010Ser)
|
rs1553414407
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)
|
rs768925694
|
|
NM_000179.3(MSH6):c.3031A>G (p.Ile1011Val)
|
rs1553414415
|
|
NM_000179.3(MSH6):c.3032T>C (p.Ile1011Thr)
|
rs1387534158
|
|
NM_000179.3(MSH6):c.3033T>G (p.Ile1011Met)
|
rs1572729809
|
|
NM_000179.3(MSH6):c.3035A>T (p.Glu1012Val)
|
rs2104437159
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3038A>C (p.Lys1013Thr)
|
rs200837944
|
|
NM_000179.3(MSH6):c.3038A>G (p.Lys1013Arg)
|
rs200837944
|
|
NM_000179.3(MSH6):c.3039G>T (p.Lys1013Asn)
|
rs1060502920
|
|
NM_000179.3(MSH6):c.3043T>G (p.Leu1015Val)
|
rs1572729847
|
|
NM_000179.3(MSH6):c.3047C>T (p.Ala1016Val)
|
rs587779929
|
|
NM_000179.3(MSH6):c.3049A>C (p.Asn1017His)
|
rs1060502943
|
|
NM_000179.3(MSH6):c.3049A>T (p.Asn1017Tyr)
|
rs1060502943
|
|
NM_000179.3(MSH6):c.3050A>G (p.Asn1017Ser)
|
|
|
NM_000179.3(MSH6):c.3052C>A (p.Leu1018Ile)
|
rs878853727
|
|
NM_000179.3(MSH6):c.3052C>G (p.Leu1018Val)
|
rs878853727
|
|
NM_000179.3(MSH6):c.3056T>C (p.Ile1019Thr)
|
|
|
NM_000179.3(MSH6):c.3058A>C (p.Asn1020His)
|
rs1553414438
|
|
NM_000179.3(MSH6):c.3058A>G (p.Asn1020Asp)
|
rs1553414438
|
|
NM_000179.3(MSH6):c.3059A>G (p.Asn1020Ser)
|
rs1669544206
|
|
NM_000179.3(MSH6):c.305G>T (p.Gly102Val)
|
|
|
NM_000179.3(MSH6):c.3061G>A (p.Ala1021Thr)
|
rs2104438316
|
|
NM_000179.3(MSH6):c.3065A>C (p.Glu1022Ala)
|
|
|
NM_000179.3(MSH6):c.3067G>C (p.Glu1023Gln)
|
|
|
NM_000179.3(MSH6):c.3068A>C (p.Glu1023Ala)
|
rs1553414454
|
|
NM_000179.3(MSH6):c.3068A>G (p.Glu1023Gly)
|
rs1553414454
|
|
NM_000179.3(MSH6):c.3070C>G (p.Arg1024Gly)
|
rs370505117
|
|
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)
|
rs370505117
|
|
NM_000179.3(MSH6):c.3071G>C (p.Arg1024Pro)
|
rs372705506
|
|
NM_000179.3(MSH6):c.3076G>T (p.Asp1026Tyr)
|
rs267608054
|
|
NM_000179.3(MSH6):c.3079G>A (p.Val1027Ile)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3080T>C (p.Val1027Ala)
|
rs1553414471
|
|
NM_000179.3(MSH6):c.3080T>G (p.Val1027Gly)
|
rs1553414471
|
|
NM_000179.3(MSH6):c.3082T>C (p.Ser1028Pro)
|
rs1572730033
|
|
NM_000179.3(MSH6):c.3083C>T (p.Ser1028Leu)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3086T>G (p.Leu1029Trp)
|
rs1553414483
|
|
NM_000179.3(MSH6):c.3091G>C (p.Asp1031His)
|
|
|
NM_000179.3(MSH6):c.3093C>G (p.Asp1031Glu)
|
|
|
NM_000179.3(MSH6):c.3094T>A (p.Cys1032Ser)
|
rs1572730085
|
|
NM_000179.3(MSH6):c.3097A>G (p.Met1033Val)
|
rs1553414508
|
|
NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys)
|
rs751035257
|
|
NM_000179.3(MSH6):c.3098T>C (p.Met1033Thr)
|
rs751035257
|
|
NM_000179.3(MSH6):c.30C>A (p.Phe10Leu)
|
rs786201869
|
|
NM_000179.3(MSH6):c.3100C>G (p.Arg1034Gly)
|
rs587779930
|
|
NM_000179.3(MSH6):c.3101G>C (p.Arg1034Pro)
|
rs181727939
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3104G>C (p.Arg1035Pro)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3106C>G (p.Leu1036Val)
|
rs1558668117
|
|
NM_000179.3(MSH6):c.3109T>C (p.Phe1037Leu)
|
rs1669550051
|
|
NM_000179.3(MSH6):c.310C>T (p.Pro104Ser)
|
rs1558651940
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
NM_000179.3(MSH6):c.3111_3112delinsGA (p.Phe1037_Tyr1038delinsLeuAsn)
|
rs1572730191
|
|
NM_000179.3(MSH6):c.3112T>G (p.Tyr1038Asp)
|
rs1060502947
|
|
NM_000179.3(MSH6):c.3117C>A (p.Asn1039Lys)
|
|
|
NM_000179.3(MSH6):c.3117C>G (p.Asn1039Lys)
|
rs1553414533
|
|
NM_000179.3(MSH6):c.3119T>A (p.Phe1040Tyr)
|
|
|
NM_000179.3(MSH6):c.3119T>C (p.Phe1040Ser)
|
rs2104441260
|
|
NM_000179.3(MSH6):c.311C>T (p.Pro104Leu)
|
rs1572708628
|
|
NM_000179.3(MSH6):c.3121G>A (p.Asp1041Asn)
|
rs2104441362
|
|
NM_000179.3(MSH6):c.3123T>A (p.Asp1041Glu)
|
rs1669551961
|
|
NM_000179.3(MSH6):c.3125A>C (p.Lys1042Thr)
|
rs2104441513
|
|
NM_000179.3(MSH6):c.3125A>G (p.Lys1042Arg)
|
|
|
NM_000179.3(MSH6):c.3128A>G (p.Asn1043Ser)
|
rs1558668226
|
|
NM_000179.3(MSH6):c.3128A>T (p.Asn1043Ile)
|
rs1558668226
|
|
NM_000179.3(MSH6):c.3130T>C (p.Tyr1044His)
|
|
|
NM_000179.3(MSH6):c.3130T>G (p.Tyr1044Asp)
|
rs1346694568
|
|
NM_000179.3(MSH6):c.3131A>C (p.Tyr1044Ser)
|
rs1553414541
|
|
NM_000179.3(MSH6):c.3131A>G (p.Tyr1044Cys)
|
rs1553414541
|
|
NM_000179.3(MSH6):c.3131A>T (p.Tyr1044Phe)
|
rs1553414541
|
|
NM_000179.3(MSH6):c.3133A>G (p.Lys1045Glu)
|
rs2104441885
|
|
NM_000179.3(MSH6):c.3133_3138del (p.Lys1045_Asp1046del)
|
rs2104441817
|
|
NM_000179.3(MSH6):c.3134A>C (p.Lys1045Thr)
|
rs1669552904
|
|
NM_000179.3(MSH6):c.3136G>A (p.Asp1046Asn)
|
rs2104442043
|
|
NM_000179.3(MSH6):c.3136G>T (p.Asp1046Tyr)
|
rs2104442043
|
|
NM_000179.3(MSH6):c.3137A>G (p.Asp1046Gly)
|
rs587779931
|
|
NM_000179.3(MSH6):c.3138C>G (p.Asp1046Glu)
|
rs1244049824
|
|
NM_000179.3(MSH6):c.3139T>C (p.Trp1047Arg)
|
rs1114167753
|
|
NM_000179.3(MSH6):c.3140G>T (p.Trp1047Leu)
|
rs1064794302
|
|
NM_000179.3(MSH6):c.3141G>C (p.Trp1047Cys)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3143A>G (p.Gln1048Arg)
|
rs1572730351
|
|
NM_000179.3(MSH6):c.3144G>C (p.Gln1048His)
|
|
|
NM_000179.3(MSH6):c.3146C>G (p.Ser1049Cys)
|
rs1395294066
|
|
NM_000179.3(MSH6):c.3146C>T (p.Ser1049Phe)
|
|
|
NM_000179.3(MSH6):c.3148G>A (p.Ala1050Thr)
|
rs1572730375
|
|
NM_000179.3(MSH6):c.3148G>C (p.Ala1050Pro)
|
rs1572730375
|
|
NM_000179.3(MSH6):c.3148G>T (p.Ala1050Ser)
|
rs1572730375
|
|
NM_000179.3(MSH6):c.3149C>T (p.Ala1050Val)
|
rs1114167732
|
|
NM_000179.3(MSH6):c.314G>C (p.Trp105Ser)
|
rs1558651950
|
|
NM_000179.3(MSH6):c.314G>T (p.Trp105Leu)
|
|
|
NM_000179.3(MSH6):c.3150_3161dup (p.Val1051_Ile1054dup)
|
rs1669556009
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3151G>C (p.Val1051Leu)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3154G>A (p.Glu1052Lys)
|
rs765763906
|
|
NM_000179.3(MSH6):c.3154G>C (p.Glu1052Gln)
|
rs765763906
|
|
NM_000179.3(MSH6):c.3155A>C (p.Glu1052Ala)
|
|
|
NM_000179.3(MSH6):c.3157T>C (p.Cys1053Arg)
|
rs2104443174
|
|
NM_000179.3(MSH6):c.3158G>A (p.Cys1053Tyr)
|
rs1553414572
|
|
NM_000179.3(MSH6):c.3158G>C (p.Cys1053Ser)
|
|
|
NM_000179.3(MSH6):c.315G>C (p.Trp105Cys)
|
|
|
NM_000179.3(MSH6):c.315G>T (p.Trp105Cys)
|
rs1060502902
|
|
NM_000179.3(MSH6):c.3161_3163del (p.Ile1054_Ala1055delinsThr)
|
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
NM_000179.3(MSH6):c.3166G>T (p.Val1056Leu)
|
|
|
NM_000179.3(MSH6):c.3170T>G (p.Leu1057Trp)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3172+4A>G
|
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-12_3173-9del
|
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3173-3C>T
|
|
|
NM_000179.3(MSH6):c.3173-3del
|
|
|
NM_000179.3(MSH6):c.3173A>G (p.Asp1058Gly)
|
rs1558386744
|
|
NM_000179.3(MSH6):c.3173A>T (p.Asp1058Val)
|
rs1558386744
|
|
NM_000179.3(MSH6):c.3175G>A (p.Val1059Ile)
|
rs1249506770
|
|
NM_000179.3(MSH6):c.3179T>C (p.Leu1060Ser)
|
|
|
NM_000179.3(MSH6):c.3180A>C (p.Leu1060Phe)
|
rs1553331248
|
|
NM_000179.3(MSH6):c.3182T>C (p.Leu1061Pro)
|
|
|
NM_000179.3(MSH6):c.3182T>G (p.Leu1061Arg)
|
rs1669730426
|
|
NM_000179.3(MSH6):c.3184T>C (p.Cys1062Arg)
|
|
|
NM_000179.3(MSH6):c.318G>T (p.Trp106Cys)
|
rs1572708652
|
|
NM_000179.3(MSH6):c.3190G>A (p.Ala1064Thr)
|
rs587782492
|
|
NM_000179.3(MSH6):c.3190G>C (p.Ala1064Pro)
|
rs587782492
|
|
NM_000179.3(MSH6):c.3194A>G (p.Asn1065Ser)
|
|
|
NM_000179.3(MSH6):c.3195C>G (p.Asn1065Lys)
|
rs759260316
|
|
NM_000179.3(MSH6):c.3199A>G (p.Ser1067Gly)
|
rs1669732743
|
|
NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del)
|
rs1064792972
|
|
NM_000179.3(MSH6):c.319C>G (p.Pro107Ala)
|
|
|
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr)
|
rs730881803
|
|
NM_000179.3(MSH6):c.3200G>T (p.Ser1067Ile)
|
rs730881803
|
|
NM_000179.3(MSH6):c.3202C>G (p.Arg1068Gly)
|
rs63749843
|
|
NM_000179.3(MSH6):c.3203G>C (p.Arg1068Pro)
|
rs398123230
|
|
NM_000179.3(MSH6):c.3203G>T (p.Arg1068Leu)
|
rs398123230
|
|
NM_000179.3(MSH6):c.3205G>A (p.Gly1069Arg)
|
rs764113705
|
|
NM_000179.3(MSH6):c.3206G>C (p.Gly1069Ala)
|
rs63750784
|
|
NM_000179.3(MSH6):c.3209G>T (p.Gly1070Val)
|
rs751475855
|
|
NM_000179.3(MSH6):c.320C>T (p.Pro107Leu)
|
rs878853732
|
|
NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser)
|
rs1558386938
|
|
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)
|
rs781243845
|
|
NM_000179.3(MSH6):c.3217C>A (p.Pro1073Thr)
|
rs142254875
|
|
NM_000179.3(MSH6):c.3220A>C (p.Met1074Leu)
|
rs730881804
|
|
NM_000179.3(MSH6):c.3223T>C (p.Cys1075Arg)
|
|
|
NM_000179.3(MSH6):c.3223T>G (p.Cys1075Gly)
|
rs1553331300
|
|
NM_000179.3(MSH6):c.3224G>A (p.Cys1075Tyr)
|
rs2104474174
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3228_3229insAGC (p.Arg1076_Pro1077insSer)
|
|
|
NM_000179.3(MSH6):c.3229C>A (p.Pro1077Thr)
|
rs1669737200
|
|
NM_000179.3(MSH6):c.3229C>T (p.Pro1077Ser)
|
|
|
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)
|
rs1668689651
|
|
NM_000179.3(MSH6):c.3230C>A (p.Pro1077Gln)
|
rs876659824
|
|
NM_000179.3(MSH6):c.3235A>C (p.Ile1079Leu)
|
rs587779933
|
|
NM_000179.3(MSH6):c.3236T>C (p.Ile1079Thr)
|
rs2104474781
|
|
NM_000179.3(MSH6):c.3238C>A (p.Leu1080Met)
|
rs1553331335
|
|
NM_000179.3(MSH6):c.3239T>C (p.Leu1080Pro)
|
|
|
NM_000179.3(MSH6):c.323G>A (p.Cys108Tyr)
|
rs1572708660
|
|
NM_000179.3(MSH6):c.323G>C (p.Cys108Ser)
|
rs1572708660
|
|
NM_000179.3(MSH6):c.323G>T (p.Cys108Phe)
|
|
|
NM_000179.3(MSH6):c.3243G>C (p.Leu1081Phe)
|
rs1553331352
|
|
NM_000179.3(MSH6):c.3244C>A (p.Pro1082Thr)
|
rs186240214
|
|
NM_000179.3(MSH6):c.3245C>A (p.Pro1082Gln)
|
rs191109849
|
|
NM_000179.3(MSH6):c.3245C>G (p.Pro1082Arg)
|
rs191109849
|
|
NM_000179.3(MSH6):c.3247G>A (p.Glu1083Lys)
|
|
|
NM_000179.3(MSH6):c.3248A>G (p.Glu1083Gly)
|
rs1064796068
|
|
NM_000179.3(MSH6):c.3250G>C (p.Asp1084His)
|
|
|
NM_000179.3(MSH6):c.3250G>T (p.Asp1084Tyr)
|
|
|
NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly)
|
rs1553331364
|
|
NM_000179.3(MSH6):c.3253_3254delinsTA (p.Thr1085Tyr)
|
|
|
NM_000179.3(MSH6):c.3254C>G (p.Thr1085Ser)
|
rs761724581
|
|
NM_000179.3(MSH6):c.3256C>A (p.Pro1086Thr)
|
rs756108143
|
|
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala)
|
rs756108143
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259_3261del (p.Pro1087del)
|
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3261CTT[1] (p.Phe1088del)
|
rs1060502917
|
|
NM_000179.3(MSH6):c.3262T>A (p.Phe1088Ile)
|
|
|
NM_000179.3(MSH6):c.3262T>C (p.Phe1088Leu)
|
rs866793892
|
|
NM_000179.3(MSH6):c.3263T>A (p.Phe1088Tyr)
|
rs775248712
|
|
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3267A>C (p.Leu1089Phe)
|
rs1303047277
|
|
NM_000179.3(MSH6):c.3268G>A (p.Glu1090Lys)
|
rs143477948
|
|
NM_000179.3(MSH6):c.3268G>C (p.Glu1090Gln)
|
rs143477948
|
|
NM_000179.3(MSH6):c.3269A>C (p.Glu1090Ala)
|
rs1669749043
|
|
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)
|
rs876660165
|
|
NM_000179.3(MSH6):c.3271C>T (p.Leu1091Phe)
|
rs1060502914
|
|
NM_000179.3(MSH6):c.3272T>G (p.Leu1091Arg)
|
rs864622637
|
|
NM_000179.3(MSH6):c.3274A>C (p.Lys1092Gln)
|
rs967439058
|
|
NM_000179.3(MSH6):c.3276A>C (p.Lys1092Asn)
|
rs1572735435
|
|
NM_000179.3(MSH6):c.3278G>C (p.Gly1093Ala)
|
rs876661048
|
|
NM_000179.3(MSH6):c.3278G>T (p.Gly1093Val)
|
rs876661048
|
|
NM_000179.3(MSH6):c.327G>A (p.Leu109=)
|
rs1668689995
|
|
NM_000179.3(MSH6):c.3280T>G (p.Ser1094Ala)
|
rs876658945
|
|
NM_000179.3(MSH6):c.3283C>A (p.Arg1095Ser)
|
rs376243329
|
|
NM_000179.3(MSH6):c.3286C>T (p.His1096Tyr)
|
rs1553331471
|
|
NM_000179.3(MSH6):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_000179.3(MSH6):c.328G>A (p.Val110Ile)
|
rs876659374
|
|
NM_000179.3(MSH6):c.3292T>A (p.Cys1098Ser)
|
rs1553331482
|
|
NM_000179.3(MSH6):c.3292T>C (p.Cys1098Arg)
|
|
|
NM_000179.3(MSH6):c.3293G>A (p.Cys1098Tyr)
|
rs876660564
|
|
NM_000179.3(MSH6):c.3293G>C (p.Cys1098Ser)
|
rs876660564
|
|
NM_000179.3(MSH6):c.3293_3294delinsTT (p.Cys1098Phe)
|
rs1572735512
|
|
NM_000179.3(MSH6):c.3295A>G (p.Ile1099Val)
|
rs1064795895
|
|
NM_000179.3(MSH6):c.3296T>C (p.Ile1099Thr)
|
rs1553331494
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.3303G>C (p.Lys1101Asn)
|
|
|
NM_000179.3(MSH6):c.3304A>G (p.Thr1102Ala)
|
rs758782048
|
|
NM_000179.3(MSH6):c.3307T>C (p.Phe1103Leu)
|
rs1553331522
|
|
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val)
|
rs1553331522
|
|
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys)
|
rs1553331529
|
|
NM_000179.3(MSH6):c.3311T>C (p.Phe1104Ser)
|
rs1553331534
|
|
NM_000179.3(MSH6):c.3311T>G (p.Phe1104Cys)
|
|
|
NM_000179.3(MSH6):c.3313G>C (p.Gly1105Arg)
|
|
|
NM_000179.3(MSH6):c.3314G>C (p.Gly1105Ala)
|
rs1060502910
|
|
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val)
|
rs1060502910
|
|
NM_000179.3(MSH6):c.3316G>A (p.Asp1106Asn)
|
|
|
NM_000179.3(MSH6):c.3316G>C (p.Asp1106His)
|
rs1553331552
|
|
NM_000179.3(MSH6):c.3316GAT[1] (p.Asp1107del)
|
rs1064795429
|
|
NM_000179.3(MSH6):c.3317A>G (p.Asp1106Gly)
|
rs1189795764
|
|
NM_000179.3(MSH6):c.3318T>A (p.Asp1106Glu)
|
|
|
NM_000179.3(MSH6):c.3319G>T (p.Asp1107Tyr)
|
|
|
NM_000179.3(MSH6):c.331T>C (p.Tyr111His)
|
rs1668690176
|
|
NM_000179.3(MSH6):c.3320A>C (p.Asp1107Ala)
|
rs1669757838
|
|
NM_000179.3(MSH6):c.3322T>A (p.Phe1108Ile)
|
rs2104480101
|
|
NM_000179.3(MSH6):c.3325A>C (p.Ile1109Leu)
|
rs1669758701
|
|
NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)
|
rs374070511
|
|
NM_000179.3(MSH6):c.3328C>G (p.Pro1110Ala)
|
rs374070511
|
|
NM_000179.3(MSH6):c.332A>G (p.Tyr111Cys)
|
rs1668690263
|
|
NM_000179.3(MSH6):c.3331A>C (p.Asn1111His)
|
rs1553331582
|
|
NM_000179.3(MSH6):c.3335A>T (p.Asp1112Val)
|
rs1165839059
|
|
NM_000179.3(MSH6):c.3337A>G (p.Ile1113Val)
|
rs876658315
|
|
NM_000179.3(MSH6):c.3338T>G (p.Ile1113Ser)
|
rs41295272
|
|
NM_000179.3(MSH6):c.3340C>A (p.Leu1114Ile)
|
rs1064793520
|
|
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)
|
rs1553331600
|
|
NM_000179.3(MSH6):c.3343A>G (p.Ile1115Val)
|
rs1572735738
|
|
NM_000179.3(MSH6):c.3344T>C (p.Ile1115Thr)
|
rs747959862
|
|
NM_000179.3(MSH6):c.3345A>G (p.Ile1115Met)
|
rs1669762062
|
|
NM_000179.3(MSH6):c.3346G>A (p.Gly1116Ser)
|
rs1114167775
|
|
NM_000179.3(MSH6):c.3349T>A (p.Cys1117Ser)
|
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
NM_000179.3(MSH6):c.3356A>G (p.Glu1119Gly)
|
rs876661138
|
|
NM_000179.3(MSH6):c.3358G>C (p.Glu1120Gln)
|
rs1114167793
|
|
NM_000179.3(MSH6):c.3359A>C (p.Glu1120Ala)
|
rs1669764840
|
|
NM_000179.3(MSH6):c.3359A>T (p.Glu1120Val)
|
rs1669764840
|
|
NM_000179.3(MSH6):c.335A>C (p.Asn112Thr)
|
rs587779934
|
|
NM_000179.3(MSH6):c.3360G>C (p.Glu1120Asp)
|
rs146737457
|
|
NM_000179.3(MSH6):c.3361G>A (p.Glu1121Lys)
|
rs587781609
|
|
NM_000179.3(MSH6):c.3361_3362delinsAG (p.Glu1121Arg)
|
rs1669765454
|
|
NM_000179.3(MSH6):c.3362A>T (p.Glu1121Val)
|
rs776589986
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
NM_000179.3(MSH6):c.3365A>C (p.Gln1122Pro)
|
rs1572735859
|
|
NM_000179.3(MSH6):c.3367G>C (p.Glu1123Gln)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3370A>G (p.Asn1124Asp)
|
rs1443258363
|
|
NM_000179.3(MSH6):c.3370A>T (p.Asn1124Tyr)
|
rs1443258363
|
|
NM_000179.3(MSH6):c.3374G>A (p.Gly1125Asp)
|
rs1572735887
|
|
NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)
|
rs765577023
|
|
NM_000179.3(MSH6):c.3376A>G (p.Lys1126Glu)
|
rs2104483165
|
|
NM_000179.3(MSH6):c.3377A>C (p.Lys1126Thr)
|
rs766608409
|
|
NM_000179.3(MSH6):c.337C>T (p.His113Tyr)
|
rs1572708687
|
|
NM_000179.3(MSH6):c.3380C>G (p.Ala1127Gly)
|
rs1572735927
|
|
NM_000179.3(MSH6):c.3380C>T (p.Ala1127Val)
|
rs1572735927
|
|
NM_000179.3(MSH6):c.3382T>C (p.Tyr1128His)
|
rs2104483544
|
|
NM_000179.3(MSH6):c.3383A>C (p.Tyr1128Ser)
|
|
|
NM_000179.3(MSH6):c.3383A>T (p.Tyr1128Phe)
|
rs587779261
|
|
NM_000179.3(MSH6):c.3385T>C (p.Cys1129Arg)
|
rs1060502905
|
|
NM_000179.3(MSH6):c.3386G>A (p.Cys1129Tyr)
|
|
|
NM_000179.3(MSH6):c.3387T>G (p.Cys1129Trp)
|
rs2104483879
|
|
NM_000179.3(MSH6):c.3388G>A (p.Val1130Met)
|
rs752164796
|
|
NM_000179.3(MSH6):c.3388G>T (p.Val1130Leu)
|
rs752164796
|
|
NM_000179.3(MSH6):c.3389T>A (p.Val1130Glu)
|
rs1669769129
|
|
NM_000179.3(MSH6):c.338A>T (p.His113Leu)
|
rs2104103351
|
|
NM_000179.3(MSH6):c.3391C>T (p.Leu1131Phe)
|
rs1572735989
|
|
NM_000179.3(MSH6):c.3394G>A (p.Val1132Ile)
|
rs781676597
|
|
NM_000179.3(MSH6):c.3394G>T (p.Val1132Phe)
|
rs781676597
|
|
NM_000179.3(MSH6):c.3395T>C (p.Val1132Ala)
|
rs1114167711
|
|
NM_000179.3(MSH6):c.3397A>C (p.Thr1133Pro)
|
rs2104484455
|
|
NM_000179.3(MSH6):c.3397A>G (p.Thr1133Ala)
|
rs2104484455
|
|
NM_000179.3(MSH6):c.3398C>G (p.Thr1133Ser)
|
rs730881805
|
|
NM_000179.3(MSH6):c.339C>G (p.His113Gln)
|
rs886056141
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
NM_000179.3(MSH6):c.3400G>A (p.Gly1134Arg)
|
rs1114167697
|
|
NM_000179.3(MSH6):c.3401G>A (p.Gly1134Glu)
|
rs1376398586
|
|
NM_000179.3(MSH6):c.3401G>C (p.Gly1134Ala)
|
rs1376398586
|
|
NM_000179.3(MSH6):c.3403C>A (p.Pro1135Thr)
|
rs1553331733
|
|
NM_000179.3(MSH6):c.3403C>G (p.Pro1135Ala)
|
rs1553331733
|
|
NM_000179.3(MSH6):c.3406A>C (p.Asn1136His)
|
|
|
NM_000179.3(MSH6):c.3406A>G (p.Asn1136Asp)
|
rs2104485048
|
|
NM_000179.3(MSH6):c.3409A>G (p.Met1137Val)
|
rs1558387808
|
|
NM_000179.3(MSH6):c.3409_3411del (p.Met1137del)
|
|
|
NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr)
|
rs1553331742
|
|
NM_000179.3(MSH6):c.3410_3418del (p.Met1137_Gly1139del)
|
rs1553331738
|
|
NM_000179.3(MSH6):c.3412G>A (p.Gly1138Arg)
|
rs1572736091
|
|
NM_000179.3(MSH6):c.3415G>T (p.Gly1139Cys)
|
rs63751063
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
NM_000179.3(MSH6):c.3419A>G (p.Lys1140Arg)
|
|
|
NM_000179.3(MSH6):c.341C>G (p.Pro114Arg)
|
rs863224626
|
|
NM_000179.3(MSH6):c.3421T>C (p.Ser1141Pro)
|
rs1669772948
|
|
NM_000179.3(MSH6):c.3422C>G (p.Ser1141Cys)
|
rs1669773070
|
|
NM_000179.3(MSH6):c.3427C>A (p.Leu1143Ile)
|
|
|
NM_000179.3(MSH6):c.3427C>T (p.Leu1143Phe)
|
rs1236342555
|
|
NM_000179.3(MSH6):c.3429_3431del (p.Met1144del)
|
rs1669773824
|
|
NM_000179.3(MSH6):c.3430A>T (p.Met1144Leu)
|
rs771925339
|
|
NM_000179.3(MSH6):c.3431T>C (p.Met1144Thr)
|
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3432G>A (p.Met1144Ile)
|
|
|
NM_000179.3(MSH6):c.3434G>A (p.Arg1145Lys)
|
rs1553331777
|
|
NM_000179.3(MSH6):c.3437A>C (p.Gln1146Pro)
|
rs587779262
|
|
NM_000179.3(MSH6):c.3437A>G (p.Gln1146Arg)
|
rs587779262
|
|
NM_000179.3(MSH6):c.3438+19_3438+34del
|
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3438+5C>A
|
rs777420424
|
|
NM_000179.3(MSH6):c.3438+5C>G
|
rs777420424
|
|
NM_000179.3(MSH6):c.3438+5C>T
|
rs777420424
|
|
NM_000179.3(MSH6):c.3439-14_3439-13inv
|
|
|
NM_000179.3(MSH6):c.3439-3C>G
|
|
|
NM_000179.3(MSH6):c.3439-7T>G
|
rs863224622
|
|
NM_000179.3(MSH6):c.3439G>C (p.Ala1147Pro)
|
rs770054790
|
|
NM_000179.3(MSH6):c.3440C>A (p.Ala1147Asp)
|
rs876659975
|
|
NM_000179.3(MSH6):c.3440C>G (p.Ala1147Gly)
|
rs876659975
|
|
NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)
|
rs63750257
|
|
NM_000179.3(MSH6):c.3443G>A (p.Gly1148Asp)
|
rs763058648
|
|
NM_000179.3(MSH6):c.3445T>A (p.Leu1149Ile)
|
rs878853735
|
|
NM_000179.3(MSH6):c.3448T>G (p.Leu1150Val)
|
rs774584492
|
|
NM_000179.3(MSH6):c.3449T>C (p.Leu1150Ser)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.344T>C (p.Phe115Ser)
|
rs781271765
|
|
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)
|
rs762134820
|
|
NM_000179.3(MSH6):c.3452C>T (p.Ala1151Val)
|
rs587782625
|
|
NM_000179.3(MSH6):c.3454G>A (p.Val1152Ile)
|
rs1572738396
|
|
NM_000179.3(MSH6):c.3459G>A (p.Met1153Ile)
|
rs1553332160
|
|
NM_000179.3(MSH6):c.3460G>C (p.Ala1154Pro)
|
rs1572738413
|
|
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp)
|
rs786202842
|
|
NM_000179.3(MSH6):c.3461C>T (p.Ala1154Val)
|
|
|
NM_000179.3(MSH6):c.3465G>C (p.Gln1155His)
|
rs766817979
|
|
NM_000179.3(MSH6):c.3466A>G (p.Met1156Val)
|
rs1060502931
|
|
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)
|
rs876659549
|
|
NM_000179.3(MSH6):c.3468G>A (p.Met1156Ile)
|
rs876658980
|
|
NM_000179.3(MSH6):c.3468G>C (p.Met1156Ile)
|
rs876658980
|
|
NM_000179.3(MSH6):c.3468G>T (p.Met1156Ile)
|
|
|
NM_000179.3(MSH6):c.346G>A (p.Asp116Asn)
|
rs1060502871
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3470G>T (p.Gly1157Val)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3472T>A (p.Cys1158Ser)
|
rs63750157
|
|
NM_000179.3(MSH6):c.3472T>G (p.Cys1158Gly)
|
rs63750157
|
|
NM_000179.3(MSH6):c.3478G>C (p.Val1160Leu)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.347A>G (p.Asp116Gly)
|
rs1553410255
|
|
NM_000179.3(MSH6):c.3481C>A (p.Pro1161Thr)
|
rs751190199
|
|
NM_000179.3(MSH6):c.3484G>A (p.Ala1162Thr)
|
rs587779266
|
|
NM_000179.3(MSH6):c.3484G>C (p.Ala1162Pro)
|
rs587779266
|
|
NM_000179.3(MSH6):c.3487G>A (p.Glu1163Lys)
|
rs587779267
|
|
NM_000179.3(MSH6):c.3489A>C (p.Glu1163Asp)
|
rs531674673
|
|
NM_000179.3(MSH6):c.3490G>A (p.Val1164Met)
|
rs2104506590
|
|
NM_000179.3(MSH6):c.3491T>C (p.Val1164Ala)
|
rs2104506640
|
|
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)
|
rs1669872142
|
|
NM_000179.3(MSH6):c.3498G>C (p.Arg1166Ser)
|
rs1553332214
|
|
NM_000179.3(MSH6):c.3499C>G (p.Leu1167Val)
|
rs1553332217
|
|
NM_000179.3(MSH6):c.3499C>T (p.Leu1167Phe)
|
rs1553332217
|
|
NM_000179.3(MSH6):c.349G>A (p.Gly117Arg)
|
rs1558652014
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
NM_000179.3(MSH6):c.3502A>C (p.Thr1168Pro)
|
rs1558389395
|
|
NM_000179.3(MSH6):c.3503C>A (p.Thr1168Lys)
|
|
|
NM_000179.3(MSH6):c.3503C>T (p.Thr1168Ile)
|
|
|
NM_000179.3(MSH6):c.3505C>A (p.Pro1169Thr)
|
rs904846776
|
|
NM_000179.3(MSH6):c.3506C>G (p.Pro1169Arg)
|
|
|
NM_000179.3(MSH6):c.3508A>C (p.Ile1170Leu)
|
rs1558389423
|
|
NM_000179.3(MSH6):c.3508A>G (p.Ile1170Val)
|
rs1558389423
|
|
NM_000179.3(MSH6):c.3509T>C (p.Ile1170Thr)
|
rs1572738741
|
|
NM_000179.3(MSH6):c.350G>A (p.Gly117Glu)
|
rs1668691850
|
|
NM_000179.3(MSH6):c.350G>C (p.Gly117Ala)
|
rs1668691850
|
|
NM_000179.3(MSH6):c.3511G>C (p.Asp1171His)
|
rs1669874241
|
|
NM_000179.3(MSH6):c.3514A>G (p.Arg1172Gly)
|
rs1669875200
|
|
NM_000179.3(MSH6):c.3515G>A (p.Arg1172Lys)
|
rs864622217
|
|
NM_000179.3(MSH6):c.3515G>C (p.Arg1172Thr)
|
rs864622217
|
|
NM_000179.3(MSH6):c.3516A>T (p.Arg1172Ser)
|
rs1553332262
|
|
NM_000179.3(MSH6):c.3517G>A (p.Val1173Met)
|
rs730881806
|
|
NM_000179.3(MSH6):c.3517G>C (p.Val1173Leu)
|
rs730881806
|
|
NM_000179.3(MSH6):c.3520T>C (p.Phe1174Leu)
|
rs1669876490
|
|
NM_000179.3(MSH6):c.3521T>A (p.Phe1174Tyr)
|
rs1669876634
|
|
NM_000179.3(MSH6):c.3521T>G (p.Phe1174Cys)
|
rs1669876634
|
|
NM_000179.3(MSH6):c.3524C>A (p.Thr1175Asn)
|
rs369583604
|
|
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser)
|
rs369583604
|
|
NM_000179.3(MSH6):c.3524_3540delinsTT (p.Thr1175_Ser1180delinsIle)
|
rs1553332283
|
|
NM_000179.3(MSH6):c.3527G>A (p.Arg1176Lys)
|
rs876661148
|
|
NM_000179.3(MSH6):c.3529C>A (p.Leu1177Ile)
|
rs748398941
|
|
NM_000179.3(MSH6):c.3530T>C (p.Leu1177Pro)
|
|
|
NM_000179.3(MSH6):c.3530T>G (p.Leu1177Arg)
|
rs1572738932
|
|
NM_000179.3(MSH6):c.3532G>A (p.Gly1178Ser)
|
rs1558389590
|
|
NM_000179.3(MSH6):c.3532G>C (p.Gly1178Arg)
|
rs1558389590
|
|
NM_000179.3(MSH6):c.3533G>A (p.Gly1178Asp)
|
rs772380953
|
|
NM_000179.3(MSH6):c.3533G>T (p.Gly1178Val)
|
|
|
NM_000179.3(MSH6):c.3536C>A (p.Ala1179Asp)
|
rs773583312
|
|
NM_000179.3(MSH6):c.3539C>T (p.Ser1180Leu)
|
|
|
NM_000179.3(MSH6):c.3541G>C (p.Asp1181His)
|
rs762406364
|
|
NM_000179.3(MSH6):c.3542A>G (p.Asp1181Gly)
|
rs876660216
|
|
NM_000179.3(MSH6):c.3542A>T (p.Asp1181Val)
|
rs876660216
|
|
NM_000179.3(MSH6):c.3543C>A (p.Asp1181Glu)
|
rs267608100
|
|
NM_000179.3(MSH6):c.3545G>C (p.Arg1182Thr)
|
rs1669880235
|
|
NM_000179.3(MSH6):c.3546AAT[1] (p.Ile1183del)
|
rs751279985
|
|
NM_000179.3(MSH6):c.3547A>G (p.Ile1183Val)
|
|
|
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys)
|
rs1459635476
|
|
NM_000179.3(MSH6):c.3552G>C (p.Met1184Ile)
|
rs1376983554
|
|
NM_000179.3(MSH6):c.3552_3554del (p.Met1184_Ser1185delinsIle)
|
rs1669881014
|
|
NM_000179.3(MSH6):c.3553T>C (p.Ser1185Pro)
|
rs786202777
|
|
NM_000179.3(MSH6):c.3553T>G (p.Ser1185Ala)
|
rs786202777
|
|
NM_000179.3(MSH6):c.3555A>C (p.Ser1185=)
|
rs1669881416
|
|
NM_000179.3(MSH6):c.3556+20C>G
|
rs750274526
|
|
NM_000179.3(MSH6):c.3556+4A>G
|
|
|
NM_000179.3(MSH6):c.3556+5_3556+8delinsCATTATTGTCAGG
|
rs2104510542
|
|
NM_000179.3(MSH6):c.3556G>T (p.Gly1186Cys)
|
|
|
NM_000179.3(MSH6):c.3557-2del
|
rs587779271
|
|
NM_000179.3(MSH6):c.3557-3A>G
|
rs41295274
|
|
NM_000179.3(MSH6):c.355T>C (p.Phe119Leu)
|
rs1558652032
|
|
NM_000179.3(MSH6):c.355T>G (p.Phe119Val)
|
rs1558652032
|
|
NM_000179.3(MSH6):c.3560A>T (p.Glu1187Val)
|
rs150632241
|
|
NM_000179.3(MSH6):c.3561A>C (p.Glu1187Asp)
|
rs1553332629
|
|
NM_000179.3(MSH6):c.3564T>A (p.Ser1188Arg)
|
rs1669957613
|
|
NM_000179.3(MSH6):c.3564T>G (p.Ser1188Arg)
|
|
|
NM_000179.3(MSH6):c.3568T>G (p.Phe1190Val)
|
rs778651272
|
|
NM_000179.3(MSH6):c.356T>G (p.Phe119Cys)
|
rs1060502893
|
|
NM_000179.3(MSH6):c.3572T>C (p.Phe1191Ser)
|
rs1420669902
|
|
NM_000179.3(MSH6):c.3574G>A (p.Val1192Ile)
|
rs1669959178
|
|
NM_000179.3(MSH6):c.3575T>C (p.Val1192Ala)
|
rs1572741755
|
|
NM_000179.3(MSH6):c.3578A>C (p.Glu1193Ala)
|
rs2104522976
|
|
NM_000179.3(MSH6):c.3579A>C (p.Glu1193Asp)
|
rs1060504759
|
|
NM_000179.3(MSH6):c.357C>A (p.Phe119Leu)
|
rs1298565919
|
|
NM_000179.3(MSH6):c.3585T>G (p.Ser1195Arg)
|
rs1572741819
|
|
NM_000179.3(MSH6):c.3586G>A (p.Glu1196Lys)
|
rs75095286
|
|
NM_000179.3(MSH6):c.3587A>T (p.Glu1196Val)
|
rs1669961764
|
|
NM_000179.3(MSH6):c.358A>T (p.Ile120Phe)
|
rs146455343
|
|
NM_000179.3(MSH6):c.3590C>A (p.Thr1197Asn)
|
rs1298129961
|
|
NM_000179.3(MSH6):c.3590C>G (p.Thr1197Ser)
|
rs1298129961
|
|
NM_000179.3(MSH6):c.3590C>T (p.Thr1197Ile)
|
rs1298129961
|
|
NM_000179.3(MSH6):c.3593C>T (p.Ala1198Val)
|
|
|
NM_000179.3(MSH6):c.3595A>T (p.Ser1199Cys)
|
rs1558390771
|
|
NM_000179.3(MSH6):c.3596G>A (p.Ser1199Asn)
|
rs773185557
|
|
NM_000179.3(MSH6):c.3596G>C (p.Ser1199Thr)
|
rs773185557
|
|
NM_000179.3(MSH6):c.3597C>G (p.Ser1199Arg)
|
|
|
NM_000179.3(MSH6):c.3599T>C (p.Ile1200Thr)
|
rs1572741875
|
|
NM_000179.3(MSH6):c.359T>G (p.Ile120Ser)
|
rs775971872
|
|
NM_000179.3(MSH6):c.35C>G (p.Pro12Arg)
|
rs760603184
|
|
NM_000179.3(MSH6):c.3603_3605dup (p.Leu1201_Met1202insIle)
|
rs1064796248
|
|
NM_000179.3(MSH6):c.3604A>C (p.Met1202Leu)
|
|
|
NM_000179.3(MSH6):c.3605T>G (p.Met1202Arg)
|
rs587779273
|
|
NM_000179.3(MSH6):c.3607C>T (p.His1203Tyr)
|
rs876660882
|
|
NM_000179.3(MSH6):c.3608A>C (p.His1203Pro)
|
rs1669964889
|
|
NM_000179.3(MSH6):c.3608A>G (p.His1203Arg)
|
rs1669964889
|
|
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)
|
rs869312799
|
|
NM_000179.3(MSH6):c.3613A>G (p.Thr1205Ala)
|
rs1064797252
|
|
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup)
|
rs1558390840
|
|
NM_000179.3(MSH6):c.3614C>A (p.Thr1205Lys)
|
rs587779275
|
|
NM_000179.3(MSH6):c.3614C>T (p.Thr1205Ile)
|
rs587779275
|
|
NM_000179.3(MSH6):c.3617C>T (p.Ala1206Val)
|
|
|
NM_000179.3(MSH6):c.3619C>T (p.His1207Tyr)
|
rs760391254
|
|
NM_000179.3(MSH6):c.3620A>G (p.His1207Arg)
|
rs2104525263
|
|
NM_000179.3(MSH6):c.3621T>G (p.His1207Gln)
|
rs766075233
|
|
NM_000179.3(MSH6):c.3622T>A (p.Ser1208Thr)
|
|
|
NM_000179.3(MSH6):c.3623C>A (p.Ser1208Tyr)
|
rs1572742021
|
|
NM_000179.3(MSH6):c.3623C>G (p.Ser1208Cys)
|
rs1572742021
|
|
NM_000179.3(MSH6):c.3623C>T (p.Ser1208Phe)
|
rs1572742021
|
|
NM_000179.3(MSH6):c.3625C>G (p.Leu1209Val)
|
rs753675331
|
|
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)
|
rs1114167688
|
|
NM_000179.3(MSH6):c.3628G>A (p.Val1210Met)
|
rs759216143
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
NM_000179.3(MSH6):c.3634G>C (p.Val1212Leu)
|
rs864622748
|
|
NM_000179.3(MSH6):c.3635T>C (p.Val1212Ala)
|
rs1060502896
|
|
NM_000179.3(MSH6):c.3637G>A (p.Asp1213Asn)
|
rs1572742149
|
|
NM_000179.3(MSH6):c.3637G>C (p.Asp1213His)
|
rs1572742149
|
|
NM_000179.3(MSH6):c.3639T>A (p.Asp1213Glu)
|
rs1114167788
|
|
NM_000179.3(MSH6):c.3640G>A (p.Glu1214Lys)
|
rs1114167744
|
|
NM_000179.3(MSH6):c.3640G>C (p.Glu1214Gln)
|
rs1114167744
|
|
NM_000179.3(MSH6):c.3646+4A>G
|
|
|
NM_000179.3(MSH6):c.3646+5G>A
|
rs1669974239
|
|
NM_000179.3(MSH6):c.3646+5G>C
|
rs1669974239
|
|
NM_000179.3(MSH6):c.3646+6A>C
|
rs1669974451
|
|
NM_000179.3(MSH6):c.3646+6A>G
|
|
|
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3647-3C>T
|
rs1553332959
|
|
NM_000179.3(MSH6):c.3647-5_3647-2dup
|
|
|
NM_000179.3(MSH6):c.3650G>A (p.Arg1217Lys)
|
rs63749898
|
|
NM_000179.3(MSH6):c.3650G>C (p.Arg1217Thr)
|
rs63749898
|
|
NM_000179.3(MSH6):c.3651A>C (p.Arg1217Ser)
|
rs1553332966
|
|
NM_000179.3(MSH6):c.3651A>T (p.Arg1217Ser)
|
rs1553332966
|
|
NM_000179.3(MSH6):c.3652G>A (p.Gly1218Ser)
|
rs776407427
|
|
NM_000179.3(MSH6):c.3652G>C (p.Gly1218Arg)
|
rs776407427
|
|
NM_000179.3(MSH6):c.3653_3667dup (p.Gly1218_Phe1222dup)
|
rs1670040131
|
|
NM_000179.3(MSH6):c.3654_3671del (p.Thr1221_Ala1226del)
|
rs1670040273
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
NM_000179.3(MSH6):c.3657T>G (p.Thr1219=)
|
rs745491567
|
|
NM_000179.3(MSH6):c.3657_3661delinsCTCAT (p.Ala1220_Thr1221delinsSerSer)
|
rs1553332973
|
|
NM_000179.3(MSH6):c.3658G>A (p.Ala1220Thr)
|
rs769427505
|
|
NM_000179.3(MSH6):c.3659C>T (p.Ala1220Val)
|
rs2104537293
|
|
NM_000179.3(MSH6):c.365A>G (p.Glu122Gly)
|
rs1558652077
|
|
NM_000179.3(MSH6):c.3661A>G (p.Thr1221Ala)
|
|
|
NM_000179.3(MSH6):c.3661A>T (p.Thr1221Ser)
|
rs1670041286
|
|
NM_000179.3(MSH6):c.3661_3663dup (p.Thr1221dup)
|
rs2104537348
|
|
NM_000179.3(MSH6):c.3662C>T (p.Thr1221Ile)
|
rs876661139
|
|
NM_000179.3(MSH6):c.3664T>G (p.Phe1222Val)
|
rs775265464
|
|
NM_000179.3(MSH6):c.3667G>A (p.Asp1223Asn)
|
rs2104537711
|
|
NM_000179.3(MSH6):c.3669T>G (p.Asp1223Glu)
|
rs1572744487
|
|
NM_000179.3(MSH6):c.3670G>A (p.Gly1224Arg)
|
rs1553332985
|
|
NM_000179.3(MSH6):c.3670G>C (p.Gly1224Arg)
|
rs1553332985
|
|
NM_000179.3(MSH6):c.3674C>A (p.Thr1225Lys)
|
rs63750370
|
|
NM_000179.3(MSH6):c.3674C>G (p.Thr1225Arg)
|
|
|
NM_000179.3(MSH6):c.3676G>A (p.Ala1226Thr)
|
rs1064794746
|
|
NM_000179.3(MSH6):c.3679A>G (p.Ile1227Val)
|
rs587779282
|
|
NM_000179.3(MSH6):c.3679_3690del (p.Ile1227_Ala1230del)
|
rs2104538290
|
|
NM_000179.3(MSH6):c.3680T>G (p.Ile1227Arg)
|
rs2104538496
|
|
NM_000179.3(MSH6):c.3681A>G (p.Ile1227Met)
|
|
|
NM_000179.3(MSH6):c.3682G>A (p.Ala1228Thr)
|
|
|
NM_000179.3(MSH6):c.3683C>T (p.Ala1228Val)
|
rs2104538706
|
|
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del)
|
rs2104538620
|
|
NM_000179.3(MSH6):c.3685A>T (p.Asn1229Tyr)
|
rs774249402
|
|
NM_000179.3(MSH6):c.3687T>A (p.Asn1229Lys)
|
rs2104538967
|
|
NM_000179.3(MSH6):c.3687T>G (p.Asn1229Lys)
|
|
|
NM_000179.3(MSH6):c.3692T>A (p.Val1231Asp)
|
rs1221659275
|
|
NM_000179.3(MSH6):c.3692T>C (p.Val1231Ala)
|
rs1221659275
|
|
NM_000179.3(MSH6):c.3694G>A (p.Val1232Ile)
|
rs41295276
|
|
NM_000179.3(MSH6):c.3694G>C (p.Val1232Leu)
|
rs41295276
|
|
NM_000179.3(MSH6):c.3695T>A (p.Val1232Asp)
|
rs786202887
|
|
NM_000179.3(MSH6):c.3695T>C (p.Val1232Ala)
|
|
|
NM_000179.3(MSH6):c.3695T>G (p.Val1232Gly)
|
|
|
NM_000179.3(MSH6):c.3697A>G (p.Lys1233Glu)
|
rs1572744617
|
|
NM_000179.3(MSH6):c.3697_3699del (p.Lys1233del)
|
|
|
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)
|
rs587782106
|
|
NM_000179.3(MSH6):c.3700G>A (p.Glu1234Lys)
|
rs35717727
|
|
NM_000179.3(MSH6):c.3702A>T (p.Glu1234Asp)
|
|
|
NM_000179.3(MSH6):c.3703C>T (p.Leu1235Phe)
|
rs876661084
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
NM_000179.3(MSH6):c.3707C>G (p.Ala1236Gly)
|
rs2104540584
|
|
NM_000179.3(MSH6):c.3709G>C (p.Glu1237Gln)
|
rs1670047042
|
|
NM_000179.3(MSH6):c.370G>C (p.Gly124Arg)
|
rs786203479
|
|
NM_000179.3(MSH6):c.3712A>T (p.Thr1238Ser)
|
rs1000702910
|
|
NM_000179.3(MSH6):c.3713C>T (p.Thr1238Ile)
|
|
|
NM_000179.3(MSH6):c.3716T>C (p.Ile1239Thr)
|
rs786203816
|
|
NM_000179.3(MSH6):c.3716T>G (p.Ile1239Arg)
|
rs786203816
|
|
NM_000179.3(MSH6):c.3717A>G (p.Ile1239Met)
|
rs1572744771
|
|
NM_000179.3(MSH6):c.3719A>G (p.Lys1240Arg)
|
rs1553333057
|
|
NM_000179.3(MSH6):c.371G>T (p.Gly124Val)
|
rs1553410286
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3724C>T (p.Arg1242Cys)
|
rs587779285
|
|
NM_000179.3(MSH6):c.3725G>C (p.Arg1242Pro)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3727A>C (p.Thr1243Pro)
|
rs147453999
|
|
NM_000179.3(MSH6):c.3728C>A (p.Thr1243Lys)
|
rs878853737
|
|
NM_000179.3(MSH6):c.3728C>G (p.Thr1243Arg)
|
|
|
NM_000179.3(MSH6):c.3728C>T (p.Thr1243Ile)
|
rs878853737
|
|
NM_000179.3(MSH6):c.3729ATT[3] (p.Leu1244dup)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val)
|
rs1060502938
|
|
NM_000179.3(MSH6):c.3731T>C (p.Leu1244Ser)
|
rs1558392241
|
|
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala)
|
rs769360577
|
|
NM_000179.3(MSH6):c.373A>C (p.Lys125Gln)
|
rs372352774
|
|
NM_000179.3(MSH6):c.3743A>G (p.His1248Arg)
|
|
|
NM_000179.3(MSH6):c.3744C>A (p.His1248Gln)
|
rs1670056970
|
|
NM_000179.3(MSH6):c.3745T>G (p.Tyr1249Asp)
|
|
|
NM_000179.3(MSH6):c.374A>C (p.Lys125Thr)
|
rs2104106436
|
|
NM_000179.3(MSH6):c.3752C>T (p.Ser1251Leu)
|
rs1558392317
|
|
NM_000179.3(MSH6):c.3754T>A (p.Leu1252Ile)
|
rs1415810815
|
|
NM_000179.3(MSH6):c.3755TAG[1] (p.Val1253del)
|
rs1670059017
|
|
NM_000179.3(MSH6):c.3757G>A (p.Val1253Ile)
|
rs187491488
|
|
NM_000179.3(MSH6):c.3757G>C (p.Val1253Leu)
|
rs187491488
|
|
NM_000179.3(MSH6):c.3757G>T (p.Val1253Leu)
|
rs187491488
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3759AGA[1] (p.Glu1254del)
|
rs587779937
|
|
NM_000179.3(MSH6):c.375A>G (p.Lys125=)
|
rs1668695449
|
|
NM_000179.3(MSH6):c.3760G>C (p.Glu1254Gln)
|
rs1558392392
|
|
NM_000179.3(MSH6):c.3761A>T (p.Glu1254Val)
|
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
NM_000179.3(MSH6):c.3763_3765dup (p.Asp1255dup)
|
rs1670061805
|
|
NM_000179.3(MSH6):c.3764A>T (p.Asp1255Val)
|
|
|
NM_000179.3(MSH6):c.3764ATT[1] (p.Tyr1256del)
|
rs2104544843
|
|
NM_000179.3(MSH6):c.3766T>A (p.Tyr1256Asn)
|
rs1553333129
|
|
NM_000179.3(MSH6):c.3766T>C (p.Tyr1256His)
|
rs1553333129
|
|
NM_000179.3(MSH6):c.3767A>G (p.Tyr1256Cys)
|
rs761643896
|
|
NM_000179.3(MSH6):c.3770C>A (p.Ser1257Tyr)
|
rs1670062923
|
|
NM_000179.3(MSH6):c.3776A>C (p.Asn1259Thr)
|
rs1258636828
|
|
NM_000179.3(MSH6):c.3778G>T (p.Val1260Phe)
|
rs63750673
|
|
NM_000179.3(MSH6):c.377C>T (p.Ser126Leu)
|
|
|
NM_000179.3(MSH6):c.3781G>A (p.Ala1261Thr)
|
rs2104545816
|
|
NM_000179.3(MSH6):c.3781G>T (p.Ala1261Ser)
|
rs2104545816
|
|
NM_000179.3(MSH6):c.3784G>A (p.Val1262Met)
|
rs587779290
|
|
NM_000179.3(MSH6):c.3784G>C (p.Val1262Leu)
|
rs587779290
|
|
NM_000179.3(MSH6):c.3788G>T (p.Arg1263Leu)
|
rs147852216
|
|
NM_000179.3(MSH6):c.3788_3796del (p.Arg1263_Gly1265del)
|
rs1670065671
|
|
NM_000179.3(MSH6):c.3790C>G (p.Leu1264Val)
|
|
|
NM_000179.3(MSH6):c.3793G>A (p.Gly1265Arg)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3796C>G (p.His1266Asp)
|
rs972387746
|
|
NM_000179.3(MSH6):c.3797A>G (p.His1266Arg)
|
rs760023025
|
|
NM_000179.3(MSH6):c.3798T>G (p.His1266Gln)
|
|
|
NM_000179.3(MSH6):c.37A>C (p.Lys13Gln)
|
rs942019524
|
|
NM_000179.3(MSH6):c.37A>G (p.Lys13Glu)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3800T>G (p.Met1267Arg)
|
rs148445930
|
|
NM_000179.3(MSH6):c.3801+10A>G
|
rs1572745467
|
|
NM_000179.3(MSH6):c.3801+3A>G
|
rs753049136
|
|
NM_000179.3(MSH6):c.3801+4T>G
|
|
|
NM_000179.3(MSH6):c.3801+6T>A
|
rs749922503
|
|
NM_000179.3(MSH6):c.3801G>A (p.Met1267Ile)
|
rs1670069736
|
|
NM_000179.3(MSH6):c.3802-3A>G
|
rs778499259
|
|
NM_000179.3(MSH6):c.3802-5T>G
|
rs876660224
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
NM_000179.3(MSH6):c.3802G>A (p.Ala1268Thr)
|
|
|
NM_000179.3(MSH6):c.3803C>A (p.Ala1268Glu)
|
rs587779293
|
|
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val)
|
rs587779293
|
|
NM_000179.3(MSH6):c.3806G>A (p.Cys1269Tyr)
|
rs876658276
|
|
NM_000179.3(MSH6):c.3808A>C (p.Met1270Leu)
|
rs757963162
|
|
NM_000179.3(MSH6):c.3809T>C (p.Met1270Thr)
|
rs777617756
|
|
NM_000179.3(MSH6):c.3809T>G (p.Met1270Arg)
|
|
|
NM_000179.3(MSH6):c.380T>G (p.Val127Gly)
|
|
|
NM_000179.3(MSH6):c.3810G>A (p.Met1270Ile)
|
rs1558393029
|
|
NM_000179.3(MSH6):c.3811G>A (p.Val1271Ile)
|
rs770929545
|
|
NM_000179.3(MSH6):c.3811G>T (p.Val1271Leu)
|
|
|
NM_000179.3(MSH6):c.3812T>C (p.Val1271Ala)
|
rs1553333303
|
|
NM_000179.3(MSH6):c.3814G>C (p.Glu1272Gln)
|
rs2104552027
|
|
NM_000179.3(MSH6):c.3815A>G (p.Glu1272Gly)
|
rs1670092894
|
|
NM_000179.3(MSH6):c.3817A>G (p.Asn1273Asp)
|
rs1320711528
|
|
NM_000179.3(MSH6):c.3820G>A (p.Glu1274Lys)
|
rs587779294
|
|
NM_000179.3(MSH6):c.3820G>C (p.Glu1274Gln)
|
rs587779294
|
|
NM_000179.3(MSH6):c.3823T>A (p.Cys1275Ser)
|
rs1670094883
|
|
NM_000179.3(MSH6):c.3823T>C (p.Cys1275Arg)
|
rs1670094883
|
|
NM_000179.3(MSH6):c.3823_3828del (p.Cys1275_Glu1276del)
|
rs1558393107
|
|
NM_000179.3(MSH6):c.3824G>C (p.Cys1275Ser)
|
rs150990541
|
|
NM_000179.3(MSH6):c.3824G>T (p.Cys1275Phe)
|
rs150990541
|
|
NM_000179.3(MSH6):c.3827A>G (p.Glu1276Gly)
|
rs1572746334
|
|
NM_000179.3(MSH6):c.382C>A (p.Arg128Ser)
|
|
|
NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)
|
rs1251938412
|
|
NM_000179.3(MSH6):c.3831C>G (p.Asp1277Glu)
|
rs775752224
|
|
NM_000179.3(MSH6):c.3832C>G (p.Pro1278Ala)
|
rs587782109
|
|
NM_000179.3(MSH6):c.3832C>T (p.Pro1278Ser)
|
rs587782109
|
|
NM_000179.3(MSH6):c.3833C>A (p.Pro1278His)
|
rs201191389
|
|
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg)
|
rs201191389
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
NM_000179.3(MSH6):c.3836G>T (p.Ser1279Ile)
|
|
|
NM_000179.3(MSH6):c.3837C>A (p.Ser1279Arg)
|
rs876661245
|
|
NM_000179.3(MSH6):c.3839A>C (p.Gln1280Pro)
|
rs1210663110
|
|
NM_000179.3(MSH6):c.383G>A (p.Arg128His)
|
rs63750143
|
|
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)
|
rs63750143
|
|
NM_000179.3(MSH6):c.3840G>T (p.Gln1280His)
|
|
|
NM_000179.3(MSH6):c.3841G>A (p.Glu1281Lys)
|
rs876659115
|
|
NM_000179.3(MSH6):c.3842A>G (p.Glu1281Gly)
|
|
|
NM_000179.3(MSH6):c.3842_3877dup (p.Glu1281_Gly1292dup)
|
rs1670100146
|
|
NM_000179.3(MSH6):c.3844A>C (p.Thr1282Pro)
|
rs764507968
|
|
NM_000179.3(MSH6):c.3844A>G (p.Thr1282Ala)
|
rs764507968
|
|
NM_000179.3(MSH6):c.3844_3873dup (p.Thr1282_Lys1291dup)
|
rs1328755147
|
|
NM_000179.3(MSH6):c.3845C>T (p.Thr1282Ile)
|
|
|
NM_000179.3(MSH6):c.3845_3847del (p.Thr1282del)
|
rs1367615271
|
|
NM_000179.3(MSH6):c.3847A>T (p.Ile1283Phe)
|
|
|
NM_000179.3(MSH6):c.3847_3858dup (p.Ile1283_Leu1286dup)
|
rs1553333410
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
NM_000179.3(MSH6):c.3850A>G (p.Thr1284Ala)
|
rs1114167743
|
|
NM_000179.3(MSH6):c.3850A>T (p.Thr1284Ser)
|
|
|
NM_000179.3(MSH6):c.3850_3851insGGA (p.Ile1283_Thr1284insArg)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851C>A (p.Thr1284Lys)
|
rs63750836
|
|
NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg)
|
rs63750836
|
|
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del)
|
rs1572746651
|
|
NM_000179.3(MSH6):c.3854T>A (p.Phe1285Tyr)
|
rs1553333453
|
|
NM_000179.3(MSH6):c.3855C>G (p.Phe1285Leu)
|
rs1553333455
|
|
NM_000179.3(MSH6):c.3856C>G (p.Leu1286Val)
|
rs1060502887
|
|
NM_000179.3(MSH6):c.3856C>T (p.Leu1286Phe)
|
rs1060502887
|
|
NM_000179.3(MSH6):c.3859T>C (p.Tyr1287His)
|
rs1553333474
|
|
NM_000179.3(MSH6):c.3859delinsATTA (p.Tyr1287delinsIleAsn)
|
rs1670107084
|
|
NM_000179.3(MSH6):c.385G>A (p.Val129Ile)
|
rs1572708884
|
|
NM_000179.3(MSH6):c.385G>C (p.Val129Leu)
|
rs1572708884
|
|
NM_000179.3(MSH6):c.385G>T (p.Val129Phe)
|
|
|
NM_000179.3(MSH6):c.3860A>G (p.Tyr1287Cys)
|
rs2104556282
|
|
NM_000179.3(MSH6):c.3862A>C (p.Lys1288Gln)
|
rs1670108145
|
|
NM_000179.3(MSH6):c.3862_3882dup (p.Lys1288_Cys1294dup)
|
rs1670107768
|
|
NM_000179.3(MSH6):c.3863A>T (p.Lys1288Ile)
|
rs1572746849
|
|
NM_000179.3(MSH6):c.3865T>G (p.Phe1289Val)
|
rs1670109084
|
|
NM_000179.3(MSH6):c.3867C>G (p.Phe1289Leu)
|
rs878853740
|
|
NM_000179.3(MSH6):c.3868A>G (p.Ile1290Val)
|
|
|
NM_000179.3(MSH6):c.3871A>C (p.Lys1291Gln)
|
rs1553333490
|
|
NM_000179.3(MSH6):c.3871A>G (p.Lys1291Glu)
|
rs1553333490
|
|
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
|
rs1670110153
|
|
NM_000179.3(MSH6):c.3874G>A (p.Gly1292Arg)
|
rs1670110414
|
|
NM_000179.3(MSH6):c.3875G>C (p.Gly1292Ala)
|
rs1553333492
|
|
NM_000179.3(MSH6):c.3877G>A (p.Ala1293Thr)
|
|
|
NM_000179.3(MSH6):c.3877G>C (p.Ala1293Pro)
|
rs1461336062
|
|
NM_000179.3(MSH6):c.3877G>T (p.Ala1293Ser)
|
rs1461336062
|
|
NM_000179.3(MSH6):c.3878C>A (p.Ala1293Asp)
|
rs764835191
|
|
NM_000179.3(MSH6):c.3878C>T (p.Ala1293Val)
|
rs764835191
|
|
NM_000179.3(MSH6):c.3881G>A (p.Cys1294Tyr)
|
rs878853741
|
|
NM_000179.3(MSH6):c.3881G>C (p.Cys1294Ser)
|
|
|
NM_000179.3(MSH6):c.3881G>T (p.Cys1294Phe)
|
rs878853741
|
|
NM_000179.3(MSH6):c.3883C>T (p.Pro1295Ser)
|
rs2104558109
|
|
NM_000179.3(MSH6):c.3887A>G (p.Lys1296Arg)
|
rs1553333526
|
|
NM_000179.3(MSH6):c.3889A>T (p.Ser1297Cys)
|
rs1670114718
|
|
NM_000179.3(MSH6):c.3890G>A (p.Ser1297Asn)
|
rs1670115084
|
|
NM_000179.3(MSH6):c.3890G>C (p.Ser1297Thr)
|
rs1670115084
|
|
NM_000179.3(MSH6):c.3891C>G (p.Ser1297Arg)
|
|
|
NM_000179.3(MSH6):c.3892T>A (p.Tyr1298Asn)
|
rs1572747027
|
|
NM_000179.3(MSH6):c.3895G>A (p.Gly1299Ser)
|
rs1553333534
|
|
NM_000179.3(MSH6):c.3896G>A (p.Gly1299Asp)
|
|
|
NM_000179.3(MSH6):c.3898T>G (p.Phe1300Val)
|
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
NM_000179.3(MSH6):c.38A>T (p.Lys13Met)
|
rs41294988
|
|
NM_000179.3(MSH6):c.3901A>C (p.Asn1301His)
|
rs1184905732
|
|
NM_000179.3(MSH6):c.3901_3912del (p.Asn1301_Arg1304del)
|
rs1114167762
|
|
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr)
|
rs1553333561
|
|
NM_000179.3(MSH6):c.3904G>T (p.Ala1302Ser)
|
|
|
NM_000179.3(MSH6):c.3904_3921dup (p.Ala1302_Asn1307dup)
|
rs876661157
|
|
NM_000179.3(MSH6):c.3905C>T (p.Ala1302Val)
|
|
|
NM_000179.3(MSH6):c.3911G>C (p.Arg1304Thr)
|
rs34625968
|
|
NM_000179.3(MSH6):c.3911G>T (p.Arg1304Met)
|
rs34625968
|
|
NM_000179.3(MSH6):c.3912G>C (p.Arg1304Ser)
|
rs786202333
|
|
NM_000179.3(MSH6):c.3913C>A (p.Leu1305Ile)
|
|
|
NM_000179.3(MSH6):c.3916G>A (p.Ala1306Thr)
|
|
|
NM_000179.3(MSH6):c.3918_3929dup (p.Pro1309_Glu1310insAspAsnLeuPro)
|
|
|
NM_000179.3(MSH6):c.3919A>C (p.Asn1307His)
|
rs730881808
|
|
NM_000179.3(MSH6):c.3919A>T (p.Asn1307Tyr)
|
rs730881808
|
|
NM_000179.3(MSH6):c.391G>T (p.Val131Leu)
|
rs765060096
|
|
NM_000179.3(MSH6):c.3920A>G (p.Asn1307Ser)
|
|
|
NM_000179.3(MSH6):c.3921T>A (p.Asn1307Lys)
|
rs876659660
|
|
NM_000179.3(MSH6):c.3921T>G (p.Asn1307Lys)
|
rs876659660
|
|
NM_000179.3(MSH6):c.3922C>G (p.Leu1308Val)
|
rs1670123500
|
|
NM_000179.3(MSH6):c.3922C>T (p.Leu1308Phe)
|
rs1670123500
|
|
NM_000179.3(MSH6):c.3923T>G (p.Leu1308Arg)
|
rs1670124114
|
|
NM_000179.3(MSH6):c.3926C>A (p.Pro1309Gln)
|
|
|
NM_000179.3(MSH6):c.3926C>T (p.Pro1309Leu)
|
rs1553333601
|
|
NM_000179.3(MSH6):c.3927_3971dup (p.Glu1310_Glu1324dup)
|
rs1670126355
|
|
NM_000179.3(MSH6):c.392T>C (p.Val131Ala)
|
rs1668697788
|
|
NM_000179.3(MSH6):c.3930G>T (p.Glu1310Asp)
|
rs267608129
|
|
NM_000179.3(MSH6):c.3932_3934dup (p.Glu1311dup)
|
rs774984690
|
|
NM_000179.3(MSH6):c.3933_3944dup (p.Lys1315_Gly1316insValIleGlnLys)
|
|
|
NM_000179.3(MSH6):c.3934G>C (p.Val1312Leu)
|
rs1553333634
|
|
NM_000179.3(MSH6):c.3935T>C (p.Val1312Ala)
|
rs2104562596
|
|
NM_000179.3(MSH6):c.3936_3941dup (p.Ile1313_Gln1314insHisIle)
|
rs1553333654
|
|
NM_000179.3(MSH6):c.3936_4001+8dup
|
rs1572747475
|
|
NM_000179.3(MSH6):c.3937A>T (p.Ile1313Phe)
|
rs1558394171
|
|
NM_000179.3(MSH6):c.3938T>A (p.Ile1313Asn)
|
rs762115705
|
|
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup)
|
rs1553333670
|
|
NM_000179.3(MSH6):c.3940C>A (p.Gln1314Lys)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3944A>G (p.Lys1315Arg)
|
rs1558394245
|
|
NM_000179.3(MSH6):c.3945G>C (p.Lys1315Asn)
|
|
|
NM_000179.3(MSH6):c.3946G>A (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
NM_000179.3(MSH6):c.3949C>T (p.His1317Tyr)
|
rs759092293
|
|
NM_000179.3(MSH6):c.394C>G (p.Gln132Glu)
|
rs587782101
|
|
NM_000179.3(MSH6):c.3950A>G (p.His1317Arg)
|
rs2104564078
|
|
NM_000179.3(MSH6):c.3950_3976dup (p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys)
|
rs776322353
|
|
NM_000179.3(MSH6):c.3951T>A (p.His1317Gln)
|
rs764786814
|
|
NM_000179.3(MSH6):c.3951T>G (p.His1317Gln)
|
rs764786814
|
|
NM_000179.3(MSH6):c.3952A>G (p.Arg1318Gly)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3953G>A (p.Arg1318Lys)
|
rs946147823
|
|
NM_000179.3(MSH6):c.3954_3971dup (p.Ala1320_Lys1325dup)
|
rs1670138558
|
|
NM_000179.3(MSH6):c.3956A>C (p.Lys1319Thr)
|
rs876659383
|
|
NM_000179.3(MSH6):c.3956A>G (p.Lys1319Arg)
|
rs876659383
|
|
NM_000179.3(MSH6):c.3956A>T (p.Lys1319Ile)
|
rs876659383
|
|
NM_000179.3(MSH6):c.3958G>A (p.Ala1320Thr)
|
|
|
NM_000179.3(MSH6):c.3958G>C (p.Ala1320Pro)
|
rs376300764
|
|
NM_000179.3(MSH6):c.3958G>T (p.Ala1320Ser)
|
|
|
NM_000179.3(MSH6):c.3959C>A (p.Ala1320Glu)
|
rs1670139654
|
|
NM_000179.3(MSH6):c.3959C>G (p.Ala1320Gly)
|
|
|
NM_000179.3(MSH6):c.3959C>T (p.Ala1320Val)
|
|
|
NM_000179.3(MSH6):c.395A>G (p.Gln132Arg)
|
rs587779298
|
|
NM_000179.3(MSH6):c.3962G>C (p.Arg1321Thr)
|
|
|
NM_000179.3(MSH6):c.3962G>T (p.Arg1321Ile)
|
rs1064795473
|
|
NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)
|
rs267608125
|
|
NM_000179.3(MSH6):c.3964G>C (p.Glu1322Gln)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3965A>G (p.Glu1322Gly)
|
rs763608368
|
|
NM_000179.3(MSH6):c.3967T>G (p.Phe1323Val)
|
rs1572747817
|
|
NM_000179.3(MSH6):c.3968T>A (p.Phe1323Tyr)
|
rs1051564593
|
|
NM_000179.3(MSH6):c.3968T>G (p.Phe1323Cys)
|
rs1051564593
|
|
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)
|
rs1057520473
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
|
NM_000179.3(MSH6):c.3970G>A (p.Glu1324Lys)
|
rs540890590
|
|
NM_000179.3(MSH6):c.3971A>C (p.Glu1324Ala)
|
rs1114167738
|
|
NM_000179.3(MSH6):c.3971A>G (p.Glu1324Gly)
|
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3974A>C (p.Lys1325Thr)
|
rs876658189
|
|
NM_000179.3(MSH6):c.3974A>T (p.Lys1325Met)
|
rs876658189
|
|
NM_000179.3(MSH6):c.3976A>C (p.Met1326Leu)
|
rs587779939
|
|
NM_000179.3(MSH6):c.3976A>T (p.Met1326Leu)
|
rs587779939
|
|
NM_000179.3(MSH6):c.3977T>G (p.Met1326Arg)
|
rs757089977
|
|
NM_000179.3(MSH6):c.3977_3979dup (p.Met1326dup)
|
rs1670146869
|
|
NM_000179.3(MSH6):c.3978G>C (p.Met1326Ile)
|
rs141464646
|
|
NM_000179.3(MSH6):c.3978G>T (p.Met1326Ile)
|
rs141464646
|
|
NM_000179.3(MSH6):c.3978_3995dup (p.Asn1327_Leu1332dup)
|
rs1553333731
|
|
NM_000179.3(MSH6):c.3979_4001+1dup
|
rs1558394580
|
|
NM_000179.3(MSH6):c.3980A>C (p.Asn1327Thr)
|
|
|
NM_000179.3(MSH6):c.3983A>C (p.Gln1328Pro)
|
rs587779940
|
|
NM_000179.3(MSH6):c.3983A>T (p.Gln1328Leu)
|
rs587779940
|
|
NM_000179.3(MSH6):c.3984G>C (p.Gln1328His)
|
|
|
NM_000179.3(MSH6):c.3985T>A (p.Ser1329Thr)
|
|
|
NM_000179.3(MSH6):c.3985T>C (p.Ser1329Pro)
|
|
|
NM_000179.3(MSH6):c.3988C>A (p.Leu1330Ile)
|
rs768944975
|
|
NM_000179.3(MSH6):c.3991C>G (p.Arg1331Gly)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
NM_000179.3(MSH6):c.3992G>C (p.Arg1331Pro)
|
|
|
NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)
|
rs184131049
|
|
NM_000179.3(MSH6):c.3993ATT[3] (p.Leu1332dup)
|
rs2104567877
|
|
NM_000179.3(MSH6):c.3994T>A (p.Leu1332Ile)
|
rs786204160
|
|
NM_000179.3(MSH6):c.3994T>G (p.Leu1332Val)
|
rs786204160
|
|
NM_000179.3(MSH6):c.3995T>C (p.Leu1332Ser)
|
rs2104568015
|
|
NM_000179.3(MSH6):c.3997T>C (p.Phe1333Leu)
|
rs2104568183
|
|
NM_000179.3(MSH6):c.3999T>G (p.Phe1333Leu)
|
|
|
NM_000179.3(MSH6):c.3del (p.Met1fs)
|
rs1553408068
|
|
NM_000179.3(MSH6):c.4000C>A (p.Arg1334=)
|
rs773763465
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+3A>C
|
rs1670156041
|
|
NM_000179.3(MSH6):c.4001+42_4001+44dup
|
rs926031657
|
|
NM_000179.3(MSH6):c.4001+5C>G
|
rs786202305
|
|
NM_000179.3(MSH6):c.4001+5C>T
|
rs786202305
|
|
NM_000179.3(MSH6):c.4001+5_4001+25dup
|
|
|
NM_000179.3(MSH6):c.4001+5_4001+6insAGTTA
|
|
|
NM_000179.3(MSH6):c.4001+6T>C
|
rs1670157898
|
|
NM_000179.3(MSH6):c.4001+9_4001+10insCTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGAAACAGTAAAAGGGGAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
|
|
|
NM_000179.3(MSH6):c.4001+9_4002-12dup
|
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
NM_000179.3(MSH6):c.4002-18_4002-4del
|
|
|
NM_000179.3(MSH6):c.4002-1_4010dup
|
rs1572749857
|
|
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG
|
rs878853744
|
|
NM_000179.3(MSH6):c.4002-22_4002-4del
|
rs587779310
|
|
NM_000179.3(MSH6):c.4002-23_4002-4del
|
|
|
NM_000179.3(MSH6):c.4002-24_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-3A>C
|
rs1435779670
|
|
NM_000179.3(MSH6):c.4002-4_4020dup
|
rs2104577963
|
|
NM_000179.3(MSH6):c.4002-54_4004del
|
rs2104572568
|
|
NM_000179.3(MSH6):c.4002-5T>A
|
|
|
NM_000179.3(MSH6):c.4002-5T>G
|
rs1060502872
|
|
NM_000179.3(MSH6):c.4002-6T>G
|
rs2104577757
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
NM_000179.3(MSH6):c.4002-7_4029dup
|
|
|
NM_000179.3(MSH6):c.4002-8A>G
|
rs778957100
|
|
NM_000179.3(MSH6):c.4002-9_4002-7del
|
rs864622105
|
|
NM_000179.3(MSH6):c.4002_4023dup (p.Arg1342delinsGlySerLeuProGlyTer)
|
rs2104578677
|
|
NM_000179.3(MSH6):c.4003G>C (p.Glu1335Gln)
|
rs1572749872
|
|
NM_000179.3(MSH6):c.4003G>T (p.Glu1335Ter)
|
|
|
NM_000179.3(MSH6):c.4003_4019dup (p.Ser1340fs)
|
rs1670207545
|
|
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)
|
rs876658497
|
|
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs)
|
rs1670208407
|
|
NM_000179.3(MSH6):c.4006G>A (p.Val1336Ile)
|
rs771181616
|
|
NM_000179.3(MSH6):c.4006G>C (p.Val1336Leu)
|
rs771181616
|
|
NM_000179.3(MSH6):c.4006_4008dup (p.Val1336dup)
|
rs2104579268
|
|
NM_000179.3(MSH6):c.4007T>G (p.Val1336Gly)
|
rs1558395526
|
|
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs)
|
rs1553333981
|
|
NM_000179.3(MSH6):c.4009del (p.Cys1337fs)
|
|
|
NM_000179.3(MSH6):c.4010G>C (p.Cys1337Ser)
|
|
|
NM_000179.3(MSH6):c.4011C>G (p.Cys1337Trp)
|
|
|
NM_000179.3(MSH6):c.4011_4019dup (p.Leu1338_Ser1340dup)
|
rs959068333
|
|
NM_000179.3(MSH6):c.4011_4021dup (p.Glu1341fs)
|
|
|
NM_000179.3(MSH6):c.4014G>A (p.Leu1338=)
|
|
|
NM_000179.3(MSH6):c.4015_4021dup (p.Glu1341delinsGlyTer)
|
rs1670210490
|
|
NM_000179.3(MSH6):c.4015_4023dup (p.Ala1339_Glu1341dup)
|
rs1670210843
|
|
NM_000179.3(MSH6):c.4015_4033del (p.Leu1338_Ala1339insTer)
|
rs1558395566
|
|
NM_000179.3(MSH6):c.4016C>T (p.Ala1339Val)
|
rs528399386
|
|
NM_000179.3(MSH6):c.4016_4068dup (p.Ile1357delinsLeuValLysGlyGlnLeuTer)
|
rs1670211088
|
|
NM_000179.3(MSH6):c.4018_4032del (p.Ser1340_Thr1344del)
|
rs1553333998
|
|
NM_000179.3(MSH6):c.4019G>T (p.Ser1340Ile)
|
|
|
NM_000179.3(MSH6):c.4020T>G (p.Ser1340Arg)
|
rs1558395612
|
|
NM_000179.3(MSH6):c.4021G>C (p.Glu1341Gln)
|
|
|
NM_000179.3(MSH6):c.4021_4027del (p.Glu1341fs)
|
|
|
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer)
|
rs1553334006
|
|
NM_000179.3(MSH6):c.4024_4044del (p.Arg1342_Glu1348del)
|
rs1064792973
|
|
NM_000179.3(MSH6):c.4025_4069dup (p.Arg1342_Leu1356dup)
|
rs1670213430
|
|
NM_000179.3(MSH6):c.4027T>C (p.Ser1343Pro)
|
rs1670214006
|
|
NM_000179.3(MSH6):c.4027_4028del (p.Ser1343fs)
|
rs1572750047
|
|
NM_000179.3(MSH6):c.4028_4041dup (p.Glu1348delinsGlnLeuTer)
|
rs2104581679
|
|
NM_000179.3(MSH6):c.4029_*13dup (p.Ser1343_Ter1361=)
|
rs1670214702
|
|
NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup)
|
rs772655560
|
|
NM_000179.3(MSH6):c.4029_4032dup (p.Val1345fs)
|
|
|
NM_000179.3(MSH6):c.4030A>G (p.Thr1344Ala)
|
rs1553334019
|
|
NM_000179.3(MSH6):c.4031C>A (p.Thr1344Asn)
|
rs1572750070
|
|
NM_000179.3(MSH6):c.4031C>T (p.Thr1344Ile)
|
rs1572750070
|
|
NM_000179.3(MSH6):c.4033_4034del (p.Val1345fs)
|
|
|
NM_000179.3(MSH6):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000179.3(MSH6):c.4034T>G (p.Val1345Gly)
|
rs1670215600
|
|
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)
|
rs864622703
|
|
NM_000179.3(MSH6):c.4035_4041del (p.Asp1346fs)
|
rs2104582221
|
|
NM_000179.3(MSH6):c.4036_4049dup (p.His1351fs)
|
|
|
NM_000179.3(MSH6):c.4037A>C (p.Asp1346Ala)
|
rs1456961917
|
|
NM_000179.3(MSH6):c.4037A>G (p.Asp1346Gly)
|
rs1456961917
|
|
NM_000179.3(MSH6):c.4038T>A (p.Asp1346Glu)
|
rs2104582429
|
|
NM_000179.3(MSH6):c.403G>C (p.Asp135His)
|
rs1668699343
|
|
NM_000179.3(MSH6):c.4042G>A (p.Glu1348Lys)
|
rs1670216733
|
|
NM_000179.3(MSH6):c.4043A>T (p.Glu1348Val)
|
rs1449733937
|
|
NM_000179.3(MSH6):c.4043_*13dup (p.Ala1347_Ter1361=)
|
|
|
NM_000179.3(MSH6):c.4044A>C (p.Glu1348Asp)
|
rs786203740
|
|
NM_000179.3(MSH6):c.4045G>T (p.Ala1349Ser)
|
rs1670217544
|
|
NM_000179.3(MSH6):c.4048G>A (p.Val1350Ile)
|
rs772707858
|
|
NM_000179.3(MSH6):c.4048G>C (p.Val1350Leu)
|
rs772707858
|
|
NM_000179.3(MSH6):c.4049T>A (p.Val1350Asp)
|
rs1670218093
|
|
NM_000179.3(MSH6):c.4051C>A (p.His1351Asn)
|
rs1558395737
|
|
NM_000179.3(MSH6):c.4051C>T (p.His1351Tyr)
|
rs1558395737
|
|
NM_000179.3(MSH6):c.4051_4069dup (p.Ile1357delinsThrTer)
|
|
|
NM_000179.3(MSH6):c.4052A>C (p.His1351Pro)
|
|
|
NM_000179.3(MSH6):c.4052A>T (p.His1351Leu)
|
rs1325140069
|
|
NM_000179.3(MSH6):c.4053_4072dup (p.Lys1358delinsIleAsnCysTer)
|
rs2104583465
|
|
NM_000179.3(MSH6):c.4054A>G (p.Lys1352Glu)
|
rs587782309
|
|
NM_000179.3(MSH6):c.4055_4057dup (p.Leu1353Ter)
|
rs2104583736
|
|
NM_000179.3(MSH6):c.4057T>G (p.Leu1353Val)
|
rs2104583838
|
|
NM_000179.3(MSH6):c.4059G>C (p.Leu1353Phe)
|
rs1553334048
|
|
NM_000179.3(MSH6):c.405T>A (p.Asp135Glu)
|
rs1230586400
|
|
NM_000179.3(MSH6):c.4060C>G (p.Leu1354Val)
|
rs1057521054
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
NM_000179.3(MSH6):c.4064_4065insGTCA (p.Leu1356fs)
|
rs267608141
|
|
NM_000179.3(MSH6):c.4066_4067dup (p.Leu1356fs)
|
|
|
NM_000179.3(MSH6):c.4067_*27dup (p.Leu1356_Ter1361=)
|
rs2104584852
|
|
NM_000179.3(MSH6):c.4067_4071dup (p.Lys1358Ter)
|
|
|
NM_000179.3(MSH6):c.4067dup (p.Leu1356fs)
|
|
|
NM_000179.3(MSH6):c.4068_*22dup (p.Leu1356_Ter1361=)
|
rs1204768952
|
|
NM_000179.3(MSH6):c.4068_4071del (p.Ile1357fs)
|
rs55740729
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.4068_4072dup (p.Lys1358fs)
|
|
|
NM_000179.3(MSH6):c.4068dup (p.Ile1357fs)
|
rs2104584954
|
|
NM_000179.3(MSH6):c.4069A>C (p.Ile1357Leu)
|
|
|
NM_000179.3(MSH6):c.4069A>G (p.Ile1357Val)
|
rs2104585148
|
|
NM_000179.3(MSH6):c.406G>A (p.Asp136Asn)
|
rs2104108904
|
|
NM_000179.3(MSH6):c.4070T>C (p.Ile1357Thr)
|
|
|
NM_000179.3(MSH6):c.4070T>G (p.Ile1357Ser)
|
rs1209834047
|
|
NM_000179.3(MSH6):c.4070_*16del (p.Ile1357_Ter1361delinsXaa)
|
rs1670225485
|
|
NM_000179.3(MSH6):c.4070_*23del (p.Ile1357fs)
|
|
|
NM_000179.3(MSH6):c.4070_*5del (p.Ile1357fs)
|
rs1572750348
|
|
NM_000179.3(MSH6):c.4071T>G (p.Ile1357Met)
|
rs1553334107
|
|
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)
|
rs199739099
|
|
NM_000179.3(MSH6):c.4072_*12del (p.Lys1358_Ter1361del)
|
rs1553334099
|
|
NM_000179.3(MSH6):c.4072_4074del (p.Lys1358del)
|
|
|
NM_000179.3(MSH6):c.4073A>G (p.Lys1358Arg)
|
rs1553334111
|
|
NM_000179.3(MSH6):c.4073_*33dup (p.Lys1358_Ter1361=)
|
rs1289787991
|
|
NM_000179.3(MSH6):c.4073_4080dup (p.Ter1361ArgextTer?)
|
rs587782547
|
|
NM_000179.3(MSH6):c.4073_4082del (p.Lys1358fs)
|
rs1670226421
|
|
NM_000179.3(MSH6):c.4073dup (p.Glu1359fs)
|
rs2104585660
|
|
NM_000179.3(MSH6):c.4074G>C (p.Lys1358Asn)
|
rs759392159
|
|
NM_000179.3(MSH6):c.4074G>T (p.Lys1358Asn)
|
rs759392159
|
|
NM_000179.3(MSH6):c.4074_*5del (p.Lys1358_Ter1361delinsXaa)
|
|
|
NM_000179.3(MSH6):c.4075G>A (p.Glu1359Lys)
|
rs267608081
|
|
NM_000179.3(MSH6):c.4077A>T (p.Glu1359Asp)
|
rs2104586029
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.4079T>C (p.Leu1360Ser)
|
|
|
NM_000179.3(MSH6):c.4079_*9dup (p.Leu1360_Ter1361=)
|
rs1670228993
|
|
NM_000179.3(MSH6):c.4079_4081dup (p.Leu1360dup)
|
rs1553334041
|
|
NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)
|
rs863224830
|
|
NM_000179.3(MSH6):c.4081dup (p.Ter1361LeuextTer?)
|
rs1060502898
|
|
NM_000179.3(MSH6):c.4082A>T (p.Ter1361Leu)
|
rs907892681
|
|
NM_000179.3(MSH6):c.4082_*11del (p.Ter1361LeuextTer?)
|
rs1064794082
|
|
NM_000179.3(MSH6):c.4082_*8dup (p.Ter1361=)
|
rs2104586653
|
|
NM_000179.3(MSH6):c.4083G>C (p.Ter1361Tyr)
|
rs1553334125
|
|
NM_000179.3(MSH6):c.4083GACT[1] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.408C>G (p.Asp136Glu)
|
rs878853746
|
|
NM_000179.3(MSH6):c.409A>T (p.Ser137Cys)
|
|
|
NM_000179.3(MSH6):c.410G>A (p.Ser137Asn)
|
|
|
NM_000179.3(MSH6):c.410G>T (p.Ser137Ile)
|
rs1668699972
|
|
NM_000179.3(MSH6):c.412C>T (p.Pro138Ser)
|
rs1668700091
|
|
NM_000179.3(MSH6):c.415A>G (p.Thr139Ala)
|
rs991924818
|
|
NM_000179.3(MSH6):c.416C>T (p.Thr139Ile)
|
rs1443147770
|
|
NM_000179.3(MSH6):c.419G>A (p.Arg140Lys)
|
|
|
NM_000179.3(MSH6):c.419G>T (p.Arg140Met)
|
rs876661293
|
|
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)
|
rs863224628
|
|
NM_000179.3(MSH6):c.422G>A (p.Gly141Asp)
|
rs2104110549
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
NM_000179.3(MSH6):c.424T>A (p.Trp142Arg)
|
|
|
NM_000179.3(MSH6):c.428T>G (p.Val143Gly)
|
rs1324188451
|
|
NM_000179.3(MSH6):c.42_43delinsAA (p.Pro15Thr)
|
rs1668112441
|
|
NM_000179.3(MSH6):c.430A>G (p.Ser144Gly)
|
rs1668701906
|
|
NM_000179.3(MSH6):c.431G>C (p.Ser144Thr)
|
|
|
NM_000179.3(MSH6):c.434A>G (p.Lys145Arg)
|
|
|
NM_000179.3(MSH6):c.437G>A (p.Arg146Lys)
|
rs1553410372
|
|
NM_000179.3(MSH6):c.438G>C (p.Arg146Ser)
|
rs2104111549
|
|
NM_000179.3(MSH6):c.439C>T (p.Leu147Phe)
|
rs2104111618
|
|
NM_000179.3(MSH6):c.43C>G (p.Pro15Ala)
|
rs776745497
|
|
NM_000179.3(MSH6):c.440T>G (p.Leu147Arg)
|
|
|
NM_000179.3(MSH6):c.445A>C (p.Lys149Gln)
|
rs1668702984
|
|
NM_000179.3(MSH6):c.447G>C (p.Lys149Asn)
|
rs1553410379
|
|
NM_000179.3(MSH6):c.448C>G (p.Pro150Ala)
|
|
|
NM_000179.3(MSH6):c.448C>T (p.Pro150Ser)
|
rs587782406
|
|
NM_000179.3(MSH6):c.449C>T (p.Pro150Leu)
|
rs757311007
|
|
NM_000179.3(MSH6):c.451T>A (p.Tyr151Asn)
|
rs1060502904
|
|
NM_000179.3(MSH6):c.452A>G (p.Tyr151Cys)
|
|
|
NM_000179.3(MSH6):c.455C>A (p.Thr152Lys)
|
rs1553410385
|
|
NM_000179.3(MSH6):c.455C>T (p.Thr152Ile)
|
rs1553410385
|
|
NM_000179.3(MSH6):c.457+2dup
|
rs876661224
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
NM_000179.3(MSH6):c.457+6A>T
|
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-3T>A
|
rs1558656394
|
|
NM_000179.3(MSH6):c.458-3T>G
|
rs1558656394
|
|
NM_000179.3(MSH6):c.458G>C (p.Gly153Ala)
|
rs1251899870
|
|
NM_000179.3(MSH6):c.458G>T (p.Gly153Val)
|
rs1251899870
|
|
NM_000179.3(MSH6):c.460T>C (p.Ser154Pro)
|
rs1669051626
|
|
NM_000179.3(MSH6):c.463A>C (p.Lys155Gln)
|
rs1276159036
|
|
NM_000179.3(MSH6):c.463A>G (p.Lys155Glu)
|
rs1276159036
|
|
NM_000179.3(MSH6):c.466T>G (p.Ser156Ala)
|
|
|
NM_000179.3(MSH6):c.467C>T (p.Ser156Leu)
|
rs63749873
|
|
NM_000179.3(MSH6):c.469A>C (p.Lys157Gln)
|
rs1572716094
|
|
NM_000179.3(MSH6):c.469A>G (p.Lys157Glu)
|
rs1572716094
|
|
NM_000179.3(MSH6):c.46G>A (p.Ala16Thr)
|
|
|
NM_000179.3(MSH6):c.470A>G (p.Lys157Arg)
|
|
|
NM_000179.3(MSH6):c.470A>T (p.Lys157Met)
|
rs1060502923
|
|
NM_000179.3(MSH6):c.473A>G (p.Glu158Gly)
|
rs1669052883
|
|
NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)
|
rs1553411396
|
|
NM_000179.3(MSH6):c.475G>T (p.Ala159Ser)
|
rs1553411396
|
|
NM_000179.3(MSH6):c.476C>G (p.Ala159Gly)
|
rs587778528
|
|
NM_000179.3(MSH6):c.479A>C (p.Gln160Pro)
|
rs1553411397
|
|
NM_000179.3(MSH6):c.479A>G (p.Gln160Arg)
|
rs1553411397
|
|
NM_000179.3(MSH6):c.479A>T (p.Gln160Leu)
|
rs1553411397
|
|
NM_000179.3(MSH6):c.47C>A (p.Ala16Glu)
|
rs759501511
|
|
NM_000179.3(MSH6):c.481A>G (p.Lys161Glu)
|
|
|
NM_000179.3(MSH6):c.484G>A (p.Gly162Arg)
|
rs1183989693
|
|
NM_000179.3(MSH6):c.484G>C (p.Gly162Arg)
|
|
|
NM_000179.3(MSH6):c.485G>A (p.Gly162Glu)
|
|
|
NM_000179.3(MSH6):c.485G>C (p.Gly162Ala)
|
rs876660583
|
|
NM_000179.3(MSH6):c.487G>T (p.Gly163Cys)
|
rs776065389
|
|
NM_000179.3(MSH6):c.490C>A (p.His164Asn)
|
|
|
NM_000179.3(MSH6):c.490C>G (p.His164Asp)
|
rs568685193
|
|
NM_000179.3(MSH6):c.490C>T (p.His164Tyr)
|
|
|
NM_000179.3(MSH6):c.491A>G (p.His164Arg)
|
|
|
NM_000179.3(MSH6):c.496T>C (p.Tyr166His)
|
|
|
NM_000179.3(MSH6):c.496_497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTATTTTAAGGGAGGTCATTTTT (p.Phe165_Tyr166insPhePhePhePhePhePhePhePhePhePhePheLeuPhePhePheIlePheTyrPheLysGlyGlyHisPhe)
|
|
|
NM_000179.3(MSH6):c.497A>G (p.Tyr166Cys)
|
rs1669056194
|
|
NM_000179.3(MSH6):c.499A>C (p.Ser167Arg)
|
|
|
NM_000179.3(MSH6):c.499A>G (p.Ser167Gly)
|
rs2104231027
|
|
NM_000179.3(MSH6):c.49C>G (p.Leu17Val)
|
|
|
NM_000179.3(MSH6):c.500G>A (p.Ser167Asn)
|
|
|
NM_000179.3(MSH6):c.500G>C (p.Ser167Thr)
|
rs1669056436
|
|
NM_000179.3(MSH6):c.502G>A (p.Ala168Thr)
|
|
|
NM_000179.3(MSH6):c.503C>T (p.Ala168Val)
|
rs774162322
|
|
NM_000179.3(MSH6):c.505A>G (p.Lys169Glu)
|
rs761721805
|
|
NM_000179.3(MSH6):c.507_508delinsTA (p.Lys169_Pro170delinsAsnThr)
|
rs2104231712
|
|
NM_000179.3(MSH6):c.508C>T (p.Pro170Ser)
|
rs878853748
|
|
NM_000179.3(MSH6):c.50T>C (p.Leu17Pro)
|
rs1553408119
|
|
NM_000179.3(MSH6):c.511G>A (p.Glu171Lys)
|
rs1558656518
|
|
NM_000179.3(MSH6):c.513A>G (p.Glu171=)
|
rs786201116
|
|
NM_000179.3(MSH6):c.514A>G (p.Ile172Val)
|
|
|
NM_000179.3(MSH6):c.515T>A (p.Ile172Lys)
|
|
|
NM_000179.3(MSH6):c.515T>C (p.Ile172Thr)
|
rs587779942
|
|
NM_000179.3(MSH6):c.517C>G (p.Leu173Val)
|
rs1553411421
|
|
NM_000179.3(MSH6):c.520A>G (p.Arg174Gly)
|
rs1405000889
|
|
NM_000179.3(MSH6):c.523G>A (p.Ala175Thr)
|
|
|
NM_000179.3(MSH6):c.524C>A (p.Ala175Glu)
|
rs1060502929
|
|
NM_000179.3(MSH6):c.524C>G (p.Ala175Gly)
|
rs1060502929
|
|
NM_000179.3(MSH6):c.526A>T (p.Met176Leu)
|
rs750327994
|
|
NM_000179.3(MSH6):c.527T>C (p.Met176Thr)
|
rs1553411432
|
|
NM_000179.3(MSH6):c.52A>C (p.Ser18Arg)
|
rs1553408122
|
|
NM_000179.3(MSH6):c.531A>T (p.Gln177His)
|
rs886056142
|
|
NM_000179.3(MSH6):c.532C>A (p.Arg178Ser)
|
rs730881813
|
|
NM_000179.3(MSH6):c.532C>G (p.Arg178Gly)
|
|
|
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser)
|
rs587781817
|
|
NM_000179.3(MSH6):c.538G>A (p.Asp180Asn)
|
rs1553411440
|
|
NM_000179.3(MSH6):c.538G>C (p.Asp180His)
|
|
|
NM_000179.3(MSH6):c.53G>A (p.Ser18Asn)
|
|
|
NM_000179.3(MSH6):c.540T>A (p.Asp180Glu)
|
rs1800935
|
|
NM_000179.3(MSH6):c.540T>G (p.Asp180Glu)
|
rs1800935
|
|
NM_000179.3(MSH6):c.540_541inv (p.Glu181Lys)
|
|
|
NM_000179.3(MSH6):c.542A>T (p.Glu181Val)
|
rs1558656620
|
|
NM_000179.3(MSH6):c.544G>T (p.Ala182Ser)
|
|
|
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)
|
rs876659786
|
|
NM_000179.3(MSH6):c.551A>G (p.Asn184Ser)
|
rs1669062226
|
|
NM_000179.3(MSH6):c.552T>G (p.Asn184Lys)
|
rs786203679
|
|
NM_000179.3(MSH6):c.553A>G (p.Lys185Glu)
|
rs193922344
|
|
NM_000179.3(MSH6):c.554A>T (p.Lys185Ile)
|
rs2104235423
|
|
NM_000179.3(MSH6):c.554_562dup (p.Lys187_Ile188insLysAspLys)
|
|
|
NM_000179.3(MSH6):c.555A>C (p.Lys185Asn)
|
rs1558656651
|
|
NM_000179.3(MSH6):c.556G>C (p.Asp186His)
|
rs1212607928
|
|
NM_000179.3(MSH6):c.556G>T (p.Asp186Tyr)
|
rs1212607928
|
|
NM_000179.3(MSH6):c.55_56delinsTT (p.Asp19Phe)
|
rs1572697844
|
|
NM_000179.3(MSH6):c.560A>G (p.Lys187Arg)
|
rs1553411459
|
|
NM_000179.3(MSH6):c.562A>T (p.Ile188Phe)
|
rs1669063357
|
|
NM_000179.3(MSH6):c.564T>G (p.Ile188Met)
|
rs1558656660
|
|
NM_000179.3(MSH6):c.566A>G (p.Lys189Arg)
|
rs1060502889
|
|
NM_000179.3(MSH6):c.567G>C (p.Lys189Asn)
|
rs2104236539
|
|
NM_000179.3(MSH6):c.569G>A (p.Arg190Lys)
|
|
|
NM_000179.3(MSH6):c.56A>G (p.Asp19Gly)
|
rs1553408133
|
|
NM_000179.3(MSH6):c.571C>T (p.Leu191Phe)
|
rs1669064280
|
|
NM_000179.3(MSH6):c.577T>G (p.Leu193Val)
|
rs587779944
|
|
NM_000179.3(MSH6):c.57T>A (p.Asp19Glu)
|
rs752794296
|
|
NM_000179.3(MSH6):c.581C>G (p.Ala194Gly)
|
rs1558656693
|
|
NM_000179.3(MSH6):c.581C>T (p.Ala194Val)
|
rs1558656693
|
|
NM_000179.3(MSH6):c.583G>C (p.Val195Leu)
|
rs267608038
|
|
NM_000179.3(MSH6):c.584T>A (p.Val195Asp)
|
rs1553411480
|
|
NM_000179.3(MSH6):c.587G>A (p.Cys196Tyr)
|
rs78939940
|
|
NM_000179.3(MSH6):c.587G>T (p.Cys196Phe)
|
rs78939940
|
|
NM_000179.3(MSH6):c.589G>A (p.Asp197Asn)
|
rs148517241
|
|
NM_000179.3(MSH6):c.589G>C (p.Asp197His)
|
rs148517241
|
|
NM_000179.3(MSH6):c.590A>T (p.Asp197Val)
|
|
|
NM_000179.3(MSH6):c.592G>A (p.Glu198Lys)
|
rs1553411490
|
|
NM_000179.3(MSH6):c.599C>T (p.Ser200Leu)
|
|
|
NM_000179.3(MSH6):c.604C>G (p.Pro202Ala)
|
rs1064794301
|
|
NM_000179.3(MSH6):c.604_612del (p.Pro202_Glu204del)
|
rs1669066494
|
|
NM_000179.3(MSH6):c.605C>G (p.Pro202Arg)
|
rs367644746
|
|
NM_000179.3(MSH6):c.609A>T (p.Glu203Asp)
|
rs536686679
|
|
NM_000179.3(MSH6):c.610G>C (p.Glu204Gln)
|
|
|
NM_000179.3(MSH6):c.613G>A (p.Glu205Lys)
|
rs1669067746
|
|
NM_000179.3(MSH6):c.615A>C (p.Glu205Asp)
|
rs1334827373
|
|
NM_000179.3(MSH6):c.618A>C (p.Glu206Asp)
|
|
|
NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)
|
rs1223476490
|
|
NM_000179.3(MSH6):c.621G>C (p.Glu207Asp)
|
rs1553411509
|
|
NM_000179.3(MSH6):c.621G>T (p.Glu207Asp)
|
rs1553411509
|
|
NM_000179.3(MSH6):c.622A>G (p.Met208Val)
|
rs369058374
|
|
NM_000179.3(MSH6):c.625G>A (p.Glu209Lys)
|
|
|
NM_000179.3(MSH6):c.625G>C (p.Glu209Gln)
|
rs747477669
|
|
NM_000179.3(MSH6):c.627+11G>A
|
|
|
NM_000179.3(MSH6):c.627+12C>T
|
|
|
NM_000179.3(MSH6):c.627+14A>C
|
|
|
NM_000179.3(MSH6):c.627+26_627+37del
|
rs1558656848
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
NM_000179.3(MSH6):c.627+3G>C
|
rs876659495
|
|
NM_000179.3(MSH6):c.627+4G>A
|
|
|
NM_000179.3(MSH6):c.627+4G>C
|
|
|
NM_000179.3(MSH6):c.627+5G>A
|
rs2104241590
|
|
NM_000179.3(MSH6):c.627+5G>C
|
rs2104241590
|
|
NM_000179.3(MSH6):c.627+6A>T
|
rs1572716556
|
|
NM_000179.3(MSH6):c.628-13C>G
|
rs538280815
|
|
NM_000179.3(MSH6):c.628G>A (p.Val210Ile)
|
|
|
NM_000179.3(MSH6):c.628G>C (p.Val210Leu)
|
|
|
NM_000179.3(MSH6):c.628G>T (p.Val210Leu)
|
rs936063254
|
|
NM_000179.3(MSH6):c.629T>C (p.Val210Ala)
|
rs201431515
|
|
NM_000179.3(MSH6):c.62A>G (p.Asn21Ser)
|
rs267608025
|
|
NM_000179.3(MSH6):c.631G>A (p.Gly211Ser)
|
rs786204153
|
|
NM_000179.3(MSH6):c.632G>A (p.Gly211Asp)
|
rs2104287413
|
|
NM_000179.3(MSH6):c.632G>T (p.Gly211Val)
|
|
|
NM_000179.3(MSH6):c.633C>T (p.Gly211=)
|
rs1572719729
|
|
NM_000179.3(MSH6):c.635C>T (p.Thr212Ile)
|
rs876659637
|
|
NM_000179.3(MSH6):c.638C>G (p.Thr213Ser)
|
rs2104287733
|
|
NM_000179.3(MSH6):c.639_647del (p.Tyr214_Thr216del)
|
rs1553412048
|
|
NM_000179.3(MSH6):c.63C>G (p.Asn21Lys)
|
rs876660097
|
|
NM_000179.3(MSH6):c.640_642del (p.Tyr214del)
|
rs2104287851
|
|
NM_000179.3(MSH6):c.642_643delinsTA (p.Val215Ile)
|
rs1669239621
|
|
NM_000179.3(MSH6):c.643G>T (p.Val215Leu)
|
rs145959653
|
|
NM_000179.3(MSH6):c.646A>G (p.Thr216Ala)
|
|
|
NM_000179.3(MSH6):c.648_649delinsTT (p.Asp217Tyr)
|
rs63750471
|
|
NM_000179.3(MSH6):c.649G>C (p.Asp217His)
|
rs950036621
|
|
NM_000179.3(MSH6):c.64A>C (p.Lys22Gln)
|
rs1060502897
|
|
NM_000179.3(MSH6):c.64A>G (p.Lys22Glu)
|
rs1060502897
|
|
NM_000179.3(MSH6):c.650A>T (p.Asp217Val)
|
|
|
NM_000179.3(MSH6):c.657T>A (p.Ser219Arg)
|
rs1460925251
|
|
NM_000179.3(MSH6):c.658G>A (p.Glu220Lys)
|
rs1669242062
|
|
NM_000179.3(MSH6):c.659A>C (p.Glu220Ala)
|
rs764478569
|
|
NM_000179.3(MSH6):c.65A>C (p.Lys22Thr)
|
rs1668115116
|
|
NM_000179.3(MSH6):c.660AGA[1] (p.Glu221del)
|
rs1669242170
|
|
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del)
|
rs1553412079
|
|
NM_000179.3(MSH6):c.663_664insTCA (p.Glu221_Asp222insSer)
|
|
|
NM_000179.3(MSH6):c.664G>A (p.Asp222Asn)
|
|
|
NM_000179.3(MSH6):c.664G>C (p.Asp222His)
|
rs1669243103
|
|
NM_000179.3(MSH6):c.664G>T (p.Asp222Tyr)
|
|
|
NM_000179.3(MSH6):c.665A>T (p.Asp222Val)
|
rs750827951
|
|
NM_000179.3(MSH6):c.666T>A (p.Asp222Glu)
|
rs1572719886
|
|
NM_000179.3(MSH6):c.668A>C (p.Asn223Thr)
|
|
|
NM_000179.3(MSH6):c.670G>A (p.Glu224Lys)
|
rs1060502933
|
|
NM_000179.3(MSH6):c.670G>C (p.Glu224Gln)
|
|
|
NM_000179.3(MSH6):c.671A>C (p.Glu224Ala)
|
|
|
NM_000179.3(MSH6):c.672_698del (p.Glu224_Pro233delinsAsp)
|
|
|
NM_000179.3(MSH6):c.673A>G (p.Ile225Val)
|
|
|
NM_000179.3(MSH6):c.673A>T (p.Ile225Phe)
|
|
|
NM_000179.3(MSH6):c.674T>G (p.Ile225Ser)
|
rs1553412096
|
|
NM_000179.3(MSH6):c.675T>G (p.Ile225Met)
|
rs572317219
|
|
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)
|
rs587781777
|
|
NM_000179.3(MSH6):c.679A>G (p.Ser227Gly)
|
rs786202905
|
|
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)
|
rs730881810
|
|
NM_000179.3(MSH6):c.67G>T (p.Ala23Ser)
|
rs730881810
|
|
NM_000179.3(MSH6):c.680G>T (p.Ser227Ile)
|
rs587779317
|
|
NM_000179.3(MSH6):c.681T>G (p.Ser227Arg)
|
rs2104290784
|
|
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)
|
rs587779947
|
|
NM_000179.3(MSH6):c.683A>G (p.Glu228Gly)
|
|
|
NM_000179.3(MSH6):c.683A>T (p.Glu228Val)
|
|
|
NM_000179.3(MSH6):c.686A>G (p.Glu229Gly)
|
rs587782591
|
|
NM_000179.3(MSH6):c.689A>C (p.Glu230Ala)
|
rs2104291254
|
|
NM_000179.3(MSH6):c.68C>A (p.Ala23Asp)
|
rs1060502912
|
|
NM_000179.3(MSH6):c.68C>G (p.Ala23Gly)
|
rs1060502912
|
|
NM_000179.3(MSH6):c.68C>T (p.Ala23Val)
|
rs1060502912
|
|
NM_000179.3(MSH6):c.691G>A (p.Val231Ile)
|
rs1572719960
|
|
NM_000179.3(MSH6):c.691G>C (p.Val231Leu)
|
rs1572719960
|
|
NM_000179.3(MSH6):c.694C>G (p.Gln232Glu)
|
rs587779318
|
|
NM_000179.3(MSH6):c.697C>T (p.Pro233Ser)
|
rs2104291771
|
|
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)
|
rs142949377
|
|
NM_000179.3(MSH6):c.698C>T (p.Pro233Leu)
|
rs142949377
|
|
NM_000179.3(MSH6):c.703A>G (p.Thr235Ala)
|
rs1669246481
|
|
NM_000179.3(MSH6):c.704C>G (p.Thr235Arg)
|
rs1553412133
|
|
NM_000179.3(MSH6):c.706C>A (p.Gln236Lys)
|
rs63750996
|
|
NM_000179.3(MSH6):c.706C>G (p.Gln236Glu)
|
rs63750996
|
|
NM_000179.3(MSH6):c.707A>G (p.Gln236Arg)
|
rs1669246932
|
|
NM_000179.3(MSH6):c.708A>C (p.Gln236His)
|
rs1322117538
|
|
NM_000179.3(MSH6):c.709G>A (p.Gly237Arg)
|
rs1424907900
|
|
NM_000179.3(MSH6):c.712T>C (p.Ser238Pro)
|
rs1669247534
|
|
NM_000179.3(MSH6):c.713C>G (p.Ser238Cys)
|
rs587782510
|
|
NM_000179.3(MSH6):c.718C>G (p.Arg240Gly)
|
rs63750019
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.719G>T (p.Arg240Leu)
|
rs542848931
|
|
NM_000179.3(MSH6):c.71C>G (p.Ser24Trp)
|
|
|
NM_000179.3(MSH6):c.71C>T (p.Ser24Leu)
|
rs786201684
|
|
NM_000179.3(MSH6):c.721A>G (p.Ser241Gly)
|
rs769962086
|
|
NM_000179.3(MSH6):c.722G>A (p.Ser241Asn)
|
rs1060502906
|
|
NM_000179.3(MSH6):c.722G>C (p.Ser241Thr)
|
rs1060502906
|
|
NM_000179.3(MSH6):c.724A>G (p.Ser242Gly)
|
rs2104293692
|
|
NM_000179.3(MSH6):c.725G>A (p.Ser242Asn)
|
rs1060502925
|
|
NM_000179.3(MSH6):c.725G>C (p.Ser242Thr)
|
rs1060502925
|
|
NM_000179.3(MSH6):c.725G>T (p.Ser242Ile)
|
|
|
NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)
|
rs1553412151
|
|
NM_000179.3(MSH6):c.726C>G (p.Ser242Arg)
|
rs1553412151
|
|
NM_000179.3(MSH6):c.727C>A (p.Arg243Ser)
|
rs377216828
|
|
NM_000179.3(MSH6):c.732A>C (p.Gln244His)
|
rs774496371
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
NM_000179.3(MSH6):c.735A>G (p.Ile245Met)
|
rs2104294265
|
|
NM_000179.3(MSH6):c.73G>C (p.Ala25Pro)
|
rs267608026
|
|
NM_000179.3(MSH6):c.740A>C (p.Lys247Thr)
|
|
|
NM_000179.3(MSH6):c.743G>T (p.Arg248Leu)
|
rs764870249
|
|
NM_000179.3(MSH6):c.744_746del (p.Arg249del)
|
rs1553412174
|
|
NM_000179.3(MSH6):c.748G>C (p.Val250Leu)
|
|
|
NM_000179.3(MSH6):c.749T>A (p.Val250Asp)
|
|
|
NM_000179.3(MSH6):c.74C>A (p.Ala25Asp)
|
|
|
NM_000179.3(MSH6):c.74C>G (p.Ala25Gly)
|
rs35462442
|
|
NM_000179.3(MSH6):c.74C>T (p.Ala25Val)
|
rs35462442
|
|
NM_000179.3(MSH6):c.751A>C (p.Ile251Leu)
|
rs554884560
|
|
NM_000179.3(MSH6):c.751A>T (p.Ile251Leu)
|
rs554884560
|
|
NM_000179.3(MSH6):c.754T>C (p.Ser252Pro)
|
rs746623981
|
|
NM_000179.3(MSH6):c.757G>C (p.Asp253His)
|
rs2104295794
|
|
NM_000179.3(MSH6):c.757G>T (p.Asp253Tyr)
|
rs2104295794
|
|
NM_000179.3(MSH6):c.758A>C (p.Asp253Ala)
|
rs2104295851
|
|
NM_000179.3(MSH6):c.761C>G (p.Ser254Cys)
|
rs876659191
|
|
NM_000179.3(MSH6):c.763G>A (p.Glu255Lys)
|
rs876661129
|
|
NM_000179.3(MSH6):c.764A>G (p.Glu255Gly)
|
rs1669253855
|
|
NM_000179.3(MSH6):c.764_765delinsGA (p.Glu255Gly)
|
rs1669253958
|
|
NM_000179.3(MSH6):c.767G>A (p.Ser256Asn)
|
rs1553412194
|
|
NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)
|
rs757622849
|
|
NM_000179.3(MSH6):c.772A>G (p.Ile258Val)
|
rs786202565
|
|
NM_000179.3(MSH6):c.772_774dup (p.Ile258_Gly259insIle)
|
|
|
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr)
|
rs1553412195
|
|
NM_000179.3(MSH6):c.773T>G (p.Ile258Ser)
|
rs1553412195
|
|
NM_000179.3(MSH6):c.774T>G (p.Ile258Met)
|
rs1669254639
|
|
NM_000179.3(MSH6):c.775G>T (p.Gly259Cys)
|
rs1553412198
|
|
NM_000179.3(MSH6):c.776G>C (p.Gly259Ala)
|
rs1404814811
|
|
NM_000179.3(MSH6):c.776G>T (p.Gly259Val)
|
rs1404814811
|
|
NM_000179.3(MSH6):c.779G>A (p.Gly260Asp)
|
|
|
NM_000179.3(MSH6):c.77G>C (p.Arg26Thr)
|
rs1472227590
|
|
NM_000179.3(MSH6):c.782C>G (p.Ser261Cys)
|
rs876661250
|
|
NM_000179.3(MSH6):c.782C>T (p.Ser261Phe)
|
rs876661250
|
|
NM_000179.3(MSH6):c.784G>T (p.Asp262Tyr)
|
|
|
NM_000179.3(MSH6):c.785A>G (p.Asp262Gly)
|
rs1572720347
|
|
NM_000179.3(MSH6):c.787G>A (p.Val263Met)
|
rs1064794127
|
|
NM_000179.3(MSH6):c.787G>C (p.Val263Leu)
|
rs1064794127
|
|
NM_000179.3(MSH6):c.787G>T (p.Val263Leu)
|
rs1064794127
|
|
NM_000179.3(MSH6):c.78G>T (p.Arg26Ser)
|
rs1395190094
|
|
NM_000179.3(MSH6):c.791A>C (p.Glu264Ala)
|
|
|
NM_000179.3(MSH6):c.799C>G (p.Pro267Ala)
|
rs1301670893
|
|
NM_000179.3(MSH6):c.7C>G (p.Arg3Gly)
|
rs1553408074
|
|
NM_000179.3(MSH6):c.802G>A (p.Asp268Asn)
|
|
|
NM_000179.3(MSH6):c.802G>C (p.Asp268His)
|
rs1553412217
|
|
NM_000179.3(MSH6):c.802G>T (p.Asp268Tyr)
|
rs1553412217
|
|
NM_000179.3(MSH6):c.803A>C (p.Asp268Ala)
|
rs2104298516
|
|
NM_000179.3(MSH6):c.805A>G (p.Thr269Ala)
|
rs1553412223
|
|
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)
|
rs587779322
|
|
NM_000179.3(MSH6):c.808A>C (p.Lys270Gln)
|
rs1669257647
|
|
NM_000179.3(MSH6):c.808A>G (p.Lys270Glu)
|
|
|
NM_000179.3(MSH6):c.808_810del (p.Lys270del)
|
rs1669257767
|
|
NM_000179.3(MSH6):c.809A>G (p.Lys270Arg)
|
rs200898010
|
|
NM_000179.3(MSH6):c.809A>T (p.Lys270Met)
|
rs200898010
|
|
NM_000179.3(MSH6):c.80C>A (p.Ala27Asp)
|
rs1668116728
|
|
NM_000179.3(MSH6):c.80C>T (p.Ala27Val)
|
rs1668116728
|
|
NM_000179.3(MSH6):c.810GGA[1] (p.Glu272del)
|
rs786203409
|
|
NM_000179.3(MSH6):c.811G>A (p.Glu271Lys)
|
|
|
NM_000179.3(MSH6):c.811G>C (p.Glu271Gln)
|
|
|
NM_000179.3(MSH6):c.815A>C (p.Glu272Ala)
|
rs2104299198
|
|
NM_000179.3(MSH6):c.816A>C (p.Glu272Asp)
|
rs863224631
|
|
NM_000179.3(MSH6):c.818G>A (p.Gly273Glu)
|
rs769610487
|
|
NM_000179.3(MSH6):c.818G>C (p.Gly273Ala)
|
rs769610487
|
|
NM_000179.3(MSH6):c.820A>G (p.Ser274Gly)
|
rs1572720447
|
|
NM_000179.3(MSH6):c.821G>C (p.Ser274Thr)
|
rs587779949
|
|
NM_000179.3(MSH6):c.823A>G (p.Ser275Gly)
|
rs2104299674
|
|
NM_000179.3(MSH6):c.826G>A (p.Asp276Asn)
|
rs1669259746
|
|
NM_000179.3(MSH6):c.82T>C (p.Ser28Pro)
|
rs1223620783
|
|
NM_000179.3(MSH6):c.82T>G (p.Ser28Ala)
|
rs1223620783
|
|
NM_000179.3(MSH6):c.832A>G (p.Ile278Val)
|
rs1572720474
|
|
NM_000179.3(MSH6):c.833T>A (p.Ile278Lys)
|
rs876658406
|
|
NM_000179.3(MSH6):c.833T>C (p.Ile278Thr)
|
rs876658406
|
|
NM_000179.3(MSH6):c.836G>T (p.Ser279Ile)
|
rs876661292
|
|
NM_000179.3(MSH6):c.837C>A (p.Ser279Arg)
|
rs1558659436
|
|
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly)
|
rs1558659442
|
|
NM_000179.3(MSH6):c.839G>A (p.Ser280Asn)
|
rs1669261078
|
|
NM_000179.3(MSH6):c.842G>A (p.Gly281Glu)
|
rs773445382
|
|
NM_000179.3(MSH6):c.842G>C (p.Gly281Ala)
|
rs773445382
|
|
NM_000179.3(MSH6):c.844G>A (p.Val282Met)
|
rs1572720532
|
|
NM_000179.3(MSH6):c.844G>T (p.Val282Leu)
|
rs1572720532
|
|
NM_000179.3(MSH6):c.847G>C (p.Gly283Arg)
|
|
|
NM_000179.3(MSH6):c.848G>C (p.Gly283Ala)
|
rs1669262436
|
|
NM_000179.3(MSH6):c.848_850dup (p.Gly283_Asp284insGly)
|
|
|
NM_000179.3(MSH6):c.850G>A (p.Asp284Asn)
|
rs1553412286
|
|
NM_000179.3(MSH6):c.850G>C (p.Asp284His)
|
rs1553412286
|
|
NM_000179.3(MSH6):c.850G>T (p.Asp284Tyr)
|
rs1553412286
|
|
NM_000179.3(MSH6):c.853A>G (p.Ser285Gly)
|
rs876660204
|
|
NM_000179.3(MSH6):c.854G>A (p.Ser285Asn)
|
|
|
NM_000179.3(MSH6):c.856G>C (p.Glu286Gln)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.857A>C (p.Glu286Ala)
|
rs2104301989
|
|
NM_000179.3(MSH6):c.85C>G (p.Arg29Gly)
|
rs756589186
|
|
NM_000179.3(MSH6):c.85C>T (p.Arg29Cys)
|
rs756589186
|
|
NM_000179.3(MSH6):c.860G>A (p.Ser287Asn)
|
rs876660299
|
|
NM_000179.3(MSH6):c.860G>C (p.Ser287Thr)
|
rs876660299
|
|
NM_000179.3(MSH6):c.862G>A (p.Glu288Lys)
|
rs1669263931
|
|
NM_000179.3(MSH6):c.864A>T (p.Glu288Asp)
|
|
|
NM_000179.3(MSH6):c.865G>C (p.Gly289Arg)
|
rs1669264133
|
|
NM_000179.3(MSH6):c.866G>C (p.Gly289Ala)
|
rs368318845
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.867C>T (p.Gly289=)
|
rs267608047
|
|
NM_000179.3(MSH6):c.869T>A (p.Leu290Gln)
|
|
|
NM_000179.3(MSH6):c.869T>G (p.Leu290Arg)
|
rs751309721
|
|
NM_000179.3(MSH6):c.86_87delinsCT (p.Arg29Pro)
|
|
|
NM_000179.3(MSH6):c.874A>G (p.Ser292Gly)
|
rs1669265158
|
|
NM_000179.3(MSH6):c.876C>G (p.Ser292Arg)
|
|
|
NM_000179.3(MSH6):c.878C>G (p.Pro293Arg)
|
rs1553412308
|
|
NM_000179.3(MSH6):c.878C>T (p.Pro293Leu)
|
rs1553412308
|
|
NM_000179.3(MSH6):c.880G>A (p.Val294Ile)
|
rs1553412313
|
|
NM_000179.3(MSH6):c.881T>A (p.Val294Asp)
|
rs1482153450
|
|
NM_000179.3(MSH6):c.883A>G (p.Lys295Glu)
|
rs373958499
|
|
NM_000179.3(MSH6):c.884A>C (p.Lys295Thr)
|
rs267608051
|
|
NM_000179.3(MSH6):c.884A>T (p.Lys295Ile)
|
rs267608051
|
|
NM_000179.3(MSH6):c.885A>T (p.Lys295Asn)
|
|
|
NM_000179.3(MSH6):c.886G>C (p.Val296Leu)
|
|
|
NM_000179.3(MSH6):c.886G>T (p.Val296Phe)
|
rs2104303975
|
|
NM_000179.3(MSH6):c.887T>C (p.Val296Ala)
|
rs1572720726
|
|
NM_000179.3(MSH6):c.887T>G (p.Val296Gly)
|
rs1572720726
|
|
NM_000179.3(MSH6):c.88G>A (p.Glu30Lys)
|
rs1445690889
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000179.3(MSH6):c.895A>G (p.Lys299Glu)
|
rs1553412326
|
|
NM_000179.3(MSH6):c.896A>G (p.Lys299Arg)
|
|
|
NM_000179.3(MSH6):c.896A>T (p.Lys299Met)
|
|
|
NM_000179.3(MSH6):c.899G>C (p.Arg300Pro)
|
rs55760494
|
|
NM_000179.3(MSH6):c.899G>T (p.Arg300Leu)
|
rs55760494
|
|
NM_000179.3(MSH6):c.8G>A (p.Arg3Gln)
|
rs1553408078
|
|
NM_000179.3(MSH6):c.8G>C (p.Arg3Pro)
|
rs1553408078
|
|
NM_000179.3(MSH6):c.8G>T (p.Arg3Leu)
|
rs1553408078
|
|
NM_000179.3(MSH6):c.902A>C (p.Lys301Thr)
|
rs1572720800
|
|
NM_000179.3(MSH6):c.903G>C (p.Lys301Asn)
|
rs1553412337
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.905G>T (p.Arg302Ile)
|
rs587781510
|
|
NM_000179.3(MSH6):c.908T>C (p.Met303Thr)
|
rs1558659703
|
|
NM_000179.3(MSH6):c.909G>A (p.Met303Ile)
|
rs786201688
|
|
NM_000179.3(MSH6):c.909G>T (p.Met303Ile)
|
rs786201688
|
|
NM_000179.3(MSH6):c.911T>A (p.Val304Glu)
|
rs1481054050
|
|
NM_000179.3(MSH6):c.913A>G (p.Thr305Ala)
|
rs1572720858
|
|
NM_000179.3(MSH6):c.913A>T (p.Thr305Ser)
|
rs1572720858
|
|
NM_000179.3(MSH6):c.914C>A (p.Thr305Asn)
|
rs2104306041
|
|
NM_000179.3(MSH6):c.916G>A (p.Gly306Arg)
|
rs876659659
|
|
NM_000179.3(MSH6):c.919A>G (p.Asn307Asp)
|
rs1669270601
|
|
NM_000179.3(MSH6):c.922G>A (p.Gly308Ser)
|
rs370174372
|
|
NM_000179.3(MSH6):c.923G>A (p.Gly308Asp)
|
rs1553412354
|
|
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)
|
rs1553412354
|
|
NM_000179.3(MSH6):c.925T>C (p.Ser309Pro)
|
rs876659095
|
|
NM_000179.3(MSH6):c.928C>G (p.Leu310Val)
|
rs1060502900
|
|
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg)
|
rs777302246
|
|
NM_000179.3(MSH6):c.931A>C (p.Lys311Gln)
|
rs1323987464
|
|
NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)
|
rs1323987464
|
|
NM_000179.3(MSH6):c.933A>T (p.Lys311Asn)
|
rs730881785
|
|
NM_000179.3(MSH6):c.934A>G (p.Arg312Gly)
|
rs1669273687
|
|
NM_000179.3(MSH6):c.935G>C (p.Arg312Thr)
|
rs1669273799
|
|
NM_000179.3(MSH6):c.936_941del (p.Arg312_Lys313del)
|
rs1553412361
|
|
NM_000179.3(MSH6):c.938A>G (p.Lys313Arg)
|
rs753373644
|
|
NM_000179.3(MSH6):c.940A>C (p.Ser314Arg)
|
|
|
NM_000179.3(MSH6):c.942C>A (p.Ser314Arg)
|
rs150440246
|
|
NM_000179.3(MSH6):c.943T>C (p.Ser315Pro)
|
rs1167164970
|
|
NM_000179.3(MSH6):c.944C>T (p.Ser315Phe)
|
rs63750491
|
|
NM_000179.3(MSH6):c.946A>G (p.Arg316Gly)
|
|
|
NM_000179.3(MSH6):c.947G>T (p.Arg316Met)
|
|
|
NM_000179.3(MSH6):c.948G>C (p.Arg316Ser)
|
|
|
NM_000179.3(MSH6):c.949A>G (p.Lys317Glu)
|
rs1114167758
|
|
NM_000179.3(MSH6):c.94G>A (p.Gly32Ser)
|
rs776859837
|
|
NM_000179.3(MSH6):c.950A>G (p.Lys317Arg)
|
rs876661282
|
|
NM_000179.3(MSH6):c.951G>C (p.Lys317Asn)
|
rs1572720985
|
|
NM_000179.3(MSH6):c.952G>A (p.Glu318Lys)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.952G>C (p.Glu318Gln)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.956C>G (p.Thr319Arg)
|
rs188252826
|
|
NM_000179.3(MSH6):c.958C>G (p.Pro320Ala)
|
rs754879198
|
|
NM_000179.3(MSH6):c.958C>T (p.Pro320Ser)
|
rs754879198
|
|
NM_000179.3(MSH6):c.959C>T (p.Pro320Leu)
|
rs779022657
|
|
NM_000179.3(MSH6):c.95G>T (p.Gly32Val)
|
rs771426932
|
|
NM_000179.3(MSH6):c.961T>C (p.Ser321Pro)
|
rs2104309335
|
|
NM_000179.3(MSH6):c.962C>T (p.Ser321Leu)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.965C>T (p.Ala322Val)
|
rs1253844411
|
|
NM_000179.3(MSH6):c.968C>G (p.Thr323Ser)
|
rs777890307
|
|
NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)
|
rs1558659961
|
|
NM_000179.3(MSH6):c.971A>T (p.Lys324Ile)
|
|
|
NM_000179.3(MSH6):c.974A>G (p.Gln325Arg)
|
|
|
NM_000179.3(MSH6):c.974A>T (p.Gln325Leu)
|
rs1669278862
|
|
NM_000179.3(MSH6):c.979A>C (p.Thr327Pro)
|
rs730881814
|
|
NM_000179.3(MSH6):c.97C>A (p.Arg33Ser)
|
rs730881811
|
|
NM_000179.3(MSH6):c.97C>G (p.Arg33Gly)
|
rs730881811
|
|
NM_000179.3(MSH6):c.980C>A (p.Thr327Asn)
|
rs369568820
|
|
NM_000179.3(MSH6):c.982A>G (p.Ser328Gly)
|
rs1572721137
|
|
NM_000179.3(MSH6):c.983G>C (p.Ser328Thr)
|
rs1060502879
|
|
NM_000179.3(MSH6):c.983G>T (p.Ser328Ile)
|
rs1060502879
|
|
NM_000179.3(MSH6):c.985A>C (p.Ile329Leu)
|
rs1669280227
|
|
NM_000179.3(MSH6):c.986T>C (p.Ile329Thr)
|
|
|
NM_000179.3(MSH6):c.989C>T (p.Ser330Leu)
|
rs786202848
|
|
NM_000179.3(MSH6):c.98G>T (p.Arg33Leu)
|
rs878853751
|
|
NM_000179.3(MSH6):c.991T>A (p.Ser331Thr)
|
|
|
NM_000179.3(MSH6):c.992C>T (p.Ser331Leu)
|
rs1669281225
|
|
NM_000179.3(MSH6):c.997A>C (p.Thr333Pro)
|
rs886056143
|
|
NM_000179.3(MSH6):c.998C>G (p.Thr333Ser)
|
rs587781983
|
|
NM_000190.4(HMBS):c.*153G>A
|
rs550995668
|
|
NM_000190.4(HMBS):c.*94T>C
|
rs886047755
|
|
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)
|
rs1565750711
|
|
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn)
|
rs1402435019
|
|
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser)
|
rs1565754479
|
|
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
|
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.584G>A (p.Arg195His)
|
rs1364712093
|
|
NM_000190.4(HMBS):c.615C>G (p.Ile205Met)
|
rs774594843
|
|
NM_000190.4(HMBS):c.654G>A (p.Gly218=)
|
rs1350355238
|
|
NM_000190.4(HMBS):c.723C>G (p.Pro241=)
|
rs202067277
|
|
NM_000190.4(HMBS):c.88-27_88-12del
|
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
NM_000207.3(INS):c.125T>C (p.Val42Ala)
|
rs886037863
|
|
NM_000207.3(INS):c.137G>A (p.Arg46Gln)
|
rs121908260
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
NM_000207.3(INS):c.155C>A (p.Pro52His)
|
rs145038693
|
|
NM_000207.3(INS):c.187+15C>A
|
rs754089310
|
|
NM_000207.3(INS):c.187+241G>A
|
rs886041083
|
|
NM_000207.3(INS):c.188-3C>A
|
rs886048111
|
|
NM_000207.3(INS):c.250G>A (p.Gly84Arg)
|
rs121908274
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
NM_000207.3(INS):c.274G>T (p.Val92Leu)
|
rs121918102
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.3G>A (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000207.3(INS):c.85C>G (p.His29Asp)
|
rs121908272
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000208.4(INSR):c.*1067G>A
|
rs141647996
|
|
NM_000208.4(INSR):c.*1190A>G
|
rs1972310295
|
|
NM_000208.4(INSR):c.*1525G>A
|
rs886054674
|
|
NM_000208.4(INSR):c.*1592G>A
|
rs886054673
|
|
NM_000208.4(INSR):c.*1831C>A
|
rs111750247
|
|
NM_000208.4(INSR):c.*1831C>T
|
rs111750247
|
|
NM_000208.4(INSR):c.*1909A>G
|
rs989727643
|
|
NM_000208.4(INSR):c.*2102T>C
|
rs1972287724
|
|
NM_000208.4(INSR):c.*2145_*2146dup
|
rs57473640
|
|
NM_000208.4(INSR):c.*214G>A
|
rs1972340823
|
|
NM_000208.4(INSR):c.*2633del
|
rs532103296
|
|
NM_000208.4(INSR):c.*2752C>G
|
rs577444458
|
|
NM_000208.4(INSR):c.*2752C>T
|
rs577444458
|
|
NM_000208.4(INSR):c.*289del
|
rs886054684
|
|
NM_000208.4(INSR):c.*3008_*3009del
|
rs1555733404
|
|
NM_000208.4(INSR):c.*3008del
|
rs72149315
|
|
NM_000208.4(INSR):c.*3010del
|
rs886054664
|
|
NM_000208.4(INSR):c.*3013C>G
|
rs533582304
|
|
NM_000208.4(INSR):c.*302A>G
|
rs1972337815
|
|
NM_000208.4(INSR):c.*3101C>G
|
rs1474403993
|
|
NM_000208.4(INSR):c.*334C>T
|
rs1016923782
|
|
NM_000208.4(INSR):c.*334del
|
rs886054683
|
|
NM_000208.4(INSR):c.*3390CAA[4]
|
rs886054663
|
|
NM_000208.4(INSR):c.*348_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*349_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*352_*355dup
|
rs71177157
|
|
NM_000208.4(INSR):c.*355_*356del
|
rs1491388964
|
|
NM_000208.4(INSR):c.*356_*357del
|
rs1555733954
|
|
NM_000208.4(INSR):c.*358_*359insTTTTTT
|
rs886054680
|
|
NM_000208.4(INSR):c.*3855C>G
|
rs1233808516
|
|
NM_000208.4(INSR):c.*3858G>A
|
rs912366991
|
|
NM_000208.4(INSR):c.*4349C>T
|
rs886054661
|
|
NM_000208.4(INSR):c.*4376G>C
|
rs1277836861
|
|
NM_000208.4(INSR):c.*4719dup
|
rs543556010
|
|
NM_000208.4(INSR):c.*4736T>G
|
rs886054658
|
|
NM_000208.4(INSR):c.*511del
|
rs886054679
|
|
NM_000208.4(INSR):c.*541dup
|
rs886054678
|
|
NM_000208.4(INSR):c.*743A>G
|
rs1459964736
|
|
NM_000208.4(INSR):c.*853A>C
|
rs886054677
|
|
NM_000208.4(INSR):c.*927_*928insG
|
rs886054675
|
|
NM_000208.4(INSR):c.*959A>G
|
rs988651664
|
|
NM_000208.4(INSR):c.*973dup
|
rs547421118
|
|
NM_000208.4(INSR):c.1305A>G (p.Leu435=)
|
rs1463291322
|
|
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln)
|
rs121913136
|
|
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp)
|
rs1555743340
|
|
NM_000208.4(INSR):c.1866C>T (p.Pro622=)
|
rs767792551
|
|
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
|
|
|
NM_000208.4(INSR):c.1988C>T (p.Ala663Val)
|
rs201034510
|
|
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser)
|
rs545885277
|
|
NM_000208.4(INSR):c.2471C>T (p.Ala824Val)
|
rs886054689
|
|
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn)
|
rs780976765
|
|
NM_000208.4(INSR):c.2602C>T (p.His868Tyr)
|
rs370120425
|
|
NM_000208.4(INSR):c.2739G>T (p.Leu913=)
|
rs753461226
|
|
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr)
|
rs886054688
|
|
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)
|
rs1281347529
|
|
NM_000208.4(INSR):c.3054G>A (p.Val1018=)
|
rs886054687
|
|
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)
|
rs1250061465
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.4065C>A (p.Tyr1355Ter)
|
rs140573377
|
|
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro)
|
rs52826008
|
|
NM_000208.4(INSR):c.489C>A (p.Ile163=)
|
rs530955658
|
|
NM_000208.4(INSR):c.653-23TC[12]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
|
|
|
NM_000208.4(INSR):c.783C>G (p.Asp261Glu)
|
rs891087
|
|
NM_000209.4(PDX1):c.-50CTCCCGG[5]
|
rs193922352
|
|
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg)
|
rs936861677
|
|
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs)
|
rs1957772748
|
|
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
|
|
|
NM_000209.4(PDX1):c.282C>G (p.His94Gln)
|
rs2137502663
|
|
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)
|
|
|
NM_000209.4(PDX1):c.455C>T (p.Ala152Val)
|
rs1355562073
|
|
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
|
|
|
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu)
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
|
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg)
|
rs1444351717
|
|
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter)
|
rs1236618998
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000214.3(JAG1):c.*1093_*1097del
|
rs886056509
|
|
NM_000214.3(JAG1):c.*1133_*1136del
|
rs886056508
|
|
NM_000214.3(JAG1):c.*1212_*1214del
|
rs886056507
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*644AAT[1]
|
rs572952606
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.-375dup
|
rs201660680
|
|
NM_000214.3(JAG1):c.-386dup
|
rs886056519
|
|
NM_000214.3(JAG1):c.-75A>G
|
rs1208905634
|
|
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)
|
rs1555830973
|
|
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys)
|
|
|
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp)
|
|
|
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr)
|
|
|
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met)
|
rs2122613611
|
|
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp)
|
|
|
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser)
|
|
|
NM_000214.3(JAG1):c.1119A>G (p.Thr373=)
|
|
|
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val)
|
rs2122611687
|
|
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu)
|
|
|
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr)
|
|
|
NM_000214.3(JAG1):c.1155C>A (p.His385Gln)
|
rs531019589
|
|
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp)
|
|
|
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn)
|
rs2067508041
|
|
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)
|
|
|
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)
|
|
|
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln)
|
|
|
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
|
rs144204614
|
|
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg)
|
rs2067336534
|
|
NM_000214.3(JAG1):c.1234+3A>G
|
|
|
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu)
|
rs1568796947
|
|
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys)
|
|
|
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)
|
|
|
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys)
|
|
|
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe)
|
|
|
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)
|
|
|
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly)
|
|
|
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg)
|
rs2122610484
|
|
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del)
|
rs2067332008
|
|
NM_000214.3(JAG1):c.1309G>C (p.Asp437His)
|
rs758876727
|
|
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)
|
rs1187579730
|
|
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp)
|
rs2067332021
|
|
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val)
|
rs2122610344
|
|
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del)
|
rs1345611817
|
|
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn)
|
|
|
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)
|
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.1396-3T>C
|
|
|
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
|
|
|
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del)
|
rs754284753
|
|
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr)
|
|
|
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)
|
rs370107709
|
|
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
|
|
|
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
|
|
|
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys)
|
rs2067324770
|
|
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
|
|
|
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg)
|
|
|
NM_000214.3(JAG1):c.1570-3C>A
|
|
|
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn)
|
|
|
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr)
|
|
|
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp)
|
rs2122607889
|
|
NM_000214.3(JAG1):c.1606A>C (p.Asn536His)
|
|
|
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)
|
|
|
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg)
|
|
|
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
|
|
|
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
|
|
|
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
|
|
|
NM_000214.3(JAG1):c.1696C>G (p.His566Asp)
|
rs927278875
|
|
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
|
|
|
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
|
|
|
NM_000214.3(JAG1):c.1720+3A>G
|
rs1555828541
|
|
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr)
|
rs2067314756
|
|
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
|
|
|
NM_000214.3(JAG1):c.1744A>G (p.Met582Val)
|
rs2067314648
|
|
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp)
|
|
|
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser)
|
rs1321273663
|
|
NM_000214.3(JAG1):c.1806C>G (p.His602Gln)
|
|
|
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val)
|
rs2122606183
|
|
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)
|
|
|
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
|
rs1009426924
|
|
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)
|
rs752105789
|
|
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)
|
|
|
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp)
|
rs1261301855
|
|
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln)
|
rs2122644702
|
|
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser)
|
|
|
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg)
|
|
|
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His)
|
|
|
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg)
|
|
|
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro)
|
rs763048289
|
|
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile)
|
rs2122604394
|
|
NM_000214.3(JAG1):c.1998C>T (p.Thr666=)
|
|
|
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala)
|
|
|
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser)
|
|
|
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)
|
|
|
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
|
|
|
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)
|
rs933125751
|
|
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)
|
|
|
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu)
|
rs2122603442
|
|
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr)
|
rs1555828246
|
|
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg)
|
rs1568794319
|
|
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser)
|
|
|
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala)
|
rs780243244
|
|
NM_000214.3(JAG1):c.20G>A (p.Arg7His)
|
|
|
NM_000214.3(JAG1):c.2113+5G>A
|
rs886044704
|
|
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn)
|
rs2122603091
|
|
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro)
|
|
|
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)
|
|
|
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr)
|
rs2067300040
|
|
NM_000214.3(JAG1):c.2143A>C (p.Asn715His)
|
|
|
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn)
|
|
|
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)
|
rs2067299833
|
|
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr)
|
rs2122602965
|
|
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly)
|
|
|
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp)
|
rs2122602901
|
|
NM_000214.3(JAG1):c.2228-13T>C
|
|
|
NM_000214.3(JAG1):c.2228-3T>G
|
|
|
NM_000214.3(JAG1):c.2228-6T>C
|
|
|
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn)
|
rs2122602515
|
|
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser)
|
rs2122644646
|
|
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
|
|
|
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe)
|
rs2122602473
|
|
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu)
|
rs1600196460
|
|
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp)
|
|
|
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
|
|
|
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)
|
rs149949294
|
|
NM_000214.3(JAG1):c.2319C>T (p.Gly773=)
|
rs2122602306
|
|
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr)
|
|
|
NM_000214.3(JAG1):c.2344+6T>C
|
|
|
NM_000214.3(JAG1):c.2344+7G>A
|
|
|
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
|
|
|
NM_000214.3(JAG1):c.2345-8_2345-6del
|
rs1396652277
|
|
NM_000214.3(JAG1):c.2372+3_2372+6del
|
rs2067293629
|
|
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg)
|
rs56225585
|
|
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp)
|
rs2067506800
|
|
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
|
|
|
NM_000214.3(JAG1):c.2458+4A>C
|
rs2122600423
|
|
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
|
|
|
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr)
|
|
|
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys)
|
rs2122644586
|
|
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val)
|
|
|
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
|
|
|
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser)
|
rs967515336
|
|
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)
|
|
|
NM_000214.3(JAG1):c.2572+4T>C
|
|
|
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
|
rs762121866
|
|
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
|
|
|
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala)
|
|
|
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser)
|
|
|
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly)
|
rs948733750
|
|
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val)
|
|
|
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
|
|
|
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn)
|
|
|
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro)
|
|
|
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln)
|
|
|
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis)
|
|
|
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala)
|
|
|
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)
|
rs1252730791
|
|
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)
|
|
|
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro)
|
rs2067272394
|
|
NM_000214.3(JAG1):c.2797G>A (p.Val933Met)
|
rs2122596605
|
|
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
|
rs1568792060
|
|
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)
|
|
|
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser)
|
|
|
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp)
|
rs779410593
|
|
NM_000214.3(JAG1):c.2866G>C (p.Asp956His)
|
|
|
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val)
|
rs1028081494
|
|
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del)
|
|
|
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp)
|
|
|
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile)
|
rs2067271012
|
|
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser)
|
rs2067270959
|
|
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val)
|
|
|
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala)
|
|
|
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
|
|
|
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro)
|
rs1333355200
|
|
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
|
|
|
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
|
|
|
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser)
|
rs2122595817
|
|
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser)
|
rs2122644496
|
|
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu)
|
|
|
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His)
|
|
|
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)
|
|
|
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met)
|
|
|
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val)
|
rs2122595760
|
|
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser)
|
rs2122595723
|
|
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg)
|
|
|
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly)
|
rs577307986
|
|
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser)
|
rs2067267863
|
|
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln)
|
|
|
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly)
|
rs2067267844
|
|
NM_000214.3(JAG1):c.3048+1G>A
|
rs876661121
|
|
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr)
|
rs1736644803
|
|
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)
|
|
|
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu)
|
|
|
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg)
|
rs749591256
|
|
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu)
|
|
|
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser)
|
|
|
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
|
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)
|
rs1568806951
|
|
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr)
|
rs2067265410
|
|
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
|
|
|
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
|
|
|
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala)
|
rs2122594991
|
|
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser)
|
rs2067265121
|
|
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro)
|
|
|
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile)
|
|
|
NM_000214.3(JAG1):c.322A>C (p.Asn108His)
|
rs1242473299
|
|
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)
|
rs2067505956
|
|
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter)
|
|
|
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe)
|
|
|
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs)
|
rs2067258384
|
|
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala)
|
rs1600177820
|
|
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=)
|
|
|
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
|
|
|
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup)
|
rs771530161
|
|
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg)
|
rs2067257938
|
|
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)
|
|
|
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)
|
rs763966262
|
|
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr)
|
rs1044765003
|
|
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)
|
|
|
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)
|
rs150811951
|
|
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)
|
|
|
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr)
|
rs371118939
|
|
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)
|
|
|
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro)
|
rs2122593353
|
|
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
|
|
|
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser)
|
rs769242977
|
|
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
|
|
|
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp)
|
rs2122644398
|
|
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)
|
|
|
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro)
|
rs2122593151
|
|
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)
|
|
|
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His)
|
rs755047447
|
|
NM_000214.3(JAG1):c.347A>T (p.Asp116Val)
|
rs2067505703
|
|
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu)
|
|
|
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)
|
rs752608779
|
|
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)
|
|
|
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)
|
|
|
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys)
|
rs1479790705
|
|
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
|
|
|
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys)
|
rs1555830925
|
|
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys)
|
rs754010868
|
|
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)
|
|
|
NM_000214.3(JAG1):c.35G>A (p.Arg12His)
|
rs993180718
|
|
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)
|
|
|
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)
|
|
|
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val)
|
rs2122592834
|
|
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)
|
rs769276255
|
|
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu)
|
rs138007561
|
|
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu)
|
rs2122644329
|
|
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg)
|
rs2067505361
|
|
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr)
|
rs930247415
|
|
NM_000214.3(JAG1):c.388-14T>A
|
|
|
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG
|
|
|
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)
|
|
|
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
|
|
|
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
|
|
|
NM_000214.3(JAG1):c.439+6T>A
|
rs2067434392
|
|
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser)
|
rs1355919795
|
|
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
|
|
|
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
|
|
|
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser)
|
rs2067394475
|
|
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)
|
|
|
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly)
|
rs749293754
|
|
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg)
|
rs2067394353
|
|
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)
|
|
|
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala)
|
|
|
NM_000214.3(JAG1):c.524G>T (p.Gly175Val)
|
rs2122623743
|
|
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
|
|
|
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
|
|
|
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
|
|
|
NM_000214.3(JAG1):c.554T>A (p.Val185Glu)
|
rs2067393827
|
|
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg)
|
|
|
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp)
|
rs1242543124
|
|
NM_000214.3(JAG1):c.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys)
|
rs2067393579
|
|
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser)
|
rs2122623617
|
|
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
|
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
|
|
|
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
|
|
|
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr)
|
|
|
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser)
|
|
|
NM_000214.3(JAG1):c.647G>T (p.Gly216Val)
|
|
|
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)
|
|
|
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)
|
|
|
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
|
|
|
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser)
|
rs2067513128
|
|
NM_000214.3(JAG1):c.694+3_694+4del
|
rs1235111413
|
|
NM_000214.3(JAG1):c.694+4T>C
|
rs944996400
|
|
NM_000214.3(JAG1):c.694+80A>G
|
|
|
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln)
|
rs1245693208
|
|
NM_000214.3(JAG1):c.708A>G (p.Gln236=)
|
rs2067379739
|
|
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn)
|
rs2067379682
|
|
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro)
|
rs1135401949
|
|
NM_000214.3(JAG1):c.725A>G (p.His242Arg)
|
|
|
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg)
|
rs2122620282
|
|
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg)
|
rs2122615195
|
|
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
|
|
|
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr)
|
rs2067513063
|
|
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
|
|
|
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro)
|
|
|
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
|
|
|
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
|
|
|
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser)
|
|
|
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
|
|
|
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys)
|
rs2122615095
|
|
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg)
|
rs2067354186
|
|
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly)
|
|
|
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
|
|
|
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe)
|
rs1555829067
|
|
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp)
|
|
|
NM_000214.3(JAG1):c.866G>T (p.Gly289Val)
|
rs2122615016
|
|
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)
|
rs1434161643
|
|
NM_000214.3(JAG1):c.870C>T (p.Gly290=)
|
rs529032883
|
|
NM_000214.3(JAG1):c.872A>T (p.Gln291Leu)
|
rs2122614980
|
|
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu)
|
rs2122614970
|
|
NM_000214.3(JAG1):c.886+5G>A
|
rs1173329664
|
|
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro)
|
|
|
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg)
|
rs750195672
|
|
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)
|
|
|
NM_000214.3(JAG1):c.958T>C (p.Tyr320His)
|
rs2122614423
|
|
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg)
|
rs2067351426
|
|
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala)
|
|
|
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)
|
|
|
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.1003G>A (p.Val335Ile)
|
|
|
NM_000222.3(KIT):c.1006G>A (p.Glu336Lys)
|
|
|
NM_000222.3(KIT):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_000222.3(KIT):c.101C>A (p.Pro34Gln)
|
rs55755457
|
|
NM_000222.3(KIT):c.1021C>T (p.Pro341Ser)
|
rs1720842703
|
|
NM_000222.3(KIT):c.1025A>G (p.Lys342Arg)
|
rs1720843061
|
|
NM_000222.3(KIT):c.1025A>T (p.Lys342Ile)
|
rs1720843061
|
|
NM_000222.3(KIT):c.1027C>T (p.Pro343Ser)
|
rs878853757
|
|
NM_000222.3(KIT):c.1033C>T (p.His345Tyr)
|
rs1560401964
|
|
NM_000222.3(KIT):c.1038G>T (p.Gln346His)
|
rs1577967302
|
|
NM_000222.3(KIT):c.1040A>G (p.Gln347Arg)
|
rs2109705509
|
|
NM_000222.3(KIT):c.1046T>C (p.Ile349Thr)
|
|
|
NM_000222.3(KIT):c.1049A>G (p.Tyr350Cys)
|
rs864622728
|
|
NM_000222.3(KIT):c.1051A>G (p.Met351Val)
|
rs1720845704
|
|
NM_000222.3(KIT):c.1053G>A (p.Met351Ile)
|
rs1553888790
|
|
NM_000222.3(KIT):c.1054A>G (p.Asn352Asp)
|
|
|
NM_000222.3(KIT):c.1055A>G (p.Asn352Ser)
|
rs1560402002
|
|
NM_000222.3(KIT):c.1057A>G (p.Arg353Gly)
|
rs1720846582
|
|
NM_000222.3(KIT):c.1058G>A (p.Arg353Lys)
|
rs2109705610
|
|
NM_000222.3(KIT):c.1061C>T (p.Thr354Ile)
|
rs1469004426
|
|
NM_000222.3(KIT):c.1063T>A (p.Phe355Ile)
|
rs2109705650
|
|
NM_000222.3(KIT):c.106C>A (p.Pro36Thr)
|
rs781633384
|
|
NM_000222.3(KIT):c.106C>G (p.Pro36Ala)
|
|
|
NM_000222.3(KIT):c.1070A>G (p.Asp357Gly)
|
|
|
NM_000222.3(KIT):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000222.3(KIT):c.1079A>G (p.Glu360Gly)
|
rs1577967381
|
|
NM_000222.3(KIT):c.107C>T (p.Pro36Leu)
|
|
|
NM_000222.3(KIT):c.1080A>C (p.Glu360Asp)
|
rs753844400
|
|
NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr)
|
rs2109705752
|
|
NM_000222.3(KIT):c.1098G>C (p.Glu366Asp)
|
|
|
NM_000222.3(KIT):c.10G>A (p.Ala4Thr)
|
|
|
NM_000222.3(KIT):c.10G>C (p.Ala4Pro)
|
rs1192807264
|
|
NM_000222.3(KIT):c.10G>T (p.Ala4Ser)
|
|
|
NM_000222.3(KIT):c.10_11delinsTT (p.Ala4Phe)
|
rs1553881759
|
|
NM_000222.3(KIT):c.1100A>C (p.Asn367Thr)
|
rs1060502552
|
|
NM_000222.3(KIT):c.1102G>A (p.Glu368Lys)
|
|
|
NM_000222.3(KIT):c.1106G>A (p.Ser369Asn)
|
rs746884875
|
|
NM_000222.3(KIT):c.1106G>C (p.Ser369Thr)
|
rs746884875
|
|
NM_000222.3(KIT):c.1108A>C (p.Asn370His)
|
|
|
NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)
|
rs878853758
|
|
NM_000222.3(KIT):c.1115+3A>G
|
rs1720850807
|
|
NM_000222.3(KIT):c.1115+4A>C
|
rs1720851027
|
|
NM_000222.3(KIT):c.1117T>A (p.Tyr373Asn)
|
rs1720996900
|
|
NM_000222.3(KIT):c.1117T>C (p.Tyr373His)
|
|
|
NM_000222.3(KIT):c.1120G>T (p.Val374Leu)
|
rs73137716
|
|
NM_000222.3(KIT):c.1121T>C (p.Val374Ala)
|
|
|
NM_000222.3(KIT):c.1124G>A (p.Ser375Asn)
|
|
|
NM_000222.3(KIT):c.1126G>A (p.Glu376Lys)
|
rs1720997965
|
|
NM_000222.3(KIT):c.1127A>G (p.Glu376Gly)
|
|
|
NM_000222.3(KIT):c.1129C>G (p.Leu377Val)
|
rs1459672424
|
|
NM_000222.3(KIT):c.112T>A (p.Ser38Thr)
|
rs1720002282
|
|
NM_000222.3(KIT):c.1136T>G (p.Leu379Arg)
|
rs1459751065
|
|
NM_000222.3(KIT):c.1139C>G (p.Thr380Arg)
|
rs760981584
|
|
NM_000222.3(KIT):c.113C>T (p.Ser38Phe)
|
|
|
NM_000222.3(KIT):c.1154C>G (p.Thr385Ser)
|
rs1721000055
|
|
NM_000222.3(KIT):c.1154C>T (p.Thr385Ile)
|
rs1721000055
|
|
NM_000222.3(KIT):c.1159G>A (p.Gly387Arg)
|
rs2109714130
|
|
NM_000222.3(KIT):c.115A>C (p.Ile39Leu)
|
|
|
NM_000222.3(KIT):c.1165A>C (p.Thr389Pro)
|
rs1577970160
|
|
NM_000222.3(KIT):c.1166C>G (p.Thr389Ser)
|
rs1721000810
|
|
NM_000222.3(KIT):c.1166C>T (p.Thr389Ile)
|
rs1721000810
|
|
NM_000222.3(KIT):c.1174T>C (p.Phe392Leu)
|
|
|
NM_000222.3(KIT):c.1176C>A (p.Phe392Leu)
|
rs1212358569
|
|
NM_000222.3(KIT):c.1176C>G (p.Phe392Leu)
|
rs1212358569
|
|
NM_000222.3(KIT):c.1177C>A (p.Leu393Ile)
|
rs750332587
|
|
NM_000222.3(KIT):c.1180G>A (p.Val394Met)
|
rs2109714224
|
|
NM_000222.3(KIT):c.1183T>A (p.Ser395Thr)
|
|
|
NM_000222.3(KIT):c.1184C>T (p.Ser395Phe)
|
rs1721002320
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
NM_000222.3(KIT):c.1187A>G (p.Asn396Ser)
|
rs1553889095
|
|
NM_000222.3(KIT):c.1188T>A (p.Asn396Lys)
|
rs1721003241
|
|
NM_000222.3(KIT):c.1190C>A (p.Ser397Tyr)
|
|
|
NM_000222.3(KIT):c.1190C>T (p.Ser397Phe)
|
rs2109714289
|
|
NM_000222.3(KIT):c.1194_1195delinsAT (p.Asp398_Val399delinsGluPhe)
|
rs1560404023
|
|
NM_000222.3(KIT):c.1195G>T (p.Val399Phe)
|
rs143707288
|
|
NM_000222.3(KIT):c.1196T>C (p.Val399Ala)
|
rs1553889101
|
|
NM_000222.3(KIT):c.1201G>A (p.Ala401Thr)
|
rs778615486
|
|
NM_000222.3(KIT):c.1204G>A (p.Ala402Thr)
|
rs2109714391
|
|
NM_000222.3(KIT):c.1204G>T (p.Ala402Ser)
|
rs2109714391
|
|
NM_000222.3(KIT):c.1211C>A (p.Ala404Glu)
|
rs1345754212
|
|
NM_000222.3(KIT):c.1217A>G (p.Asn406Ser)
|
rs771574892
|
|
NM_000222.3(KIT):c.121C>G (p.Pro41Ala)
|
|
|
NM_000222.3(KIT):c.1225G>A (p.Val409Met)
|
|
|
NM_000222.3(KIT):c.1227_1228delinsAT (p.Asn410Tyr)
|
rs1060502548
|
|
NM_000222.3(KIT):c.122C>T (p.Pro41Leu)
|
rs2109660787
|
|
NM_000222.3(KIT):c.1232-3T>C
|
rs1722024450
|
|
NM_000222.3(KIT):c.1232-6C>G
|
rs1553890995
|
|
NM_000222.3(KIT):c.1240G>C (p.Glu414Gln)
|
rs1722025262
|
|
NM_000222.3(KIT):c.1247T>G (p.Leu416Arg)
|
|
|
NM_000222.3(KIT):c.1249A>T (p.Thr417Ser)
|
|
|
NM_000222.3(KIT):c.124G>A (p.Gly42Arg)
|
|
|
NM_000222.3(KIT):c.1250C>T (p.Thr417Ile)
|
|
|
NM_000222.3(KIT):c.1255G>C (p.Asp419His)
|
rs752354428
|
|
NM_000222.3(KIT):c.1255_1257del (p.Asp419del)
|
|
|
NM_000222.3(KIT):c.1256A>G (p.Asp419Gly)
|
rs1368874379
|
|
NM_000222.3(KIT):c.1258A>G (p.Arg420Gly)
|
|
|
NM_000222.3(KIT):c.1259G>T (p.Arg420Met)
|
|
|
NM_000222.3(KIT):c.125G>A (p.Gly42Glu)
|
rs746856550
|
|
NM_000222.3(KIT):c.1261C>A (p.Leu421Ile)
|
rs1560414379
|
|
NM_000222.3(KIT):c.1261C>T (p.Leu421Phe)
|
rs1560414379
|
|
NM_000222.3(KIT):c.1263_1265dup (p.Val422dup)
|
rs587778434
|
|
NM_000222.3(KIT):c.1264G>A (p.Val422Met)
|
rs1560414398
|
|
NM_000222.3(KIT):c.1268A>G (p.Asn423Ser)
|
|
|
NM_000222.3(KIT):c.1272C>T (p.Gly424=)
|
rs1553891012
|
|
NM_000222.3(KIT):c.1273A>G (p.Met425Val)
|
rs2109760798
|
|
NM_000222.3(KIT):c.1274T>C (p.Met425Thr)
|
rs878853760
|
|
NM_000222.3(KIT):c.1275G>A (p.Met425Ile)
|
rs1560414419
|
|
NM_000222.3(KIT):c.1276C>A (p.Leu426Ile)
|
rs758061831
|
|
NM_000222.3(KIT):c.1280A>G (p.Gln427Arg)
|
rs1560414436
|
|
NM_000222.3(KIT):c.1280A>T (p.Gln427Leu)
|
rs1560414436
|
|
NM_000222.3(KIT):c.1285G>A (p.Val429Met)
|
rs1722031307
|
|
NM_000222.3(KIT):c.1285G>C (p.Val429Leu)
|
rs1722031307
|
|
NM_000222.3(KIT):c.1288G>A (p.Ala430Thr)
|
rs1060502540
|
|
NM_000222.3(KIT):c.1289C>T (p.Ala430Val)
|
rs1722031777
|
|
NM_000222.3(KIT):c.128A>T (p.Lys43Ile)
|
|
|
NM_000222.3(KIT):c.1291G>A (p.Ala431Thr)
|
rs962542157
|
|
NM_000222.3(KIT):c.1291G>T (p.Ala431Ser)
|
rs962542157
|
|
NM_000222.3(KIT):c.1298T>C (p.Phe433Ser)
|
rs1577988844
|
|
NM_000222.3(KIT):c.1304A>C (p.Glu435Ala)
|
rs2109761128
|
|
NM_000222.3(KIT):c.1310C>A (p.Thr437Lys)
|
|
|
NM_000222.3(KIT):c.1315G>A (p.Asp439Asn)
|
|
|
NM_000222.3(KIT):c.1316A>G (p.Asp439Gly)
|
rs1476141776
|
|
NM_000222.3(KIT):c.1316A>T (p.Asp439Val)
|
rs1476141776
|
|
NM_000222.3(KIT):c.1326T>A (p.Phe442Leu)
|
rs1553891024
|
|
NM_000222.3(KIT):c.1328G>C (p.Cys443Ser)
|
rs2109761301
|
|
NM_000222.3(KIT):c.1330C>T (p.Pro444Ser)
|
rs2109761315
|
|
NM_000222.3(KIT):c.1331C>T (p.Pro444Leu)
|
rs774389709
|
|
NM_000222.3(KIT):c.1334G>A (p.Gly445Glu)
|
|
|
NM_000222.3(KIT):c.1337C>A (p.Thr446Asn)
|
rs761984908
|
|
NM_000222.3(KIT):c.1337C>G (p.Thr446Ser)
|
|
|
NM_000222.3(KIT):c.133G>A (p.Asp45Asn)
|
rs1560393232
|
|
NM_000222.3(KIT):c.1344G>C (p.Gln448His)
|
rs542718349
|
|
NM_000222.3(KIT):c.1346+3G>A
|
|
|
NM_000222.3(KIT):c.1348T>C (p.Cys450Arg)
|
|
|
NM_000222.3(KIT):c.1351T>A (p.Ser451Thr)
|
|
|
NM_000222.3(KIT):c.1352C>T (p.Ser451Phe)
|
rs1060502556
|
|
NM_000222.3(KIT):c.1354G>A (p.Ala452Thr)
|
|
|
NM_000222.3(KIT):c.1357T>G (p.Ser453Ala)
|
rs1722183922
|
|
NM_000222.3(KIT):c.1358C>T (p.Ser453Phe)
|
|
|
NM_000222.3(KIT):c.1360G>A (p.Val454Ile)
|
|
|
NM_000222.3(KIT):c.1360G>C (p.Val454Leu)
|
rs1560415938
|
|
NM_000222.3(KIT):c.1364T>G (p.Leu455Arg)
|
rs2109768115
|
|
NM_000222.3(KIT):c.1369G>A (p.Val457Met)
|
|
|
NM_000222.3(KIT):c.1372_1377del (p.Asp458_Val459del)
|
rs756523952
|
|
NM_000222.3(KIT):c.1373A>G (p.Asp458Gly)
|
rs1553891403
|
|
NM_000222.3(KIT):c.1373A>T (p.Asp458Val)
|
rs1553891403
|
|
NM_000222.3(KIT):c.1375G>A (p.Val459Met)
|
rs1722185482
|
|
NM_000222.3(KIT):c.1376T>C (p.Val459Ala)
|
rs1722185671
|
|
NM_000222.3(KIT):c.1376T>G (p.Val459Gly)
|
rs1722185671
|
|
NM_000222.3(KIT):c.1378C>G (p.Gln460Glu)
|
rs2109768305
|
|
NM_000222.3(KIT):c.1384C>A (p.Leu462Ile)
|
rs1722186242
|
|
NM_000222.3(KIT):c.1385T>C (p.Leu462Pro)
|
|
|
NM_000222.3(KIT):c.1387A>C (p.Asn463His)
|
rs1577992151
|
|
NM_000222.3(KIT):c.138A>C (p.Leu46Phe)
|
|
|
NM_000222.3(KIT):c.1393T>C (p.Ser465Pro)
|
|
|
NM_000222.3(KIT):c.1394C>A (p.Ser465Tyr)
|
|
|
NM_000222.3(KIT):c.1399C>T (p.Pro467Ser)
|
rs1722187399
|
|
NM_000222.3(KIT):c.13C>G (p.Arg5Gly)
|
rs1716939221
|
|
NM_000222.3(KIT):c.13C>T (p.Arg5Cys)
|
|
|
NM_000222.3(KIT):c.1403C>A (p.Pro468Gln)
|
rs200518498
|
|
NM_000222.3(KIT):c.1403C>T (p.Pro468Leu)
|
rs200518498
|
|
NM_000222.3(KIT):c.1407T>G (p.Phe469Leu)
|
rs1553891415
|
|
NM_000222.3(KIT):c.1409G>A (p.Gly470Glu)
|
|
|
NM_000222.3(KIT):c.1411A>C (p.Lys471Gln)
|
rs1471406283
|
|
NM_000222.3(KIT):c.1412A>C (p.Lys471Thr)
|
|
|
NM_000222.3(KIT):c.141A>G (p.Ile47Met)
|
|
|
NM_000222.3(KIT):c.1424A>T (p.Gln475Leu)
|
rs1577992299
|
|
NM_000222.3(KIT):c.1426A>G (p.Ser476Gly)
|
rs2109768856
|
|
NM_000222.3(KIT):c.1427G>C (p.Ser476Thr)
|
|
|
NM_000222.3(KIT):c.1430C>A (p.Ser477Tyr)
|
|
|
NM_000222.3(KIT):c.1430C>T (p.Ser477Phe)
|
rs2109768879
|
|
NM_000222.3(KIT):c.1441A>T (p.Ser481Cys)
|
|
|
NM_000222.3(KIT):c.1442G>A (p.Ser481Asn)
|
rs1057506392
|
|
NM_000222.3(KIT):c.1443T>G (p.Ser481Arg)
|
rs1553891429
|
|
NM_000222.3(KIT):c.1444G>C (p.Ala482Pro)
|
|
|
NM_000222.3(KIT):c.1444G>T (p.Ala482Ser)
|
rs1060502569
|
|
NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)
|
rs2109769025
|
|
NM_000222.3(KIT):c.1447T>A (p.Phe483Ile)
|
|
|
NM_000222.3(KIT):c.1449C>G (p.Phe483Leu)
|
rs1722191573
|
|
NM_000222.3(KIT):c.1453C>G (p.His485Asp)
|
|
|
NM_000222.3(KIT):c.1453C>T (p.His485Tyr)
|
rs1553891437
|
|
NM_000222.3(KIT):c.1454A>C (p.His485Pro)
|
rs1553891439
|
|
NM_000222.3(KIT):c.1455C>A (p.His485Gln)
|
rs1331885453
|
|
NM_000222.3(KIT):c.1457A>G (p.Asn486Ser)
|
|
|
NM_000222.3(KIT):c.1460G>A (p.Gly487Asp)
|
|
|
NM_000222.3(KIT):c.1462A>C (p.Thr488Pro)
|
rs748451770
|
|
NM_000222.3(KIT):c.146G>C (p.Arg49Pro)
|
rs376469897
|
|
NM_000222.3(KIT):c.1471T>C (p.Cys491Arg)
|
rs1722194127
|
|
NM_000222.3(KIT):c.1474A>G (p.Lys492Glu)
|
|
|
NM_000222.3(KIT):c.1477G>A (p.Ala493Thr)
|
rs1577992484
|
|
NM_000222.3(KIT):c.1480T>A (p.Tyr494Asn)
|
rs2109769353
|
|
NM_000222.3(KIT):c.1489G>C (p.Val497Leu)
|
rs1439977705
|
|
NM_000222.3(KIT):c.148G>A (p.Val50Met)
|
rs200950545
|
|
NM_000222.3(KIT):c.148G>C (p.Val50Leu)
|
rs200950545
|
|
NM_000222.3(KIT):c.148G>T (p.Val50Leu)
|
rs200950545
|
|
NM_000222.3(KIT):c.1490T>C (p.Val497Ala)
|
|
|
NM_000222.3(KIT):c.1499C>G (p.Thr500Ser)
|
rs200127012
|
|
NM_000222.3(KIT):c.14G>C (p.Arg5Pro)
|
rs1716939382
|
|
NM_000222.3(KIT):c.1504G>T (p.Ala502Ser)
|
|
|
NM_000222.3(KIT):c.1505C>T (p.Ala502Val)
|
rs2109769609
|
|
NM_000222.3(KIT):c.1514A>G (p.Asn505Ser)
|
|
|
NM_000222.3(KIT):c.1517T>C (p.Phe506Ser)
|
rs1722196973
|
|
NM_000222.3(KIT):c.1519G>T (p.Ala507Ser)
|
rs2109769739
|
|
NM_000222.3(KIT):c.151G>A (p.Gly51Ser)
|
rs1720006705
|
|
NM_000222.3(KIT):c.1520C>T (p.Ala507Val)
|
|
|
NM_000222.3(KIT):c.1522T>A (p.Phe508Ile)
|
rs2109769774
|
|
NM_000222.3(KIT):c.1523T>A (p.Phe508Tyr)
|
|
|
NM_000222.3(KIT):c.1523T>G (p.Phe508Cys)
|
rs2109769785
|
|
NM_000222.3(KIT):c.1529G>A (p.Gly510Asp)
|
rs2109769812
|
|
NM_000222.3(KIT):c.1533C>A (p.Asn511Lys)
|
rs1232688220
|
|
NM_000222.3(KIT):c.1533C>G (p.Asn511Lys)
|
|
|
NM_000222.3(KIT):c.1534A>G (p.Asn512Asp)
|
|
|
NM_000222.3(KIT):c.1535A>G (p.Asn512Ser)
|
rs1354751133
|
|
NM_000222.3(KIT):c.1536C>G (p.Asn512Lys)
|
|
|
NM_000222.3(KIT):c.1538A>G (p.Lys513Arg)
|
rs772813487
|
|
NM_000222.3(KIT):c.1539A>G (p.Lys513=)
|
rs1560416214
|
|
NM_000222.3(KIT):c.1540+3A>G
|
rs2109769927
|
|
NM_000222.3(KIT):c.1540+6T>C
|
rs1722199031
|
|
NM_000222.3(KIT):c.1540G>A (p.Glu514Lys)
|
|
|
NM_000222.3(KIT):c.1541-3T>C
|
rs1577994268
|
|
NM_000222.3(KIT):c.1544A>G (p.Gln515Arg)
|
|
|
NM_000222.3(KIT):c.1545A>C (p.Gln515His)
|
rs1722279802
|
|
NM_000222.3(KIT):c.1549C>T (p.His517Tyr)
|
rs1577994279
|
|
NM_000222.3(KIT):c.1552C>T (p.Pro518Ser)
|
rs1560416964
|
|
NM_000222.3(KIT):c.1558A>G (p.Thr520Ala)
|
rs2109773782
|
|
NM_000222.3(KIT):c.1559C>T (p.Thr520Ile)
|
rs2109773801
|
|
NM_000222.3(KIT):c.1564T>A (p.Phe522Ile)
|
rs144610991
|
|
NM_000222.3(KIT):c.1567A>G (p.Thr523Ala)
|
rs1326565450
|
|
NM_000222.3(KIT):c.1568C>T (p.Thr523Ile)
|
rs772866513
|
|
NM_000222.3(KIT):c.1577T>C (p.Leu526Pro)
|
|
|
NM_000222.3(KIT):c.1579A>C (p.Ile527Leu)
|
rs1722282395
|
|
NM_000222.3(KIT):c.1580T>C (p.Ile527Thr)
|
rs1448107053
|
|
NM_000222.3(KIT):c.1586T>C (p.Phe529Ser)
|
rs2109774060
|
|
NM_000222.3(KIT):c.1586T>G (p.Phe529Cys)
|
rs2109774060
|
|
NM_000222.3(KIT):c.1587C>G (p.Phe529Leu)
|
|
|
NM_000222.3(KIT):c.1588G>C (p.Val530Leu)
|
rs72550822
|
|
NM_000222.3(KIT):c.1588G>T (p.Val530Leu)
|
|
|
NM_000222.3(KIT):c.1597G>A (p.Ala533Thr)
|
rs1722284528
|
|
NM_000222.3(KIT):c.1598C>G (p.Ala533Gly)
|
rs753212327
|
|
NM_000222.3(KIT):c.159G>T (p.Glu53Asp)
|
rs749431345
|
|
NM_000222.3(KIT):c.1603A>G (p.Met535Val)
|
rs2109774247
|
|
NM_000222.3(KIT):c.1604T>C (p.Met535Thr)
|
rs763411938
|
|
NM_000222.3(KIT):c.1605G>A (p.Met535Ile)
|
rs764493206
|
|
NM_000222.3(KIT):c.160A>G (p.Ile54Val)
|
rs1560393393
|
|
NM_000222.3(KIT):c.1610G>A (p.Cys537Tyr)
|
|
|
NM_000222.3(KIT):c.1612A>C (p.Ile538Leu)
|
|
|
NM_000222.3(KIT):c.1612A>G (p.Ile538Val)
|
rs1560417124
|
|
NM_000222.3(KIT):c.1612ATT[1] (p.Ile539del)
|
|
|
NM_000222.3(KIT):c.1615A>C (p.Ile539Leu)
|
rs1476093811
|
|
NM_000222.3(KIT):c.1615A>G (p.Ile539Val)
|
rs1476093811
|
|
NM_000222.3(KIT):c.1618G>A (p.Val540Met)
|
rs756179543
|
|
NM_000222.3(KIT):c.1618G>T (p.Val540Leu)
|
rs756179543
|
|
NM_000222.3(KIT):c.1619T>C (p.Val540Ala)
|
rs2109774397
|
|
NM_000222.3(KIT):c.1622T>C (p.Met541Thr)
|
rs2109774437
|
|
NM_000222.3(KIT):c.1624A>T (p.Ile542Phe)
|
rs1553891698
|
|
NM_000222.3(KIT):c.1626T>G (p.Ile542Met)
|
rs1722288511
|
|
NM_000222.3(KIT):c.162T>G (p.Ile54Met)
|
rs2109661187
|
|
NM_000222.3(KIT):c.1630A>G (p.Thr544Ala)
|
|
|
NM_000222.3(KIT):c.1631C>T (p.Thr544Ile)
|
rs1577994552
|
|
NM_000222.3(KIT):c.1633T>G (p.Tyr545Asp)
|
|
|
NM_000222.3(KIT):c.1637A>G (p.Lys546Arg)
|
rs1722289602
|
|
NM_000222.3(KIT):c.1637A>T (p.Lys546Ile)
|
rs1722289602
|
|
NM_000222.3(KIT):c.1638A>T (p.Lys546Asn)
|
rs55986963
|
|
NM_000222.3(KIT):c.1647+4A>G
|
rs770472485
|
|
NM_000222.3(KIT):c.1647+5C>A
|
rs553336667
|
|
NM_000222.3(KIT):c.1647+5C>G
|
|
|
NM_000222.3(KIT):c.1647+5C>T
|
rs553336667
|
|
NM_000222.3(KIT):c.1648-3C>T
|
rs1722298670
|
|
NM_000222.3(KIT):c.164G>A (p.Arg55Lys)
|
rs1720008828
|
|
NM_000222.3(KIT):c.1651C>A (p.Pro551Thr)
|
rs1722299272
|
|
NM_000222.3(KIT):c.1652C>T (p.Pro551Leu)
|
rs1722299442
|
|
NM_000222.3(KIT):c.1654A>T (p.Met552Leu)
|
rs777596975
|
|
NM_000222.3(KIT):c.1655T>A (p.Met552Lys)
|
|
|
NM_000222.3(KIT):c.1656G>C (p.Met552Ile)
|
rs1482011071
|
|
NM_000222.3(KIT):c.1657T>G (p.Tyr553Asp)
|
|
|
NM_000222.3(KIT):c.1658A>G (p.Tyr553Cys)
|
rs1553891726
|
|
NM_000222.3(KIT):c.1662A>C (p.Glu554Asp)
|
rs1577994816
|
|
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu)
|
rs1722301014
|
|
NM_000222.3(KIT):c.1667A>G (p.Gln556Arg)
|
|
|
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly)
|
rs121913235
|
|
NM_000222.3(KIT):c.166C>G (p.Leu56Val)
|
|
|
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser)
|
rs1057520032
|
|
NM_000222.3(KIT):c.1674G>C (p.Lys558Asn)
|
rs200375589
|
|
NM_000222.3(KIT):c.1675G>A (p.Val559Ile)
|
rs121913520
|
|
NM_000222.3(KIT):c.1675G>T (p.Val559Phe)
|
rs121913520
|
|
NM_000222.3(KIT):c.1678G>A (p.Val560Ile)
|
rs1577994961
|
|
NM_000222.3(KIT):c.1678G>T (p.Val560Phe)
|
rs1577994961
|
|
NM_000222.3(KIT):c.1678_1728del (p.Val560_Leu576del)
|
rs1553891755
|
|
NM_000222.3(KIT):c.1679T>C (p.Val560Ala)
|
rs121913521
|
|
NM_000222.3(KIT):c.1681G>A (p.Glu561Lys)
|
rs1722307003
|
|
NM_000222.3(KIT):c.1681GAG[1] (p.Glu562del)
|
rs1722307508
|
|
NM_000222.3(KIT):c.1686G>C (p.Glu562Asp)
|
rs1553891764
|
|
NM_000222.3(KIT):c.1688T>C (p.Ile563Thr)
|
rs780708976
|
|
NM_000222.3(KIT):c.1689A>G (p.Ile563Met)
|
rs1553891768
|
|
NM_000222.3(KIT):c.1691A>G (p.Asn564Ser)
|
rs769483857
|
|
NM_000222.3(KIT):c.1693G>A (p.Gly565Arg)
|
rs1299476898
|
|
NM_000222.3(KIT):c.1694G>A (p.Gly565Glu)
|
rs200945282
|
|
NM_000222.3(KIT):c.1697A>G (p.Asn566Ser)
|
rs1722309800
|
|
NM_000222.3(KIT):c.1699A>C (p.Asn567His)
|
rs1722309959
|
|
NM_000222.3(KIT):c.16G>A (p.Gly6Ser)
|
|
|
NM_000222.3(KIT):c.1700A>G (p.Asn567Ser)
|
rs1016976398
|
|
NM_000222.3(KIT):c.1700A>T (p.Asn567Ile)
|
rs1016976398
|
|
NM_000222.3(KIT):c.1702T>G (p.Tyr568Asp)
|
rs1722310323
|
|
NM_000222.3(KIT):c.1704_1715del (p.Val569_Asp572del)
|
|
|
NM_000222.3(KIT):c.1705G>A (p.Val569Ile)
|
|
|
NM_000222.3(KIT):c.1708T>C (p.Tyr570His)
|
|
|
NM_000222.3(KIT):c.1709A>G (p.Tyr570Cys)
|
|
|
NM_000222.3(KIT):c.1714G>C (p.Asp572His)
|
|
|
NM_000222.3(KIT):c.1716C>A (p.Asp572Glu)
|
|
|
NM_000222.3(KIT):c.1716C>G (p.Asp572Glu)
|
|
|
NM_000222.3(KIT):c.1717_1719dup (p.Pro573_Thr574insPro)
|
|
|
NM_000222.3(KIT):c.1718C>A (p.Pro573Gln)
|
rs1722312031
|
|
NM_000222.3(KIT):c.1720A>G (p.Thr574Ala)
|
rs1060502550
|
|
NM_000222.3(KIT):c.1726C>G (p.Leu576Val)
|
rs1313877141
|
|
NM_000222.3(KIT):c.1726C>T (p.Leu576Phe)
|
rs1313877141
|
|
NM_000222.3(KIT):c.1729C>T (p.Pro577Ser)
|
|
|
NM_000222.3(KIT):c.1730C>T (p.Pro577Leu)
|
|
|
NM_000222.3(KIT):c.1733A>G (p.Tyr578Cys)
|
|
|
NM_000222.3(KIT):c.1736A>T (p.Asp579Val)
|
|
|
NM_000222.3(KIT):c.1737T>A (p.Asp579Glu)
|
rs773366034
|
|
NM_000222.3(KIT):c.1738C>G (p.His580Asp)
|
rs1437044852
|
|
NM_000222.3(KIT):c.1738C>T (p.His580Tyr)
|
rs1437044852
|
|
NM_000222.3(KIT):c.1752T>G (p.Phe584Leu)
|
rs794726671
|
|
NM_000222.3(KIT):c.175A>G (p.Thr59Ala)
|
rs747004948
|
|
NM_000222.3(KIT):c.1760A>G (p.Asn587Ser)
|
rs1577995255
|
|
NM_000222.3(KIT):c.1765C>T (p.Leu589=)
|
rs2109777481
|
|
NM_000222.3(KIT):c.1774+3C>A
|
|
|
NM_000222.3(KIT):c.1774+4A>G
|
rs2109777597
|
|
NM_000222.3(KIT):c.1774+5G>C
|
|
|
NM_000222.3(KIT):c.1775-3C>T
|
rs2109779202
|
|
NM_000222.3(KIT):c.1775-6C>G
|
rs2109779177
|
|
NM_000222.3(KIT):c.1775G>T (p.Gly592Val)
|
rs2109779212
|
|
NM_000222.3(KIT):c.1780A>C (p.Thr594Pro)
|
rs2109779265
|
|
NM_000222.3(KIT):c.1781C>A (p.Thr594Asn)
|
|
|
NM_000222.3(KIT):c.17G>A (p.Gly6Asp)
|
rs1716939970
|
|
NM_000222.3(KIT):c.1810G>A (p.Val604Ile)
|
rs2109779617
|
|
NM_000222.3(KIT):c.1813G>A (p.Glu605Lys)
|
rs1722339125
|
|
NM_000222.3(KIT):c.1814A>C (p.Glu605Ala)
|
rs1553891888
|
|
NM_000222.3(KIT):c.1816G>A (p.Ala606Thr)
|
rs1577995854
|
|
NM_000222.3(KIT):c.181C>T (p.Pro61Ser)
|
rs1720010283
|
|
NM_000222.3(KIT):c.1829G>A (p.Gly610Asp)
|
|
|
NM_000222.3(KIT):c.1834A>G (p.Ile612Val)
|
|
|
NM_000222.3(KIT):c.1837A>G (p.Lys613Glu)
|
rs2109779899
|
|
NM_000222.3(KIT):c.1846G>A (p.Ala616Thr)
|
|
|
NM_000222.3(KIT):c.1847C>A (p.Ala616Glu)
|
rs891140054
|
|
NM_000222.3(KIT):c.1847C>G (p.Ala616Gly)
|
|
|
NM_000222.3(KIT):c.1850C>A (p.Ala617Asp)
|
|
|
NM_000222.3(KIT):c.1852A>C (p.Met618Leu)
|
|
|
NM_000222.3(KIT):c.1852A>G (p.Met618Val)
|
rs760939861
|
|
NM_000222.3(KIT):c.1853T>C (p.Met618Thr)
|
rs111466688
|
|
NM_000222.3(KIT):c.1856C>A (p.Thr619Asn)
|
|
|
NM_000222.3(KIT):c.1856C>T (p.Thr619Ile)
|
rs1294929758
|
|
NM_000222.3(KIT):c.185G>A (p.Gly62Asp)
|
rs1720011052
|
|
NM_000222.3(KIT):c.1862C>T (p.Ala621Val)
|
|
|
NM_000222.3(KIT):c.1873C>G (p.Leu625Val)
|
|
|
NM_000222.3(KIT):c.1873C>T (p.Leu625Phe)
|
rs2109780295
|
|
NM_000222.3(KIT):c.1876A>G (p.Lys626Glu)
|
rs1722343399
|
|
NM_000222.3(KIT):c.1879+16_1879+25del
|
|
|
NM_000222.3(KIT):c.1879+20T>G
|
|
|
NM_000222.3(KIT):c.1879C>A (p.Pro627Thr)
|
rs1032761406
|
|
NM_000222.3(KIT):c.1880-3T>C
|
rs1722349289
|
|
NM_000222.3(KIT):c.1880C>T (p.Pro627Leu)
|
rs1722349520
|
|
NM_000222.3(KIT):c.1883G>A (p.Ser628Asn)
|
rs2109781181
|
|
NM_000222.3(KIT):c.188T>C (p.Phe63Ser)
|
rs1349391161
|
|
NM_000222.3(KIT):c.1895C>T (p.Thr632Ile)
|
rs1553891944
|
|
NM_000222.3(KIT):c.1898A>T (p.Glu633Val)
|
rs1722351186
|
|
NM_000222.3(KIT):c.1900C>T (p.Arg634Trp)
|
rs144369407
|
|
NM_000222.3(KIT):c.1901G>T (p.Arg634Leu)
|
|
|
NM_000222.3(KIT):c.1912A>C (p.Met638Leu)
|
|
|
NM_000222.3(KIT):c.1914G>A (p.Met638Ile)
|
rs1722352667
|
|
NM_000222.3(KIT):c.1916C>T (p.Ser639Phe)
|
rs2109781531
|
|
NM_000222.3(KIT):c.191T>C (p.Val64Ala)
|
|
|
NM_000222.3(KIT):c.1924A>C (p.Lys642Gln)
|
|
|
NM_000222.3(KIT):c.1925A>C (p.Lys642Thr)
|
|
|
NM_000222.3(KIT):c.1926A>G (p.Lys642=)
|
rs1057519907
|
|
NM_000222.3(KIT):c.1934G>C (p.Ser645Thr)
|
rs1060502566
|
|
NM_000222.3(KIT):c.1937A>G (p.Tyr646Cys)
|
rs2109781765
|
|
NM_000222.3(KIT):c.193A>G (p.Lys65Glu)
|
rs1407600939
|
|
NM_000222.3(KIT):c.1943G>A (p.Gly648Asp)
|
|
|
NM_000222.3(KIT):c.1946A>G (p.Asn649Ser)
|
rs1722355003
|
|
NM_000222.3(KIT):c.194A>G (p.Lys65Arg)
|
rs1560393475
|
|
NM_000222.3(KIT):c.194A>T (p.Lys65Ile)
|
rs1560393475
|
|
NM_000222.3(KIT):c.1951A>G (p.Met651Val)
|
rs534209826
|
|
NM_000222.3(KIT):c.1952T>A (p.Met651Lys)
|
rs1374100918
|
|
NM_000222.3(KIT):c.1952T>C (p.Met651Thr)
|
rs1374100918
|
|
NM_000222.3(KIT):c.1952T>G (p.Met651Arg)
|
|
|
NM_000222.3(KIT):c.1954A>C (p.Asn652His)
|
rs1473859499
|
|
NM_000222.3(KIT):c.1954A>T (p.Asn652Tyr)
|
rs1473859499
|
|
NM_000222.3(KIT):c.1955A>G (p.Asn652Ser)
|
rs2109781952
|
|
NM_000222.3(KIT):c.1961T>C (p.Val654Ala)
|
rs121913523
|
|
NM_000222.3(KIT):c.1975G>A (p.Ala659Thr)
|
rs2109782151
|
|
NM_000222.3(KIT):c.1984A>C (p.Ile662Leu)
|
rs1439996385
|
|
NM_000222.3(KIT):c.1984A>G (p.Ile662Val)
|
rs1439996385
|
|
NM_000222.3(KIT):c.1990+4A>G
|
rs1032874703
|
|
NM_000222.3(KIT):c.1990+5A>T
|
|
|
NM_000222.3(KIT):c.1990+6G>C
|
rs2109782325
|
|
NM_000222.3(KIT):c.1991-5T>A
|
rs1560419281
|
|
NM_000222.3(KIT):c.1991-5T>G
|
rs1560419281
|
|
NM_000222.3(KIT):c.1999C>G (p.Leu667Val)
|
rs760685128
|
|
NM_000222.3(KIT):c.199A>G (p.Thr67Ala)
|
rs139441923
|
|
NM_000222.3(KIT):c.199A>T (p.Thr67Ser)
|
|
|
NM_000222.3(KIT):c.19G>A (p.Ala7Thr)
|
rs1285711357
|
|
NM_000222.3(KIT):c.19G>T (p.Ala7Ser)
|
rs1285711357
|
|
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile)
|
rs121913516
|
|
NM_000222.3(KIT):c.2024A>G (p.Tyr675Cys)
|
rs764970586
|
|
NM_000222.3(KIT):c.2032C>A (p.Leu678Ile)
|
|
|
NM_000222.3(KIT):c.2038A>G (p.Asn680Asp)
|
rs1722438764
|
|
NM_000222.3(KIT):c.203T>C (p.Phe68Ser)
|
rs2109661613
|
|
NM_000222.3(KIT):c.2040T>G (p.Asn680Lys)
|
rs1722438930
|
|
NM_000222.3(KIT):c.2041T>A (p.Phe681Ile)
|
rs1560419344
|
|
NM_000222.3(KIT):c.2041T>C (p.Phe681Leu)
|
|
|
NM_000222.3(KIT):c.2042T>A (p.Phe681Tyr)
|
|
|
NM_000222.3(KIT):c.2046G>C (p.Leu682Phe)
|
rs2109786269
|
|
NM_000222.3(KIT):c.2050A>G (p.Arg684Gly)
|
|
|
NM_000222.3(KIT):c.2052A>T (p.Arg684Ser)
|
rs1553892213
|
|
NM_000222.3(KIT):c.2057G>T (p.Arg686Leu)
|
rs143772138
|
|
NM_000222.3(KIT):c.2060A>T (p.Asp687Val)
|
|
|
NM_000222.3(KIT):c.2067T>A (p.Phe689Leu)
|
rs2109786466
|
|
NM_000222.3(KIT):c.2072G>A (p.Cys691Tyr)
|
|
|
NM_000222.3(KIT):c.2079G>C (p.Lys693Asn)
|
rs2109786557
|
|
NM_000222.3(KIT):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000222.3(KIT):c.2083G>C (p.Glu695Gln)
|
rs1277986442
|
|
NM_000222.3(KIT):c.2087A>T (p.Asp696Val)
|
rs1722444395
|
|
NM_000222.3(KIT):c.2089C>A (p.His697Asn)
|
rs763308199
|
|
NM_000222.3(KIT):c.208A>T (p.Ile70Phe)
|
rs1577952856
|
|
NM_000222.3(KIT):c.2090A>T (p.His697Leu)
|
|
|
NM_000222.3(KIT):c.2092G>T (p.Ala698Ser)
|
rs756394678
|
|
NM_000222.3(KIT):c.2093C>A (p.Ala698Glu)
|
rs780329057
|
|
NM_000222.3(KIT):c.2093C>G (p.Ala698Gly)
|
rs780329057
|
|
NM_000222.3(KIT):c.2098G>A (p.Ala700Thr)
|
rs1722446052
|
|
NM_000222.3(KIT):c.2099C>T (p.Ala700Val)
|
rs1722446325
|
|
NM_000222.3(KIT):c.20C>T (p.Ala7Val)
|
rs2109520869
|
|
NM_000222.3(KIT):c.2102C>A (p.Ala701Glu)
|
|
|
NM_000222.3(KIT):c.2102C>G (p.Ala701Gly)
|
|
|
NM_000222.3(KIT):c.2102C>T (p.Ala701Val)
|
|
|
NM_000222.3(KIT):c.2104C>T (p.Leu702Phe)
|
rs768847037
|
|
NM_000222.3(KIT):c.2108A>C (p.Tyr703Ser)
|
|
|
NM_000222.3(KIT):c.2108A>T (p.Tyr703Phe)
|
rs771012963
|
|
NM_000222.3(KIT):c.2110A>G (p.Lys704Glu)
|
|
|
NM_000222.3(KIT):c.2111A>G (p.Lys704Arg)
|
rs1553892256
|
|
NM_000222.3(KIT):c.2113A>C (p.Asn705His)
|
rs1722448939
|
|
NM_000222.3(KIT):c.2114A>G (p.Asn705Ser)
|
rs1722449103
|
|
NM_000222.3(KIT):c.2116C>A (p.Leu706Ile)
|
|
|
NM_000222.3(KIT):c.2116C>T (p.Leu706Phe)
|
rs1577998119
|
|
NM_000222.3(KIT):c.2117T>C (p.Leu706Pro)
|
|
|
NM_000222.3(KIT):c.2119C>G (p.Leu707Val)
|
|
|
NM_000222.3(KIT):c.2119_2139dup (p.Leu707_Ser713dup)
|
rs1722449916
|
|
NM_000222.3(KIT):c.211C>G (p.Leu71Val)
|
rs1720013807
|
|
NM_000222.3(KIT):c.2126C>T (p.Ser709Leu)
|
rs1722451112
|
|
NM_000222.3(KIT):c.2129A>G (p.Lys710Arg)
|
|
|
NM_000222.3(KIT):c.2131G>A (p.Glu711Lys)
|
rs1060502544
|
|
NM_000222.3(KIT):c.2132A>C (p.Glu711Ala)
|
rs374262491
|
|
NM_000222.3(KIT):c.2132A>G (p.Glu711Gly)
|
|
|
NM_000222.3(KIT):c.2133G>T (p.Glu711Asp)
|
rs1722452309
|
|
NM_000222.3(KIT):c.2134T>C (p.Ser712Pro)
|
rs2109787139
|
|
NM_000222.3(KIT):c.2138C>G (p.Ser713Cys)
|
rs775274159
|
|
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)
|
rs775274159
|
|
NM_000222.3(KIT):c.2140T>C (p.Cys714Arg)
|
rs1577998219
|
|
NM_000222.3(KIT):c.2141+3A>G
|
rs1722453185
|
|
NM_000222.3(KIT):c.2142-10T>G
|
|
|
NM_000222.3(KIT):c.2142-3C>G
|
rs1722581397
|
|
NM_000222.3(KIT):c.2142-3C>T
|
|
|
NM_000222.3(KIT):c.2146G>T (p.Asp716Tyr)
|
rs769701248
|
|
NM_000222.3(KIT):c.2147A>G (p.Asp716Gly)
|
rs1722582575
|
|
NM_000222.3(KIT):c.2150G>T (p.Ser717Ile)
|
|
|
NM_000222.3(KIT):c.2155A>C (p.Asn719His)
|
rs1560420768
|
|
NM_000222.3(KIT):c.2155A>G (p.Asn719Asp)
|
rs1560420768
|
|
NM_000222.3(KIT):c.2155_2157del (p.Asn719del)
|
rs2109792203
|
|
NM_000222.3(KIT):c.2160G>T (p.Glu720Asp)
|
rs372359131
|
|
NM_000222.3(KIT):c.2162A>G (p.Tyr721Cys)
|
rs2109792277
|
|
NM_000222.3(KIT):c.2164A>G (p.Met722Val)
|
rs1255211227
|
|
NM_000222.3(KIT):c.2166G>A (p.Met722Ile)
|
rs1722584431
|
|
NM_000222.3(KIT):c.2167G>C (p.Asp723His)
|
rs2109792314
|
|
NM_000222.3(KIT):c.2167G>T (p.Asp723Tyr)
|
rs2109792314
|
|
NM_000222.3(KIT):c.2170A>G (p.Met724Val)
|
rs1560420790
|
|
NM_000222.3(KIT):c.2175A>C (p.Lys725Asn)
|
rs1578000466
|
|
NM_000222.3(KIT):c.2177C>G (p.Pro726Arg)
|
|
|
NM_000222.3(KIT):c.2177C>T (p.Pro726Leu)
|
|
|
NM_000222.3(KIT):c.2179G>A (p.Gly727Arg)
|
|
|
NM_000222.3(KIT):c.2179G>C (p.Gly727Arg)
|
rs1722585213
|
|
NM_000222.3(KIT):c.2180G>T (p.Gly727Val)
|
rs1722585375
|
|
NM_000222.3(KIT):c.2182G>A (p.Val728Ile)
|
rs1722585601
|
|
NM_000222.3(KIT):c.2187T>G (p.Ser729=)
|
rs2109792494
|
|
NM_000222.3(KIT):c.2189A>T (p.Tyr730Phe)
|
rs1722586142
|
|
NM_000222.3(KIT):c.2191G>C (p.Val731Leu)
|
rs2109792516
|
|
NM_000222.3(KIT):c.2194G>T (p.Val732Phe)
|
rs1722586672
|
|
NM_000222.3(KIT):c.2200A>G (p.Thr734Ala)
|
|
|
NM_000222.3(KIT):c.2201C>G (p.Thr734Ser)
|
rs2109792602
|
|
NM_000222.3(KIT):c.2212A>C (p.Lys738Gln)
|
|
|
NM_000222.3(KIT):c.2215A>G (p.Arg739Gly)
|
rs1722589058
|
|
NM_000222.3(KIT):c.2216G>A (p.Arg739Lys)
|
|
|
NM_000222.3(KIT):c.2220A>G (p.Arg740=)
|
rs1722589766
|
|
NM_000222.3(KIT):c.2221T>A (p.Ser741Thr)
|
|
|
NM_000222.3(KIT):c.2228G>A (p.Arg743Lys)
|
rs1722590234
|
|
NM_000222.3(KIT):c.2230A>G (p.Ile744Val)
|
|
|
NM_000222.3(KIT):c.2233+3dup
|
rs1722590741
|
|
NM_000222.3(KIT):c.2233+4A>T
|
rs1722590870
|
|
NM_000222.3(KIT):c.2233+6T>G
|
rs1722591025
|
|
NM_000222.3(KIT):c.2234-3C>A
|
rs370131461
|
|
NM_000222.3(KIT):c.2234G>T (p.Gly745Val)
|
rs2109794840
|
|
NM_000222.3(KIT):c.2234_2235delinsAA (p.Gly745Glu)
|
|
|
NM_000222.3(KIT):c.2237C>T (p.Ser746Leu)
|
rs1722618479
|
|
NM_000222.3(KIT):c.2239T>C (p.Tyr747His)
|
rs2109794892
|
|
NM_000222.3(KIT):c.2240A>G (p.Tyr747Cys)
|
rs1722618891
|
|
NM_000222.3(KIT):c.2242A>G (p.Ile748Val)
|
rs1317162648
|
|
NM_000222.3(KIT):c.2244A>G (p.Ile748Met)
|
rs1722619954
|
|
NM_000222.3(KIT):c.2245G>A (p.Glu749Lys)
|
rs1560421189
|
|
NM_000222.3(KIT):c.2245G>C (p.Glu749Gln)
|
rs1560421189
|
|
NM_000222.3(KIT):c.2246A>C (p.Glu749Ala)
|
rs1158253739
|
|
NM_000222.3(KIT):c.2246A>T (p.Glu749Val)
|
rs1158253739
|
|
NM_000222.3(KIT):c.2249G>A (p.Arg750Lys)
|
rs1060502554
|
|
NM_000222.3(KIT):c.2254G>A (p.Val752Met)
|
|
|
NM_000222.3(KIT):c.2255T>C (p.Val752Ala)
|
rs758665590
|
|
NM_000222.3(KIT):c.2258C>T (p.Thr753Ile)
|
rs1722621198
|
|
NM_000222.3(KIT):c.2260C>T (p.Pro754Ser)
|
rs1553892672
|
|
NM_000222.3(KIT):c.2261C>G (p.Pro754Arg)
|
|
|
NM_000222.3(KIT):c.2263G>T (p.Ala755Ser)
|
rs201165084
|
|
NM_000222.3(KIT):c.2266A>T (p.Ile756Phe)
|
rs779862483
|
|
NM_000222.3(KIT):c.2269A>G (p.Met757Val)
|
rs1722622985
|
|
NM_000222.3(KIT):c.2275G>A (p.Asp759Asn)
|
rs754826149
|
|
NM_000222.3(KIT):c.2276A>G (p.Asp759Gly)
|
|
|
NM_000222.3(KIT):c.2279A>T (p.Asp760Val)
|
rs747847018
|
|
NM_000222.3(KIT):c.2280_2282del (p.Asp760del)
|
rs2109795352
|
|
NM_000222.3(KIT):c.2287G>A (p.Ala763Thr)
|
|
|
NM_000222.3(KIT):c.2291T>C (p.Leu764Pro)
|
rs1553892703
|
|
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)
|
rs1060502545
|
|
NM_000222.3(KIT):c.2295C>G (p.Asp765Glu)
|
rs1398046219
|
|
NM_000222.3(KIT):c.2299G>A (p.Glu767Lys)
|
|
|
NM_000222.3(KIT):c.229A>G (p.Asn77Asp)
|
|
|
NM_000222.3(KIT):c.22T>A (p.Trp8Arg)
|
rs1577898533
|
|
NM_000222.3(KIT):c.22T>C (p.Trp8Arg)
|
rs1577898533
|
|
NM_000222.3(KIT):c.2302G>C (p.Asp768His)
|
|
|
NM_000222.3(KIT):c.2310_2311delinsTT (p.Ser771Cys)
|
|
|
NM_000222.3(KIT):c.2311A>G (p.Ser771Gly)
|
rs1722625754
|
|
NM_000222.3(KIT):c.2312G>A (p.Ser771Asn)
|
|
|
NM_000222.3(KIT):c.2317T>G (p.Ser773Ala)
|
|
|
NM_000222.3(KIT):c.231T>G (p.Asn77Lys)
|
|
|
NM_000222.3(KIT):c.2320T>C (p.Tyr774His)
|
rs2109795750
|
|
NM_000222.3(KIT):c.2321A>C (p.Tyr774Ser)
|
rs1553892709
|
|
NM_000222.3(KIT):c.2325G>C (p.Gln775His)
|
|
|
NM_000222.3(KIT):c.2329G>T (p.Ala777Ser)
|
|
|
NM_000222.3(KIT):c.2337C>T (p.Gly779=)
|
rs878853764
|
|
NM_000222.3(KIT):c.2338A>G (p.Met780Val)
|
|
|
NM_000222.3(KIT):c.2339T>C (p.Met780Thr)
|
rs1379168487
|
|
NM_000222.3(KIT):c.233A>G (p.Lys78Arg)
|
rs1720015087
|
|
NM_000222.3(KIT):c.2347C>G (p.Leu783Val)
|
rs1379848125
|
|
NM_000222.3(KIT):c.2350G>T (p.Ala784Ser)
|
rs1309976246
|
|
NM_000222.3(KIT):c.2351C>A (p.Ala784Asp)
|
|
|
NM_000222.3(KIT):c.2351C>G (p.Ala784Gly)
|
|
|
NM_000222.3(KIT):c.2354C>T (p.Ser785Phe)
|
rs1722629110
|
|
NM_000222.3(KIT):c.2357A>G (p.Lys786Arg)
|
rs2109796131
|
|
NM_000222.3(KIT):c.2358_2359delinsTT (p.Lys786_Asn787delinsAsnTyr)
|
rs587778432
|
|
NM_000222.3(KIT):c.2361+4A>G
|
|
|
NM_000222.3(KIT):c.2362-9A>G
|
|
|
NM_000222.3(KIT):c.2363G>A (p.Cys788Tyr)
|
|
|
NM_000222.3(KIT):c.2371A>G (p.Arg791Gly)
|
rs1722708855
|
|
NM_000222.3(KIT):c.2377T>A (p.Leu793Met)
|
rs558702741
|
|
NM_000222.3(KIT):c.2377T>G (p.Leu793Val)
|
rs558702741
|
|
NM_000222.3(KIT):c.237G>T (p.Gln79His)
|
rs1720015461
|
|
NM_000222.3(KIT):c.2390A>C (p.Asn797Thr)
|
|
|
NM_000222.3(KIT):c.2390A>G (p.Asn797Ser)
|
rs2109801201
|
|
NM_000222.3(KIT):c.2393T>C (p.Ile798Thr)
|
rs1722709591
|
|
NM_000222.3(KIT):c.2393_2407del (p.Ile798_Gly803delinsSer)
|
rs2109801246
|
|
NM_000222.3(KIT):c.240T>A (p.Asn80Lys)
|
rs1553887329
|
|
NM_000222.3(KIT):c.2411G>T (p.Arg804Leu)
|
|
|
NM_000222.3(KIT):c.2414T>C (p.Ile805Thr)
|
|
|
NM_000222.3(KIT):c.2416A>G (p.Thr806Ala)
|
rs1722711199
|
|
NM_000222.3(KIT):c.2417C>T (p.Thr806Ile)
|
rs1722711365
|
|
NM_000222.3(KIT):c.2425T>G (p.Cys809Gly)
|
rs1722711529
|
|
NM_000222.3(KIT):c.2435G>C (p.Gly812Ala)
|
|
|
NM_000222.3(KIT):c.243A>C (p.Glu81Asp)
|
|
|
NM_000222.3(KIT):c.2446G>A (p.Asp816Asn)
|
|
|
NM_000222.3(KIT):c.2447A>G (p.Asp816Gly)
|
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000222.3(KIT):c.2453A>G (p.Lys818Arg)
|
rs1722712959
|
|
NM_000222.3(KIT):c.2455A>G (p.Asn819Asp)
|
|
|
NM_000222.3(KIT):c.2459A>C (p.Asp820Ala)
|
rs121913682
|
|
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)
|
rs121913682
|
|
NM_000222.3(KIT):c.2462C>G (p.Ser821Cys)
|
rs1722713882
|
|
NM_000222.3(KIT):c.2464A>T (p.Asn822Tyr)
|
|
|
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.246G>C (p.Trp82Cys)
|
|
|
NM_000222.3(KIT):c.2470G>A (p.Val824Met)
|
|
|
NM_000222.3(KIT):c.2479G>C (p.Gly827Arg)
|
|
|
NM_000222.3(KIT):c.2482A>G (p.Asn828Asp)
|
rs1060502557
|
|
NM_000222.3(KIT):c.2483A>G (p.Asn828Ser)
|
rs1560422319
|
|
NM_000222.3(KIT):c.2484C>G (p.Asn828Lys)
|
rs141347955
|
|
NM_000222.3(KIT):c.2485-3C>T
|
|
|
NM_000222.3(KIT):c.2488C>G (p.Arg830Gly)
|
|
|
NM_000222.3(KIT):c.2489G>C (p.Arg830Pro)
|
rs772311731
|
|
NM_000222.3(KIT):c.2506A>G (p.Met836Val)
|
rs1722930635
|
|
NM_000222.3(KIT):c.250A>G (p.Thr84Ala)
|
rs1060502560
|
|
NM_000222.3(KIT):c.250A>T (p.Thr84Ser)
|
rs1060502560
|
|
NM_000222.3(KIT):c.2512C>A (p.Pro838Thr)
|
rs2109811068
|
|
NM_000222.3(KIT):c.2512C>T (p.Pro838Ser)
|
|
|
NM_000222.3(KIT):c.2513C>T (p.Pro838Leu)
|
rs1722930772
|
|
NM_000222.3(KIT):c.251C>A (p.Thr84Lys)
|
rs201872586
|
|
NM_000222.3(KIT):c.2528A>G (p.Asn843Ser)
|
rs1560424620
|
|
NM_000222.3(KIT):c.252G>A (p.Thr84=)
|
rs56411694
|
|
NM_000222.3(KIT):c.2531G>A (p.Cys844Tyr)
|
rs147609111
|
|
NM_000222.3(KIT):c.2531G>C (p.Cys844Ser)
|
rs147609111
|
|
NM_000222.3(KIT):c.2533G>A (p.Val845Ile)
|
|
|
NM_000222.3(KIT):c.2539A>G (p.Thr847Ala)
|
rs121913687
|
|
NM_000222.3(KIT):c.2546A>C (p.Glu849Ala)
|
|
|
NM_000222.3(KIT):c.2546A>G (p.Glu849Gly)
|
rs763847901
|
|
NM_000222.3(KIT):c.2547A>T (p.Glu849Asp)
|
rs1722932942
|
|
NM_000222.3(KIT):c.2554G>C (p.Val852Leu)
|
|
|
NM_000222.3(KIT):c.2560T>G (p.Ser854Ala)
|
|
|
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)
|
rs1722933723
|
|
NM_000222.3(KIT):c.256A>G (p.Lys86Glu)
|
rs1720017544
|
|
NM_000222.3(KIT):c.2570T>A (p.Ile857Asn)
|
|
|
NM_000222.3(KIT):c.2573T>G (p.Phe858Cys)
|
rs2109811560
|
|
NM_000222.3(KIT):c.2578T>C (p.Trp860Arg)
|
|
|
NM_000222.3(KIT):c.2581G>A (p.Glu861Lys)
|
rs1553893452
|
|
NM_000222.3(KIT):c.2583G>C (p.Glu861Asp)
|
rs1060504662
|
|
NM_000222.3(KIT):c.2584C>G (p.Leu862Val)
|
rs779706462
|
|
NM_000222.3(KIT):c.2585T>G (p.Leu862Arg)
|
rs1722934709
|
|
NM_000222.3(KIT):c.2591C>G (p.Ser864Cys)
|
rs2109811701
|
|
NM_000222.3(KIT):c.2596+6A>G
|
rs1168440042
|
|
NM_000222.3(KIT):c.2597-3C>T
|
rs1553893476
|
|
NM_000222.3(KIT):c.2597-3del
|
|
|
NM_000222.3(KIT):c.2597-6T>A
|
rs1367451109
|
|
NM_000222.3(KIT):c.2597-9G>A
|
rs2109812197
|
|
NM_000222.3(KIT):c.2597G>A (p.Gly866Glu)
|
|
|
NM_000222.3(KIT):c.2601C>A (p.Ser867Arg)
|
rs143074839
|
|
NM_000222.3(KIT):c.2602A>G (p.Ser868Gly)
|
rs2109812250
|
|
NM_000222.3(KIT):c.2604C>A (p.Ser868Arg)
|
rs2109812266
|
|
NM_000222.3(KIT):c.2605C>G (p.Pro869Ala)
|
rs2109812271
|
|
NM_000222.3(KIT):c.2611C>A (p.Pro871Thr)
|
rs1722941120
|
|
NM_000222.3(KIT):c.2611C>T (p.Pro871Ser)
|
rs1722941120
|
|
NM_000222.3(KIT):c.2614G>C (p.Gly872Arg)
|
rs1060502546
|
|
NM_000222.3(KIT):c.2628T>G (p.Asp876Glu)
|
rs778078182
|
|
NM_000222.3(KIT):c.262G>A (p.Glu88Lys)
|
|
|
NM_000222.3(KIT):c.2630C>A (p.Ser877Tyr)
|
rs1722943323
|
|
NM_000222.3(KIT):c.2630C>T (p.Ser877Phe)
|
rs1722943323
|
|
NM_000222.3(KIT):c.2635T>C (p.Phe879Leu)
|
|
|
NM_000222.3(KIT):c.263A>G (p.Glu88Gly)
|
|
|
NM_000222.3(KIT):c.2641A>G (p.Lys881Glu)
|
|
|
NM_000222.3(KIT):c.2644A>G (p.Met882Val)
|
rs1560424920
|
|
NM_000222.3(KIT):c.2644A>T (p.Met882Leu)
|
rs1560424920
|
|
NM_000222.3(KIT):c.2645T>C (p.Met882Thr)
|
|
|
NM_000222.3(KIT):c.2651A>G (p.Lys884Arg)
|
rs1722944030
|
|
NM_000222.3(KIT):c.2653G>A (p.Glu885Lys)
|
rs1553893498
|
|
NM_000222.3(KIT):c.2657G>C (p.Gly886Ala)
|
rs2109812511
|
|
NM_000222.3(KIT):c.265G>A (p.Ala89Thr)
|
rs2109662429
|
|
NM_000222.3(KIT):c.2663G>T (p.Arg888Leu)
|
rs776681643
|
|
NM_000222.3(KIT):c.2671A>G (p.Ser891Gly)
|
rs1201021287
|
|
NM_000222.3(KIT):c.2672G>T (p.Ser891Ile)
|
rs1560424985
|
|
NM_000222.3(KIT):c.2679A>T (p.Glu893Asp)
|
|
|
NM_000222.3(KIT):c.2680C>A (p.His894Asn)
|
|
|
NM_000222.3(KIT):c.2681A>G (p.His894Arg)
|
|
|
NM_000222.3(KIT):c.2683G>T (p.Ala895Ser)
|
rs774405431
|
|
NM_000222.3(KIT):c.2686C>G (p.Pro896Ala)
|
rs1037165835
|
|
NM_000222.3(KIT):c.2693A>C (p.Glu898Ala)
|
rs761840504
|
|
NM_000222.3(KIT):c.2695A>C (p.Met899Leu)
|
rs1722948692
|
|
NM_000222.3(KIT):c.2696+5G>A
|
rs1158754122
|
|
NM_000222.3(KIT):c.2696+5G>C
|
rs1158754122
|
|
NM_000222.3(KIT):c.2696+6A>C
|
rs2109812781
|
|
NM_000222.3(KIT):c.2696+6A>G
|
|
|
NM_000222.3(KIT):c.2696+6A>T
|
rs2109812781
|
|
NM_000222.3(KIT):c.2697-3C>T
|
rs1722967172
|
|
NM_000222.3(KIT):c.2697-7C>A
|
rs2109813756
|
|
NM_000222.3(KIT):c.2697G>A (p.Met899Ile)
|
rs769984428
|
|
NM_000222.3(KIT):c.2697G>T (p.Met899Ile)
|
rs769984428
|
|
NM_000222.3(KIT):c.2699A>G (p.Tyr900Cys)
|
rs1578008242
|
|
NM_000222.3(KIT):c.2699A>T (p.Tyr900Phe)
|
rs1578008242
|
|
NM_000222.3(KIT):c.269C>A (p.Thr90Asn)
|
rs1720018880
|
|
NM_000222.3(KIT):c.26A>G (p.Asp9Gly)
|
rs2109520961
|
|
NM_000222.3(KIT):c.2702A>G (p.Asp901Gly)
|
|
|
NM_000222.3(KIT):c.2707A>C (p.Met903Leu)
|
rs779966930
|
|
NM_000222.3(KIT):c.2707A>G (p.Met903Val)
|
|
|
NM_000222.3(KIT):c.2708T>C (p.Met903Thr)
|
rs1722968117
|
|
NM_000222.3(KIT):c.2709G>A (p.Met903Ile)
|
rs1722968263
|
|
NM_000222.3(KIT):c.2710A>C (p.Lys904Gln)
|
rs1722968421
|
|
NM_000222.3(KIT):c.2712G>T (p.Lys904Asn)
|
rs1553893567
|
|
NM_000222.3(KIT):c.2713A>G (p.Thr905Ala)
|
|
|
NM_000222.3(KIT):c.2725G>T (p.Ala909Ser)
|
|
|
NM_000222.3(KIT):c.2725_2726delinsTT (p.Ala909Leu)
|
rs1722969129
|
|
NM_000222.3(KIT):c.2729A>T (p.Asp910Val)
|
|
|
NM_000222.3(KIT):c.272A>G (p.Asn91Ser)
|
|
|
NM_000222.3(KIT):c.2731C>T (p.Pro911Ser)
|
rs1553893575
|
|
NM_000222.3(KIT):c.2732C>A (p.Pro911His)
|
rs772159767
|
|
NM_000222.3(KIT):c.2732C>T (p.Pro911Leu)
|
|
|
NM_000222.3(KIT):c.2734C>G (p.Leu912Val)
|
rs1199268527
|
|
NM_000222.3(KIT):c.2747C>T (p.Thr916Ile)
|
rs2109813935
|
|
NM_000222.3(KIT):c.274A>G (p.Thr92Ala)
|
rs1560393612
|
|
NM_000222.3(KIT):c.274A>T (p.Thr92Ser)
|
rs1560393612
|
|
NM_000222.3(KIT):c.2750T>G (p.Phe917Cys)
|
rs2109813949
|
|
NM_000222.3(KIT):c.2755C>G (p.Gln919Glu)
|
|
|
NM_000222.3(KIT):c.2758A>G (p.Ile920Val)
|
rs1060502562
|
|
NM_000222.3(KIT):c.275C>G (p.Thr92Ser)
|
rs1720019762
|
|
NM_000222.3(KIT):c.2761G>A (p.Val921Ile)
|
rs1553893587
|
|
NM_000222.3(KIT):c.2764C>A (p.Gln922Lys)
|
|
|
NM_000222.3(KIT):c.2765A>G (p.Gln922Arg)
|
rs1560425417
|
|
NM_000222.3(KIT):c.2768T>A (p.Leu923Gln)
|
rs1722972268
|
|
NM_000222.3(KIT):c.2772T>G (p.Ile924Met)
|
rs1722972540
|
|
NM_000222.3(KIT):c.2772dup (p.Glu925Ter)
|
rs2109814065
|
|
NM_000222.3(KIT):c.2773G>A (p.Glu925Lys)
|
|
|
NM_000222.3(KIT):c.2773G>C (p.Glu925Gln)
|
rs1722972689
|
|
NM_000222.3(KIT):c.2774A>G (p.Glu925Gly)
|
rs1578008376
|
|
NM_000222.3(KIT):c.2776A>C (p.Lys926Gln)
|
rs1722972972
|
|
NM_000222.3(KIT):c.2779C>A (p.Gln927Lys)
|
rs1722973274
|
|
NM_000222.3(KIT):c.277G>A (p.Gly93Ser)
|
rs1720020252
|
|
NM_000222.3(KIT):c.2780A>G (p.Gln927Arg)
|
rs2109814123
|
|
NM_000222.3(KIT):c.2782A>G (p.Ile928Val)
|
|
|
NM_000222.3(KIT):c.2783T>C (p.Ile928Thr)
|
rs2109814150
|
|
NM_000222.3(KIT):c.2786C>G (p.Ser929Ter)
|
|
|
NM_000222.3(KIT):c.2788G>A (p.Glu930Lys)
|
rs2109814171
|
|
NM_000222.3(KIT):c.2790G>C (p.Glu930Asp)
|
rs759076549
|
|
NM_000222.3(KIT):c.2791del (p.Ser931fs)
|
rs1722974200
|
|
NM_000222.3(KIT):c.2793C>G (p.Ser931Arg)
|
|
|
NM_000222.3(KIT):c.2795C>A (p.Thr932Asn)
|
rs1553893597
|
|
NM_000222.3(KIT):c.2795C>G (p.Thr932Ser)
|
rs1553893597
|
|
NM_000222.3(KIT):c.2795C>T (p.Thr932Ile)
|
rs1553893597
|
|
NM_000222.3(KIT):c.2797A>C (p.Asn933His)
|
|
|
NM_000222.3(KIT):c.2797A>T (p.Asn933Tyr)
|
|
|
NM_000222.3(KIT):c.2798A>C (p.Asn933Thr)
|
rs752222954
|
|
NM_000222.3(KIT):c.2798A>G (p.Asn933Ser)
|
rs752222954
|
|
NM_000222.3(KIT):c.2801A>T (p.His934Leu)
|
rs762406098
|
|
NM_000222.3(KIT):c.2802+1G>A
|
|
|
NM_000222.3(KIT):c.2802+3G>A
|
rs1560425519
|
|
NM_000222.3(KIT):c.2802+4A>G
|
|
|
NM_000222.3(KIT):c.2802+5G>A
|
rs1722975877
|
|
NM_000222.3(KIT):c.2802T>G (p.His934Gln)
|
rs764592751
|
|
NM_000222.3(KIT):c.2803-1G>T
|
rs1723049645
|
|
NM_000222.3(KIT):c.2803-2A>C
|
|
|
NM_000222.3(KIT):c.2803A>G (p.Ile935Val)
|
|
|
NM_000222.3(KIT):c.2804T>A (p.Ile935Asn)
|
|
|
NM_000222.3(KIT):c.2805_2806delinsAC (p.Tyr936His)
|
rs2109818111
|
|
NM_000222.3(KIT):c.2807A>G (p.Tyr936Cys)
|
rs1723050446
|
|
NM_000222.3(KIT):c.2809T>G (p.Ser937Ala)
|
rs1560426319
|
|
NM_000222.3(KIT):c.2812A>C (p.Asn938His)
|
rs1339197346
|
|
NM_000222.3(KIT):c.2813A>G (p.Asn938Ser)
|
rs1379323416
|
|
NM_000222.3(KIT):c.2813A>T (p.Asn938Ile)
|
|
|
NM_000222.3(KIT):c.2818G>C (p.Ala940Pro)
|
rs1723051919
|
|
NM_000222.3(KIT):c.2818G>T (p.Ala940Ser)
|
rs1723051919
|
|
NM_000222.3(KIT):c.2819C>G (p.Ala940Gly)
|
rs1723052055
|
|
NM_000222.3(KIT):c.2824T>C (p.Cys942Arg)
|
|
|
NM_000222.3(KIT):c.2827A>C (p.Ser943Arg)
|
rs756463331
|
|
NM_000222.3(KIT):c.2830C>T (p.Pro944Ser)
|
|
|
NM_000222.3(KIT):c.2834del (p.Asn945fs)
|
rs1553893797
|
|
NM_000222.3(KIT):c.2837G>C (p.Arg946Pro)
|
rs779103998
|
|
NM_000222.3(KIT):c.2837G>T (p.Arg946Leu)
|
|
|
NM_000222.3(KIT):c.2839C>T (p.Gln947Ter)
|
rs1060502558
|
|
NM_000222.3(KIT):c.2840A>C (p.Gln947Pro)
|
|
|
NM_000222.3(KIT):c.2840del (p.Gln947fs)
|
|
|
NM_000222.3(KIT):c.2841_2842del (p.Lys948fs)
|
|
|
NM_000222.3(KIT):c.2845C>A (p.Pro949Thr)
|
|
|
NM_000222.3(KIT):c.2846C>A (p.Pro949His)
|
rs2109818619
|
|
NM_000222.3(KIT):c.2846C>T (p.Pro949Leu)
|
rs2109818619
|
|
NM_000222.3(KIT):c.2848G>C (p.Val950Leu)
|
|
|
NM_000222.3(KIT):c.2854G>A (p.Asp952Asn)
|
rs1578009883
|
|
NM_000222.3(KIT):c.2855A>G (p.Asp952Gly)
|
|
|
NM_000222.3(KIT):c.2863G>A (p.Val955Met)
|
rs1060502568
|
|
NM_000222.3(KIT):c.2871C>G (p.Ile957Met)
|
rs1578009941
|
|
NM_000222.3(KIT):c.287C>A (p.Thr96Lys)
|
rs1060502564
|
|
NM_000222.3(KIT):c.2881G>C (p.Gly961Arg)
|
rs773828910
|
|
NM_000222.3(KIT):c.2881G>T (p.Gly961Cys)
|
rs773828910
|
|
NM_000222.3(KIT):c.2885G>A (p.Ser962Asn)
|
|
|
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)
|
rs773709702
|
|
NM_000222.3(KIT):c.2890G>T (p.Ala964Ser)
|
rs766845123
|
|
NM_000222.3(KIT):c.2894C>G (p.Ser965Cys)
|
|
|
NM_000222.3(KIT):c.2896T>G (p.Ser966Ala)
|
|
|
NM_000222.3(KIT):c.2897C>T (p.Ser966Phe)
|
rs765503364
|
|
NM_000222.3(KIT):c.2900C>T (p.Ser967Phe)
|
|
|
NM_000222.3(KIT):c.2904G>T (p.Gln968His)
|
rs1578010083
|
|
NM_000222.3(KIT):c.2905C>G (p.Pro969Ala)
|
|
|
NM_000222.3(KIT):c.2905C>T (p.Pro969Ser)
|
rs1723061048
|
|
NM_000222.3(KIT):c.2906C>T (p.Pro969Leu)
|
rs1560426544
|
|
NM_000222.3(KIT):c.2909T>C (p.Leu970Pro)
|
rs1723061561
|
|
NM_000222.3(KIT):c.2910_2911delinsAA (p.Leu971Ile)
|
|
|
NM_000222.3(KIT):c.2911C>T (p.Leu971Phe)
|
rs745807112
|
|
NM_000222.3(KIT):c.2912T>A (p.Leu971His)
|
rs929287265
|
|
NM_000222.3(KIT):c.2912T>C (p.Leu971Pro)
|
rs929287265
|
|
NM_000222.3(KIT):c.2914G>A (p.Val972Met)
|
|
|
NM_000222.3(KIT):c.2915T>C (p.Val972Ala)
|
rs1268834189
|
|
NM_000222.3(KIT):c.2919CGA[1] (p.Asp975del)
|
|
|
NM_000222.3(KIT):c.2921A>G (p.Asp974Gly)
|
|
|
NM_000222.3(KIT):c.2922C>G (p.Asp974Glu)
|
|
|
NM_000222.3(KIT):c.2923G>C (p.Asp975His)
|
rs373152714
|
|
NM_000222.3(KIT):c.2924A>G (p.Asp975Gly)
|
rs768320570
|
|
NM_000222.3(KIT):c.2930G>C (p.Ter977Ser)
|
rs2109819694
|
|
NM_000222.3(KIT):c.293C>T (p.Thr98Ile)
|
rs1577953102
|
|
NM_000222.3(KIT):c.296A>G (p.Asn99Ser)
|
|
|
NM_000222.3(KIT):c.29T>C (p.Phe10Ser)
|
rs1716941044
|
|
NM_000222.3(KIT):c.302A>G (p.His101Arg)
|
rs1274601103
|
|
NM_000222.3(KIT):c.303C>G (p.His101Gln)
|
rs145333060
|
|
NM_000222.3(KIT):c.310A>G (p.Ser104Gly)
|
rs1060502559
|
|
NM_000222.3(KIT):c.314A>G (p.Asn105Ser)
|
|
|
NM_000222.3(KIT):c.316T>G (p.Ser106Ala)
|
rs1720024166
|
|
NM_000222.3(KIT):c.319A>G (p.Ile107Val)
|
rs749024557
|
|
NM_000222.3(KIT):c.31C>T (p.Leu11Phe)
|
rs934366239
|
|
NM_000222.3(KIT):c.325G>A (p.Val109Met)
|
rs1720025321
|
|
NM_000222.3(KIT):c.325G>T (p.Val109Leu)
|
|
|
NM_000222.3(KIT):c.335G>C (p.Arg112Thr)
|
|
|
NM_000222.3(KIT):c.338-11T>C
|
|
|
NM_000222.3(KIT):c.338-16G>A
|
rs2109671475
|
|
NM_000222.3(KIT):c.338-3T>C
|
rs1577956540
|
|
NM_000222.3(KIT):c.338-6C>G
|
rs2109671574
|
|
NM_000222.3(KIT):c.338-6dup
|
rs2109671589
|
|
NM_000222.3(KIT):c.338-8T>A
|
rs1720215706
|
|
NM_000222.3(KIT):c.340C>A (p.Pro114Thr)
|
rs772836939
|
|
NM_000222.3(KIT):c.340C>G (p.Pro114Ala)
|
rs772836939
|
|
NM_000222.3(KIT):c.343G>A (p.Ala115Thr)
|
rs1560395513
|
|
NM_000222.3(KIT):c.344C>T (p.Ala115Val)
|
rs1577956572
|
|
NM_000222.3(KIT):c.348G>T (p.Lys116Asn)
|
rs2109671777
|
|
NM_000222.3(KIT):c.34T>C (p.Cys12Arg)
|
|
|
NM_000222.3(KIT):c.355C>G (p.Leu119Val)
|
rs1553887690
|
|
NM_000222.3(KIT):c.359T>C (p.Val120Ala)
|
|
|
NM_000222.3(KIT):c.35G>C (p.Cys12Ser)
|
rs1716941861
|
|
NM_000222.3(KIT):c.361G>C (p.Asp121His)
|
|
|
NM_000222.3(KIT):c.362A>T (p.Asp121Val)
|
rs2109671872
|
|
NM_000222.3(KIT):c.364C>T (p.Arg122Cys)
|
|
|
NM_000222.3(KIT):c.365G>A (p.Arg122His)
|
rs1720218851
|
|
NM_000222.3(KIT):c.368C>T (p.Ser123Phe)
|
rs371303702
|
|
NM_000222.3(KIT):c.37G>A (p.Val13Ile)
|
rs753316557
|
|
NM_000222.3(KIT):c.385G>C (p.Asp129His)
|
rs1720220156
|
|
NM_000222.3(KIT):c.386A>G (p.Asp129Gly)
|
rs948408318
|
|
NM_000222.3(KIT):c.387C>G (p.Asp129Glu)
|
rs763100661
|
|
NM_000222.3(KIT):c.390C>G (p.Asn130Lys)
|
rs575926270
|
|
NM_000222.3(KIT):c.394A>G (p.Thr132Ala)
|
rs756128407
|
|
NM_000222.3(KIT):c.397C>G (p.Leu133Val)
|
rs1060502542
|
|
NM_000222.3(KIT):c.404G>A (p.Arg135His)
|
rs1174814949
|
|
NM_000222.3(KIT):c.404G>T (p.Arg135Leu)
|
|
|
NM_000222.3(KIT):c.406T>C (p.Cys136Arg)
|
rs1720223149
|
|
NM_000222.3(KIT):c.415A>G (p.Thr139Ala)
|
|
|
NM_000222.3(KIT):c.418G>A (p.Asp140Asn)
|
|
|
NM_000222.3(KIT):c.418G>T (p.Asp140Tyr)
|
|
|
NM_000222.3(KIT):c.424G>C (p.Glu142Gln)
|
rs2109672623
|
|
NM_000222.3(KIT):c.425A>C (p.Glu142Ala)
|
rs1553887714
|
|
NM_000222.3(KIT):c.430A>G (p.Thr144Ala)
|
rs758120380
|
|
NM_000222.3(KIT):c.430A>T (p.Thr144Ser)
|
rs758120380
|
|
NM_000222.3(KIT):c.431C>T (p.Thr144Ile)
|
rs2109672716
|
|
NM_000222.3(KIT):c.434A>C (p.Asn145Thr)
|
rs1003144287
|
|
NM_000222.3(KIT):c.434A>G (p.Asn145Ser)
|
rs1003144287
|
|
NM_000222.3(KIT):c.437A>T (p.Tyr146Phe)
|
|
|
NM_000222.3(KIT):c.43C>T (p.Leu15Phe)
|
|
|
NM_000222.3(KIT):c.443T>C (p.Leu148Pro)
|
rs1720225274
|
|
NM_000222.3(KIT):c.446A>G (p.Lys149Arg)
|
rs1237279460
|
|
NM_000222.3(KIT):c.448G>A (p.Gly150Arg)
|
|
|
NM_000222.3(KIT):c.44T>C (p.Leu15Pro)
|
rs1230808481
|
|
NM_000222.3(KIT):c.455A>G (p.Gln152Arg)
|
rs1720226498
|
|
NM_000222.3(KIT):c.456G>C (p.Gln152His)
|
|
|
NM_000222.3(KIT):c.458G>A (p.Gly153Glu)
|
rs1720226841
|
|
NM_000222.3(KIT):c.466C>A (p.Leu156Ile)
|
rs878853767
|
|
NM_000222.3(KIT):c.466C>T (p.Leu156Phe)
|
rs878853767
|
|
NM_000222.3(KIT):c.469C>G (p.Pro157Ala)
|
rs1276125047
|
|
NM_000222.3(KIT):c.469C>T (p.Pro157Ser)
|
|
|
NM_000222.3(KIT):c.472A>G (p.Lys158Glu)
|
rs770362669
|
|
NM_000222.3(KIT):c.473A>C (p.Lys158Thr)
|
|
|
NM_000222.3(KIT):c.473A>G (p.Lys158Arg)
|
rs775817289
|
|
NM_000222.3(KIT):c.475G>C (p.Asp159His)
|
rs1720228389
|
|
NM_000222.3(KIT):c.478T>A (p.Leu160Met)
|
rs763226471
|
|
NM_000222.3(KIT):c.480G>C (p.Leu160Phe)
|
rs1201516128
|
|
NM_000222.3(KIT):c.481A>G (p.Arg161Gly)
|
|
|
NM_000222.3(KIT):c.482G>A (p.Arg161Lys)
|
rs764280416
|
|
NM_000222.3(KIT):c.483G>T (p.Arg161Ser)
|
|
|
NM_000222.3(KIT):c.484T>C (p.Phe162Leu)
|
rs201222895
|
|
NM_000222.3(KIT):c.484T>G (p.Phe162Val)
|
rs201222895
|
|
NM_000222.3(KIT):c.488T>G (p.Ile163Ser)
|
rs2109673327
|
|
NM_000222.3(KIT):c.491C>A (p.Pro164His)
|
rs1720230009
|
|
NM_000222.3(KIT):c.493G>C (p.Asp165His)
|
rs1280787320
|
|
NM_000222.3(KIT):c.497C>T (p.Pro166Leu)
|
rs1720230405
|
|
NM_000222.3(KIT):c.49C>G (p.Leu17Val)
|
rs2109521210
|
|
NM_000222.3(KIT):c.500A>G (p.Lys167Arg)
|
rs1720230800
|
|
NM_000222.3(KIT):c.502G>A (p.Ala168Thr)
|
rs200851152
|
|
NM_000222.3(KIT):c.503C>A (p.Ala168Glu)
|
rs149092990
|
|
NM_000222.3(KIT):c.503C>G (p.Ala168Gly)
|
|
|
NM_000222.3(KIT):c.50T>C (p.Leu17Pro)
|
rs748615975
|
|
NM_000222.3(KIT):c.511A>G (p.Met171Val)
|
|
|
NM_000222.3(KIT):c.512T>C (p.Met171Thr)
|
rs752511532
|
|
NM_000222.3(KIT):c.516C>G (p.Ile172Met)
|
|
|
NM_000222.3(KIT):c.517A>C (p.Lys173Gln)
|
rs1720232627
|
|
NM_000222.3(KIT):c.521G>C (p.Ser174Thr)
|
rs758171174
|
|
NM_000222.3(KIT):c.523G>A (p.Val175Met)
|
rs2109673862
|
|
NM_000222.3(KIT):c.527A>G (p.Lys176Arg)
|
rs2109673896
|
|
NM_000222.3(KIT):c.529C>T (p.Arg177Cys)
|
|
|
NM_000222.3(KIT):c.52C>G (p.Leu18Val)
|
rs370787811
|
|
NM_000222.3(KIT):c.532G>T (p.Ala178Ser)
|
rs115585711
|
|
NM_000222.3(KIT):c.533C>T (p.Ala178Val)
|
rs2109674011
|
|
NM_000222.3(KIT):c.53T>G (p.Leu18Arg)
|
|
|
NM_000222.3(KIT):c.541C>T (p.Arg181Trp)
|
|
|
NM_000222.3(KIT):c.542G>A (p.Arg181Gln)
|
rs1720234301
|
|
NM_000222.3(KIT):c.544C>G (p.Leu182Val)
|
rs1720234665
|
|
NM_000222.3(KIT):c.550C>A (p.Leu184Met)
|
rs1577957143
|
|
NM_000222.3(KIT):c.554A>G (p.His185Arg)
|
rs1720235349
|
|
NM_000222.3(KIT):c.559T>G (p.Ser187Ala)
|
|
|
NM_000222.3(KIT):c.55C>A (p.Arg19Ser)
|
rs1490714621
|
|
NM_000222.3(KIT):c.563T>C (p.Val188Ala)
|
rs1553887765
|
|
NM_000222.3(KIT):c.567C>A (p.Asp189Glu)
|
rs1720236336
|
|
NM_000222.3(KIT):c.569A>G (p.Gln190Arg)
|
rs1060502547
|
|
NM_000222.3(KIT):c.569A>T (p.Gln190Leu)
|
rs1060502547
|
|
NM_000222.3(KIT):c.56G>A (p.Arg19His)
|
rs747253141
|
|
NM_000222.3(KIT):c.56_57delinsAA (p.Arg19Gln)
|
|
|
NM_000222.3(KIT):c.56_57delinsTT (p.Arg19Leu)
|
rs1577898667
|
|
NM_000222.3(KIT):c.571G>C (p.Glu191Gln)
|
rs1489233873
|
|
NM_000222.3(KIT):c.572A>G (p.Glu191Gly)
|
|
|
NM_000222.3(KIT):c.572A>T (p.Glu191Val)
|
|
|
NM_000222.3(KIT):c.575G>A (p.Gly192Asp)
|
rs1268420042
|
|
NM_000222.3(KIT):c.583G>C (p.Val195Leu)
|
rs2109674553
|
|
NM_000222.3(KIT):c.586C>A (p.Leu196Met)
|
|
|
NM_000222.3(KIT):c.586C>G (p.Leu196Val)
|
rs768971014
|
|
NM_000222.3(KIT):c.587T>G (p.Leu196Arg)
|
|
|
NM_000222.3(KIT):c.58G>A (p.Val20Ile)
|
rs1553881787
|
|
NM_000222.3(KIT):c.58G>T (p.Val20Phe)
|
rs1553881787
|
|
NM_000222.3(KIT):c.595A>G (p.Lys199Glu)
|
|
|
NM_000222.3(KIT):c.598T>C (p.Phe200Leu)
|
rs2109674645
|
|
NM_000222.3(KIT):c.602T>A (p.Ile201Asn)
|
rs1720239362
|
|
NM_000222.3(KIT):c.615G>A (p.Arg205=)
|
rs1720239935
|
|
NM_000222.3(KIT):c.619+11_619+12delinsGC
|
|
|
NM_000222.3(KIT):c.619+4C>A
|
rs1720240123
|
|
NM_000222.3(KIT):c.619+5T>C
|
rs1060502565
|
|
NM_000222.3(KIT):c.619+5T>G
|
|
|
NM_000222.3(KIT):c.619+6G>A
|
|
|
NM_000222.3(KIT):c.61C>A (p.Gln21Lys)
|
|
|
NM_000222.3(KIT):c.620-12_620-8del
|
|
|
NM_000222.3(KIT):c.624C>G (p.Phe208Leu)
|
|
|
NM_000222.3(KIT):c.629C>T (p.Ala210Val)
|
rs1456585233
|
|
NM_000222.3(KIT):c.62A>G (p.Gln21Arg)
|
rs931395990
|
|
NM_000222.3(KIT):c.631G>A (p.Val211Met)
|
rs1290764669
|
|
NM_000222.3(KIT):c.632T>C (p.Val211Ala)
|
|
|
NM_000222.3(KIT):c.638T>C (p.Val213Ala)
|
rs878853769
|
|
NM_000222.3(KIT):c.640G>T (p.Val214Leu)
|
|
|
NM_000222.3(KIT):c.641T>C (p.Val214Ala)
|
rs1720323264
|
|
NM_000222.3(KIT):c.644C>T (p.Ser215Phe)
|
|
|
NM_000222.3(KIT):c.646G>A (p.Val216Met)
|
|
|
NM_000222.3(KIT):c.647T>C (p.Val216Ala)
|
|
|
NM_000222.3(KIT):c.650C>T (p.Ser217Phe)
|
rs1163691210
|
|
NM_000222.3(KIT):c.652A>G (p.Lys218Glu)
|
rs2109679032
|
|
NM_000222.3(KIT):c.653A>G (p.Lys218Arg)
|
|
|
NM_000222.3(KIT):c.655G>A (p.Ala219Thr)
|
rs141679490
|
|
NM_000222.3(KIT):c.656C>T (p.Ala219Val)
|
|
|
NM_000222.3(KIT):c.658A>G (p.Ser220Gly)
|
rs1060502549
|
|
NM_000222.3(KIT):c.658A>T (p.Ser220Cys)
|
rs1060502549
|
|
NM_000222.3(KIT):c.659G>C (p.Ser220Thr)
|
rs1720325262
|
|
NM_000222.3(KIT):c.661T>G (p.Tyr221Asp)
|
|
|
NM_000222.3(KIT):c.662A>G (p.Tyr221Cys)
|
rs763853854
|
|
NM_000222.3(KIT):c.667C>T (p.Leu223Phe)
|
|
|
NM_000222.3(KIT):c.668T>G (p.Leu223Arg)
|
|
|
NM_000222.3(KIT):c.67+19C>T
|
rs2109521760
|
|
NM_000222.3(KIT):c.67+3G>A
|
rs1560366820
|
|
NM_000222.3(KIT):c.67+5G>T
|
rs1553881794
|
|
NM_000222.3(KIT):c.67+6A>G
|
|
|
NM_000222.3(KIT):c.670A>G (p.Arg224Gly)
|
|
|
NM_000222.3(KIT):c.673G>A (p.Glu225Lys)
|
rs1330251750
|
|
NM_000222.3(KIT):c.677G>A (p.Gly226Glu)
|
rs1577958652
|
|
NM_000222.3(KIT):c.68-3C>T
|
rs2109660261
|
|
NM_000222.3(KIT):c.68-5G>A
|
|
|
NM_000222.3(KIT):c.685T>C (p.Phe229Leu)
|
rs1560396887
|
|
NM_000222.3(KIT):c.68G>A (p.Gly23Asp)
|
|
|
NM_000222.3(KIT):c.691G>A (p.Val231Met)
|
rs1720329025
|
|
NM_000222.3(KIT):c.695C>T (p.Thr232Met)
|
rs767174569
|
|
NM_000222.3(KIT):c.700A>G (p.Thr234Ala)
|
rs1577958731
|
|
NM_000222.3(KIT):c.703A>G (p.Ile235Val)
|
|
|
NM_000222.3(KIT):c.70T>C (p.Ser24Pro)
|
rs1719995693
|
|
NM_000222.3(KIT):c.712G>T (p.Val238Leu)
|
|
|
NM_000222.3(KIT):c.71C>G (p.Ser24Cys)
|
rs1577952322
|
|
NM_000222.3(KIT):c.724G>A (p.Val242Met)
|
rs1553887944
|
|
NM_000222.3(KIT):c.728A>G (p.Tyr243Cys)
|
rs1577958787
|
|
NM_000222.3(KIT):c.728A>T (p.Tyr243Phe)
|
rs1577958787
|
|
NM_000222.3(KIT):c.73T>G (p.Ser25Ala)
|
|
|
NM_000222.3(KIT):c.741_742delinsTG (p.Lys247_Arg248delinsAsnGly)
|
|
|
NM_000222.3(KIT):c.748A>G (p.Asn250Asp)
|
rs1553887953
|
|
NM_000222.3(KIT):c.751A>G (p.Ser251Gly)
|
rs2109679563
|
|
NM_000222.3(KIT):c.756+3G>A
|
rs534201005
|
|
NM_000222.3(KIT):c.756+3G>C
|
rs534201005
|
|
NM_000222.3(KIT):c.756G>A (p.Gln252=)
|
rs2109679584
|
|
NM_000222.3(KIT):c.757-6C>G
|
|
|
NM_000222.3(KIT):c.757A>G (p.Thr253Ala)
|
rs765944197
|
|
NM_000222.3(KIT):c.760A>G (p.Lys254Glu)
|
rs2109692895
|
|
NM_000222.3(KIT):c.764T>C (p.Leu255Pro)
|
rs2109692929
|
|
NM_000222.3(KIT):c.767A>C (p.Gln256Pro)
|
rs1720599914
|
|
NM_000222.3(KIT):c.767A>G (p.Gln256Arg)
|
|
|
NM_000222.3(KIT):c.772A>C (p.Lys258Gln)
|
rs2109692964
|
|
NM_000222.3(KIT):c.772A>G (p.Lys258Glu)
|
|
|
NM_000222.3(KIT):c.773A>C (p.Lys258Thr)
|
rs1577963039
|
|
NM_000222.3(KIT):c.774A>C (p.Lys258Asn)
|
rs755490030
|
|
NM_000222.3(KIT):c.776A>G (p.Tyr259Cys)
|
rs200422460
|
|
NM_000222.3(KIT):c.77A>G (p.Gln26Arg)
|
rs1560393066
|
|
NM_000222.3(KIT):c.78A>C (p.Gln26His)
|
rs764782713
|
|
NM_000222.3(KIT):c.791A>G (p.His264Arg)
|
|
|
NM_000222.3(KIT):c.792C>A (p.His264Gln)
|
rs753102574
|
|
NM_000222.3(KIT):c.794G>T (p.Gly265Val)
|
|
|
NM_000222.3(KIT):c.796G>C (p.Asp266His)
|
|
|
NM_000222.3(KIT):c.796G>T (p.Asp266Tyr)
|
rs1720603341
|
|
NM_000222.3(KIT):c.79C>T (p.Pro27Ser)
|
rs1553887242
|
|
NM_000222.3(KIT):c.7G>C (p.Gly3Arg)
|
rs1577898451
|
|
NM_000222.3(KIT):c.802A>C (p.Asn268His)
|
|
|
NM_000222.3(KIT):c.804T>G (p.Asn268Lys)
|
|
|
NM_000222.3(KIT):c.809A>G (p.Glu270Gly)
|
rs2109693173
|
|
NM_000222.3(KIT):c.80C>T (p.Pro27Leu)
|
rs1307431391
|
|
NM_000222.3(KIT):c.811C>T (p.Arg271Cys)
|
rs1720604274
|
|
NM_000222.3(KIT):c.812G>A (p.Arg271His)
|
rs2109693198
|
|
NM_000222.3(KIT):c.814C>A (p.Gln272Lys)
|
|
|
NM_000222.3(KIT):c.817G>A (p.Ala273Thr)
|
rs769498440
|
|
NM_000222.3(KIT):c.821C>A (p.Thr274Lys)
|
|
|
NM_000222.3(KIT):c.826A>T (p.Thr276Ser)
|
|
|
NM_000222.3(KIT):c.829A>C (p.Ile277Leu)
|
rs757547974
|
|
NM_000222.3(KIT):c.82T>C (p.Ser28Pro)
|
rs1330171716
|
|
NM_000222.3(KIT):c.82T>G (p.Ser28Ala)
|
|
|
NM_000222.3(KIT):c.833G>T (p.Ser278Ile)
|
rs1325793057
|
|
NM_000222.3(KIT):c.841A>G (p.Arg281Gly)
|
|
|
NM_000222.3(KIT):c.842G>C (p.Arg281Thr)
|
|
|
NM_000222.3(KIT):c.859G>A (p.Val287Met)
|
|
|
NM_000222.3(KIT):c.859G>C (p.Val287Leu)
|
|
|
NM_000222.3(KIT):c.859G>T (p.Val287Leu)
|
rs1720608499
|
|
NM_000222.3(KIT):c.85G>C (p.Val29Leu)
|
|
|
NM_000222.3(KIT):c.860T>C (p.Val287Ala)
|
rs775105481
|
|
NM_000222.3(KIT):c.865A>G (p.Met289Val)
|
rs1577963205
|
|
NM_000222.3(KIT):c.866T>C (p.Met289Thr)
|
rs1363221725
|
|
NM_000222.3(KIT):c.867G>A (p.Met289Ile)
|
rs1297145844
|
|
NM_000222.3(KIT):c.867G>C (p.Met289Ile)
|
rs1297145844
|
|
NM_000222.3(KIT):c.86T>C (p.Val29Ala)
|
rs864622699
|
|
NM_000222.3(KIT):c.872A>G (p.Tyr291Cys)
|
rs1720610130
|
|
NM_000222.3(KIT):c.874G>A (p.Ala292Thr)
|
rs2109693537
|
|
NM_000222.3(KIT):c.875C>T (p.Ala292Val)
|
|
|
NM_000222.3(KIT):c.881A>G (p.Asn294Ser)
|
rs1019104358
|
|
NM_000222.3(KIT):c.888T>A (p.Phe296Leu)
|
rs1553888402
|
|
NM_000222.3(KIT):c.895G>A (p.Ala299Thr)
|
|
|
NM_000222.3(KIT):c.898A>G (p.Asn300Asp)
|
|
|
NM_000222.3(KIT):c.899A>G (p.Asn300Ser)
|
rs878853770
|
|
NM_000222.3(KIT):c.89G>T (p.Ser30Ile)
|
rs926559231
|
|
NM_000222.3(KIT):c.8G>A (p.Gly3Asp)
|
rs1560366535
|
|
NM_000222.3(KIT):c.901G>A (p.Val301Ile)
|
rs1720613744
|
|
NM_000222.3(KIT):c.902T>C (p.Val301Ala)
|
rs759119367
|
|
NM_000222.3(KIT):c.902T>G (p.Val301Gly)
|
rs759119367
|
|
NM_000222.3(KIT):c.904A>C (p.Thr302Pro)
|
rs2109693719
|
|
NM_000222.3(KIT):c.90T>A (p.Ser30Arg)
|
rs2109660456
|
|
NM_000222.3(KIT):c.913T>G (p.Leu305Val)
|
rs1720615266
|
|
NM_000222.3(KIT):c.91C>A (p.Pro31Thr)
|
rs1431394530
|
|
NM_000222.3(KIT):c.91C>G (p.Pro31Ala)
|
rs1431394530
|
|
NM_000222.3(KIT):c.924A>G (p.Val308=)
|
rs1164605560
|
|
NM_000222.3(KIT):c.925+3A>G
|
rs1060502561
|
|
NM_000222.3(KIT):c.925+4A>C
|
|
|
NM_000222.3(KIT):c.925+5A>C
|
|
|
NM_000222.3(KIT):c.925+5A>G
|
|
|
NM_000222.3(KIT):c.925+6T>C
|
rs1720616932
|
|
NM_000222.3(KIT):c.925+7del
|
|
|
NM_000222.3(KIT):c.926-8C>G
|
rs2109704853
|
|
NM_000222.3(KIT):c.927T>A (p.Asp309Glu)
|
rs2109704896
|
|
NM_000222.3(KIT):c.943A>G (p.Ile315Val)
|
rs2109704946
|
|
NM_000222.3(KIT):c.944T>C (p.Ile315Thr)
|
|
|
NM_000222.3(KIT):c.947T>C (p.Phe316Ser)
|
rs2109704968
|
|
NM_000222.3(KIT):c.950C>G (p.Pro317Arg)
|
rs2109705013
|
|
NM_000222.3(KIT):c.952A>C (p.Met318Leu)
|
rs143388949
|
|
NM_000222.3(KIT):c.954G>C (p.Met318Ile)
|
rs769399180
|
|
NM_000222.3(KIT):c.955A>G (p.Ile319Val)
|
rs2109705059
|
|
NM_000222.3(KIT):c.959A>G (p.Asn320Ser)
|
|
|
NM_000222.3(KIT):c.961A>G (p.Thr321Ala)
|
rs2109705084
|
|
NM_000222.3(KIT):c.962C>A (p.Thr321Asn)
|
|
|
NM_000222.3(KIT):c.962C>G (p.Thr321Ser)
|
rs1720838867
|
|
NM_000222.3(KIT):c.965C>A (p.Thr322Lys)
|
|
|
NM_000222.3(KIT):c.965C>T (p.Thr322Ile)
|
|
|
NM_000222.3(KIT):c.976A>G (p.Asn326Asp)
|
rs1720840263
|
|
NM_000222.3(KIT):c.977A>G (p.Asn326Ser)
|
rs2109705178
|
|
NM_000222.3(KIT):c.978C>G (p.Asn326Lys)
|
rs148594615
|
|
NM_000222.3(KIT):c.979G>A (p.Asp327Asn)
|
rs752061752
|
|
NM_000222.3(KIT):c.97G>A (p.Glu33Lys)
|
rs1553887257
|
|
NM_000222.3(KIT):c.992T>C (p.Val331Ala)
|
|
|
NM_000222.3(KIT):c.995A>G (p.Asp332Gly)
|
rs2109705268
|
|
NM_000222.3(KIT):c.996T>A (p.Asp332Glu)
|
rs1720841191
|
|
NM_000224.3(KRT18):c.541G>A (p.Asp181Asn)
|
rs1942470902
|
|
NM_000224.3(KRT18):c.599A>G (p.Glu200Gly)
|
|
|
NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)
|
|
|
NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)
|
|
|
NM_000236.3(LIPC):c.274-5C>T
|
|
|
NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)
|
|
|
NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)
|
|
|
NM_000236.3(LIPC):c.88+8C>A
|
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.3(MLH1):c.-117G>T
|
rs565891017
|
|
NM_000249.3(MLH1):c.-62T>C
|
|
|
NM_000249.3(MLH1):c.-63G>A
|
|
|
NM_000249.3(MLH1):c.-86G>A
|
rs558051715
|
|
NM_000249.3(MLH1):c.1668-?_2103+?dup
|
|
|
NM_000249.3(MLH1):c.1732-?_*193dup733
|
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.4(MLH1):c.-167del
|
|
|
NM_000249.4(MLH1):c.-27C>G
|
|
|
NM_000249.4(MLH1):c.-27C>T
|
rs587779001
|
|
NM_000249.4(MLH1):c.-28A>T
|
rs56198082
|
|
NM_000249.4(MLH1):c.1001T>G (p.Leu334Arg)
|
|
|
NM_000249.4(MLH1):c.1007G>C (p.Gly336Ala)
|
rs587781750
|
|
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)
|
rs1559500884
|
|
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys)
|
rs763847201
|
|
NM_000249.4(MLH1):c.1012A>C (p.Asn338His)
|
rs1575510814
|
|
NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)
|
|
|
NM_000249.4(MLH1):c.1013A>T (p.Asn338Ile)
|
rs63751467
|
|
NM_000249.4(MLH1):c.1018T>A (p.Ser340Thr)
|
|
|
NM_000249.4(MLH1):c.101_102delinsTT (p.Glu34Val)
|
rs2125694685
|
|
NM_000249.4(MLH1):c.1023G>T (p.Arg341Ser)
|
|
|
NM_000249.4(MLH1):c.1025T>C (p.Met342Thr)
|
rs1553648213
|
|
NM_000249.4(MLH1):c.1025T>G (p.Met342Arg)
|
rs1553648213
|
|
NM_000249.4(MLH1):c.1026G>A (p.Met342Ile)
|
rs1060500704
|
|
NM_000249.4(MLH1):c.1028A>C (p.Tyr343Ser)
|
|
|
NM_000249.4(MLH1):c.1028A>G (p.Tyr343Cys)
|
rs876660843
|
|
NM_000249.4(MLH1):c.102G>C (p.Glu34Asp)
|
|
|
NM_000249.4(MLH1):c.102G>T (p.Glu34Asp)
|
rs745876152
|
|
NM_000249.4(MLH1):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)
|
rs63751609
|
|
NM_000249.4(MLH1):c.1038+3C>T
|
rs2125855073
|
|
NM_000249.4(MLH1):c.1038+4A>C
|
rs1251478879
|
|
NM_000249.4(MLH1):c.1038+4A>G
|
rs1251478879
|
|
NM_000249.4(MLH1):c.1038+5G>T
|
rs780419140
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTAA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039A>G (p.Thr347Ala)
|
rs1191787581
|
|
NM_000249.4(MLH1):c.103A>C (p.Met35Leu)
|
|
|
NM_000249.4(MLH1):c.1046T>A (p.Leu349Gln)
|
rs2083387059
|
|
NM_000249.4(MLH1):c.1048C>T (p.Pro350Ser)
|
rs1553650541
|
|
NM_000249.4(MLH1):c.1049C>G (p.Pro350Arg)
|
rs1575533938
|
|
NM_000249.4(MLH1):c.1049C>T (p.Pro350Leu)
|
|
|
NM_000249.4(MLH1):c.1054C>T (p.Leu352Phe)
|
rs1162924533
|
|
NM_000249.4(MLH1):c.1055T>C (p.Leu352Pro)
|
rs2125880146
|
|
NM_000249.4(MLH1):c.1057G>A (p.Ala353Thr)
|
rs1412018144
|
|
NM_000249.4(MLH1):c.1058C>G (p.Ala353Gly)
|
rs63751265
|
|
NM_000249.4(MLH1):c.105G>T (p.Met35Ile)
|
rs1553637382
|
|
NM_000249.4(MLH1):c.1061G>A (p.Gly354Asp)
|
|
|
NM_000249.4(MLH1):c.1068T>A (p.Ser356=)
|
rs1060504000
|
|
NM_000249.4(MLH1):c.106A>T (p.Ile36Phe)
|
rs772251284
|
|
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys)
|
rs1553650621
|
|
NM_000249.4(MLH1):c.1072G>C (p.Glu358Gln)
|
rs1553650621
|
|
NM_000249.4(MLH1):c.1075A>T (p.Met359Leu)
|
rs1553650626
|
|
NM_000249.4(MLH1):c.1078G>C (p.Val360Leu)
|
rs878853775
|
|
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe)
|
rs878853775
|
|
NM_000249.4(MLH1):c.1079T>C (p.Val360Ala)
|
|
|
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu)
|
rs786201875
|
|
NM_000249.4(MLH1):c.1087A>G (p.Thr363Ala)
|
rs1376611280
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
NM_000249.4(MLH1):c.1093A>G (p.Ser365Gly)
|
|
|
NM_000249.4(MLH1):c.1096C>G (p.Leu366Val)
|
rs2125881021
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
NM_000249.4(MLH1):c.10G>C (p.Val4Leu)
|
rs1559500060
|
|
NM_000249.4(MLH1):c.1100C>T (p.Thr367Ile)
|
rs776402584
|
|
NM_000249.4(MLH1):c.1108T>C (p.Ser370Pro)
|
rs2125881275
|
|
NM_000249.4(MLH1):c.1109C>G (p.Ser370Cys)
|
|
|
NM_000249.4(MLH1):c.1111A>T (p.Thr371Ser)
|
rs762426947
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.1117G>C (p.Gly373Arg)
|
|
|
NM_000249.4(MLH1):c.111G>T (p.Glu37Asp)
|
rs864622485
|
|
NM_000249.4(MLH1):c.1121G>A (p.Ser374Asn)
|
rs1559552176
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
NM_000249.4(MLH1):c.1123A>C (p.Ser375Arg)
|
rs1060500694
|
|
NM_000249.4(MLH1):c.1123A>G (p.Ser375Gly)
|
rs1060500694
|
|
NM_000249.4(MLH1):c.1126G>A (p.Asp376Asn)
|
|
|
NM_000249.4(MLH1):c.1127A>T (p.Asp376Val)
|
rs1060500697
|
|
NM_000249.4(MLH1):c.1129A>G (p.Lys377Glu)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.1131G>T (p.Lys377Asn)
|
|
|
NM_000249.4(MLH1):c.1132G>A (p.Val378Ile)
|
rs2083403334
|
|
NM_000249.4(MLH1):c.1132G>T (p.Val378Phe)
|
rs2083403334
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1138G>A (p.Ala380Thr)
|
rs2083404527
|
|
NM_000249.4(MLH1):c.1138G>T (p.Ala380Ser)
|
|
|
NM_000249.4(MLH1):c.1145A>G (p.Gln382Arg)
|
|
|
NM_000249.4(MLH1):c.1146G>T (p.Gln382His)
|
rs876658801
|
|
NM_000249.4(MLH1):c.1147A>G (p.Met383Val)
|
rs1559552349
|
|
NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)
|
|
|
NM_000249.4(MLH1):c.1149G>A (p.Met383Ile)
|
rs2083407020
|
|
NM_000249.4(MLH1):c.1150G>T (p.Val384Phe)
|
rs757350157
|
|
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro)
|
rs63750430
|
|
NM_000249.4(MLH1):c.1154G>T (p.Arg385Leu)
|
rs63750430
|
|
NM_000249.4(MLH1):c.116+10G>T
|
rs1553637494
|
|
NM_000249.4(MLH1):c.116+3A>T
|
|
|
NM_000249.4(MLH1):c.116+4C>A
|
rs1057523910
|
|
NM_000249.4(MLH1):c.116+6G>A
|
rs1057522127
|
|
NM_000249.4(MLH1):c.116+6G>C
|
|
|
NM_000249.4(MLH1):c.1160A>G (p.Asp387Gly)
|
|
|
NM_000249.4(MLH1):c.1165C>G (p.Arg389Gly)
|
rs61751644
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe)
|
rs63751701
|
|
NM_000249.4(MLH1):c.117-3C>T
|
rs770919400
|
|
NM_000249.4(MLH1):c.117-6T>A
|
rs2081158776
|
|
NM_000249.4(MLH1):c.117-6T>G
|
rs2081158776
|
|
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)
|
rs587782884
|
|
NM_000249.4(MLH1):c.1177C>G (p.Leu393Val)
|
|
|
NM_000249.4(MLH1):c.1177C>T (p.Leu393Phe)
|
rs2083412995
|
|
NM_000249.4(MLH1):c.1178T>G (p.Leu393Arg)
|
rs786203413
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
NM_000249.4(MLH1):c.1180G>T (p.Asp394Tyr)
|
rs1575535572
|
|
NM_000249.4(MLH1):c.1181A>G (p.Asp394Gly)
|
rs1553650908
|
|
NM_000249.4(MLH1):c.1183G>T (p.Ala395Ser)
|
|
|
NM_000249.4(MLH1):c.1184C>T (p.Ala395Val)
|
rs1064794142
|
|
NM_000249.4(MLH1):c.1186T>A (p.Phe396Ile)
|
rs1262872092
|
|
NM_000249.4(MLH1):c.1192C>G (p.Gln398Glu)
|
rs63750483
|
|
NM_000249.4(MLH1):c.1194G>T (p.Gln398His)
|
|
|
NM_000249.4(MLH1):c.1195C>T (p.Pro399Ser)
|
rs876659657
|
|
NM_000249.4(MLH1):c.1196C>T (p.Pro399Leu)
|
rs1553650970
|
|
NM_000249.4(MLH1):c.119T>C (p.Leu40Ser)
|
|
|
NM_000249.4(MLH1):c.1201A>G (p.Ser401Gly)
|
rs2083417691
|
|
NM_000249.4(MLH1):c.1207C>A (p.Pro403Thr)
|
rs587778897
|
|
NM_000249.4(MLH1):c.120A>C (p.Leu40Phe)
|
rs1575394679
|
|
NM_000249.4(MLH1):c.1210C>A (p.Leu404Met)
|
rs1057517538
|
|
NM_000249.4(MLH1):c.1210C>G (p.Leu404Val)
|
rs1057517538
|
|
NM_000249.4(MLH1):c.1223C>A (p.Pro408His)
|
rs1241839317
|
|
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu)
|
rs63751153
|
|
NM_000249.4(MLH1):c.1226A>T (p.Gln409Leu)
|
|
|
NM_000249.4(MLH1):c.1228G>A (p.Ala410Thr)
|
rs2083423130
|
|
NM_000249.4(MLH1):c.1229C>T (p.Ala410Val)
|
rs761006237
|
|
NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)
|
rs535470039
|
|
NM_000249.4(MLH1):c.1232T>G (p.Ile411Ser)
|
rs786201951
|
|
NM_000249.4(MLH1):c.1244A>T (p.Asp415Val)
|
rs2083426298
|
|
NM_000249.4(MLH1):c.1246A>G (p.Lys416Glu)
|
rs267607823
|
|
NM_000249.4(MLH1):c.124G>A (p.Ala42Thr)
|
rs2081160631
|
|
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)
|
rs754898711
|
|
NM_000249.4(MLH1):c.1255A>G (p.Ile419Val)
|
rs781335662
|
|
NM_000249.4(MLH1):c.1259C>G (p.Ser420Cys)
|
rs63751179
|
|
NM_000249.4(MLH1):c.1259C>T (p.Ser420Phe)
|
rs63751179
|
|
NM_000249.4(MLH1):c.125C>G (p.Ala42Gly)
|
rs587778901
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
NM_000249.4(MLH1):c.1262G>A (p.Ser421Asn)
|
|
|
NM_000249.4(MLH1):c.1264G>A (p.Gly422Ser)
|
rs1553651157
|
|
NM_000249.4(MLH1):c.1265G>A (p.Gly422Asp)
|
rs1553651162
|
|
NM_000249.4(MLH1):c.1265G>C (p.Gly422Ala)
|
rs1553651162
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1269G>T (p.Arg423Ser)
|
|
|
NM_000249.4(MLH1):c.1271C>G (p.Ala424Gly)
|
rs745393750
|
|
NM_000249.4(MLH1):c.1271C>T (p.Ala424Val)
|
rs745393750
|
|
NM_000249.4(MLH1):c.1273A>G (p.Arg425Gly)
|
rs1575536889
|
|
NM_000249.4(MLH1):c.1274G>C (p.Arg425Thr)
|
rs1553651197
|
|
NM_000249.4(MLH1):c.1274G>T (p.Arg425Met)
|
rs1553651197
|
|
NM_000249.4(MLH1):c.1275G>T (p.Arg425Ser)
|
|
|
NM_000249.4(MLH1):c.1277A>C (p.Gln426Pro)
|
rs876659252
|
|
NM_000249.4(MLH1):c.1282G>A (p.Asp428Asn)
|
rs989382971
|
|
NM_000249.4(MLH1):c.1285GAG[1] (p.Glu430del)
|
rs1064795262
|
|
NM_000249.4(MLH1):c.1286A>C (p.Glu429Ala)
|
rs1559553545
|
|
NM_000249.4(MLH1):c.1288G>C (p.Glu430Gln)
|
rs1553651228
|
|
NM_000249.4(MLH1):c.1294C>G (p.Leu432Val)
|
rs876659787
|
|
NM_000249.4(MLH1):c.1297G>A (p.Glu433Lys)
|
rs63750443
|
|
NM_000249.4(MLH1):c.1301T>C (p.Leu434Pro)
|
rs1308786233
|
|
NM_000249.4(MLH1):c.1303C>A (p.Pro435Thr)
|
rs786202922
|
|
NM_000249.4(MLH1):c.1307C>T (p.Ala436Val)
|
rs2083439889
|
|
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala)
|
rs587782273
|
|
NM_000249.4(MLH1):c.1309C>T (p.Pro437Ser)
|
rs587782273
|
|
NM_000249.4(MLH1):c.1316A>G (p.Glu439Gly)
|
|
|
NM_000249.4(MLH1):c.1318G>A (p.Val440Met)
|
rs864622250
|
|
NM_000249.4(MLH1):c.1319T>C (p.Val440Ala)
|
rs1575537614
|
|
NM_000249.4(MLH1):c.131C>G (p.Ser44Cys)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1322C>T (p.Ala441Val)
|
rs1575537656
|
|
NM_000249.4(MLH1):c.1325C>A (p.Ala442Asp)
|
rs765563111
|
|
NM_000249.4(MLH1):c.1325C>G (p.Ala442Gly)
|
rs765563111
|
|
NM_000249.4(MLH1):c.1325C>T (p.Ala442Val)
|
|
|
NM_000249.4(MLH1):c.1334A>G (p.Gln445Arg)
|
rs2125885630
|
|
NM_000249.4(MLH1):c.133A>G (p.Thr45Ala)
|
rs876658416
|
|
NM_000249.4(MLH1):c.1343_1345dup (p.Glu448dup)
|
rs2125885754
|
|
NM_000249.4(MLH1):c.1344G>C (p.Glu448Asp)
|
rs587779952
|
|
NM_000249.4(MLH1):c.1344_1349del (p.Glu448_Gly449del)
|
rs1060500705
|
|
NM_000249.4(MLH1):c.1345G>A (p.Gly449Arg)
|
rs1275913630
|
|
NM_000249.4(MLH1):c.1345G>T (p.Gly449Trp)
|
|
|
NM_000249.4(MLH1):c.1346G>A (p.Gly449Glu)
|
rs1553651384
|
|
NM_000249.4(MLH1):c.1346G>C (p.Gly449Ala)
|
rs1553651384
|
|
NM_000249.4(MLH1):c.1348G>A (p.Asp450Asn)
|
rs752622244
|
|
NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)
|
rs752622244
|
|
NM_000249.4(MLH1):c.1349A>T (p.Asp450Val)
|
rs1575538147
|
|
NM_000249.4(MLH1):c.134C>G (p.Thr45Arg)
|
rs759287108
|
|
NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)
|
rs864622145
|
|
NM_000249.4(MLH1):c.1352C>T (p.Thr451Ile)
|
rs1553651407
|
|
NM_000249.4(MLH1):c.1358A>G (p.Lys453Arg)
|
rs1424963586
|
|
NM_000249.4(MLH1):c.1363A>G (p.Thr455Ala)
|
rs1575538410
|
|
NM_000249.4(MLH1):c.1364C>T (p.Thr455Ile)
|
rs2083451621
|
|
NM_000249.4(MLH1):c.1369G>A (p.Glu457Lys)
|
rs1559554162
|
|
NM_000249.4(MLH1):c.136A>G (p.Ser46Gly)
|
rs771649701
|
|
NM_000249.4(MLH1):c.1370A>C (p.Glu457Ala)
|
rs786203236
|
|
NM_000249.4(MLH1):c.1370A>G (p.Glu457Gly)
|
rs786203236
|
|
NM_000249.4(MLH1):c.1372A>G (p.Met458Val)
|
rs1457230874
|
|
NM_000249.4(MLH1):c.1373T>C (p.Met458Thr)
|
rs63750390
|
|
NM_000249.4(MLH1):c.1378G>C (p.Glu460Gln)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1378_1380del (p.Glu460del)
|
rs1575538686
|
|
NM_000249.4(MLH1):c.1382A>C (p.Lys461Thr)
|
rs2125886582
|
|
NM_000249.4(MLH1):c.1385G>C (p.Arg462Thr)
|
rs2083456911
|
|
NM_000249.4(MLH1):c.1387G>A (p.Gly463Arg)
|
|
|
NM_000249.4(MLH1):c.1390C>G (p.Pro464Ala)
|
rs2125886695
|
|
NM_000249.4(MLH1):c.1393A>G (p.Thr465Ala)
|
rs786202986
|
|
NM_000249.4(MLH1):c.1393A>T (p.Thr465Ser)
|
rs786202986
|
|
NM_000249.4(MLH1):c.1397C>T (p.Ser466Phe)
|
rs2125886790
|
|
NM_000249.4(MLH1):c.1399A>G (p.Ser467Gly)
|
|
|
NM_000249.4(MLH1):c.139A>G (p.Ile47Val)
|
rs1559505924
|
|
NM_000249.4(MLH1):c.13G>C (p.Ala5Pro)
|
rs1389945622
|
|
NM_000249.4(MLH1):c.1400G>C (p.Ser467Thr)
|
|
|
NM_000249.4(MLH1):c.1401C>G (p.Ser467Arg)
|
rs587778910
|
|
NM_000249.4(MLH1):c.1403A>G (p.Asn468Ser)
|
rs876659167
|
|
NM_000249.4(MLH1):c.1406C>A (p.Pro469His)
|
rs63750932
|
|
NM_000249.4(MLH1):c.1406C>G (p.Pro469Arg)
|
rs63750932
|
|
NM_000249.4(MLH1):c.1406C>T (p.Pro469Leu)
|
rs63750932
|
|
NM_000249.4(MLH1):c.1409+3A>T
|
|
|
NM_000249.4(MLH1):c.1409+4T>C
|
rs2083461768
|
|
NM_000249.4(MLH1):c.1409+6G>A
|
rs1553651602
|
|
NM_000249.4(MLH1):c.1409+6del
|
|
|
NM_000249.4(MLH1):c.1410-3C>G
|
rs2083690867
|
|
NM_000249.4(MLH1):c.1410-5T>A
|
rs1320434721
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
|
NM_000249.4(MLH1):c.1411A>G (p.Lys471Glu)
|
rs2083692093
|
|
NM_000249.4(MLH1):c.1415G>C (p.Arg472Thr)
|
|
|
NM_000249.4(MLH1):c.1416_1417delinsCA (p.Arg472_His473delinsSerAsn)
|
rs1553652889
|
|
NM_000249.4(MLH1):c.1418A>G (p.His473Arg)
|
rs1575552047
|
|
NM_000249.4(MLH1):c.1419T>G (p.His473Gln)
|
rs1468056204
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1423G>A (p.Glu475Lys)
|
|
|
NM_000249.4(MLH1):c.1426G>T (p.Asp476Tyr)
|
|
|
NM_000249.4(MLH1):c.142C>G (p.Gln48Glu)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1433A>G (p.Asp478Gly)
|
rs1064793174
|
|
NM_000249.4(MLH1):c.1433A>T (p.Asp478Val)
|
rs1064793174
|
|
NM_000249.4(MLH1):c.1435G>A (p.Val479Met)
|
rs1474913354
|
|
NM_000249.4(MLH1):c.1435G>C (p.Val479Leu)
|
rs1474913354
|
|
NM_000249.4(MLH1):c.1435G>T (p.Val479Leu)
|
|
|
NM_000249.4(MLH1):c.1440A>T (p.Glu480Asp)
|
rs1553652912
|
|
NM_000249.4(MLH1):c.1441A>G (p.Met481Val)
|
rs559012648
|
|
NM_000249.4(MLH1):c.1442TGG[1] (p.Val482del)
|
rs2083698349
|
|
NM_000249.4(MLH1):c.1442_1450del (p.Met481_Asp484delinsAsn)
|
rs2083698592
|
|
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile)
|
rs1559558400
|
|
NM_000249.4(MLH1):c.1444G>A (p.Val482Met)
|
rs1057089565
|
|
NM_000249.4(MLH1):c.1444G>T (p.Val482Leu)
|
rs1057089565
|
|
NM_000249.4(MLH1):c.1445T>C (p.Val482Ala)
|
rs376642306
|
|
NM_000249.4(MLH1):c.1450G>T (p.Asp484Tyr)
|
rs730881741
|
|
NM_000249.4(MLH1):c.1451A>T (p.Asp484Val)
|
|
|
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)
|
rs63750314
|
|
NM_000249.4(MLH1):c.1454A>G (p.Asp485Gly)
|
rs1553652952
|
|
NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)
|
rs532873141
|
|
NM_000249.4(MLH1):c.1460G>T (p.Arg487Leu)
|
rs587778917
|
|
NM_000249.4(MLH1):c.1463A>G (p.Lys488Arg)
|
|
|
NM_000249.4(MLH1):c.1464G>C (p.Lys488Asn)
|
rs2125902013
|
|
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala)
|
rs1553652986
|
|
NM_000249.4(MLH1):c.1467A>C (p.Glu489Asp)
|
rs2083703836
|
|
NM_000249.4(MLH1):c.1470G>A (p.Met490Ile)
|
rs1060500708
|
|
NM_000249.4(MLH1):c.1470G>C (p.Met490Ile)
|
rs1060500708
|
|
NM_000249.4(MLH1):c.1470G>T (p.Met490Ile)
|
rs1060500708
|
|
NM_000249.4(MLH1):c.1474G>C (p.Ala492Pro)
|
rs63751145
|
|
NM_000249.4(MLH1):c.1475C>T (p.Ala492Val)
|
rs1064794826
|
|
NM_000249.4(MLH1):c.1478C>T (p.Ala493Val)
|
rs1575552903
|
|
NM_000249.4(MLH1):c.1480T>G (p.Cys494Gly)
|
rs876660952
|
|
NM_000249.4(MLH1):c.1481G>A (p.Cys494Tyr)
|
rs876658198
|
|
NM_000249.4(MLH1):c.1484C>A (p.Thr495Asn)
|
rs1060500685
|
|
NM_000249.4(MLH1):c.1484C>T (p.Thr495Ile)
|
rs1060500685
|
|
NM_000249.4(MLH1):c.1486C>T (p.Pro496Ser)
|
rs2083708398
|
|
NM_000249.4(MLH1):c.1487C>A (p.Pro496His)
|
rs63750226
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly)
|
rs200830026
|
|
NM_000249.4(MLH1):c.148A>G (p.Ile50Val)
|
rs1478334062
|
|
NM_000249.4(MLH1):c.148A>T (p.Ile50Phe)
|
rs1478334062
|
|
NM_000249.4(MLH1):c.1492A>G (p.Arg498Gly)
|
rs1553653052
|
|
NM_000249.4(MLH1):c.1497G>T (p.Arg499Ser)
|
rs786202768
|
|
NM_000249.4(MLH1):c.149T>C (p.Ile50Thr)
|
|
|
NM_000249.4(MLH1):c.14C>T (p.Ala5Val)
|
rs878853779
|
|
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)
|
rs587778920
|
|
NM_000249.4(MLH1):c.1501A>C (p.Ile501Leu)
|
rs748613173
|
|
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val)
|
rs748613173
|
|
NM_000249.4(MLH1):c.1501A>T (p.Ile501Phe)
|
|
|
NM_000249.4(MLH1):c.1502T>C (p.Ile501Thr)
|
rs587780679
|
|
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser)
|
rs587780679
|
|
NM_000249.4(MLH1):c.1504A>C (p.Asn502His)
|
|
|
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp)
|
rs2125902825
|
|
NM_000249.4(MLH1):c.1506C>G (p.Asn502Lys)
|
rs997236053
|
|
NM_000249.4(MLH1):c.1507C>G (p.Leu503Val)
|
|
|
NM_000249.4(MLH1):c.1507C>T (p.Leu503Phe)
|
rs145679961
|
|
NM_000249.4(MLH1):c.1510A>G (p.Thr504Ala)
|
rs1553653095
|
|
NM_000249.4(MLH1):c.1511C>G (p.Thr504Ser)
|
rs876660707
|
|
NM_000249.4(MLH1):c.1511C>T (p.Thr504Ile)
|
rs876660707
|
|
NM_000249.4(MLH1):c.1513A>C (p.Ser505Arg)
|
rs2125903013
|
|
NM_000249.4(MLH1):c.1516G>A (p.Val506Ile)
|
|
|
NM_000249.4(MLH1):c.1519T>A (p.Leu507Met)
|
rs864622718
|
|
NM_000249.4(MLH1):c.1522A>G (p.Ser508Gly)
|
|
|
NM_000249.4(MLH1):c.1524T>A (p.Ser508Arg)
|
|
|
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg)
|
rs886058383
|
|
NM_000249.4(MLH1):c.1525C>T (p.Leu509Phe)
|
rs267607829
|
|
NM_000249.4(MLH1):c.152T>C (p.Val51Ala)
|
rs1553638767
|
|
NM_000249.4(MLH1):c.1531G>A (p.Glu511Lys)
|
|
|
NM_000249.4(MLH1):c.1540A>C (p.Asn514His)
|
rs1575553896
|
|
NM_000249.4(MLH1):c.1542T>A (p.Asn514Lys)
|
|
|
NM_000249.4(MLH1):c.1546C>G (p.Gln516Glu)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1547A>C (p.Gln516Pro)
|
rs2125903611
|
|
NM_000249.4(MLH1):c.1547A>G (p.Gln516Arg)
|
rs2125903611
|
|
NM_000249.4(MLH1):c.1549G>A (p.Gly517Arg)
|
rs63751705
|
|
NM_000249.4(MLH1):c.1552C>A (p.His518Asn)
|
rs1242032417
|
|
NM_000249.4(MLH1):c.1552C>T (p.His518Tyr)
|
rs1242032417
|
|
NM_000249.4(MLH1):c.1556A>G (p.Glu519Gly)
|
|
|
NM_000249.4(MLH1):c.1558+6T>A
|
rs730881749
|
|
NM_000249.4(MLH1):c.1558G>A (p.Val520Ile)
|
rs1400889356
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
NM_000249.4(MLH1):c.1559-1345A>C
|
|
|
NM_000249.4(MLH1):c.1559-16_1559-15insG
|
|
|
NM_000249.4(MLH1):c.1559T>A (p.Val520Asp)
|
|
|
NM_000249.4(MLH1):c.1559T>C (p.Val520Ala)
|
rs1200485334
|
|
NM_000249.4(MLH1):c.1559T>G (p.Val520Gly)
|
rs1200485334
|
|
NM_000249.4(MLH1):c.1561C>T (p.Leu521Phe)
|
rs63751688
|
|
NM_000249.4(MLH1):c.1564C>G (p.Arg522Gly)
|
rs63751703
|
|
NM_000249.4(MLH1):c.1569G>C (p.Glu523Asp)
|
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
NM_000249.4(MLH1):c.1572G>A (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1573T>G (p.Leu525Val)
|
rs63750137
|
|
NM_000249.4(MLH1):c.1574T>G (p.Leu525Trp)
|
|
|
NM_000249.4(MLH1):c.1578T>G (p.His526Gln)
|
rs1187742502
|
|
NM_000249.4(MLH1):c.1579A>G (p.Asn527Asp)
|
rs2125943905
|
|
NM_000249.4(MLH1):c.1581C>A (p.Asn527Lys)
|
|
|
NM_000249.4(MLH1):c.1582C>T (p.His528Tyr)
|
rs863224634
|
|
NM_000249.4(MLH1):c.1583A>G (p.His528Arg)
|
rs2084637671
|
|
NM_000249.4(MLH1):c.1586C>G (p.Ser529Cys)
|
rs1575594284
|
|
NM_000249.4(MLH1):c.1586C>T (p.Ser529Phe)
|
rs1575594284
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1589T>C (p.Phe530Ser)
|
rs1559574996
|
|
NM_000249.4(MLH1):c.1590C>A (p.Phe530Leu)
|
|
|
NM_000249.4(MLH1):c.1590C>G (p.Phe530Leu)
|
rs752241564
|
|
NM_000249.4(MLH1):c.1594G>T (p.Gly532Cys)
|
rs754447026
|
|
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)
|
rs2084640841
|
|
NM_000249.4(MLH1):c.1598G>A (p.Cys533Tyr)
|
rs564240478
|
|
NM_000249.4(MLH1):c.1598G>C (p.Cys533Ser)
|
rs564240478
|
|
NM_000249.4(MLH1):c.1598G>T (p.Cys533Phe)
|
rs564240478
|
|
NM_000249.4(MLH1):c.1601T>G (p.Val534Gly)
|
rs2125944397
|
|
NM_000249.4(MLH1):c.1606C>A (p.Pro536Thr)
|
rs1360598779
|
|
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
|
|
|
NM_000249.4(MLH1):c.1607C>T (p.Pro536Leu)
|
rs1553658032
|
|
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly)
|
rs1559575214
|
|
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser)
|
rs1559575256
|
|
NM_000249.4(MLH1):c.1618T>G (p.Leu540Val)
|
rs1448439825
|
|
NM_000249.4(MLH1):c.1620G>A (p.Leu540=)
|
rs786202409
|
|
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro)
|
rs1064793578
|
|
NM_000249.4(MLH1):c.1621_1622delinsTT (p.Ala541Leu)
|
rs2084646294
|
|
NM_000249.4(MLH1):c.1622C>T (p.Ala541Val)
|
rs757728402
|
|
NM_000249.4(MLH1):c.1625A>G (p.Gln542Arg)
|
rs63750511
|
|
NM_000249.4(MLH1):c.1625A>T (p.Gln542Leu)
|
rs63750511
|
|
NM_000249.4(MLH1):c.1633A>T (p.Thr545Ser)
|
|
|
NM_000249.4(MLH1):c.1634C>G (p.Thr545Ser)
|
|
|
NM_000249.4(MLH1):c.1636A>G (p.Lys546Glu)
|
rs1046979393
|
|
NM_000249.4(MLH1):c.163G>A (p.Gly55Ser)
|
rs1064796005
|
|
NM_000249.4(MLH1):c.1640_1642dup (p.Leu547dup)
|
rs1553658139
|
|
NM_000249.4(MLH1):c.1643A>G (p.Tyr548Cys)
|
|
|
NM_000249.4(MLH1):c.1645C>G (p.Leu549Val)
|
rs747090506
|
|
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro)
|
rs63750289
|
|
NM_000249.4(MLH1):c.1646T>G (p.Leu549Arg)
|
rs63750289
|
|
NM_000249.4(MLH1):c.1648C>G (p.Leu550Val)
|
rs1210480235
|
|
NM_000249.4(MLH1):c.164G>A (p.Gly55Asp)
|
rs1553638787
|
|
NM_000249.4(MLH1):c.164G>T (p.Gly55Val)
|
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1652A>T (p.Asn551Ile)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1655C>T (p.Thr552Ile)
|
rs2125945758
|
|
NM_000249.4(MLH1):c.1658C>A (p.Thr553Asn)
|
rs781270312
|
|
NM_000249.4(MLH1):c.1658C>T (p.Thr553Ile)
|
rs781270312
|
|
NM_000249.4(MLH1):c.1663C>G (p.Leu555Val)
|
|
|
NM_000249.4(MLH1):c.1663_1665dup (p.Leu555dup)
|
rs2125945936
|
|
NM_000249.4(MLH1):c.1667+3A>C
|
rs2084657932
|
|
NM_000249.4(MLH1):c.1667+4A>C
|
rs983986337
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
|
NM_000249.4(MLH1):c.1667+6T>A
|
|
|
NM_000249.4(MLH1):c.1667+8A>C
|
rs1553658260
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1668-13T>G
|
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
NM_000249.4(MLH1):c.1668-5T>G
|
rs1559578408
|
|
NM_000249.4(MLH1):c.1669GAA[1] (p.Glu558del)
|
|
|
NM_000249.4(MLH1):c.166C>G (p.Leu56Val)
|
|
|
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg)
|
rs63750059
|
|
NM_000249.4(MLH1):c.1680C>G (p.Phe560Leu)
|
rs2125957298
|
|
NM_000249.4(MLH1):c.1683C>T (p.Tyr561=)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)
|
rs1553659377
|
|
NM_000249.4(MLH1):c.1687A>C (p.Ile563Leu)
|
rs876660124
|
|
NM_000249.4(MLH1):c.1687A>G (p.Ile563Val)
|
rs876660124
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
NM_000249.4(MLH1):c.1691T>C (p.Leu564Pro)
|
rs2125957548
|
|
NM_000249.4(MLH1):c.1693A>G (p.Ile565Val)
|
rs63750062
|
|
NM_000249.4(MLH1):c.1696T>C (p.Tyr566His)
|
rs730881743
|
|
NM_000249.4(MLH1):c.169A>C (p.Lys57Gln)
|
rs63750877
|
|
NM_000249.4(MLH1):c.16G>A (p.Gly6Arg)
|
|
|
NM_000249.4(MLH1):c.1701T>A (p.Asp567Glu)
|
rs1060500711
|
|
NM_000249.4(MLH1):c.1703T>C (p.Phe568Ser)
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.170A>C (p.Lys57Thr)
|
rs587779955
|
|
NM_000249.4(MLH1):c.170A>G (p.Lys57Arg)
|
rs587779955
|
|
NM_000249.4(MLH1):c.170A>T (p.Lys57Met)
|
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1717G>A (p.Val573Ile)
|
rs1553659455
|
|
NM_000249.4(MLH1):c.1718T>C (p.Val573Ala)
|
rs2084811963
|
|
NM_000249.4(MLH1):c.1720C>G (p.Leu574Val)
|
rs2084812412
|
|
NM_000249.4(MLH1):c.1728A>C (p.Leu576Phe)
|
rs1553659479
|
|
NM_000249.4(MLH1):c.1729T>C (p.Ser577Pro)
|
rs2125958292
|
|
NM_000249.4(MLH1):c.1731+11A>T
|
rs886058384
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
NM_000249.4(MLH1):c.1731+3A>C
|
rs267607851
|
|
NM_000249.4(MLH1):c.1731+6T>A
|
rs587778940
|
|
NM_000249.4(MLH1):c.1731+6T>C
|
|
|
NM_000249.4(MLH1):c.1731+6T>G
|
rs587778940
|
|
NM_000249.4(MLH1):c.1731G>C (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-19T>G
|
rs77120160
|
|
NM_000249.4(MLH1):c.1732-3T>G
|
rs1207710123
|
|
NM_000249.4(MLH1):c.1734G>C (p.Glu578Asp)
|
rs1553662589
|
|
NM_000249.4(MLH1):c.1736C>A (p.Pro579Gln)
|
rs2085285934
|
|
NM_000249.4(MLH1):c.1738G>A (p.Ala580Thr)
|
rs864622530
|
|
NM_000249.4(MLH1):c.1738G>C (p.Ala580Pro)
|
rs864622530
|
|
NM_000249.4(MLH1):c.173T>C (p.Leu58Ser)
|
|
|
NM_000249.4(MLH1):c.174G>T (p.Leu58Phe)
|
rs762162504
|
|
NM_000249.4(MLH1):c.1750G>T (p.Asp584Tyr)
|
rs2125984324
|
|
NM_000249.4(MLH1):c.1752C>G (p.Asp584Glu)
|
rs878853783
|
|
NM_000249.4(MLH1):c.1753C>T (p.Leu585Phe)
|
|
|
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)
|
rs267607865
|
|
NM_000249.4(MLH1):c.1757C>T (p.Ala586Val)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1759A>G (p.Met587Val)
|
rs267607862
|
|
NM_000249.4(MLH1):c.175A>G (p.Ile59Val)
|
rs2081169952
|
|
NM_000249.4(MLH1):c.175A>T (p.Ile59Phe)
|
rs2081169952
|
|
NM_000249.4(MLH1):c.1763T>C (p.Leu588Pro)
|
rs63750575
|
|
NM_000249.4(MLH1):c.1765G>A (p.Ala589Thr)
|
rs1575620723
|
|
NM_000249.4(MLH1):c.1765G>C (p.Ala589Pro)
|
|
|
NM_000249.4(MLH1):c.1765G>T (p.Ala589Ser)
|
|
|
NM_000249.4(MLH1):c.1765_1766delinsTT (p.Ala589Phe)
|
rs1575620732
|
|
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)
|
rs63750016
|
|
NM_000249.4(MLH1):c.1768T>G (p.Leu590Val)
|
rs927866628
|
|
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn)
|
rs1559506199
|
|
NM_000249.4(MLH1):c.1771G>C (p.Asp591His)
|
rs2085295293
|
|
NM_000249.4(MLH1):c.1772A>G (p.Asp591Gly)
|
rs2085295506
|
|
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)
|
rs2125984638
|
|
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)
|
rs587782621
|
|
NM_000249.4(MLH1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_000249.4(MLH1):c.177T>G (p.Ile59Met)
|
rs1553638801
|
|
NM_000249.4(MLH1):c.1780G>A (p.Glu594Lys)
|
rs1553662786
|
|
NM_000249.4(MLH1):c.1780G>C (p.Glu594Gln)
|
rs1553662786
|
|
NM_000249.4(MLH1):c.1782G>C (p.Glu594Asp)
|
rs915595144
|
|
NM_000249.4(MLH1):c.1783A>C (p.Ser595Arg)
|
rs876658763
|
|
NM_000249.4(MLH1):c.1783A>G (p.Ser595Gly)
|
|
|
NM_000249.4(MLH1):c.1783A>T (p.Ser595Cys)
|
rs876658763
|
|
NM_000249.4(MLH1):c.1786G>A (p.Gly596Ser)
|
rs1173853120
|
|
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1792A>C (p.Thr598Pro)
|
rs763381491
|
|
NM_000249.4(MLH1):c.1795G>A (p.Glu599Lys)
|
rs1559587820
|
|
NM_000249.4(MLH1):c.1797G>C (p.Glu599Asp)
|
rs1297804471
|
|
NM_000249.4(MLH1):c.17G>T (p.Gly6Val)
|
|
|
NM_000249.4(MLH1):c.1801G>A (p.Asp601Asn)
|
rs2085302095
|
|
NM_000249.4(MLH1):c.1801G>T (p.Asp601Tyr)
|
rs2085302095
|
|
NM_000249.4(MLH1):c.1802A>G (p.Asp601Gly)
|
rs63750718
|
|
NM_000249.4(MLH1):c.1803T>A (p.Asp601Glu)
|
rs2085302536
|
|
NM_000249.4(MLH1):c.1805G>A (p.Gly602Asp)
|
rs1575621218
|
|
NM_000249.4(MLH1):c.1806_1817del (p.Pro603_Gly606del)
|
|
|
NM_000249.4(MLH1):c.1807C>T (p.Pro603Ser)
|
rs1575621244
|
|
NM_000249.4(MLH1):c.1808C>T (p.Pro603Leu)
|
rs63750876
|
|
NM_000249.4(MLH1):c.180G>T (p.Gln60His)
|
|
|
NM_000249.4(MLH1):c.1810A>C (p.Lys604Gln)
|
|
|
NM_000249.4(MLH1):c.1811A>G (p.Lys604Arg)
|
rs1064795524
|
|
NM_000249.4(MLH1):c.1811AAG[1] (p.Glu605del)
|
rs2085304896
|
|
NM_000249.4(MLH1):c.1814A>C (p.Glu605Ala)
|
rs2085305097
|
|
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg)
|
rs2125985111
|
|
NM_000249.4(MLH1):c.1819C>G (p.Leu607Val)
|
rs1553662916
|
|
NM_000249.4(MLH1):c.181A>G (p.Ile61Val)
|
rs1060500690
|
|
NM_000249.4(MLH1):c.1822G>C (p.Ala608Pro)
|
rs147928948
|
|
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1825G>A (p.Glu609Lys)
|
rs1064794740
|
|
NM_000249.4(MLH1):c.1826A>C (p.Glu609Ala)
|
rs2125985229
|
|
NM_000249.4(MLH1):c.182T>G (p.Ile61Ser)
|
rs1553638805
|
|
NM_000249.4(MLH1):c.1831A>C (p.Ile611Leu)
|
rs2085308725
|
|
NM_000249.4(MLH1):c.1831A>G (p.Ile611Val)
|
rs2085308725
|
|
NM_000249.4(MLH1):c.1832T>C (p.Ile611Thr)
|
rs141688321
|
|
NM_000249.4(MLH1):c.1835T>C (p.Val612Ala)
|
rs2085310197
|
|
NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)
|
|
|
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp)
|
rs876658919
|
|
NM_000249.4(MLH1):c.1840T>C (p.Phe614Leu)
|
rs2125985435
|
|
NM_000249.4(MLH1):c.1848G>T (p.Lys616Asn)
|
rs1553663004
|
|
NM_000249.4(MLH1):c.1849A>G (p.Lys617Glu)
|
rs1575621757
|
|
NM_000249.4(MLH1):c.1850A>T (p.Lys617Met)
|
rs780199021
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1854G>A (p.Lys618=)
|
rs786202638
|
|
NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)
|
rs267607866
|
|
NM_000249.4(MLH1):c.1855G>T (p.Ala619Ser)
|
rs267607866
|
|
NM_000249.4(MLH1):c.185A>C (p.Gln62Pro)
|
rs2081171469
|
|
NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)
|
rs2081171469
|
|
NM_000249.4(MLH1):c.1864C>G (p.Leu622Val)
|
|
|
NM_000249.4(MLH1):c.1864C>T (p.Leu622Phe)
|
|
|
NM_000249.4(MLH1):c.1867G>C (p.Ala623Pro)
|
rs587778951
|
|
NM_000249.4(MLH1):c.1868C>T (p.Ala623Val)
|
rs1060500686
|
|
NM_000249.4(MLH1):c.186A>G (p.Gln62=)
|
rs1559506261
|
|
NM_000249.4(MLH1):c.1871A>T (p.Asp624Val)
|
rs2125985850
|
|
NM_000249.4(MLH1):c.1872_1886del (p.Asp624_Leu628del)
|
rs2085318332
|
|
NM_000249.4(MLH1):c.1873T>C (p.Tyr625His)
|
rs1413395234
|
|
NM_000249.4(MLH1):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.1878C>A (p.Phe626Leu)
|
rs63751214
|
|
NM_000249.4(MLH1):c.1879T>G (p.Ser627Ala)
|
|
|
NM_000249.4(MLH1):c.1880C>G (p.Ser627Cys)
|
rs2085321507
|
|
NM_000249.4(MLH1):c.1883T>C (p.Leu628Ser)
|
rs1553663159
|
|
NM_000249.4(MLH1):c.1887A>T (p.Glu629Asp)
|
rs1064794506
|
|
NM_000249.4(MLH1):c.1888A>G (p.Ile630Val)
|
rs2125986105
|
|
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn)
|
rs1559588836
|
|
NM_000249.4(MLH1):c.1889T>C (p.Ile630Thr)
|
|
|
NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_000249.4(MLH1):c.1895A>G (p.Glu632Gly)
|
rs1064793638
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.1897-3C>G
|
rs748763466
|
|
NM_000249.4(MLH1):c.1897G>A (p.Glu633Lys)
|
|
|
NM_000249.4(MLH1):c.1905C>A (p.Asn635Lys)
|
rs63751047
|
|
NM_000249.4(MLH1):c.1905C>G (p.Asn635Lys)
|
rs63751047
|
|
NM_000249.4(MLH1):c.1906C>G (p.Leu636Val)
|
rs864622673
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
NM_000249.4(MLH1):c.1909A>G (p.Ile637Val)
|
|
|
NM_000249.4(MLH1):c.190A>T (p.Asn64Tyr)
|
rs1553638834
|
|
NM_000249.4(MLH1):c.1910T>C (p.Ile637Thr)
|
rs1575627499
|
|
NM_000249.4(MLH1):c.1910T>G (p.Ile637Ser)
|
rs1575627499
|
|
NM_000249.4(MLH1):c.1911T>G (p.Ile637Met)
|
rs876660209
|
|
NM_000249.4(MLH1):c.1912G>C (p.Gly638Arg)
|
rs63750549
|
|
NM_000249.4(MLH1):c.1916T>C (p.Leu639Ser)
|
|
|
NM_000249.4(MLH1):c.1917A>T (p.Leu639Phe)
|
rs63750935
|
|
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)
|
rs577217817
|
|
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln)
|
rs1559590916
|
|
NM_000249.4(MLH1):c.1927A>G (p.Ile643Val)
|
|
|
NM_000249.4(MLH1):c.1928T>C (p.Ile643Thr)
|
rs1553663856
|
|
NM_000249.4(MLH1):c.1934A>G (p.Asn645Ser)
|
rs587778963
|
|
NM_000249.4(MLH1):c.1935C>A (p.Asn645Lys)
|
rs863224636
|
|
NM_000249.4(MLH1):c.1935C>G (p.Asn645Lys)
|
rs863224636
|
|
NM_000249.4(MLH1):c.1936T>A (p.Tyr646Asn)
|
rs1553663884
|
|
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His)
|
rs1553663884
|
|
NM_000249.4(MLH1):c.1937A>C (p.Tyr646Ser)
|
rs35045067
|
|
NM_000249.4(MLH1):c.1939G>T (p.Val647Leu)
|
rs63750109
|
|
NM_000249.4(MLH1):c.1940T>C (p.Val647Ala)
|
rs876660811
|
|
NM_000249.4(MLH1):c.1946C>T (p.Pro649Leu)
|
rs2125990619
|
|
NM_000249.4(MLH1):c.1949T>C (p.Leu650Ser)
|
rs1553663957
|
|
NM_000249.4(MLH1):c.194G>T (p.Gly65Val)
|
rs63751465
|
|
NM_000249.4(MLH1):c.1955G>A (p.Gly652Glu)
|
rs1575628331
|
|
NM_000249.4(MLH1):c.1957C>G (p.Leu653Val)
|
rs2125990784
|
|
NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)
|
rs1559591314
|
|
NM_000249.4(MLH1):c.1962_1967dup (p.Ile657_Leu658insPheIle)
|
|
|
NM_000249.4(MLH1):c.1963A>T (p.Ile655Phe)
|
rs55907433
|
|
NM_000249.4(MLH1):c.1966T>G (p.Phe656Val)
|
|
|
NM_000249.4(MLH1):c.1969A>G (p.Ile657Val)
|
rs765363859
|
|
NM_000249.4(MLH1):c.196A>G (p.Thr66Ala)
|
rs876660926
|
|
NM_000249.4(MLH1):c.196A>T (p.Thr66Ser)
|
|
|
NM_000249.4(MLH1):c.1970T>C (p.Ile657Thr)
|
rs2085425794
|
|
NM_000249.4(MLH1):c.1972C>A (p.Leu658Ile)
|
|
|
NM_000249.4(MLH1):c.1972C>T (p.Leu658Phe)
|
rs1575628596
|
|
NM_000249.4(MLH1):c.1973T>C (p.Leu658Pro)
|
rs786202050
|
|
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)
|
rs1559591546
|
|
NM_000249.4(MLH1):c.1984A>G (p.Thr662Ala)
|
|
|
NM_000249.4(MLH1):c.1984A>T (p.Thr662Ser)
|
rs587778964
|
|
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile)
|
rs1559591605
|
|
NM_000249.4(MLH1):c.1987G>A (p.Glu663Lys)
|
rs876658883
|
|
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)
|
rs63751682
|
|
NM_000249.4(MLH1):c.1989+4A>C
|
rs587778965
|
|
NM_000249.4(MLH1):c.1989+4A>G
|
rs587778965
|
|
NM_000249.4(MLH1):c.1989+5G>A
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+6T>C
|
rs1206881555
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
NM_000249.4(MLH1):c.1990-4C>G
|
|
|
NM_000249.4(MLH1):c.1990-7G>A
|
rs1553664282
|
|
NM_000249.4(MLH1):c.1991T>G (p.Val664Gly)
|
rs786202938
|
|
NM_000249.4(MLH1):c.1993A>G (p.Asn665Asp)
|
rs1251779788
|
|
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser)
|
rs886039424
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2001C>A (p.Asp667Glu)
|
rs63750014
|
|
NM_000249.4(MLH1):c.2002G>A (p.Glu668Lys)
|
rs63750292
|
|
NM_000249.4(MLH1):c.2003A>G (p.Glu668Gly)
|
rs1559592416
|
|
NM_000249.4(MLH1):c.2005G>A (p.Glu669Lys)
|
rs780406337
|
|
NM_000249.4(MLH1):c.2006A>G (p.Glu669Gly)
|
rs2085464245
|
|
NM_000249.4(MLH1):c.2009A>G (p.Lys670Arg)
|
rs905983196
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2012A>C (p.Glu671Ala)
|
rs864622182
|
|
NM_000249.4(MLH1):c.2012A>G (p.Glu671Gly)
|
rs864622182
|
|
NM_000249.4(MLH1):c.2014T>A (p.Cys672Ser)
|
rs2085466553
|
|
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)
|
rs755577490
|
|
NM_000249.4(MLH1):c.2024G>A (p.Ser675Asn)
|
rs781637991
|
|
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr)
|
rs781637991
|
|
NM_000249.4(MLH1):c.2024G>T (p.Ser675Ile)
|
rs781637991
|
|
NM_000249.4(MLH1):c.2027T>A (p.Leu676His)
|
|
|
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)
|
rs63750242
|
|
NM_000249.4(MLH1):c.2029A>G (p.Ser677Gly)
|
|
|
NM_000249.4(MLH1):c.2029A>T (p.Ser677Cys)
|
rs587780681
|
|
NM_000249.4(MLH1):c.2030G>A (p.Ser677Asn)
|
rs587778970
|
|
NM_000249.4(MLH1):c.2030G>C (p.Ser677Thr)
|
rs587778970
|
|
NM_000249.4(MLH1):c.2030G>T (p.Ser677Ile)
|
rs587778970
|
|
NM_000249.4(MLH1):c.2031T>G (p.Ser677Arg)
|
rs2125993439
|
|
NM_000249.4(MLH1):c.2032A>G (p.Lys678Glu)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2033A>G (p.Lys678Arg)
|
rs1559592677
|
|
NM_000249.4(MLH1):c.2036A>C (p.Glu679Ala)
|
rs749305196
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2044A>G (p.Met682Val)
|
rs2085473279
|
|
NM_000249.4(MLH1):c.2045T>C (p.Met682Thr)
|
rs1060500693
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2049C>G (p.Phe683Leu)
|
rs1449199195
|
|
NM_000249.4(MLH1):c.204C>G (p.Ile68Met)
|
rs780141938
|
|
NM_000249.4(MLH1):c.2050T>G (p.Tyr684Asp)
|
rs1386031101
|
|
NM_000249.4(MLH1):c.2051A>C (p.Tyr684Ser)
|
rs267607886
|
|
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)
|
rs267607886
|
|
NM_000249.4(MLH1):c.2051A>T (p.Tyr684Phe)
|
|
|
NM_000249.4(MLH1):c.2053T>G (p.Ser685Ala)
|
rs2085475142
|
|
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2056A>G (p.Ile686Val)
|
|
|
NM_000249.4(MLH1):c.2057T>C (p.Ile686Thr)
|
rs1575631789
|
|
NM_000249.4(MLH1):c.2058C>G (p.Ile686Met)
|
rs1242136178
|
|
NM_000249.4(MLH1):c.2059C>G (p.Arg687Gly)
|
rs63751275
|
|
NM_000249.4(MLH1):c.2065C>A (p.Gln689Lys)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2066A>T (p.Gln689Leu)
|
|
|
NM_000249.4(MLH1):c.2067G>C (p.Gln689His)
|
|
|
NM_000249.4(MLH1):c.2068T>C (p.Tyr690His)
|
|
|
NM_000249.4(MLH1):c.2068T>G (p.Tyr690Asp)
|
|
|
NM_000249.4(MLH1):c.2069A>C (p.Tyr690Ser)
|
rs2085479072
|
|
NM_000249.4(MLH1):c.2069A>G (p.Tyr690Cys)
|
rs2085479072
|
|
NM_000249.4(MLH1):c.206G>A (p.Arg69Lys)
|
rs63751661
|
|
NM_000249.4(MLH1):c.206G>C (p.Arg69Thr)
|
rs63751661
|
|
NM_000249.4(MLH1):c.207+3A>G
|
rs1184598875
|
|
NM_000249.4(MLH1):c.207+4A>G
|
rs751630726
|
|
NM_000249.4(MLH1):c.207+5G>A
|
rs587781518
|
|
NM_000249.4(MLH1):c.2071A>C (p.Ile691Leu)
|
rs201748079
|
|
NM_000249.4(MLH1):c.2077GAG[1] (p.Glu694del)
|
rs1575632231
|
|
NM_000249.4(MLH1):c.2079G>C (p.Glu693Asp)
|
|
|
NM_000249.4(MLH1):c.208-17T>A
|
|
|
NM_000249.4(MLH1):c.208-7C>G
|
rs2125735235
|
|
NM_000249.4(MLH1):c.208-8T>A
|
|
|
NM_000249.4(MLH1):c.208-8T>C
|
rs2081459296
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2086A>G (p.Thr696Ala)
|
rs2148511936
|
|
NM_000249.4(MLH1):c.2087C>A (p.Thr696Asn)
|
rs868502951
|
|
NM_000249.4(MLH1):c.2087C>T (p.Thr696Ile)
|
rs868502951
|
|
NM_000249.4(MLH1):c.2089C>G (p.Leu697Val)
|
rs876661149
|
|
NM_000249.4(MLH1):c.208A>G (p.Lys70Glu)
|
rs1241846894
|
|
NM_000249.4(MLH1):c.2093C>T (p.Ser698Leu)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000249.4(MLH1):c.2099A>G (p.Gln700Arg)
|
rs2148512249
|
|
NM_000249.4(MLH1):c.209A>G (p.Lys70Arg)
|
|
|
NM_000249.4(MLH1):c.20T>C (p.Val7Ala)
|
|
|
NM_000249.4(MLH1):c.2103+4C>G
|
rs1575632698
|
|
NM_000249.4(MLH1):c.2103+6G>C
|
rs1057521607
|
|
NM_000249.4(MLH1):c.2103G>A (p.Gln701=)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2104-10T>G
|
rs2148521562
|
|
NM_000249.4(MLH1):c.2104-3C>T
|
|
|
NM_000249.4(MLH1):c.2105G>A (p.Ser702Asn)
|
|
|
NM_000249.4(MLH1):c.2107G>C (p.Glu703Gln)
|
rs747727493
|
|
NM_000249.4(MLH1):c.2108A>C (p.Glu703Ala)
|
rs1553665500
|
|
NM_000249.4(MLH1):c.2110G>A (p.Val704Met)
|
rs587781811
|
|
NM_000249.4(MLH1):c.2110G>C (p.Val704Leu)
|
rs587781811
|
|
NM_000249.4(MLH1):c.2111T>C (p.Val704Ala)
|
rs587780682
|
|
NM_000249.4(MLH1):c.2111T>G (p.Val704Gly)
|
rs587780682
|
|
NM_000249.4(MLH1):c.2119T>C (p.Ser707Pro)
|
rs1575639437
|
|
NM_000249.4(MLH1):c.2123T>C (p.Ile708Thr)
|
rs1559595807
|
|
NM_000249.4(MLH1):c.2126C>G (p.Pro709Arg)
|
|
|
NM_000249.4(MLH1):c.2128A>C (p.Asn710His)
|
rs1559595840
|
|
NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)
|
rs1559595840
|
|
NM_000249.4(MLH1):c.212A>G (p.Glu71Gly)
|
rs1553640185
|
|
NM_000249.4(MLH1):c.2130C>G (p.Asn710Lys)
|
rs749100096
|
|
NM_000249.4(MLH1):c.2131T>C (p.Ser711Pro)
|
rs587781342
|
|
NM_000249.4(MLH1):c.2134T>C (p.Trp712Arg)
|
|
|
NM_000249.4(MLH1):c.2136G>C (p.Trp712Cys)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2138A>C (p.Lys713Thr)
|
rs878853786
|
|
NM_000249.4(MLH1):c.2139G>C (p.Lys713Asn)
|
rs2085624190
|
|
NM_000249.4(MLH1):c.2140T>C (p.Trp714Arg)
|
rs1575639745
|
|
NM_000249.4(MLH1):c.2149G>A (p.Glu717Lys)
|
rs1575639882
|
|
NM_000249.4(MLH1):c.214G>A (p.Asp72Asn)
|
rs1553640187
|
|
NM_000249.4(MLH1):c.214G>T (p.Asp72Tyr)
|
rs1553640187
|
|
NM_000249.4(MLH1):c.2154C>A (p.His718Gln)
|
|
|
NM_000249.4(MLH1):c.2155A>C (p.Ile719Leu)
|
rs754225520
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
NM_000249.4(MLH1):c.2156T>C (p.Ile719Thr)
|
rs757603534
|
|
NM_000249.4(MLH1):c.2157T>G (p.Ile719Met)
|
rs2148523430
|
|
NM_000249.4(MLH1):c.2159T>C (p.Val720Ala)
|
rs587778985
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.215A>G (p.Asp72Gly)
|
rs1553640189
|
|
NM_000249.4(MLH1):c.2162A>C (p.Tyr721Ser)
|
rs587778986
|
|
NM_000249.4(MLH1):c.2164A>G (p.Lys722Glu)
|
rs750596783
|
|
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)
|
rs786203433
|
|
NM_000249.4(MLH1):c.2173C>A (p.Arg725Ser)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2179C>T (p.His727Tyr)
|
rs2085636960
|
|
NM_000249.4(MLH1):c.217C>A (p.Leu73Met)
|
rs766608278
|
|
NM_000249.4(MLH1):c.217C>G (p.Leu73Val)
|
rs766608278
|
|
NM_000249.4(MLH1):c.2180A>G (p.His727Arg)
|
rs104895002
|
|
NM_000249.4(MLH1):c.2180A>T (p.His727Leu)
|
rs104895002
|
|
NM_000249.4(MLH1):c.2181C>G (p.His727Gln)
|
|
|
NM_000249.4(MLH1):c.2182A>T (p.Ile728Phe)
|
rs2148524105
|
|
NM_000249.4(MLH1):c.2184T>G (p.Ile728Met)
|
rs1057524100
|
|
NM_000249.4(MLH1):c.2186T>C (p.Leu729Pro)
|
rs1553665798
|
|
NM_000249.4(MLH1):c.2189C>T (p.Pro730Leu)
|
rs2085638799
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser)
|
rs876661188
|
|
NM_000249.4(MLH1):c.2192C>A (p.Pro731His)
|
rs2148524373
|
|
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2194A>G (p.Lys732Glu)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195A>C (p.Lys732Thr)
|
rs2148524501
|
|
NM_000249.4(MLH1):c.2197C>T (p.His733Tyr)
|
rs1553665846
|
|
NM_000249.4(MLH1):c.2198A>G (p.His733Arg)
|
rs770579083
|
|
NM_000249.4(MLH1):c.2204C>G (p.Thr735Arg)
|
rs1462634271
|
|
NM_000249.4(MLH1):c.2204C>T (p.Thr735Ile)
|
rs1462634271
|
|
NM_000249.4(MLH1):c.220G>A (p.Asp74Asn)
|
rs1559511890
|
|
NM_000249.4(MLH1):c.220G>T (p.Asp74Tyr)
|
|
|
NM_000249.4(MLH1):c.2210A>G (p.Asp737Gly)
|
rs267607885
|
|
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)
|
rs267607885
|
|
NM_000249.4(MLH1):c.2216A>C (p.Asn739Thr)
|
rs2148524934
|
|
NM_000249.4(MLH1):c.2217T>G (p.Asn739Lys)
|
rs1553665880
|
|
NM_000249.4(MLH1):c.2220C>G (p.Ile740Met)
|
rs1313998916
|
|
NM_000249.4(MLH1):c.2221C>A (p.Leu741Met)
|
rs786203583
|
|
NM_000249.4(MLH1):c.2227C>T (p.Leu743Phe)
|
rs1575641138
|
|
NM_000249.4(MLH1):c.2228T>A (p.Leu743His)
|
rs864622258
|
|
NM_000249.4(MLH1):c.2231C>T (p.Ala744Val)
|
rs775127059
|
|
NM_000249.4(MLH1):c.2237T>C (p.Leu746Pro)
|
rs2085649541
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
NM_000249.4(MLH1):c.223A>G (p.Ile75Val)
|
rs1060500701
|
|
NM_000249.4(MLH1):c.223A>T (p.Ile75Phe)
|
rs1060500701
|
|
NM_000249.4(MLH1):c.2242G>A (p.Asp748Asn)
|
rs374380262
|
|
NM_000249.4(MLH1):c.2248T>C (p.Tyr750His)
|
rs777054430
|
|
NM_000249.4(MLH1):c.2249A>C (p.Tyr750Ser)
|
|
|
NM_000249.4(MLH1):c.2249A>G (p.Tyr750Cys)
|
rs2085652372
|
|
NM_000249.4(MLH1):c.224T>C (p.Ile75Thr)
|
rs876660839
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2252_2254dup (p.Lys751_Val752insGlu)
|
|
|
NM_000249.4(MLH1):c.2255T>C (p.Val752Ala)
|
|
|
NM_000249.4(MLH1):c.2260G>A (p.Glu754Lys)
|
rs864622445
|
|
NM_000249.4(MLH1):c.2260G>C (p.Glu754Gln)
|
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser)
|
rs267607895
|
|
NM_000249.4(MLH1):c.2266T>G (p.Cys756Gly)
|
rs765480781
|
|
NM_000249.4(MLH1):c.2267G>A (p.Cys756Tyr)
|
rs1553666145
|
|
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys)
|
rs587778995
|
|
NM_000249.4(MLH1):c.226G>T (p.Val76Leu)
|
rs878853788
|
|
NM_000249.4(MLH1):c.2271_*3dup (p.Ter757=)
|
rs2148526779
|
|
NM_000249.4(MLH1):c.227T>A (p.Val76Glu)
|
rs1434599441
|
|
NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)
|
rs63749859
|
|
NM_000249.4(MLH1):c.22A>C (p.Ile8Leu)
|
|
|
NM_000249.4(MLH1):c.22A>T (p.Ile8Phe)
|
|
|
NM_000249.4(MLH1):c.233A>C (p.Glu78Ala)
|
rs1575414337
|
|
NM_000249.4(MLH1):c.235A>G (p.Arg79Gly)
|
rs786203362
|
|
NM_000249.4(MLH1):c.236G>A (p.Arg79Lys)
|
rs1553640212
|
|
NM_000249.4(MLH1):c.236G>C (p.Arg79Thr)
|
rs1553640212
|
|
NM_000249.4(MLH1):c.239T>A (p.Phe80Tyr)
|
rs753404814
|
|
NM_000249.4(MLH1):c.241A>G (p.Thr81Ala)
|
rs786203745
|
|
NM_000249.4(MLH1):c.241A>T (p.Thr81Ser)
|
rs786203745
|
|
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)
|
rs63751069
|
|
NM_000249.4(MLH1):c.247A>G (p.Ser83Gly)
|
rs2081468492
|
|
NM_000249.4(MLH1):c.248G>A (p.Ser83Asn)
|
rs587778999
|
|
NM_000249.4(MLH1):c.24T>G (p.Ile8Met)
|
rs748406142
|
|
NM_000249.4(MLH1):c.256C>G (p.Gln86Glu)
|
rs63751421
|
|
NM_000249.4(MLH1):c.257A>G (p.Gln86Arg)
|
rs2081469629
|
|
NM_000249.4(MLH1):c.25C>G (p.Arg9Gly)
|
rs587779000
|
|
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)
|
rs587779000
|
|
NM_000249.4(MLH1):c.260C>G (p.Ser87Cys)
|
rs2081469787
|
|
NM_000249.4(MLH1):c.260C>T (p.Ser87Phe)
|
|
|
NM_000249.4(MLH1):c.265G>A (p.Glu89Lys)
|
rs11541859
|
|
NM_000249.4(MLH1):c.268G>A (p.Asp90Asn)
|
|
|
NM_000249.4(MLH1):c.269A>G (p.Asp90Gly)
|
rs2081471668
|
|
NM_000249.4(MLH1):c.26_27delinsAT (p.Arg9His)
|
rs2125693660
|
|
NM_000249.4(MLH1):c.274G>A (p.Ala92Thr)
|
|
|
NM_000249.4(MLH1):c.278G>A (p.Ser93Asn)
|
rs1553640288
|
|
NM_000249.4(MLH1):c.282T>G (p.Ile94Met)
|
|
|
NM_000249.4(MLH1):c.287C>A (p.Thr96Asn)
|
rs926905165
|
|
NM_000249.4(MLH1):c.287C>T (p.Thr96Ile)
|
rs926905165
|
|
NM_000249.4(MLH1):c.288C>G (p.Thr96=)
|
rs2125736723
|
|
NM_000249.4(MLH1):c.289T>G (p.Tyr97Asp)
|
rs1553640297
|
|
NM_000249.4(MLH1):c.28C>G (p.Arg10Gly)
|
rs1193754562
|
|
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)
|
rs1193754562
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe)
|
rs1553640314
|
|
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp)
|
rs863225382
|
|
NM_000249.4(MLH1):c.296T>G (p.Phe99Cys)
|
rs2081475505
|
|
NM_000249.4(MLH1):c.298C>G (p.Arg100Gly)
|
|
|
NM_000249.4(MLH1):c.299G>T (p.Arg100Leu)
|
rs63750266
|
|
NM_000249.4(MLH1):c.306+4A>T
|
|
|
NM_000249.4(MLH1):c.306+6C>T
|
rs746641892
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307G>A (p.Ala103Thr)
|
rs587779003
|
|
NM_000249.4(MLH1):c.307G>C (p.Ala103Pro)
|
rs587779003
|
|
NM_000249.4(MLH1):c.308C>T (p.Ala103Val)
|
rs2125756545
|
|
NM_000249.4(MLH1):c.311T>C (p.Leu104Ser)
|
rs63751397
|
|
NM_000249.4(MLH1):c.312G>A (p.Leu104=)
|
rs2081707741
|
|
NM_000249.4(MLH1):c.313G>A (p.Ala105Thr)
|
|
|
NM_000249.4(MLH1):c.313G>T (p.Ala105Ser)
|
|
|
NM_000249.4(MLH1):c.314C>A (p.Ala105Asp)
|
rs867655979
|
|
NM_000249.4(MLH1):c.314C>T (p.Ala105Val)
|
rs867655979
|
|
NM_000249.4(MLH1):c.316A>G (p.Ser106Gly)
|
rs1553641257
|
|
NM_000249.4(MLH1):c.317G>T (p.Ser106Ile)
|
rs368208495
|
|
NM_000249.4(MLH1):c.318C>G (p.Ser106Arg)
|
rs63750297
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
NM_000249.4(MLH1):c.31C>G (p.Leu11Val)
|
rs864622596
|
|
NM_000249.4(MLH1):c.323G>A (p.Ser108Asn)
|
rs1553641270
|
|
NM_000249.4(MLH1):c.326A>C (p.His109Pro)
|
rs587779004
|
|
NM_000249.4(MLH1):c.326A>G (p.His109Arg)
|
rs587779004
|
|
NM_000249.4(MLH1):c.328G>A (p.Val110Met)
|
|
|
NM_000249.4(MLH1):c.328G>C (p.Val110Leu)
|
|
|
NM_000249.4(MLH1):c.329T>G (p.Val110Gly)
|
rs1559517201
|
|
NM_000249.4(MLH1):c.32T>C (p.Leu11Pro)
|
rs1575375926
|
|
NM_000249.4(MLH1):c.32T>G (p.Leu11Arg)
|
rs1575375926
|
|
NM_000249.4(MLH1):c.334C>G (p.His112Asp)
|
rs1559517227
|
|
NM_000249.4(MLH1):c.338T>A (p.Val113Asp)
|
rs63750559
|
|
NM_000249.4(MLH1):c.340A>G (p.Thr114Ala)
|
rs1553641301
|
|
NM_000249.4(MLH1):c.341C>T (p.Thr114Ile)
|
rs2125757062
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
NM_000249.4(MLH1):c.347C>T (p.Thr116Ile)
|
rs63750465
|
|
NM_000249.4(MLH1):c.349A>G (p.Thr117Ala)
|
rs965720330
|
|
NM_000249.4(MLH1):c.352A>C (p.Lys118Gln)
|
|
|
NM_000249.4(MLH1):c.359C>T (p.Ala120Val)
|
rs267607740
|
|
NM_000249.4(MLH1):c.35A>G (p.Asp12Gly)
|
rs1553637200
|
|
NM_000249.4(MLH1):c.361G>C (p.Asp121His)
|
|
|
NM_000249.4(MLH1):c.362A>G (p.Asp121Gly)
|
rs730881735
|
|
NM_000249.4(MLH1):c.362A>T (p.Asp121Val)
|
rs730881735
|
|
NM_000249.4(MLH1):c.364G>A (p.Gly122Arg)
|
|
|
NM_000249.4(MLH1):c.366A>T (p.Gly122=)
|
rs1553641343
|
|
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu)
|
rs587782181
|
|
NM_000249.4(MLH1):c.371G>C (p.Cys124Ser)
|
rs730881736
|
|
NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)
|
|
|
NM_000249.4(MLH1):c.374C>T (p.Ala125Val)
|
rs1553641362
|
|
NM_000249.4(MLH1):c.376T>C (p.Tyr126His)
|
|
|
NM_000249.4(MLH1):c.379A>G (p.Arg127Gly)
|
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)
|
rs587779008
|
|
NM_000249.4(MLH1):c.380+3A>T
|
rs876661114
|
|
NM_000249.4(MLH1):c.380+4_380+5del
|
rs2081722551
|
|
NM_000249.4(MLH1):c.380+6G>T
|
rs1185917556
|
|
NM_000249.4(MLH1):c.382G>A (p.Ala128Thr)
|
rs63750866
|
|
NM_000249.4(MLH1):c.382G>T (p.Ala128Ser)
|
rs63750866
|
|
NM_000249.4(MLH1):c.383C>G (p.Ala128Gly)
|
rs1064796093
|
|
NM_000249.4(MLH1):c.385A>C (p.Ser129Arg)
|
rs1333790237
|
|
NM_000249.4(MLH1):c.38A>G (p.Glu13Gly)
|
rs1575376099
|
|
NM_000249.4(MLH1):c.392C>T (p.Ser131Leu)
|
rs63749818
|
|
NM_000249.4(MLH1):c.395A>G (p.Asp132Gly)
|
rs1553642067
|
|
NM_000249.4(MLH1):c.399A>T (p.Gly133=)
|
rs1559521083
|
|
NM_000249.4(MLH1):c.400A>G (p.Lys134Glu)
|
rs1060500710
|
|
NM_000249.4(MLH1):c.401A>G (p.Lys134Arg)
|
rs2081924052
|
|
NM_000249.4(MLH1):c.401A>T (p.Lys134Ile)
|
|
|
NM_000249.4(MLH1):c.404T>C (p.Leu135Pro)
|
rs753233578
|
|
NM_000249.4(MLH1):c.406A>G (p.Lys136Glu)
|
rs1575440595
|
|
NM_000249.4(MLH1):c.407A>G (p.Lys136Arg)
|
|
|
NM_000249.4(MLH1):c.40A>G (p.Thr14Ala)
|
rs2125693873
|
|
NM_000249.4(MLH1):c.410C>G (p.Ala137Gly)
|
|
|
NM_000249.4(MLH1):c.410C>T (p.Ala137Val)
|
rs63750817
|
|
NM_000249.4(MLH1):c.413C>G (p.Pro138Arg)
|
rs1178996479
|
|
NM_000249.4(MLH1):c.413C>T (p.Pro138Leu)
|
rs1178996479
|
|
NM_000249.4(MLH1):c.415C>A (p.Pro139Thr)
|
rs779562531
|
|
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)
|
rs779562531
|
|
NM_000249.4(MLH1):c.416C>T (p.Pro139Leu)
|
|
|
NM_000249.4(MLH1):c.41C>T (p.Thr14Ile)
|
rs774363593
|
|
NM_000249.4(MLH1):c.421C>A (p.Pro141Thr)
|
rs63750977
|
|
NM_000249.4(MLH1):c.421C>T (p.Pro141Ser)
|
rs63750977
|
|
NM_000249.4(MLH1):c.422C>G (p.Pro141Arg)
|
rs746419577
|
|
NM_000249.4(MLH1):c.422C>T (p.Pro141Leu)
|
rs746419577
|
|
NM_000249.4(MLH1):c.424T>A (p.Cys142Ser)
|
rs780232692
|
|
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg)
|
rs780232692
|
|
NM_000249.4(MLH1):c.425G>C (p.Cys142Ser)
|
rs1553642098
|
|
NM_000249.4(MLH1):c.425G>T (p.Cys142Phe)
|
rs1553642098
|
|
NM_000249.4(MLH1):c.427G>T (p.Ala143Ser)
|
rs876659668
|
|
NM_000249.4(MLH1):c.428C>T (p.Ala143Val)
|
rs1553642106
|
|
NM_000249.4(MLH1):c.429T>A (p.Ala143=)
|
rs2081928474
|
|
NM_000249.4(MLH1):c.430G>A (p.Gly144Ser)
|
|
|
NM_000249.4(MLH1):c.430G>T (p.Gly144Cys)
|
|
|
NM_000249.4(MLH1):c.431G>A (p.Gly144Asp)
|
rs2081928693
|
|
NM_000249.4(MLH1):c.432C>T (p.Gly144=)
|
rs1553642108
|
|
NM_000249.4(MLH1):c.433A>G (p.Asn145Asp)
|
|
|
NM_000249.4(MLH1):c.434A>G (p.Asn145Ser)
|
rs1553642117
|
|
NM_000249.4(MLH1):c.437A>G (p.Gln146Arg)
|
rs1559521320
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.43G>A (p.Val15Met)
|
rs876660301
|
|
NM_000249.4(MLH1):c.43G>C (p.Val15Leu)
|
rs876660301
|
|
NM_000249.4(MLH1):c.43G>T (p.Val15Leu)
|
rs876660301
|
|
NM_000249.4(MLH1):c.440G>C (p.Gly147Ala)
|
rs1060500702
|
|
NM_000249.4(MLH1):c.440G>T (p.Gly147Val)
|
rs1060500702
|
|
NM_000249.4(MLH1):c.447G>C (p.Gln149His)
|
rs63750638
|
|
NM_000249.4(MLH1):c.447G>T (p.Gln149His)
|
|
|
NM_000249.4(MLH1):c.449T>A (p.Ile150Asn)
|
rs786202495
|
|
NM_000249.4(MLH1):c.44T>G (p.Val15Gly)
|
|
|
NM_000249.4(MLH1):c.453+4A>C
|
|
|
NM_000249.4(MLH1):c.453+4del
|
rs2125773670
|
|
NM_000249.4(MLH1):c.453+6A>C
|
rs2081932913
|
|
NM_000249.4(MLH1):c.453G>T (p.Thr151=)
|
rs369521379
|
|
NM_000249.4(MLH1):c.454-10T>A
|
rs1260098414
|
|
NM_000249.4(MLH1):c.454-17A>G
|
|
|
NM_000249.4(MLH1):c.454-3C>G
|
rs2082047640
|
|
NM_000249.4(MLH1):c.454-3del
|
rs1224826378
|
|
NM_000249.4(MLH1):c.455T>G (p.Val152Gly)
|
rs1559523949
|
|
NM_000249.4(MLH1):c.460G>A (p.Asp154Asn)
|
rs2082049200
|
|
NM_000249.4(MLH1):c.462C>A (p.Asp154Glu)
|
rs192938577
|
|
NM_000249.4(MLH1):c.462C>G (p.Asp154Glu)
|
rs192938577
|
|
NM_000249.4(MLH1):c.463C>G (p.Leu155Val)
|
rs749370894
|
|
NM_000249.4(MLH1):c.463C>T (p.Leu155Phe)
|
rs749370894
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
NM_000249.4(MLH1):c.467T>C (p.Phe156Ser)
|
|
|
NM_000249.4(MLH1):c.468T>A (p.Phe156Leu)
|
rs1575448523
|
|
NM_000249.4(MLH1):c.469T>C (p.Tyr157His)
|
rs2125783672
|
|
NM_000249.4(MLH1):c.46G>A (p.Val16Met)
|
rs776643257
|
|
NM_000249.4(MLH1):c.46G>C (p.Val16Leu)
|
rs776643257
|
|
NM_000249.4(MLH1):c.472A>C (p.Asn158His)
|
rs63751242
|
|
NM_000249.4(MLH1):c.473A>G (p.Asn158Ser)
|
|
|
NM_000249.4(MLH1):c.475A>G (p.Ile159Val)
|
rs370900909
|
|
NM_000249.4(MLH1):c.478G>T (p.Ala160Ser)
|
rs876659332
|
|
NM_000249.4(MLH1):c.479C>G (p.Ala160Gly)
|
rs63749924
|
|
NM_000249.4(MLH1):c.47T>G (p.Val16Gly)
|
rs1553637237
|
|
NM_000249.4(MLH1):c.481A>G (p.Thr161Ala)
|
rs1575448656
|
|
NM_000249.4(MLH1):c.483GAG[1] (p.Arg163del)
|
rs587781788
|
|
NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)
|
|
|
NM_000249.4(MLH1):c.487A>G (p.Arg163Gly)
|
rs748500860
|
|
NM_000249.4(MLH1):c.494C>T (p.Ala165Val)
|
rs2082054666
|
|
NM_000249.4(MLH1):c.497T>C (p.Leu166Ser)
|
rs267607755
|
|
NM_000249.4(MLH1):c.500A>G (p.Lys167Arg)
|
rs1575448893
|
|
NM_000249.4(MLH1):c.503A>T (p.Asn168Ile)
|
rs1553642727
|
|
NM_000249.4(MLH1):c.506C>A (p.Pro169Gln)
|
rs63750834
|
|
NM_000249.4(MLH1):c.506C>G (p.Pro169Arg)
|
rs63750834
|
|
NM_000249.4(MLH1):c.508A>G (p.Ser170Gly)
|
rs1287294691
|
|
NM_000249.4(MLH1):c.509G>A (p.Ser170Asn)
|
rs1064793652
|
|
NM_000249.4(MLH1):c.509G>C (p.Ser170Thr)
|
rs1064793652
|
|
NM_000249.4(MLH1):c.50A>G (p.Asn17Ser)
|
rs1403203490
|
|
NM_000249.4(MLH1):c.511G>A (p.Glu171Lys)
|
|
|
NM_000249.4(MLH1):c.513A>C (p.Glu171Asp)
|
rs779148982
|
|
NM_000249.4(MLH1):c.515_520del (p.Glu172_Tyr173del)
|
rs1575449031
|
|
NM_000249.4(MLH1):c.517T>C (p.Tyr173His)
|
rs2125784498
|
|
NM_000249.4(MLH1):c.520G>T (p.Gly174Trp)
|
rs1391774700
|
|
NM_000249.4(MLH1):c.523A>G (p.Lys175Glu)
|
|
|
NM_000249.4(MLH1):c.524A>T (p.Lys175Ile)
|
rs1553642756
|
|
NM_000249.4(MLH1):c.526A>T (p.Ile176Phe)
|
rs1553642761
|
|
NM_000249.4(MLH1):c.52C>G (p.Arg18Gly)
|
rs367654552
|
|
NM_000249.4(MLH1):c.531G>T (p.Leu177Phe)
|
rs1386646525
|
|
NM_000249.4(MLH1):c.532G>A (p.Glu178Lys)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.538G>C (p.Val180Leu)
|
|
|
NM_000249.4(MLH1):c.538G>T (p.Val180Phe)
|
rs1559524603
|
|
NM_000249.4(MLH1):c.539T>C (p.Val180Ala)
|
rs63750102
|
|
NM_000249.4(MLH1):c.53G>A (p.Arg18His)
|
rs1553637254
|
|
NM_000249.4(MLH1):c.542G>A (p.Gly181Asp)
|
rs2082061484
|
|
NM_000249.4(MLH1):c.545+4C>A
|
rs755275241
|
|
NM_000249.4(MLH1):c.545+4C>G
|
rs755275241
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
NM_000249.4(MLH1):c.545+5A>G
|
rs1553642796
|
|
NM_000249.4(MLH1):c.545+6G>T
|
rs1249025957
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)
|
rs587779021
|
|
NM_000249.4(MLH1):c.546-16T>A
|
rs2125805002
|
|
NM_000249.4(MLH1):c.546-5del
|
rs1553643965
|
|
NM_000249.4(MLH1):c.546G>C (p.Arg182Ser)
|
rs2125805259
|
|
NM_000249.4(MLH1):c.547T>C (p.Tyr183His)
|
|
|
NM_000249.4(MLH1):c.548A>G (p.Tyr183Cys)
|
rs1553643970
|
|
NM_000249.4(MLH1):c.551C>T (p.Ser184Leu)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)
|
rs63750012
|
|
NM_000249.4(MLH1):c.554T>C (p.Val185Ala)
|
rs63750515
|
|
NM_000249.4(MLH1):c.556C>A (p.His186Asn)
|
rs1559529806
|
|
NM_000249.4(MLH1):c.556C>T (p.His186Tyr)
|
rs1559529806
|
|
NM_000249.4(MLH1):c.557A>C (p.His186Pro)
|
rs1060500712
|
|
NM_000249.4(MLH1):c.557A>G (p.His186Arg)
|
rs1060500712
|
|
NM_000249.4(MLH1):c.558C>G (p.His186Gln)
|
|
|
NM_000249.4(MLH1):c.559A>G (p.Asn187Asp)
|
rs2082327356
|
|
NM_000249.4(MLH1):c.55A>C (p.Ile19Leu)
|
rs63750648
|
|
NM_000249.4(MLH1):c.560A>G (p.Asn187Ser)
|
rs1553643993
|
|
NM_000249.4(MLH1):c.562G>A (p.Ala188Thr)
|
|
|
NM_000249.4(MLH1):c.565G>C (p.Gly189Arg)
|
|
|
NM_000249.4(MLH1):c.566G>A (p.Gly189Asp)
|
|
|
NM_000249.4(MLH1):c.566G>C (p.Gly189Ala)
|
rs1553644020
|
|
NM_000249.4(MLH1):c.569_571del (p.Ile190del)
|
rs2082328702
|
|
NM_000249.4(MLH1):c.578C>T (p.Ser193Leu)
|
rs63751480
|
|
NM_000249.4(MLH1):c.580G>A (p.Val194Ile)
|
rs1485929020
|
|
NM_000249.4(MLH1):c.583A>G (p.Lys195Glu)
|
rs863225383
|
|
NM_000249.4(MLH1):c.584A>G (p.Lys195Arg)
|
|
|
NM_000249.4(MLH1):c.588+4A>G
|
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+9_588+10insLINE1
|
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
NM_000249.4(MLH1):c.58G>C (p.Ala20Pro)
|
rs1553637262
|
|
NM_000249.4(MLH1):c.591A>G (p.Gln197=)
|
rs876659294
|
|
NM_000249.4(MLH1):c.591A>T (p.Gln197His)
|
|
|
NM_000249.4(MLH1):c.595G>A (p.Glu199Lys)
|
|
|
NM_000249.4(MLH1):c.598A>C (p.Thr200Pro)
|
|
|
NM_000249.4(MLH1):c.598A>G (p.Thr200Ala)
|
rs2082345042
|
|
NM_000249.4(MLH1):c.59C>T (p.Ala20Val)
|
rs1391455682
|
|
NM_000249.4(MLH1):c.5_7del (p.Ser2del)
|
rs1559499994
|
|
NM_000249.4(MLH1):c.602T>C (p.Val201Ala)
|
rs876659274
|
|
NM_000249.4(MLH1):c.607G>C (p.Asp203His)
|
rs63750085
|
|
NM_000249.4(MLH1):c.607G>T (p.Asp203Tyr)
|
rs63750085
|
|
NM_000249.4(MLH1):c.608A>T (p.Asp203Val)
|
rs749037674
|
|
NM_000249.4(MLH1):c.60G>A (p.Ala20=)
|
rs2080897097
|
|
NM_000249.4(MLH1):c.614G>A (p.Arg205Lys)
|
|
|
NM_000249.4(MLH1):c.614G>C (p.Arg205Thr)
|
rs1559530587
|
|
NM_000249.4(MLH1):c.614G>T (p.Arg205Met)
|
rs1559530587
|
|
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile)
|
rs2082346831
|
|
NM_000249.4(MLH1):c.620T>C (p.Leu207Pro)
|
rs2125808605
|
|
NM_000249.4(MLH1):c.623C>A (p.Pro208His)
|
|
|
NM_000249.4(MLH1):c.623C>T (p.Pro208Leu)
|
rs876659114
|
|
NM_000249.4(MLH1):c.625A>G (p.Asn209Asp)
|
|
|
NM_000249.4(MLH1):c.626A>C (p.Asn209Thr)
|
rs150478207
|
|
NM_000249.4(MLH1):c.628G>C (p.Ala210Pro)
|
rs1559530676
|
|
NM_000249.4(MLH1):c.629C>A (p.Ala210Asp)
|
rs2125808775
|
|
NM_000249.4(MLH1):c.632C>T (p.Ser211Leu)
|
rs2082348062
|
|
NM_000249.4(MLH1):c.635C>T (p.Thr212Ile)
|
|
|
NM_000249.4(MLH1):c.637G>C (p.Val213Leu)
|
rs2308317
|
|
NM_000249.4(MLH1):c.637G>T (p.Val213Leu)
|
rs2308317
|
|
NM_000249.4(MLH1):c.643A>G (p.Asn215Asp)
|
rs2125809069
|
|
NM_000249.4(MLH1):c.644A>C (p.Asn215Thr)
|
rs267607775
|
|
NM_000249.4(MLH1):c.646A>G (p.Ile216Val)
|
rs1575469180
|
|
NM_000249.4(MLH1):c.647T>C (p.Ile216Thr)
|
|
|
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)
|
rs4986984
|
|
NM_000249.4(MLH1):c.64G>C (p.Gly22Arg)
|
|
|
NM_000249.4(MLH1):c.653C>G (p.Ser218Cys)
|
rs2082350729
|
|
NM_000249.4(MLH1):c.653C>T (p.Ser218Phe)
|
rs2082350729
|
|
NM_000249.4(MLH1):c.656T>C (p.Ile219Thr)
|
rs1553644227
|
|
NM_000249.4(MLH1):c.657_662del (p.Phe220_Gly221del)
|
rs2082351590
|
|
NM_000249.4(MLH1):c.65G>A (p.Gly22Glu)
|
|
|
NM_000249.4(MLH1):c.65G>T (p.Gly22Val)
|
rs41295280
|
|
NM_000249.4(MLH1):c.662G>A (p.Gly221Glu)
|
|
|
NM_000249.4(MLH1):c.668C>G (p.Ala223Gly)
|
rs756045117
|
|
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)
|
rs1553644251
|
|
NM_000249.4(MLH1):c.670G>C (p.Val224Leu)
|
rs1553644251
|
|
NM_000249.4(MLH1):c.673A>G (p.Ser225Gly)
|
rs587781926
|
|
NM_000249.4(MLH1):c.675T>G (p.Ser225Arg)
|
|
|
NM_000249.4(MLH1):c.676C>A (p.Arg226=)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+6T>C
|
|
|
NM_000249.4(MLH1):c.678-10_678-6del
|
rs1060500700
|
|
NM_000249.4(MLH1):c.678-13del
|
rs1553645092
|
|
NM_000249.4(MLH1):c.678-3T>C
|
rs267607785
|
|
NM_000249.4(MLH1):c.678-409A>G
|
|
|
NM_000249.4(MLH1):c.678-7C>A
|
|
|
NM_000249.4(MLH1):c.678-9_678-8del
|
rs1559534072
|
|
NM_000249.4(MLH1):c.678A>T (p.Arg226=)
|
rs786203360
|
|
NM_000249.4(MLH1):c.67G>A (p.Glu23Lys)
|
rs63750823
|
|
NM_000249.4(MLH1):c.680A>T (p.Glu227Val)
|
|
|
NM_000249.4(MLH1):c.683T>G (p.Leu228Arg)
|
rs2125821739
|
|
NM_000249.4(MLH1):c.685A>C (p.Ile229Leu)
|
|
|
NM_000249.4(MLH1):c.685A>G (p.Ile229Val)
|
|
|
NM_000249.4(MLH1):c.686T>C (p.Ile229Thr)
|
rs1559534151
|
|
NM_000249.4(MLH1):c.689A>G (p.Glu230Gly)
|
rs2082522661
|
|
NM_000249.4(MLH1):c.68A>G (p.Glu23Gly)
|
rs750969880
|
|
NM_000249.4(MLH1):c.691A>G (p.Ile231Val)
|
|
|
NM_000249.4(MLH1):c.691A>T (p.Ile231Phe)
|
|
|
NM_000249.4(MLH1):c.692T>C (p.Ile231Thr)
|
|
|
NM_000249.4(MLH1):c.693T>G (p.Ile231Met)
|
|
|
NM_000249.4(MLH1):c.695G>A (p.Gly232Glu)
|
rs149302013
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
NM_000249.4(MLH1):c.697T>A (p.Cys233Ser)
|
rs63751170
|
|
NM_000249.4(MLH1):c.697T>C (p.Cys233Arg)
|
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.700G>A (p.Glu234Lys)
|
rs876659468
|
|
NM_000249.4(MLH1):c.700_701delinsTT (p.Glu234Leu)
|
rs730881732
|
|
NM_000249.4(MLH1):c.701A>C (p.Glu234Ala)
|
rs63750696
|
|
NM_000249.4(MLH1):c.704A>G (p.Asp235Gly)
|
|
|
NM_000249.4(MLH1):c.705T>G (p.Asp235Glu)
|
|
|
NM_000249.4(MLH1):c.706A>G (p.Lys236Glu)
|
rs1553645179
|
|
NM_000249.4(MLH1):c.708A>T (p.Lys236Asn)
|
|
|
NM_000249.4(MLH1):c.70G>A (p.Val24Ile)
|
rs1348994712
|
|
NM_000249.4(MLH1):c.70G>T (p.Val24Phe)
|
rs1348994712
|
|
NM_000249.4(MLH1):c.710C>T (p.Thr237Ile)
|
rs771606168
|
|
NM_000249.4(MLH1):c.713T>G (p.Leu238Arg)
|
rs2125822150
|
|
NM_000249.4(MLH1):c.71T>C (p.Val24Ala)
|
rs754533438
|
|
NM_000249.4(MLH1):c.722A>C (p.Lys241Thr)
|
rs778528329
|
|
NM_000249.4(MLH1):c.722A>G (p.Lys241Arg)
|
rs778528329
|
|
NM_000249.4(MLH1):c.726G>A (p.Met242Ile)
|
rs1559534445
|
|
NM_000249.4(MLH1):c.728A>G (p.Asn243Ser)
|
rs1199917094
|
|
NM_000249.4(MLH1):c.728A>T (p.Asn243Ile)
|
|
|
NM_000249.4(MLH1):c.730G>A (p.Gly244Ser)
|
rs2082528605
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.736A>T (p.Ile246Leu)
|
rs750253749
|
|
NM_000249.4(MLH1):c.73A>G (p.Ile25Val)
|
rs63749838
|
|
NM_000249.4(MLH1):c.740C>A (p.Ser247Tyr)
|
rs2125822516
|
|
NM_000249.4(MLH1):c.740C>G (p.Ser247Cys)
|
|
|
NM_000249.4(MLH1):c.742A>G (p.Asn248Asp)
|
rs2082530238
|
|
NM_000249.4(MLH1):c.745G>C (p.Ala249Pro)
|
rs876658137
|
|
NM_000249.4(MLH1):c.748A>C (p.Asn250His)
|
rs786203107
|
|
NM_000249.4(MLH1):c.748A>G (p.Asn250Asp)
|
rs786203107
|
|
NM_000249.4(MLH1):c.74T>C (p.Ile25Thr)
|
rs63750514
|
|
NM_000249.4(MLH1):c.74T>G (p.Ile25Ser)
|
|
|
NM_000249.4(MLH1):c.751T>C (p.Tyr251His)
|
|
|
NM_000249.4(MLH1):c.752A>G (p.Tyr251Cys)
|
rs876660220
|
|
NM_000249.4(MLH1):c.755C>T (p.Ser252Leu)
|
rs63750198
|
|
NM_000249.4(MLH1):c.758T>C (p.Val253Ala)
|
rs2125822888
|
|
NM_000249.4(MLH1):c.760A>C (p.Lys254Gln)
|
rs1575481094
|
|
NM_000249.4(MLH1):c.761A>G (p.Lys254Arg)
|
rs786202528
|
|
NM_000249.4(MLH1):c.762G>T (p.Lys254Asn)
|
rs863224341
|
|
NM_000249.4(MLH1):c.763A>C (p.Lys255Gln)
|
rs1559534696
|
|
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr)
|
rs876659662
|
|
NM_000249.4(MLH1):c.767G>T (p.Cys256Phe)
|
rs876659662
|
|
NM_000249.4(MLH1):c.769A>G (p.Ile257Val)
|
rs876660094
|
|
NM_000249.4(MLH1):c.76C>A (p.Gln26Lys)
|
|
|
NM_000249.4(MLH1):c.771C>G (p.Ile257Met)
|
rs1466012753
|
|
NM_000249.4(MLH1):c.774C>A (p.Phe258Leu)
|
|
|
NM_000249.4(MLH1):c.777A>C (p.Leu259Phe)
|
rs1575481336
|
|
NM_000249.4(MLH1):c.779T>A (p.Leu260His)
|
rs63751283
|
|
NM_000249.4(MLH1):c.77A>C (p.Gln26Pro)
|
rs1553637312
|
|
NM_000249.4(MLH1):c.77A>G (p.Gln26Arg)
|
rs1553637312
|
|
NM_000249.4(MLH1):c.781T>A (p.Phe261Ile)
|
|
|
NM_000249.4(MLH1):c.783C>G (p.Phe261Leu)
|
rs768119795
|
|
NM_000249.4(MLH1):c.784A>G (p.Ile262Val)
|
rs1553645342
|
|
NM_000249.4(MLH1):c.789C>T (p.Asn263=)
|
|
|
NM_000249.4(MLH1):c.78G>C (p.Gln26His)
|
rs2080901714
|
|
NM_000249.4(MLH1):c.790+4A>T
|
rs267607786
|
|
NM_000249.4(MLH1):c.790C>G (p.His264Asp)
|
rs63751597
|
|
NM_000249.4(MLH1):c.791-3T>C
|
rs999701374
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
NM_000249.4(MLH1):c.794G>T (p.Arg265Leu)
|
|
|
NM_000249.4(MLH1):c.79C>G (p.Arg27Gly)
|
rs756398627
|
|
NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)
|
rs878853790
|
|
NM_000249.4(MLH1):c.802G>A (p.Glu268Lys)
|
|
|
NM_000249.4(MLH1):c.802G>C (p.Glu268Gln)
|
rs748423430
|
|
NM_000249.4(MLH1):c.805T>C (p.Ser269Pro)
|
rs786203623
|
|
NM_000249.4(MLH1):c.809C>A (p.Thr270Asn)
|
|
|
NM_000249.4(MLH1):c.809C>G (p.Thr270Ser)
|
|
|
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)
|
rs138705565
|
|
NM_000249.4(MLH1):c.812C>G (p.Ser271Cys)
|
|
|
NM_000249.4(MLH1):c.812C>T (p.Ser271Phe)
|
rs2125837002
|
|
NM_000249.4(MLH1):c.814T>G (p.Leu272Val)
|
rs63751252
|
|
NM_000249.4(MLH1):c.81G>A (p.Arg27=)
|
rs878853791
|
|
NM_000249.4(MLH1):c.824C>T (p.Ala275Val)
|
|
|
NM_000249.4(MLH1):c.827T>C (p.Ile276Thr)
|
rs1253275403
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
NM_000249.4(MLH1):c.833C>T (p.Thr278Ile)
|
rs2125837419
|
|
NM_000249.4(MLH1):c.835G>C (p.Val279Leu)
|
rs1559539382
|
|
NM_000249.4(MLH1):c.836T>C (p.Val279Ala)
|
rs1553646683
|
|
NM_000249.4(MLH1):c.836T>G (p.Val279Gly)
|
rs1553646683
|
|
NM_000249.4(MLH1):c.838T>C (p.Tyr280His)
|
rs587779044
|
|
NM_000249.4(MLH1):c.839A>T (p.Tyr280Phe)
|
rs1575495337
|
|
NM_000249.4(MLH1):c.840T>C (p.Tyr280=)
|
rs63750938
|
|
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)
|
rs774689817
|
|
NM_000249.4(MLH1):c.845C>A (p.Ala282Asp)
|
rs63750360
|
|
NM_000249.4(MLH1):c.847T>G (p.Tyr283Asp)
|
rs2082750776
|
|
NM_000249.4(MLH1):c.848A>C (p.Tyr283Ser)
|
rs201931669
|
|
NM_000249.4(MLH1):c.848A>T (p.Tyr283Phe)
|
rs201931669
|
|
NM_000249.4(MLH1):c.849T>C (p.Tyr283=)
|
|
|
NM_000249.4(MLH1):c.850T>G (p.Leu284Val)
|
rs1575495474
|
|
NM_000249.4(MLH1):c.852G>T (p.Leu284Phe)
|
rs2082751762
|
|
NM_000249.4(MLH1):c.853C>T (p.Pro285Ser)
|
rs772374195
|
|
NM_000249.4(MLH1):c.856A>C (p.Lys286Gln)
|
rs63750395
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000249.4(MLH1):c.860A>C (p.Asn287Thr)
|
|
|
NM_000249.4(MLH1):c.861C>G (p.Asn287Lys)
|
rs63750421
|
|
NM_000249.4(MLH1):c.862A>T (p.Thr288Ser)
|
|
|
NM_000249.4(MLH1):c.863C>G (p.Thr288Arg)
|
rs786203878
|
|
NM_000249.4(MLH1):c.864A>G (p.Thr288=)
|
rs1457205659
|
|
NM_000249.4(MLH1):c.865C>T (p.His289Tyr)
|
rs2082754902
|
|
NM_000249.4(MLH1):c.866A>G (p.His289Arg)
|
rs2125838100
|
|
NM_000249.4(MLH1):c.867C>A (p.His289Gln)
|
rs1559539682
|
|
NM_000249.4(MLH1):c.868C>G (p.Pro290Ala)
|
rs1553646744
|
|
NM_000249.4(MLH1):c.868C>T (p.Pro290Ser)
|
rs1553646744
|
|
NM_000249.4(MLH1):c.86C>A (p.Ala29Asp)
|
rs63750216
|
|
NM_000249.4(MLH1):c.871T>C (p.Phe291Leu)
|
rs1575495847
|
|
NM_000249.4(MLH1):c.882C>G (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.884+3A>C
|
rs267607803
|
|
NM_000249.4(MLH1):c.884+5T>C
|
rs1363855014
|
|
NM_000249.4(MLH1):c.884+6G>A
|
rs1575496158
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
NM_000249.4(MLH1):c.885-19_885-18delinsCT
|
rs1064795385
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000249.4(MLH1):c.885-6T>A
|
|
|
NM_000249.4(MLH1):c.892A>C (p.Ile298Leu)
|
|
|
NM_000249.4(MLH1):c.893T>C (p.Ile298Thr)
|
rs2082965349
|
|
NM_000249.4(MLH1):c.894C>G (p.Ile298Met)
|
rs1256712065
|
|
NM_000249.4(MLH1):c.895A>T (p.Ser299Cys)
|
rs876658827
|
|
NM_000249.4(MLH1):c.896G>A (p.Ser299Asn)
|
rs1553647926
|
|
NM_000249.4(MLH1):c.897T>G (p.Ser299Arg)
|
rs767068637
|
|
NM_000249.4(MLH1):c.899C>T (p.Pro300Leu)
|
|
|
NM_000249.4(MLH1):c.89A>G (p.Asn30Ser)
|
rs2080903905
|
|
NM_000249.4(MLH1):c.89A>T (p.Asn30Ile)
|
rs2080903905
|
|
NM_000249.4(MLH1):c.901C>G (p.Gln301Glu)
|
rs63750489
|
|
NM_000249.4(MLH1):c.905A>C (p.Asn302Thr)
|
rs2125852285
|
|
NM_000249.4(MLH1):c.907G>C (p.Val303Leu)
|
rs1553647950
|
|
NM_000249.4(MLH1):c.908T>G (p.Val303Gly)
|
rs267607813
|
|
NM_000249.4(MLH1):c.90T>A (p.Asn30Lys)
|
rs863224637
|
|
NM_000249.4(MLH1):c.90T>G (p.Asn30Lys)
|
rs863224637
|
|
NM_000249.4(MLH1):c.910G>A (p.Asp304Asn)
|
|
|
NM_000249.4(MLH1):c.911A>C (p.Asp304Ala)
|
rs63750993
|
|
NM_000249.4(MLH1):c.917A>T (p.Asn306Ile)
|
rs755553895
|
|
NM_000249.4(MLH1):c.919G>A (p.Val307Met)
|
rs786202196
|
|
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)
|
rs749671520
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.920T>C (p.Val307Ala)
|
rs863224638
|
|
NM_000249.4(MLH1):c.922C>T (p.His308Tyr)
|
|
|
NM_000249.4(MLH1):c.923A>G (p.His308Arg)
|
|
|
NM_000249.4(MLH1):c.929C>A (p.Thr310Lys)
|
rs746206527
|
|
NM_000249.4(MLH1):c.929C>G (p.Thr310Arg)
|
rs746206527
|
|
NM_000249.4(MLH1):c.92C>T (p.Ala31Val)
|
rs730882127
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000249.4(MLH1):c.933G>T (p.Lys311Asn)
|
rs876660775
|
|
NM_000249.4(MLH1):c.934C>T (p.His312Tyr)
|
rs2125852861
|
|
NM_000249.4(MLH1):c.935A>C (p.His312Pro)
|
rs1214358911
|
|
NM_000249.4(MLH1):c.936T>G (p.His312Gln)
|
rs2125852914
|
|
NM_000249.4(MLH1):c.940G>A (p.Val314Ile)
|
|
|
NM_000249.4(MLH1):c.941T>G (p.Val314Gly)
|
rs2082977512
|
|
NM_000249.4(MLH1):c.943C>G (p.His315Asp)
|
|
|
NM_000249.4(MLH1):c.946T>C (p.Phe316Leu)
|
|
|
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
|
rs1575509703
|
|
NM_000249.4(MLH1):c.953A>G (p.His318Arg)
|
rs1559543995
|
|
NM_000249.4(MLH1):c.954C>A (p.His318Gln)
|
rs146777069
|
|
NM_000249.4(MLH1):c.956A>C (p.Glu319Ala)
|
rs1553648037
|
|
NM_000249.4(MLH1):c.958G>A (p.Glu320Lys)
|
|
|
NM_000249.4(MLH1):c.958_959inv (p.Glu320Ser)
|
|
|
NM_000249.4(MLH1):c.95T>C (p.Ile32Thr)
|
|
|
NM_000249.4(MLH1):c.960G>C (p.Glu320Asp)
|
rs267607811
|
|
NM_000249.4(MLH1):c.961A>C (p.Ser321Arg)
|
rs2125853413
|
|
NM_000249.4(MLH1):c.962G>A (p.Ser321Asn)
|
rs63750286
|
|
NM_000249.4(MLH1):c.964A>C (p.Ile322Leu)
|
|
|
NM_000249.4(MLH1):c.965T>C (p.Ile322Thr)
|
rs1553648061
|
|
NM_000249.4(MLH1):c.96C>G (p.Ile32Met)
|
rs1553637356
|
|
NM_000249.4(MLH1):c.972_973delinsTT (p.Glu324_Arg325delinsAspTrp)
|
rs2082983732
|
|
NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)
|
|
|
NM_000249.4(MLH1):c.974G>C (p.Arg325Pro)
|
|
|
NM_000249.4(MLH1):c.976G>T (p.Val326Leu)
|
rs730881739
|
|
NM_000249.4(MLH1):c.977T>A (p.Val326Glu)
|
rs63751049
|
|
NM_000249.4(MLH1):c.97A>G (p.Lys33Glu)
|
rs878853795
|
|
NM_000249.4(MLH1):c.980A>C (p.Gln327Pro)
|
rs1444067163
|
|
NM_000249.4(MLH1):c.980A>G (p.Gln327Arg)
|
|
|
NM_000249.4(MLH1):c.983A>C (p.Gln328Pro)
|
rs2082986773
|
|
NM_000249.4(MLH1):c.984G>C (p.Gln328His)
|
rs1488438746
|
|
NM_000249.4(MLH1):c.985C>T (p.His329Tyr)
|
rs267607810
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
NM_000249.4(MLH1):c.986A>G (p.His329Arg)
|
rs63750710
|
|
NM_000249.4(MLH1):c.988A>G (p.Ile330Val)
|
rs878853796
|
|
NM_000249.4(MLH1):c.990C>G (p.Ile330Met)
|
|
|
NM_000249.4(MLH1):c.991G>C (p.Glu331Gln)
|
rs550914672
|
|
NM_000249.4(MLH1):c.996C>G (p.Ser332Arg)
|
rs775167683
|
|
NM_000249.4(MLH1):c.997A>G (p.Lys333Glu)
|
rs957510193
|
|
NM_000249.4(MLH1):c.999G>T (p.Lys333Asn)
|
|
|
NM_000251.2(MSH2):c.-125_1076+?dup1201
|
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
NM_000251.2(MSH2):c.-75delG
|
|
|
NM_000251.2(MSH2):c.-77G>A
|
rs1672218958
|
|
NM_000251.2(MSH2):c.-78T>C
|
rs876658616
|
|
NM_000251.2(MSH2):c.-79G>A
|
|
|
NM_000251.2(MSH2):c.-79G>C
|
|
|
NM_000251.2(MSH2):c.-81dup
|
rs587779187
|
|
NM_000251.2(MSH2):c.-82G>A
|
rs866991159
|
|
NM_000251.2(MSH2):c.212_214delGAG
|
rs775701983
|
|
NM_000251.3(MSH2):c.*47G>A
|
rs1196239075
|
|
NM_000251.3(MSH2):c.*4del (p.Ter935=)
|
rs1558526293
|
|
NM_000251.3(MSH2):c.*52A>T
|
rs886056138
|
|
NM_000251.3(MSH2):c.*64T>C
|
rs1278729941
|
|
NM_000251.3(MSH2):c.*7C>G
|
rs886056137
|
|
NM_000251.3(MSH2):c.-10A>C
|
rs765201464
|
|
NM_000251.3(MSH2):c.-11G>A
|
rs1057524512
|
|
NM_000251.3(MSH2):c.-11G>C
|
rs1057524512
|
|
NM_000251.3(MSH2):c.-12G>A
|
rs1558450937
|
|
NM_000251.3(MSH2):c.-13A>T
|
rs1057524722
|
|
NM_000251.3(MSH2):c.-13AGG[1]
|
rs1064795833
|
|
NM_000251.3(MSH2):c.-14G>A
|
rs1064793750
|
|
NM_000251.3(MSH2):c.-14G>C
|
rs1064793750
|
|
NM_000251.3(MSH2):c.-15T>C
|
|
|
NM_000251.3(MSH2):c.-16G>C
|
|
|
NM_000251.3(MSH2):c.-16G>T
|
rs1573422299
|
|
NM_000251.3(MSH2):c.-17G>A
|
rs1159862019
|
|
NM_000251.3(MSH2):c.-17G>C
|
rs1159862019
|
|
NM_000251.3(MSH2):c.-18A>C
|
rs759730085
|
|
NM_000251.3(MSH2):c.-18A>G
|
rs759730085
|
|
NM_000251.3(MSH2):c.-19G>A
|
|
|
NM_000251.3(MSH2):c.-19G>C
|
|
|
NM_000251.3(MSH2):c.-19G>T
|
|
|
NM_000251.3(MSH2):c.-1C>G
|
rs876658229
|
|
NM_000251.3(MSH2):c.-1C>T
|
rs876658229
|
|
NM_000251.3(MSH2):c.-20G>C
|
rs1672225649
|
|
NM_000251.3(MSH2):c.-21A>C
|
|
|
NM_000251.3(MSH2):c.-21A>T
|
rs776559145
|
|
NM_000251.3(MSH2):c.-22C>G
|
rs770870694
|
|
NM_000251.3(MSH2):c.-23C>A
|
|
|
NM_000251.3(MSH2):c.-23C>T
|
rs368949534
|
|
NM_000251.3(MSH2):c.-24A>G
|
|
|
NM_000251.3(MSH2):c.-25A>C
|
rs1672223820
|
|
NM_000251.3(MSH2):c.-26C>A
|
|
|
NM_000251.3(MSH2):c.-26C>T
|
|
|
NM_000251.3(MSH2):c.-27T>C
|
rs2103863683
|
|
NM_000251.3(MSH2):c.-27T>G
|
rs2103863683
|
|
NM_000251.3(MSH2):c.-29C>G
|
rs199841800
|
|
NM_000251.3(MSH2):c.-30T>A
|
|
|
NM_000251.3(MSH2):c.-4C>A
|
|
|
NM_000251.3(MSH2):c.-5T>G
|
rs1553348652
|
|
NM_000251.3(MSH2):c.-6T>A
|
|
|
NM_000251.3(MSH2):c.-6T>G
|
|
|
NM_000251.3(MSH2):c.-7T>A
|
rs1216867699
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
NM_000251.3(MSH2):c.1000A>C (p.Lys334Gln)
|
|
|
NM_000251.3(MSH2):c.1002A>C (p.Lys334Asn)
|
rs1673075031
|
|
NM_000251.3(MSH2):c.1004C>T (p.Thr335Ile)
|
rs63750602
|
|
NM_000251.3(MSH2):c.1006C>A (p.Pro336Thr)
|
rs63751062
|
|
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser)
|
rs63751062
|
|
NM_000251.3(MSH2):c.1007C>T (p.Pro336Leu)
|
rs2104248099
|
|
NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1010A>G (p.Gln337Arg)
|
rs1553353190
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1014A>T (p.Gly338=)
|
rs774083607
|
|
NM_000251.3(MSH2):c.1016A>C (p.Gln339Pro)
|
rs1060502006
|
|
NM_000251.3(MSH2):c.1016A>G (p.Gln339Arg)
|
|
|
NM_000251.3(MSH2):c.1018A>G (p.Arg340Gly)
|
rs1553353205
|
|
NM_000251.3(MSH2):c.1019G>C (p.Arg340Thr)
|
rs1673077413
|
|
NM_000251.3(MSH2):c.1020A>T (p.Arg340Ser)
|
rs1318583767
|
|
NM_000251.3(MSH2):c.1022T>G (p.Leu341Arg)
|
rs63751147
|
|
NM_000251.3(MSH2):c.1024G>A (p.Val342Ile)
|
rs63749879
|
|
NM_000251.3(MSH2):c.1024G>C (p.Val342Leu)
|
|
|
NM_000251.3(MSH2):c.1025T>C (p.Val342Ala)
|
|
|
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)
|
rs587779961
|
|
NM_000251.3(MSH2):c.1029C>A (p.Asn343Lys)
|
rs1060501995
|
|
NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys)
|
|
|
NM_000251.3(MSH2):c.1030C>A (p.Gln344Lys)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)
|
rs1673078633
|
|
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly)
|
rs1558466616
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1034_1045del (p.Trp345_Pro349delinsSer)
|
rs1553353226
|
|
NM_000251.3(MSH2):c.1035G>C (p.Trp345Cys)
|
|
|
NM_000251.3(MSH2):c.1035G>T (p.Trp345Cys)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1036A>G (p.Ile346Val)
|
rs1673079391
|
|
NM_000251.3(MSH2):c.1038_1049del (p.Lys347_Leu350del)
|
rs1673079599
|
|
NM_000251.3(MSH2):c.1041G>T (p.Lys347Asn)
|
rs1302487476
|
|
NM_000251.3(MSH2):c.1042C>G (p.Gln348Glu)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1044G>C (p.Gln348His)
|
|
|
NM_000251.3(MSH2):c.1044G>T (p.Gln348His)
|
|
|
NM_000251.3(MSH2):c.1048C>G (p.Leu350Val)
|
rs771126636
|
|
NM_000251.3(MSH2):c.104G>A (p.Arg35His)
|
rs1060502012
|
|
NM_000251.3(MSH2):c.1052T>C (p.Met351Thr)
|
rs1553353246
|
|
NM_000251.3(MSH2):c.1052T>G (p.Met351Arg)
|
rs1553353246
|
|
NM_000251.3(MSH2):c.1053G>C (p.Met351Ile)
|
rs373122667
|
|
NM_000251.3(MSH2):c.1053G>T (p.Met351Ile)
|
rs373122667
|
|
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn)
|
rs1465121242
|
|
NM_000251.3(MSH2):c.1057A>C (p.Lys353Gln)
|
rs2104252491
|
|
NM_000251.3(MSH2):c.1059_1061del (p.Lys353del)
|
|
|
NM_000251.3(MSH2):c.1060A>C (p.Asn354His)
|
|
|
NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)
|
rs2104252754
|
|
NM_000251.3(MSH2):c.1063A>G (p.Arg355Gly)
|
|
|
NM_000251.3(MSH2):c.1064G>C (p.Arg355Thr)
|
|
|
NM_000251.3(MSH2):c.1066A>G (p.Ile356Val)
|
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1068A>G (p.Ile356Met)
|
rs2104253312
|
|
NM_000251.3(MSH2):c.1069G>A (p.Glu357Lys)
|
rs587779069
|
|
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)
|
rs587779069
|
|
NM_000251.3(MSH2):c.106C>G (p.Leu36Val)
|
rs1553348786
|
|
NM_000251.3(MSH2):c.1070A>T (p.Glu357Val)
|
rs150503781
|
|
NM_000251.3(MSH2):c.1071G>A (p.Glu357=)
|
rs587781617
|
|
NM_000251.3(MSH2):c.1071G>C (p.Glu357Asp)
|
rs587781617
|
|
NM_000251.3(MSH2):c.1073A>C (p.Glu358Ala)
|
rs587781775
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
NM_000251.3(MSH2):c.1076+4T>A
|
rs764606343
|
|
NM_000251.3(MSH2):c.1076+6T>C
|
rs2104254660
|
|
NM_000251.3(MSH2):c.1076+8A>T
|
rs1673084214
|
|
NM_000251.3(MSH2):c.1076G>A (p.Arg359Lys)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1077-3C>A
|
rs758182607
|
|
NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)
|
rs587779072
|
|
NM_000251.3(MSH2):c.1084T>A (p.Leu362Ile)
|
|
|
NM_000251.3(MSH2):c.1085T>C (p.Leu362Ser)
|
rs1422479161
|
|
NM_000251.3(MSH2):c.1085_1086delinsAC (p.Leu362Tyr)
|
rs2104435645
|
|
NM_000251.3(MSH2):c.1087G>A (p.Val363Met)
|
rs377345366
|
|
NM_000251.3(MSH2):c.1090G>A (p.Glu364Lys)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1092A>C (p.Glu364Asp)
|
rs1573484215
|
|
NM_000251.3(MSH2):c.1093G>A (p.Ala365Thr)
|
|
|
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp)
|
rs1242235025
|
|
NM_000251.3(MSH2):c.1094C>G (p.Ala365Gly)
|
rs1242235025
|
|
NM_000251.3(MSH2):c.1094C>T (p.Ala365Val)
|
rs1242235025
|
|
NM_000251.3(MSH2):c.1096T>C (p.Phe366Leu)
|
rs2104436120
|
|
NM_000251.3(MSH2):c.1096T>G (p.Phe366Val)
|
|
|
NM_000251.3(MSH2):c.1097T>C (p.Phe366Ser)
|
rs1673930437
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
NM_000251.3(MSH2):c.1102G>A (p.Glu368Lys)
|
rs1673931379
|
|
NM_000251.3(MSH2):c.1103A>G (p.Glu368Gly)
|
rs1553356552
|
|
NM_000251.3(MSH2):c.1103A>T (p.Glu368Val)
|
rs1553356552
|
|
NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)
|
rs1573484275
|
|
NM_000251.3(MSH2):c.1109C>G (p.Ala370Gly)
|
rs139652783
|
|
NM_000251.3(MSH2):c.1109C>T (p.Ala370Val)
|
|
|
NM_000251.3(MSH2):c.1111G>A (p.Glu371Lys)
|
rs1060501994
|
|
NM_000251.3(MSH2):c.1111G>C (p.Glu371Gln)
|
rs1060501994
|
|
NM_000251.3(MSH2):c.1115T>C (p.Leu372Ser)
|
rs1573484336
|
|
NM_000251.3(MSH2):c.1115T>G (p.Leu372Trp)
|
rs1573484336
|
|
NM_000251.3(MSH2):c.1116G>T (p.Leu372Phe)
|
rs1673933288
|
|
NM_000251.3(MSH2):c.1118G>A (p.Arg373Lys)
|
rs864622254
|
|
NM_000251.3(MSH2):c.1119G>T (p.Arg373Ser)
|
rs1553356567
|
|
NM_000251.3(MSH2):c.1121A>C (p.Gln374Pro)
|
rs749660228
|
|
NM_000251.3(MSH2):c.1122G>T (p.Gln374His)
|
rs370378607
|
|
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser)
|
rs774539871
|
|
NM_000251.3(MSH2):c.112G>C (p.Asp38His)
|
|
|
NM_000251.3(MSH2):c.112G>T (p.Asp38Tyr)
|
rs730881761
|
|
NM_000251.3(MSH2):c.1131AGA[1] (p.Glu378del)
|
rs1295803849
|
|
NM_000251.3(MSH2):c.1132G>A (p.Glu378Lys)
|
rs2104437809
|
|
NM_000251.3(MSH2):c.1134A>T (p.Glu378Asp)
|
rs1673935850
|
|
NM_000251.3(MSH2):c.1138T>G (p.Leu380Val)
|
rs1558478310
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1141C>G (p.Leu381Val)
|
rs1573484556
|
|
NM_000251.3(MSH2):c.1141C>T (p.Leu381Phe)
|
rs1573484556
|
|
NM_000251.3(MSH2):c.1143TCG[1] (p.Arg383del)
|
rs1573484581
|
|
NM_000251.3(MSH2):c.1144C>A (p.Arg382Ser)
|
rs752373431
|
|
NM_000251.3(MSH2):c.1144C>G (p.Arg382Gly)
|
|
|
NM_000251.3(MSH2):c.1145G>T (p.Arg382Leu)
|
rs267607947
|
|
NM_000251.3(MSH2):c.1147C>G (p.Arg383Gly)
|
|
|
NM_000251.3(MSH2):c.1148G>C (p.Arg383Pro)
|
rs376934727
|
|
NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)
|
rs587779074
|
|
NM_000251.3(MSH2):c.1150T>C (p.Phe384Leu)
|
|
|
NM_000251.3(MSH2):c.1153C>T (p.Pro385Ser)
|
rs763985746
|
|
NM_000251.3(MSH2):c.1156G>C (p.Asp386His)
|
|
|
NM_000251.3(MSH2):c.1159C>A (p.Leu387Ile)
|
|
|
NM_000251.3(MSH2):c.1159C>G (p.Leu387Val)
|
rs751249745
|
|
NM_000251.3(MSH2):c.115C>T (p.Arg39Trp)
|
rs786202334
|
|
NM_000251.3(MSH2):c.115_123del (p.Arg39_Asp41del)
|
rs863224831
|
|
NM_000251.3(MSH2):c.1160T>C (p.Leu387Pro)
|
|
|
NM_000251.3(MSH2):c.1160T>G (p.Leu387Arg)
|
rs63750485
|
|
NM_000251.3(MSH2):c.1160_1162dup (p.Leu387_Asn388insIle)
|
|
|
NM_000251.3(MSH2):c.1162A>C (p.Asn388His)
|
rs2104439250
|
|
NM_000251.3(MSH2):c.1163A>G (p.Asn388Ser)
|
|
|
NM_000251.3(MSH2):c.1166G>T (p.Arg389Leu)
|
rs757276241
|
|
NM_000251.3(MSH2):c.1168C>G (p.Leu390Val)
|
rs17224367
|
|
NM_000251.3(MSH2):c.116G>A (p.Arg39Gln)
|
rs587782759
|
|
NM_000251.3(MSH2):c.116G>T (p.Arg39Leu)
|
rs587782759
|
|
NM_000251.3(MSH2):c.1171G>C (p.Ala391Pro)
|
rs878853798
|
|
NM_000251.3(MSH2):c.1172C>T (p.Ala391Val)
|
rs864622674
|
|
NM_000251.3(MSH2):c.1174A>C (p.Lys392Gln)
|
rs1673940784
|
|
NM_000251.3(MSH2):c.1177A>C (p.Lys393Gln)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1179G>C (p.Lys393Asn)
|
rs1553356646
|
|
NM_000251.3(MSH2):c.117_121del (p.Gly40fs)
|
|
|
NM_000251.3(MSH2):c.1183C>G (p.Gln395Glu)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1184A>T (p.Gln395Leu)
|
|
|
NM_000251.3(MSH2):c.1185A>C (p.Gln395His)
|
rs1032873228
|
|
NM_000251.3(MSH2):c.1186A>G (p.Arg396Gly)
|
|
|
NM_000251.3(MSH2):c.1190A>G (p.Gln397Arg)
|
rs1553356658
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)
|
rs988252817
|
|
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)
|
rs1060502019
|
|
NM_000251.3(MSH2):c.1195G>A (p.Ala399Thr)
|
rs1673943931
|
|
NM_000251.3(MSH2):c.1196C>A (p.Ala399Glu)
|
|
|
NM_000251.3(MSH2):c.1196C>G (p.Ala399Gly)
|
|
|
NM_000251.3(MSH2):c.119G>A (p.Gly40Asp)
|
rs876658719
|
|
NM_000251.3(MSH2):c.119G>T (p.Gly40Val)
|
rs876658719
|
|
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)
|
rs754562075
|
|
NM_000251.3(MSH2):c.11_12delinsCC (p.Gln4Pro)
|
rs1553348689
|
|
NM_000251.3(MSH2):c.1206A>C (p.Gln402His)
|
rs1553356673
|
|
NM_000251.3(MSH2):c.1206A>T (p.Gln402His)
|
rs1553356673
|
|
NM_000251.3(MSH2):c.1207G>A (p.Asp403Asn)
|
rs2104441234
|
|
NM_000251.3(MSH2):c.1207G>C (p.Asp403His)
|
rs2104441234
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
|
|
NM_000251.3(MSH2):c.1211G>T (p.Cys404Phe)
|
rs1553356682
|
|
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)
|
rs146567853
|
|
NM_000251.3(MSH2):c.1220T>A (p.Leu407His)
|
|
|
NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe)
|
rs63750379
|
|
NM_000251.3(MSH2):c.1225C>A (p.Gln409Lys)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_000251.3(MSH2):c.1227_1238del (p.Gly410_Gln413del)
|
rs1573485191
|
|
NM_000251.3(MSH2):c.1228G>T (p.Gly410Cys)
|
rs587782242
|
|
NM_000251.3(MSH2):c.1229G>A (p.Gly410Asp)
|
|
|
NM_000251.3(MSH2):c.1231A>G (p.Ile411Val)
|
rs764825558
|
|
NM_000251.3(MSH2):c.1233A>G (p.Ile411Met)
|
rs2104442383
|
|
NM_000251.3(MSH2):c.1235A>G (p.Asn412Ser)
|
rs1673948297
|
|
NM_000251.3(MSH2):c.1236T>A (p.Asn412Lys)
|
|
|
NM_000251.3(MSH2):c.1237C>A (p.Gln413Lys)
|
|
|
NM_000251.3(MSH2):c.1237C>G (p.Gln413Glu)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1240C>G (p.Leu414Val)
|
|
|
NM_000251.3(MSH2):c.1241T>G (p.Leu414Arg)
|
rs587779078
|
|
NM_000251.3(MSH2):c.1243C>G (p.Pro415Ala)
|
rs35717997
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
NM_000251.3(MSH2):c.1244C>T (p.Pro415Leu)
|
rs1463763476
|
|
NM_000251.3(MSH2):c.1246A>G (p.Asn416Asp)
|
rs1573485356
|
|
NM_000251.3(MSH2):c.1247A>C (p.Asn416Thr)
|
rs1386630417
|
|
NM_000251.3(MSH2):c.1247A>G (p.Asn416Ser)
|
rs1386630417
|
|
NM_000251.3(MSH2):c.1249G>A (p.Val417Ile)
|
rs1673949938
|
|
NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)
|
rs876659846
|
|
NM_000251.3(MSH2):c.1252A>G (p.Ile418Val)
|
rs763600083
|
|
NM_000251.3(MSH2):c.1259C>T (p.Ala420Val)
|
rs1673951633
|
|
NM_000251.3(MSH2):c.125T>A (p.Phe42Tyr)
|
rs1672243629
|
|
NM_000251.3(MSH2):c.1261C>G (p.Leu421Val)
|
rs63750228
|
|
NM_000251.3(MSH2):c.1262T>C (p.Leu421Pro)
|
rs587779080
|
|
NM_000251.3(MSH2):c.1264G>A (p.Glu422Lys)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1266_1268delinsGTT (p.Lys423Leu)
|
rs2104443846
|
|
NM_000251.3(MSH2):c.126C>A (p.Phe42Leu)
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
NM_000251.3(MSH2):c.1271A>G (p.His424Arg)
|
rs200429136
|
|
NM_000251.3(MSH2):c.1273G>A (p.Glu425Lys)
|
rs1064795063
|
|
NM_000251.3(MSH2):c.1276+5C>G
|
rs755284496
|
|
NM_000251.3(MSH2):c.1276+6A>G
|
rs2104444431
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1277-14C>G
|
rs267607951
|
|
NM_000251.3(MSH2):c.1279A>G (p.Lys427Glu)
|
rs2103752001
|
|
NM_000251.3(MSH2):c.127T>C (p.Tyr43His)
|
rs786202731
|
|
NM_000251.3(MSH2):c.127T>G (p.Tyr43Asp)
|
rs786202731
|
|
NM_000251.3(MSH2):c.1280A>C (p.Lys427Thr)
|
rs2103752051
|
|
NM_000251.3(MSH2):c.1281A>T (p.Lys427Asn)
|
rs1553361147
|
|
NM_000251.3(MSH2):c.1282C>G (p.His428Asp)
|
rs1421473851
|
|
NM_000251.3(MSH2):c.1284C>A (p.His428Gln)
|
|
|
NM_000251.3(MSH2):c.1284C>G (p.His428Gln)
|
rs776034412
|
|
NM_000251.3(MSH2):c.1285C>G (p.Gln429Glu)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro)
|
rs1558493372
|
|
NM_000251.3(MSH2):c.1286A>G (p.Gln429Arg)
|
rs1558493372
|
|
NM_000251.3(MSH2):c.1287G>T (p.Gln429His)
|
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
NM_000251.3(MSH2):c.1291T>G (p.Leu431Val)
|
|
|
NM_000251.3(MSH2):c.1294T>A (p.Leu432Met)
|
rs937218360
|
|
NM_000251.3(MSH2):c.1295T>G (p.Leu432Trp)
|
|
|
NM_000251.3(MSH2):c.1299G>C (p.Leu433Phe)
|
rs1573519281
|
|
NM_000251.3(MSH2):c.1300G>A (p.Ala434Thr)
|
rs2103753488
|
|
NM_000251.3(MSH2):c.1303G>A (p.Val435Ile)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser)
|
rs1573519324
|
|
NM_000251.3(MSH2):c.1308T>A (p.Phe436Leu)
|
rs2103754064
|
|
NM_000251.3(MSH2):c.1309G>A (p.Val437Met)
|
rs773956144
|
|
NM_000251.3(MSH2):c.1309G>T (p.Val437Leu)
|
|
|
NM_000251.3(MSH2):c.1312A>C (p.Thr438Pro)
|
rs1675067825
|
|
NM_000251.3(MSH2):c.1312A>T (p.Thr438Ser)
|
rs1675067825
|
|
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile)
|
rs1553361185
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1315C>A (p.Pro439Thr)
|
|
|
NM_000251.3(MSH2):c.1315C>T (p.Pro439Ser)
|
rs786203116
|
|
NM_000251.3(MSH2):c.1316C>G (p.Pro439Arg)
|
|
|
NM_000251.3(MSH2):c.1318C>G (p.Leu440Val)
|
rs1553361201
|
|
NM_000251.3(MSH2):c.1318C>T (p.Leu440Phe)
|
rs1553361201
|
|
NM_000251.3(MSH2):c.131C>A (p.Thr44Lys)
|
rs587779085
|
|
NM_000251.3(MSH2):c.131C>G (p.Thr44Arg)
|
rs587779085
|
|
NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)
|
rs587779086
|
|
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
NM_000251.3(MSH2):c.1322C>A (p.Thr441Asn)
|
|
|
NM_000251.3(MSH2):c.1322C>G (p.Thr441Ser)
|
rs1553361210
|
|
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile)
|
rs1553361210
|
|
NM_000251.3(MSH2):c.1324G>A (p.Asp442Asn)
|
|
|
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)
|
rs876659906
|
|
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val)
|
rs876659906
|
|
NM_000251.3(MSH2):c.1328T>C (p.Leu443Pro)
|
rs1553361220
|
|
NM_000251.3(MSH2):c.1328T>G (p.Leu443Arg)
|
|
|
NM_000251.3(MSH2):c.1330C>G (p.Arg444Gly)
|
|
|
NM_000251.3(MSH2):c.1330C>T (p.Arg444Cys)
|
rs1675070099
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
NM_000251.3(MSH2):c.1333T>G (p.Ser445Ala)
|
rs1553361224
|
|
NM_000251.3(MSH2):c.1334C>A (p.Ser445Tyr)
|
rs752067883
|
|
NM_000251.3(MSH2):c.1334C>G (p.Ser445Cys)
|
rs752067883
|
|
NM_000251.3(MSH2):c.1336G>A (p.Asp446Asn)
|
rs1675070779
|
|
NM_000251.3(MSH2):c.1339T>G (p.Phe447Val)
|
rs63751217
|
|
NM_000251.3(MSH2):c.133G>A (p.Ala45Thr)
|
|
|
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)
|
rs587782524
|
|
NM_000251.3(MSH2):c.1346A>G (p.Lys449Arg)
|
rs879254064
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
NM_000251.3(MSH2):c.1350T>G (p.Phe450Leu)
|
rs2103757425
|
|
NM_000251.3(MSH2):c.1351C>G (p.Gln451Glu)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1352A>G (p.Gln451Arg)
|
rs878853801
|
|
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu)
|
rs1558493602
|
|
NM_000251.3(MSH2):c.1357A>G (p.Met453Val)
|
|
|
NM_000251.3(MSH2):c.1360A>C (p.Ile454Leu)
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)
|
rs777963115
|
|
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
|
|
|
NM_000251.3(MSH2):c.136C>G (p.His46Asp)
|
rs1553348821
|
|
NM_000251.3(MSH2):c.136C>T (p.His46Tyr)
|
rs1553348821
|
|
NM_000251.3(MSH2):c.1370C>T (p.Thr457Ile)
|
rs1675074892
|
|
NM_000251.3(MSH2):c.1372T>G (p.Leu458Val)
|
rs1573519744
|
|
NM_000251.3(MSH2):c.1373T>C (p.Leu458Ser)
|
|
|
NM_000251.3(MSH2):c.1375G>A (p.Asp459Asn)
|
rs1553361295
|
|
NM_000251.3(MSH2):c.1375G>C (p.Asp459His)
|
rs1553361295
|
|
NM_000251.3(MSH2):c.1375G>T (p.Asp459Tyr)
|
|
|
NM_000251.3(MSH2):c.1376A>G (p.Asp459Gly)
|
rs2103759342
|
|
NM_000251.3(MSH2):c.137A>C (p.His46Pro)
|
rs1553348822
|
|
NM_000251.3(MSH2):c.1380G>C (p.Met460Ile)
|
rs757534022
|
|
NM_000251.3(MSH2):c.1380_1381delinsTT (p.Met460_Asp461delinsIleTyr)
|
rs2103759687
|
|
NM_000251.3(MSH2):c.1382A>G (p.Asp461Gly)
|
rs730881756
|
|
NM_000251.3(MSH2):c.1383T>A (p.Asp461Glu)
|
rs1114167881
|
|
NM_000251.3(MSH2):c.1384C>G (p.Gln462Glu)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1386+3A>G
|
rs746390631
|
|
NM_000251.3(MSH2):c.1386+4T>C
|
|
|
NM_000251.3(MSH2):c.1386+5G>A
|
rs1553361317
|
|
NM_000251.3(MSH2):c.1386+6C>G
|
rs1675077236
|
|
NM_000251.3(MSH2):c.1386+6C>T
|
rs1675077236
|
|
NM_000251.3(MSH2):c.1386G>A (p.Gln462=)
|
rs587781997
|
|
NM_000251.3(MSH2):c.1386G>C (p.Gln462His)
|
rs587781997
|
|
NM_000251.3(MSH2):c.1387-3C>T
|
rs1553365696
|
|
NM_000251.3(MSH2):c.1387-5T>A
|
rs757458333
|
|
NM_000251.3(MSH2):c.1387-9T>C
|
rs587779087
|
|
NM_000251.3(MSH2):c.1387G>A (p.Val463Met)
|
rs1064793825
|
|
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)
|
rs1487094949
|
|
NM_000251.3(MSH2):c.1396C>G (p.His466Asp)
|
|
|
NM_000251.3(MSH2):c.1396C>T (p.His466Tyr)
|
rs876658457
|
|
NM_000251.3(MSH2):c.1399G>A (p.Glu467Lys)
|
|
|
NM_000251.3(MSH2):c.139G>A (p.Gly47Ser)
|
rs763573151
|
|
NM_000251.3(MSH2):c.13C>G (p.Pro5Ala)
|
rs1573422612
|
|
NM_000251.3(MSH2):c.13C>T (p.Pro5Ser)
|
rs1573422612
|
|
NM_000251.3(MSH2):c.1403T>G (p.Phe468Cys)
|
rs1666725141
|
|
NM_000251.3(MSH2):c.1404C>G (p.Phe468Leu)
|
rs1255961940
|
|
NM_000251.3(MSH2):c.1405C>T (p.Leu469Phe)
|
|
|
NM_000251.3(MSH2):c.1406T>A (p.Leu469His)
|
|
|
NM_000251.3(MSH2):c.1408G>A (p.Val470Ile)
|
rs1391167729
|
|
NM_000251.3(MSH2):c.1408G>C (p.Val470Leu)
|
rs1391167729
|
|
NM_000251.3(MSH2):c.1412A>G (p.Lys471Arg)
|
rs1573547722
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
NM_000251.3(MSH2):c.1414C>G (p.Pro472Ala)
|
rs1558508137
|
|
NM_000251.3(MSH2):c.1415C>T (p.Pro472Leu)
|
rs1553365723
|
|
NM_000251.3(MSH2):c.141C>T (p.Gly47=)
|
rs587779090
|
|
NM_000251.3(MSH2):c.1423G>A (p.Asp475Asn)
|
rs2104086208
|
|
NM_000251.3(MSH2):c.1424A>G (p.Asp475Gly)
|
rs1349765126
|
|
NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg)
|
|
|
NM_000251.3(MSH2):c.1429A>G (p.Asn477Asp)
|
rs587781346
|
|
NM_000251.3(MSH2):c.1429A>T (p.Asn477Tyr)
|
rs587781346
|
|
NM_000251.3(MSH2):c.142G>A (p.Glu48Lys)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1432C>G (p.Leu478Val)
|
rs1051194508
|
|
NM_000251.3(MSH2):c.1438G>A (p.Glu480Lys)
|
|
|
NM_000251.3(MSH2):c.1439A>G (p.Glu480Gly)
|
rs1558508167
|
|
NM_000251.3(MSH2):c.1440A>T (p.Glu480Asp)
|
rs138049198
|
|
NM_000251.3(MSH2):c.1441T>A (p.Leu481Ile)
|
rs1573547857
|
|
NM_000251.3(MSH2):c.1445G>C (p.Arg482Thr)
|
rs1553365747
|
|
NM_000251.3(MSH2):c.144G>T (p.Glu48Asp)
|
|
|
NM_000251.3(MSH2):c.1450A>G (p.Ile484Val)
|
rs1008774957
|
|
NM_000251.3(MSH2):c.1451T>A (p.Ile484Lys)
|
rs1225132374
|
|
NM_000251.3(MSH2):c.1452A>G (p.Ile484Met)
|
|
|
NM_000251.3(MSH2):c.1453A>C (p.Met485Leu)
|
rs775377647
|
|
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)
|
rs1553365763
|
|
NM_000251.3(MSH2):c.1455G>A (p.Met485Ile)
|
rs876659702
|
|
NM_000251.3(MSH2):c.1456A>T (p.Asn486Tyr)
|
rs1472536680
|
|
NM_000251.3(MSH2):c.1457A>G (p.Asn486Ser)
|
rs2104089540
|
|
NM_000251.3(MSH2):c.145G>A (p.Asp49Asn)
|
rs1488461123
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1466A>G (p.Glu489Gly)
|
rs2104090316
|
|
NM_000251.3(MSH2):c.1467A>C (p.Glu489Asp)
|
rs1553365781
|
|
NM_000251.3(MSH2):c.1467A>T (p.Glu489Asp)
|
|
|
NM_000251.3(MSH2):c.1469A>G (p.Lys490Arg)
|
rs1060502008
|
|
NM_000251.3(MSH2):c.1473_1510+7dup
|
|
|
NM_000251.3(MSH2):c.1474A>T (p.Met492Leu)
|
rs774419666
|
|
NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)
|
rs1553365792
|
|
NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)
|
rs730881771
|
|
NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)
|
rs730881757
|
|
NM_000251.3(MSH2):c.1486T>G (p.Leu496Val)
|
|
|
NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1488A>C (p.Leu496Phe)
|
rs267607960
|
|
NM_000251.3(MSH2):c.148G>A (p.Ala50Thr)
|
|
|
NM_000251.3(MSH2):c.1491A>G (p.Ile497Met)
|
rs1558508340
|
|
NM_000251.3(MSH2):c.1493G>A (p.Ser498Asn)
|
rs1553365810
|
|
NM_000251.3(MSH2):c.1495G>A (p.Ala499Thr)
|
|
|
NM_000251.3(MSH2):c.1495G>C (p.Ala499Pro)
|
rs1060502010
|
|
NM_000251.3(MSH2):c.1495G>T (p.Ala499Ser)
|
|
|
NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro)
|
rs1666733944
|
|
NM_000251.3(MSH2):c.1499C>G (p.Ala500Gly)
|
|
|
NM_000251.3(MSH2):c.1499C>T (p.Ala500Val)
|
|
|
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)
|
rs876658582
|
|
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)
|
rs876658582
|
|
NM_000251.3(MSH2):c.149C>T (p.Ala50Val)
|
rs876658582
|
|
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)
|
rs56170584
|
|
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)
|
rs56170584
|
|
NM_000251.3(MSH2):c.1501A>G (p.Arg501Gly)
|
rs1666734097
|
|
NM_000251.3(MSH2):c.1502G>C (p.Arg501Thr)
|
|
|
NM_000251.3(MSH2):c.1505A>T (p.Asp502Val)
|
rs148192104
|
|
NM_000251.3(MSH2):c.1507C>A (p.Leu503Ile)
|
rs1553365825
|
|
NM_000251.3(MSH2):c.1507C>G (p.Leu503Val)
|
rs1553365825
|
|
NM_000251.3(MSH2):c.1507C>T (p.Leu503Phe)
|
rs1553365825
|
|
NM_000251.3(MSH2):c.1508T>A (p.Leu503His)
|
rs587779095
|
|
NM_000251.3(MSH2):c.1510+18_1510+19insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGGTCATTGG
|
rs2104095063
|
|
NM_000251.3(MSH2):c.1510+4A>G
|
rs1666734957
|
|
NM_000251.3(MSH2):c.1510+5G>A
|
|
|
NM_000251.3(MSH2):c.1510+5G>C
|
|
|
NM_000251.3(MSH2):c.1510+6A>G
|
rs1666735071
|
|
NM_000251.3(MSH2):c.1510+6_1510+7del
|
rs1060502013
|
|
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg)
|
rs63751600
|
|
NM_000251.3(MSH2):c.1510G>T (p.Gly504Cys)
|
rs63751600
|
|
NM_000251.3(MSH2):c.1511-13_1511-9delinsGT
|
rs1558510749
|
|
NM_000251.3(MSH2):c.1511-3A>G
|
|
|
NM_000251.3(MSH2):c.1511-8T>A
|
rs267607963
|
|
NM_000251.3(MSH2):c.1511G>A (p.Gly504Asp)
|
|
|
NM_000251.3(MSH2):c.1518C>A (p.Asp506Glu)
|
rs1553366508
|
|
NM_000251.3(MSH2):c.1519C>A (p.Pro507Thr)
|
rs1553366511
|
|
NM_000251.3(MSH2):c.151C>G (p.Leu51Val)
|
rs1573423801
|
|
NM_000251.3(MSH2):c.1523G>C (p.Gly508Ala)
|
rs786202710
|
|
NM_000251.3(MSH2):c.1530G>T (p.Gln510His)
|
rs587782355
|
|
NM_000251.3(MSH2):c.1532T>G (p.Ile511Ser)
|
rs1573553170
|
|
NM_000251.3(MSH2):c.1533T>G (p.Ile511Met)
|
rs1553366529
|
|
NM_000251.3(MSH2):c.1537C>G (p.Leu513Val)
|
rs1553366533
|
|
NM_000251.3(MSH2):c.1544C>A (p.Ser515Tyr)
|
|
|
NM_000251.3(MSH2):c.1544C>G (p.Ser515Cys)
|
rs1348895710
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1549G>A (p.Ala517Thr)
|
rs1553366545
|
|
NM_000251.3(MSH2):c.154C>A (p.Leu52Met)
|
rs786202335
|
|
NM_000251.3(MSH2):c.154C>G (p.Leu52Val)
|
rs786202335
|
|
NM_000251.3(MSH2):c.1553A>C (p.Gln518Pro)
|
rs763323368
|
|
NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)
|
|
|
NM_000251.3(MSH2):c.1555T>C (p.Phe519Leu)
|
|
|
NM_000251.3(MSH2):c.1556T>G (p.Phe519Cys)
|
rs1225503418
|
|
NM_000251.3(MSH2):c.1557T>A (p.Phe519Leu)
|
|
|
NM_000251.3(MSH2):c.1557T>G (p.Phe519Leu)
|
rs1573553312
|
|
NM_000251.3(MSH2):c.1558G>A (p.Gly520Arg)
|
rs2104175628
|
|
NM_000251.3(MSH2):c.1559G>A (p.Gly520Glu)
|
rs1666896237
|
|
NM_000251.3(MSH2):c.1559G>C (p.Gly520Ala)
|
|
|
NM_000251.3(MSH2):c.1559G>T (p.Gly520Val)
|
|
|
NM_000251.3(MSH2):c.1561T>A (p.Tyr521Asn)
|
rs1553366562
|
|
NM_000251.3(MSH2):c.1561T>G (p.Tyr521Asp)
|
rs1553366562
|
|
NM_000251.3(MSH2):c.1562A>G (p.Tyr521Cys)
|
rs879254040
|
|
NM_000251.3(MSH2):c.1564T>C (p.Tyr522His)
|
rs1553366567
|
|
NM_000251.3(MSH2):c.1565A>G (p.Tyr522Cys)
|
rs1573553370
|
|
NM_000251.3(MSH2):c.1567T>G (p.Phe523Val)
|
rs267607966
|
|
NM_000251.3(MSH2):c.1571G>T (p.Arg524Leu)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1573G>T (p.Val525Leu)
|
|
|
NM_000251.3(MSH2):c.1577C>A (p.Thr526Asn)
|
rs1204369578
|
|
NM_000251.3(MSH2):c.1577C>G (p.Thr526Ser)
|
|
|
NM_000251.3(MSH2):c.1579T>G (p.Cys527Gly)
|
rs2104178065
|
|
NM_000251.3(MSH2):c.157G>A (p.Ala53Thr)
|
rs755931648
|
|
NM_000251.3(MSH2):c.1580G>C (p.Cys527Ser)
|
rs1553366585
|
|
NM_000251.3(MSH2):c.1582A>G (p.Lys528Glu)
|
rs199744440
|
|
NM_000251.3(MSH2):c.1583A>G (p.Lys528Arg)
|
rs755799226
|
|
NM_000251.3(MSH2):c.1583A>T (p.Lys528Met)
|
rs755799226
|
|
NM_000251.3(MSH2):c.1588G>C (p.Glu530Gln)
|
|
|
NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala)
|
rs1666901220
|
|
NM_000251.3(MSH2):c.1589A>G (p.Glu530Gly)
|
rs1666901220
|
|
NM_000251.3(MSH2):c.158C>G (p.Ala53Gly)
|
rs1456393710
|
|
NM_000251.3(MSH2):c.158C>T (p.Ala53Val)
|
|
|
NM_000251.3(MSH2):c.1591A>G (p.Lys531Glu)
|
|
|
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn)
|
rs1553366599
|
|
NM_000251.3(MSH2):c.1593A>T (p.Lys531Asn)
|
|
|
NM_000251.3(MSH2):c.1594G>A (p.Val532Ile)
|
rs2104179381
|
|
NM_000251.3(MSH2):c.1594G>C (p.Val532Leu)
|
rs2104179381
|
|
NM_000251.3(MSH2):c.1595T>A (p.Val532Asp)
|
rs754778750
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
NM_000251.3(MSH2):c.1597C>A (p.Leu533Ile)
|
rs786202987
|
|
NM_000251.3(MSH2):c.1597C>T (p.Leu533Phe)
|
rs786202987
|
|
NM_000251.3(MSH2):c.1601G>C (p.Arg534Pro)
|
rs587778523
|
|
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)
|
rs587778523
|
|
NM_000251.3(MSH2):c.1603A>G (p.Asn535Asp)
|
rs1666902628
|
|
NM_000251.3(MSH2):c.1605C>G (p.Asn535Lys)
|
rs587779098
|
|
NM_000251.3(MSH2):c.1606A>G (p.Asn536Asp)
|
rs2104180432
|
|
NM_000251.3(MSH2):c.1607A>T (p.Asn536Ile)
|
rs201722703
|
|
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)
|
rs749212640
|
|
NM_000251.3(MSH2):c.160G>C (p.Ala54Pro)
|
rs749212640
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.1610A>G (p.Lys537Arg)
|
rs747074044
|
|
NM_000251.3(MSH2):c.1612A>G (p.Asn538Asp)
|
rs1553366615
|
|
NM_000251.3(MSH2):c.1613A>G (p.Asn538Ser)
|
rs1553366617
|
|
NM_000251.3(MSH2):c.1615T>A (p.Phe539Ile)
|
|
|
NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)
|
rs1558511106
|
|
NM_000251.3(MSH2):c.1616T>A (p.Phe539Tyr)
|
rs2104181198
|
|
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)
|
rs730881759
|
|
NM_000251.3(MSH2):c.1618A>C (p.Ser540Arg)
|
rs1268933712
|
|
NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly)
|
rs1268933712
|
|
NM_000251.3(MSH2):c.1619G>A (p.Ser540Asn)
|
rs1553366622
|
|
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)
|
rs1553366622
|
|
NM_000251.3(MSH2):c.161C>T (p.Ala54Val)
|
rs768661914
|
|
NM_000251.3(MSH2):c.1620T>A (p.Ser540Arg)
|
|
|
NM_000251.3(MSH2):c.1621A>T (p.Thr541Ser)
|
rs141150847
|
|
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)
|
rs1553366630
|
|
NM_000251.3(MSH2):c.1627G>A (p.Asp543Asn)
|
rs2104182627
|
|
NM_000251.3(MSH2):c.1628A>G (p.Asp543Gly)
|
|
|
NM_000251.3(MSH2):c.1629T>G (p.Asp543Glu)
|
rs1553366639
|
|
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)
|
rs587778524
|
|
NM_000251.3(MSH2):c.1635G>T (p.Gln545His)
|
rs1558511163
|
|
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
|
|
|
NM_000251.3(MSH2):c.1637A>G (p.Lys546Arg)
|
rs1573553723
|
|
NM_000251.3(MSH2):c.1638G>C (p.Lys546Asn)
|
rs372350768
|
|
NM_000251.3(MSH2):c.163C>A (p.Arg55=)
|
rs587782354
|
|
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp)
|
rs587782354
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
NM_000251.3(MSH2):c.1643G>A (p.Gly548Asp)
|
rs1573553753
|
|
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)
|
rs876659905
|
|
NM_000251.3(MSH2):c.1645G>T (p.Val549Phe)
|
rs876659905
|
|
NM_000251.3(MSH2):c.1648A>G (p.Lys550Glu)
|
rs1558511191
|
|
NM_000251.3(MSH2):c.164G>C (p.Arg55Pro)
|
rs748196422
|
|
NM_000251.3(MSH2):c.1651T>A (p.Phe551Ile)
|
rs1666906629
|
|
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)
|
rs63750838
|
|
NM_000251.3(MSH2):c.1654A>G (p.Thr552Ala)
|
rs63750838
|
|
NM_000251.3(MSH2):c.1655C>G (p.Thr552Ser)
|
rs1666906992
|
|
NM_000251.3(MSH2):c.1655C>T (p.Thr552Ile)
|
rs1666906992
|
|
NM_000251.3(MSH2):c.1657A>G (p.Asn553Asp)
|
rs772772789
|
|
NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)
|
rs2104185998
|
|
NM_000251.3(MSH2):c.1659C>G (p.Asn553Lys)
|
rs869312796
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1661+11_1661+12delinsTA
|
|
|
NM_000251.3(MSH2):c.1661+12_1661+13delinsAA
|
|
|
NM_000251.3(MSH2):c.1661+13T>G
|
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-10C>G
|
rs752606387
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
NM_000251.3(MSH2):c.1662-3C>T
|
rs878853804
|
|
NM_000251.3(MSH2):c.1662C>G (p.Ser554Arg)
|
rs587778525
|
|
NM_000251.3(MSH2):c.1663A>C (p.Lys555Gln)
|
rs1553367573
|
|
NM_000251.3(MSH2):c.1668G>C (p.Leu556Phe)
|
rs1573560244
|
|
NM_000251.3(MSH2):c.1668G>T (p.Leu556Phe)
|
rs1573560244
|
|
NM_000251.3(MSH2):c.1669A>G (p.Thr557Ala)
|
rs63750432
|
|
NM_000251.3(MSH2):c.1669A>T (p.Thr557Ser)
|
rs63750432
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1670C>T (p.Thr557Ile)
|
rs139920308
|
|
NM_000251.3(MSH2):c.1670CTT[1] (p.Ser558del)
|
rs1558514487
|
|
NM_000251.3(MSH2):c.1673C>T (p.Ser558Phe)
|
rs1553367602
|
|
NM_000251.3(MSH2):c.1676T>C (p.Leu559Ser)
|
rs1667073440
|
|
NM_000251.3(MSH2):c.1679A>G (p.Asn560Ser)
|
rs1429353441
|
|
NM_000251.3(MSH2):c.167A>T (p.Glu56Val)
|
rs587782004
|
|
NM_000251.3(MSH2):c.167_184del (p.Glu56_Gln61del)
|
rs1553348867
|
|
NM_000251.3(MSH2):c.1682_1685inv (p.Glu561_Glu562delinsValLeu)
|
|
|
NM_000251.3(MSH2):c.1686G>C (p.Glu562Asp)
|
rs786203850
|
|
NM_000251.3(MSH2):c.1687T>A (p.Tyr563Asn)
|
rs1553367622
|
|
NM_000251.3(MSH2):c.1687T>C (p.Tyr563His)
|
rs1553367622
|
|
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
NM_000251.3(MSH2):c.1688A>T (p.Tyr563Phe)
|
|
|
NM_000251.3(MSH2):c.168G>C (p.Glu56Asp)
|
rs1281893745
|
|
NM_000251.3(MSH2):c.1691C>A (p.Thr564Asn)
|
rs1553367632
|
|
NM_000251.3(MSH2):c.1691C>G (p.Thr564Ser)
|
rs1553367632
|
|
NM_000251.3(MSH2):c.1691C>T (p.Thr564Ile)
|
rs1553367632
|
|
NM_000251.3(MSH2):c.1695A>C (p.Lys565Asn)
|
rs1667075835
|
|
NM_000251.3(MSH2):c.1696A>C (p.Asn566His)
|
|
|
NM_000251.3(MSH2):c.169G>A (p.Val57Met)
|
rs267607913
|
|
NM_000251.3(MSH2):c.1700A>C (p.Lys567Thr)
|
rs1667076297
|
|
NM_000251.3(MSH2):c.1700_1702del (p.Lys567del)
|
rs587779105
|
|
NM_000251.3(MSH2):c.1702A>G (p.Thr568Ala)
|
rs1667076382
|
|
NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)
|
rs1285862035
|
|
NM_000251.3(MSH2):c.1703C>T (p.Thr568Ile)
|
rs1285862035
|
|
NM_000251.3(MSH2):c.1705G>C (p.Glu569Gln)
|
rs1449130671
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
NM_000251.3(MSH2):c.1708T>C (p.Tyr570His)
|
rs1553367656
|
|
NM_000251.3(MSH2):c.1709A>C (p.Tyr570Ser)
|
rs587779963
|
|
NM_000251.3(MSH2):c.1709A>T (p.Tyr570Phe)
|
rs587779963
|
|
NM_000251.3(MSH2):c.170T>G (p.Val57Gly)
|
rs1558451971
|
|
NM_000251.3(MSH2):c.1711G>C (p.Glu571Gln)
|
rs1667077650
|
|
NM_000251.3(MSH2):c.1712A>G (p.Glu571Gly)
|
rs1667077799
|
|
NM_000251.3(MSH2):c.1712AAG[1] (p.Glu572del)
|
rs1667077735
|
|
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile)
|
rs1558514635
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1721A>G (p.Gln574Arg)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1722G>T (p.Gln574His)
|
rs1667078764
|
|
NM_000251.3(MSH2):c.1725T>A (p.Asp575Glu)
|
rs906877196
|
|
NM_000251.3(MSH2):c.1729A>C (p.Ile577Leu)
|
rs774985655
|
|
NM_000251.3(MSH2):c.1732G>A (p.Val578Ile)
|
rs1667082140
|
|
NM_000251.3(MSH2):c.1735A>G (p.Lys579Glu)
|
rs1573560604
|
|
NM_000251.3(MSH2):c.1738G>A (p.Glu580Lys)
|
rs63751411
|
|
NM_000251.3(MSH2):c.1744G>C (p.Val582Leu)
|
rs2104279458
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)
|
rs372189599
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
NM_000251.3(MSH2):c.1751T>C (p.Ile584Thr)
|
rs1573560689
|
|
NM_000251.3(MSH2):c.1754C>T (p.Ser585Phe)
|
rs1280971849
|
|
NM_000251.3(MSH2):c.1758A>G (p.Ser586=)
|
rs2104280341
|
|
NM_000251.3(MSH2):c.1759+3A>T
|
rs863224630
|
|
NM_000251.3(MSH2):c.1759+4A>G
|
rs1667084426
|
|
NM_000251.3(MSH2):c.1760-11T>G
|
|
|
NM_000251.3(MSH2):c.1760G>T (p.Gly587Val)
|
rs1436608214
|
|
NM_000251.3(MSH2):c.1763A>G (p.Tyr588Cys)
|
rs1236199597
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
NM_000251.3(MSH2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_000251.3(MSH2):c.1769A>G (p.Glu590Gly)
|
rs2104335303
|
|
NM_000251.3(MSH2):c.176A>G (p.Lys59Arg)
|
rs777174093
|
|
NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)
|
rs951988481
|
|
NM_000251.3(MSH2):c.1771C>G (p.Pro591Ala)
|
|
|
NM_000251.3(MSH2):c.1775T>C (p.Met592Thr)
|
rs1667230405
|
|
NM_000251.3(MSH2):c.1777C>G (p.Gln593Glu)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1778A>G (p.Gln593Arg)
|
rs1558517711
|
|
NM_000251.3(MSH2):c.1778A>T (p.Gln593Leu)
|
rs1558517711
|
|
NM_000251.3(MSH2):c.1779G>C (p.Gln593His)
|
rs1553368505
|
|
NM_000251.3(MSH2):c.1781C>A (p.Thr594Lys)
|
rs1553368510
|
|
NM_000251.3(MSH2):c.1783C>G (p.Leu595Val)
|
rs1553368514
|
|
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)
|
rs1553368514
|
|
NM_000251.3(MSH2):c.1784T>C (p.Leu595Pro)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1785_1790del (p.Asn596_Asp597del)
|
rs2104336676
|
|
NM_000251.3(MSH2):c.1786A>C (p.Asn596His)
|
rs1064794906
|
|
NM_000251.3(MSH2):c.1787A>T (p.Asn596Ile)
|
rs41295288
|
|
NM_000251.3(MSH2):c.178A>C (p.Thr60Pro)
|
rs1573424088
|
|
NM_000251.3(MSH2):c.1790A>G (p.Asp597Gly)
|
rs548407418
|
|
NM_000251.3(MSH2):c.1790A>T (p.Asp597Val)
|
rs548407418
|
|
NM_000251.3(MSH2):c.1793T>C (p.Val598Ala)
|
rs2104337376
|
|
NM_000251.3(MSH2):c.1795T>G (p.Leu599Val)
|
rs112457919
|
|
NM_000251.3(MSH2):c.1798G>C (p.Ala600Pro)
|
rs587778526
|
|
NM_000251.3(MSH2):c.1799C>G (p.Ala600Gly)
|
rs63751236
|
|
NM_000251.3(MSH2):c.17A>G (p.Lys6Arg)
|
|
|
NM_000251.3(MSH2):c.1802A>C (p.Gln601Pro)
|
rs779447213
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1808A>C (p.Asp603Ala)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)
|
rs1553368568
|
|
NM_000251.3(MSH2):c.1811C>G (p.Ala604Gly)
|
rs2104338716
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
NM_000251.3(MSH2):c.1816_1818del (p.Val606del)
|
rs2104339189
|
|
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala)
|
rs376044376
|
|
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del)
|
rs1553368576
|
|
NM_000251.3(MSH2):c.1819A>C (p.Ser607Arg)
|
|
|
NM_000251.3(MSH2):c.1819A>T (p.Ser607Cys)
|
rs772991620
|
|
NM_000251.3(MSH2):c.181C>G (p.Gln61Glu)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1820G>C (p.Ser607Thr)
|
rs2104339417
|
|
NM_000251.3(MSH2):c.1822T>C (p.Phe608Leu)
|
rs2104339508
|
|
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro)
|
rs150980616
|
|
NM_000251.3(MSH2):c.1826C>G (p.Ala609Gly)
|
rs63750665
|
|
NM_000251.3(MSH2):c.1826C>T (p.Ala609Val)
|
rs63750665
|
|
NM_000251.3(MSH2):c.1828C>A (p.His610Asn)
|
rs267607980
|
|
NM_000251.3(MSH2):c.1828C>G (p.His610Asp)
|
rs267607980
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
NM_000251.3(MSH2):c.1829A>G (p.His610Arg)
|
rs1667236175
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.1830C>A (p.His610Gln)
|
rs766326295
|
|
NM_000251.3(MSH2):c.1830C>G (p.His610Gln)
|
rs766326295
|
|
NM_000251.3(MSH2):c.1831G>C (p.Val611Leu)
|
rs369385048
|
|
NM_000251.3(MSH2):c.1831G>T (p.Val611Leu)
|
rs369385048
|
|
NM_000251.3(MSH2):c.1837A>T (p.Asn613Tyr)
|
rs200147804
|
|
NM_000251.3(MSH2):c.1838A>G (p.Asn613Ser)
|
|
|
NM_000251.3(MSH2):c.1841G>A (p.Gly614Glu)
|
rs1298430398
|
|
NM_000251.3(MSH2):c.1843G>A (p.Ala615Thr)
|
rs1223047169
|
|
NM_000251.3(MSH2):c.1843G>C (p.Ala615Pro)
|
rs1223047169
|
|
NM_000251.3(MSH2):c.1844C>T (p.Ala615Val)
|
rs765493709
|
|
NM_000251.3(MSH2):c.1846C>A (p.Pro616Thr)
|
rs587782627
|
|
NM_000251.3(MSH2):c.1846C>G (p.Pro616Ala)
|
rs587782627
|
|
NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)
|
rs587782627
|
|
NM_000251.3(MSH2):c.184G>A (p.Gly62Arg)
|
rs767140240
|
|
NM_000251.3(MSH2):c.184G>C (p.Gly62Arg)
|
rs767140240
|
|
NM_000251.3(MSH2):c.1852C>T (p.Pro618Ser)
|
rs1573566801
|
|
NM_000251.3(MSH2):c.1853C>T (p.Pro618Leu)
|
rs1486519909
|
|
NM_000251.3(MSH2):c.1858G>A (p.Val620Ile)
|
|
|
NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)
|
rs879254195
|
|
NM_000251.3(MSH2):c.1867G>A (p.Ala623Thr)
|
rs1114167846
|
|
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val)
|
rs781698416
|
|
NM_000251.3(MSH2):c.186G>T (p.Gly62=)
|
rs750058876
|
|
NM_000251.3(MSH2):c.1870A>G (p.Ile624Val)
|
rs1553368626
|
|
NM_000251.3(MSH2):c.1871T>C (p.Ile624Thr)
|
|
|
NM_000251.3(MSH2):c.1875_1876delinsTA (p.Leu625_Glu626delinsPheLys)
|
rs2104343103
|
|
NM_000251.3(MSH2):c.1876G>C (p.Glu626Gln)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.1877A>G (p.Glu626Gly)
|
|
|
NM_000251.3(MSH2):c.1879A>G (p.Lys627Glu)
|
rs1558518146
|
|
NM_000251.3(MSH2):c.187G>T (p.Val63Leu)
|
rs1553348889
|
|
NM_000251.3(MSH2):c.1882G>C (p.Gly628Arg)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1883G>A (p.Gly628Glu)
|
rs879254044
|
|
NM_000251.3(MSH2):c.1883G>T (p.Gly628Val)
|
rs879254044
|
|
NM_000251.3(MSH2):c.1885C>G (p.Gln629Glu)
|
|
|
NM_000251.3(MSH2):c.188T>C (p.Val63Ala)
|
rs1558452054
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
NM_000251.3(MSH2):c.1897A>C (p.Ile633Leu)
|
rs771695599
|
|
NM_000251.3(MSH2):c.1897A>T (p.Ile633Leu)
|
rs771695599
|
|
NM_000251.3(MSH2):c.1899A>G (p.Ile633Met)
|
rs1667243318
|
|
NM_000251.3(MSH2):c.1899A>T (p.Ile633=)
|
rs1667243318
|
|
NM_000251.3(MSH2):c.18G>T (p.Lys6Asn)
|
rs146017810
|
|
NM_000251.3(MSH2):c.1905A>T (p.Lys635Asn)
|
rs2104344792
|
|
NM_000251.3(MSH2):c.1909T>C (p.Ser637Pro)
|
rs2104345040
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)
|
rs1064795992
|
|
NM_000251.3(MSH2):c.1914G>T (p.Arg638Ser)
|
rs1177447151
|
|
NM_000251.3(MSH2):c.1915C>A (p.His639Asn)
|
|
|
NM_000251.3(MSH2):c.1916A>C (p.His639Pro)
|
rs587779116
|
|
NM_000251.3(MSH2):c.1916A>G (p.His639Arg)
|
rs587779116
|
|
NM_000251.3(MSH2):c.1917T>A (p.His639Gln)
|
rs1800152
|
|
NM_000251.3(MSH2):c.1918G>A (p.Ala640Thr)
|
rs531276135
|
|
NM_000251.3(MSH2):c.1919C>G (p.Ala640Gly)
|
rs1667244869
|
|
NM_000251.3(MSH2):c.1922G>C (p.Cys641Ser)
|
rs786204110
|
|
NM_000251.3(MSH2):c.1922G>T (p.Cys641Phe)
|
rs786204110
|
|
NM_000251.3(MSH2):c.1924G>C (p.Val642Leu)
|
rs776528054
|
|
NM_000251.3(MSH2):c.1924G>T (p.Val642Phe)
|
rs776528054
|
|
NM_000251.3(MSH2):c.1934A>C (p.Gln645Pro)
|
rs1573567208
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
NM_000251.3(MSH2):c.1936G>T (p.Asp646Tyr)
|
rs1573567223
|
|
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly)
|
rs41295290
|
|
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val)
|
rs41295290
|
|
NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr)
|
rs763100088
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
NM_000251.3(MSH2):c.1946C>A (p.Ala649Glu)
|
rs876659816
|
|
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)
|
rs876659816
|
|
NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)
|
|
|
NM_000251.3(MSH2):c.194A>G (p.Lys65Arg)
|
rs2103881225
|
|
NM_000251.3(MSH2):c.1951A>C (p.Ile651Leu)
|
|
|
NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)
|
rs878853806
|
|
NM_000251.3(MSH2):c.1951A>T (p.Ile651Phe)
|
|
|
NM_000251.3(MSH2):c.1952T>C (p.Ile651Thr)
|
rs1667248028
|
|
NM_000251.3(MSH2):c.1954C>A (p.Pro652Thr)
|
rs876660900
|
|
NM_000251.3(MSH2):c.1954C>G (p.Pro652Ala)
|
rs876660900
|
|
NM_000251.3(MSH2):c.1954C>T (p.Pro652Ser)
|
rs876660900
|
|
NM_000251.3(MSH2):c.1955C>T (p.Pro652Leu)
|
rs267607983
|
|
NM_000251.3(MSH2):c.1957A>T (p.Asn653Tyr)
|
|
|
NM_000251.3(MSH2):c.195G>C (p.Lys65Asn)
|
rs1672253554
|
|
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val)
|
rs2104348304
|
|
NM_000251.3(MSH2):c.1962C>G (p.Asp654Glu)
|
rs751939698
|
|
NM_000251.3(MSH2):c.1964del (p.Val655fs)
|
rs1667248887
|
|
NM_000251.3(MSH2):c.1966T>C (p.Tyr656His)
|
rs1573567393
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
NM_000251.3(MSH2):c.1969T>A (p.Phe657Ile)
|
|
|
NM_000251.3(MSH2):c.1969T>G (p.Phe657Val)
|
|
|
NM_000251.3(MSH2):c.1970T>G (p.Phe657Cys)
|
rs1667249809
|
|
NM_000251.3(MSH2):c.1972G>C (p.Glu658Gln)
|
rs1558518517
|
|
NM_000251.3(MSH2):c.1977A>C (p.Lys659Asn)
|
rs1667250253
|
|
NM_000251.3(MSH2):c.1978G>A (p.Asp660Asn)
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
NM_000251.3(MSH2):c.1980T>A (p.Asp660Glu)
|
rs1060501988
|
|
NM_000251.3(MSH2):c.1981A>G (p.Lys661Glu)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1982A>G (p.Lys661Arg)
|
rs1558518553
|
|
NM_000251.3(MSH2):c.1984C>G (p.Gln662Glu)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1986G>C (p.Gln662His)
|
rs587780685
|
|
NM_000251.3(MSH2):c.1986G>T (p.Gln662His)
|
rs587780685
|
|
NM_000251.3(MSH2):c.1989G>A (p.Met663Ile)
|
rs863224640
|
|
NM_000251.3(MSH2):c.1992C>G (p.Phe664Leu)
|
rs777450803
|
|
NM_000251.3(MSH2):c.1993C>T (p.His665Tyr)
|
rs1573567600
|
|
NM_000251.3(MSH2):c.1994A>C (p.His665Pro)
|
rs2104350343
|
|
NM_000251.3(MSH2):c.1995C>G (p.His665Gln)
|
rs1553368723
|
|
NM_000251.3(MSH2):c.1996A>G (p.Ile666Val)
|
rs1667252115
|
|
NM_000251.3(MSH2):c.199A>C (p.Met67Leu)
|
rs768824654
|
|
NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)
|
rs375561490
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1A>G (p.Met1Val)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1A>T (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1_8del (p.Met1fs)
|
rs1558451013
|
|
NM_000251.3(MSH2):c.2003C>G (p.Thr668Ser)
|
rs1667252681
|
|
NM_000251.3(MSH2):c.2003C>T (p.Thr668Ile)
|
|
|
NM_000251.3(MSH2):c.2004T>G (p.Thr668=)
|
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2005+3A>G
|
rs1060502014
|
|
NM_000251.3(MSH2):c.2005+3A>T
|
rs1060502014
|
|
NM_000251.3(MSH2):c.2005+4A>C
|
rs1337550192
|
|
NM_000251.3(MSH2):c.2005+6A>C
|
rs1060502018
|
|
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2006-12T>G
|
rs2104367663
|
|
NM_000251.3(MSH2):c.2006-15T>G
|
rs1057524452
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-8T>A
|
rs1553368970
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2006G>C (p.Gly669Ala)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2008C>A (p.Pro670Thr)
|
rs1558519495
|
|
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser)
|
rs1558519495
|
|
NM_000251.3(MSH2):c.2009C>A (p.Pro670His)
|
rs41294982
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
NM_000251.3(MSH2):c.200T>C (p.Met67Thr)
|
rs876660001
|
|
NM_000251.3(MSH2):c.200T>G (p.Met67Arg)
|
rs876660001
|
|
NM_000251.3(MSH2):c.2011A>C (p.Asn671His)
|
|
|
NM_000251.3(MSH2):c.2011A>G (p.Asn671Asp)
|
rs63751232
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
NM_000251.3(MSH2):c.2014A>G (p.Met672Val)
|
rs763690339
|
|
NM_000251.3(MSH2):c.2015T>G (p.Met672Arg)
|
rs786203126
|
|
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg)
|
rs1558519543
|
|
NM_000251.3(MSH2):c.2018G>C (p.Gly673Ala)
|
|
|
NM_000251.3(MSH2):c.201G>C (p.Met67Ile)
|
rs1442557180
|
|
NM_000251.3(MSH2):c.201_211+8dup
|
rs2103881979
|
|
NM_000251.3(MSH2):c.2023A>G (p.Lys675Glu)
|
rs1060501990
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)
|
rs1553369013
|
|
NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)
|
rs876659093
|
|
NM_000251.3(MSH2):c.2035A>G (p.Ile679Val)
|
|
|
NM_000251.3(MSH2):c.2039G>T (p.Arg680Leu)
|
rs1203462814
|
|
NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)
|
rs1064795914
|
|
NM_000251.3(MSH2):c.203G>T (p.Gly68Val)
|
rs1064795914
|
|
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
NM_000251.3(MSH2):c.2043A>T (p.Gln681His)
|
rs730881763
|
|
NM_000251.3(MSH2):c.2045C>T (p.Thr682Ile)
|
rs587779130
|
|
NM_000251.3(MSH2):c.2048G>A (p.Gly683Glu)
|
rs755920849
|
|
NM_000251.3(MSH2):c.2053A>T (p.Ile685Leu)
|
rs1060499876
|
|
NM_000251.3(MSH2):c.2054T>C (p.Ile685Thr)
|
rs1667303602
|
|
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)
|
rs989001878
|
|
NM_000251.3(MSH2):c.2062A>C (p.Met688Leu)
|
rs1573569964
|
|
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr)
|
rs2104371537
|
|
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2065G>T (p.Ala689Ser)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.2066C>T (p.Ala689Val)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.206C>G (p.Pro69Arg)
|
rs983555044
|
|
NM_000251.3(MSH2):c.206C>T (p.Pro69Leu)
|
rs983555044
|
|
NM_000251.3(MSH2):c.2070A>C (p.Gln690His)
|
rs1285666422
|
|
NM_000251.3(MSH2):c.2070A>T (p.Gln690His)
|
rs1285666422
|
|
NM_000251.3(MSH2):c.2071A>G (p.Ile691Val)
|
rs1667305232
|
|
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)
|
rs754824872
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg)
|
rs1558519728
|
|
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)
|
rs1114167857
|
|
NM_000251.3(MSH2):c.2083G>T (p.Val695Leu)
|
|
|
NM_000251.3(MSH2):c.2084T>C (p.Val695Ala)
|
rs1667306822
|
|
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala)
|
rs546201898
|
|
NM_000251.3(MSH2):c.208G>T (p.Ala70Ser)
|
rs587778522
|
|
NM_000251.3(MSH2):c.2096C>T (p.Ser699Leu)
|
rs587779136
|
|
NM_000251.3(MSH2):c.2096CAG[1] (p.Ala700del)
|
rs1667308001
|
|
NM_000251.3(MSH2):c.2098_2100delinsAAG (p.Ala700Lys)
|
rs1558519789
|
|
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu)
|
rs587782481
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
NM_000251.3(MSH2):c.209_211+11dup
|
|
|
NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)
|
rs530071578
|
|
NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)
|
rs530071578
|
|
NM_000251.3(MSH2):c.20A>T (p.Glu7Val)
|
rs530071578
|
|
NM_000251.3(MSH2):c.2102A>G (p.Glu701Gly)
|
|
|
NM_000251.3(MSH2):c.2104G>A (p.Val702Met)
|
|
|
NM_000251.3(MSH2):c.2104G>T (p.Val702Leu)
|
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
NM_000251.3(MSH2):c.2105T>G (p.Val702Gly)
|
rs587779137
|
|
NM_000251.3(MSH2):c.2108C>G (p.Ser703Cys)
|
rs267607999
|
|
NM_000251.3(MSH2):c.2108C>T (p.Ser703Phe)
|
rs267607999
|
|
NM_000251.3(MSH2):c.210A>C (p.Ala70=)
|
rs1230662279
|
|
NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg)
|
|
|
NM_000251.3(MSH2):c.211+12G>T
|
rs1672256808
|
|
NM_000251.3(MSH2):c.211+17C>T
|
rs759836033
|
|
NM_000251.3(MSH2):c.211+3G>A
|
rs778940305
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
NM_000251.3(MSH2):c.211+4A>G
|
rs1553348917
|
|
NM_000251.3(MSH2):c.211+5G>A
|
rs1060501999
|
|
NM_000251.3(MSH2):c.211+6G>C
|
rs1558452178
|
|
NM_000251.3(MSH2):c.211+8_211+9delinsTG
|
rs1553348920
|
|
NM_000251.3(MSH2):c.211+97_211+98delinsTC
|
|
|
NM_000251.3(MSH2):c.2113G>A (p.Val705Met)
|
rs1553369128
|
|
NM_000251.3(MSH2):c.2113G>C (p.Val705Leu)
|
rs1553369128
|
|
NM_000251.3(MSH2):c.2117A>G (p.Asp706Gly)
|
rs2104374493
|
|
NM_000251.3(MSH2):c.2119T>G (p.Cys707Gly)
|
rs1553369135
|
|
NM_000251.3(MSH2):c.212-1G>T
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-1_366+1dup
|
rs2103975062
|
|
NM_000251.3(MSH2):c.212-2del
|
rs1060502007
|
|
NM_000251.3(MSH2):c.212-2dup
|
|
|
NM_000251.3(MSH2):c.212-3_213del
|
rs1573436131
|
|
NM_000251.3(MSH2):c.212-485_212-468del
|
rs1213915943
|
|
NM_000251.3(MSH2):c.212-6T>A
|
rs1054214997
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
NM_000251.3(MSH2):c.2122A>C (p.Ile708Leu)
|
rs750084297
|
|
NM_000251.3(MSH2):c.2125T>G (p.Leu709Val)
|
rs1060502030
|
|
NM_000251.3(MSH2):c.2128G>A (p.Ala710Thr)
|
|
|
NM_000251.3(MSH2):c.2128G>C (p.Ala710Pro)
|
rs1558519878
|
|
NM_000251.3(MSH2):c.2128G>T (p.Ala710Ser)
|
rs1558519878
|
|
NM_000251.3(MSH2):c.2129C>T (p.Ala710Val)
|
rs373717132
|
|
NM_000251.3(MSH2):c.2131C>G (p.Arg711Gly)
|
rs63750636
|
|
NM_000251.3(MSH2):c.2133A>G (p.Arg711=)
|
rs1573570382
|
|
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)
|
rs1573570391
|
|
NM_000251.3(MSH2):c.2138G>T (p.Gly713Val)
|
rs753555602
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
NM_000251.3(MSH2):c.2140G>A (p.Ala714Thr)
|
rs2104375781
|
|
NM_000251.3(MSH2):c.2140G>T (p.Ala714Ser)
|
rs2104375781
|
|
NM_000251.3(MSH2):c.2143G>C (p.Gly715Arg)
|
rs1268745538
|
|
NM_000251.3(MSH2):c.2144G>A (p.Gly715Asp)
|
|
|
NM_000251.3(MSH2):c.2144G>C (p.Gly715Ala)
|
rs1558519942
|
|
NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly)
|
rs2104376248
|
|
NM_000251.3(MSH2):c.214G>A (p.Ala72Thr)
|
rs1558456993
|
|
NM_000251.3(MSH2):c.214G>T (p.Ala72Ser)
|
rs1558456993
|
|
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)
|
rs752883472
|
|
NM_000251.3(MSH2):c.2150G>C (p.Ser717Thr)
|
|
|
NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2153A>G (p.Gln718Arg)
|
rs1667312654
|
|
NM_000251.3(MSH2):c.2153A>T (p.Gln718Leu)
|
|
|
NM_000251.3(MSH2):c.2154A>C (p.Gln718His)
|
rs63750810
|
|
NM_000251.3(MSH2):c.2157G>T (p.Leu719Phe)
|
|
|
NM_000251.3(MSH2):c.2159_2161del (p.Lys720_Gly721delinsArg)
|
|
|
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly)
|
rs1558457009
|
|
NM_000251.3(MSH2):c.2161G>C (p.Gly721Arg)
|
|
|
NM_000251.3(MSH2):c.2162G>A (p.Gly721Glu)
|
|
|
NM_000251.3(MSH2):c.2162G>C (p.Gly721Ala)
|
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
NM_000251.3(MSH2):c.2168C>G (p.Ser723Cys)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2171C>G (p.Thr724Arg)
|
rs63751125
|
|
NM_000251.3(MSH2):c.2176A>G (p.Met726Val)
|
rs1114167847
|
|
NM_000251.3(MSH2):c.2176A>T (p.Met726Leu)
|
rs1114167847
|
|
NM_000251.3(MSH2):c.2177T>C (p.Met726Thr)
|
rs1667314656
|
|
NM_000251.3(MSH2):c.2179G>C (p.Ala727Pro)
|
rs104895026
|
|
NM_000251.3(MSH2):c.2179G>T (p.Ala727Ser)
|
rs104895026
|
|
NM_000251.3(MSH2):c.2180C>T (p.Ala727Val)
|
|
|
NM_000251.3(MSH2):c.2182G>A (p.Glu728Lys)
|
|
|
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)
|
rs1553369194
|
|
NM_000251.3(MSH2):c.2185A>G (p.Met729Val)
|
rs1558520059
|
|
NM_000251.3(MSH2):c.218A>G (p.Lys73Arg)
|
rs1444672793
|
|
NM_000251.3(MSH2):c.2190G>T (p.Leu730Phe)
|
rs864622370
|
|
NM_000251.3(MSH2):c.2195C>G (p.Thr732Ser)
|
rs730881765
|
|
NM_000251.3(MSH2):c.2195C>T (p.Thr732Ile)
|
rs730881765
|
|
NM_000251.3(MSH2):c.2198C>T (p.Ala733Val)
|
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
NM_000251.3(MSH2):c.2201C>T (p.Ser734Phe)
|
|
|
NM_000251.3(MSH2):c.2203A>C (p.Ile735Leu)
|
|
|
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val)
|
rs876658727
|
|
NM_000251.3(MSH2):c.2206C>T (p.Leu736Phe)
|
rs876658727
|
|
NM_000251.3(MSH2):c.2207T>C (p.Leu736Pro)
|
rs2104379356
|
|
NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly)
|
rs1573570754
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
NM_000251.3(MSH2):c.2210+3A>T
|
|
|
NM_000251.3(MSH2):c.2210+4A>G
|
|
|
NM_000251.3(MSH2):c.2210+4_2210+5delinsTT
|
rs2104379748
|
|
NM_000251.3(MSH2):c.2210+5G>A
|
|
|
NM_000251.3(MSH2):c.2210+5G>C
|
rs143873719
|
|
NM_000251.3(MSH2):c.2210+5G>T
|
|
|
NM_000251.3(MSH2):c.2210+6T>C
|
rs1357904200
|
|
NM_000251.3(MSH2):c.2211-18T>G
|
rs1028109019
|
|
NM_000251.3(MSH2):c.2211-3C>T
|
rs1667385443
|
|
NM_000251.3(MSH2):c.2212T>G (p.Ser738Ala)
|
|
|
NM_000251.3(MSH2):c.2213C>T (p.Ser738Phe)
|
|
|
NM_000251.3(MSH2):c.2215G>A (p.Ala739Thr)
|
rs1553369624
|
|
NM_000251.3(MSH2):c.2218A>G (p.Thr740Ala)
|
rs1553369627
|
|
NM_000251.3(MSH2):c.2219C>G (p.Thr740Ser)
|
rs1553369628
|
|
NM_000251.3(MSH2):c.2219C>T (p.Thr740Ile)
|
rs1553369628
|
|
NM_000251.3(MSH2):c.221A>C (p.Asn74Thr)
|
rs1114167869
|
|
NM_000251.3(MSH2):c.221A>G (p.Asn74Ser)
|
rs1114167869
|
|
NM_000251.3(MSH2):c.2221A>C (p.Lys741Gln)
|
rs1667386150
|
|
NM_000251.3(MSH2):c.2221A>G (p.Lys741Glu)
|
rs1667386150
|
|
NM_000251.3(MSH2):c.2224G>T (p.Asp742Tyr)
|
rs879254183
|
|
NM_000251.3(MSH2):c.2225A>T (p.Asp742Val)
|
rs1420354168
|
|
NM_000251.3(MSH2):c.2226T>A (p.Asp742Glu)
|
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)
|
rs1553350075
|
|
NM_000251.3(MSH2):c.2233A>G (p.Ile745Val)
|
rs1573573674
|
|
NM_000251.3(MSH2):c.2236A>G (p.Ile746Val)
|
|
|
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del)
|
rs587779142
|
|
NM_000251.3(MSH2):c.2237T>A (p.Ile746Asn)
|
|
|
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)
|
rs1553369652
|
|
NM_000251.3(MSH2):c.223C>G (p.Leu75Val)
|
rs1573436246
|
|
NM_000251.3(MSH2):c.2241A>G (p.Ile747Met)
|
rs1060504411
|
|
NM_000251.3(MSH2):c.2242G>A (p.Asp748Asn)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val)
|
rs1558521518
|
|
NM_000251.3(MSH2):c.2245_2259dup (p.Glu749_Gly753dup)
|
rs2104400429
|
|
NM_000251.3(MSH2):c.2252G>A (p.Gly751Glu)
|
rs1573573774
|
|
NM_000251.3(MSH2):c.2255G>A (p.Arg752Lys)
|
rs2104400733
|
|
NM_000251.3(MSH2):c.2258G>T (p.Gly753Val)
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2261C>T (p.Thr754Ile)
|
rs1553369680
|
|
NM_000251.3(MSH2):c.2263T>A (p.Ser755Thr)
|
rs2104401045
|
|
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)
|
rs750646335
|
|
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)
|
rs1553369686
|
|
NM_000251.3(MSH2):c.2269T>G (p.Tyr757Asp)
|
rs1553369693
|
|
NM_000251.3(MSH2):c.2270A>G (p.Tyr757Cys)
|
rs780448421
|
|
NM_000251.3(MSH2):c.2270A>T (p.Tyr757Phe)
|
rs780448421
|
|
NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn)
|
rs876658254
|
|
NM_000251.3(MSH2):c.2272G>C (p.Asp758His)
|
rs876658254
|
|
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)
|
rs876658254
|
|
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2279T>C (p.Phe760Ser)
|
rs1573573888
|
|
NM_000251.3(MSH2):c.227A>G (p.Gln76Arg)
|
rs1281311713
|
|
NM_000251.3(MSH2):c.2282G>A (p.Gly761Glu)
|
|
|
NM_000251.3(MSH2):c.2282G>C (p.Gly761Ala)
|
rs876659937
|
|
NM_000251.3(MSH2):c.2282G>T (p.Gly761Val)
|
rs876659937
|
|
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser)
|
rs1558521698
|
|
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)
|
rs144412585
|
|
NM_000251.3(MSH2):c.2290T>C (p.Trp764Arg)
|
rs879254058
|
|
NM_000251.3(MSH2):c.2290T>G (p.Trp764Gly)
|
rs879254058
|
|
NM_000251.3(MSH2):c.2292G>C (p.Trp764Cys)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)
|
rs63750368
|
|
NM_000251.3(MSH2):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000251.3(MSH2):c.2294C>G (p.Ala765Gly)
|
rs1261458082
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
|
NM_000251.3(MSH2):c.229A>G (p.Ser77Gly)
|
|
|
NM_000251.3(MSH2):c.22A>G (p.Thr8Ala)
|
|
|
NM_000251.3(MSH2):c.22A>T (p.Thr8Ser)
|
rs876660332
|
|
NM_000251.3(MSH2):c.2303A>G (p.Glu768Gly)
|
rs1553369720
|
|
NM_000251.3(MSH2):c.2303A>T (p.Glu768Val)
|
rs1553369720
|
|
NM_000251.3(MSH2):c.2305T>C (p.Tyr769His)
|
rs1114167859
|
|
NM_000251.3(MSH2):c.230G>A (p.Ser77Asn)
|
|
|
NM_000251.3(MSH2):c.2311G>A (p.Ala771Thr)
|
rs1667393512
|
|
NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)
|
|
|
NM_000251.3(MSH2):c.2314A>G (p.Thr772Ala)
|
rs1573574121
|
|
NM_000251.3(MSH2):c.2315C>A (p.Thr772Lys)
|
rs1263286428
|
|
NM_000251.3(MSH2):c.2315C>T (p.Thr772Ile)
|
rs1263286428
|
|
NM_000251.3(MSH2):c.2318A>T (p.Lys773Met)
|
|
|
NM_000251.3(MSH2):c.231T>A (p.Ser77Arg)
|
|
|
NM_000251.3(MSH2):c.231T>G (p.Ser77Arg)
|
rs1553350080
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
NM_000251.3(MSH2):c.2321T>G (p.Ile774Ser)
|
rs878853811
|
|
NM_000251.3(MSH2):c.2322T>G (p.Ile774Met)
|
rs56397910
|
|
NM_000251.3(MSH2):c.2323G>C (p.Gly775Arg)
|
|
|
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)
|
rs1558521842
|
|
NM_000251.3(MSH2):c.232G>C (p.Val78Leu)
|
|
|
NM_000251.3(MSH2):c.2333G>A (p.Cys778Tyr)
|
rs1667394664
|
|
NM_000251.3(MSH2):c.2334C>G (p.Cys778Trp)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335A>C (p.Met779Leu)
|
rs1114167843
|
|
NM_000251.3(MSH2):c.2335A>G (p.Met779Val)
|
rs1114167843
|
|
NM_000251.3(MSH2):c.2335A>T (p.Met779Leu)
|
rs1114167843
|
|
NM_000251.3(MSH2):c.2336T>G (p.Met779Arg)
|
|
|
NM_000251.3(MSH2):c.233T>C (p.Val78Ala)
|
rs892915951
|
|
NM_000251.3(MSH2):c.2341G>A (p.Ala781Thr)
|
rs1553369742
|
|
NM_000251.3(MSH2):c.2344A>G (p.Thr782Ala)
|
|
|
NM_000251.3(MSH2):c.2345C>T (p.Thr782Ile)
|
|
|
NM_000251.3(MSH2):c.2347C>G (p.His783Asp)
|
rs1553369748
|
|
NM_000251.3(MSH2):c.2347C>T (p.His783Tyr)
|
rs1553369748
|
|
NM_000251.3(MSH2):c.2350T>C (p.Phe784Leu)
|
rs1553369750
|
|
NM_000251.3(MSH2):c.2351T>G (p.Phe784Cys)
|
rs1553369756
|
|
NM_000251.3(MSH2):c.2352T>G (p.Phe784Leu)
|
rs1558521908
|
|
NM_000251.3(MSH2):c.2353C>T (p.His785Tyr)
|
rs1553369759
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
NM_000251.3(MSH2):c.235G>A (p.Val79Met)
|
rs1573436327
|
|
NM_000251.3(MSH2):c.2360T>C (p.Leu787Pro)
|
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2365G>A (p.Ala789Thr)
|
rs1553369769
|
|
NM_000251.3(MSH2):c.2365G>T (p.Ala789Ser)
|
rs1553369769
|
|
NM_000251.3(MSH2):c.2366C>A (p.Ala789Asp)
|
|
|
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)
|
rs876660292
|
|
NM_000251.3(MSH2):c.2366C>T (p.Ala789Val)
|
rs876660292
|
|
NM_000251.3(MSH2):c.2367_2368delinsTC (p.Ala789_Leu790=)
|
|
|
NM_000251.3(MSH2):c.236T>G (p.Val79Gly)
|
rs2103976738
|
|
NM_000251.3(MSH2):c.2372C>T (p.Ala791Val)
|
rs1558521964
|
|
NM_000251.3(MSH2):c.2374A>G (p.Asn792Asp)
|
|
|
NM_000251.3(MSH2):c.2374A>T (p.Asn792Tyr)
|
rs2104406360
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2375A>T (p.Asn792Ile)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2377C>A (p.Gln793Lys)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2378A>C (p.Gln793Pro)
|
rs876660291
|
|
NM_000251.3(MSH2):c.2378A>G (p.Gln793Arg)
|
rs876660291
|
|
NM_000251.3(MSH2):c.2379G>C (p.Gln793His)
|
rs767520406
|
|
NM_000251.3(MSH2):c.237_238delinsAG (p.Leu80Val)
|
|
|
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)
|
rs1553369778
|
|
NM_000251.3(MSH2):c.2380A>G (p.Ile794Val)
|
|
|
NM_000251.3(MSH2):c.2380A>T (p.Ile794Leu)
|
rs1553369778
|
|
NM_000251.3(MSH2):c.2381T>A (p.Ile794Lys)
|
rs1553369781
|
|
NM_000251.3(MSH2):c.2383C>A (p.Pro795Thr)
|
rs2104406872
|
|
NM_000251.3(MSH2):c.2384C>A (p.Pro795Gln)
|
rs1558521999
|
|
NM_000251.3(MSH2):c.2386A>T (p.Thr796Ser)
|
rs876660738
|
|
NM_000251.3(MSH2):c.2387C>A (p.Thr796Asn)
|
rs863224641
|
|
NM_000251.3(MSH2):c.238C>G (p.Leu80Val)
|
rs1672550932
|
|
NM_000251.3(MSH2):c.238C>T (p.Leu80Phe)
|
|
|
NM_000251.3(MSH2):c.2392AAT[1] (p.Asn799del)
|
rs1573574468
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
NM_000251.3(MSH2):c.2394T>A (p.Asn798Lys)
|
rs750498919
|
|
NM_000251.3(MSH2):c.2397T>A (p.Asn799Lys)
|
rs368988823
|
|
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys)
|
rs17217716
|
|
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)
|
rs17217716
|
|
NM_000251.3(MSH2):c.2401C>A (p.His801Asn)
|
|
|
NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)
|
rs1573574512
|
|
NM_000251.3(MSH2):c.2402A>G (p.His801Arg)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2402A>T (p.His801Leu)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2404G>T (p.Val802Phe)
|
|
|
NM_000251.3(MSH2):c.2405T>C (p.Val802Ala)
|
|
|
NM_000251.3(MSH2):c.2408C>T (p.Thr803Ile)
|
rs786202362
|
|
NM_000251.3(MSH2):c.2410G>A (p.Ala804Thr)
|
rs1060502005
|
|
NM_000251.3(MSH2):c.2413C>G (p.Leu805Val)
|
rs779182536
|
|
NM_000251.3(MSH2):c.2414T>G (p.Leu805Arg)
|
rs1667400871
|
|
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)
|
rs758889557
|
|
NM_000251.3(MSH2):c.2419A>G (p.Thr807Ala)
|
rs1667401329
|
|
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)
|
rs41295294
|
|
NM_000251.3(MSH2):c.2420C>T (p.Thr807Ile)
|
rs41295294
|
|
NM_000251.3(MSH2):c.2426A>C (p.Glu809Ala)
|
rs1374788237
|
|
NM_000251.3(MSH2):c.2429C>A (p.Thr810Asn)
|
rs1667402259
|
|
NM_000251.3(MSH2):c.2429C>T (p.Thr810Ile)
|
rs1667402259
|
|
NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)
|
rs1064793491
|
|
NM_000251.3(MSH2):c.2433_2435del (p.Leu811_Thr812delinsPhe)
|
rs1667402513
|
|
NM_000251.3(MSH2):c.2434A>T (p.Thr812Ser)
|
|
|
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)
|
rs1553369826
|
|
NM_000251.3(MSH2):c.2435C>T (p.Thr812Ile)
|
rs1553369826
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.2439G>T (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.2440C>A (p.Leu814Ile)
|
rs1667403044
|
|
NM_000251.3(MSH2):c.2443T>C (p.Tyr815His)
|
rs1424156408
|
|
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys)
|
rs1667403267
|
|
NM_000251.3(MSH2):c.2446C>G (p.Gln816Glu)
|
rs63749917
|
|
NM_000251.3(MSH2):c.2448G>A (p.Gln816=)
|
rs1573574712
|
|
NM_000251.3(MSH2):c.2453A>C (p.Lys818Thr)
|
rs2104410075
|
|
NM_000251.3(MSH2):c.2453A>G (p.Lys818Arg)
|
|
|
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu)
|
rs1369739730
|
|
NM_000251.3(MSH2):c.2458+3A>C
|
rs761709497
|
|
NM_000251.3(MSH2):c.2458+3A>G
|
rs761709497
|
|
NM_000251.3(MSH2):c.2458+4T>G
|
rs1038735071
|
|
NM_000251.3(MSH2):c.2458+5G>A
|
rs1667404666
|
|
NM_000251.3(MSH2):c.2458G>C (p.Gly820Arg)
|
|
|
NM_000251.3(MSH2):c.2458G>T (p.Gly820Cys)
|
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-3T>G
|
rs587781988
|
|
NM_000251.3(MSH2):c.2459-5_2459-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCCCAAATTTCTT
|
|
|
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)
|
rs794729229
|
|
NM_000251.3(MSH2):c.2459G>C (p.Gly820Ala)
|
rs794729229
|
|
NM_000251.3(MSH2):c.245A>G (p.Lys82Arg)
|
rs1672551774
|
|
NM_000251.3(MSH2):c.2461G>A (p.Val821Ile)
|
rs1573578366
|
|
NM_000251.3(MSH2):c.2461G>C (p.Val821Leu)
|
rs1573578366
|
|
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)
|
rs1573578373
|
|
NM_000251.3(MSH2):c.2463C>T (p.Val821=)
|
rs886056136
|
|
NM_000251.3(MSH2):c.2465G>A (p.Cys822Tyr)
|
|
|
NM_000251.3(MSH2):c.2466T>G (p.Cys822Trp)
|
rs63749846
|
|
NM_000251.3(MSH2):c.2467G>A (p.Asp823Asn)
|
rs2104434833
|
|
NM_000251.3(MSH2):c.2468A>T (p.Asp823Val)
|
|
|
NM_000251.3(MSH2):c.2469T>A (p.Asp823Glu)
|
|
|
NM_000251.3(MSH2):c.2469T>G (p.Asp823Glu)
|
rs1667490450
|
|
NM_000251.3(MSH2):c.246A>T (p.Lys82Asn)
|
rs1553350100
|
|
NM_000251.3(MSH2):c.2470C>G (p.Gln824Glu)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2471A>G (p.Gln824Arg)
|
|
|
NM_000251.3(MSH2):c.2473A>G (p.Ser825Gly)
|
rs1553370314
|
|
NM_000251.3(MSH2):c.2477T>C (p.Phe826Ser)
|
|
|
NM_000251.3(MSH2):c.2479G>A (p.Gly827Arg)
|
rs63750478
|
|
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg)
|
rs63750478
|
|
NM_000251.3(MSH2):c.247A>C (p.Met83Leu)
|
rs766196837
|
|
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu)
|
rs2104435371
|
|
NM_000251.3(MSH2):c.2482A>G (p.Ile828Val)
|
rs2104435467
|
|
NM_000251.3(MSH2):c.2483T>G (p.Ile828Ser)
|
rs753067992
|
|
NM_000251.3(MSH2):c.2488G>A (p.Val830Ile)
|
|
|
NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)
|
|
|
NM_000251.3(MSH2):c.2489T>C (p.Val830Ala)
|
rs1553370328
|
|
NM_000251.3(MSH2):c.248T>C (p.Met83Thr)
|
rs1573436408
|
|
NM_000251.3(MSH2):c.248T>G (p.Met83Arg)
|
|
|
NM_000251.3(MSH2):c.2491G>C (p.Ala831Pro)
|
rs1573578511
|
|
NM_000251.3(MSH2):c.2491G>T (p.Ala831Ser)
|
rs1573578511
|
|
NM_000251.3(MSH2):c.2494G>A (p.Glu832Lys)
|
rs863225396
|
|
NM_000251.3(MSH2):c.2497C>G (p.Leu833Val)
|
|
|
NM_000251.3(MSH2):c.2497C>T (p.Leu833Phe)
|
rs1667492746
|
|
NM_000251.3(MSH2):c.2498T>A (p.Leu833His)
|
rs1573578539
|
|
NM_000251.3(MSH2):c.249G>A (p.Met83Ile)
|
|
|
NM_000251.3(MSH2):c.249G>C (p.Met83Ile)
|
rs1672552199
|
|
NM_000251.3(MSH2):c.2501C>G (p.Ala834Gly)
|
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
NM_000251.3(MSH2):c.2504A>T (p.Asn835Ile)
|
|
|
NM_000251.3(MSH2):c.2506T>A (p.Phe836Ile)
|
rs1553370345
|
|
NM_000251.3(MSH2):c.2508C>G (p.Phe836Leu)
|
|
|
NM_000251.3(MSH2):c.2509C>A (p.Pro837Thr)
|
|
|
NM_000251.3(MSH2):c.2509C>T (p.Pro837Ser)
|
rs1198289499
|
|
NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)
|
rs1573436418
|
|
NM_000251.3(MSH2):c.2513A>C (p.Lys838Thr)
|
rs2104436776
|
|
NM_000251.3(MSH2):c.2515C>A (p.His839Asn)
|
|
|
NM_000251.3(MSH2):c.2515C>G (p.His839Asp)
|
rs876659466
|
|
NM_000251.3(MSH2):c.2515C>T (p.His839Tyr)
|
|
|
NM_000251.3(MSH2):c.2516A>T (p.His839Leu)
|
rs63750027
|
|
NM_000251.3(MSH2):c.2518G>A (p.Val840Ile)
|
rs878853812
|
|
NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)
|
rs1064794561
|
|
NM_000251.3(MSH2):c.251A>G (p.Asn84Ser)
|
rs2103977605
|
|
NM_000251.3(MSH2):c.251A>T (p.Asn84Ile)
|
rs2103977605
|
|
NM_000251.3(MSH2):c.2521A>G (p.Ile841Val)
|
rs1573578666
|
|
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)
|
rs1275767178
|
|
NM_000251.3(MSH2):c.2523A>G (p.Ile841Met)
|
rs922747063
|
|
NM_000251.3(MSH2):c.2524G>A (p.Glu842Lys)
|
rs2104437384
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
NM_000251.3(MSH2):c.2527T>C (p.Cys843Arg)
|
rs1667495338
|
|
NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly)
|
rs1667495338
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2536_2541del (p.Gln846_Lys847del)
|
rs879254133
|
|
NM_000251.3(MSH2):c.253T>C (p.Phe85Leu)
|
rs2103977796
|
|
NM_000251.3(MSH2):c.2541A>T (p.Lys847Asn)
|
|
|
NM_000251.3(MSH2):c.2543C>T (p.Ala848Val)
|
rs1667496559
|
|
NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)
|
rs1667497027
|
|
NM_000251.3(MSH2):c.254T>C (p.Phe85Ser)
|
rs2103977842
|
|
NM_000251.3(MSH2):c.2551C>G (p.Leu851Val)
|
rs267608015
|
|
NM_000251.3(MSH2):c.2551C>T (p.Leu851Phe)
|
rs267608015
|
|
NM_000251.3(MSH2):c.2553T>G (p.Leu851=)
|
rs1553370386
|
|
NM_000251.3(MSH2):c.2554G>A (p.Glu852Lys)
|
rs587779966
|
|
NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del)
|
rs766906365
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
NM_000251.3(MSH2):c.2563C>G (p.Gln855Glu)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.2566T>C (p.Tyr856His)
|
rs786203818
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
NM_000251.3(MSH2):c.2567A>T (p.Tyr856Phe)
|
rs587779150
|
|
NM_000251.3(MSH2):c.2570T>C (p.Ile857Thr)
|
rs2104439312
|
|
NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)
|
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2576A>G (p.Glu859Gly)
|
rs1553370422
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2578T>A (p.Ser860Thr)
|
|
|
NM_000251.3(MSH2):c.257A>G (p.Glu86Gly)
|
rs1573436455
|
|
NM_000251.3(MSH2):c.2582A>C (p.Gln861Pro)
|
rs1313098392
|
|
NM_000251.3(MSH2):c.2584G>A (p.Gly862Arg)
|
rs876660297
|
|
NM_000251.3(MSH2):c.2585G>T (p.Gly862Val)
|
rs1216558739
|
|
NM_000251.3(MSH2):c.2590G>A (p.Asp864Asn)
|
rs1553370439
|
|
NM_000251.3(MSH2):c.2590_2592del (p.Asp864del)
|
rs1667501219
|
|
NM_000251.3(MSH2):c.2591A>C (p.Asp864Ala)
|
rs863224642
|
|
NM_000251.3(MSH2):c.2591A>T (p.Asp864Val)
|
|
|
NM_000251.3(MSH2):c.2594T>A (p.Ile865Asn)
|
rs549759248
|
|
NM_000251.3(MSH2):c.2595C>G (p.Ile865Met)
|
|
|
NM_000251.3(MSH2):c.2595_2597del (p.Ile865del)
|
rs759912716
|
|
NM_000251.3(MSH2):c.2596A>T (p.Met866Leu)
|
rs1553370453
|
|
NM_000251.3(MSH2):c.25C>G (p.Leu9Val)
|
rs1672231681
|
|
NM_000251.3(MSH2):c.2600A>T (p.Glu867Val)
|
|
|
NM_000251.3(MSH2):c.2601A>C (p.Glu867Asp)
|
|
|
NM_000251.3(MSH2):c.2602C>G (p.Pro868Ala)
|
rs63751400
|
|
NM_000251.3(MSH2):c.2603C>T (p.Pro868Leu)
|
rs1458784088
|
|
NM_000251.3(MSH2):c.2606C>G (p.Ala869Gly)
|
|
|
NM_000251.3(MSH2):c.2606C>T (p.Ala869Val)
|
rs730881772
|
|
NM_000251.3(MSH2):c.2608G>A (p.Ala870Thr)
|
|
|
NM_000251.3(MSH2):c.2608_2609delinsAA (p.Ala870Lys)
|
|
|
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)
|
rs587781447
|
|
NM_000251.3(MSH2):c.260C>T (p.Ser87Phe)
|
rs587781447
|
|
NM_000251.3(MSH2):c.2611A>G (p.Lys871Glu)
|
rs1667503359
|
|
NM_000251.3(MSH2):c.2613G>T (p.Lys871Asn)
|
rs1156823520
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
NM_000251.3(MSH2):c.2617T>C (p.Cys873Arg)
|
rs63750795
|
|
NM_000251.3(MSH2):c.2619C>G (p.Cys873Trp)
|
rs2104441416
|
|
NM_000251.3(MSH2):c.2620T>C (p.Tyr874His)
|
|
|
NM_000251.3(MSH2):c.2620T>G (p.Tyr874Asp)
|
rs879254152
|
|
NM_000251.3(MSH2):c.2626G>A (p.Glu876Lys)
|
|
|
NM_000251.3(MSH2):c.2627A>G (p.Glu876Gly)
|
rs1553370474
|
|
NM_000251.3(MSH2):c.2628A>T (p.Glu876Asp)
|
rs1271303836
|
|
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys)
|
rs1573579234
|
|
NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)
|
rs749543152
|
|
NM_000251.3(MSH2):c.2633A>G (p.Glu878Gly)
|
rs1573579250
|
|
NM_000251.3(MSH2):c.2634+4T>C
|
rs1553370486
|
|
NM_000251.3(MSH2):c.2634+4T>G
|
rs1553370486
|
|
NM_000251.3(MSH2):c.2634+5del
|
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-10T>C
|
|
|
NM_000251.3(MSH2):c.2635-12C>G
|
rs1436357692
|
|
NM_000251.3(MSH2):c.2635-16T>G
|
rs2104458734
|
|
NM_000251.3(MSH2):c.2635-6T>A
|
|
|
NM_000251.3(MSH2):c.2635-6T>C
|
|
|
NM_000251.3(MSH2):c.2635C>A (p.Gln879Lys)
|
rs63751469
|
|
NM_000251.3(MSH2):c.2637A>G (p.Gln879=)
|
rs1553370836
|
|
NM_000251.3(MSH2):c.2639G>C (p.Gly880Ala)
|
rs1667576915
|
|
NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)
|
rs1672553516
|
|
NM_000251.3(MSH2):c.2640T>A (p.Gly880=)
|
|
|
NM_000251.3(MSH2):c.2641G>C (p.Glu881Gln)
|
rs876660450
|
|
NM_000251.3(MSH2):c.2648T>C (p.Ile883Thr)
|
rs1064796682
|
|
NM_000251.3(MSH2):c.2650A>G (p.Ile884Val)
|
rs774732579
|
|
NM_000251.3(MSH2):c.2653C>G (p.Gln885Glu)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2654A>G (p.Gln885Arg)
|
rs2104459645
|
|
NM_000251.3(MSH2):c.2655G>C (p.Gln885His)
|
rs1057521018
|
|
NM_000251.3(MSH2):c.265G>C (p.Val89Leu)
|
rs587782586
|
|
NM_000251.3(MSH2):c.2661C>A (p.Phe887Leu)
|
rs1290935051
|
|
NM_000251.3(MSH2):c.2662C>G (p.Leu888Val)
|
rs1667578174
|
|
NM_000251.3(MSH2):c.2666C>T (p.Ser889Phe)
|
rs1553370845
|
|
NM_000251.3(MSH2):c.2668A>G (p.Lys890Glu)
|
rs1114167880
|
|
NM_000251.3(MSH2):c.266T>G (p.Val89Gly)
|
rs876659747
|
|
NM_000251.3(MSH2):c.2670G>C (p.Lys890Asn)
|
|
|
NM_000251.3(MSH2):c.2680A>C (p.Met894Leu)
|
rs1558526023
|
|
NM_000251.3(MSH2):c.2680A>T (p.Met894Leu)
|
rs1558526023
|
|
NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)
|
rs1558526026
|
|
NM_000251.3(MSH2):c.2682G>A (p.Met894Ile)
|
rs1573582532
|
|
NM_000251.3(MSH2):c.2683C>G (p.Pro895Ala)
|
|
|
NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)
|
rs786203553
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
NM_000251.3(MSH2):c.2686T>G (p.Phe896Val)
|
rs1558526036
|
|
NM_000251.3(MSH2):c.2690C>G (p.Thr897Ser)
|
rs2104460600
|
|
NM_000251.3(MSH2):c.2691T>A (p.Thr897=)
|
rs148653184
|
|
NM_000251.3(MSH2):c.2691dup (p.Glu898Ter)
|
rs2104460657
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
NM_000251.3(MSH2):c.2698T>A (p.Ser900Thr)
|
rs2104460815
|
|
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)
|
rs878853814
|
|
NM_000251.3(MSH2):c.269A>G (p.Lys90Arg)
|
rs2103978884
|
|
NM_000251.3(MSH2):c.26T>G (p.Leu9Arg)
|
rs1573422744
|
|
NM_000251.3(MSH2):c.2701G>C (p.Glu901Gln)
|
rs2104460893
|
|
NM_000251.3(MSH2):c.2701GAA[1] (p.Glu902del)
|
|
|
NM_000251.3(MSH2):c.2704G>T (p.Glu902Ter)
|
rs867671639
|
|
NM_000251.3(MSH2):c.2705A>G (p.Glu902Gly)
|
rs1553370856
|
|
NM_000251.3(MSH2):c.2706A>C (p.Glu902Asp)
|
rs876660824
|
|
NM_000251.3(MSH2):c.2708A>G (p.Asn903Ser)
|
rs876658389
|
|
NM_000251.3(MSH2):c.2708A>T (p.Asn903Ile)
|
|
|
NM_000251.3(MSH2):c.2710A>T (p.Ile904Phe)
|
rs1463743654
|
|
NM_000251.3(MSH2):c.2711T>A (p.Ile904Asn)
|
rs1573582638
|
|
NM_000251.3(MSH2):c.2711_2713del (p.Ile904del)
|
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)
|
rs1558457163
|
|
NM_000251.3(MSH2):c.2723T>A (p.Leu908Ter)
|
rs2104461361
|
|
NM_000251.3(MSH2):c.2725A>C (p.Lys909Gln)
|
rs879254253
|
|
NM_000251.3(MSH2):c.2725A>G (p.Lys909Glu)
|
rs879254253
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
NM_000251.3(MSH2):c.2728C>G (p.Gln910Glu)
|
rs775130557
|
|
NM_000251.3(MSH2):c.2729A>G (p.Gln910Arg)
|
rs1553370878
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
|
|
NM_000251.3(MSH2):c.272A>G (p.Asp91Gly)
|
rs876660914
|
|
NM_000251.3(MSH2):c.272A>T (p.Asp91Val)
|
rs876660914
|
|
NM_000251.3(MSH2):c.2734A>C (p.Lys912Gln)
|
rs1060501998
|
|
NM_000251.3(MSH2):c.2734A>G (p.Lys912Glu)
|
rs1060501998
|
|
NM_000251.3(MSH2):c.2735_2736del (p.Lys912fs)
|
rs1667581727
|
|
NM_000251.3(MSH2):c.2736del (p.Ala913fs)
|
rs1667581727
|
|
NM_000251.3(MSH2):c.2737G>T (p.Ala913Ser)
|
|
|
NM_000251.3(MSH2):c.2738C>G (p.Ala913Gly)
|
rs1060502026
|
|
NM_000251.3(MSH2):c.2738C>T (p.Ala913Val)
|
rs1060502026
|
|
NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter)
|
rs267608024
|
|
NM_000251.3(MSH2):c.2741A>G (p.Glu914Gly)
|
rs1558526149
|
|
NM_000251.3(MSH2):c.2743G>A (p.Val915Ile)
|
|
|
NM_000251.3(MSH2):c.2743G>C (p.Val915Leu)
|
rs1553370884
|
|
NM_000251.3(MSH2):c.2743G>T (p.Val915Leu)
|
rs1553370884
|
|
NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)
|
rs1399941088
|
|
NM_000251.3(MSH2):c.2746A>G (p.Ile916Val)
|
rs751216225
|
|
NM_000251.3(MSH2):c.2746A>T (p.Ile916Leu)
|
rs751216225
|
|
NM_000251.3(MSH2):c.2748A>G (p.Ile916Met)
|
rs2104462090
|
|
NM_000251.3(MSH2):c.274C>A (p.Leu92Ile)
|
rs587779154
|
|
NM_000251.3(MSH2):c.274C>T (p.Leu92Phe)
|
rs587779154
|
|
NM_000251.3(MSH2):c.2750C>G (p.Ala917Gly)
|
|
|
NM_000251.3(MSH2):c.2750del (p.Ala917fs)
|
rs2104462170
|
|
NM_000251.3(MSH2):c.2753A>G (p.Lys918Arg)
|
|
|
NM_000251.3(MSH2):c.2754G>C (p.Lys918Asn)
|
rs1553370893
|
|
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn)
|
rs1553370893
|
|
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp)
|
rs1573582795
|
|
NM_000251.3(MSH2):c.2756A>G (p.Asn919Ser)
|
|
|
NM_000251.3(MSH2):c.2756A>T (p.Asn919Ile)
|
rs1667583110
|
|
NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del)
|
rs1573582800
|
|
NM_000251.3(MSH2):c.2759A>G (p.Asn920Ser)
|
rs1667583292
|
|
NM_000251.3(MSH2):c.275T>C (p.Leu92Pro)
|
rs1387584638
|
|
NM_000251.3(MSH2):c.2763C>G (p.Ser921Arg)
|
|
|
NM_000251.3(MSH2):c.2765T>C (p.Phe922Ser)
|
rs1667583417
|
|
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)
|
rs55859129
|
|
NM_000251.3(MSH2):c.2766_2767inv (p.Val923Ile)
|
|
|
NM_000251.3(MSH2):c.2768T>C (p.Val923Ala)
|
rs146421227
|
|
NM_000251.3(MSH2):c.2772T>A (p.Asn924Lys)
|
|
|
NM_000251.3(MSH2):c.2776A>C (p.Ile926Leu)
|
rs995312903
|
|
NM_000251.3(MSH2):c.2776A>G (p.Ile926Val)
|
rs995312903
|
|
NM_000251.3(MSH2):c.2777T>C (p.Ile926Thr)
|
|
|
NM_000251.3(MSH2):c.2777T>G (p.Ile926Ser)
|
|
|
NM_000251.3(MSH2):c.2779A>G (p.Ile927Val)
|
|
|
NM_000251.3(MSH2):c.277C>G (p.Leu93Val)
|
rs63751429
|
|
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)
|
rs63751429
|
|
NM_000251.3(MSH2):c.2780T>C (p.Ile927Thr)
|
rs1667584347
|
|
NM_000251.3(MSH2):c.2781T>G (p.Ile927Met)
|
rs1667584495
|
|
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro)
|
rs587781852
|
|
NM_000251.3(MSH2):c.2782T>G (p.Ser928Ala)
|
rs587781852
|
|
NM_000251.3(MSH2):c.2786G>C (p.Arg929Pro)
|
rs587779967
|
|
NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)
|
rs587779967
|
|
NM_000251.3(MSH2):c.2789T>A (p.Ile930Lys)
|
rs587783054
|
|
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)
|
rs587779155
|
|
NM_000251.3(MSH2):c.2792A>G (p.Lys931Arg)
|
rs267608023
|
|
NM_000251.3(MSH2):c.2792_2793del (p.Lys931fs)
|
rs1667585271
|
|
NM_000251.3(MSH2):c.2797dup (p.Thr933fs)
|
rs587779156
|
|
NM_000251.3(MSH2):c.2798C>G (p.Thr933Ser)
|
rs587779968
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.2803T>C (p.Ter935Arg)
|
rs1573582999
|
|
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu)
|
rs876658335
|
|
NM_000251.3(MSH2):c.282G>A (p.Leu94=)
|
rs752387348
|
|
NM_000251.3(MSH2):c.283G>A (p.Val95Ile)
|
rs1323488764
|
|
NM_000251.3(MSH2):c.284T>C (p.Val95Ala)
|
rs2103979939
|
|
NM_000251.3(MSH2):c.287G>T (p.Arg96Leu)
|
rs63750002
|
|
NM_000251.3(MSH2):c.289C>A (p.Gln97Lys)
|
|
|
NM_000251.3(MSH2):c.289C>G (p.Gln97Glu)
|
rs63750970
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
NM_000251.3(MSH2):c.290A>C (p.Gln97Pro)
|
rs1558457235
|
|
NM_000251.3(MSH2):c.290A>G (p.Gln97Arg)
|
|
|
NM_000251.3(MSH2):c.291G>T (p.Gln97His)
|
rs1064794792
|
|
NM_000251.3(MSH2):c.297A>C (p.Arg99Ser)
|
rs587782283
|
|
NM_000251.3(MSH2):c.297A>T (p.Arg99Ser)
|
rs587782283
|
|
NM_000251.3(MSH2):c.298G>A (p.Val100Ile)
|
rs1573436784
|
|
NM_000251.3(MSH2):c.298G>T (p.Val100Phe)
|
rs1573436784
|
|
NM_000251.3(MSH2):c.299T>C (p.Val100Ala)
|
rs2103981191
|
|
NM_000251.3(MSH2):c.2T>A (p.Met1Lys)
|
|
|
NM_000251.3(MSH2):c.2T>C (p.Met1Thr)
|
rs876658825
|
|
NM_000251.3(MSH2):c.2T>G (p.Met1Arg)
|
rs876658825
|
|
NM_000251.3(MSH2):c.301G>C (p.Glu101Gln)
|
rs63750318
|
|
NM_000251.3(MSH2):c.302A>G (p.Glu101Gly)
|
rs1573436801
|
|
NM_000251.3(MSH2):c.303A>C (p.Glu101Asp)
|
|
|
NM_000251.3(MSH2):c.307T>C (p.Tyr103His)
|
rs587780688
|
|
NM_000251.3(MSH2):c.308A>C (p.Tyr103Ser)
|
rs63751173
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
NM_000251.3(MSH2):c.308A>T (p.Tyr103Phe)
|
rs63751173
|
|
NM_000251.3(MSH2):c.311A>G (p.Lys104Arg)
|
|
|
NM_000251.3(MSH2):c.312G>C (p.Lys104Asn)
|
rs372972328
|
|
NM_000251.3(MSH2):c.314A>G (p.Asn105Ser)
|
rs1558457336
|
|
NM_000251.3(MSH2):c.317G>C (p.Arg106Thr)
|
rs41295286
|
|
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)
|
rs876658935
|
|
NM_000251.3(MSH2):c.320C>T (p.Ala107Val)
|
rs876658935
|
|
NM_000251.3(MSH2):c.322G>A (p.Gly108Arg)
|
rs2103982656
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
NM_000251.3(MSH2):c.32T>C (p.Leu11Ser)
|
rs2103868483
|
|
NM_000251.3(MSH2):c.331G>A (p.Ala111Thr)
|
rs1553350215
|
|
NM_000251.3(MSH2):c.331G>T (p.Ala111Ser)
|
rs1553350215
|
|
NM_000251.3(MSH2):c.332C>G (p.Ala111Gly)
|
rs1672561306
|
|
NM_000251.3(MSH2):c.332C>T (p.Ala111Val)
|
rs1672561306
|
|
NM_000251.3(MSH2):c.335C>T (p.Ser112Phe)
|
rs769215192
|
|
NM_000251.3(MSH2):c.337A>C (p.Lys113Gln)
|
|
|
NM_000251.3(MSH2):c.337A>G (p.Lys113Glu)
|
rs1573437064
|
|
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)
|
rs1672561938
|
|
NM_000251.3(MSH2):c.339G>C (p.Lys113Asn)
|
rs35898375
|
|
NM_000251.3(MSH2):c.343A>T (p.Asn115Tyr)
|
rs1553350228
|
|
NM_000251.3(MSH2):c.347A>T (p.Asp116Val)
|
rs1035655051
|
|
NM_000251.3(MSH2):c.348T>A (p.Asp116Glu)
|
|
|
NM_000251.3(MSH2):c.349T>C (p.Trp117Arg)
|
|
|
NM_000251.3(MSH2):c.349T>G (p.Trp117Gly)
|
rs1553350243
|
|
NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)
|
rs917968387
|
|
NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)
|
rs917968387
|
|
NM_000251.3(MSH2):c.350G>T (p.Trp117Leu)
|
rs786202083
|
|
NM_000251.3(MSH2):c.357G>T (p.Leu119Phe)
|
|
|
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)
|
rs1553348722
|
|
NM_000251.3(MSH2):c.361T>A (p.Tyr121Asn)
|
rs878853816
|
|
NM_000251.3(MSH2):c.364A>C (p.Lys122Gln)
|
rs374127044
|
|
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)
|
rs374127044
|
|
NM_000251.3(MSH2):c.365A>T (p.Lys122Met)
|
rs863224643
|
|
NM_000251.3(MSH2):c.366+4A>G
|
|
|
NM_000251.3(MSH2):c.366+4del
|
rs2103986055
|
|
NM_000251.3(MSH2):c.366+6T>G
|
|
|
NM_000251.3(MSH2):c.366G>C (p.Lys122Asn)
|
rs2103985797
|
|
NM_000251.3(MSH2):c.367-3T>A
|
|
|
NM_000251.3(MSH2):c.367-3T>G
|
rs1558458845
|
|
NM_000251.3(MSH2):c.367-5C>G
|
rs587782414
|
|
NM_000251.3(MSH2):c.367G>A (p.Ala123Thr)
|
rs768313992
|
|
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)
|
rs1558451303
|
|
NM_000251.3(MSH2):c.36G>T (p.Glu12Asp)
|
|
|
NM_000251.3(MSH2):c.370T>A (p.Ser124Thr)
|
rs2104016885
|
|
NM_000251.3(MSH2):c.371C>G (p.Ser124Cys)
|
rs1553350635
|
|
NM_000251.3(MSH2):c.371C>T (p.Ser124Phe)
|
rs1553350635
|
|
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr)
|
rs761767467
|
|
NM_000251.3(MSH2):c.373_375del (p.Pro125del)
|
rs2104017035
|
|
NM_000251.3(MSH2):c.374C>G (p.Pro125Arg)
|
|
|
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu)
|
rs876659113
|
|
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg)
|
rs767371843
|
|
NM_000251.3(MSH2):c.377G>A (p.Gly126Asp)
|
rs1672655495
|
|
NM_000251.3(MSH2):c.377G>T (p.Gly126Val)
|
|
|
NM_000251.3(MSH2):c.379A>T (p.Asn127Tyr)
|
|
|
NM_000251.3(MSH2):c.380A>C (p.Asn127Thr)
|
rs17217772
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000251.3(MSH2):c.388C>G (p.Gln130Glu)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.38G>C (p.Ser13Thr)
|
|
|
NM_000251.3(MSH2):c.390G>C (p.Gln130His)
|
rs1558458954
|
|
NM_000251.3(MSH2):c.390G>T (p.Gln130His)
|
|
|
NM_000251.3(MSH2):c.392T>C (p.Phe131Ser)
|
|
|
NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)
|
rs984353312
|
|
NM_000251.3(MSH2):c.39C>A (p.Ser13Arg)
|
rs1060502015
|
|
NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)
|
rs1060502015
|
|
NM_000251.3(MSH2):c.400A>G (p.Ile134Val)
|
rs1573440435
|
|
NM_000251.3(MSH2):c.400A>T (p.Ile134Phe)
|
rs1573440435
|
|
NM_000251.3(MSH2):c.403C>A (p.Leu135Ile)
|
rs193096019
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
NM_000251.3(MSH2):c.407T>C (p.Phe136Ser)
|
|
|
NM_000251.3(MSH2):c.408T>G (p.Phe136Leu)
|
rs1558458996
|
|
NM_000251.3(MSH2):c.412A>T (p.Asn138Tyr)
|
rs1553350673
|
|
NM_000251.3(MSH2):c.414C>A (p.Asn138Lys)
|
rs1672658909
|
|
NM_000251.3(MSH2):c.414C>G (p.Asn138Lys)
|
|
|
NM_000251.3(MSH2):c.415_417del (p.Asn139del)
|
rs1672659204
|
|
NM_000251.3(MSH2):c.416A>G (p.Asn139Ser)
|
rs1553350676
|
|
NM_000251.3(MSH2):c.419A>C (p.Asp140Ala)
|
rs1672659515
|
|
NM_000251.3(MSH2):c.419A>G (p.Asp140Gly)
|
rs1672659515
|
|
NM_000251.3(MSH2):c.419A>T (p.Asp140Val)
|
|
|
NM_000251.3(MSH2):c.41C>A (p.Ala14Glu)
|
|
|
NM_000251.3(MSH2):c.421A>G (p.Met141Val)
|
rs193922374
|
|
NM_000251.3(MSH2):c.423G>A (p.Met141Ile)
|
rs1672660061
|
|
NM_000251.3(MSH2):c.424T>G (p.Ser142Ala)
|
rs1064795714
|
|
NM_000251.3(MSH2):c.427G>A (p.Ala143Thr)
|
rs878853817
|
|
NM_000251.3(MSH2):c.428C>G (p.Ala143Gly)
|
rs1553350694
|
|
NM_000251.3(MSH2):c.428C>T (p.Ala143Val)
|
rs1553350694
|
|
NM_000251.3(MSH2):c.430T>G (p.Ser144Ala)
|
rs1672660930
|
|
NM_000251.3(MSH2):c.431C>G (p.Ser144Cys)
|
rs878853818
|
|
NM_000251.3(MSH2):c.432C>T (p.Ser144=)
|
rs1558459072
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
NM_000251.3(MSH2):c.442G>A (p.Val148Met)
|
rs1672662905
|
|
NM_000251.3(MSH2):c.442G>C (p.Val148Leu)
|
rs1672662905
|
|
NM_000251.3(MSH2):c.443T>A (p.Val148Glu)
|
rs1553350714
|
|
NM_000251.3(MSH2):c.443T>C (p.Val148Ala)
|
rs1553350714
|
|
NM_000251.3(MSH2):c.445G>A (p.Gly149Ser)
|
rs929758799
|
|
NM_000251.3(MSH2):c.446G>C (p.Gly149Ala)
|
rs587779162
|
|
NM_000251.3(MSH2):c.446G>T (p.Gly149Val)
|
rs587779162
|
|
NM_000251.3(MSH2):c.448G>A (p.Val150Ile)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.448G>C (p.Val150Leu)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.44C>T (p.Ala15Val)
|
rs776671839
|
|
NM_000251.3(MSH2):c.452A>C (p.Lys151Thr)
|
rs1558459171
|
|
NM_000251.3(MSH2):c.456G>A (p.Met152Ile)
|
rs1573440792
|
|
NM_000251.3(MSH2):c.457T>C (p.Ser153Pro)
|
|
|
NM_000251.3(MSH2):c.463G>T (p.Val155Phe)
|
rs1372639847
|
|
NM_000251.3(MSH2):c.464T>A (p.Val155Asp)
|
rs876658188
|
|
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)
|
rs876658188
|
|
NM_000251.3(MSH2):c.466G>C (p.Asp156His)
|
rs1672665230
|
|
NM_000251.3(MSH2):c.467A>G (p.Asp156Gly)
|
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
NM_000251.3(MSH2):c.470G>T (p.Gly157Val)
|
rs765489269
|
|
NM_000251.3(MSH2):c.473A>G (p.Gln158Arg)
|
rs1672665988
|
|
NM_000251.3(MSH2):c.476G>A (p.Arg159Lys)
|
rs786202921
|
|
NM_000251.3(MSH2):c.478C>G (p.Gln160Glu)
|
|
|
NM_000251.3(MSH2):c.479A>C (p.Gln160Pro)
|
rs1573440972
|
|
NM_000251.3(MSH2):c.479A>T (p.Gln160Leu)
|
|
|
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)
|
rs745771647
|
|
NM_000251.3(MSH2):c.480G>T (p.Gln160His)
|
rs1558459273
|
|
NM_000251.3(MSH2):c.481G>C (p.Val161Leu)
|
rs149511545
|
|
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
|
rs63750126
|
|
NM_000251.3(MSH2):c.482T>G (p.Val161Gly)
|
|
|
NM_000251.3(MSH2):c.485G>C (p.Gly162Ala)
|
rs63750773
|
|
NM_000251.3(MSH2):c.487G>A (p.Val163Ile)
|
|
|
NM_000251.3(MSH2):c.487G>T (p.Val163Phe)
|
|
|
NM_000251.3(MSH2):c.488T>C (p.Val163Ala)
|
rs63750214
|
|
NM_000251.3(MSH2):c.48G>C (p.Glu16Asp)
|
rs1060502036
|
|
NM_000251.3(MSH2):c.494A>G (p.Tyr165Cys)
|
rs1553350772
|
|
NM_000251.3(MSH2):c.496G>C (p.Val166Leu)
|
|
|
NM_000251.3(MSH2):c.496G>T (p.Val166Leu)
|
rs1672668358
|
|
NM_000251.3(MSH2):c.49G>C (p.Val17Leu)
|
rs63750966
|
|
NM_000251.3(MSH2):c.49G>T (p.Val17Phe)
|
rs63750966
|
|
NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)
|
rs281864943
|
|
NM_000251.3(MSH2):c.503C>A (p.Ser168Tyr)
|
rs1244537662
|
|
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr)
|
rs1060502011
|
|
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys)
|
rs2104027960
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
NM_000251.3(MSH2):c.508C>A (p.Gln170Lys)
|
rs63750843
|
|
NM_000251.3(MSH2):c.510G>C (p.Gln170His)
|
rs2104028363
|
|
NM_000251.3(MSH2):c.510G>T (p.Gln170His)
|
rs2104028363
|
|
NM_000251.3(MSH2):c.520G>A (p.Gly174Arg)
|
|
|
NM_000251.3(MSH2):c.527G>A (p.Cys176Tyr)
|
rs1553350829
|
|
NM_000251.3(MSH2):c.529G>A (p.Glu177Lys)
|
rs63750382
|
|
NM_000251.3(MSH2):c.530A>G (p.Glu177Gly)
|
rs786203795
|
|
NM_000251.3(MSH2):c.530A>T (p.Glu177Val)
|
rs786203795
|
|
NM_000251.3(MSH2):c.531A>T (p.Glu177Asp)
|
rs1060504416
|
|
NM_000251.3(MSH2):c.533T>A (p.Phe178Tyr)
|
rs1558459478
|
|
NM_000251.3(MSH2):c.534C>A (p.Phe178Leu)
|
rs1553350837
|
|
NM_000251.3(MSH2):c.536C>T (p.Pro179Leu)
|
rs902336078
|
|
NM_000251.3(MSH2):c.539A>C (p.Asp180Ala)
|
rs1159514085
|
|
NM_000251.3(MSH2):c.539A>G (p.Asp180Gly)
|
|
|
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp)
|
rs1200418561
|
|
NM_000251.3(MSH2):c.541A>G (p.Asn181Asp)
|
|
|
NM_000251.3(MSH2):c.545A>T (p.Asp182Val)
|
rs1672672975
|
|
NM_000251.3(MSH2):c.546T>A (p.Asp182Glu)
|
|
|
NM_000251.3(MSH2):c.547C>G (p.Gln183Glu)
|
rs63750037
|
|
NM_000251.3(MSH2):c.552C>A (p.Phe184Leu)
|
rs786202238
|
|
NM_000251.3(MSH2):c.554C>A (p.Ser185Tyr)
|
|
|
NM_000251.3(MSH2):c.556A>C (p.Asn186His)
|
rs766497093
|
|
NM_000251.3(MSH2):c.556A>G (p.Asn186Asp)
|
rs766497093
|
|
NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)
|
|
|
NM_000251.3(MSH2):c.559C>A (p.Leu187Ile)
|
rs759603999
|
|
NM_000251.3(MSH2):c.559C>T (p.Leu187Phe)
|
rs759603999
|
|
NM_000251.3(MSH2):c.55T>G (p.Phe19Val)
|
rs141711342
|
|
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)
|
rs1064795622
|
|
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln)
|
rs1064795622
|
|
NM_000251.3(MSH2):c.564G>A (p.Glu188=)
|
rs1553350883
|
|
NM_000251.3(MSH2):c.565G>A (p.Ala189Thr)
|
rs63750821
|
|
NM_000251.3(MSH2):c.568C>G (p.Leu190Val)
|
rs763459034
|
|
NM_000251.3(MSH2):c.568C>T (p.Leu190Phe)
|
rs763459034
|
|
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)
|
rs1320061495
|
|
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)
|
rs1553350898
|
|
NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)
|
|
|
NM_000251.3(MSH2):c.576C>G (p.Ile192Met)
|
rs864622381
|
|
NM_000251.3(MSH2):c.578A>C (p.Gln193Pro)
|
rs1573441665
|
|
NM_000251.3(MSH2):c.579G>C (p.Gln193His)
|
|
|
NM_000251.3(MSH2):c.580A>G (p.Ile194Val)
|
rs1672676776
|
|
NM_000251.3(MSH2):c.587C>A (p.Pro196Gln)
|
rs754478179
|
|
NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)
|
rs778573140
|
|
NM_000251.3(MSH2):c.58G>A (p.Val20Met)
|
rs1198168331
|
|
NM_000251.3(MSH2):c.58G>C (p.Val20Leu)
|
rs1198168331
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
NM_000251.3(MSH2):c.599T>C (p.Val200Ala)
|
|
|
NM_000251.3(MSH2):c.5C>A (p.Ala2Glu)
|
rs587778521
|
|
NM_000251.3(MSH2):c.605C>G (p.Pro202Arg)
|
rs1060502002
|
|
NM_000251.3(MSH2):c.606C>A (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.608G>A (p.Gly203Glu)
|
rs1573441851
|
|
NM_000251.3(MSH2):c.608GAG[1] (p.Gly204del)
|
rs2104037867
|
|
NM_000251.3(MSH2):c.611G>C (p.Gly204Ala)
|
rs770787472
|
|
NM_000251.3(MSH2):c.616A>T (p.Thr206Ser)
|
rs2104038999
|
|
NM_000251.3(MSH2):c.617C>G (p.Thr206Ser)
|
rs876658623
|
|
NM_000251.3(MSH2):c.617C>T (p.Thr206Ile)
|
rs876658623
|
|
NM_000251.3(MSH2):c.619G>C (p.Ala207Pro)
|
rs63750913
|
|
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser)
|
rs63750913
|
|
NM_000251.3(MSH2):c.622_627dup (p.Gly208_Asp209dup)
|
rs1553350958
|
|
NM_000251.3(MSH2):c.623G>C (p.Gly208Ala)
|
rs1573441967
|
|
NM_000251.3(MSH2):c.625G>C (p.Asp209His)
|
rs746013810
|
|
NM_000251.3(MSH2):c.627C>G (p.Asp209Glu)
|
|
|
NM_000251.3(MSH2):c.628A>C (p.Met210Leu)
|
rs1558459826
|
|
NM_000251.3(MSH2):c.628A>G (p.Met210Val)
|
rs1558459826
|
|
NM_000251.3(MSH2):c.62G>C (p.Arg21Pro)
|
rs730881760
|
|
NM_000251.3(MSH2):c.62_63delinsTT (p.Arg21Leu)
|
rs1060501996
|
|
NM_000251.3(MSH2):c.632G>A (p.Gly211Glu)
|
rs1672682495
|
|
NM_000251.3(MSH2):c.636A>T (p.Lys212Asn)
|
rs2104041494
|
|
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg)
|
rs1553350974
|
|
NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)
|
rs1553350980
|
|
NM_000251.3(MSH2):c.641G>A (p.Arg214Lys)
|
rs763298811
|
|
NM_000251.3(MSH2):c.645+4A>G
|
rs1573442142
|
|
NM_000251.3(MSH2):c.645+6C>T
|
rs1206136415
|
|
NM_000251.3(MSH2):c.646-14_646-13del
|
rs1553351532
|
|
NM_000251.3(MSH2):c.646-3_679dup
|
rs2104097745
|
|
NM_000251.3(MSH2):c.646-4A>G
|
rs587779974
|
|
NM_000251.3(MSH2):c.646-6A>G
|
rs1553351543
|
|
NM_000251.3(MSH2):c.646-8C>T
|
|
|
NM_000251.3(MSH2):c.647T>C (p.Ile216Thr)
|
rs786203108
|
|
NM_000251.3(MSH2):c.648_650del (p.Ile217del)
|
rs1553351554
|
|
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)
|
rs1189127007
|
|
NM_000251.3(MSH2):c.64T>C (p.Phe22Leu)
|
rs1189127007
|
|
NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)
|
|
|
NM_000251.3(MSH2):c.652C>G (p.Gln218Glu)
|
rs587779170
|
|
NM_000251.3(MSH2):c.656G>C (p.Arg219Thr)
|
rs878853821
|
|
NM_000251.3(MSH2):c.658G>C (p.Gly220Arg)
|
rs1573446496
|
|
NM_000251.3(MSH2):c.659G>A (p.Gly220Glu)
|
rs1573446509
|
|
NM_000251.3(MSH2):c.661G>C (p.Gly221Arg)
|
rs1558461638
|
|
NM_000251.3(MSH2):c.662G>A (p.Gly221Glu)
|
rs1672816231
|
|
NM_000251.3(MSH2):c.667C>G (p.Leu223Val)
|
rs1558461660
|
|
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)
|
rs1060501992
|
|
NM_000251.3(MSH2):c.66C>G (p.Phe22Leu)
|
rs200632093
|
|
NM_000251.3(MSH2):c.671T>G (p.Ile224Ser)
|
rs1672817021
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
NM_000251.3(MSH2):c.673A>C (p.Thr225Pro)
|
|
|
NM_000251.3(MSH2):c.673A>G (p.Thr225Ala)
|
rs2104100647
|
|
NM_000251.3(MSH2):c.674C>G (p.Thr225Arg)
|
rs1553351576
|
|
NM_000251.3(MSH2):c.674C>T (p.Thr225Ile)
|
rs1553351576
|
|
NM_000251.3(MSH2):c.677A>G (p.Glu226Gly)
|
rs1672817581
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.681A>C (p.Arg227Ser)
|
rs876658956
|
|
NM_000251.3(MSH2):c.681A>T (p.Arg227Ser)
|
rs876658956
|
|
NM_000251.3(MSH2):c.688G>C (p.Ala230Pro)
|
rs1672818590
|
|
NM_000251.3(MSH2):c.689C>A (p.Ala230Asp)
|
rs1553351592
|
|
NM_000251.3(MSH2):c.689C>G (p.Ala230Gly)
|
rs1553351592
|
|
NM_000251.3(MSH2):c.689C>T (p.Ala230Val)
|
rs1553351592
|
|
NM_000251.3(MSH2):c.690_692del (p.Asp231del)
|
|
|
NM_000251.3(MSH2):c.691G>A (p.Asp231Asn)
|
rs1384841612
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
|
rs587781724
|
|
NM_000251.3(MSH2):c.699_716del (p.Thr234_Gln239del)
|
rs1672819805
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
NM_000251.3(MSH2):c.701C>G (p.Thr234Arg)
|
rs730881773
|
|
NM_000251.3(MSH2):c.704A>C (p.Lys235Thr)
|
rs2104103015
|
|
NM_000251.3(MSH2):c.706G>A (p.Asp236Asn)
|
rs1064793655
|
|
NM_000251.3(MSH2):c.708C>A (p.Asp236Glu)
|
rs1553351613
|
|
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)
|
rs587779976
|
|
NM_000251.3(MSH2):c.710T>G (p.Ile237Ser)
|
|
|
NM_000251.3(MSH2):c.712T>C (p.Tyr238His)
|
|
|
NM_000251.3(MSH2):c.712T>G (p.Tyr238Asp)
|
rs1060501987
|
|
NM_000251.3(MSH2):c.713A>G (p.Tyr238Cys)
|
rs1553351618
|
|
NM_000251.3(MSH2):c.713A>T (p.Tyr238Phe)
|
rs1553351618
|
|
NM_000251.3(MSH2):c.716A>T (p.Gln239Leu)
|
rs199676483
|
|
NM_000251.3(MSH2):c.717G>C (p.Gln239His)
|
rs2104104310
|
|
NM_000251.3(MSH2):c.718G>A (p.Asp240Asn)
|
rs1157156506
|
|
NM_000251.3(MSH2):c.718G>T (p.Asp240Tyr)
|
rs1157156506
|
|
NM_000251.3(MSH2):c.719A>C (p.Asp240Ala)
|
rs878853822
|
|
NM_000251.3(MSH2):c.719A>G (p.Asp240Gly)
|
rs878853822
|
|
NM_000251.3(MSH2):c.721C>G (p.Leu241Val)
|
rs1410859610
|
|
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe)
|
rs1410859610
|
|
NM_000251.3(MSH2):c.722T>C (p.Leu241Pro)
|
rs2104105015
|
|
NM_000251.3(MSH2):c.724A>C (p.Asn242His)
|
rs1553351634
|
|
NM_000251.3(MSH2):c.725A>C (p.Asn242Thr)
|
|
|
NM_000251.3(MSH2):c.726C>A (p.Asn242Lys)
|
|
|
NM_000251.3(MSH2):c.727C>A (p.Arg243=)
|
rs138857091
|
|
NM_000251.3(MSH2):c.728G>C (p.Arg243Pro)
|
|
|
NM_000251.3(MSH2):c.730T>A (p.Leu244Met)
|
|
|
NM_000251.3(MSH2):c.731T>C (p.Leu244Ser)
|
rs1553351657
|
|
NM_000251.3(MSH2):c.732G>T (p.Leu244Phe)
|
|
|
NM_000251.3(MSH2):c.734T>C (p.Leu245Ser)
|
|
|
NM_000251.3(MSH2):c.734T>G (p.Leu245Trp)
|
rs1672823951
|
|
NM_000251.3(MSH2):c.735G>C (p.Leu245Phe)
|
rs864622271
|
|
NM_000251.3(MSH2):c.736A>G (p.Lys246Glu)
|
rs63750881
|
|
NM_000251.3(MSH2):c.738A>C (p.Lys246Asn)
|
rs1672824851
|
|
NM_000251.3(MSH2):c.739G>C (p.Gly247Arg)
|
rs2104106661
|
|
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)
|
rs746259256
|
|
NM_000251.3(MSH2):c.741C>T (p.Gly247=)
|
rs747321505
|
|
NM_000251.3(MSH2):c.742A>C (p.Lys248Gln)
|
rs587779178
|
|
NM_000251.3(MSH2):c.744A>C (p.Lys248Asn)
|
rs1060502022
|
|
NM_000251.3(MSH2):c.746A>C (p.Lys249Thr)
|
rs61756464
|
|
NM_000251.3(MSH2):c.746A>G (p.Lys249Arg)
|
rs61756464
|
|
NM_000251.3(MSH2):c.747G>C (p.Lys249Asn)
|
rs786201568
|
|
NM_000251.3(MSH2):c.748G>A (p.Gly250Arg)
|
rs864622183
|
|
NM_000251.3(MSH2):c.751G>A (p.Glu251Lys)
|
rs147389443
|
|
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)
|
rs370906735
|
|
NM_000251.3(MSH2):c.756G>T (p.Gln252His)
|
rs763639520
|
|
NM_000251.3(MSH2):c.757A>G (p.Met253Val)
|
rs1672827889
|
|
NM_000251.3(MSH2):c.760A>C (p.Asn254His)
|
|
|
NM_000251.3(MSH2):c.761A>G (p.Asn254Ser)
|
rs1558462016
|
|
NM_000251.3(MSH2):c.764G>C (p.Ser255Thr)
|
rs763184168
|
|
NM_000251.3(MSH2):c.767C>T (p.Ala256Val)
|
|
|
NM_000251.3(MSH2):c.769G>A (p.Val257Ile)
|
rs876659357
|
|
NM_000251.3(MSH2):c.76A>C (p.Met26Leu)
|
rs876660371
|
|
NM_000251.3(MSH2):c.76A>G (p.Met26Val)
|
rs876660371
|
|
NM_000251.3(MSH2):c.776C>G (p.Pro259Arg)
|
|
|
NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)
|
rs866818044
|
|
NM_000251.3(MSH2):c.778G>A (p.Glu260Lys)
|
rs1672830765
|
|
NM_000251.3(MSH2):c.77T>A (p.Met26Lys)
|
|
|
NM_000251.3(MSH2):c.781A>G (p.Met261Val)
|
rs786201941
|
|
NM_000251.3(MSH2):c.781A>T (p.Met261Leu)
|
rs786201941
|
|
NM_000251.3(MSH2):c.783G>A (p.Met261Ile)
|
rs1226778440
|
|
NM_000251.3(MSH2):c.784G>A (p.Glu262Lys)
|
|
|
NM_000251.3(MSH2):c.784G>C (p.Glu262Gln)
|
rs1553351739
|
|
NM_000251.3(MSH2):c.785A>T (p.Glu262Val)
|
rs1558462101
|
|
NM_000251.3(MSH2):c.786G>C (p.Glu262Asp)
|
rs754820584
|
|
NM_000251.3(MSH2):c.786G>T (p.Glu262Asp)
|
rs754820584
|
|
NM_000251.3(MSH2):c.787A>C (p.Asn263His)
|
rs876659858
|
|
NM_000251.3(MSH2):c.787A>T (p.Asn263Tyr)
|
rs876659858
|
|
NM_000251.3(MSH2):c.788A>G (p.Asn263Ser)
|
rs1553351743
|
|
NM_000251.3(MSH2):c.788A>T (p.Asn263Ile)
|
rs1553351743
|
|
NM_000251.3(MSH2):c.791A>C (p.Gln264Pro)
|
rs730881780
|
|
NM_000251.3(MSH2):c.792+4C>T
|
rs1416241924
|
|
NM_000251.3(MSH2):c.792+6T>A
|
rs553480072
|
|
NM_000251.3(MSH2):c.792+6T>C
|
rs553480072
|
|
NM_000251.3(MSH2):c.792G>A (p.Gln264=)
|
rs587779183
|
|
NM_000251.3(MSH2):c.792G>C (p.Gln264His)
|
rs587779183
|
|
NM_000251.3(MSH2):c.793-10T>G
|
rs1060502016
|
|
NM_000251.3(MSH2):c.793G>A (p.Val265Ile)
|
rs1553352377
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
NM_000251.3(MSH2):c.796G>A (p.Ala266Thr)
|
rs1114167887
|
|
NM_000251.3(MSH2):c.797C>A (p.Ala266Glu)
|
rs587781745
|
|
NM_000251.3(MSH2):c.799G>T (p.Val267Phe)
|
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
NM_000251.3(MSH2):c.79C>G (p.Pro27Ala)
|
rs878853826
|
|
NM_000251.3(MSH2):c.7G>A (p.Val3Met)
|
rs1257347271
|
|
NM_000251.3(MSH2):c.7G>T (p.Val3Leu)
|
rs1257347271
|
|
NM_000251.3(MSH2):c.802T>G (p.Ser268Ala)
|
rs876659298
|
|
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)
|
rs63750058
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
NM_000251.3(MSH2):c.80C>G (p.Pro27Arg)
|
rs750746034
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
NM_000251.3(MSH2):c.820A>C (p.Ile274Leu)
|
rs371944271
|
|
NM_000251.3(MSH2):c.822C>G (p.Ile274Met)
|
rs781569442
|
|
NM_000251.3(MSH2):c.823A>C (p.Lys275Gln)
|
rs1672946564
|
|
NM_000251.3(MSH2):c.826T>A (p.Phe276Ile)
|
rs1672946845
|
|
NM_000251.3(MSH2):c.827T>G (p.Phe276Cys)
|
rs2104168386
|
|
NM_000251.3(MSH2):c.830T>C (p.Leu277Ser)
|
rs786203424
|
|
NM_000251.3(MSH2):c.832G>A (p.Glu278Lys)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.833A>G (p.Glu278Gly)
|
rs1672947364
|
|
NM_000251.3(MSH2):c.836T>A (p.Leu279His)
|
rs1024743168
|
|
NM_000251.3(MSH2):c.836T>C (p.Leu279Pro)
|
rs1024743168
|
|
NM_000251.3(MSH2):c.840A>C (p.Leu280Phe)
|
rs1672948461
|
|
NM_000251.3(MSH2):c.841T>A (p.Ser281Thr)
|
rs587779977
|
|
NM_000251.3(MSH2):c.844G>C (p.Asp282His)
|
rs760432160
|
|
NM_000251.3(MSH2):c.845A>C (p.Asp282Ala)
|
rs587779978
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
NM_000251.3(MSH2):c.846T>G (p.Asp282Glu)
|
rs1254906246
|
|
NM_000251.3(MSH2):c.847G>C (p.Asp283His)
|
rs63750381
|
|
NM_000251.3(MSH2):c.848A>G (p.Asp283Gly)
|
rs770643326
|
|
NM_000251.3(MSH2):c.84G>T (p.Glu28Asp)
|
rs752220575
|
|
NM_000251.3(MSH2):c.854A>C (p.Asn285Thr)
|
rs1060502031
|
|
NM_000251.3(MSH2):c.857T>C (p.Phe286Ser)
|
rs1672950637
|
|
NM_000251.3(MSH2):c.859G>A (p.Gly287Arg)
|
|
|
NM_000251.3(MSH2):c.859G>C (p.Gly287Arg)
|
rs63750276
|
|
NM_000251.3(MSH2):c.85A>G (p.Lys29Glu)
|
rs1060502001
|
|
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu)
|
rs587782567
|
|
NM_000251.3(MSH2):c.862C>G (p.Gln288Glu)
|
rs63750097
|
|
NM_000251.3(MSH2):c.865T>C (p.Phe289Leu)
|
rs1060502003
|
|
NM_000251.3(MSH2):c.868G>C (p.Glu290Gln)
|
|
|
NM_000251.3(MSH2):c.869A>G (p.Glu290Gly)
|
|
|
NM_000251.3(MSH2):c.871C>G (p.Leu291Val)
|
rs878853827
|
|
NM_000251.3(MSH2):c.874A>C (p.Thr292Pro)
|
rs104895022
|
|
NM_000251.3(MSH2):c.874A>G (p.Thr292Ala)
|
rs104895022
|
|
NM_000251.3(MSH2):c.87G>T (p.Lys29Asn)
|
rs1573423284
|
|
NM_000251.3(MSH2):c.887T>A (p.Phe296Tyr)
|
rs1573451658
|
|
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)
|
rs876659918
|
|
NM_000251.3(MSH2):c.88C>A (p.Pro30Thr)
|
rs786203822
|
|
NM_000251.3(MSH2):c.88C>T (p.Pro30Ser)
|
|
|
NM_000251.3(MSH2):c.890G>A (p.Ser297Asn)
|
rs1672953801
|
|
NM_000251.3(MSH2):c.894G>T (p.Gln298His)
|
|
|
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)
|
rs1558464315
|
|
NM_000251.3(MSH2):c.898A>G (p.Met300Val)
|
rs730881753
|
|
NM_000251.3(MSH2):c.89C>G (p.Pro30Arg)
|
rs757892928
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
NM_000251.3(MSH2):c.900G>A (p.Met300Ile)
|
rs587782530
|
|
NM_000251.3(MSH2):c.904T>A (p.Leu302Met)
|
rs876660115
|
|
NM_000251.3(MSH2):c.906G>C (p.Leu302Phe)
|
rs786202947
|
|
NM_000251.3(MSH2):c.907G>A (p.Asp303Asn)
|
rs1064793654
|
|
NM_000251.3(MSH2):c.907G>C (p.Asp303His)
|
rs1064793654
|
|
NM_000251.3(MSH2):c.910A>G (p.Ile304Val)
|
rs1558464351
|
|
NM_000251.3(MSH2):c.910A>T (p.Ile304Phe)
|
rs1558464351
|
|
NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)
|
rs1021303606
|
|
NM_000251.3(MSH2):c.916_917delinsAT (p.Ala306Ile)
|
rs2104178925
|
|
NM_000251.3(MSH2):c.917C>G (p.Ala306Gly)
|
rs1553352536
|
|
NM_000251.3(MSH2):c.917C>T (p.Ala306Val)
|
rs1553352536
|
|
NM_000251.3(MSH2):c.918_919delinsTT (p.Val307Phe)
|
rs2104179126
|
|
NM_000251.3(MSH2):c.919G>C (p.Val307Leu)
|
rs1672956447
|
|
NM_000251.3(MSH2):c.919G>T (p.Val307Phe)
|
rs1672956447
|
|
NM_000251.3(MSH2):c.91A>G (p.Thr31Ala)
|
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
NM_000251.3(MSH2):c.925G>A (p.Ala309Thr)
|
rs781257094
|
|
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro)
|
rs781257094
|
|
NM_000251.3(MSH2):c.928C>T (p.Leu310Phe)
|
rs750866402
|
|
NM_000251.3(MSH2):c.92C>A (p.Thr31Asn)
|
|
|
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser)
|
rs746635262
|
|
NM_000251.3(MSH2):c.932A>C (p.Asn311Thr)
|
|
|
NM_000251.3(MSH2):c.932A>G (p.Asn311Ser)
|
rs1553352559
|
|
NM_000251.3(MSH2):c.934C>A (p.Leu312Ile)
|
rs756398636
|
|
NM_000251.3(MSH2):c.934C>T (p.Leu312Phe)
|
|
|
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)
|
rs2104180665
|
|
NM_000251.3(MSH2):c.937T>C (p.Phe313Leu)
|
rs1672958025
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+2_942+4del
|
rs767111319
|
|
NM_000251.3(MSH2):c.942+2_942+5del
|
rs763758661
|
|
NM_000251.3(MSH2):c.942+2_942+6del
|
rs755583143
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+4A>C
|
rs749778569
|
|
NM_000251.3(MSH2):c.942+5A>C
|
rs769242733
|
|
NM_000251.3(MSH2):c.943-3T>A
|
|
|
NM_000251.3(MSH2):c.943-3T>C
|
rs2104241966
|
|
NM_000251.3(MSH2):c.943-4C>G
|
rs1432053166
|
|
NM_000251.3(MSH2):c.943G>A (p.Gly315Ser)
|
rs2104242161
|
|
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys)
|
rs2104242161
|
|
NM_000251.3(MSH2):c.946T>A (p.Ser316Thr)
|
rs1553353101
|
|
NM_000251.3(MSH2):c.946T>C (p.Ser316Pro)
|
rs1553353101
|
|
NM_000251.3(MSH2):c.947C>A (p.Ser316Tyr)
|
rs876660241
|
|
NM_000251.3(MSH2):c.949G>T (p.Val317Phe)
|
|
|
NM_000251.3(MSH2):c.94A>C (p.Thr32Pro)
|
rs1060502033
|
|
NM_000251.3(MSH2):c.94A>G (p.Thr32Ala)
|
rs1060502033
|
|
NM_000251.3(MSH2):c.953A>G (p.Glu318Gly)
|
rs2104242889
|
|
NM_000251.3(MSH2):c.955G>A (p.Asp319Asn)
|
rs876660605
|
|
NM_000251.3(MSH2):c.955G>C (p.Asp319His)
|
|
|
NM_000251.3(MSH2):c.955G>T (p.Asp319Tyr)
|
rs876660605
|
|
NM_000251.3(MSH2):c.956A>C (p.Asp319Ala)
|
rs786204185
|
|
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser)
|
rs1064794010
|
|
NM_000251.3(MSH2):c.959C>T (p.Thr320Ile)
|
rs1064794010
|
|
NM_000251.3(MSH2):c.95C>A (p.Thr32Asn)
|
rs552361923
|
|
NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)
|
|
|
NM_000251.3(MSH2):c.961A>C (p.Thr321Pro)
|
rs587781550
|
|
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala)
|
rs587781550
|
|
NM_000251.3(MSH2):c.961A>T (p.Thr321Ser)
|
rs587781550
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.966_968del (p.Ser323del)
|
|
|
NM_000251.3(MSH2):c.967T>C (p.Ser323Pro)
|
rs2104244172
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
NM_000251.3(MSH2):c.970C>G (p.Gln324Glu)
|
rs63750502
|
|
NM_000251.3(MSH2):c.976C>G (p.Leu326Val)
|
rs1237931528
|
|
NM_000251.3(MSH2):c.977T>C (p.Leu326Pro)
|
rs2104245233
|
|
NM_000251.3(MSH2):c.979G>A (p.Ala327Thr)
|
rs1558466437
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
NM_000251.3(MSH2):c.980C>T (p.Ala327Val)
|
rs1553353141
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
NM_000251.3(MSH2):c.985T>G (p.Leu329Val)
|
rs1553353150
|
|
NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)
|
rs933434691
|
|
NM_000251.3(MSH2):c.988C>A (p.Leu330Met)
|
rs1553353157
|
|
NM_000251.3(MSH2):c.98C>G (p.Thr33Arg)
|
rs769631146
|
|
NM_000251.3(MSH2):c.994A>C (p.Lys332Gln)
|
|
|
NM_000251.3(MSH2):c.995A>T (p.Lys332Met)
|
rs1673074249
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln)
|
rs1565631094
|
|
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
|
|
|
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
|
|
|
NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)
|
|
|
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
|
|
|
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
|
|
|
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
|
rs2048199652
|
|
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
|
|
|
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
|
|
|
NM_000292.3(PHKA2):c.1569+3G>A
|
|
|
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)
|
rs2147995267
|
|
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
|
|
|
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)
|
rs370965746
|
|
NM_000292.3(PHKA2):c.1794-8_1794-6del
|
|
|
NM_000292.3(PHKA2):c.1964-3C>T
|
rs1035866155
|
|
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
|
|
|
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
|
|
|
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
|
rs886801187
|
|
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
|
|
|
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
|
rs2047851598
|
|
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)
|
rs1569298640
|
|
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
|
rs1234436850
|
|
NM_000292.3(PHKA2):c.2517+5G>A
|
rs2047850403
|
|
NM_000292.3(PHKA2):c.2597+2dup
|
rs2047830748
|
|
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
|
|
|
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
|
|
|
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)
|
rs2147991232
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
NM_000292.3(PHKA2):c.286-10del
|
rs766261786
|
|
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
|
rs2147851573
|
|
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
|
|
|
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
|
|
|
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)
|
rs1601700586
|
|
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)
|
rs773766679
|
|
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
|
|
|
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
|
|
|
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
|
|
|
NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)
|
|
|
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
|
|
|
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
|
|
|
NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)
|
|
|
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
|
rs2047493147
|
|
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)
|
rs1555988071
|
|
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
|
|
|
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
|
|
|
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
|
|
|
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
|
|
|
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)
|
rs1601776489
|
|
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
|
rs2147802543
|
|
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
|
|
|
NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)
|
|
|
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)
|
rs1569286164
|
|
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)
|
rs1601685360
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
|
rs2047465246
|
|
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
|
rs137852291
|
|
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
|
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
|
|
|
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
|
|
|
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
|
|
|
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
|
|
|
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
|
rs774250532
|
|
NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)
|
|
|
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)
|
rs2147963178
|
|
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
|
rs2048489995
|
|
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)
|
rs2147962993
|
|
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)
|
rs2049222511
|
|
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
|
rs1359540820
|
|
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
|
rs2147958526
|
|
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
|
|
|
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)
|
rs1601758342
|
|
NM_000294.2(PHKG2):c.-118G>A
|
rs1361898035
|
|
NM_000294.2(PHKG2):c.-162C>T
|
rs938838075
|
|
NM_000294.3(PHKG2):c.-76G>C
|
rs2053281054
|
|
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
|
rs747926397
|
|
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
|
|
|
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
|
|
|
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
|
|
|
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)
|
rs886051914
|
|
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
|
|
|
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
|
rs2053338364
|
|
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
|
|
|
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
|
rs2053339231
|
|
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
|
|
|
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
NM_000294.3(PHKG2):c.271+6G>A
|
rs767677860
|
|
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
|
|
|
NM_000294.3(PHKG2):c.448G>A (p.Val150Met)
|
rs886051911
|
|
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
|
rs2053379091
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del)
|
rs2151310152
|
|
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
|
|
|
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
|
rs2053424230
|
|
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
|
rs1596677187
|
|
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
|
|
|
NM_000294.3(PHKG2):c.836G>A (p.Arg279His)
|
rs2151310526
|
|
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
|
|
|
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro)
|
rs780358808
|
|
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
|
|
|
NM_000294.3(PHKG2):c.913dup (p.Arg305fs)
|
rs2151310570
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
NM_000294.3(PHKG2):c.928-9C>G
|
rs886051913
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile)
|
rs2110112190
|
|
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
|
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
NM_000340.2(SLC2A2):c.76T>C (p.Tyr26His)
|
rs1716265568
|
|
NM_000340.2(SLC2A2):c.971A>G (p.Tyr324Cys)
|
rs1715394753
|
|
NM_000343.3(SLC5A1):c.-23G>A
|
rs886057400
|
|
NM_000343.4(SLC5A1):c.*1251G>T
|
rs886057411
|
|
NM_000343.4(SLC5A1):c.*1346A>G
|
rs886057412
|
|
NM_000343.4(SLC5A1):c.*1522T>G
|
rs2094057473
|
|
NM_000343.4(SLC5A1):c.*155C>T
|
rs886057405
|
|
NM_000343.4(SLC5A1):c.*183G>C
|
rs886057406
|
|
NM_000343.4(SLC5A1):c.*2352A>T
|
rs2094059162
|
|
NM_000343.4(SLC5A1):c.*2411C>G
|
rs2094059315
|
|
NM_000343.4(SLC5A1):c.*2612T>C
|
rs2094059794
|
|
NM_000343.4(SLC5A1):c.*510G>A
|
rs886057408
|
|
NM_000343.4(SLC5A1):c.*715del
|
rs777276040
|
|
NM_000343.4(SLC5A1):c.-11dup
|
rs541991193
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser)
|
rs2149492818
|
|
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
|
|
|
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys)
|
rs2149492851
|
|
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG
|
rs2149492872
|
|
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
|
rs1359279768
|
|
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val)
|
rs2149494224
|
|
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
|
rs770382788
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
|
|
|
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
|
|
|
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
|
|
|
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
|
|
|
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His)
|
rs2149496672
|
|
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg)
|
rs886057402
|
|
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
|
|
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
|
|
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
|
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
|
rs2094032479
|
|
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
|
|
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
|
|
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg)
|
rs886057403
|
|
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)
|
rs773674977
|
|
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met)
|
rs2149497555
|
|
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
|
rs1334755356
|
|
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
|
|
|
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
|
rs2093943146
|
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
|
|
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
|
|
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn)
|
rs1390196310
|
|
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
|
|
|
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
|
|
|
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu)
|
rs185883847
|
|
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
|
rs2094042528
|
|
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys)
|
rs1396167742
|
|
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
|
|
|
NM_000343.4(SLC5A1):c.1772-5C>A
|
rs886057404
|
|
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val)
|
rs2094053423
|
|
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)
|
rs1277952619
|
|
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
|
|
|
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
|
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
|
|
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
|
|
|
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg)
|
rs1382025396
|
|
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
|
|
|
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
|
rs762929535
|
|
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
|
|
|
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)
|
rs2149487772
|
|
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
|
|
|
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
|
|
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
|
|
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
|
|
|
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
|
|
|
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)
|
rs2149481647
|
|
NM_000343.4(SLC5A1):c.478-11T>A
|
|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
|
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
|
|
|
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
|
|
|
NM_000343.4(SLC5A1):c.583+3G>A
|
|
|
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
|
|
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
|
|
|
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
|
|
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
|
|
|
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu)
|
rs145740433
|
|
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
|
|
|
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr)
|
rs2149492356
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
NM_000343.4(SLC5A1):c.885+5C>T
|
rs199536443
|
|
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys)
|
rs201079555
|
|
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
|
|
|
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
|
rs775681808
|
|
NM_000352.6(ABCC8):c.*93T>A
|
rs886048046
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.1012-6C>T
|
rs764178736
|
|
NM_000352.6(ABCC8):c.1012-7C>G
|
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
|
|
|
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
|
|
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg)
|
rs756808492
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe)
|
rs777461294
|
|
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del)
|
rs1554949238
|
|
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)
|
rs377104807
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
|
rs1956635063
|
|
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln)
|
rs1564955834
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile)
|
rs1591846104
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup)
|
rs1554949190
|
|
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
|
rs1956631543
|
|
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=)
|
rs1591845922
|
|
NM_000352.6(ABCC8):c.1332+17G>C
|
rs193922395
|
|
NM_000352.6(ABCC8):c.1332+3A>G
|
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val)
|
rs1554933525
|
|
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=)
|
rs1391155490
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly)
|
rs1956392066
|
|
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys)
|
rs1956391008
|
|
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
NM_000352.6(ABCC8):c.1468-52G>A
|
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.148+4A>T
|
rs763159607
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)
|
rs1591928988
|
|
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)
|
rs776590557
|
|
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
|
|
|
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del)
|
rs1554933031
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)
|
rs886048055
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1630+5G>A
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1672-473T>G
|
|
|
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile)
|
rs1554926621
|
|
NM_000352.6(ABCC8):c.1752del (p.His584fs)
|
rs1554926539
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr)
|
rs1955706366
|
|
NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)
|
|
|
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
|
|
|
NM_000352.6(ABCC8):c.1938G>A (p.Val646=)
|
rs1591797830
|
|
NM_000352.6(ABCC8):c.2040+100G>T
|
rs948658520
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
NM_000352.6(ABCC8):c.2041-25G>A
|
rs1554924660
|
|
NM_000352.6(ABCC8):c.2057T>A (p.Phe686Tyr)
|
rs1159625966
|
|
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
|
rs1955658642
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
|
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2117-10C>A
|
rs886048053
|
|
NM_000352.6(ABCC8):c.2117-10C>T
|
rs886048053
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
|
rs201724038
|
|
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
|
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2235C>A (p.Ser745Arg)
|
rs200708414
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256-16del
|
rs774508952
|
|
NM_000352.6(ABCC8):c.2256-9C>T
|
rs886048052
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs)
|
rs1955018104
|
|
NM_000352.6(ABCC8):c.2285A>G (p.Asp762Gly)
|
rs771942551
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
NM_000352.6(ABCC8):c.234C>A (p.Thr78=)
|
rs1591928554
|
|
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)
|
rs886038286
|
|
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)
|
rs1554916621
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)
|
rs561593131
|
|
NM_000352.6(ABCC8):c.2539G>C (p.Ala847Pro)
|
rs561593131
|
|
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
|
rs1954765607
|
|
NM_000352.6(ABCC8):c.2574T>C (p.Ala858=)
|
rs1954764675
|
|
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs)
|
rs2133728495
|
|
NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly)
|
rs1954760501
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
|
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
NM_000352.6(ABCC8):c.2694+3G>A
|
rs1554914779
|
|
NM_000352.6(ABCC8):c.2694+4A>T
|
rs1554914771
|
|
NM_000352.6(ABCC8):c.2694+9del
|
rs1564898910
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
|
|
|
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)
|
rs1591749128
|
|
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)
|
rs1954644972
|
|
NM_000352.6(ABCC8):c.279C>T (p.Ile93=)
|
rs550990673
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.2858A>G (p.Gln953Arg)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)
|
rs761160857
|
|
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)
|
rs774603418
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val)
|
rs1431503235
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
|
|
|
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)
|
rs1954577994
|
|
NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys)
|
rs1954577653
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.297C>A (p.Thr99=)
|
rs906180828
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)
|
rs149279510
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)
|
rs745860035
|
|
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
|
rs1954568421
|
|
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)
|
rs1225850029
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=)
|
rs1591744434
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe)
|
rs1954549447
|
|
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)
|
rs778240883
|
|
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)
|
rs1271445653
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3290A>G (p.His1097Arg)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3318A>C (p.Leu1106=)
|
rs750430789
|
|
NM_000352.6(ABCC8):c.3330-13G>A
|
|
|
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)
|
rs757191246
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs)
|
rs1954474111
|
|
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
|
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)
|
rs1954422814
|
|
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)
|
rs1554910736
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)
|
rs778961697
|
|
NM_000352.6(ABCC8):c.3516C>A (p.Ile1172=)
|
rs142155036
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
|
rs193922399
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
NM_000352.6(ABCC8):c.3558-6C>G
|
rs886048050
|
|
NM_000352.6(ABCC8):c.3558-7G>T
|
rs900191703
|
|
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=)
|
rs1038735802
|
|
NM_000352.6(ABCC8):c.35C>T (p.Ser12Leu)
|
rs1283621955
|
|
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
NM_000352.6(ABCC8):c.3650+9C>A
|
rs1591730796
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)
|
rs370636988
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=)
|
rs886048049
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3753+10A>G
|
rs1591718533
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3754-6C>T
|
rs1591717230
|
|
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly)
|
rs797045210
|
|
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup)
|
rs1554906427
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu)
|
rs772094360
|
|
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp)
|
rs1554906389
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
|
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)
|
rs1340859533
|
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg)
|
rs1554905805
|
|
NM_000352.6(ABCC8):c.4016C>A (p.Pro1339Gln)
|
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser)
|
rs1554905775
|
|
NM_000352.6(ABCC8):c.405G>C (p.Leu135=)
|
rs1591916038
|
|
NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=)
|
rs1591714060
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met)
|
rs1953962707
|
|
NM_000352.6(ABCC8):c.4089C>T (p.His1363=)
|
rs1211875269
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr)
|
rs1554905695
|
|
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp)
|
rs746811190
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)
|
rs1554905655
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
|
|
|
NM_000352.6(ABCC8):c.4124G>C (p.Gly1375Ala)
|
rs1953901271
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)
|
rs574684578
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
|
rs1953897394
|
|
NM_000352.6(ABCC8):c.4199-2A>G
|
rs1953885548
|
|
NM_000352.6(ABCC8):c.4199-6A>G
|
rs1591710040
|
|
NM_000352.6(ABCC8):c.4199-8C>T
|
rs886048048
|
|
NM_000352.6(ABCC8):c.4203C>T (p.His1401=)
|
rs1953885229
|
|
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
|
|
|
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)
|
rs373478721
|
|
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)
|
rs1564874456
|
|
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)
|
rs1953879871
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4307+13A>C
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4307+13A>G
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4307+9del
|
rs1564874257
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
|
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4361T>G (p.Leu1454Arg)
|
rs2133398519
|
|
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
|
rs1953847411
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)
|
rs1591705863
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)
|
rs1554904102
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)
|
rs1554904088
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=)
|
rs1953787387
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.4545+4G>C
|
rs760433463
|
|
NM_000352.6(ABCC8):c.4546-8C>T
|
rs1273503048
|
|
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)
|
rs193922406
|
|
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)
|
rs142272833
|
|
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)
|
rs796891223
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
|
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser)
|
rs756552692
|
|
NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly)
|
rs1847954058
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.512dup (p.Thr172fs)
|
rs1564980510
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)
|
rs919281813
|
|
NM_000352.6(ABCC8):c.546G>A (p.Leu182=)
|
rs1591896019
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)
|
rs1057517199
|
|
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
|
rs1957204723
|
|
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del)
|
rs772409200
|
|
NM_000352.6(ABCC8):c.598del (p.Thr200fs)
|
rs1591890137
|
|
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
|
|
|
NM_000352.6(ABCC8):c.639G>A (p.Leu213=)
|
rs1483834388
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
|
|
|
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg)
|
rs1554942704
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000352.6(ABCC8):c.725del (p.Lys242fs)
|
rs1957196622
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
|
rs1433841842
|
|
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
|
rs763302648
|
|
NM_000352.6(ABCC8):c.765C>G (p.Ile255Met)
|
rs753335564
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.822+9G>A
|
rs1007498516
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
NM_000352.6(ABCC8):c.823-7T>A
|
rs1554942148
|
|
NM_000352.6(ABCC8):c.878A>C (p.His293Pro)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.878A>G (p.His293Arg)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp)
|
rs1957153674
|
|
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)
|
rs371802112
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
|
|
|
NM_000352.6(ABCC8):c.947G>A (p.Gly316Glu)
|
rs797045214
|
|
NM_000352.6(ABCC8):c.951A>G (p.Pro317=)
|
rs1591885314
|
|
NM_000352.6(ABCC8):c.954G>C (p.Leu318=)
|
rs771014822
|
|
NM_000352.6(ABCC8):c.97G>A (p.Val33Met)
|
rs768372267
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
NM_000374.4(UROD):c.-57dup
|
rs777548921
|
|
NM_000374.5(UROD):c.*70G>A
|
rs41269105
|
|
NM_000374.5(UROD):c.-1C>T
|
rs886046364
|
|
NM_000374.5(UROD):c.21-12C>T
|
rs775210041
|
|
NM_000374.5(UROD):c.240T>G (p.Ala80=)
|
rs1644820833
|
|
NM_000374.5(UROD):c.383C>A (p.Ala128Asp)
|
rs141792226
|
|
NM_000374.5(UROD):c.463G>A (p.Ala155Thr)
|
rs1457521997
|
|
NM_000374.5(UROD):c.693G>A (p.Lys231=)
|
rs143180539
|
|
NM_000374.5(UROD):c.70T>G (p.Trp24Gly)
|
rs11541966
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
|
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)
|
rs1558697792
|
|
NM_000384.3(APOB):c.12088-23dup
|
rs751121092
|
|
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)
|
rs886055592
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)
|
rs768221258
|
|
NM_000443.4(ABCB4):c.-18G>T
|
rs886062461
|
|
NM_000443.4(ABCB4):c.1005+3A>G
|
rs1811389784
|
|
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu)
|
rs1813502867
|
|
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)
|
rs1811153797
|
|
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
|
|
|
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)
|
rs1811115234
|
|
NM_000443.4(ABCB4):c.135+26A>G
|
|
|
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)
|
rs1562976223
|
|
NM_000443.4(ABCB4):c.147C>A (p.Ser49=)
|
rs8187789
|
|
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)
|
|
|
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu)
|
rs886062460
|
|
NM_000443.4(ABCB4):c.2064+5G>A
|
|
|
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)
|
rs1809631786
|
|
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu)
|
rs1265968550
|
|
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)
|
rs1809490932
|
|
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)
|
rs148865252
|
|
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp)
|
rs1809166231
|
|
NM_000443.4(ABCB4):c.2478+7A>T
|
rs778002144
|
|
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)
|
rs764913373
|
|
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)
|
rs1809055658
|
|
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly)
|
rs2116424316
|
|
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)
|
|
|
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)
|
|
|
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)
|
rs1808202820
|
|
NM_000443.4(ABCB4):c.344+4A>G
|
rs1584768888
|
|
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
|
rs1807938184
|
|
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)
|
rs1160711086
|
|
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)
|
|
|
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)
|
rs542995265
|
|
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)
|
rs1554409388
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)
|
rs864622448
|
|
NM_000455.5(STK11):c.25C>G (p.Leu9Val)
|
rs876661079
|
|
NM_000455.5(STK11):c.31A>T (p.Met11Leu)
|
rs753834428
|
|
NM_000455.5(STK11):c.375-19del
|
rs2080764943
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
NM_000458.4(HNF1B):c.*100del
|
|
|
NM_000458.4(HNF1B):c.*37G>A
|
rs1555818071
|
|
NM_000458.4(HNF1B):c.*409A>C
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*409A>G
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*585T>C
|
rs886052889
|
|
NM_000458.4(HNF1B):c.*938A>G
|
rs574000398
|
|
NM_000458.4(HNF1B):c.-14dup
|
rs193922481
|
|
NM_000458.4(HNF1B):c.-31C>G
|
rs771697321
|
|
NM_000458.4(HNF1B):c.-36del
|
rs756559188
|
|
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe)
|
rs776928989
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)
|
|
|
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
|
|
|
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
|
|
|
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000458.4(HNF1B):c.1180A>G (p.Asn394Asp)
|
rs2032897142
|
|
NM_000458.4(HNF1B):c.11A>G (p.Lys4Arg)
|
|
|
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
|
|
|
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)
|
rs776536485
|
|
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
|
|
|
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg)
|
rs982085453
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg)
|
rs886052891
|
|
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
|
|
|
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
|
|
|
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val)
|
rs2032548578
|
|
NM_000458.4(HNF1B):c.150T>G (p.Pro50=)
|
rs2034119944
|
|
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
|
|
|
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)
|
rs2034119580
|
|
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
|
|
|
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
|
|
|
NM_000458.4(HNF1B):c.1654-11T>C
|
rs193922484
|
|
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC
|
rs386134268
|
|
NM_000458.4(HNF1B):c.1654-14CT[4]
|
rs886052890
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)
|
rs767576616
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.262A>G (p.Thr88Ala)
|
rs1555833051
|
|
NM_000458.4(HNF1B):c.309G>C (p.Ala103=)
|
rs1197263675
|
|
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
|
|
|
NM_000458.4(HNF1B):c.410G>A (p.Arg137Lys)
|
rs2147575425
|
|
NM_000458.4(HNF1B):c.438C>T (p.Asn146=)
|
rs2033930573
|
|
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)
|
rs1568670646
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
|
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
|
|
|
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
|
|
|
NM_000458.4(HNF1B):c.499G>C (p.Ala167Pro)
|
rs757452269
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
|
|
|
NM_000458.4(HNF1B):c.544+7G>A
|
rs1004961534
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
|
|
|
NM_000458.4(HNF1B):c.636G>C (p.Gln212His)
|
rs1388963837
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
|
|
|
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
|
|
|
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
|
|
|
NM_000458.4(HNF1B):c.738G>A (p.Leu246=)
|
rs775562256
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
|
rs2033692404
|
|
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)
|
rs988279557
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.961A>G (p.Asn321Asp)
|
rs1208894321
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000463.3(UGT1A1):c.*133G>A
|
rs561946796
|
|
NM_000463.3(UGT1A1):c.*301G>A
|
rs1700551616
|
|
NM_000463.3(UGT1A1):c.*585G>T
|
rs886055800
|
|
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu)
|
rs1699600557
|
|
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)
|
rs202172337
|
|
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=)
|
rs190427553
|
|
NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro)
|
|
|
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro)
|
rs1697515818
|
|
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg)
|
rs1191873899
|
|
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)
|
rs35350960
|
|
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)
|
rs200903749
|
|
NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile)
|
rs1553612535
|
|
NM_000492.4(CFTR):c.*842del
|
rs886061953
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.109A>T (p.Ile37Leu)
|
rs759721412
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)
|
rs377731410
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.2491-1136_2619+2230del
|
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2914A>G (p.Ile972Val)
|
rs2116069322
|
|
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)
|
rs1554391473
|
|
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)
|
rs758250836
|
|
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)
|
rs1562914212
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)
|
rs777445862
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT
|
rs397515289
|
|
NM_000492.4(CFTR):c.3718-2477C>G
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3874-5122_3963+733del
|
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000514.4(GDNF):c.*116G>T
|
rs1749884263
|
|
NM_000514.4(GDNF):c.*131G>A
|
rs868643238
|
|
NM_000514.4(GDNF):c.*1331G>C
|
rs886060597
|
|
NM_000514.4(GDNF):c.*1360A>G
|
rs1749830427
|
|
NM_000514.4(GDNF):c.*1433A>T
|
rs1749826503
|
|
NM_000514.4(GDNF):c.*1540A>G
|
rs1749823555
|
|
NM_000514.4(GDNF):c.*2059C>T
|
rs886060590
|
|
NM_000514.4(GDNF):c.*2119C>G
|
rs186253947
|
|
NM_000514.4(GDNF):c.*235G>T
|
rs1749874092
|
|
NM_000514.4(GDNF):c.*2446G>A
|
rs1749788877
|
|
NM_000514.4(GDNF):c.*2556T>A
|
rs886060588
|
|
NM_000514.4(GDNF):c.*2646C>G
|
rs929512571
|
|
NM_000514.4(GDNF):c.*2828T>A
|
rs200003002
|
|
NM_000514.4(GDNF):c.*912A>G
|
rs886060600
|
|
NM_000514.4(GDNF):c.-26G>T
|
rs1348074191
|
|
NM_000514.4(GDNF):c.-34G>T
|
rs536856799
|
|
NM_000514.4(GDNF):c.151+9C>G
|
rs780518151
|
|
NM_000514.4(GDNF):c.390G>T (p.Leu130Phe)
|
rs1749906739
|
|
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del)
|
rs1554020079
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.*1037G>T
|
rs767140617
|
|
NM_000525.4(KCNJ11):c.*1415G>A
|
rs955060881
|
|
NM_000525.4(KCNJ11):c.*1415G>C
|
rs955060881
|
|
NM_000525.4(KCNJ11):c.*50G>A
|
rs886048041
|
|
NM_000525.4(KCNJ11):c.*62G>A
|
rs5213
|
|
NM_000525.4(KCNJ11):c.*678C>T
|
rs886048036
|
|
NM_000525.4(KCNJ11):c.*732C>T
|
rs886048035
|
|
NM_000525.4(KCNJ11):c.*826_*827dup
|
rs886048034
|
|
NM_000525.4(KCNJ11):c.*842C>G
|
rs1591693562
|
|
NM_000525.4(KCNJ11):c.*937C>T
|
rs886048033
|
|
NM_000525.4(KCNJ11):c.*99C>G
|
rs886048040
|
|
NM_000525.4(KCNJ11):c.-134G>T
|
rs387906398
|
|
NM_000525.4(KCNJ11):c.-135_-134insCT
|
rs1554901983
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.-154G>A
|
rs539975714
|
|
NM_000525.4(KCNJ11):c.-424C>T
|
rs1953601577
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)
|
rs1564864998
|
|
NM_000525.4(KCNJ11):c.1017G>A (p.Val339=)
|
rs770408379
|
|
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
|
|
|
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
|
|
|
NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=)
|
rs1591694628
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)
|
rs1953567712
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)
|
rs1953591194
|
|
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)
|
rs80356613
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr)
|
rs387906783
|
|
NM_000525.4(KCNJ11):c.238del (p.Leu80fs)
|
rs1953589834
|
|
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn)
|
rs1564865688
|
|
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)
|
rs1554901866
|
|
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys)
|
rs587783667
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg)
|
rs376773562
|
|
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro)
|
rs1953587696
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)
|
rs1591695840
|
|
NM_000525.4(KCNJ11):c.368dup (p.Ser124fs)
|
rs1554901822
|
|
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)
|
rs104894236
|
|
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)
|
rs28936678
|
|
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)
|
rs1404429785
|
|
NM_000525.4(KCNJ11):c.472A>G (p.Met158Val)
|
rs1953585385
|
|
NM_000525.4(KCNJ11):c.472A>T (p.Met158Leu)
|
rs1953585385
|
|
NM_000525.4(KCNJ11):c.490C>A (p.Leu164Ile)
|
rs1554901796
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=)
|
rs1287370462
|
|
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.525C>T (p.His175=)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.532del (p.Ala178fs)
|
rs1554901775
|
|
NM_000525.4(KCNJ11):c.539C>A (p.Thr180Asn)
|
rs1953584002
|
|
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe)
|
rs1564865434
|
|
NM_000525.4(KCNJ11):c.558T>C (p.His186=)
|
rs1953583830
|
|
NM_000525.4(KCNJ11):c.581GCC[1] (p.Arg195del)
|
rs886042779
|
|
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
|
rs193922565
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
|
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)
|
rs886048042
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile)
|
rs1437510576
|
|
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)
|
rs1554901679
|
|
NM_000525.4(KCNJ11):c.803A>T (p.Tyr268Phe)
|
rs1953576929
|
|
NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly)
|
rs794726888
|
|
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)
|
rs1554901658
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
|
rs1953574433
|
|
NM_000525.4(KCNJ11):c.8C>T (p.Ser3Phe)
|
rs587783674
|
|
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)
|
rs377091338
|
|
NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro)
|
rs74339576
|
|
NM_000525.4(KCNJ11):c.905C>A (p.Thr302Asn)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)
|
rs1554901596
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr)
|
rs1554901583
|
|
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)
|
rs587783675
|
|
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)
|
rs113137368
|
|
NM_000534.5(PMS1):c.985C>G (p.Leu329Val)
|
rs770544182
|
|
NM_000535.5(PMS2):c.-101A>G
|
rs587779325
|
|
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
|
|
|
NM_000535.6(PMS2):c.-48C>A
|
rs886062402
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.7(PMS2):c.1001T>C (p.Ile334Thr)
|
rs1234321567
|
|
NM_000535.7(PMS2):c.1004A>C (p.Asn335Thr)
|
rs200513014
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
NM_000535.7(PMS2):c.1006G>A (p.Val336Ile)
|
|
|
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg)
|
rs730881912
|
|
NM_000535.7(PMS2):c.1010C>A (p.Thr337Asn)
|
|
|
NM_000535.7(PMS2):c.1010C>T (p.Thr337Ile)
|
|
|
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
|
rs876660508
|
|
NM_000535.7(PMS2):c.1013C>A (p.Pro338Gln)
|
|
|
NM_000535.7(PMS2):c.1013C>T (p.Pro338Leu)
|
rs1554298804
|
|
NM_000535.7(PMS2):c.1014_1015delinsTT (p.Asp339Tyr)
|
rs2128748680
|
|
NM_000535.7(PMS2):c.1015G>A (p.Asp339Asn)
|
rs780283029
|
|
NM_000535.7(PMS2):c.1015G>C (p.Asp339His)
|
|
|
NM_000535.7(PMS2):c.1016A>C (p.Asp339Ala)
|
rs1783546106
|
|
NM_000535.7(PMS2):c.1016A>G (p.Asp339Gly)
|
rs1783546106
|
|
NM_000535.7(PMS2):c.1018A>G (p.Lys340Glu)
|
rs1783545463
|
|
NM_000535.7(PMS2):c.101G>A (p.Ser34Asn)
|
rs370612538
|
|
NM_000535.7(PMS2):c.101G>C (p.Ser34Thr)
|
rs370612538
|
|
NM_000535.7(PMS2):c.1020_1023delinsTTTC (p.Lys340_Arg341delinsAsnPhe)
|
|
|
NM_000535.7(PMS2):c.1023G>T (p.Arg341Ser)
|
|
|
NM_000535.7(PMS2):c.1025A>G (p.Gln342Arg)
|
rs1554298797
|
|
NM_000535.7(PMS2):c.1025_1027del (p.Gln342_Ile343delinsLeu)
|
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe)
|
rs1554298791
|
|
NM_000535.7(PMS2):c.1033C>G (p.Leu345Val)
|
|
|
NM_000535.7(PMS2):c.1037A>C (p.Gln346Pro)
|
|
|
NM_000535.7(PMS2):c.103C>G (p.Leu35Val)
|
|
|
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.1042G>A (p.Glu348Lys)
|
rs1783538909
|
|
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln)
|
rs1783538909
|
|
NM_000535.7(PMS2):c.1046A>C (p.Lys349Thr)
|
rs1562644757
|
|
NM_000535.7(PMS2):c.1047G>T (p.Lys349Asn)
|
rs1422380612
|
|
NM_000535.7(PMS2):c.1048C>A (p.Leu350Ile)
|
|
|
NM_000535.7(PMS2):c.1048C>G (p.Leu350Val)
|
rs587782875
|
|
NM_000535.7(PMS2):c.1052T>G (p.Leu351Trp)
|
rs1783536235
|
|
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe)
|
rs1060503145
|
|
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser)
|
rs1060503134
|
|
NM_000535.7(PMS2):c.1056_1057delinsAT (p.Ala353Ser)
|
rs2128748122
|
|
NM_000535.7(PMS2):c.1057G>T (p.Ala353Ser)
|
rs587782826
|
|
NM_000535.7(PMS2):c.1058C>A (p.Ala353Glu)
|
rs543676323
|
|
NM_000535.7(PMS2):c.1060G>A (p.Val354Ile)
|
rs750984324
|
|
NM_000535.7(PMS2):c.1063T>A (p.Leu355Ile)
|
rs1783533003
|
|
NM_000535.7(PMS2):c.1063T>G (p.Leu355Val)
|
|
|
NM_000535.7(PMS2):c.1068G>T (p.Lys356Asn)
|
rs528499793
|
|
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly)
|
rs587781918
|
|
NM_000535.7(PMS2):c.1070C>A (p.Thr357Asn)
|
rs980612510
|
|
NM_000535.7(PMS2):c.1070C>G (p.Thr357Ser)
|
rs980612510
|
|
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile)
|
rs980612510
|
|
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala)
|
rs767755376
|
|
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys)
|
rs762299041
|
|
NM_000535.7(PMS2):c.1073C>T (p.Ser358Phe)
|
rs762299041
|
|
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val)
|
rs730881910
|
|
NM_000535.7(PMS2):c.1076T>C (p.Leu359Ser)
|
rs1783527422
|
|
NM_000535.7(PMS2):c.1077G>T (p.Leu359Phe)
|
rs2128747810
|
|
NM_000535.7(PMS2):c.1079T>C (p.Ile360Thr)
|
rs1554298715
|
|
NM_000535.7(PMS2):c.1081G>A (p.Gly361Arg)
|
rs1562644325
|
|
NM_000535.7(PMS2):c.1082G>C (p.Gly361Ala)
|
rs1064793540
|
|
NM_000535.7(PMS2):c.1085T>A (p.Met362Lys)
|
rs2128747721
|
|
NM_000535.7(PMS2):c.1085T>C (p.Met362Thr)
|
|
|
NM_000535.7(PMS2):c.1086G>A (p.Met362Ile)
|
rs1783524610
|
|
NM_000535.7(PMS2):c.1087T>G (p.Phe363Val)
|
rs2128747692
|
|
NM_000535.7(PMS2):c.1089T>G (p.Phe363Leu)
|
|
|
NM_000535.7(PMS2):c.1090G>C (p.Asp364His)
|
rs2128747657
|
|
NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)
|
rs1554298690
|
|
NM_000535.7(PMS2):c.1097A>G (p.Asp366Gly)
|
rs1357791251
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.109A>G (p.Thr37Ala)
|
rs876659883
|
|
NM_000535.7(PMS2):c.109A>T (p.Thr37Ser)
|
|
|
NM_000535.7(PMS2):c.10G>A (p.Ala4Thr)
|
|
|
NM_000535.7(PMS2):c.10G>C (p.Ala4Pro)
|
rs1786257764
|
|
NM_000535.7(PMS2):c.10G>T (p.Ala4Ser)
|
|
|
NM_000535.7(PMS2):c.1104C>G (p.Asn368Lys)
|
rs1554298686
|
|
NM_000535.7(PMS2):c.1109T>C (p.Leu370Pro)
|
rs1338014748
|
|
NM_000535.7(PMS2):c.1111A>C (p.Asn371His)
|
rs1217473969
|
|
NM_000535.7(PMS2):c.1113T>G (p.Asn371Lys)
|
rs989130272
|
|
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile)
|
rs1554298669
|
|
NM_000535.7(PMS2):c.1114G>T (p.Val372Phe)
|
|
|
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly)
|
rs1060503125
|
|
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)
|
rs1060503147
|
|
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg)
|
rs1060503147
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1126C>G (p.Pro376Ala)
|
|
|
NM_000535.7(PMS2):c.1127C>T (p.Pro376Leu)
|
|
|
NM_000535.7(PMS2):c.1129C>A (p.Leu377Met)
|
|
|
NM_000535.7(PMS2):c.1129C>G (p.Leu377Val)
|
rs1583334058
|
|
NM_000535.7(PMS2):c.1129CTG[1] (p.Leu378del)
|
rs1783510412
|
|
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser)
|
rs1554306427
|
|
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro)
|
rs1583334040
|
|
NM_000535.7(PMS2):c.1133T>C (p.Leu378Pro)
|
rs1783510761
|
|
NM_000535.7(PMS2):c.1136A>C (p.Asp379Ala)
|
rs536031711
|
|
NM_000535.7(PMS2):c.1138G>A (p.Val380Ile)
|
|
|
NM_000535.7(PMS2):c.1139T>C (p.Val380Ala)
|
rs748971523
|
|
NM_000535.7(PMS2):c.113C>A (p.Ala38Glu)
|
rs148270248
|
|
NM_000535.7(PMS2):c.1144+3A>T
|
rs1430015665
|
|
NM_000535.7(PMS2):c.1144+4A>G
|
rs1554298642
|
|
NM_000535.7(PMS2):c.1144+5del
|
rs878854032
|
|
NM_000535.7(PMS2):c.1144+6A>G
|
rs990022128
|
|
NM_000535.7(PMS2):c.1144G>A (p.Gly382Ser)
|
rs779512948
|
|
NM_000535.7(PMS2):c.1145-2_1145-1del
|
|
|
NM_000535.7(PMS2):c.1145-5C>G
|
|
|
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp)
|
rs876661243
|
|
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp)
|
rs1583324090
|
|
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser)
|
rs1562637184
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
NM_000535.7(PMS2):c.1150T>G (p.Leu384Val)
|
|
|
NM_000535.7(PMS2):c.1153A>C (p.Ile385Leu)
|
|
|
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu)
|
rs876658440
|
|
NM_000535.7(PMS2):c.115G>T (p.Val39Leu)
|
rs1785697288
|
|
NM_000535.7(PMS2):c.1160T>C (p.Met387Thr)
|
|
|
NM_000535.7(PMS2):c.1162C>T (p.His388Tyr)
|
rs1783188601
|
|
NM_000535.7(PMS2):c.1163A>G (p.His388Arg)
|
rs1178645647
|
|
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
|
rs1562637025
|
|
NM_000535.7(PMS2):c.1166C>T (p.Ala389Val)
|
rs1554298076
|
|
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser)
|
rs1583323871
|
|
NM_000535.7(PMS2):c.1169C>A (p.Ala390Glu)
|
rs587780039
|
|
NM_000535.7(PMS2):c.1169C>G (p.Ala390Gly)
|
rs587780039
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1172A>C (p.Asp391Ala)
|
rs1583323776
|
|
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
|
rs1583323711
|
|
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg)
|
rs1583323684
|
|
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn)
|
rs1197824645
|
|
NM_000535.7(PMS2):c.1184C>G (p.Pro395Arg)
|
rs1783180882
|
|
NM_000535.7(PMS2):c.1186A>C (p.Met396Leu)
|
|
|
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr)
|
rs786202704
|
|
NM_000535.7(PMS2):c.1187T>G (p.Met396Arg)
|
rs786202704
|
|
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile)
|
rs1170825702
|
|
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile)
|
rs1170825702
|
|
NM_000535.7(PMS2):c.1195A>G (p.Lys399Glu)
|
|
|
NM_000535.7(PMS2):c.1196A>G (p.Lys399Arg)
|
rs1583323473
|
|
NM_000535.7(PMS2):c.1197G>C (p.Lys399Asn)
|
|
|
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn)
|
rs757730609
|
|
NM_000535.7(PMS2):c.1198C>G (p.Gln400Glu)
|
|
|
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg)
|
rs148069478
|
|
NM_000535.7(PMS2):c.119A>C (p.Lys40Thr)
|
|
|
NM_000535.7(PMS2):c.11C>T (p.Ala4Val)
|
rs745361721
|
|
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)
|
rs1284362486
|
|
NM_000535.7(PMS2):c.1201G>T (p.Asp401Tyr)
|
rs1284362486
|
|
NM_000535.7(PMS2):c.1203T>A (p.Asp401Glu)
|
rs1057522327
|
|
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)
|
rs587782789
|
|
NM_000535.7(PMS2):c.1204C>G (p.Gln402Glu)
|
rs587782789
|
|
NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)
|
rs1583323301
|
|
NM_000535.7(PMS2):c.1208C>A (p.Ser403Tyr)
|
rs1004189664
|
|
NM_000535.7(PMS2):c.1210C>T (p.Pro404Ser)
|
|
|
NM_000535.7(PMS2):c.1211C>T (p.Pro404Leu)
|
rs536111818
|
|
NM_000535.7(PMS2):c.1213T>C (p.Ser405Pro)
|
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
NM_000535.7(PMS2):c.1220G>A (p.Arg407Lys)
|
rs766400994
|
|
NM_000535.7(PMS2):c.1220G>C (p.Arg407Thr)
|
|
|
NM_000535.7(PMS2):c.1222A>G (p.Thr408Ala)
|
rs1783169137
|
|
NM_000535.7(PMS2):c.1225G>A (p.Gly409Arg)
|
rs864622553
|
|
NM_000535.7(PMS2):c.1226G>A (p.Gly409Glu)
|
rs1554298002
|
|
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val)
|
rs1554298002
|
|
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys)
|
rs1358586679
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
NM_000535.7(PMS2):c.1231G>A (p.Glu411Lys)
|
rs1159969834
|
|
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu)
|
rs786202871
|
|
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala)
|
rs587782832
|
|
NM_000535.7(PMS2):c.1232A>G (p.Glu411Gly)
|
rs587782832
|
|
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)
|
rs587780040
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
NM_000535.7(PMS2):c.1237_1239delinsGGG (p.Lys413Gly)
|
rs1562635824
|
|
NM_000535.7(PMS2):c.1238A>C (p.Lys413Thr)
|
rs1445088475
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1239A>C (p.Lys413Asn)
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1240G>A (p.Asp414Asn)
|
rs370752614
|
|
NM_000535.7(PMS2):c.1240G>C (p.Asp414His)
|
rs370752614
|
|
NM_000535.7(PMS2):c.1241A>T (p.Asp414Val)
|
|
|
NM_000535.7(PMS2):c.1243G>C (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1247C>A (p.Ser416Tyr)
|
rs1554297981
|
|
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys)
|
rs1554297981
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.1251T>G (p.Ile417Met)
|
rs1057521136
|
|
NM_000535.7(PMS2):c.1253C>G (p.Ser418Cys)
|
rs587782640
|
|
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly)
|
rs1554297975
|
|
NM_000535.7(PMS2):c.1256G>C (p.Arg419Thr)
|
rs1783156550
|
|
NM_000535.7(PMS2):c.1256G>T (p.Arg419Ile)
|
|
|
NM_000535.7(PMS2):c.1258C>G (p.Leu420Val)
|
rs1783155735
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del)
|
rs1064794820
|
|
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu)
|
rs778482303
|
|
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly)
|
rs1562635355
|
|
NM_000535.7(PMS2):c.1266G>C (p.Glu422Asp)
|
rs138049175
|
|
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)
|
rs587778619
|
|
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val)
|
rs756883400
|
|
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu)
|
rs1562635229
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
NM_000535.7(PMS2):c.1274C>G (p.Ser425Cys)
|
rs1783150023
|
|
NM_000535.7(PMS2):c.1274C>T (p.Ser425Phe)
|
|
|
NM_000535.7(PMS2):c.1276C>G (p.Leu426Val)
|
|
|
NM_000535.7(PMS2):c.1276C>T (p.Leu426Phe)
|
rs2128734575
|
|
NM_000535.7(PMS2):c.1277T>A (p.Leu426His)
|
rs1783149672
|
|
NM_000535.7(PMS2):c.127G>A (p.Val43Ile)
|
rs587780042
|
|
NM_000535.7(PMS2):c.1280G>T (p.Arg427Leu)
|
|
|
NM_000535.7(PMS2):c.1282C>T (p.His428Tyr)
|
rs1554297948
|
|
NM_000535.7(PMS2):c.1283A>G (p.His428Arg)
|
rs1583322096
|
|
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala)
|
rs1450566410
|
|
NM_000535.7(PMS2):c.1285A>T (p.Thr429Ser)
|
|
|
NM_000535.7(PMS2):c.1286C>A (p.Thr429Lys)
|
|
|
NM_000535.7(PMS2):c.1288A>T (p.Thr430Ser)
|
rs587781382
|
|
NM_000535.7(PMS2):c.1289C>G (p.Thr430Arg)
|
rs1583322001
|
|
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser)
|
rs1583321984
|
|
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys)
|
rs1562635023
|
|
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr)
|
rs1064796375
|
|
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg)
|
rs1554297919
|
|
NM_000535.7(PMS2):c.1301C>T (p.Pro434Leu)
|
rs1554297919
|
|
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)
|
rs148956636
|
|
NM_000535.7(PMS2):c.1304A>G (p.His435Arg)
|
|
|
NM_000535.7(PMS2):c.1305C>G (p.His435Gln)
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
NM_000535.7(PMS2):c.1307G>A (p.Ser436Asn)
|
rs876658441
|
|
NM_000535.7(PMS2):c.1308C>G (p.Ser436Arg)
|
|
|
NM_000535.7(PMS2):c.1310C>T (p.Pro437Leu)
|
rs1783139001
|
|
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln)
|
rs878854033
|
|
NM_000535.7(PMS2):c.1312A>G (p.Lys438Glu)
|
rs878854033
|
|
NM_000535.7(PMS2):c.1314G>T (p.Lys438Asn)
|
|
|
NM_000535.7(PMS2):c.1315A>G (p.Thr439Ala)
|
|
|
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr)
|
rs762894051
|
|
NM_000535.7(PMS2):c.1318C>T (p.Pro440Ser)
|
|
|
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu)
|
rs1064793233
|
|
NM_000535.7(PMS2):c.131A>G (p.Glu44Gly)
|
rs876659955
|
|
NM_000535.7(PMS2):c.1321G>C (p.Glu441Gln)
|
rs1783135008
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
NM_000535.7(PMS2):c.1324C>A (p.Pro442Thr)
|
|
|
NM_000535.7(PMS2):c.1324C>T (p.Pro442Ser)
|
rs1783134322
|
|
NM_000535.7(PMS2):c.1325C>T (p.Pro442Leu)
|
|
|
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly)
|
rs1222691058
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
NM_000535.7(PMS2):c.132A>C (p.Glu44Asp)
|
|
|
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met)
|
rs1241272236
|
|
NM_000535.7(PMS2):c.1334G>A (p.Ser445Asn)
|
rs1554297872
|
|
NM_000535.7(PMS2):c.1336C>G (p.Pro446Ala)
|
|
|
NM_000535.7(PMS2):c.1336C>T (p.Pro446Ser)
|
rs2128733048
|
|
NM_000535.7(PMS2):c.1339C>G (p.Leu447Val)
|
rs1783129874
|
|
NM_000535.7(PMS2):c.1342G>A (p.Gly448Arg)
|
rs786203757
|
|
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu)
|
rs1060503118
|
|
NM_000535.7(PMS2):c.1343G>C (p.Gly448Ala)
|
rs1060503118
|
|
NM_000535.7(PMS2):c.1349A>G (p.Lys450Arg)
|
rs1783126726
|
|
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.1352G>C (p.Arg451Thr)
|
rs876660834
|
|
NM_000535.7(PMS2):c.1353G>C (p.Arg451Ser)
|
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1354G>T (p.Gly452Cys)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1355G>C (p.Gly452Ala)
|
|
|
NM_000535.7(PMS2):c.1355G>T (p.Gly452Val)
|
rs1490598044
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.1357A>T (p.Met453Leu)
|
|
|
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr)
|
rs1060503130
|
|
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)
|
rs1060503130
|
|
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile)
|
rs886062401
|
|
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile)
|
rs886062401
|
|
NM_000535.7(PMS2):c.1360C>G (p.Leu454Val)
|
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
NM_000535.7(PMS2):c.1366T>G (p.Ser456Ala)
|
rs2128732309
|
|
NM_000535.7(PMS2):c.1369A>G (p.Ser457Gly)
|
rs2128732252
|
|
NM_000535.7(PMS2):c.136A>G (p.Ser46Gly)
|
rs1554306350
|
|
NM_000535.7(PMS2):c.1372A>G (p.Thr458Ala)
|
rs779306532
|
|
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn)
|
rs755348833
|
|
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile)
|
rs755348833
|
|
NM_000535.7(PMS2):c.1376C>T (p.Ser459Leu)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
NM_000535.7(PMS2):c.1385T>A (p.Ile462Asn)
|
rs1562633639
|
|
NM_000535.7(PMS2):c.1386C>G (p.Ile462Met)
|
rs750448069
|
|
NM_000535.7(PMS2):c.1390G>C (p.Asp464His)
|
|
|
NM_000535.7(PMS2):c.1391A>T (p.Asp464Val)
|
rs1583320657
|
|
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)
|
rs1060503135
|
|
NM_000535.7(PMS2):c.1394A>C (p.Lys465Thr)
|
rs141084758
|
|
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn)
|
rs1208428952
|
|
NM_000535.7(PMS2):c.1396G>A (p.Gly466Ser)
|
rs1783106566
|
|
NM_000535.7(PMS2):c.1396G>C (p.Gly466Arg)
|
rs1783106566
|
|
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp)
|
rs1339878885
|
|
NM_000535.7(PMS2):c.1397G>T (p.Gly466Val)
|
rs1339878885
|
|
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu)
|
rs373611083
|
|
NM_000535.7(PMS2):c.13G>A (p.Glu5Lys)
|
rs372539944
|
|
NM_000535.7(PMS2):c.1402C>G (p.Leu468Val)
|
rs759306219
|
|
NM_000535.7(PMS2):c.1406G>A (p.Arg469Lys)
|
rs1783102663
|
|
NM_000535.7(PMS2):c.1409C>T (p.Pro470Leu)
|
rs1783101060
|
|
NM_000535.7(PMS2):c.1415A>G (p.Lys472Arg)
|
|
|
NM_000535.7(PMS2):c.1419G>C (p.Glu473Asp)
|
rs2128731146
|
|
NM_000535.7(PMS2):c.1420G>A (p.Ala474Thr)
|
rs373114291
|
|
NM_000535.7(PMS2):c.1422A>G (p.Ala474=)
|
rs1057522125
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
NM_000535.7(PMS2):c.1423G>T (p.Val475Leu)
|
rs864622579
|
|
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu)
|
rs587781827
|
|
NM_000535.7(PMS2):c.1424T>G (p.Val475Gly)
|
rs587781827
|
|
NM_000535.7(PMS2):c.1427G>A (p.Ser476Asn)
|
|
|
NM_000535.7(PMS2):c.1427G>C (p.Ser476Thr)
|
rs1583320215
|
|
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr)
|
rs1554297760
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
NM_000535.7(PMS2):c.142G>C (p.Asp48His)
|
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
|
NM_000535.7(PMS2):c.1430C>G (p.Ser477Cys)
|
|
|
NM_000535.7(PMS2):c.1430C>T (p.Ser477Phe)
|
|
|
NM_000535.7(PMS2):c.1433G>C (p.Ser478Thr)
|
rs748643694
|
|
NM_000535.7(PMS2):c.1433G>T (p.Ser478Ile)
|
rs748643694
|
|
NM_000535.7(PMS2):c.1435C>T (p.His479Tyr)
|
rs376344586
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
NM_000535.7(PMS2):c.1442C>A (p.Pro481His)
|
rs1168365577
|
|
NM_000535.7(PMS2):c.1442C>G (p.Pro481Arg)
|
|
|
NM_000535.7(PMS2):c.1445G>C (p.Ser482Thr)
|
rs2128730498
|
|
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)
|
rs1583319965
|
|
NM_000535.7(PMS2):c.1449C>G (p.Asp483Glu)
|
rs1583319929
|
|
NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg)
|
rs1583319873
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
NM_000535.7(PMS2):c.1456G>A (p.Asp486Asn)
|
|
|
NM_000535.7(PMS2):c.1456G>C (p.Asp486His)
|
rs2128730228
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
NM_000535.7(PMS2):c.1459A>G (p.Arg487Gly)
|
|
|
NM_000535.7(PMS2):c.145G>A (p.Ala49Thr)
|
rs1583418527
|
|
NM_000535.7(PMS2):c.145G>C (p.Ala49Pro)
|
|
|
NM_000535.7(PMS2):c.1460G>C (p.Arg487Thr)
|
rs1783084707
|
|
NM_000535.7(PMS2):c.1462G>A (p.Ala488Thr)
|
rs1783084396
|
|
NM_000535.7(PMS2):c.1463C>G (p.Ala488Gly)
|
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
NM_000535.7(PMS2):c.1467G>C (p.Glu489Asp)
|
rs542522853
|
|
NM_000535.7(PMS2):c.1468G>T (p.Val490Leu)
|
rs1783082219
|
|
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly)
|
rs786203255
|
|
NM_000535.7(PMS2):c.146C>T (p.Ala49Val)
|
rs786203255
|
|
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys)
|
rs1064794577
|
|
NM_000535.7(PMS2):c.1471G>C (p.Glu491Gln)
|
rs1064794577
|
|
NM_000535.7(PMS2):c.1471_1473del (p.Glu491del)
|
rs764854869
|
|
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
|
rs530105089
|
|
NM_000535.7(PMS2):c.1474A>C (p.Lys492Gln)
|
rs1783080233
|
|
NM_000535.7(PMS2):c.1474_1476del (p.Lys492del)
|
rs1783079655
|
|
NM_000535.7(PMS2):c.1475A>G (p.Lys492Arg)
|
rs1583319590
|
|
NM_000535.7(PMS2):c.1476G>T (p.Lys492Asn)
|
rs766309532
|
|
NM_000535.7(PMS2):c.1477G>C (p.Asp493His)
|
rs148642064
|
|
NM_000535.7(PMS2):c.1481C>G (p.Ser494Trp)
|
rs587782602
|
|
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg)
|
rs1554297701
|
|
NM_000535.7(PMS2):c.1484G>A (p.Gly495Glu)
|
rs1064793846
|
|
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala)
|
rs1064793846
|
|
NM_000535.7(PMS2):c.1486C>A (p.His496Asn)
|
rs1783075126
|
|
NM_000535.7(PMS2):c.1488C>A (p.His496Gln)
|
|
|
NM_000535.7(PMS2):c.1489G>T (p.Gly497Cys)
|
rs749826312
|
|
NM_000535.7(PMS2):c.1493G>A (p.Ser498Asn)
|
rs1783073277
|
|
NM_000535.7(PMS2):c.1494C>G (p.Ser498Arg)
|
|
|
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala)
|
rs1060503117
|
|
NM_000535.7(PMS2):c.1496C>G (p.Thr499Ser)
|
|
|
NM_000535.7(PMS2):c.1498T>C (p.Ser500Pro)
|
rs1783071898
|
|
NM_000535.7(PMS2):c.1499C>A (p.Ser500Tyr)
|
|
|
NM_000535.7(PMS2):c.149G>T (p.Gly50Val)
|
|
|
NM_000535.7(PMS2):c.14A>G (p.Glu5Gly)
|
rs876659080
|
|
NM_000535.7(PMS2):c.1500_1501delinsTC (p.Val501Leu)
|
|
|
NM_000535.7(PMS2):c.1504G>A (p.Asp502Asn)
|
|
|
NM_000535.7(PMS2):c.1507T>C (p.Ser503Pro)
|
rs864622497
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
NM_000535.7(PMS2):c.1508C>T (p.Ser503Phe)
|
rs777920014
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
NM_000535.7(PMS2):c.1513G>A (p.Gly505Arg)
|
rs1554297662
|
|
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp)
|
rs1554297662
|
|
NM_000535.7(PMS2):c.1514G>A (p.Gly505Glu)
|
|
|
NM_000535.7(PMS2):c.1514G>T (p.Gly505Val)
|
rs1783066325
|
|
NM_000535.7(PMS2):c.1517T>A (p.Phe506Tyr)
|
rs1325463342
|
|
NM_000535.7(PMS2):c.1519A>T (p.Ser507Cys)
|
|
|
NM_000535.7(PMS2):c.151G>A (p.Ala51Thr)
|
|
|
NM_000535.7(PMS2):c.1520G>C (p.Ser507Thr)
|
|
|
NM_000535.7(PMS2):c.1522A>G (p.Ile508Val)
|
rs63750272
|
|
NM_000535.7(PMS2):c.1522A>T (p.Ile508Phe)
|
rs63750272
|
|
NM_000535.7(PMS2):c.1525C>T (p.Pro509Ser)
|
|
|
NM_000535.7(PMS2):c.1526C>T (p.Pro509Leu)
|
rs63750503
|
|
NM_000535.7(PMS2):c.1529A>G (p.Asp510Gly)
|
|
|
NM_000535.7(PMS2):c.152C>A (p.Ala51Asp)
|
rs1583418405
|
|
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser)
|
rs2228007
|
|
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1534G>T (p.Gly512Cys)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp)
|
rs1450081432
|
|
NM_000535.7(PMS2):c.1537A>G (p.Ser513Gly)
|
rs1583318731
|
|
NM_000535.7(PMS2):c.1537A>T (p.Ser513Cys)
|
rs1583318731
|
|
NM_000535.7(PMS2):c.1538G>C (p.Ser513Thr)
|
rs1562631126
|
|
NM_000535.7(PMS2):c.1540C>A (p.His514Asn)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1541A>C (p.His514Pro)
|
rs2128728425
|
|
NM_000535.7(PMS2):c.1544G>A (p.Cys515Tyr)
|
|
|
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly)
|
rs1554297592
|
|
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del)
|
rs970418297
|
|
NM_000535.7(PMS2):c.1547G>A (p.Ser516Asn)
|
rs2128728322
|
|
NM_000535.7(PMS2):c.1548C>A (p.Ser516Arg)
|
|
|
NM_000535.7(PMS2):c.154A>C (p.Thr52Pro)
|
|
|
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn)
|
rs1562630934
|
|
NM_000535.7(PMS2):c.1550G>T (p.Ser517Ile)
|
rs1562630934
|
|
NM_000535.7(PMS2):c.1551C>T (p.Ser517=)
|
rs587782479
|
|
NM_000535.7(PMS2):c.1552G>C (p.Glu518Gln)
|
|
|
NM_000535.7(PMS2):c.1553A>T (p.Glu518Val)
|
|
|
NM_000535.7(PMS2):c.1556A>C (p.Tyr519Ser)
|
|
|
NM_000535.7(PMS2):c.1558G>A (p.Ala520Thr)
|
rs1554297573
|
|
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser)
|
rs1583418387
|
|
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr)
|
rs1164227556
|
|
NM_000535.7(PMS2):c.1561G>T (p.Ala521Ser)
|
|
|
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
|
rs1554297553
|
|
NM_000535.7(PMS2):c.1564A>T (p.Ser522Cys)
|
rs1554297553
|
|
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr)
|
rs1783049434
|
|
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
|
|
|
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys)
|
rs1583318261
|
|
NM_000535.7(PMS2):c.1568C>T (p.Ser523Phe)
|
rs1583318261
|
|
NM_000535.7(PMS2):c.1573G>A (p.Gly525Arg)
|
rs1265449448
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
|
|
NM_000535.7(PMS2):c.1575G>T (p.Gly525=)
|
rs1783045939
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1576G>C (p.Asp526His)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu)
|
rs63750236
|
|
NM_000535.7(PMS2):c.1579A>G (p.Arg527Gly)
|
rs756823316
|
|
NM_000535.7(PMS2):c.157A>C (p.Asn53His)
|
|
|
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp)
|
rs1554306309
|
|
NM_000535.7(PMS2):c.157A>T (p.Asn53Tyr)
|
rs1554306309
|
|
NM_000535.7(PMS2):c.1580G>C (p.Arg527Thr)
|
rs1783042729
|
|
NM_000535.7(PMS2):c.1588C>A (p.Gln530Lys)
|
rs751261543
|
|
NM_000535.7(PMS2):c.1588C>G (p.Gln530Glu)
|
rs751261543
|
|
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg)
|
rs1783039464
|
|
NM_000535.7(PMS2):c.158A>G (p.Asn53Ser)
|
rs1272484713
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.1594C>T (p.His532Tyr)
|
rs1783037687
|
|
NM_000535.7(PMS2):c.1595A>G (p.His532Arg)
|
rs1554297505
|
|
NM_000535.7(PMS2):c.1600G>T (p.Asp534Tyr)
|
rs1583317784
|
|
NM_000535.7(PMS2):c.1604C>A (p.Ser535Tyr)
|
|
|
NM_000535.7(PMS2):c.1604C>T (p.Ser535Phe)
|
rs762579299
|
|
NM_000535.7(PMS2):c.1606C>G (p.Gln536Glu)
|
|
|
NM_000535.7(PMS2):c.160A>G (p.Ile54Val)
|
|
|
NM_000535.7(PMS2):c.1610A>G (p.Glu537Gly)
|
|
|
NM_000535.7(PMS2):c.1613A>G (p.Lys538Arg)
|
|
|
NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser)
|
rs1783031685
|
|
NM_000535.7(PMS2):c.1616C>A (p.Ala539Glu)
|
|
|
NM_000535.7(PMS2):c.1619C>A (p.Pro540His)
|
rs1562629708
|
|
NM_000535.7(PMS2):c.1619C>G (p.Pro540Arg)
|
rs1562629708
|
|
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr)
|
rs764565924
|
|
NM_000535.7(PMS2):c.1625C>T (p.Thr542Ile)
|
|
|
NM_000535.7(PMS2):c.1628A>G (p.Asp543Gly)
|
rs1060503146
|
|
NM_000535.7(PMS2):c.162T>C (p.Ile54=)
|
|
|
NM_000535.7(PMS2):c.163+5G>C
|
|
|
NM_000535.7(PMS2):c.1630G>T (p.Asp544Tyr)
|
rs876660139
|
|
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val)
|
rs1562629531
|
|
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)
|
rs786203439
|
|
NM_000535.7(PMS2):c.1632C>G (p.Asp544Glu)
|
rs786203439
|
|
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
|
rs1247571278
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.1636T>A (p.Phe546Ile)
|
|
|
NM_000535.7(PMS2):c.1637T>G (p.Phe546Cys)
|
rs2128726334
|
|
NM_000535.7(PMS2):c.1639T>C (p.Ser547Pro)
|
rs1554297423
|
|
NM_000535.7(PMS2):c.164-10A>G
|
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
NM_000535.7(PMS2):c.1643A>C (p.Asp548Ala)
|
rs1269515306
|
|
NM_000535.7(PMS2):c.1645G>A (p.Val549Met)
|
rs1199136734
|
|
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala)
|
rs779150753
|
|
NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)
|
rs779150753
|
|
NM_000535.7(PMS2):c.1648G>T (p.Asp550Tyr)
|
rs2128726061
|
|
NM_000535.7(PMS2):c.1649A>G (p.Asp550Gly)
|
|
|
NM_000535.7(PMS2):c.164A>T (p.Asp55Val)
|
rs587781846
|
|
NM_000535.7(PMS2):c.1651T>C (p.Cys551Arg)
|
|
|
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe)
|
rs1554297409
|
|
NM_000535.7(PMS2):c.1654C>A (p.His552Asn)
|
rs786204114
|
|
NM_000535.7(PMS2):c.1655A>G (p.His552Arg)
|
|
|
NM_000535.7(PMS2):c.1658C>T (p.Ser553Leu)
|
|
|
NM_000535.7(PMS2):c.1662C>A (p.Asn554Lys)
|
|
|
NM_000535.7(PMS2):c.1663C>A (p.Gln555Lys)
|
|
|
NM_000535.7(PMS2):c.1664A>G (p.Gln555Arg)
|
rs745836140
|
|
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln)
|
rs786202656
|
|
NM_000535.7(PMS2):c.1667A>G (p.Glu556Gly)
|
rs2128725672
|
|
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile)
|
rs371011390
|
|
NM_000535.7(PMS2):c.1670A>G (p.Asp557Gly)
|
rs1562629043
|
|
NM_000535.7(PMS2):c.1670A>T (p.Asp557Val)
|
rs1562629043
|
|
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala)
|
rs781106967
|
|
NM_000535.7(PMS2):c.1672A>T (p.Thr558Ser)
|
|
|
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile)
|
rs114037612
|
|
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
NM_000535.7(PMS2):c.1679G>C (p.Cys560Ser)
|
rs757989905
|
|
NM_000535.7(PMS2):c.1681A>G (p.Lys561Glu)
|
rs1583316925
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
NM_000535.7(PMS2):c.1684T>C (p.Phe562Leu)
|
rs1583316879
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
NM_000535.7(PMS2):c.1687C>G (p.Arg563Gly)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1690G>A (p.Val564Ile)
|
|
|
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)
|
rs786202870
|
|
NM_000535.7(PMS2):c.1695G>T (p.Leu565Phe)
|
|
|
NM_000535.7(PMS2):c.1696C>A (p.Pro566Thr)
|
|
|
NM_000535.7(PMS2):c.16A>T (p.Ser6Cys)
|
rs1786254768
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
NM_000535.7(PMS2):c.1701G>C (p.Gln567His)
|
rs1783006792
|
|
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser)
|
rs786204115
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1705A>C (p.Thr569Pro)
|
rs762151417
|
|
NM_000535.7(PMS2):c.1705A>T (p.Thr569Ser)
|
|
|
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
|
rs115670442
|
|
NM_000535.7(PMS2):c.1709A>G (p.Asn570Ser)
|
rs2128724896
|
|
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr)
|
rs765474498
|
|
NM_000535.7(PMS2):c.1712T>A (p.Leu571His)
|
rs1060503128
|
|
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)
|
rs1060503128
|
|
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser)
|
rs63751023
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
NM_000535.7(PMS2):c.1717A>G (p.Thr573Ala)
|
|
|
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)
|
rs876660076
|
|
NM_000535.7(PMS2):c.1723A>C (p.Asn575His)
|
|
|
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser)
|
rs863224677
|
|
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile)
|
rs1554297301
|
|
NM_000535.7(PMS2):c.1730A>T (p.Lys577Met)
|
rs2128724485
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1741A>G (p.Lys581Glu)
|
rs63750598
|
|
NM_000535.7(PMS2):c.1742A>T (p.Lys581Ile)
|
rs1554297289
|
|
NM_000535.7(PMS2):c.1743A>C (p.Lys581Asn)
|
|
|
NM_000535.7(PMS2):c.1744G>A (p.Glu582Lys)
|
rs63750739
|
|
NM_000535.7(PMS2):c.1745A>G (p.Glu582Gly)
|
|
|
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val)
|
rs1562627848
|
|
NM_000535.7(PMS2):c.1750A>G (p.Ile584Val)
|
rs1782990154
|
|
NM_000535.7(PMS2):c.1753C>G (p.Leu585Val)
|
|
|
NM_000535.7(PMS2):c.1753C>T (p.Leu585Phe)
|
rs63750947
|
|
NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro)
|
rs1562627766
|
|
NM_000535.7(PMS2):c.1757C>G (p.Ser586Cys)
|
rs1335723102
|
|
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.1759A>G (p.Ser587Gly)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.175A>G (p.Lys59Glu)
|
rs2128830628
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
NM_000535.7(PMS2):c.1762T>G (p.Ser588Ala)
|
|
|
NM_000535.7(PMS2):c.1763C>G (p.Ser588Cys)
|
rs2128723884
|
|
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val)
|
rs63750476
|
|
NM_000535.7(PMS2):c.176A>T (p.Lys59Met)
|
rs2128830591
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser)
|
rs1583315717
|
|
NM_000535.7(PMS2):c.1772_1773delinsTG (p.Cys591Leu)
|
|
|
NM_000535.7(PMS2):c.1774C>A (p.Gln592Lys)
|
rs63750994
|
|
NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)
|
rs63750994
|
|
NM_000535.7(PMS2):c.1775A>G (p.Gln592Arg)
|
|
|
NM_000535.7(PMS2):c.177G>C (p.Lys59Asn)
|
rs1785429079
|
|
NM_000535.7(PMS2):c.1783G>A (p.Val595Ile)
|
|
|
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu)
|
rs1171070752
|
|
NM_000535.7(PMS2):c.1783G>T (p.Val595Leu)
|
|
|
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala)
|
rs1554297236
|
|
NM_000535.7(PMS2):c.1784_1804del (p.Val595_Ser601del)
|
rs1782974131
|
|
NM_000535.7(PMS2):c.1786A>C (p.Asn596His)
|
|
|
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp)
|
rs1583315513
|
|
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro)
|
rs1805318
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr)
|
rs587782176
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
NM_000535.7(PMS2):c.1795G>C (p.Asp599His)
|
|
|
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1797C>G (p.Asp599Glu)
|
rs1261280629
|
|
NM_000535.7(PMS2):c.1798A>T (p.Met600Leu)
|
rs1304634005
|
|
NM_000535.7(PMS2):c.1799T>C (p.Met600Thr)
|
|
|
NM_000535.7(PMS2):c.179A>G (p.Asp60Gly)
|
rs771348650
|
|
NM_000535.7(PMS2):c.17G>A (p.Ser6Asn)
|
rs587781112
|
|
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr)
|
rs587781112
|
|
NM_000535.7(PMS2):c.17G>T (p.Ser6Ile)
|
rs587781112
|
|
NM_000535.7(PMS2):c.1800G>A (p.Met600Ile)
|
rs63750260
|
|
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
|
|
|
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe)
|
rs770841005
|
|
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1811A>G (p.Gln604Arg)
|
rs2128723018
|
|
NM_000535.7(PMS2):c.1812G>C (p.Gln604His)
|
rs63750788
|
|
NM_000535.7(PMS2):c.1813G>A (p.Val605Ile)
|
rs1782971627
|
|
NM_000535.7(PMS2):c.1813G>C (p.Val605Leu)
|
|
|
NM_000535.7(PMS2):c.1819G>T (p.Val607Leu)
|
rs786204109
|
|
NM_000535.7(PMS2):c.1820T>A (p.Val607Glu)
|
|
|
NM_000535.7(PMS2):c.1820T>C (p.Val607Ala)
|
|
|
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val)
|
rs1562627020
|
|
NM_000535.7(PMS2):c.1825G>A (p.Val609Met)
|
|
|
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala)
|
rs1583315021
|
|
NM_000535.7(PMS2):c.1828A>C (p.Lys610Gln)
|
rs199700509
|
|
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met)
|
rs1554297188
|
|
NM_000535.7(PMS2):c.1833TAA[1] (p.Asn612del)
|
rs1583314881
|
|
NM_000535.7(PMS2):c.1834A>G (p.Asn612Asp)
|
rs1782966310
|
|
NM_000535.7(PMS2):c.1838A>C (p.Lys613Thr)
|
|
|
NM_000535.7(PMS2):c.1838A>T (p.Lys613Met)
|
rs2128722605
|
|
NM_000535.7(PMS2):c.1840A>G (p.Lys614Glu)
|
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
|
|
|
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile)
|
rs1782962260
|
|
NM_000535.7(PMS2):c.1843G>T (p.Val615Phe)
|
|
|
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala)
|
rs1060503112
|
|
NM_000535.7(PMS2):c.1846G>T (p.Val616Leu)
|
rs1782961561
|
|
NM_000535.7(PMS2):c.1847T>A (p.Val616Glu)
|
|
|
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala)
|
rs1583314800
|
|
NM_000535.7(PMS2):c.1847T>G (p.Val616Gly)
|
|
|
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)
|
rs864622096
|
|
NM_000535.7(PMS2):c.184G>A (p.Gly62Arg)
|
rs1182171111
|
|
NM_000535.7(PMS2):c.1850C>G (p.Pro617Arg)
|
rs747785888
|
|
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro)
|
rs63751253
|
|
NM_000535.7(PMS2):c.1855G>A (p.Asp619Asn)
|
rs1179605136
|
|
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu)
|
rs876661271
|
|
NM_000535.7(PMS2):c.1862C>G (p.Ser621Cys)
|
rs1583314570
|
|
NM_000535.7(PMS2):c.1868G>A (p.Ser623Asn)
|
rs1562626526
|
|
NM_000535.7(PMS2):c.1870T>G (p.Ser624Ala)
|
rs63750980
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro)
|
rs587779331
|
|
NM_000535.7(PMS2):c.1876G>T (p.Ala626Ser)
|
rs587779331
|
|
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp)
|
rs786203121
|
|
NM_000535.7(PMS2):c.1879A>G (p.Lys627Glu)
|
rs2128721900
|
|
NM_000535.7(PMS2):c.187_192del (p.Val63_Asp64del)
|
|
|
NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)
|
|
|
NM_000535.7(PMS2):c.1885A>G (p.Ile629Val)
|
rs63751209
|
|
NM_000535.7(PMS2):c.1886T>C (p.Ile629Thr)
|
rs1782948843
|
|
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)
|
rs1583314135
|
|
NM_000535.7(PMS2):c.1890G>C (p.Lys630Asn)
|
rs1782948207
|
|
NM_000535.7(PMS2):c.1890G>T (p.Lys630Asn)
|
|
|
NM_000535.7(PMS2):c.1895T>C (p.Leu632Ser)
|
rs2128721689
|
|
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
|
rs1583314065
|
|
NM_000535.7(PMS2):c.1898A>G (p.His633Arg)
|
rs63750024
|
|
NM_000535.7(PMS2):c.18C>G (p.Ser6Arg)
|
rs1221290124
|
|
NM_000535.7(PMS2):c.1900C>A (p.His634Asn)
|
|
|
NM_000535.7(PMS2):c.1901A>T (p.His634Leu)
|
rs767904893
|
|
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys)
|
rs878854040
|
|
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr)
|
rs876658863
|
|
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
|
|
|
NM_000535.7(PMS2):c.1910A>C (p.Gln637Pro)
|
|
|
NM_000535.7(PMS2):c.1914A>C (p.Gln638His)
|
rs1583313823
|
|
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)
|
rs876659769
|
|
NM_000535.7(PMS2):c.1916G>C (p.Ser639Thr)
|
|
|
NM_000535.7(PMS2):c.1919A>G (p.Glu640Gly)
|
rs1782938849
|
|
NM_000535.7(PMS2):c.191A>G (p.Asp64Gly)
|
rs786203019
|
|
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val)
|
rs1554297114
|
|
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)
|
rs752772040
|
|
NM_000535.7(PMS2):c.1927C>G (p.Gln643Glu)
|
rs63751422
|
|
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)
|
rs786203075
|
|
NM_000535.7(PMS2):c.1936A>G (p.Arg646Gly)
|
rs369582237
|
|
NM_000535.7(PMS2):c.1936A>T (p.Arg646Trp)
|
rs369582237
|
|
NM_000535.7(PMS2):c.1937G>C (p.Arg646Thr)
|
rs372341850
|
|
NM_000535.7(PMS2):c.193C>A (p.Leu65Ile)
|
rs1562695468
|
|
NM_000535.7(PMS2):c.193C>G (p.Leu65Val)
|
rs1562695468
|
|
NM_000535.7(PMS2):c.1940A>G (p.Lys647Arg)
|
rs1554297100
|
|
NM_000535.7(PMS2):c.1941G>C (p.Lys647Asn)
|
rs2128720886
|
|
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val)
|
rs1782931972
|
|
NM_000535.7(PMS2):c.1944T>G (p.Phe648Leu)
|
rs144011908
|
|
NM_000535.7(PMS2):c.1948G>A (p.Ala650Thr)
|
rs1782930647
|
|
NM_000535.7(PMS2):c.1948G>C (p.Ala650Pro)
|
rs1782930647
|
|
NM_000535.7(PMS2):c.1948G>T (p.Ala650Ser)
|
|
|
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)
|
rs886062399
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
NM_000535.7(PMS2):c.1955T>A (p.Ile652Asn)
|
rs1554297091
|
|
NM_000535.7(PMS2):c.1957T>G (p.Cys653Gly)
|
rs267608162
|
|
NM_000535.7(PMS2):c.1958G>C (p.Cys653Ser)
|
rs1782927665
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
NM_000535.7(PMS2):c.1960C>A (p.Pro654Thr)
|
|
|
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
|
|
|
NM_000535.7(PMS2):c.1960C>T (p.Pro654Ser)
|
|
|
NM_000535.7(PMS2):c.1960_1961delinsTA (p.Pro654Tyr)
|
rs1782926608
|
|
NM_000535.7(PMS2):c.1961C>T (p.Pro654Leu)
|
rs779587825
|
|
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys)
|
rs876658931
|
|
NM_000535.7(PMS2):c.196A>T (p.Ile66Phe)
|
rs1785423536
|
|
NM_000535.7(PMS2):c.1972C>G (p.Gln658Glu)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr)
|
rs786203095
|
|
NM_000535.7(PMS2):c.1978G>A (p.Ala660Thr)
|
|
|
NM_000535.7(PMS2):c.1978G>C (p.Ala660Pro)
|
|
|
NM_000535.7(PMS2):c.1981G>C (p.Glu661Gln)
|
|
|
NM_000535.7(PMS2):c.1984G>A (p.Asp662Asn)
|
rs1562625087
|
|
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val)
|
rs1320079782
|
|
NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.1989A>C (p.Glu663Asp)
|
rs1562625015
|
|
NM_000535.7(PMS2):c.1990C>G (p.Leu664Val)
|
|
|
NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)
|
|
|
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
|
|
|
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln)
|
rs587780045
|
|
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro)
|
rs1064793232
|
|
NM_000535.7(PMS2):c.2001G>C (p.Glu667Asp)
|
rs1562624926
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
NM_000535.7(PMS2):c.2004A>G (p.Ile668Met)
|
rs1583312840
|
|
NM_000535.7(PMS2):c.2005A>C (p.Ser669Arg)
|
rs1554297049
|
|
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys)
|
rs1554297049
|
|
NM_000535.7(PMS2):c.2006+3A>G
|
rs1064793866
|
|
NM_000535.7(PMS2):c.2006+5del
|
rs1782913891
|
|
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_000535.7(PMS2):c.2006G>C (p.Ser669Thr)
|
rs1417552718
|
|
NM_000535.7(PMS2):c.2007-11_2007-7delinsCCTAT
|
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2007-7_2007-3delinsTCTGT
|
rs1782474044
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala)
|
rs876661087
|
|
NM_000535.7(PMS2):c.2012C>G (p.Thr671Arg)
|
rs587780046
|
|
NM_000535.7(PMS2):c.2015T>C (p.Met672Thr)
|
rs1554295972
|
|
NM_000535.7(PMS2):c.2016G>A (p.Met672Ile)
|
rs2128704802
|
|
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu)
|
rs1562616167
|
|
NM_000535.7(PMS2):c.2025A>C (p.Glu675Asp)
|
rs1057522947
|
|
NM_000535.7(PMS2):c.2025A>T (p.Glu675Asp)
|
rs1057522947
|
|
NM_000535.7(PMS2):c.2026A>G (p.Met676Val)
|
rs1554295955
|
|
NM_000535.7(PMS2):c.2028_2033del (p.Met676_Glu677del)
|
|
|
NM_000535.7(PMS2):c.2031A>C (p.Glu677Asp)
|
rs1782467652
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2037T>G (p.Ile679Met)
|
rs63751026
|
|
NM_000535.7(PMS2):c.203T>G (p.Val68Gly)
|
|
|
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del)
|
rs864622506
|
|
NM_000535.7(PMS2):c.2041C>A (p.Gln681Lys)
|
|
|
NM_000535.7(PMS2):c.2042A>G (p.Gln681Arg)
|
rs1782465326
|
|
NM_000535.7(PMS2):c.2042A>T (p.Gln681Leu)
|
rs1782465326
|
|
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
|
|
|
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2047A>T (p.Asn683Tyr)
|
rs786202668
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg)
|
rs1583299418
|
|
NM_000535.7(PMS2):c.2054G>A (p.Gly685Glu)
|
rs1554295923
|
|
NM_000535.7(PMS2):c.2057T>A (p.Phe686Tyr)
|
|
|
NM_000535.7(PMS2):c.2057T>C (p.Phe686Ser)
|
rs2128704084
|
|
NM_000535.7(PMS2):c.2061A>G (p.Ile687Met)
|
rs1782461393
|
|
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu)
|
rs1060503144
|
|
NM_000535.7(PMS2):c.2065A>T (p.Thr689Ser)
|
|
|
NM_000535.7(PMS2):c.2066C>T (p.Thr689Ile)
|
rs1254554953
|
|
NM_000535.7(PMS2):c.2069A>G (p.Lys690Arg)
|
rs876661164
|
|
NM_000535.7(PMS2):c.206C>T (p.Ser69Leu)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2072T>C (p.Leu691Pro)
|
rs1230422041
|
|
NM_000535.7(PMS2):c.2080G>C (p.Asp694His)
|
rs766478637
|
|
NM_000535.7(PMS2):c.2081A>G (p.Asp694Gly)
|
rs1554295876
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
NM_000535.7(PMS2):c.2083A>G (p.Ile695Val)
|
|
|
NM_000535.7(PMS2):c.2085C>G (p.Ile695Met)
|
rs757157176
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.208G>C (p.Asp70His)
|
|
|
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
|
rs1583299036
|
|
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met)
|
rs1554295855
|
|
NM_000535.7(PMS2):c.2095G>A (p.Asp699Asn)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2095G>T (p.Asp699Tyr)
|
|
|
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly)
|
rs878854043
|
|
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu)
|
rs1064793501
|
|
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly)
|
rs1554305000
|
|
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp)
|
rs587780048
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)
|
rs763866879
|
|
NM_000535.7(PMS2):c.2102A>C (p.His701Pro)
|
rs1583298873
|
|
NM_000535.7(PMS2):c.2102A>G (p.His701Arg)
|
rs1583298873
|
|
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr)
|
rs1554295821
|
|
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser)
|
rs1554295821
|
|
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu)
|
rs1554304997
|
|
NM_000535.7(PMS2):c.2110G>A (p.Asp704Asn)
|
|
|
NM_000535.7(PMS2):c.2110G>T (p.Asp704Tyr)
|
|
|
NM_000535.7(PMS2):c.2111A>G (p.Asp704Gly)
|
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
NM_000535.7(PMS2):c.2117_2131del (p.Lys706_Glu710del)
|
|
|
NM_000535.7(PMS2):c.2118G>C (p.Lys706Asn)
|
rs776238286
|
|
NM_000535.7(PMS2):c.2119T>C (p.Tyr707His)
|
rs1583298644
|
|
NM_000535.7(PMS2):c.211A>G (p.Asn71Asp)
|
|
|
NM_000535.7(PMS2):c.2120A>G (p.Tyr707Cys)
|
rs1554295795
|
|
NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)
|
|
|
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu)
|
rs199943748
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
NM_000535.7(PMS2):c.212A>T (p.Asn71Ile)
|
rs587780049
|
|
NM_000535.7(PMS2):c.2131A>G (p.Met711Val)
|
|
|
NM_000535.7(PMS2):c.2133G>A (p.Met711Ile)
|
rs2128702895
|
|
NM_000535.7(PMS2):c.2135T>C (p.Leu712Pro)
|
rs2128702863
|
|
NM_000535.7(PMS2):c.2137C>A (p.Gln713Lys)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2139G>C (p.Gln713His)
|
|
|
NM_000535.7(PMS2):c.2140C>G (p.Gln714Glu)
|
|
|
NM_000535.7(PMS2):c.2141A>T (p.Gln714Leu)
|
rs1160860634
|
|
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)
|
rs747494931
|
|
NM_000535.7(PMS2):c.2144A>C (p.His715Pro)
|
rs773913260
|
|
NM_000535.7(PMS2):c.2144A>G (p.His715Arg)
|
rs773913260
|
|
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala)
|
rs772637411
|
|
NM_000535.7(PMS2):c.2149G>C (p.Val717Leu)
|
|
|
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro)
|
rs755117943
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2159G>A (p.Gly720Glu)
|
rs2128702406
|
|
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
|
rs730881915
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro)
|
rs1246922900
|
|
NM_000535.7(PMS2):c.216A>G (p.Gly72=)
|
rs568370805
|
|
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr)
|
rs1060503123
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr)
|
rs1303835934
|
|
NM_000535.7(PMS2):c.2173G>C (p.Ala725Pro)
|
rs1303835934
|
|
NM_000535.7(PMS2):c.2174+10T>G
|
|
|
NM_000535.7(PMS2):c.2174+3G>C
|
rs1400193171
|
|
NM_000535.7(PMS2):c.2174+6T>A
|
rs587780050
|
|
NM_000535.7(PMS2):c.2174+9G>T
|
rs1782431297
|
|
NM_000535.7(PMS2):c.2174C>A (p.Ala725Glu)
|
rs150630090
|
|
NM_000535.7(PMS2):c.2175-1024A>G
|
|
|
NM_000535.7(PMS2):c.2175-3C>T
|
rs1326163718
|
|
NM_000535.7(PMS2):c.2175-8T>A
|
rs774550382
|
|
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser)
|
rs1407555810
|
|
NM_000535.7(PMS2):c.2181G>C (p.Gln727His)
|
|
|
NM_000535.7(PMS2):c.2183C>T (p.Thr728Ile)
|
rs1781992282
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)
|
rs1326865470
|
|
NM_000535.7(PMS2):c.2190C>G (p.Asn730Lys)
|
|
|
NM_000535.7(PMS2):c.2193_2217delinsT (p.Leu731_Leu739delinsPhe)
|
rs1583285870
|
|
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala)
|
rs587781958
|
|
NM_000535.7(PMS2):c.2198C>T (p.Ala733Val)
|
|
|
NM_000535.7(PMS2):c.2200G>A (p.Val734Ile)
|
rs1467072152
|
|
NM_000535.7(PMS2):c.2200G>C (p.Val734Leu)
|
|
|
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp)
|
rs1554294476
|
|
NM_000535.7(PMS2):c.2207A>T (p.Glu736Val)
|
rs1060503115
|
|
NM_000535.7(PMS2):c.2209G>A (p.Ala737Thr)
|
rs1583285937
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2210C>A (p.Ala737Asp)
|
rs2128683245
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala)
|
rs1583285889
|
|
NM_000535.7(PMS2):c.2219T>G (p.Ile740Arg)
|
|
|
NM_000535.7(PMS2):c.221G>T (p.Gly74Val)
|
|
|
NM_000535.7(PMS2):c.2226T>A (p.Asn742Lys)
|
|
|
NM_000535.7(PMS2):c.2228T>C (p.Leu743Pro)
|
rs1583285757
|
|
NM_000535.7(PMS2):c.2228T>G (p.Leu743Arg)
|
rs1583285757
|
|
NM_000535.7(PMS2):c.2233A>C (p.Ile745Leu)
|
rs1562605133
|
|
NM_000535.7(PMS2):c.2233A>G (p.Ile745Val)
|
rs1562605133
|
|
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met)
|
rs1554294453
|
|
NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)
|
|
|
NM_000535.7(PMS2):c.2237T>A (p.Phe746Tyr)
|
|
|
NM_000535.7(PMS2):c.223G>A (p.Val75Ile)
|
rs1554304971
|
|
NM_000535.7(PMS2):c.223G>T (p.Val75Leu)
|
|
|
NM_000535.7(PMS2):c.2240G>T (p.Arg747Ile)
|
rs587782671
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2244G>C (p.Lys748Asn)
|
rs1443656360
|
|
NM_000535.7(PMS2):c.2244G>T (p.Lys748Asn)
|
rs1443656360
|
|
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp)
|
rs878854045
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
NM_000535.7(PMS2):c.2248G>A (p.Gly750Ser)
|
rs1781977133
|
|
NM_000535.7(PMS2):c.2249G>T (p.Gly750Val)
|
|
|
NM_000535.7(PMS2):c.224_232del (p.Val75_Glu77del)
|
rs1785415079
|
|
NM_000535.7(PMS2):c.2253_2255delinsCGC (p.Asp752Ala)
|
rs2128682292
|
|
NM_000535.7(PMS2):c.2253_2256delinsCGAA (p.Asp752Glu)
|
rs2128682246
|
|
NM_000535.7(PMS2):c.2256T>G (p.Asp752Glu)
|
|
|
NM_000535.7(PMS2):c.2258T>C (p.Phe753Ser)
|
|
|
NM_000535.7(PMS2):c.2259_2264del (p.Val754_Ile755del)
|
rs2128682119
|
|
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile)
|
rs876658822
|
|
NM_000535.7(PMS2):c.2260G>C (p.Val754Leu)
|
rs876658822
|
|
NM_000535.7(PMS2):c.2264T>A (p.Ile755Asn)
|
rs386833410
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
NM_000535.7(PMS2):c.2267A>G (p.Asp756Gly)
|
rs1554294409
|
|
NM_000535.7(PMS2):c.2267A>T (p.Asp756Val)
|
rs1554294409
|
|
NM_000535.7(PMS2):c.2268T>A (p.Asp756Glu)
|
rs1060503119
|
|
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del)
|
rs386833411
|
|
NM_000535.7(PMS2):c.2270A>C (p.Glu757Ala)
|
rs1554294402
|
|
NM_000535.7(PMS2):c.2275+11A>T
|
rs983422739
|
|
NM_000535.7(PMS2):c.2275+5G>C
|
rs1583285249
|
|
NM_000535.7(PMS2):c.2275G>C (p.Ala759Pro)
|
rs1554294396
|
|
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser)
|
rs1554294396
|
|
NM_000535.7(PMS2):c.2276-16A>G
|
|
|
NM_000535.7(PMS2):c.2276-17A>G
|
rs1057523755
|
|
NM_000535.7(PMS2):c.2276-3T>C
|
rs1583281760
|
|
NM_000535.7(PMS2):c.2276C>A (p.Ala759Asp)
|
rs1219434769
|
|
NM_000535.7(PMS2):c.2276C>T (p.Ala759Val)
|
rs1219434769
|
|
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser)
|
rs763468927
|
|
NM_000535.7(PMS2):c.2279C>A (p.Pro760Gln)
|
|
|
NM_000535.7(PMS2):c.2279C>T (p.Pro760Leu)
|
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
NM_000535.7(PMS2):c.2291G>A (p.Arg764Lys)
|
rs1583281502
|
|
NM_000535.7(PMS2):c.2293G>C (p.Ala765Pro)
|
rs2128675666
|
|
NM_000535.7(PMS2):c.2294C>G (p.Ala765Gly)
|
rs1295232723
|
|
NM_000535.7(PMS2):c.22A>G (p.Ser8Gly)
|
|
|
NM_000535.7(PMS2):c.23+3G>T
|
rs1408475000
|
|
NM_000535.7(PMS2):c.23+4A>C
|
rs1583435174
|
|
NM_000535.7(PMS2):c.2300T>A (p.Leu767Gln)
|
|
|
NM_000535.7(PMS2):c.2300T>C (p.Leu767Pro)
|
rs1781853056
|
|
NM_000535.7(PMS2):c.2300T>G (p.Leu767Arg)
|
rs1781853056
|
|
NM_000535.7(PMS2):c.2302A>T (p.Ile768Phe)
|
rs2128675445
|
|
NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)
|
|
|
NM_000535.7(PMS2):c.2305T>C (p.Ser769Pro)
|
|
|
NM_000535.7(PMS2):c.2306C>G (p.Ser769Cys)
|
|
|
NM_000535.7(PMS2):c.230A>G (p.Glu77Gly)
|
|
|
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
|
rs1583281360
|
|
NM_000535.7(PMS2):c.2311C>T (p.Pro771Ser)
|
rs2128675272
|
|
NM_000535.7(PMS2):c.2312C>A (p.Pro771Gln)
|
|
|
NM_000535.7(PMS2):c.2312C>T (p.Pro771Leu)
|
rs759653526
|
|
NM_000535.7(PMS2):c.2314A>C (p.Thr772Pro)
|
|
|
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
|
|
|
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile)
|
rs1781849852
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
NM_000535.7(PMS2):c.2318G>C (p.Ser773Thr)
|
|
|
NM_000535.7(PMS2):c.2319T>G (p.Ser773Arg)
|
|
|
NM_000535.7(PMS2):c.2324A>T (p.Asn775Ile)
|
rs17420802
|
|
NM_000535.7(PMS2):c.2324_2328delinsGCTGT (p.Asn775_Trp776delinsSerCys)
|
|
|
NM_000535.7(PMS2):c.2328G>C (p.Trp776Cys)
|
|
|
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln)
|
rs1785414812
|
|
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser)
|
rs777728316
|
|
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile)
|
rs777728316
|
|
NM_000535.7(PMS2):c.2334C>A (p.Phe778Leu)
|
|
|
NM_000535.7(PMS2):c.2335G>C (p.Gly779Arg)
|
|
|
NM_000535.7(PMS2):c.2336G>C (p.Gly779Ala)
|
rs1562601675
|
|
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser)
|
rs1064796041
|
|
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly)
|
rs2128829529
|
|
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2345A>T (p.Asp782Val)
|
rs745500014
|
|
NM_000535.7(PMS2):c.2345_2347del (p.Asp782del)
|
rs1554293941
|
|
NM_000535.7(PMS2):c.2347G>T (p.Val783Phe)
|
rs553286217
|
|
NM_000535.7(PMS2):c.2350G>C (p.Asp784His)
|
|
|
NM_000535.7(PMS2):c.2357T>C (p.Leu786Pro)
|
|
|
NM_000535.7(PMS2):c.2360T>A (p.Ile787Asn)
|
rs1781837155
|
|
NM_000535.7(PMS2):c.2360T>C (p.Ile787Thr)
|
|
|
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met)
|
rs1064794923
|
|
NM_000535.7(PMS2):c.2365A>G (p.Met789Val)
|
rs377259633
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
NM_000535.7(PMS2):c.2367G>C (p.Met789Ile)
|
|
|
NM_000535.7(PMS2):c.2369T>A (p.Leu790Gln)
|
|
|
NM_000535.7(PMS2):c.2372G>A (p.Ser791Asn)
|
rs2128673461
|
|
NM_000535.7(PMS2):c.2372G>C (p.Ser791Thr)
|
rs2128673461
|
|
NM_000535.7(PMS2):c.2373C>G (p.Ser791Arg)
|
rs864622765
|
|
NM_000535.7(PMS2):c.2377A>G (p.Ser793Gly)
|
rs1781833468
|
|
NM_000535.7(PMS2):c.2378G>A (p.Ser793Asn)
|
rs1583280432
|
|
NM_000535.7(PMS2):c.2379C>A (p.Ser793Arg)
|
rs1554293887
|
|
NM_000535.7(PMS2):c.237C>G (p.Asn79Lys)
|
|
|
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg)
|
rs876659030
|
|
NM_000535.7(PMS2):c.2383G>A (p.Gly795Arg)
|
rs1423733655
|
|
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu)
|
rs786203838
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
NM_000535.7(PMS2):c.2390T>A (p.Met797Lys)
|
rs267608152
|
|
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr)
|
rs267608152
|
|
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile)
|
rs1554293841
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
NM_000535.7(PMS2):c.2393G>A (p.Cys798Tyr)
|
rs2128672830
|
|
NM_000535.7(PMS2):c.2394C>G (p.Cys798Trp)
|
|
|
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu)
|
rs200629542
|
|
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys)
|
rs1064795697
|
|
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn)
|
rs1352544158
|
|
NM_000535.7(PMS2):c.24-14A>G
|
rs2128847501
|
|
NM_000535.7(PMS2):c.2404C>G (p.Arg802Gly)
|
|
|
NM_000535.7(PMS2):c.2405G>C (p.Arg802Pro)
|
|
|
NM_000535.7(PMS2):c.2407G>A (p.Val803Ile)
|
rs745614929
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.2416A>G (p.Met806Val)
|
rs1554293792
|
|
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu)
|
rs1554293792
|
|
NM_000535.7(PMS2):c.2417T>C (p.Met806Thr)
|
rs1781820682
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
NM_000535.7(PMS2):c.241G>C (p.Glu81Gln)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2422G>C (p.Ala808Pro)
|
rs1306035279
|
|
NM_000535.7(PMS2):c.2426C>G (p.Ser809Cys)
|
|
|
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe)
|
rs1583279643
|
|
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly)
|
rs1781818536
|
|
NM_000535.7(PMS2):c.2429G>A (p.Arg810Lys)
|
rs535705597
|
|
NM_000535.7(PMS2):c.2429G>C (p.Arg810Thr)
|
rs535705597
|
|
NM_000535.7(PMS2):c.2429G>T (p.Arg810Ile)
|
|
|
NM_000535.7(PMS2):c.2430A>T (p.Arg810Ser)
|
rs1583279606
|
|
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val)
|
rs1387206284
|
|
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr)
|
rs876661116
|
|
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe)
|
rs876661116
|
|
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)
|
rs375968016
|
|
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)
|
rs587782665
|
|
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
|
|
|
NM_000535.7(PMS2):c.2445+3A>G
|
|
|
NM_000535.7(PMS2):c.2445+5G>C
|
rs1583279335
|
|
NM_000535.7(PMS2):c.2445+6T>C
|
rs1170182390
|
|
NM_000535.7(PMS2):c.2445G>C (p.Ser815=)
|
|
|
NM_000535.7(PMS2):c.2446-10T>G
|
|
|
NM_000535.7(PMS2):c.2446-16T>C
|
|
|
NM_000535.7(PMS2):c.2446-2A>C
|
rs886039709
|
|
NM_000535.7(PMS2):c.2446-3C>T
|
rs1781512229
|
|
NM_000535.7(PMS2):c.2446-5C>G
|
rs864622279
|
|
NM_000535.7(PMS2):c.2446G>A (p.Val816Met)
|
|
|
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
|
|
|
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu)
|
rs876659479
|
|
NM_000535.7(PMS2):c.2447T>G (p.Val816Gly)
|
rs1060503140
|
|
NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del)
|
rs1781510137
|
|
NM_000535.7(PMS2):c.2449A>G (p.Met817Val)
|
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
NM_000535.7(PMS2):c.2452A>T (p.Ile818Phe)
|
rs2128659230
|
|
NM_000535.7(PMS2):c.2455G>A (p.Gly819Arg)
|
|
|
NM_000535.7(PMS2):c.2456G>T (p.Gly819Val)
|
|
|
NM_000535.7(PMS2):c.2459C>A (p.Thr820Asn)
|
rs1583270329
|
|
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)
|
rs2128658992
|
|
NM_000535.7(PMS2):c.2462_2466delinsGTCTC (p.Ala821Gly)
|
|
|
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val)
|
rs1554292873
|
|
NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)
|
|
|
NM_000535.7(PMS2):c.2470A>G (p.Thr824Ala)
|
rs1583270215
|
|
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys)
|
rs1354323014
|
|
NM_000535.7(PMS2):c.2471C>G (p.Thr824Arg)
|
rs1354323014
|
|
NM_000535.7(PMS2):c.2474G>A (p.Ser825Asn)
|
rs1562594318
|
|
NM_000535.7(PMS2):c.2475C>G (p.Ser825Arg)
|
|
|
NM_000535.7(PMS2):c.2475C>T (p.Ser825=)
|
rs776460258
|
|
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp)
|
rs1562594255
|
|
NM_000535.7(PMS2):c.2479A>G (p.Met827Val)
|
rs876659537
|
|
NM_000535.7(PMS2):c.2483A>C (p.Lys828Thr)
|
|
|
NM_000535.7(PMS2):c.2483A>G (p.Lys828Arg)
|
rs1583270024
|
|
NM_000535.7(PMS2):c.2484G>T (p.Lys828Asn)
|
rs1583269995
|
|
NM_000535.7(PMS2):c.2485A>C (p.Lys829Gln)
|
|
|
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)
|
rs1781502574
|
|
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val)
|
rs876661221
|
|
NM_000535.7(PMS2):c.2491A>T (p.Ile831Phe)
|
|
|
NM_000535.7(PMS2):c.2495C>G (p.Thr832Ser)
|
|
|
NM_000535.7(PMS2):c.2497C>G (p.His833Asp)
|
rs777470381
|
|
NM_000535.7(PMS2):c.2499C>G (p.His833Gln)
|
rs876659564
|
|
NM_000535.7(PMS2):c.24T>C (p.Ser8=)
|
rs1554306620
|
|
NM_000535.7(PMS2):c.24T>G (p.Ser8Arg)
|
|
|
NM_000535.7(PMS2):c.250+3A>C
|
|
|
NM_000535.7(PMS2):c.250+4A>C
|
|
|
NM_000535.7(PMS2):c.250+4A>G
|
rs1554304934
|
|
NM_000535.7(PMS2):c.250+5G>A
|
rs1458809226
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
NM_000535.7(PMS2):c.250+6T>G
|
rs1583410029
|
|
NM_000535.7(PMS2):c.2500A>C (p.Met834Leu)
|
rs1554292828
|
|
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
|
|
|
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu)
|
rs1554292828
|
|
NM_000535.7(PMS2):c.2501T>A (p.Met834Lys)
|
|
|
NM_000535.7(PMS2):c.2502G>C (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu)
|
rs1454373685
|
|
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
|
|
|
NM_000535.7(PMS2):c.2509A>T (p.Met837Leu)
|
rs1583269633
|
|
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro)
|
rs1554304938
|
|
NM_000535.7(PMS2):c.251-10T>A
|
rs1554304817
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
NM_000535.7(PMS2):c.251-5T>C
|
|
|
NM_000535.7(PMS2):c.251-5T>G
|
rs2128827794
|
|
NM_000535.7(PMS2):c.251-6_251-3del
|
rs2128827769
|
|
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile)
|
rs1554292802
|
|
NM_000535.7(PMS2):c.2513A>G (p.Asp838Gly)
|
rs1029895711
|
|
NM_000535.7(PMS2):c.2516A>G (p.His839Arg)
|
rs1562593924
|
|
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser)
|
rs1562593877
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
NM_000535.7(PMS2):c.2521T>C (p.Trp841Arg)
|
rs1781493914
|
|
NM_000535.7(PMS2):c.2526C>A (p.Asn842Lys)
|
rs755478893
|
|
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg)
|
rs1554292753
|
|
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr)
|
rs267608174
|
|
NM_000535.7(PMS2):c.2528G>T (p.Cys843Phe)
|
|
|
NM_000535.7(PMS2):c.2530C>A (p.Pro844Thr)
|
rs1781490910
|
|
NM_000535.7(PMS2):c.2530C>G (p.Pro844Ala)
|
rs1781490910
|
|
NM_000535.7(PMS2):c.2530C>T (p.Pro844Ser)
|
rs1781490910
|
|
NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2533C>G (p.His845Asp)
|
rs1781489538
|
|
NM_000535.7(PMS2):c.2534A>C (p.His845Pro)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.253C>G (p.Leu85Val)
|
rs1554304801
|
|
NM_000535.7(PMS2):c.2540G>C (p.Arg847Thr)
|
rs1583269177
|
|
NM_000535.7(PMS2):c.2541del (p.Arg847fs)
|
|
|
NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)
|
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
NM_000535.7(PMS2):c.2545A>T (p.Thr849Ser)
|
|
|
NM_000535.7(PMS2):c.2546C>G (p.Thr849Ser)
|
rs876660627
|
|
NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile)
|
rs876660627
|
|
NM_000535.7(PMS2):c.2548A>G (p.Met850Val)
|
|
|
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs)
|
rs1064792975
|
|
NM_000535.7(PMS2):c.2551A>G (p.Arg851Gly)
|
rs1781485917
|
|
NM_000535.7(PMS2):c.2552G>A (p.Arg851Lys)
|
|
|
NM_000535.7(PMS2):c.2552G>C (p.Arg851Thr)
|
rs2128657167
|
|
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr)
|
rs754350493
|
|
NM_000535.7(PMS2):c.2555dup (p.His852fs)
|
rs2128657099
|
|
NM_000535.7(PMS2):c.2556C>A (p.His852Gln)
|
rs1583269042
|
|
NM_000535.7(PMS2):c.2556C>G (p.His852Gln)
|
rs1583269042
|
|
NM_000535.7(PMS2):c.2557A>G (p.Ile853Val)
|
rs1188808116
|
|
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro)
|
rs574371474
|
|
NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser)
|
rs574371474
|
|
NM_000535.7(PMS2):c.2569G>A (p.Gly857Ser)
|
rs750820328
|
|
NM_000535.7(PMS2):c.2569_2570inv (p.Gly857Pro)
|
|
|
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln)
|
rs544441867
|
|
NM_000535.7(PMS2):c.256A>G (p.Lys86Glu)
|
|
|
NM_000535.7(PMS2):c.2570G>T (p.Gly857Val)
|
rs1802683
|
|
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile)
|
rs368036201
|
|
NM_000535.7(PMS2):c.2575A>C (p.Ile859Leu)
|
|
|
NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys)
|
rs1583268744
|
|
NM_000535.7(PMS2):c.2582A>G (p.Gln861Arg)
|
|
|
NM_000535.7(PMS2):c.2585A>G (p.Asn862Ser)
|
rs2128656594
|
|
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)
|
rs1060503124
|
|
NM_000535.7(PMS2):c.2588G>T (p.Ter863Leu)
|
rs1554292688
|
|
NM_000535.7(PMS2):c.2589A>G (p.Ter863Trp)
|
rs1781477892
|
|
NM_000535.7(PMS2):c.2589_*12del (p.Ter863CysextTer?)
|
rs1781476068
|
|
NM_000535.7(PMS2):c.259C>T (p.His87Tyr)
|
|
|
NM_000535.7(PMS2):c.260A>G (p.His87Arg)
|
rs1340959686
|
|
NM_000535.7(PMS2):c.262C>T (p.His88Tyr)
|
|
|
NM_000535.7(PMS2):c.263A>G (p.His88Arg)
|
rs1554304774
|
|
NM_000535.7(PMS2):c.266C>T (p.Thr89Ile)
|
rs1275124814
|
|
NM_000535.7(PMS2):c.269C>A (p.Ser90Tyr)
|
rs770678468
|
|
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys)
|
rs770678468
|
|
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile)
|
rs1210073386
|
|
NM_000535.7(PMS2):c.271A>G (p.Lys91Glu)
|
rs1785382109
|
|
NM_000535.7(PMS2):c.272A>G (p.Lys91Arg)
|
rs1583408934
|
|
NM_000535.7(PMS2):c.274A>G (p.Ile92Val)
|
rs1333262869
|
|
NM_000535.7(PMS2):c.274A>T (p.Ile92Phe)
|
rs1333262869
|
|
NM_000535.7(PMS2):c.275T>G (p.Ile92Ser)
|
rs1554304738
|
|
NM_000535.7(PMS2):c.276T>G (p.Ile92Met)
|
|
|
NM_000535.7(PMS2):c.278A>G (p.Gln93Arg)
|
rs1785380060
|
|
NM_000535.7(PMS2):c.27A>G (p.Thr9=)
|
|
|
NM_000535.7(PMS2):c.280G>A (p.Glu94Lys)
|
rs1583408872
|
|
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu)
|
rs1554304717
|
|
NM_000535.7(PMS2):c.284T>A (p.Phe95Tyr)
|
|
|
NM_000535.7(PMS2):c.285T>G (p.Phe95Leu)
|
rs1583408820
|
|
NM_000535.7(PMS2):c.286G>A (p.Ala96Thr)
|
rs772740220
|
|
NM_000535.7(PMS2):c.289G>C (p.Asp97His)
|
rs1395998044
|
|
NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr)
|
rs1395998044
|
|
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu)
|
rs878854049
|
|
NM_000535.7(PMS2):c.291C>G (p.Asp97Glu)
|
|
|
NM_000535.7(PMS2):c.296C>G (p.Thr99Ser)
|
rs786202835
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
NM_000535.7(PMS2):c.298C>G (p.Gln100Glu)
|
rs1554304696
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.299A>T (p.Gln100Leu)
|
rs747771951
|
|
NM_000535.7(PMS2):c.299_301del (p.Gln100_Val101delinsLeu)
|
|
|
NM_000535.7(PMS2):c.29A>T (p.Glu10Val)
|
rs878854050
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.300G>C (p.Gln100His)
|
rs1064794102
|
|
NM_000535.7(PMS2):c.301G>C (p.Val101Leu)
|
|
|
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
|
|
|
NM_000535.7(PMS2):c.308C>G (p.Thr103Ser)
|
|
|
NM_000535.7(PMS2):c.308C>T (p.Thr103Ile)
|
rs1562693788
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu)
|
rs1554304677
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
NM_000535.7(PMS2):c.311T>G (p.Phe104Cys)
|
rs876660295
|
|
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg)
|
rs1554304666
|
|
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp)
|
rs876659413
|
|
NM_000535.7(PMS2):c.314G>C (p.Gly105Ala)
|
rs876659413
|
|
NM_000535.7(PMS2):c.314G>T (p.Gly105Val)
|
|
|
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala)
|
rs1554306608
|
|
NM_000535.7(PMS2):c.31C>T (p.Pro11Ser)
|
rs1554306608
|
|
NM_000535.7(PMS2):c.322G>A (p.Gly108Arg)
|
|
|
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp)
|
rs750866397
|
|
NM_000535.7(PMS2):c.323G>T (p.Gly108Val)
|
rs1785369293
|
|
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys)
|
rs63749862
|
|
NM_000535.7(PMS2):c.326A>G (p.Glu109Gly)
|
rs1785367984
|
|
NM_000535.7(PMS2):c.329C>T (p.Ala110Val)
|
|
|
NM_000535.7(PMS2):c.331C>G (p.Leu111Val)
|
rs864622232
|
|
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro)
|
rs1554304623
|
|
NM_000535.7(PMS2):c.334A>G (p.Ser112Gly)
|
rs1254565992
|
|
NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)
|
|
|
NM_000535.7(PMS2):c.335G>C (p.Ser112Thr)
|
rs1219157493
|
|
NM_000535.7(PMS2):c.343T>A (p.Cys115Ser)
|
rs1290792398
|
|
NM_000535.7(PMS2):c.343T>C (p.Cys115Arg)
|
rs1290792398
|
|
NM_000535.7(PMS2):c.343T>G (p.Cys115Gly)
|
|
|
NM_000535.7(PMS2):c.346G>C (p.Ala116Pro)
|
|
|
NM_000535.7(PMS2):c.346G>T (p.Ala116Ser)
|
rs751799116
|
|
NM_000535.7(PMS2):c.347C>T (p.Ala116Val)
|
rs1554304601
|
|
NM_000535.7(PMS2):c.349C>A (p.Leu117Met)
|
rs1554304592
|
|
NM_000535.7(PMS2):c.349C>G (p.Leu117Val)
|
rs1554304592
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.353+4del
|
rs1785360310
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-14G>T
|
rs1785236527
|
|
NM_000535.7(PMS2):c.354-15G>T
|
rs1250216615
|
|
NM_000535.7(PMS2):c.354-3C>G
|
rs587782632
|
|
NM_000535.7(PMS2):c.354-7C>A
|
rs758471869
|
|
NM_000535.7(PMS2):c.354-7C>G
|
rs758471869
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly)
|
rs2128819431
|
|
NM_000535.7(PMS2):c.359T>C (p.Val120Ala)
|
rs1060503139
|
|
NM_000535.7(PMS2):c.35C>A (p.Ala12Asp)
|
|
|
NM_000535.7(PMS2):c.35C>T (p.Ala12Val)
|
rs1562702377
|
|
NM_000535.7(PMS2):c.364A>G (p.Ile122Val)
|
rs761748894
|
|
NM_000535.7(PMS2):c.364A>T (p.Ile122Phe)
|
rs761748894
|
|
NM_000535.7(PMS2):c.368C>G (p.Ser123Cys)
|
rs1562690595
|
|
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala)
|
rs1554304105
|
|
NM_000535.7(PMS2):c.371C>A (p.Thr124Asn)
|
rs1034709810
|
|
NM_000535.7(PMS2):c.371C>T (p.Thr124Ile)
|
rs1034709810
|
|
NM_000535.7(PMS2):c.376C>G (p.His126Asp)
|
rs774135207
|
|
NM_000535.7(PMS2):c.376C>T (p.His126Tyr)
|
rs774135207
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.379G>C (p.Ala127Pro)
|
|
|
NM_000535.7(PMS2):c.379G>T (p.Ala127Ser)
|
|
|
NM_000535.7(PMS2):c.37A>G (p.Lys13Glu)
|
|
|
NM_000535.7(PMS2):c.380C>G (p.Ala127Gly)
|
|
|
NM_000535.7(PMS2):c.380C>T (p.Ala127Val)
|
|
|
NM_000535.7(PMS2):c.382T>C (p.Ser128Pro)
|
rs1562690462
|
|
NM_000535.7(PMS2):c.385G>A (p.Ala129Thr)
|
rs1785227712
|
|
NM_000535.7(PMS2):c.391G>T (p.Val131Phe)
|
rs1583403963
|
|
NM_000535.7(PMS2):c.394G>A (p.Gly132Arg)
|
|
|
NM_000535.7(PMS2):c.398C>A (p.Thr133Asn)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln)
|
rs771300829
|
|
NM_000535.7(PMS2):c.403C>A (p.Leu135Met)
|
|
|
NM_000535.7(PMS2):c.404T>C (p.Leu135Pro)
|
rs2128818545
|
|
NM_000535.7(PMS2):c.406A>C (p.Met136Leu)
|
rs35690297
|
|
NM_000535.7(PMS2):c.406A>T (p.Met136Leu)
|
rs35690297
|
|
NM_000535.7(PMS2):c.407T>A (p.Met136Lys)
|
|
|
NM_000535.7(PMS2):c.407T>C (p.Met136Thr)
|
rs1554304050
|
|
NM_000535.7(PMS2):c.409T>G (p.Phe137Val)
|
rs1060503141
|
|
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser)
|
rs876661039
|
|
NM_000535.7(PMS2):c.415C>G (p.His139Asp)
|
|
|
NM_000535.7(PMS2):c.415C>T (p.His139Tyr)
|
rs1554304032
|
|
NM_000535.7(PMS2):c.416A>G (p.His139Arg)
|
rs876658142
|
|
NM_000535.7(PMS2):c.417C>A (p.His139Gln)
|
rs876659919
|
|
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser)
|
rs876661103
|
|
NM_000535.7(PMS2):c.41C>G (p.Ala14Gly)
|
rs750524554
|
|
NM_000535.7(PMS2):c.41C>T (p.Ala14Val)
|
rs750524554
|
|
NM_000535.7(PMS2):c.420T>A (p.Asn140Lys)
|
|
|
NM_000535.7(PMS2):c.422G>A (p.Gly141Glu)
|
rs376931673
|
|
NM_000535.7(PMS2):c.425A>T (p.Lys142Ile)
|
rs2128818151
|
|
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn)
|
rs1785218841
|
|
NM_000535.7(PMS2):c.427A>G (p.Ile143Val)
|
rs1785218471
|
|
NM_000535.7(PMS2):c.429T>G (p.Ile143Met)
|
|
|
NM_000535.7(PMS2):c.430A>G (p.Ile144Val)
|
rs876659055
|
|
NM_000535.7(PMS2):c.431T>C (p.Ile144Thr)
|
rs2128818030
|
|
NM_000535.7(PMS2):c.436A>G (p.Lys146Glu)
|
rs1785215412
|
|
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
|
rs1583403496
|
|
NM_000535.7(PMS2):c.439A>G (p.Thr147Ala)
|
rs1583403496
|
|
NM_000535.7(PMS2):c.43A>G (p.Ile15Val)
|
rs878854051
|
|
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn)
|
rs1554304012
|
|
NM_000535.7(PMS2):c.440C>T (p.Thr147Ile)
|
|
|
NM_000535.7(PMS2):c.442C>T (p.Pro148Ser)
|
rs1554304009
|
|
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn)
|
rs890029950
|
|
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)
|
rs1554304003
|
|
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser)
|
rs1060503120
|
|
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg)
|
rs778119115
|
|
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)
|
rs758561884
|
|
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro)
|
rs35629870
|
|
NM_000535.7(PMS2):c.454C>A (p.Pro152Thr)
|
rs2128817422
|
|
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly)
|
rs779013546
|
|
NM_000535.7(PMS2):c.464C>T (p.Thr155Ile)
|
rs2128817131
|
|
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro)
|
rs786204206
|
|
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile)
|
rs1554303953
|
|
NM_000535.7(PMS2):c.469G>A (p.Val157Ile)
|
rs1554303946
|
|
NM_000535.7(PMS2):c.471C>A (p.Val157=)
|
rs878854052
|
|
NM_000535.7(PMS2):c.472A>G (p.Ser158Gly)
|
rs1554303942
|
|
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys)
|
rs1554303942
|
|
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn)
|
rs750354871
|
|
NM_000535.7(PMS2):c.474C>G (p.Ser158Arg)
|
rs767414243
|
|
NM_000535.7(PMS2):c.475G>C (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.478C>A (p.Gln160Lys)
|
rs36038802
|
|
NM_000535.7(PMS2):c.47A>C (p.Lys16Thr)
|
|
|
NM_000535.7(PMS2):c.47A>T (p.Lys16Ile)
|
|
|
NM_000535.7(PMS2):c.480G>C (p.Gln160His)
|
|
|
NM_000535.7(PMS2):c.480G>T (p.Gln160His)
|
rs1426242773
|
|
NM_000535.7(PMS2):c.482A>C (p.Gln161Pro)
|
rs1554303917
|
|
NM_000535.7(PMS2):c.484T>A (p.Leu162Ile)
|
rs1554303909
|
|
NM_000535.7(PMS2):c.486A>C (p.Leu162Phe)
|
rs1479722146
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.493A>G (p.Thr165Ala)
|
rs1554303902
|
|
NM_000535.7(PMS2):c.499C>G (p.Pro167Ala)
|
rs2128816325
|
|
NM_000535.7(PMS2):c.499C>T (p.Pro167Ser)
|
|
|
NM_000535.7(PMS2):c.49C>G (p.Pro17Ala)
|
rs552819358
|
|
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg)
|
rs1554303894
|
|
NM_000535.7(PMS2):c.500C>T (p.Pro167Leu)
|
rs1554303894
|
|
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys)
|
rs730881916
|
|
NM_000535.7(PMS2):c.506G>T (p.Arg169Leu)
|
rs730881917
|
|
NM_000535.7(PMS2):c.508C>A (p.His170Asn)
|
rs876661152
|
|
NM_000535.7(PMS2):c.509A>G (p.His170Arg)
|
rs1583402418
|
|
NM_000535.7(PMS2):c.50C>G (p.Pro17Arg)
|
|
|
NM_000535.7(PMS2):c.515A>T (p.Glu172Val)
|
|
|
NM_000535.7(PMS2):c.516A>T (p.Glu172Asp)
|
rs1785191843
|
|
NM_000535.7(PMS2):c.520C>G (p.Gln174Glu)
|
|
|
NM_000535.7(PMS2):c.521A>C (p.Gln174Pro)
|
|
|
NM_000535.7(PMS2):c.524G>A (p.Arg175Lys)
|
rs1562688735
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
NM_000535.7(PMS2):c.525G>T (p.Arg175Ser)
|
rs1554303870
|
|
NM_000535.7(PMS2):c.526A>G (p.Asn176Asp)
|
rs1583402212
|
|
NM_000535.7(PMS2):c.527A>T (p.Asn176Ile)
|
rs1785189018
|
|
NM_000535.7(PMS2):c.52A>T (p.Ile18Phe)
|
rs63750123
|
|
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr)
|
rs769312937
|
|
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)
|
rs863224679
|
|
NM_000535.7(PMS2):c.532AAG[1] (p.Lys179del)
|
rs876661092
|
|
NM_000535.7(PMS2):c.534G>C (p.Lys178Asn)
|
|
|
NM_000535.7(PMS2):c.534G>T (p.Lys178Asn)
|
rs1288953417
|
|
NM_000535.7(PMS2):c.536A>T (p.Lys179Met)
|
|
|
NM_000535.7(PMS2):c.537+3A>G
|
rs876659939
|
|
NM_000535.7(PMS2):c.537+4C>G
|
rs864622272
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
NM_000535.7(PMS2):c.538-14T>C
|
|
|
NM_000535.7(PMS2):c.538-3C>G
|
rs1554302546
|
|
NM_000535.7(PMS2):c.538-4A>G
|
|
|
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln)
|
rs876660198
|
|
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala)
|
rs1064793401
|
|
NM_000535.7(PMS2):c.541T>C (p.Tyr181His)
|
rs863224680
|
|
NM_000535.7(PMS2):c.542A>G (p.Tyr181Cys)
|
rs863224681
|
|
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe)
|
rs863224681
|
|
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr)
|
rs587779341
|
|
NM_000535.7(PMS2):c.545C>G (p.Ala182Gly)
|
rs1562679272
|
|
NM_000535.7(PMS2):c.545C>T (p.Ala182Val)
|
rs1562679272
|
|
NM_000535.7(PMS2):c.546C>T (p.Ala182=)
|
rs1554302537
|
|
NM_000535.7(PMS2):c.549A>C (p.Lys183Asn)
|
rs1784828441
|
|
NM_000535.7(PMS2):c.550A>G (p.Met184Val)
|
rs1583387809
|
|
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
|
rs1583387794
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.553G>A (p.Val185Ile)
|
rs1583387731
|
|
NM_000535.7(PMS2):c.553G>T (p.Val185Phe)
|
rs1583387731
|
|
NM_000535.7(PMS2):c.554T>A (p.Val185Asp)
|
|
|
NM_000535.7(PMS2):c.554T>C (p.Val185Ala)
|
rs2128802017
|
|
NM_000535.7(PMS2):c.558G>C (p.Gln186His)
|
rs769411134
|
|
NM_000535.7(PMS2):c.559G>T (p.Val187Phe)
|
|
|
NM_000535.7(PMS2):c.55G>C (p.Asp19His)
|
rs1554306568
|
|
NM_000535.7(PMS2):c.55G>T (p.Asp19Tyr)
|
rs1554306568
|
|
NM_000535.7(PMS2):c.563T>C (p.Leu188Ser)
|
|
|
NM_000535.7(PMS2):c.565C>A (p.His189Asn)
|
rs1583387579
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
NM_000535.7(PMS2):c.566A>G (p.His189Arg)
|
rs876660330
|
|
NM_000535.7(PMS2):c.568G>A (p.Ala190Thr)
|
rs1784822104
|
|
NM_000535.7(PMS2):c.569C>T (p.Ala190Val)
|
|
|
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly)
|
rs1554306564
|
|
NM_000535.7(PMS2):c.571T>C (p.Tyr191His)
|
rs1784821488
|
|
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser)
|
rs375289386
|
|
NM_000535.7(PMS2):c.574T>C (p.Cys192Arg)
|
rs773752935
|
|
NM_000535.7(PMS2):c.575G>C (p.Cys192Ser)
|
rs772404945
|
|
NM_000535.7(PMS2):c.577A>T (p.Ile193Phe)
|
rs1784819145
|
|
NM_000535.7(PMS2):c.580A>G (p.Ile194Val)
|
rs1554302492
|
|
NM_000535.7(PMS2):c.582T>G (p.Ile194Met)
|
rs1554302490
|
|
NM_000535.7(PMS2):c.584C>T (p.Ser195Leu)
|
rs2128801488
|
|
NM_000535.7(PMS2):c.586G>A (p.Ala196Thr)
|
rs1784818316
|
|
NM_000535.7(PMS2):c.586G>C (p.Ala196Pro)
|
rs1784818316
|
|
NM_000535.7(PMS2):c.587C>G (p.Ala196Gly)
|
|
|
NM_000535.7(PMS2):c.587C>T (p.Ala196Val)
|
rs1554302485
|
|
NM_000535.7(PMS2):c.58C>A (p.Arg20=)
|
rs573374779
|
|
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)
|
rs573374779
|
|
NM_000535.7(PMS2):c.590G>A (p.Gly197Asp)
|
rs1260124992
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
NM_000535.7(PMS2):c.596G>C (p.Arg199Pro)
|
rs876658387
|
|
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
|
|
|
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro)
|
rs10254120
|
|
NM_000535.7(PMS2):c.601A>G (p.Ser201Gly)
|
rs1784814672
|
|
NM_000535.7(PMS2):c.602G>C (p.Ser201Thr)
|
rs2128801100
|
|
NM_000535.7(PMS2):c.603T>C (p.Ser201=)
|
|
|
NM_000535.7(PMS2):c.605G>A (p.Cys202Tyr)
|
|
|
NM_000535.7(PMS2):c.605G>T (p.Cys202Phe)
|
|
|
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala)
|
rs730881907
|
|
NM_000535.7(PMS2):c.608C>T (p.Thr203Ile)
|
rs779946576
|
|
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp)
|
rs1554302457
|
|
NM_000535.7(PMS2):c.610A>C (p.Asn204His)
|
rs746910555
|
|
NM_000535.7(PMS2):c.613C>G (p.Gln205Glu)
|
rs758250810
|
|
NM_000535.7(PMS2):c.614A>G (p.Gln205Arg)
|
rs587779342
|
|
NM_000535.7(PMS2):c.614A>T (p.Gln205Leu)
|
rs587779342
|
|
NM_000535.7(PMS2):c.615G>C (p.Gln205His)
|
rs752499497
|
|
NM_000535.7(PMS2):c.616C>G (p.Leu206Val)
|
|
|
NM_000535.7(PMS2):c.617T>A (p.Leu206His)
|
rs1784810263
|
|
NM_000535.7(PMS2):c.617T>C (p.Leu206Pro)
|
|
|
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg)
|
rs368847322
|
|
NM_000535.7(PMS2):c.619G>C (p.Gly207Arg)
|
rs368847322
|
|
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala)
|
rs374704824
|
|
NM_000535.7(PMS2):c.622C>G (p.Gln208Glu)
|
rs1784808623
|
|
NM_000535.7(PMS2):c.623A>G (p.Gln208Arg)
|
rs1554302423
|
|
NM_000535.7(PMS2):c.625G>A (p.Gly209Arg)
|
rs1784808075
|
|
NM_000535.7(PMS2):c.628A>C (p.Lys210Gln)
|
|
|
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr)
|
rs753562256
|
|
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
|
|
|
NM_000535.7(PMS2):c.630A>C (p.Lys210Asn)
|
|
|
NM_000535.7(PMS2):c.631C>G (p.Arg211Gly)
|
rs760228510
|
|
NM_000535.7(PMS2):c.632G>C (p.Arg211Pro)
|
|
|
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu)
|
rs587781934
|
|
NM_000535.7(PMS2):c.635A>C (p.Gln212Pro)
|
rs1583386594
|
|
NM_000535.7(PMS2):c.635A>G (p.Gln212Arg)
|
rs1583386594
|
|
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
|
rs1784804225
|
|
NM_000535.7(PMS2):c.636G>C (p.Gln212His)
|
rs1784804225
|
|
NM_000535.7(PMS2):c.637C>T (p.Pro213Ser)
|
|
|
NM_000535.7(PMS2):c.638C>G (p.Pro213Arg)
|
rs1784803938
|
|
NM_000535.7(PMS2):c.63G>T (p.Lys21Asn)
|
rs772643900
|
|
NM_000535.7(PMS2):c.640G>A (p.Val214Met)
|
|
|
NM_000535.7(PMS2):c.641T>C (p.Val214Ala)
|
|
|
NM_000535.7(PMS2):c.641T>G (p.Val214Gly)
|
rs864622706
|
|
NM_000535.7(PMS2):c.643G>C (p.Val215Leu)
|
rs1064794017
|
|
NM_000535.7(PMS2):c.643G>T (p.Val215Leu)
|
|
|
NM_000535.7(PMS2):c.644T>C (p.Val215Ala)
|
rs1554302383
|
|
NM_000535.7(PMS2):c.646T>C (p.Cys216Arg)
|
rs371402182
|
|
NM_000535.7(PMS2):c.649A>C (p.Thr217Pro)
|
rs1784800451
|
|
NM_000535.7(PMS2):c.649A>G (p.Thr217Ala)
|
rs1784800451
|
|
NM_000535.7(PMS2):c.650C>A (p.Thr217Lys)
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg)
|
rs878854055
|
|
NM_000535.7(PMS2):c.656G>A (p.Gly219Glu)
|
rs749431015
|
|
NM_000535.7(PMS2):c.658A>G (p.Ser220Gly)
|
rs2128800007
|
|
NM_000535.7(PMS2):c.659G>C (p.Ser220Thr)
|
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
NM_000535.7(PMS2):c.65C>T (p.Ser22Leu)
|
rs767028531
|
|
NM_000535.7(PMS2):c.661C>T (p.Pro221Ser)
|
|
|
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg)
|
rs878854056
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
NM_000535.7(PMS2):c.664A>G (p.Ser222Gly)
|
|
|
NM_000535.7(PMS2):c.665G>C (p.Ser222Thr)
|
|
|
NM_000535.7(PMS2):c.665G>T (p.Ser222Ile)
|
rs560462942
|
|
NM_000535.7(PMS2):c.666C>G (p.Ser222Arg)
|
rs1784796294
|
|
NM_000535.7(PMS2):c.667A>C (p.Ile223Leu)
|
rs876660067
|
|
NM_000535.7(PMS2):c.668T>A (p.Ile223Lys)
|
|
|
NM_000535.7(PMS2):c.668T>C (p.Ile223Thr)
|
|
|
NM_000535.7(PMS2):c.670A>G (p.Lys224Glu)
|
rs1784795307
|
|
NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)
|
|
|
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)
|
rs748141595
|
|
NM_000535.7(PMS2):c.673G>A (p.Glu225Lys)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.673G>C (p.Glu225Gln)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.674A>G (p.Glu225Gly)
|
rs2128799688
|
|
NM_000535.7(PMS2):c.676A>G (p.Asn226Asp)
|
rs587782791
|
|
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser)
|
rs778534735
|
|
NM_000535.7(PMS2):c.679A>G (p.Ile227Val)
|
rs1554302326
|
|
NM_000535.7(PMS2):c.67G>A (p.Val23Ile)
|
|
|
NM_000535.7(PMS2):c.680T>C (p.Ile227Thr)
|
|
|
NM_000535.7(PMS2):c.680T>G (p.Ile227Ser)
|
rs1583385976
|
|
NM_000535.7(PMS2):c.683G>T (p.Gly228Val)
|
rs1554302319
|
|
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro)
|
rs730881909
|
|
NM_000535.7(PMS2):c.688G>A (p.Val230Met)
|
rs1562677528
|
|
NM_000535.7(PMS2):c.689T>A (p.Val230Glu)
|
rs1583385769
|
|
NM_000535.7(PMS2):c.689_690delinsAT (p.Val230Asp)
|
|
|
NM_000535.7(PMS2):c.68T>G (p.Val23Gly)
|
rs1060503114
|
|
NM_000535.7(PMS2):c.692T>C (p.Phe231Ser)
|
|
|
NM_000535.7(PMS2):c.694G>C (p.Gly232Arg)
|
rs1266098796
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.695G>C (p.Gly232Ala)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.698A>G (p.Gln233Arg)
|
rs1784786188
|
|
NM_000535.7(PMS2):c.700A>G (p.Lys234Glu)
|
rs1554302295
|
|
NM_000535.7(PMS2):c.703C>G (p.Gln235Glu)
|
rs63750261
|
|
NM_000535.7(PMS2):c.704A>C (p.Gln235Pro)
|
rs2128798976
|
|
NM_000535.7(PMS2):c.705+10del
|
|
|
NM_000535.7(PMS2):c.705+4G>C
|
rs1784783143
|
|
NM_000535.7(PMS2):c.705+5T>C
|
rs763422964
|
|
NM_000535.7(PMS2):c.705+5T>G
|
|
|
NM_000535.7(PMS2):c.705+6G>A
|
rs2128798888
|
|
NM_000535.7(PMS2):c.705G>A (p.Gln235=)
|
rs876660872
|
|
NM_000535.7(PMS2):c.705G>C (p.Gln235His)
|
rs876660872
|
|
NM_000535.7(PMS2):c.706-3C>A
|
rs1229860023
|
|
NM_000535.7(PMS2):c.706-3delinsTA
|
rs1436961952
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.709C>G (p.Gln237Glu)
|
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly)
|
rs1060503149
|
|
NM_000535.7(PMS2):c.712A>T (p.Ser238Cys)
|
|
|
NM_000535.7(PMS2):c.715C>G (p.Leu239Val)
|
rs1554301543
|
|
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe)
|
rs1554301543
|
|
NM_000535.7(PMS2):c.716T>G (p.Leu239Arg)
|
rs1060503136
|
|
NM_000535.7(PMS2):c.718A>T (p.Ile240Phe)
|
rs746592049
|
|
NM_000535.7(PMS2):c.719T>A (p.Ile240Asn)
|
|
|
NM_000535.7(PMS2):c.71A>G (p.His24Arg)
|
rs139233015
|
|
NM_000535.7(PMS2):c.71A>T (p.His24Leu)
|
rs139233015
|
|
NM_000535.7(PMS2):c.721C>A (p.Pro241Thr)
|
|
|
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala)
|
rs779411667
|
|
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg)
|
rs1554301523
|
|
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu)
|
rs1554301523
|
|
NM_000535.7(PMS2):c.726T>A (p.Phe242Leu)
|
rs1346863182
|
|
NM_000535.7(PMS2):c.727G>C (p.Val243Leu)
|
rs867655834
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
|
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736C>T (p.Pro246Ser)
|
rs765668173
|
|
NM_000535.7(PMS2):c.737C>A (p.Pro246His)
|
rs1562670885
|
|
NM_000535.7(PMS2):c.739C>A (p.Pro247Thr)
|
rs878854058
|
|
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala)
|
rs878854058
|
|
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser)
|
rs878854058
|
|
NM_000535.7(PMS2):c.744T>A (p.Ser248Arg)
|
rs1554301489
|
|
NM_000535.7(PMS2):c.744T>G (p.Ser248Arg)
|
rs1554301489
|
|
NM_000535.7(PMS2):c.745G>C (p.Asp249His)
|
rs1244322338
|
|
NM_000535.7(PMS2):c.749C>G (p.Ser250Cys)
|
rs2128787602
|
|
NM_000535.7(PMS2):c.751G>C (p.Val251Leu)
|
rs142434011
|
|
NM_000535.7(PMS2):c.751G>T (p.Val251Leu)
|
rs142434011
|
|
NM_000535.7(PMS2):c.754T>A (p.Cys252Ser)
|
|
|
NM_000535.7(PMS2):c.754T>C (p.Cys252Arg)
|
rs1784532607
|
|
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala)
|
rs876661002
|
|
NM_000535.7(PMS2):c.759_764del (p.Glu253_Tyr255delinsAsp)
|
rs1562670309
|
|
NM_000535.7(PMS2):c.75G>C (p.Gln25His)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.75G>T (p.Gln25His)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.761A>G (p.Glu254Gly)
|
rs1784530360
|
|
NM_000535.7(PMS2):c.761A>T (p.Glu254Val)
|
|
|
NM_000535.7(PMS2):c.762G>T (p.Glu254Asp)
|
rs1784530093
|
|
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn)
|
rs1554301471
|
|
NM_000535.7(PMS2):c.764A>G (p.Tyr255Cys)
|
rs1268217925
|
|
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg)
|
rs587782633
|
|
NM_000535.7(PMS2):c.767G>A (p.Gly256Asp)
|
|
|
NM_000535.7(PMS2):c.76A>C (p.Ile26Leu)
|
rs1412094620
|
|
NM_000535.7(PMS2):c.76A>T (p.Ile26Phe)
|
rs1412094620
|
|
NM_000535.7(PMS2):c.770T>C (p.Leu257Ser)
|
rs1554301463
|
|
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp)
|
rs1554301463
|
|
NM_000535.7(PMS2):c.772A>G (p.Ser258Gly)
|
rs2128787031
|
|
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn)
|
rs587780727
|
|
NM_000535.7(PMS2):c.774C>G (p.Ser258Arg)
|
rs1784526585
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)
|
rs1554301436
|
|
NM_000535.7(PMS2):c.775T>C (p.Cys259Arg)
|
rs1554301455
|
|
NM_000535.7(PMS2):c.776G>A (p.Cys259Tyr)
|
|
|
NM_000535.7(PMS2):c.776G>C (p.Cys259Ser)
|
|
|
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
|
|
|
NM_000535.7(PMS2):c.779C>A (p.Ser260Tyr)
|
rs777286241
|
|
NM_000535.7(PMS2):c.779C>G (p.Ser260Cys)
|
rs777286241
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
NM_000535.7(PMS2):c.77T>C (p.Ile26Thr)
|
rs1583419301
|
|
NM_000535.7(PMS2):c.780_781delinsGA (p.Asp261Asn)
|
rs1784522955
|
|
NM_000535.7(PMS2):c.781G>A (p.Asp261Asn)
|
rs1060503150
|
|
NM_000535.7(PMS2):c.782A>G (p.Asp261Gly)
|
rs1562669887
|
|
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)
|
rs779625900
|
|
NM_000535.7(PMS2):c.784G>T (p.Ala262Ser)
|
rs779625900
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789_790delinsTT (p.His264Tyr)
|
|
|
NM_000535.7(PMS2):c.790C>T (p.His264Tyr)
|
rs2128786522
|
|
NM_000535.7(PMS2):c.791A>C (p.His264Pro)
|
rs1060503129
|
|
NM_000535.7(PMS2):c.792T>G (p.His264Gln)
|
rs1554301398
|
|
NM_000535.7(PMS2):c.796C>G (p.Leu266Val)
|
rs1583373747
|
|
NM_000535.7(PMS2):c.7C>G (p.Arg3Gly)
|
|
|
NM_000535.7(PMS2):c.800T>G (p.Phe267Cys)
|
|
|
NM_000535.7(PMS2):c.801T>G (p.Phe267Leu)
|
rs1554301382
|
|
NM_000535.7(PMS2):c.802T>C (p.Tyr268His)
|
rs1583373654
|
|
NM_000535.7(PMS2):c.803+3A>T
|
|
|
NM_000535.7(PMS2):c.804-13T>G
|
rs1562664935
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-3T>C
|
rs1562664868
|
|
NM_000535.7(PMS2):c.804-3T>G
|
rs1562664868
|
|
NM_000535.7(PMS2):c.804-4A>C
|
rs1475598645
|
|
NM_000535.7(PMS2):c.804-4A>G
|
rs1475598645
|
|
NM_000535.7(PMS2):c.804-8T>C
|
rs1562664890
|
|
NM_000535.7(PMS2):c.805A>G (p.Ile269Val)
|
rs1554300825
|
|
NM_000535.7(PMS2):c.807C>G (p.Ile269Met)
|
rs1784316728
|
|
NM_000535.7(PMS2):c.80G>A (p.Cys27Tyr)
|
rs2128845886
|
|
NM_000535.7(PMS2):c.80G>T (p.Cys27Phe)
|
rs2128845886
|
|
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser)
|
rs1583364895
|
|
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
|
rs1583364867
|
|
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
|
rs587778621
|
|
NM_000535.7(PMS2):c.821C>T (p.Ser274Leu)
|
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)
|
rs1554300806
|
|
NM_000535.7(PMS2):c.829A>T (p.Thr277Ser)
|
rs1583364586
|
|
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala)
|
rs587781908
|
|
NM_000535.7(PMS2):c.832C>A (p.His278Asn)
|
rs1554300796
|
|
NM_000535.7(PMS2):c.833A>C (p.His278Pro)
|
rs1562664434
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
NM_000535.7(PMS2):c.834T>A (p.His278Gln)
|
rs2128776000
|
|
NM_000535.7(PMS2):c.836G>A (p.Gly279Glu)
|
rs587782668
|
|
NM_000535.7(PMS2):c.836G>T (p.Gly279Val)
|
rs587782668
|
|
NM_000535.7(PMS2):c.838G>A (p.Val280Ile)
|
|
|
NM_000535.7(PMS2):c.838G>T (p.Val280Phe)
|
|
|
NM_000535.7(PMS2):c.839T>A (p.Val280Asp)
|
rs1159880186
|
|
NM_000535.7(PMS2):c.83C>T (p.Ser28Phe)
|
rs1785707505
|
|
NM_000535.7(PMS2):c.841G>A (p.Gly281Arg)
|
rs1784309424
|
|
NM_000535.7(PMS2):c.842G>A (p.Gly281Glu)
|
rs2128775853
|
|
NM_000535.7(PMS2):c.845G>A (p.Arg282Lys)
|
rs2128775792
|
|
NM_000535.7(PMS2):c.846G>C (p.Arg282Ser)
|
|
|
NM_000535.7(PMS2):c.846_848del (p.Arg282del)
|
rs776688670
|
|
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)
|
rs1277038817
|
|
NM_000535.7(PMS2):c.849_850inv (p.Ser283_Ser284delinsArgThr)
|
|
|
NM_000535.7(PMS2):c.850T>C (p.Ser284Pro)
|
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
NM_000535.7(PMS2):c.853A>G (p.Thr285Ala)
|
rs760448660
|
|
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys)
|
rs1583364029
|
|
NM_000535.7(PMS2):c.854C>T (p.Thr285Ile)
|
rs1583364029
|
|
NM_000535.7(PMS2):c.856G>C (p.Asp286His)
|
|
|
NM_000535.7(PMS2):c.856_861del (p.Asp286_Arg287del)
|
rs2128775321
|
|
NM_000535.7(PMS2):c.857A>T (p.Asp286Val)
|
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
NM_000535.7(PMS2):c.859A>G (p.Arg287Gly)
|
rs876658712
|
|
NM_000535.7(PMS2):c.85G>A (p.Gly29Arg)
|
rs1583419271
|
|
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys)
|
rs1060503122
|
|
NM_000535.7(PMS2):c.863A>G (p.Gln288Arg)
|
rs1784301984
|
|
NM_000535.7(PMS2):c.864G>T (p.Gln288His)
|
rs990212889
|
|
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu)
|
rs771787834
|
|
NM_000535.7(PMS2):c.865T>G (p.Phe289Val)
|
rs771787834
|
|
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu)
|
rs587782833
|
|
NM_000535.7(PMS2):c.869T>A (p.Phe290Tyr)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.870C>G (p.Phe290Leu)
|
|
|
NM_000535.7(PMS2):c.873T>C (p.Phe291=)
|
|
|
NM_000535.7(PMS2):c.874A>G (p.Ile292Val)
|
rs587781281
|
|
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe)
|
rs587781281
|
|
NM_000535.7(PMS2):c.877A>T (p.Asn293Tyr)
|
rs530993704
|
|
NM_000535.7(PMS2):c.878A>C (p.Asn293Thr)
|
rs1274671450
|
|
NM_000535.7(PMS2):c.87G>T (p.Gly29=)
|
rs876659642
|
|
NM_000535.7(PMS2):c.884G>C (p.Arg295Pro)
|
|
|
NM_000535.7(PMS2):c.884G>T (p.Arg295Leu)
|
|
|
NM_000535.7(PMS2):c.886C>G (p.Pro296Ala)
|
rs375553553
|
|
NM_000535.7(PMS2):c.887C>A (p.Pro296His)
|
rs1562663523
|
|
NM_000535.7(PMS2):c.887C>T (p.Pro296Leu)
|
rs1562663523
|
|
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly)
|
rs1562663507
|
|
NM_000535.7(PMS2):c.88C>G (p.Gln30Glu)
|
rs141577476
|
|
NM_000535.7(PMS2):c.890G>A (p.Cys297Tyr)
|
rs869312802
|
|
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser)
|
rs869312802
|
|
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly)
|
rs876658970
|
|
NM_000535.7(PMS2):c.894C>A (p.Asp298Glu)
|
|
|
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr)
|
rs1562663421
|
|
NM_000535.7(PMS2):c.896C>G (p.Pro299Arg)
|
rs1402108044
|
|
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu)
|
rs1402108044
|
|
NM_000535.7(PMS2):c.898G>C (p.Ala300Pro)
|
rs771561768
|
|
NM_000535.7(PMS2):c.899C>T (p.Ala300Val)
|
rs1554300702
|
|
NM_000535.7(PMS2):c.8G>C (p.Arg3Pro)
|
rs375507981
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
NM_000535.7(PMS2):c.903+17T>A
|
rs1784288209
|
|
NM_000535.7(PMS2):c.903+3A>G
|
rs1562663258
|
|
NM_000535.7(PMS2):c.903+5T>A
|
rs1419635604
|
|
NM_000535.7(PMS2):c.903+5T>C
|
rs1419635604
|
|
NM_000535.7(PMS2):c.903+5T>G
|
|
|
NM_000535.7(PMS2):c.903+6T>C
|
rs1784289590
|
|
NM_000535.7(PMS2):c.904-14T>A
|
rs1064795266
|
|
NM_000535.7(PMS2):c.904-18_904-16delinsGAG
|
|
|
NM_000535.7(PMS2):c.904-3C>T
|
|
|
NM_000535.7(PMS2):c.904G>A (p.Val302Ile)
|
rs755960629
|
|
NM_000535.7(PMS2):c.910A>G (p.Arg304Gly)
|
rs1583345773
|
|
NM_000535.7(PMS2):c.911G>A (p.Arg304Lys)
|
rs1562652035
|
|
NM_000535.7(PMS2):c.912A>T (p.Arg304Ser)
|
|
|
NM_000535.7(PMS2):c.913C>T (p.Leu305Phe)
|
rs750420143
|
|
NM_000535.7(PMS2):c.914T>A (p.Leu305His)
|
|
|
NM_000535.7(PMS2):c.914T>G (p.Leu305Arg)
|
rs1583345706
|
|
NM_000535.7(PMS2):c.916G>C (p.Val306Leu)
|
rs587780063
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
NM_000535.7(PMS2):c.919A>G (p.Asn307Asp)
|
|
|
NM_000535.7(PMS2):c.91G>A (p.Val31Met)
|
rs786203763
|
|
NM_000535.7(PMS2):c.91G>T (p.Val31Leu)
|
rs786203763
|
|
NM_000535.7(PMS2):c.920A>C (p.Asn307Thr)
|
rs1583345602
|
|
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)
|
rs1583345602
|
|
NM_000535.7(PMS2):c.921T>G (p.Asn307Lys)
|
rs587779346
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
NM_000535.7(PMS2):c.923A>C (p.Glu308Ala)
|
rs1305296572
|
|
NM_000535.7(PMS2):c.925G>A (p.Val309Ile)
|
rs763718441
|
|
NM_000535.7(PMS2):c.925G>T (p.Val309Phe)
|
rs763718441
|
|
NM_000535.7(PMS2):c.928T>C (p.Tyr310His)
|
rs2128755950
|
|
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)
|
rs372172981
|
|
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe)
|
rs372172981
|
|
NM_000535.7(PMS2):c.931C>G (p.His311Asp)
|
|
|
NM_000535.7(PMS2):c.931C>T (p.His311Tyr)
|
rs2128755904
|
|
NM_000535.7(PMS2):c.933C>G (p.His311Gln)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)
|
rs786202567
|
|
NM_000535.7(PMS2):c.938A>C (p.Tyr313Ser)
|
rs587782513
|
|
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys)
|
rs587782513
|
|
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
|
|
|
NM_000535.7(PMS2):c.943C>G (p.Arg315Gly)
|
rs200640585
|
|
NM_000535.7(PMS2):c.944G>T (p.Arg315Leu)
|
|
|
NM_000535.7(PMS2):c.946C>T (p.His316Tyr)
|
rs2128755632
|
|
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
|
rs1219573982
|
|
NM_000535.7(PMS2):c.948C>G (p.His316Gln)
|
rs1219573982
|
|
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)
|
rs143277125
|
|
NM_000535.7(PMS2):c.94G>T (p.Val32Leu)
|
rs977251189
|
|
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
|
rs537024768
|
|
NM_000535.7(PMS2):c.955C>A (p.Pro319Thr)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.956C>G (p.Pro319Arg)
|
rs1562651380
|
|
NM_000535.7(PMS2):c.956C>T (p.Pro319Leu)
|
rs1562651380
|
|
NM_000535.7(PMS2):c.959T>C (p.Phe320Ser)
|
rs1060503121
|
|
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys)
|
rs1060503121
|
|
NM_000535.7(PMS2):c.95T>C (p.Val32Ala)
|
|
|
NM_000535.7(PMS2):c.961GTT[1] (p.Val322del)
|
|
|
NM_000535.7(PMS2):c.964G>T (p.Val322Phe)
|
rs587782208
|
|
NM_000535.7(PMS2):c.967C>G (p.Leu323Val)
|
rs1554299391
|
|
NM_000535.7(PMS2):c.970A>T (p.Asn324Tyr)
|
rs1562651233
|
|
NM_000535.7(PMS2):c.971A>C (p.Asn324Thr)
|
rs1554299388
|
|
NM_000535.7(PMS2):c.971A>G (p.Asn324Ser)
|
rs1554299388
|
|
NM_000535.7(PMS2):c.972C>G (p.Asn324Lys)
|
rs182085259
|
|
NM_000535.7(PMS2):c.973A>G (p.Ile325Val)
|
|
|
NM_000535.7(PMS2):c.975T>G (p.Ile325Met)
|
rs1583344828
|
|
NM_000535.7(PMS2):c.976T>C (p.Ser326Pro)
|
rs2128755123
|
|
NM_000535.7(PMS2):c.977C>G (p.Ser326Cys)
|
rs2128755117
|
|
NM_000535.7(PMS2):c.979G>A (p.Val327Ile)
|
rs1257825900
|
|
NM_000535.7(PMS2):c.979G>C (p.Val327Leu)
|
rs1257825900
|
|
NM_000535.7(PMS2):c.982G>A (p.Asp328Asn)
|
|
|
NM_000535.7(PMS2):c.986C>T (p.Ser329Leu)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.988+4A>C
|
rs763959308
|
|
NM_000535.7(PMS2):c.988+5G>A
|
rs1783785796
|
|
NM_000535.7(PMS2):c.989-107_989-106insA
|
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
NM_000535.7(PMS2):c.989-8T>A
|
rs1583336015
|
|
NM_000535.7(PMS2):c.990A>G (p.Glu330=)
|
rs2128749040
|
|
NM_000535.7(PMS2):c.991T>G (p.Cys331Gly)
|
rs1554298831
|
|
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr)
|
rs1184563006
|
|
NM_000535.7(PMS2):c.994G>C (p.Val332Leu)
|
rs1236095389
|
|
NM_000535.7(PMS2):c.995T>A (p.Val332Asp)
|
rs2128748950
|
|
NM_000535.7(PMS2):c.998A>C (p.Asp333Ala)
|
rs1187390273
|
|
NM_000545.8(HNF1A):c.-187C>A
|
rs970766228
|
|
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
|
|
|
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)
|
rs1877098583
|
|
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr)
|
rs587780356
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1168G>C (p.Glu390Gln)
|
rs1877115047
|
|
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)
|
rs747433197
|
|
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)
|
rs193922577
|
|
NM_000545.8(HNF1A):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_000545.8(HNF1A):c.1295C>G (p.Ser432Cys)
|
|
|
NM_000545.8(HNF1A):c.1295C>T (p.Ser432Phe)
|
|
|
NM_000545.8(HNF1A):c.137A>C (p.Lys46Thr)
|
rs2135819731
|
|
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
|
rs544842497
|
|
NM_000545.8(HNF1A):c.139G>A (p.Gly47Arg)
|
rs373180062
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1481C>T (p.Ala494Val)
|
|
|
NM_000545.8(HNF1A):c.14T>G (p.Leu5Arg)
|
rs188016232
|
|
NM_000545.8(HNF1A):c.1501+5G>C
|
rs1399164820
|
|
NM_000545.8(HNF1A):c.1505T>A (p.Leu502His)
|
rs2135850526
|
|
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp)
|
rs1877291173
|
|
NM_000545.8(HNF1A):c.152G>T (p.Gly51Val)
|
rs776710848
|
|
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met)
|
rs745460046
|
|
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
|
|
|
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=)
|
rs886038346
|
|
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
|
rs587778393
|
|
NM_000545.8(HNF1A):c.1576G>T (p.Asp526Tyr)
|
|
|
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)
|
rs1421619915
|
|
NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1623+3A>G
|
rs886038347
|
|
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
|
|
|
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)
|
rs1877313665
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)
|
rs1877319456
|
|
NM_000545.8(HNF1A):c.1733del (p.Leu578fs)
|
rs1592898227
|
|
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)
|
rs137853239
|
|
NM_000545.8(HNF1A):c.1768+11C>T
|
rs886049034
|
|
NM_000545.8(HNF1A):c.1768+65dup
|
rs193922590
|
|
NM_000545.8(HNF1A):c.1769-1G>A
|
rs2135854372
|
|
NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg)
|
rs751112023
|
|
NM_000545.8(HNF1A):c.1803dup (p.Asp602fs)
|
rs2135854526
|
|
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)
|
rs1555212747
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)
|
rs137853241
|
|
NM_000545.8(HNF1A):c.1864_1890dup (p.Ile622_Ser630dup)
|
rs2135854764
|
|
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
|
|
|
NM_000545.8(HNF1A):c.1873C>T (p.Gln625Ter)
|
rs1057473810
|
|
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu)
|
rs2135819938
|
|
NM_000545.8(HNF1A):c.202C>T (p.Arg68Trp)
|
rs779442858
|
|
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
|
|
|
NM_000545.8(HNF1A):c.225C>A (p.Asp75Glu)
|
rs202180554
|
|
NM_000545.8(HNF1A):c.225C>G (p.Asp75Glu)
|
rs202180554
|
|
NM_000545.8(HNF1A):c.22C>A (p.Leu8Met)
|
rs2135819378
|
|
NM_000545.8(HNF1A):c.26A>C (p.Gln9Pro)
|
rs1876081310
|
|
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)
|
rs1876081310
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
NM_000545.8(HNF1A):c.323T>C (p.Leu108Pro)
|
rs2135820418
|
|
NM_000545.8(HNF1A):c.326+2dup
|
rs2135820427
|
|
NM_000545.8(HNF1A):c.326+4A>G
|
rs193922595
|
|
NM_000545.8(HNF1A):c.327-14T>C
|
rs886049033
|
|
NM_000545.8(HNF1A):c.332A>G (p.Asp111Gly)
|
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile)
|
rs1179591039
|
|
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
|
|
|
NM_000545.8(HNF1A):c.35T>A (p.Leu12His)
|
rs2135819422
|
|
NM_000545.8(HNF1A):c.35T>C (p.Leu12Pro)
|
rs2135819422
|
|
NM_000545.8(HNF1A):c.364T>C (p.Tyr122His)
|
rs2135832520
|
|
NM_000545.8(HNF1A):c.368T>C (p.Leu123Pro)
|
rs2135832538
|
|
NM_000545.8(HNF1A):c.368T>G (p.Leu123Arg)
|
rs2135832538
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.382A>G (p.Ile128Val)
|
rs1876669657
|
|
NM_000545.8(HNF1A):c.383T>A (p.Ile128Asn)
|
rs2135832570
|
|
NM_000545.8(HNF1A):c.385C>A (p.Pro129Thr)
|
rs1876669818
|
|
NM_000545.8(HNF1A):c.397G>T (p.Val133Leu)
|
rs2135832611
|
|
NM_000545.8(HNF1A):c.403G>A (p.Asp135Asn)
|
rs1876671241
|
|
NM_000545.8(HNF1A):c.410C>G (p.Thr137Ser)
|
rs1876671890
|
|
NM_000545.8(HNF1A):c.412G>A (p.Gly138Ser)
|
rs2135832646
|
|
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)
|
rs772214801
|
|
NM_000545.8(HNF1A):c.425C>A (p.Ser142Tyr)
|
rs2135832668
|
|
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
|
|
|
NM_000545.8(HNF1A):c.433T>C (p.Ser145Pro)
|
rs1248375417
|
|
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
|
rs193922597
|
|
NM_000545.8(HNF1A):c.44C>T (p.Ala15Val)
|
rs2135819440
|
|
NM_000545.8(HNF1A):c.46C>G (p.Leu16Val)
|
rs2135819447
|
|
NM_000545.8(HNF1A):c.47T>C (p.Leu16Pro)
|
rs2135819448
|
|
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro)
|
rs1555211434
|
|
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro)
|
rs772597940
|
|
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
|
|
|
NM_000545.8(HNF1A):c.49C>G (p.Leu17Val)
|
rs1876083246
|
|
NM_000545.8(HNF1A):c.503G>C (p.Arg168Pro)
|
|
|
NM_000545.8(HNF1A):c.526+2dup
|
rs1555211448
|
|
NM_000545.8(HNF1A):c.539C>G (p.Ala180Gly)
|
|
|
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)
|
rs1064793150
|
|
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)
|
rs1876084584
|
|
NM_000545.8(HNF1A):c.60G>C (p.Gly20=)
|
rs1449504165
|
|
NM_000545.8(HNF1A):c.613A>C (p.Lys205Gln)
|
rs2135839309
|
|
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)
|
rs1057524898
|
|
NM_000545.8(HNF1A):c.618G>C (p.Trp206Cys)
|
rs2135839338
|
|
NM_000545.8(HNF1A):c.650C>G (p.Ala217Gly)
|
rs2135839548
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
NM_000545.8(HNF1A):c.66C>G (p.Ser22Arg)
|
|
|
NM_000545.8(HNF1A):c.676_678del (p.Lys226del)
|
rs1555211927
|
|
NM_000545.8(HNF1A):c.682G>A (p.Glu228Lys)
|
rs747416693
|
|
NM_000545.8(HNF1A):c.683A>G (p.Glu228Gly)
|
rs2135839809
|
|
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)
|
rs1353807357
|
|
NM_000545.8(HNF1A):c.710A>C (p.Asn237Thr)
|
rs1555211935
|
|
NM_000545.8(HNF1A):c.711_713del (p.Asn237_Arg238delinsLys)
|
rs2135840027
|
|
NM_000545.8(HNF1A):c.713+10C>T
|
|
|
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr)
|
rs2135841113
|
|
NM_000545.8(HNF1A):c.725T>C (p.Ile242Thr)
|
rs2135841137
|
|
NM_000545.8(HNF1A):c.727C>G (p.Gln243Glu)
|
|
|
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)
|
rs193922602
|
|
NM_000545.8(HNF1A):c.732A>T (p.Arg244Ser)
|
rs2135841190
|
|
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg)
|
rs2135841196
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala)
|
rs2135841238
|
|
NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr)
|
rs587778394
|
|
NM_000545.8(HNF1A):c.73G>C (p.Ala25Pro)
|
rs587778394
|
|
NM_000545.8(HNF1A):c.745T>C (p.Ser249Pro)
|
rs2135841315
|
|
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro)
|
rs1555211982
|
|
NM_000545.8(HNF1A):c.760C>A (p.Leu254Met)
|
rs2135841451
|
|
NM_000545.8(HNF1A):c.761T>A (p.Leu254Gln)
|
rs2135841460
|
|
NM_000545.8(HNF1A):c.763G>A (p.Gly255Ser)
|
rs2135841479
|
|
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe)
|
rs1555211986
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys)
|
rs1555212006
|
|
NM_000545.8(HNF1A):c.797A>G (p.Asn266Ser)
|
rs2135841726
|
|
NM_000545.8(HNF1A):c.798C>G (p.Asn266Lys)
|
rs2135841730
|
|
NM_000545.8(HNF1A):c.801_802insGGG (p.Trp267_Phe268insGly)
|
rs1555212009
|
|
NM_000545.8(HNF1A):c.80T>C (p.Ile27Thr)
|
rs2135819576
|
|
NM_000545.8(HNF1A):c.80T>G (p.Ile27Ser)
|
rs2135819576
|
|
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln)
|
rs1555212016
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.823G>A (p.Glu275Lys)
|
rs2135841942
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro)
|
rs1876087643
|
|
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)
|
rs539507291
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.866C>A (p.Pro289His)
|
rs267603343
|
|
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)
|
rs267603343
|
|
NM_000545.8(HNF1A):c.870C>T (p.Pro290=)
|
rs779008957
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
NM_000545.8(HNF1A):c.98C>G (p.Pro33Arg)
|
rs1001854457
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
NM_000572.3(IL10):c.100C>A (p.Pro34Thr)
|
rs2102441015
|
|
NM_000572.3(IL10):c.112C>G (p.Pro38Ala)
|
|
|
NM_000572.3(IL10):c.118A>G (p.Met40Val)
|
|
|
NM_000572.3(IL10):c.137A>G (p.Asp46Gly)
|
|
|
NM_000572.3(IL10):c.209T>A (p.Leu70Ter)
|
rs1558603013
|
|
NM_000572.3(IL10):c.241C>A (p.Gln81Lys)
|
rs2102439318
|
|
NM_000572.3(IL10):c.257T>A (p.Met86Lys)
|
|
|
NM_000572.3(IL10):c.320C>A (p.Ala107Glu)
|
|
|
NM_000572.3(IL10):c.323A>G (p.His108Arg)
|
rs1307541646
|
|
NM_000572.3(IL10):c.332C>T (p.Ser111Phe)
|
rs1674812448
|
|
NM_000572.3(IL10):c.374G>T (p.Arg125Leu)
|
rs374619208
|
|
NM_000572.3(IL10):c.383G>A (p.Arg128Gln)
|
rs760677075
|
|
NM_000572.3(IL10):c.386T>A (p.Phe129Tyr)
|
|
|
NM_000572.3(IL10):c.424G>C (p.Val142Leu)
|
|
|
NM_000572.3(IL10):c.443A>G (p.Lys148Arg)
|
|
|
NM_000572.3(IL10):c.46G>T (p.Val16Leu)
|
rs1674878129
|
|
NM_000572.3(IL10):c.502A>G (p.Ile168Val)
|
rs2102436707
|
|
NM_000572.3(IL10):c.503T>A (p.Ile168Lys)
|
|
|
NM_000572.3(IL10):c.507A>C (p.Glu169Asp)
|
rs568879359
|
|
NM_000572.3(IL10):c.529C>T (p.Arg177Ter)
|
|
|
NM_000572.3(IL10):c.534C>A (p.Asn178Lys)
|
|
|
NM_000572.3(IL10):c.534C>G (p.Asn178Lys)
|
rs771277922
|
|
NM_000572.3(IL10):c.62G>A (p.Gly21Asp)
|
|
|
NM_000572.3(IL10):c.71C>G (p.Thr24Ser)
|
rs1674877288
|
|
NM_000572.3(IL10):c.92C>T (p.Thr31Ile)
|
|
|
NM_000572.3(IL10):c.94C>A (p.His32Asn)
|
rs376787667
|
|
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.107A>C (p.Asn36Thr)
|
rs2123561113
|
|
NM_000628.5(IL10RB):c.116A>G (p.Gln39Arg)
|
|
|
NM_000628.5(IL10RB):c.157A>C (p.Thr53Pro)
|
rs1989015732
|
|
NM_000628.5(IL10RB):c.179G>C (p.Arg60Thr)
|
|
|
NM_000628.5(IL10RB):c.194A>G (p.Lys65Arg)
|
rs1269352420
|
|
NM_000628.5(IL10RB):c.1A>C (p.Met1Leu)
|
rs1266638189
|
|
NM_000628.5(IL10RB):c.1A>T (p.Met1Leu)
|
|
|
NM_000628.5(IL10RB):c.203A>T (p.Asn68Ile)
|
|
|
NM_000628.5(IL10RB):c.20G>A (p.Ser7Asn)
|
rs1042356155
|
|
NM_000628.5(IL10RB):c.274G>C (p.Glu92Gln)
|
rs2123573879
|
|
NM_000628.5(IL10RB):c.284A>T (p.Asp95Val)
|
|
|
NM_000628.5(IL10RB):c.298T>G (p.Trp100Gly)
|
rs868604197
|
|
NM_000628.5(IL10RB):c.29G>C (p.Gly10Ala)
|
|
|
NM_000628.5(IL10RB):c.301G>C (p.Val101Leu)
|
|
|
NM_000628.5(IL10RB):c.302T>C (p.Val101Ala)
|
rs2123573917
|
|
NM_000628.5(IL10RB):c.331+4A>T
|
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
NM_000628.5(IL10RB):c.332C>G (p.Thr111Ser)
|
rs769595310
|
|
NM_000628.5(IL10RB):c.343C>A (p.Pro115Thr)
|
|
|
NM_000628.5(IL10RB):c.35G>A (p.Cys12Tyr)
|
rs1988945494
|
|
NM_000628.5(IL10RB):c.367C>T (p.Leu123Phe)
|
rs1989246173
|
|
NM_000628.5(IL10RB):c.377C>T (p.Ser126Phe)
|
|
|
NM_000628.5(IL10RB):c.383A>T (p.His128Leu)
|
|
|
NM_000628.5(IL10RB):c.386T>G (p.Met129Arg)
|
rs759321517
|
|
NM_000628.5(IL10RB):c.435G>A (p.Met145Ile)
|
|
|
NM_000628.5(IL10RB):c.466G>A (p.Val156Met)
|
|
|
NM_000628.5(IL10RB):c.498G>A (p.Lys166=)
|
|
|
NM_000628.5(IL10RB):c.498G>C (p.Lys166Asn)
|
rs1989249790
|
|
NM_000628.5(IL10RB):c.511C>A (p.Pro171Thr)
|
rs752902509
|
|
NM_000628.5(IL10RB):c.511C>T (p.Pro171Ser)
|
|
|
NM_000628.5(IL10RB):c.537A>C (p.Arg179Ser)
|
rs1989309241
|
|
NM_000628.5(IL10RB):c.568C>G (p.Gln190Glu)
|
|
|
NM_000628.5(IL10RB):c.584T>C (p.Leu195Pro)
|
|
|
NM_000628.5(IL10RB):c.598A>G (p.Lys200Glu)
|
|
|
NM_000628.5(IL10RB):c.5C>T (p.Ala2Val)
|
|
|
NM_000628.5(IL10RB):c.60G>A (p.Met20Ile)
|
|
|
NM_000628.5(IL10RB):c.612G>T (p.Trp204Cys)
|
|
|
NM_000628.5(IL10RB):c.641A>C (p.His214Pro)
|
rs949664612
|
|
NM_000628.5(IL10RB):c.647-3C>T
|
rs1989409135
|
|
NM_000628.5(IL10RB):c.651G>A (p.Thr217=)
|
|
|
NM_000628.5(IL10RB):c.652G>A (p.Val218Ile)
|
rs776085475
|
|
NM_000628.5(IL10RB):c.680T>A (p.Leu227His)
|
|
|
NM_000628.5(IL10RB):c.682A>T (p.Met228Leu)
|
rs376920653
|
|
NM_000628.5(IL10RB):c.691G>A (p.Val231Ile)
|
|
|
NM_000628.5(IL10RB):c.715C>A (p.Leu239Ile)
|
rs1601835501
|
|
NM_000628.5(IL10RB):c.727G>A (p.Ala243Thr)
|
rs1058861
|
|
NM_000628.5(IL10RB):c.738G>T (p.Trp246Cys)
|
rs368740217
|
|
NM_000628.5(IL10RB):c.785T>G (p.Leu262Arg)
|
rs1989413733
|
|
NM_000628.5(IL10RB):c.787C>G (p.Pro263Ala)
|
|
|
NM_000628.5(IL10RB):c.791A>G (p.Gln264Arg)
|
|
|
NM_000628.5(IL10RB):c.79G>C (p.Val27Leu)
|
rs1989013782
|
|
NM_000628.5(IL10RB):c.800_801del (p.Lys267fs)
|
rs1989414348
|
|
NM_000628.5(IL10RB):c.823C>T (p.His275Tyr)
|
|
|
NM_000628.5(IL10RB):c.830C>T (p.Thr277Ile)
|
rs756566292
|
|
NM_000628.5(IL10RB):c.832del (p.Leu278fs)
|
rs1601839547
|
|
NM_000628.5(IL10RB):c.833T>C (p.Leu278Pro)
|
|
|
NM_000628.5(IL10RB):c.833T>G (p.Leu278Arg)
|
rs781553501
|
|
NM_000628.5(IL10RB):c.839T>C (p.Phe280Ser)
|
rs2082965278
|
|
NM_000628.5(IL10RB):c.841T>G (p.Phe281Val)
|
rs2082965287
|
|
NM_000628.5(IL10RB):c.857C>T (p.Ser286Leu)
|
rs771890796
|
|
NM_000628.5(IL10RB):c.85A>G (p.Met29Val)
|
rs975065416
|
|
NM_000628.5(IL10RB):c.862G>A (p.Glu288Lys)
|
rs2082965441
|
|
NM_000628.5(IL10RB):c.863A>T (p.Glu288Val)
|
|
|
NM_000628.5(IL10RB):c.871G>A (p.Val291Ile)
|
rs2082965493
|
|
NM_000628.5(IL10RB):c.917A>G (p.Lys306Arg)
|
rs2082965718
|
|
NM_000628.5(IL10RB):c.91T>A (p.Ser31Thr)
|
rs1989013997
|
|
NM_000628.5(IL10RB):c.933C>A (p.Asp311Glu)
|
rs2082965805
|
|
NM_000628.5(IL10RB):c.949A>T (p.Thr317Ser)
|
rs1601839637
|
|
NM_000628.5(IL10RB):c.962_967del (p.Gln321_Gly322del)
|
rs2082965983
|
|
NM_000628.5(IL10RB):c.970C>T (p.Gln324Ter)
|
rs2082966126
|
|
NM_000628.5(IL10RB):c.971A>G (p.Gln324Arg)
|
|
|
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser)
|
rs1603462691
|
|
NM_000791.4(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCCA
|
rs70991108
|
|
NM_000802.3(FOLR1):c.-20G>A
|
rs2071010
|
|
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)
|
rs2115160662
|
|
NM_000936.4(PNLIP):c.686A>G (p.Asn229Ser)
|
|
|
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr)
|
rs1453731006
|
|
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu)
|
rs190300523
|
|
NM_001018057.2(DKK3):c.647C>T (p.Pro216Leu)
|
rs371921208
|
|
NM_001023.4(RPS20):c.133G>A (p.Glu45Lys)
|
|
|
NM_001023.4(RPS20):c.163C>G (p.Arg55Gly)
|
|
|
NM_001023.4(RPS20):c.29C>T (p.Pro10Leu)
|
|
|
NM_001023.4(RPS20):c.5C>G (p.Ala2Gly)
|
|
|
NM_001023.4(RPS20):c.5C>T (p.Ala2Val)
|
rs753426252
|
|
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser)
|
rs1582614694
|
|
NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp)
|
rs1328506002
|
|
NM_001040108.1(MLH3):c.-202A>C
|
rs886050784
|
|
NM_001040108.1(MLH3):c.-208G>A
|
rs886050785
|
|
NM_001040108.2(MLH3):c.*1381T>C
|
rs1889846337
|
|
NM_001040108.2(MLH3):c.*1452G>T
|
rs886050771
|
|
NM_001040108.2(MLH3):c.*1566G>A
|
rs1555386072
|
|
NM_001040108.2(MLH3):c.*1628G>A
|
rs571716035
|
|
NM_001040108.2(MLH3):c.*1674T>C
|
rs1889836174
|
|
NM_001040108.2(MLH3):c.*1701del
|
rs886050770
|
|
NM_001040108.2(MLH3):c.*187T>C
|
rs1889916394
|
|
NM_001040108.2(MLH3):c.*2058G>T
|
rs190537801
|
|
NM_001040108.2(MLH3):c.*2086C>T
|
rs886050768
|
|
NM_001040108.2(MLH3):c.*2398C>A
|
rs1889806410
|
|
NM_001040108.2(MLH3):c.*2470C>T
|
rs1889802435
|
|
NM_001040108.2(MLH3):c.*2495C>T
|
rs1889801175
|
|
NM_001040108.2(MLH3):c.*3047G>T
|
rs1033159745
|
|
NM_001040108.2(MLH3):c.*3048del
|
rs886050767
|
|
NM_001040108.2(MLH3):c.*3094C>T
|
rs1243766498
|
|
NM_001040108.2(MLH3):c.*3140C>G
|
rs77514025
|
|
NM_001040108.2(MLH3):c.*541A>G
|
rs1889895952
|
|
NM_001040108.2(MLH3):c.*563A>G
|
rs765593107
|
|
NM_001040108.2(MLH3):c.*744A>G
|
rs886050774
|
|
NM_001040108.2(MLH3):c.*755T>C
|
rs1889885062
|
|
NM_001040108.2(MLH3):c.*797dup
|
rs886050773
|
|
NM_001040108.2(MLH3):c.*884C>G
|
rs1889877324
|
|
NM_001040108.2(MLH3):c.*957_*958delinsAT
|
rs386778871
|
|
NM_001040108.2(MLH3):c.-120G>A
|
rs886050782
|
|
NM_001040108.2(MLH3):c.-27G>A
|
rs886050780
|
|
NM_001040108.2(MLH3):c.-63-10dup
|
rs886050781
|
|
NM_001040108.2(MLH3):c.1018A>G (p.Ile340Val)
|
|
|
NM_001040108.2(MLH3):c.1018A>T (p.Ile340Phe)
|
rs769417120
|
|
NM_001040108.2(MLH3):c.1019T>C (p.Ile340Thr)
|
|
|
NM_001040108.2(MLH3):c.1021del (p.Gln341fs)
|
|
|
NM_001040108.2(MLH3):c.1030G>C (p.Val344Leu)
|
rs758958422
|
|
NM_001040108.2(MLH3):c.1067A>C (p.Glu356Ala)
|
|
|
NM_001040108.2(MLH3):c.1076G>A (p.Gly359Asp)
|
|
|
NM_001040108.2(MLH3):c.1083T>G (p.Asp361Glu)
|
|
|
NM_001040108.2(MLH3):c.1108G>T (p.Gly370Cys)
|
|
|
NM_001040108.2(MLH3):c.110A>G (p.Glu37Gly)
|
|
|
NM_001040108.2(MLH3):c.1141C>T (p.Arg381Cys)
|
rs764089461
|
|
NM_001040108.2(MLH3):c.1144G>T (p.Val382Leu)
|
rs558393444
|
|
NM_001040108.2(MLH3):c.1153G>A (p.Asp385Asn)
|
rs201389281
|
|
NM_001040108.2(MLH3):c.1155T>A (p.Asp385Glu)
|
rs766153014
|
|
NM_001040108.2(MLH3):c.1159A>T (p.Arg387Trp)
|
rs1259512716
|
|
NM_001040108.2(MLH3):c.1159_1160dup (p.Ser388fs)
|
|
|
NM_001040108.2(MLH3):c.1162A>G (p.Ser388Gly)
|
rs1892425627
|
|
NM_001040108.2(MLH3):c.1181G>A (p.Cys394Tyr)
|
rs1892424087
|
|
NM_001040108.2(MLH3):c.1208T>C (p.Met403Thr)
|
rs1594781410
|
|
NM_001040108.2(MLH3):c.1223C>A (p.Ser408Ter)
|
rs745988563
|
|
NM_001040108.2(MLH3):c.1223C>T (p.Ser408Leu)
|
rs745988563
|
|
NM_001040108.2(MLH3):c.1229C>G (p.Ala410Gly)
|
rs930453949
|
|
NM_001040108.2(MLH3):c.1238_1256del (p.Arg413fs)
|
|
|
NM_001040108.2(MLH3):c.1239A>C (p.Arg413Ser)
|
|
|
NM_001040108.2(MLH3):c.1249G>T (p.Ala417Ser)
|
rs1892420067
|
|
NM_001040108.2(MLH3):c.1253A>G (p.Glu418Gly)
|
rs916665768
|
|
NM_001040108.2(MLH3):c.1256A>C (p.Asn419Thr)
|
rs1892418940
|
|
NM_001040108.2(MLH3):c.1267_1268del (p.Gln423fs)
|
rs1892416579
|
|
NM_001040108.2(MLH3):c.127G>A (p.Val43Ile)
|
rs554073121
|
|
NM_001040108.2(MLH3):c.1301dup (p.Asn434fs)
|
rs1212794587
|
|
NM_001040108.2(MLH3):c.1313C>A (p.Ala438Glu)
|
|
|
NM_001040108.2(MLH3):c.1313C>T (p.Ala438Val)
|
|
|
NM_001040108.2(MLH3):c.1324A>G (p.Ile442Val)
|
rs1892412042
|
|
NM_001040108.2(MLH3):c.1325T>G (p.Ile442Ser)
|
rs2139585598
|
|
NM_001040108.2(MLH3):c.1328A>G (p.Tyr443Cys)
|
|
|
NM_001040108.2(MLH3):c.1330G>C (p.Glu444Gln)
|
|
|
NM_001040108.2(MLH3):c.1336G>A (p.Gly446Ser)
|
rs1892410798
|
|
NM_001040108.2(MLH3):c.1343C>T (p.Pro448Leu)
|
|
|
NM_001040108.2(MLH3):c.1352G>A (p.Ser451Asn)
|
rs1566607594
|
|
NM_001040108.2(MLH3):c.1352G>C (p.Ser451Thr)
|
rs1566607594
|
|
NM_001040108.2(MLH3):c.1362del (p.Glu455fs)
|
|
|
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)
|
rs138974583
|
|
NM_001040108.2(MLH3):c.1397C>A (p.Ser466Ter)
|
rs1594781006
|
|
NM_001040108.2(MLH3):c.1418A>G (p.Gln473Arg)
|
|
|
NM_001040108.2(MLH3):c.141G>A (p.Met47Ile)
|
|
|
NM_001040108.2(MLH3):c.1424C>A (p.Thr475Lys)
|
rs376219506
|
|
NM_001040108.2(MLH3):c.1426A>C (p.Ile476Leu)
|
|
|
NM_001040108.2(MLH3):c.1426A>T (p.Ile476Phe)
|
|
|
NM_001040108.2(MLH3):c.1436C>T (p.Ser479Leu)
|
rs1892400504
|
|
NM_001040108.2(MLH3):c.1453G>C (p.Glu485Gln)
|
|
|
NM_001040108.2(MLH3):c.1467dup (p.Ser490fs)
|
rs1555345796
|
|
NM_001040108.2(MLH3):c.1468T>C (p.Ser490Pro)
|
rs759885152
|
|
NM_001040108.2(MLH3):c.1474C>G (p.Leu492Val)
|
rs28756983
|
|
NM_001040108.2(MLH3):c.1480C>T (p.His494Tyr)
|
rs2139582511
|
|
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg)
|
rs760778201
|
|
NM_001040108.2(MLH3):c.1483A>G (p.Ser495Gly)
|
|
|
NM_001040108.2(MLH3):c.1484G>T (p.Ser495Ile)
|
|
|
NM_001040108.2(MLH3):c.1493A>G (p.Glu498Gly)
|
rs1892394467
|
|
NM_001040108.2(MLH3):c.1496A>G (p.Asn499Ser)
|
rs28937871
|
|
NM_001040108.2(MLH3):c.1499C>T (p.Pro500Leu)
|
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040108.2(MLH3):c.1521G>A (p.Met507Ile)
|
rs756756799
|
|
NM_001040108.2(MLH3):c.1523T>A (p.Phe508Tyr)
|
rs2139581522
|
|
NM_001040108.2(MLH3):c.1530C>A (p.Ser510Arg)
|
|
|
NM_001040108.2(MLH3):c.1544C>T (p.Pro515Leu)
|
|
|
NM_001040108.2(MLH3):c.1544del (p.Pro515fs)
|
|
|
NM_001040108.2(MLH3):c.1549C>G (p.His517Asp)
|
|
|
NM_001040108.2(MLH3):c.1549C>T (p.His517Tyr)
|
rs2139580991
|
|
NM_001040108.2(MLH3):c.1552T>G (p.Phe518Val)
|
|
|
NM_001040108.2(MLH3):c.1564G>A (p.Gly522Arg)
|
rs1594780631
|
|
NM_001040108.2(MLH3):c.1567C>A (p.Gln523Lys)
|
rs759903303
|
|
NM_001040108.2(MLH3):c.1581A>G (p.Ile527Met)
|
rs1892386824
|
|
NM_001040108.2(MLH3):c.1584G>T (p.Trp528Cys)
|
|
|
NM_001040108.2(MLH3):c.1589A>G (p.Glu530Gly)
|
rs2139580147
|
|
NM_001040108.2(MLH3):c.1592G>A (p.Ser531Asn)
|
|
|
NM_001040108.2(MLH3):c.1595C>G (p.Thr532Ser)
|
rs1892385402
|
|
NM_001040108.2(MLH3):c.1600G>A (p.Val534Ile)
|
rs772109972
|
|
NM_001040108.2(MLH3):c.1604A>G (p.Asn535Ser)
|
|
|
NM_001040108.2(MLH3):c.1606G>A (p.Gly536Ser)
|
rs1367614553
|
|
NM_001040108.2(MLH3):c.1618A>T (p.Asn540Tyr)
|
|
|
NM_001040108.2(MLH3):c.1622T>C (p.Ile541Thr)
|
rs1594780468
|
|
NM_001040108.2(MLH3):c.1659A>T (p.Arg553Ser)
|
rs2139578919
|
|
NM_001040108.2(MLH3):c.1670C>T (p.Ala557Val)
|
|
|
NM_001040108.2(MLH3):c.1676A>C (p.Glu559Ala)
|
|
|
NM_001040108.2(MLH3):c.167A>G (p.Asp56Gly)
|
|
|
NM_001040108.2(MLH3):c.1697C>A (p.Pro566His)
|
|
|
NM_001040108.2(MLH3):c.1702G>A (p.Ala568Thr)
|
|
|
NM_001040108.2(MLH3):c.1705A>G (p.Thr569Ala)
|
rs1169722825
|
|
NM_001040108.2(MLH3):c.1706C>T (p.Thr569Ile)
|
|
|
NM_001040108.2(MLH3):c.170A>G (p.Asn57Ser)
|
|
|
NM_001040108.2(MLH3):c.1735A>T (p.Thr579Ser)
|
|
|
NM_001040108.2(MLH3):c.1754A>G (p.Lys585Arg)
|
rs1398064873
|
|
NM_001040108.2(MLH3):c.1755dup (p.Glu586fs)
|
rs751465048
|
|
NM_001040108.2(MLH3):c.1770T>A (p.Cys590Ter)
|
rs769773711
|
|
NM_001040108.2(MLH3):c.1778G>A (p.Arg593Lys)
|
rs1892366400
|
|
NM_001040108.2(MLH3):c.1779A>T (p.Arg593Ser)
|
rs1060503069
|
|
NM_001040108.2(MLH3):c.1780A>G (p.Asn594Asp)
|
|
|
NM_001040108.2(MLH3):c.1781A>G (p.Asn594Ser)
|
rs1183390548
|
|
NM_001040108.2(MLH3):c.1789A>G (p.Ser597Gly)
|
rs1237005593
|
|
NM_001040108.2(MLH3):c.178G>A (p.Gly60Arg)
|
|
|
NM_001040108.2(MLH3):c.1790G>T (p.Ser597Ile)
|
rs1892364678
|
|
NM_001040108.2(MLH3):c.1792_1794del (p.Tyr598del)
|
rs758459734
|
|
NM_001040108.2(MLH3):c.1801G>A (p.Val601Ile)
|
rs1555345589
|
|
NM_001040108.2(MLH3):c.1814C>G (p.Ser605Cys)
|
rs1892361991
|
|
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe)
|
rs1892361991
|
|
NM_001040108.2(MLH3):c.1825A>C (p.Ile609Leu)
|
rs61755654
|
|
NM_001040108.2(MLH3):c.1825A>G (p.Ile609Val)
|
rs61755654
|
|
NM_001040108.2(MLH3):c.1831C>A (p.His611Asn)
|
|
|
NM_001040108.2(MLH3):c.1855A>G (p.Lys619Glu)
|
rs1555345545
|
|
NM_001040108.2(MLH3):c.1856A>T (p.Lys619Ile)
|
|
|
NM_001040108.2(MLH3):c.1858T>G (p.Ser620Ala)
|
rs878854162
|
|
NM_001040108.2(MLH3):c.1861A>T (p.Thr621Ser)
|
|
|
NM_001040108.2(MLH3):c.1877C>G (p.Ser626Ter)
|
|
|
NM_001040108.2(MLH3):c.1877C>T (p.Ser626Leu)
|
rs370383198
|
|
NM_001040108.2(MLH3):c.1879T>C (p.Phe627Leu)
|
rs765493144
|
|
NM_001040108.2(MLH3):c.1888T>G (p.Tyr630Asp)
|
|
|
NM_001040108.2(MLH3):c.1918G>C (p.Glu640Gln)
|
rs1892352182
|
|
NM_001040108.2(MLH3):c.1928G>A (p.Gly643Glu)
|
rs1892351339
|
|
NM_001040108.2(MLH3):c.1937C>G (p.Thr646Arg)
|
|
|
NM_001040108.2(MLH3):c.193G>C (p.Asp65His)
|
|
|
NM_001040108.2(MLH3):c.196G>A (p.Val66Ile)
|
rs2139611483
|
|
NM_001040108.2(MLH3):c.1976C>T (p.Ala659Val)
|
|
|
NM_001040108.2(MLH3):c.1981A>T (p.Thr661Ser)
|
|
|
NM_001040108.2(MLH3):c.1982C>T (p.Thr661Ile)
|
rs1892346320
|
|
NM_001040108.2(MLH3):c.1988_1991del (p.Ser663fs)
|
rs775792922
|
|
NM_001040108.2(MLH3):c.1A>G (p.Met1Val)
|
|
|
NM_001040108.2(MLH3):c.2021dup (p.Asn674fs)
|
rs767782578
|
|
NM_001040108.2(MLH3):c.2022T>A (p.Asn674Lys)
|
rs544782025
|
|
NM_001040108.2(MLH3):c.2045G>A (p.Gly682Glu)
|
|
|
NM_001040108.2(MLH3):c.2069C>T (p.Thr690Ile)
|
rs747315256
|
|
NM_001040108.2(MLH3):c.206T>C (p.Val69Ala)
|
rs886050779
|
|
NM_001040108.2(MLH3):c.2098G>T (p.Gly700Cys)
|
rs760523617
|
|
NM_001040108.2(MLH3):c.2125A>G (p.Ile709Val)
|
|
|
NM_001040108.2(MLH3):c.2126T>G (p.Ile709Arg)
|
|
|
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=)
|
rs1892333159
|
|
NM_001040108.2(MLH3):c.2131T>C (p.Ser711Pro)
|
|
|
NM_001040108.2(MLH3):c.2143C>T (p.Pro715Ser)
|
|
|
NM_001040108.2(MLH3):c.214C>G (p.Arg72Gly)
|
|
|
NM_001040108.2(MLH3):c.2152C>T (p.Pro718Ser)
|
|
|
NM_001040108.2(MLH3):c.2154dup (p.Trp719fs)
|
|
|
NM_001040108.2(MLH3):c.2157G>A (p.Trp719Ter)
|
rs1566605241
|
|
NM_001040108.2(MLH3):c.215G>A (p.Arg72His)
|
|
|
NM_001040108.2(MLH3):c.2160T>G (p.Tyr720Ter)
|
rs1892328710
|
|
NM_001040108.2(MLH3):c.2161A>G (p.Arg721Gly)
|
|
|
NM_001040108.2(MLH3):c.2162G>A (p.Arg721Lys)
|
rs2139568252
|
|
NM_001040108.2(MLH3):c.2164C>T (p.His722Tyr)
|
|
|
NM_001040108.2(MLH3):c.2168T>C (p.Val723Ala)
|
rs2139568094
|
|
NM_001040108.2(MLH3):c.2175T>A (p.Asn725Lys)
|
rs1892326829
|
|
NM_001040108.2(MLH3):c.2177A>G (p.Asp726Gly)
|
|
|
NM_001040108.2(MLH3):c.2189C>T (p.Thr730Ile)
|
rs1892325359
|
|
NM_001040108.2(MLH3):c.2208C>A (p.Phe736Leu)
|
|
|
NM_001040108.2(MLH3):c.2210C>G (p.Ser737Cys)
|
rs2139567278
|
|
NM_001040108.2(MLH3):c.2216C>T (p.Pro739Leu)
|
rs757038362
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
NM_001040108.2(MLH3):c.2224C>G (p.Arg742Gly)
|
|
|
NM_001040108.2(MLH3):c.2254G>A (p.Gly752Arg)
|
rs906500178
|
|
NM_001040108.2(MLH3):c.2266A>C (p.Lys756Gln)
|
|
|
NM_001040108.2(MLH3):c.2280A>G (p.Gln760=)
|
rs1892316286
|
|
NM_001040108.2(MLH3):c.2284G>A (p.Gly762Arg)
|
rs1394752072
|
|
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
|
|
|
NM_001040108.2(MLH3):c.2313A>T (p.Glu771Asp)
|
|
|
NM_001040108.2(MLH3):c.2337dup (p.Thr780fs)
|
|
|
NM_001040108.2(MLH3):c.2345T>C (p.Leu782Pro)
|
rs1892311173
|
|
NM_001040108.2(MLH3):c.2347A>C (p.Ser783Arg)
|
|
|
NM_001040108.2(MLH3):c.236A>T (p.His79Leu)
|
rs753528013
|
|
NM_001040108.2(MLH3):c.2381A>G (p.Asp794Gly)
|
|
|
NM_001040108.2(MLH3):c.2383A>G (p.Lys795Glu)
|
|
|
NM_001040108.2(MLH3):c.2395G>C (p.Glu799Gln)
|
rs1892306512
|
|
NM_001040108.2(MLH3):c.239C>T (p.Ser80Leu)
|
|
|
NM_001040108.2(MLH3):c.2411G>A (p.Cys804Tyr)
|
rs2139563242
|
|
NM_001040108.2(MLH3):c.2413A>G (p.Lys805Glu)
|
|
|
NM_001040108.2(MLH3):c.2422A>G (p.Thr808Ala)
|
rs1892304501
|
|
NM_001040108.2(MLH3):c.242T>C (p.Val81Ala)
|
|
|
NM_001040108.2(MLH3):c.2432A>G (p.His811Arg)
|
rs1892303572
|
|
NM_001040108.2(MLH3):c.2444A>T (p.Asp815Val)
|
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001040108.2(MLH3):c.2487G>T (p.Lys829Asn)
|
|
|
NM_001040108.2(MLH3):c.2488T>C (p.Phe830Leu)
|
rs1892298729
|
|
NM_001040108.2(MLH3):c.2495T>C (p.Phe832Ser)
|
|
|
NM_001040108.2(MLH3):c.2496C>A (p.Phe832Leu)
|
|
|
NM_001040108.2(MLH3):c.2500A>G (p.Lys834Glu)
|
|
|
NM_001040108.2(MLH3):c.2503G>A (p.Asp835Asn)
|
rs766153131
|
|
NM_001040108.2(MLH3):c.2529G>A (p.Met843Ile)
|
|
|
NM_001040108.2(MLH3):c.2542_2543del (p.Glu848fs)
|
|
|
NM_001040108.2(MLH3):c.2543A>G (p.Glu848Gly)
|
|
|
NM_001040108.2(MLH3):c.2555C>T (p.Thr852Ile)
|
rs1594777802
|
|
NM_001040108.2(MLH3):c.2591dup (p.Leu864fs)
|
|
|
NM_001040108.2(MLH3):c.2596C>G (p.Leu866Val)
|
|
|
NM_001040108.2(MLH3):c.2600A>G (p.Glu867Gly)
|
rs1892287229
|
|
NM_001040108.2(MLH3):c.2602A>G (p.Lys868Glu)
|
|
|
NM_001040108.2(MLH3):c.260C>G (p.Pro87Arg)
|
|
|
NM_001040108.2(MLH3):c.260C>T (p.Pro87Leu)
|
|
|
NM_001040108.2(MLH3):c.2633C>G (p.Ser878Cys)
|
|
|
NM_001040108.2(MLH3):c.2636G>C (p.Arg879Thr)
|
|
|
NM_001040108.2(MLH3):c.2641A>C (p.Lys881Gln)
|
rs766431474
|
|
NM_001040108.2(MLH3):c.2644G>C (p.Gly882Arg)
|
|
|
NM_001040108.2(MLH3):c.2660C>T (p.Thr887Ile)
|
rs1595084498
|
|
NM_001040108.2(MLH3):c.2676G>C (p.Met892Ile)
|
|
|
NM_001040108.2(MLH3):c.2680A>G (p.Ser894Gly)
|
rs141067131
|
|
NM_001040108.2(MLH3):c.2683C>T (p.Arg895Cys)
|
|
|
NM_001040108.2(MLH3):c.2683del (p.Arg895fs)
|
|
|
NM_001040108.2(MLH3):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001040108.2(MLH3):c.2702A>G (p.Asn901Ser)
|
|
|
NM_001040108.2(MLH3):c.2710_2889del (p.Ser904_Cys963del)
|
rs1892262638
|
|
NM_001040108.2(MLH3):c.2713A>G (p.Ser905Gly)
|
rs1595084225
|
|
NM_001040108.2(MLH3):c.2717G>C (p.Arg906Thr)
|
|
|
NM_001040108.2(MLH3):c.2726G>C (p.Ser909Thr)
|
rs1349770908
|
|
NM_001040108.2(MLH3):c.2741T>A (p.Val914Glu)
|
|
|
NM_001040108.2(MLH3):c.2753A>G (p.Asp918Gly)
|
|
|
NM_001040108.2(MLH3):c.2758T>C (p.Cys920Arg)
|
|
|
NM_001040108.2(MLH3):c.2768T>G (p.Phe923Cys)
|
|
|
NM_001040108.2(MLH3):c.277C>T (p.Arg93Ter)
|
rs28756978
|
|
NM_001040108.2(MLH3):c.2785A>G (p.Lys929Glu)
|
rs2139555775
|
|
NM_001040108.2(MLH3):c.2793G>C (p.Glu931Asp)
|
|
|
NM_001040108.2(MLH3):c.2793_2794del (p.Asn932fs)
|
rs754716792
|
|
NM_001040108.2(MLH3):c.2795A>G (p.Asn932Ser)
|
|
|
NM_001040108.2(MLH3):c.2800G>A (p.Val934Ile)
|
|
|
NM_001040108.2(MLH3):c.281G>A (p.Gly94Glu)
|
rs759973402
|
|
NM_001040108.2(MLH3):c.2837C>T (p.Ser946Phe)
|
rs201441389
|
|
NM_001040108.2(MLH3):c.2842A>C (p.Asn948His)
|
rs1892266280
|
|
NM_001040108.2(MLH3):c.285G>C (p.Glu95Asp)
|
rs369067732
|
|
NM_001040108.2(MLH3):c.2870G>A (p.Ser957Asn)
|
|
|
NM_001040108.2(MLH3):c.2887T>C (p.Cys963Arg)
|
|
|
NM_001040108.2(MLH3):c.2887T>G (p.Cys963Gly)
|
rs1892263113
|
|
NM_001040108.2(MLH3):c.2888G>C (p.Cys963Ser)
|
|
|
NM_001040108.2(MLH3):c.2890G>A (p.Val964Met)
|
|
|
NM_001040108.2(MLH3):c.2896T>A (p.Ser966Thr)
|
|
|
NM_001040108.2(MLH3):c.2902del (p.Thr968fs)
|
rs780017030
|
|
NM_001040108.2(MLH3):c.2911G>C (p.Val971Leu)
|
rs41555714
|
|
NM_001040108.2(MLH3):c.2923A>G (p.Asn975Asp)
|
|
|
NM_001040108.2(MLH3):c.2929T>G (p.Ser977Ala)
|
rs747777498
|
|
NM_001040108.2(MLH3):c.2937del (p.Thr980fs)
|
rs758226404
|
|
NM_001040108.2(MLH3):c.2953G>A (p.Asp985Asn)
|
rs1566602747
|
|
NM_001040108.2(MLH3):c.2954A>C (p.Asp985Ala)
|
rs761266398
|
|
NM_001040108.2(MLH3):c.2956G>A (p.Val986Ile)
|
rs1892251952
|
|
NM_001040108.2(MLH3):c.2962A>G (p.Ile988Val)
|
|
|
NM_001040108.2(MLH3):c.2984T>C (p.Ile995Thr)
|
|
|
NM_001040108.2(MLH3):c.2986G>A (p.Gly996Arg)
|
|
|
NM_001040108.2(MLH3):c.2987G>A (p.Gly996Glu)
|
rs886050775
|
|
NM_001040108.2(MLH3):c.2989A>C (p.Ser997Arg)
|
rs2139550718
|
|
NM_001040108.2(MLH3):c.3022C>G (p.Pro1008Ala)
|
rs2139550006
|
|
NM_001040108.2(MLH3):c.3023C>T (p.Pro1008Leu)
|
|
|
NM_001040108.2(MLH3):c.3029A>G (p.Glu1010Gly)
|
rs1555344919
|
|
NM_001040108.2(MLH3):c.3035C>T (p.Ala1012Val)
|
|
|
NM_001040108.2(MLH3):c.3047A>T (p.Gln1016Leu)
|
|
|
NM_001040108.2(MLH3):c.304G>A (p.Asp102Asn)
|
|
|
NM_001040108.2(MLH3):c.3052G>A (p.Gly1018Arg)
|
|
|
NM_001040108.2(MLH3):c.3053G>T (p.Gly1018Val)
|
|
|
NM_001040108.2(MLH3):c.305A>G (p.Asp102Gly)
|
|
|
NM_001040108.2(MLH3):c.3065del (p.Gln1022fs)
|
rs1566602423
|
|
NM_001040108.2(MLH3):c.3068G>A (p.Ser1023Asn)
|
rs1480199553
|
|
NM_001040108.2(MLH3):c.3106G>C (p.Glu1036Gln)
|
rs1555344886
|
|
NM_001040108.2(MLH3):c.3113dup (p.Asn1038fs)
|
|
|
NM_001040108.2(MLH3):c.3116C>T (p.Thr1039Met)
|
|
|
NM_001040108.2(MLH3):c.3132G>A (p.Trp1044Ter)
|
|
|
NM_001040108.2(MLH3):c.3148G>A (p.Val1050Ile)
|
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
NM_001040108.2(MLH3):c.3164T>C (p.Met1055Thr)
|
rs1026561200
|
|
NM_001040108.2(MLH3):c.3164T>G (p.Met1055Arg)
|
rs1026561200
|
|
NM_001040108.2(MLH3):c.3173T>G (p.Val1058Gly)
|
|
|
NM_001040108.2(MLH3):c.3194G>A (p.Ser1065Asn)
|
rs1355183567
|
|
NM_001040108.2(MLH3):c.31G>A (p.Ala11Thr)
|
rs2139615082
|
|
NM_001040108.2(MLH3):c.3211A>G (p.Thr1071Ala)
|
rs1595082664
|
|
NM_001040108.2(MLH3):c.3220A>T (p.Ile1074Phe)
|
|
|
NM_001040108.2(MLH3):c.3226G>A (p.Ala1076Thr)
|
|
|
NM_001040108.2(MLH3):c.3226G>C (p.Ala1076Pro)
|
|
|
NM_001040108.2(MLH3):c.3230C>T (p.Ala1077Val)
|
|
|
NM_001040108.2(MLH3):c.3238A>C (p.Lys1080Gln)
|
rs747582919
|
|
NM_001040108.2(MLH3):c.3238A>G (p.Lys1080Glu)
|
|
|
NM_001040108.2(MLH3):c.3254T>C (p.Val1085Ala)
|
rs1204014345
|
|
NM_001040108.2(MLH3):c.3274G>A (p.Glu1092Lys)
|
|
|
NM_001040108.2(MLH3):c.3280+4A>G
|
rs755203976
|
|
NM_001040108.2(MLH3):c.3292A>G (p.Arg1098Gly)
|
|
|
NM_001040108.2(MLH3):c.3292del (p.Arg1098fs)
|
|
|
NM_001040108.2(MLH3):c.3294G>C (p.Arg1098Ser)
|
|
|
NM_001040108.2(MLH3):c.3294G>T (p.Arg1098Ser)
|
rs1060503068
|
|
NM_001040108.2(MLH3):c.3302C>A (p.Pro1101His)
|
|
|
NM_001040108.2(MLH3):c.3310A>C (p.Ser1104Arg)
|
rs1595075344
|
|
NM_001040108.2(MLH3):c.3316C>T (p.Leu1106Phe)
|
|
|
NM_001040108.2(MLH3):c.3344G>C (p.Arg1115Pro)
|
|
|
NM_001040108.2(MLH3):c.3347C>G (p.Ala1116Gly)
|
|
|
NM_001040108.2(MLH3):c.3355A>G (p.Thr1119Ala)
|
|
|
NM_001040108.2(MLH3):c.3358G>A (p.Val1120Met)
|
|
|
NM_001040108.2(MLH3):c.3359_3360del (p.Val1120fs)
|
rs763171207
|
|
NM_001040108.2(MLH3):c.3368A>C (p.Gln1123Pro)
|
|
|
NM_001040108.2(MLH3):c.3374A>G (p.Asn1125Ser)
|
rs2139504673
|
|
NM_001040108.2(MLH3):c.3377G>C (p.Arg1126Thr)
|
|
|
NM_001040108.2(MLH3):c.3379+4A>C
|
rs1309915500
|
|
NM_001040108.2(MLH3):c.3379+4A>G
|
|
|
NM_001040108.2(MLH3):c.3379G>T (p.Asp1127Tyr)
|
rs1891914283
|
|
NM_001040108.2(MLH3):c.3381T>A (p.Asp1127Glu)
|
|
|
NM_001040108.2(MLH3):c.3389A>G (p.Asp1130Gly)
|
rs1891868618
|
|
NM_001040108.2(MLH3):c.3400A>G (p.Ser1134Gly)
|
|
|
NM_001040108.2(MLH3):c.3404G>A (p.Ser1135Asn)
|
rs1595073793
|
|
NM_001040108.2(MLH3):c.3405C>A (p.Ser1135Arg)
|
|
|
NM_001040108.2(MLH3):c.3405_3406delinsTC (p.Glu1136Gln)
|
|
|
NM_001040108.2(MLH3):c.3410C>T (p.Ser1137Leu)
|
rs781462940
|
|
NM_001040108.2(MLH3):c.3413T>C (p.Leu1138Pro)
|
rs1566596824
|
|
NM_001040108.2(MLH3):c.3428C>G (p.Ser1143Ter)
|
rs1891864615
|
|
NM_001040108.2(MLH3):c.3451G>C (p.Ala1151Pro)
|
rs1891862567
|
|
NM_001040108.2(MLH3):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_001040108.2(MLH3):c.3452C>T (p.Ala1151Val)
|
rs1555344011
|
|
NM_001040108.2(MLH3):c.3454C>T (p.Arg1152Cys)
|
|
|
NM_001040108.2(MLH3):c.3465+14A>G
|
rs775972214
|
|
NM_001040108.2(MLH3):c.3465+3G>A
|
|
|
NM_001040108.2(MLH3):c.3465+4G>T
|
|
|
NM_001040108.2(MLH3):c.3466-2A>G
|
|
|
NM_001040108.2(MLH3):c.3475G>C (p.Asp1159His)
|
rs755836944
|
|
NM_001040108.2(MLH3):c.3478G>A (p.Val1160Ile)
|
|
|
NM_001040108.2(MLH3):c.349A>G (p.Met117Val)
|
|
|
NM_001040108.2(MLH3):c.34A>G (p.Lys12Glu)
|
rs1892532750
|
|
NM_001040108.2(MLH3):c.3503T>C (p.Leu1168Ser)
|
|
|
NM_001040108.2(MLH3):c.3508G>A (p.Val1170Ile)
|
rs2139474091
|
|
NM_001040108.2(MLH3):c.3518ACA[1] (p.Asn1174del)
|
rs2139473855
|
|
NM_001040108.2(MLH3):c.3531T>A (p.Tyr1177Ter)
|
rs2139473674
|
|
NM_001040108.2(MLH3):c.3533C>T (p.Pro1178Leu)
|
|
|
NM_001040108.2(MLH3):c.3536A>G (p.Tyr1179Cys)
|
rs1891720886
|
|
NM_001040108.2(MLH3):c.3538C>G (p.Arg1180Gly)
|
rs761024324
|
|
NM_001040108.2(MLH3):c.3548A>G (p.Lys1183Arg)
|
|
|
NM_001040108.2(MLH3):c.3551G>A (p.Gly1184Glu)
|
|
|
NM_001040108.2(MLH3):c.3554T>A (p.Met1185Lys)
|
|
|
NM_001040108.2(MLH3):c.356C>T (p.Thr119Ile)
|
rs2139607474
|
|
NM_001040108.2(MLH3):c.3571-1G>T
|
|
|
NM_001040108.2(MLH3):c.3578A>G (p.Gln1193Arg)
|
rs1891571171
|
|
NM_001040108.2(MLH3):c.3583G>A (p.Val1195Ile)
|
rs1891570676
|
|
NM_001040108.2(MLH3):c.3584T>C (p.Val1195Ala)
|
|
|
NM_001040108.2(MLH3):c.3584T>G (p.Val1195Gly)
|
|
|
NM_001040108.2(MLH3):c.3589A>C (p.Asn1197His)
|
|
|
NM_001040108.2(MLH3):c.3608T>C (p.Leu1203Ser)
|
rs761468610
|
|
NM_001040108.2(MLH3):c.3616A>G (p.Thr1206Ala)
|
|
|
NM_001040108.2(MLH3):c.3640G>A (p.Ala1214Thr)
|
rs2139454669
|
|
NM_001040108.2(MLH3):c.3643+5G>A
|
rs2139454564
|
|
NM_001040108.2(MLH3):c.3648G>T (p.Gly1216=)
|
|
|
NM_001040108.2(MLH3):c.3653T>A (p.Leu1218Gln)
|
rs1208714560
|
|
NM_001040108.2(MLH3):c.3664G>A (p.Val1222Met)
|
|
|
NM_001040108.2(MLH3):c.3695G>A (p.Arg1232His)
|
|
|
NM_001040108.2(MLH3):c.3712A>G (p.Ile1238Val)
|
rs2139412376
|
|
NM_001040108.2(MLH3):c.3713T>C (p.Ile1238Thr)
|
|
|
NM_001040108.2(MLH3):c.3715+1G>A
|
rs1595056532
|
|
NM_001040108.2(MLH3):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_001040108.2(MLH3):c.3725A>G (p.Glu1242Gly)
|
|
|
NM_001040108.2(MLH3):c.3740A>T (p.Gln1247Leu)
|
rs909033868
|
|
NM_001040108.2(MLH3):c.3749G>A (p.Gly1250Asp)
|
rs931917554
|
|
NM_001040108.2(MLH3):c.3770C>G (p.Ser1257Cys)
|
rs2139401367
|
|
NM_001040108.2(MLH3):c.3772A>G (p.Thr1258Ala)
|
|
|
NM_001040108.2(MLH3):c.3775C>A (p.Leu1259Ile)
|
|
|
NM_001040108.2(MLH3):c.3775C>G (p.Leu1259Val)
|
|
|
NM_001040108.2(MLH3):c.3781C>T (p.Pro1261Ser)
|
rs1891088976
|
|
NM_001040108.2(MLH3):c.3785C>T (p.Pro1262Leu)
|
|
|
NM_001040108.2(MLH3):c.3790G>A (p.Glu1264Lys)
|
rs760000437
|
|
NM_001040108.2(MLH3):c.3799G>A (p.Val1267Met)
|
rs1019973266
|
|
NM_001040108.2(MLH3):c.3803C>A (p.Thr1268Lys)
|
|
|
NM_001040108.2(MLH3):c.3803C>G (p.Thr1268Arg)
|
|
|
NM_001040108.2(MLH3):c.3827+1G>C
|
|
|
NM_001040108.2(MLH3):c.3827+20T>G
|
|
|
NM_001040108.2(MLH3):c.3828-7T>A
|
|
|
NM_001040108.2(MLH3):c.3830G>C (p.Cys1277Ser)
|
|
|
NM_001040108.2(MLH3):c.3840A>C (p.Lys1280Asn)
|
rs918215098
|
|
NM_001040108.2(MLH3):c.3841A>G (p.Asn1281Asp)
|
|
|
NM_001040108.2(MLH3):c.3863A>C (p.Glu1288Ala)
|
|
|
NM_001040108.2(MLH3):c.3890C>A (p.Ser1297Tyr)
|
|
|
NM_001040108.2(MLH3):c.3893_3894insAGAG (p.Val1299fs)
|
|
|
NM_001040108.2(MLH3):c.3898C>G (p.Leu1300Val)
|
rs2139385883
|
|
NM_001040108.2(MLH3):c.3901G>A (p.Val1301Met)
|
|
|
NM_001040108.2(MLH3):c.3903G>A (p.Val1301=)
|
|
|
NM_001040108.2(MLH3):c.3904G>A (p.Gly1302Arg)
|
|
|
NM_001040108.2(MLH3):c.3922_3926del (p.Phe1308fs)
|
|
|
NM_001040108.2(MLH3):c.3928G>C (p.Glu1310Gln)
|
rs1595050855
|
|
NM_001040108.2(MLH3):c.3935A>C (p.Glu1312Ala)
|
rs1890982249
|
|
NM_001040108.2(MLH3):c.3943G>A (p.Glu1315Lys)
|
|
|
NM_001040108.2(MLH3):c.3949C>T (p.Arg1317Trp)
|
|
|
NM_001040108.2(MLH3):c.3959G>T (p.Arg1320Ile)
|
|
|
NM_001040108.2(MLH3):c.397T>G (p.Cys133Gly)
|
rs1555346244
|
|
NM_001040108.2(MLH3):c.3983T>C (p.Val1328Ala)
|
rs1890975310
|
|
NM_001040108.2(MLH3):c.3988G>A (p.Glu1330Lys)
|
rs1890393091
|
|
NM_001040108.2(MLH3):c.3997del (p.Arg1333fs)
|
|
|
NM_001040108.2(MLH3):c.3998G>A (p.Arg1333Gln)
|
|
|
NM_001040108.2(MLH3):c.4001A>G (p.Glu1334Gly)
|
rs1555387525
|
|
NM_001040108.2(MLH3):c.4005A>T (p.Gln1335His)
|
|
|
NM_001040108.2(MLH3):c.4009G>A (p.Glu1337Lys)
|
rs1595034312
|
|
NM_001040108.2(MLH3):c.4042A>G (p.Thr1348Ala)
|
rs1890379975
|
|
NM_001040108.2(MLH3):c.4063A>G (p.Lys1355Glu)
|
|
|
NM_001040108.2(MLH3):c.4088A>G (p.His1363Arg)
|
|
|
NM_001040108.2(MLH3):c.4090+2T>C
|
rs1890375980
|
|
NM_001040108.2(MLH3):c.4091-2A>C
|
rs906969002
|
|
NM_001040108.2(MLH3):c.4117A>C (p.Ser1373Arg)
|
|
|
NM_001040108.2(MLH3):c.412A>G (p.Thr138Ala)
|
|
|
NM_001040108.2(MLH3):c.4150C>G (p.Leu1384Val)
|
rs1025736417
|
|
NM_001040108.2(MLH3):c.4150_4151del (p.Leu1384fs)
|
rs1162704717
|
|
NM_001040108.2(MLH3):c.4163A>G (p.Gln1388Arg)
|
|
|
NM_001040108.2(MLH3):c.4163A>T (p.Gln1388Leu)
|
|
|
NM_001040108.2(MLH3):c.4175A>G (p.Gln1392Arg)
|
|
|
NM_001040108.2(MLH3):c.4176G>C (p.Gln1392His)
|
|
|
NM_001040108.2(MLH3):c.4176G>T (p.Gln1392His)
|
|
|
NM_001040108.2(MLH3):c.4190G>A (p.Arg1397Lys)
|
|
|
NM_001040108.2(MLH3):c.4193C>T (p.Pro1398Leu)
|
|
|
NM_001040108.2(MLH3):c.4195_4197del (p.Ser1399del)
|
|
|
NM_001040108.2(MLH3):c.4198A>G (p.Met1400Val)
|
rs375559867
|
|
NM_001040108.2(MLH3):c.4199T>C (p.Met1400Thr)
|
|
|
NM_001040108.2(MLH3):c.4217_4218del (p.Ile1406fs)
|
rs1410621557
|
|
NM_001040108.2(MLH3):c.4225T>G (p.Leu1409Val)
|
rs1890074696
|
|
NM_001040108.2(MLH3):c.4238_4242+1dup
|
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
NM_001040108.2(MLH3):c.424G>A (p.Ala142Thr)
|
rs745639930
|
|
NM_001040108.2(MLH3):c.424G>T (p.Ala142Ser)
|
rs745639930
|
|
NM_001040108.2(MLH3):c.4258A>G (p.Thr1420Ala)
|
|
|
NM_001040108.2(MLH3):c.425C>T (p.Ala142Val)
|
rs1892494189
|
|
NM_001040108.2(MLH3):c.4267C>T (p.Arg1423Cys)
|
|
|
NM_001040108.2(MLH3):c.4273A>G (p.Met1425Val)
|
|
|
NM_001040108.2(MLH3):c.4275G>C (p.Met1425Ile)
|
|
|
NM_001040108.2(MLH3):c.4275G>T (p.Met1425Ile)
|
|
|
NM_001040108.2(MLH3):c.4276G>T (p.Ala1426Ser)
|
|
|
NM_001040108.2(MLH3):c.4281_4282delinsCA (p.Gln1427_Ala1428delinsHisThr)
|
|
|
NM_001040108.2(MLH3):c.4284_4291del (p.Trp1429fs)
|
|
|
NM_001040108.2(MLH3):c.4288C>T (p.Arg1430Cys)
|
rs987273805
|
|
NM_001040108.2(MLH3):c.4289G>T (p.Arg1430Leu)
|
rs760305520
|
|
NM_001040108.2(MLH3):c.4289_4293del (p.Arg1430fs)
|
rs1450109980
|
|
NM_001040108.2(MLH3):c.4291C>T (p.Leu1431Phe)
|
|
|
NM_001040108.2(MLH3):c.4307A>T (p.Glu1436Val)
|
rs1297572379
|
|
NM_001040108.2(MLH3):c.4324A>G (p.Ser1442Gly)
|
rs368866849
|
|
NM_001040108.2(MLH3):c.4335A>T (p.Gln1445His)
|
|
|
NM_001040108.2(MLH3):c.4351G>C (p.Glu1451Gln)
|
rs28939071
|
|
NM_001040108.2(MLH3):c.4354C>T (p.Pro1452Ser)
|
|
|
NM_001040108.2(MLH3):c.4357C>T (p.Pro1453Ser)
|
rs1889930562
|
|
NM_001040108.2(MLH3):c.4358C>T (p.Pro1453Leu)
|
|
|
NM_001040108.2(MLH3):c.440C>T (p.Thr147Ile)
|
|
|
NM_001040108.2(MLH3):c.454T>G (p.Phe152Val)
|
rs750745575
|
|
NM_001040108.2(MLH3):c.470T>C (p.Val157Ala)
|
rs1892490042
|
|
NM_001040108.2(MLH3):c.476G>A (p.Arg159Lys)
|
rs1892489444
|
|
NM_001040108.2(MLH3):c.476G>C (p.Arg159Thr)
|
rs1892489444
|
|
NM_001040108.2(MLH3):c.486G>A (p.Met162Ile)
|
rs2139605007
|
|
NM_001040108.2(MLH3):c.487dup (p.Asp163fs)
|
rs1566609884
|
|
NM_001040108.2(MLH3):c.510G>T (p.Lys170Asn)
|
|
|
NM_001040108.2(MLH3):c.511G>T (p.Val171Phe)
|
rs2139604418
|
|
NM_001040108.2(MLH3):c.519G>C (p.Gln173His)
|
rs1060503070
|
|
NM_001040108.2(MLH3):c.526G>C (p.Glu176Gln)
|
|
|
NM_001040108.2(MLH3):c.529G>A (p.Ala177Thr)
|
rs1176881826
|
|
NM_001040108.2(MLH3):c.548C>T (p.Pro183Leu)
|
|
|
NM_001040108.2(MLH3):c.552del (p.Ile185fs)
|
|
|
NM_001040108.2(MLH3):c.561C>G (p.Phe187Leu)
|
rs1892481050
|
|
NM_001040108.2(MLH3):c.574G>T (p.Asp192Tyr)
|
|
|
NM_001040108.2(MLH3):c.615del (p.Asp206fs)
|
rs746171271
|
|
NM_001040108.2(MLH3):c.620T>C (p.Val207Ala)
|
rs1892474385
|
|
NM_001040108.2(MLH3):c.622T>C (p.Cys208Arg)
|
rs770150549
|
|
NM_001040108.2(MLH3):c.651G>C (p.Leu217Phe)
|
|
|
NM_001040108.2(MLH3):c.662A>G (p.Gln221Arg)
|
|
|
NM_001040108.2(MLH3):c.666G>C (p.Lys222Asn)
|
|
|
NM_001040108.2(MLH3):c.671G>A (p.Arg224Lys)
|
|
|
NM_001040108.2(MLH3):c.680G>A (p.Ser227Asn)
|
|
|
NM_001040108.2(MLH3):c.683T>G (p.Phe228Cys)
|
|
|
NM_001040108.2(MLH3):c.702G>C (p.Glu234Asp)
|
|
|
NM_001040108.2(MLH3):c.707G>A (p.Ser236Asn)
|
rs1594782527
|
|
NM_001040108.2(MLH3):c.713A>G (p.Tyr238Cys)
|
rs144707485
|
|
NM_001040108.2(MLH3):c.715A>G (p.Ile239Val)
|
rs568118559
|
|
NM_001040108.2(MLH3):c.716T>G (p.Ile239Ser)
|
|
|
NM_001040108.2(MLH3):c.71A>G (p.Gln24Arg)
|
rs2139614337
|
|
NM_001040108.2(MLH3):c.724G>A (p.Glu242Lys)
|
rs1892465052
|
|
NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)
|
rs774010757
|
|
NM_001040108.2(MLH3):c.743A>G (p.Asn248Ser)
|
rs1358270074
|
|
NM_001040108.2(MLH3):c.749A>G (p.Gln250Arg)
|
|
|
NM_001040108.2(MLH3):c.758_761del (p.Leu252_Phe253insTer)
|
|
|
NM_001040108.2(MLH3):c.76G>T (p.Val26Phe)
|
rs964651295
|
|
NM_001040108.2(MLH3):c.782G>A (p.Arg261Lys)
|
|
|
NM_001040108.2(MLH3):c.782G>T (p.Arg261Met)
|
rs2139599422
|
|
NM_001040108.2(MLH3):c.787A>T (p.Lys263Ter)
|
|
|
NM_001040108.2(MLH3):c.799C>G (p.Leu267Val)
|
|
|
NM_001040108.2(MLH3):c.825A>C (p.Glu275Asp)
|
rs1040135404
|
|
NM_001040108.2(MLH3):c.826del (p.Ser276fs)
|
rs2139598363
|
|
NM_001040108.2(MLH3):c.828TAT[1] (p.Ile278del)
|
rs2139598111
|
|
NM_001040108.2(MLH3):c.829A>G (p.Ile277Val)
|
rs2139598210
|
|
NM_001040108.2(MLH3):c.832A>T (p.Ile278Leu)
|
rs753294129
|
|
NM_001040108.2(MLH3):c.833T>C (p.Ile278Thr)
|
|
|
NM_001040108.2(MLH3):c.842C>G (p.Pro281Arg)
|
|
|
NM_001040108.2(MLH3):c.844A>T (p.Lys282Ter)
|
rs2139597638
|
|
NM_001040108.2(MLH3):c.848A>G (p.Asn283Ser)
|
rs1336838076
|
|
NM_001040108.2(MLH3):c.868A>G (p.Met290Val)
|
rs1594782103
|
|
NM_001040108.2(MLH3):c.880C>G (p.Leu294Val)
|
rs372192067
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
NM_001040108.2(MLH3):c.886C>T (p.His296Tyr)
|
rs2139595991
|
|
NM_001040108.2(MLH3):c.910G>A (p.Gly304Ser)
|
|
|
NM_001040108.2(MLH3):c.917A>G (p.Tyr306Cys)
|
rs2139594612
|
|
NM_001040108.2(MLH3):c.946G>C (p.Glu316Gln)
|
|
|
NM_001040108.2(MLH3):c.950ATG[1] (p.Asp318del)
|
rs1892443767
|
|
NM_001040108.2(MLH3):c.956T>A (p.Val319Glu)
|
|
|
NM_001040108.2(MLH3):c.961A>G (p.Met321Val)
|
rs886050778
|
|
NM_001040108.2(MLH3):c.964G>C (p.Glu322Gln)
|
|
|
NM_001040108.2(MLH3):c.965A>G (p.Glu322Gly)
|
|
|
NM_001040108.2(MLH3):c.971C>G (p.Ala324Gly)
|
|
|
NM_001040108.2(MLH3):c.977C>T (p.Thr326Ile)
|
rs1892441207
|
|
NM_001040108.2(MLH3):c.97A>G (p.Ser33Gly)
|
rs770219274
|
|
NM_001040108.2(MLH3):c.98G>A (p.Ser33Asn)
|
rs2139613635
|
|
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)
|
rs370858630
|
|
NM_001040113.2(MYH11):c.654+1G>A
|
rs770424951
|
|
NM_001041.3(SI):c.*473G>A
|
rs1717036361
|
|
NM_001041.4(SI):c.*151A>G
|
rs1260115524
|
|
NM_001041.4(SI):c.*229T>C
|
rs886058140
|
|
NM_001041.4(SI):c.1147-13T>A
|
rs771233611
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
NM_001041.4(SI):c.1380T>C (p.Ser460=)
|
rs886058148
|
|
NM_001041.4(SI):c.1399-402_1513-1189dup
|
|
|
NM_001041.4(SI):c.1567A>C (p.Asn523His)
|
rs780055379
|
|
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
|
rs1034161542
|
|
NM_001041.4(SI):c.16T>C (p.Phe6Leu)
|
rs886058151
|
|
NM_001041.4(SI):c.1715+14C>A
|
rs867982218
|
|
NM_001041.4(SI):c.1910T>G (p.Phe637Cys)
|
rs886058147
|
|
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)
|
rs967166732
|
|
NM_001041.4(SI):c.2381G>T (p.Gly794Val)
|
rs886058146
|
|
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
|
rs370537003
|
|
NM_001041.4(SI):c.2737-23_2737-22dup
|
rs11452619
|
|
NM_001041.4(SI):c.2737-8del
|
rs886058145
|
|
NM_001041.4(SI):c.2772A>G (p.Gly924=)
|
rs1712190551
|
|
NM_001041.4(SI):c.2859A>G (p.Gln953=)
|
rs1444268809
|
|
NM_001041.4(SI):c.3064G>A (p.Val1022Met)
|
rs201018248
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001041.4(SI):c.3540T>C (p.Thr1180=)
|
rs759754319
|
|
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
|
rs762898979
|
|
NM_001041.4(SI):c.371T>C (p.Ile124Thr)
|
rs889224862
|
|
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
|
rs779155501
|
|
NM_001041.4(SI):c.373+11C>T
|
rs373374968
|
|
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)
|
rs886058144
|
|
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)
|
rs886058143
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)
|
rs747041492
|
|
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
|
rs1718841872
|
|
NM_001041.4(SI):c.4077T>C (p.His1359=)
|
rs886058142
|
|
NM_001041.4(SI):c.4191G>A (p.Glu1397=)
|
rs886058141
|
|
NM_001041.4(SI):c.4209T>C (p.Asn1403=)
|
rs113826825
|
|
NM_001041.4(SI):c.4267+9T>C
|
rs1718590792
|
|
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
|
rs1717913697
|
|
NM_001041.4(SI):c.4793A>T (p.His1598Leu)
|
rs562705407
|
|
NM_001041.4(SI):c.483+8T>G
|
rs1714387601
|
|
NM_001041.4(SI):c.4841+15T>A
|
rs1041663787
|
|
NM_001041.4(SI):c.4842-3G>A
|
rs112107483
|
|
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)
|
rs150702232
|
|
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)
|
rs760505676
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
NM_001041.4(SI):c.5319T>C (p.His1773=)
|
rs774545616
|
|
NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)
|
|
|
NM_001041.4(SI):c.635+3A>G
|
rs879204269
|
|
NM_001041.4(SI):c.636-14_636-10del
|
rs886058150
|
|
NM_001042413.2(GLIS3):c.*1145G>T
|
rs1817766141
|
|
NM_001042413.2(GLIS3):c.*1209G>C
|
rs569524976
|
|
NM_001042413.2(GLIS3):c.*1286G>A
|
rs115457453
|
|
NM_001042413.2(GLIS3):c.*1507T>C
|
rs1817748926
|
|
NM_001042413.2(GLIS3):c.*1744A>G
|
rs886063946
|
|
NM_001042413.2(GLIS3):c.*1901G>C
|
rs755453024
|
|
NM_001042413.2(GLIS3):c.*1999CT[1]
|
rs567458278
|
|
NM_001042413.2(GLIS3):c.*2113G>T
|
rs886063945
|
|
NM_001042413.2(GLIS3):c.*2320G>A
|
rs1817705262
|
|
NM_001042413.2(GLIS3):c.*2411A>G
|
rs368160002
|
|
NM_001042413.2(GLIS3):c.*2426T>C
|
rs578030304
|
|
NM_001042413.2(GLIS3):c.*2454G>A
|
rs1817696950
|
|
NM_001042413.2(GLIS3):c.*253G>A
|
rs1817817278
|
|
NM_001042413.2(GLIS3):c.*2962G>C
|
rs1421144796
|
|
NM_001042413.2(GLIS3):c.*2968T>A
|
rs1817668227
|
|
NM_001042413.2(GLIS3):c.*3137C>T
|
rs1588033009
|
|
NM_001042413.2(GLIS3):c.*3231A>C
|
rs886063940
|
|
NM_001042413.2(GLIS3):c.*3336_*3340del
|
rs886063937
|
|
NM_001042413.2(GLIS3):c.*3344T>A
|
rs973943223
|
|
NM_001042413.2(GLIS3):c.*3351_*3352del
|
rs1554622288
|
|
NM_001042413.2(GLIS3):c.*3394T>C
|
rs1817642452
|
|
NM_001042413.2(GLIS3):c.*3441T>C
|
rs776859192
|
|
NM_001042413.2(GLIS3):c.*372G>C
|
rs759918471
|
|
NM_001042413.2(GLIS3):c.*3764G>A
|
rs1428498369
|
|
NM_001042413.2(GLIS3):c.*3948G>T
|
rs925921846
|
|
NM_001042413.2(GLIS3):c.*513G>A
|
rs1817803317
|
|
NM_001042413.2(GLIS3):c.*572T>C
|
rs886063950
|
|
NM_001042413.2(GLIS3):c.*593G>C
|
rs1817799571
|
|
NM_001042413.2(GLIS3):c.*679C>A
|
rs907936960
|
|
NM_001042413.2(GLIS3):c.*69T>C
|
rs913597564
|
|
NM_001042413.2(GLIS3):c.*962G>A
|
rs1284782731
|
|
NM_001042413.2(GLIS3):c.*969C>T
|
rs756499534
|
|
NM_001042413.2(GLIS3):c.*99C>T
|
rs886063952
|
|
NM_001042413.2(GLIS3):c.-110C>G
|
rs568860551
|
|
NM_001042413.2(GLIS3):c.-165C>T
|
rs886063959
|
|
NM_001042413.2(GLIS3):c.-204C>G
|
rs1196849640
|
|
NM_001042413.2(GLIS3):c.-205C>G
|
rs370427664
|
|
NM_001042413.2(GLIS3):c.-379C>A
|
rs529345219
|
|
NM_001042413.2(GLIS3):c.-588C>A
|
rs886063961
|
|
NM_001042413.2(GLIS3):c.-588C>T
|
rs886063961
|
|
NM_001042413.2(GLIS3):c.-619C>G
|
rs886063962
|
|
NM_001042413.2(GLIS3):c.-98-4A>G
|
|
|
NM_001042413.2(GLIS3):c.1033C>T (p.Pro345Ser)
|
|
|
NM_001042413.2(GLIS3):c.1079C>T (p.Pro360Leu)
|
|
|
NM_001042413.2(GLIS3):c.1092G>C (p.Pro364=)
|
rs74680081
|
|
NM_001042413.2(GLIS3):c.1111G>T (p.Gly371Cys)
|
rs1293183683
|
|
NM_001042413.2(GLIS3):c.1124C>A (p.Ala375Asp)
|
rs752335934
|
|
NM_001042413.2(GLIS3):c.1464C>G (p.Asp488Glu)
|
rs377094207
|
|
NM_001042413.2(GLIS3):c.1710+59006G>A
|
|
|
NM_001042413.2(GLIS3):c.1710+80188T>A
|
|
|
NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser)
|
|
|
NM_001042413.2(GLIS3):c.205G>A (p.Ala69Thr)
|
rs1827980738
|
|
NM_001042413.2(GLIS3):c.2129-1G>C
|
rs1563806466
|
|
NM_001042413.2(GLIS3):c.2206C>A (p.His736Asn)
|
|
|
NM_001042413.2(GLIS3):c.2297+11_2297+12del
|
rs779433100
|
|
NM_001042413.2(GLIS3):c.2323C>T (p.His775Tyr)
|
rs745671153
|
|
NM_001042413.2(GLIS3):c.249C>G (p.Ala83=)
|
rs528442203
|
|
NM_001042413.2(GLIS3):c.2528G>A (p.Arg843Lys)
|
rs1470189708
|
|
NM_001042413.2(GLIS3):c.2765A>T (p.Gln922Leu)
|
rs1057524895
|
|
NM_001042413.2(GLIS3):c.287C>G (p.Pro96Arg)
|
rs143425492
|
|
NM_001042413.2(GLIS3):c.35G>A (p.Arg12Gln)
|
|
|
NM_001042413.2(GLIS3):c.388G>A (p.Gly130Arg)
|
rs777378754
|
|
NM_001042413.2(GLIS3):c.389-58616G>C
|
|
|
NM_001042413.2(GLIS3):c.389-7364T>G
|
|
|
NM_001042413.2(GLIS3):c.41C>G (p.Ser14Trp)
|
rs765421766
|
|
NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn)
|
|
|
NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly)
|
|
|
NM_001042413.2(GLIS3):c.596+8G>A
|
rs1832524240
|
|
NM_001042413.2(GLIS3):c.706T>G (p.Ser236Ala)
|
|
|
NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)
|
|
|
NM_001042413.2(GLIS3):c.810A>G (p.Pro270=)
|
rs376404333
|
|
NM_001042413.2(GLIS3):c.810A>T (p.Pro270=)
|
rs376404333
|
|
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala)
|
rs143051164
|
|
NM_001042413.2(GLIS3):c.850C>G (p.Pro284Ala)
|
rs1314066533
|
|
NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro)
|
rs375834888
|
|
NM_001042413.2(GLIS3):c.969G>A (p.Ser323=)
|
rs201431173
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
NM_001048174.2(MUTYH):c.1223T>A (p.Leu408His)
|
rs1570370748
|
|
NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val)
|
rs1553125016
|
|
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys)
|
rs1064794128
|
|
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)
|
rs1057517460
|
|
NM_001048174.2(MUTYH):c.424G>A (p.Val142Met)
|
rs786203212
|
|
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly)
|
rs761101420
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)
|
rs786201772
|
|
NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe)
|
rs879254257
|
|
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)
|
rs587778538
|
|
NM_001077268.2(ZFYVE19):c.374G>A (p.Cys125Tyr)
|
|
|
NM_001077268.2(ZFYVE19):c.446A>C (p.Tyr149Ser)
|
|
|
NM_001080467.3(MYO5B):c.*1014T>C
|
rs2023831021
|
|
NM_001080467.3(MYO5B):c.*1227A>G
|
rs2023827479
|
|
NM_001080467.3(MYO5B):c.*1328C>G
|
rs2023826094
|
|
NM_001080467.3(MYO5B):c.*1451C>T
|
rs2023824626
|
|
NM_001080467.3(MYO5B):c.*1526A>C
|
rs2023823741
|
|
NM_001080467.3(MYO5B):c.*1610G>T
|
rs148887718
|
|
NM_001080467.3(MYO5B):c.*1771T>C
|
rs373737044
|
|
NM_001080467.3(MYO5B):c.*1853G>C
|
rs369655468
|
|
NM_001080467.3(MYO5B):c.*1896C>A
|
rs79745077
|
|
NM_001080467.3(MYO5B):c.*1965C>T
|
rs78555149
|
|
NM_001080467.3(MYO5B):c.*1975T>C
|
rs75032645
|
|
NM_001080467.3(MYO5B):c.*1993C>G
|
rs75305404
|
|
NM_001080467.3(MYO5B):c.*2009T>A
|
rs79509391
|
|
NM_001080467.3(MYO5B):c.*2088A>G
|
rs75318758
|
|
NM_001080467.3(MYO5B):c.*2114C>T
|
rs1040969957
|
|
NM_001080467.3(MYO5B):c.*2129A>G
|
rs73959721
|
|
NM_001080467.3(MYO5B):c.*2158G>A
|
rs74651470
|
|
NM_001080467.3(MYO5B):c.*2171T>C
|
rs886053859
|
|
NM_001080467.3(MYO5B):c.*2183C>T
|
rs774764763
|
|
NM_001080467.3(MYO5B):c.*2187C>T
|
rs375542187
|
|
NM_001080467.3(MYO5B):c.*2204T>C
|
rs1045170751
|
|
NM_001080467.3(MYO5B):c.*2211T>C
|
rs72925917
|
|
NM_001080467.3(MYO5B):c.*2219G>C
|
rs72925916
|
|
NM_001080467.3(MYO5B):c.*2240A>G
|
rs607552
|
|
NM_001080467.3(MYO5B):c.*2248C>T
|
rs114048807
|
|
NM_001080467.3(MYO5B):c.*2256C>T
|
rs78050801
|
|
NM_001080467.3(MYO5B):c.*2289C>A
|
rs77330305
|
|
NM_001080467.3(MYO5B):c.*2316A>T
|
rs74812451
|
|
NM_001080467.3(MYO5B):c.*2339T>C
|
rs377539134
|
|
NM_001080467.3(MYO5B):c.*2347T>C
|
rs374402517
|
|
NM_001080467.3(MYO5B):c.*2397T>C
|
rs141004090
|
|
NM_001080467.3(MYO5B):c.*2465G>A
|
rs140222157
|
|
NM_001080467.3(MYO5B):c.*2640G>A
|
rs114480066
|
|
NM_001080467.3(MYO5B):c.*2646G>A
|
rs796115232
|
|
NM_001080467.3(MYO5B):c.*2666A>C
|
rs373899751
|
|
NM_001080467.3(MYO5B):c.*2672C>T
|
rs375423515
|
|
NM_001080467.3(MYO5B):c.*2693T>C
|
rs373513902
|
|
NM_001080467.3(MYO5B):c.*2695A>G
|
rs369742971
|
|
NM_001080467.3(MYO5B):c.*2730C>A
|
rs369797807
|
|
NM_001080467.3(MYO5B):c.*2825T>A
|
rs373003146
|
|
NM_001080467.3(MYO5B):c.*2827A>G
|
rs369480218
|
|
NM_001080467.3(MYO5B):c.*2828G>T
|
rs375226833
|
|
NM_001080467.3(MYO5B):c.*2838C>A
|
rs72925913
|
|
NM_001080467.3(MYO5B):c.*2860T>C
|
rs72925912
|
|
NM_001080467.3(MYO5B):c.*2871G>C
|
rs77754378
|
|
NM_001080467.3(MYO5B):c.*2896A>T
|
rs372605995
|
|
NM_001080467.3(MYO5B):c.*2908C>T
|
rs117972198
|
|
NM_001080467.3(MYO5B):c.*2910G>T
|
rs116888891
|
|
NM_001080467.3(MYO5B):c.*2916A>C
|
rs147973380
|
|
NM_001080467.3(MYO5B):c.*2919C>T
|
rs115116077
|
|
NM_001080467.3(MYO5B):c.*2922C>T
|
rs148796775
|
|
NM_001080467.3(MYO5B):c.*2923A>G
|
rs144518115
|
|
NM_001080467.3(MYO5B):c.*2956G>A
|
rs1167522718
|
|
NM_001080467.3(MYO5B):c.*2960T>C
|
rs76811062
|
|
NM_001080467.3(MYO5B):c.*2974A>G
|
rs115831173
|
|
NM_001080467.3(MYO5B):c.*3000C>T
|
rs112057683
|
|
NM_001080467.3(MYO5B):c.*3049G>A
|
rs1366788070
|
|
NM_001080467.3(MYO5B):c.*3073T>G
|
rs73959716
|
|
NM_001080467.3(MYO5B):c.*309G>A
|
rs886053870
|
|
NM_001080467.3(MYO5B):c.*3102C>A
|
rs113215300
|
|
NM_001080467.3(MYO5B):c.*3149A>C
|
rs368309880
|
|
NM_001080467.3(MYO5B):c.*3157G>C
|
rs375530149
|
|
NM_001080467.3(MYO5B):c.*3158G>A
|
rs372278198
|
|
NM_001080467.3(MYO5B):c.*3161A>C
|
rs886053854
|
|
NM_001080467.3(MYO5B):c.*3188G>A
|
rs75335611
|
|
NM_001080467.3(MYO5B):c.*3208T>C
|
rs368561623
|
|
NM_001080467.3(MYO5B):c.*3213A>G
|
rs201748833
|
|
NM_001080467.3(MYO5B):c.*3220C>T
|
rs200885001
|
|
NM_001080467.3(MYO5B):c.*3239A>G
|
rs1598810725
|
|
NM_001080467.3(MYO5B):c.*3273G>C
|
rs9947739
|
|
NM_001080467.3(MYO5B):c.*3282G>A
|
rs371042751
|
|
NM_001080467.3(MYO5B):c.*3292T>C
|
rs368155236
|
|
NM_001080467.3(MYO5B):c.*3300A>G
|
rs367570644
|
|
NM_001080467.3(MYO5B):c.*3315T>C
|
rs558262946
|
|
NM_001080467.3(MYO5B):c.*3317C>T
|
rs886053853
|
|
NM_001080467.3(MYO5B):c.*3341T>C
|
rs371306335
|
|
NM_001080467.3(MYO5B):c.*3342C>G
|
rs1342001906
|
|
NM_001080467.3(MYO5B):c.*3351A>C
|
rs369420591
|
|
NM_001080467.3(MYO5B):c.*3357G>A
|
rs1201555709
|
|
NM_001080467.3(MYO5B):c.*3364A>G
|
rs777915881
|
|
NM_001080467.3(MYO5B):c.*3365T>C
|
rs375545150
|
|
NM_001080467.3(MYO5B):c.*3379A>C
|
rs371267343
|
|
NM_001080467.3(MYO5B):c.*3381G>C
|
rs377694296
|
|
NM_001080467.3(MYO5B):c.*3391A>G
|
rs373429782
|
|
NM_001080467.3(MYO5B):c.*3423G>T
|
rs879173424
|
|
NM_001080467.3(MYO5B):c.*3544C>T
|
rs1276336111
|
|
NM_001080467.3(MYO5B):c.*58C>T
|
rs2023845967
|
|
NM_001080467.3(MYO5B):c.*68A>T
|
rs886053872
|
|
NM_001080467.3(MYO5B):c.-177C>A
|
rs369578654
|
|
NM_001080467.3(MYO5B):c.-242C>G
|
rs576772655
|
|
NM_001080467.3(MYO5B):c.-93C>T
|
rs1007521035
|
|
NM_001080467.3(MYO5B):c.1015G>C (p.Ala339Pro)
|
|
|
NM_001080467.3(MYO5B):c.1027G>A (p.Glu343Lys)
|
rs2025802093
|
|
NM_001080467.3(MYO5B):c.1705A>T (p.Arg569Ter)
|
rs1568045080
|
|
NM_001080467.3(MYO5B):c.1713G>C (p.Thr571=)
|
rs185840586
|
|
NM_001080467.3(MYO5B):c.1753-4C>G
|
rs2025263667
|
|
NM_001080467.3(MYO5B):c.1952C>G (p.Thr651Arg)
|
rs886053882
|
|
NM_001080467.3(MYO5B):c.2203-13C>T
|
rs550696496
|
|
NM_001080467.3(MYO5B):c.2231C>T (p.Thr744Ile)
|
rs886053880
|
|
NM_001080467.3(MYO5B):c.2366G>A (p.Gly789Glu)
|
rs756579504
|
|
NM_001080467.3(MYO5B):c.2411G>A (p.Arg804His)
|
rs767203225
|
|
NM_001080467.3(MYO5B):c.242A>G (p.His81Arg)
|
rs2144390167
|
|
NM_001080467.3(MYO5B):c.2588A>G (p.Lys863Arg)
|
rs886053879
|
|
NM_001080467.3(MYO5B):c.272T>C (p.Val91Ala)
|
rs1165303022
|
|
NM_001080467.3(MYO5B):c.2803G>A (p.Asp935Asn)
|
rs886053878
|
|
NM_001080467.3(MYO5B):c.3244G>A (p.Asp1082Asn)
|
rs768704859
|
|
NM_001080467.3(MYO5B):c.3297G>T (p.Arg1099=)
|
rs2024544820
|
|
NM_001080467.3(MYO5B):c.345G>T (p.Gln115His)
|
rs2026454898
|
|
NM_001080467.3(MYO5B):c.3468G>A (p.Leu1156=)
|
rs1193229060
|
|
NM_001080467.3(MYO5B):c.3638A>T (p.Lys1213Met)
|
rs201651982
|
|
NM_001080467.3(MYO5B):c.3843+9A>T
|
rs780988723
|
|
NM_001080467.3(MYO5B):c.3889C>T (p.His1297Tyr)
|
rs886053877
|
|
NM_001080467.3(MYO5B):c.3917C>T (p.Ala1306Val)
|
rs886053876
|
|
NM_001080467.3(MYO5B):c.4484G>T (p.Gly1495Val)
|
rs2024085527
|
|
NM_001080467.3(MYO5B):c.4853-15G>C
|
rs886053874
|
|
NM_001080467.3(MYO5B):c.5313+6G>A
|
rs886053873
|
|
NM_001080467.3(MYO5B):c.5411G>C (p.Arg1804Pro)
|
rs201080553
|
|
NM_001080467.3(MYO5B):c.558G>A (p.Ser186=)
|
rs577054276
|
|
NM_001080467.3(MYO5B):c.638G>A (p.Arg213His)
|
rs557316656
|
|
NM_001080467.3(MYO5B):c.996C>T (p.Ile332=)
|
rs16951352
|
|
NM_001080467.3(MYO5B):c.999G>T (p.Leu333Phe)
|
|
|
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg)
|
rs1556050492
|
|
NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His)
|
rs1580132131
|
|
NM_001109809.5(ZFP57):c.288G>C (p.Lys96Asn)
|
rs745602868
|
|
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln)
|
rs114591600
|
|
NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr)
|
rs1554211826
|
|
NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys)
|
|
|
NM_001109809.5(ZFP57):c.857C>T (p.Pro286Leu)
|
rs753928819
|
|
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
|
rs1569551838
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
|
rs1557177412
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr)
|
rs1571197028
|
|
NM_001114753.3(ENG):c.-70del
|
rs886063477
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001122659.3(EDNRB):c.*1260G>A
|
rs886050323
|
|
NM_001122659.3(EDNRB):c.*1302G>A
|
rs1381062477
|
|
NM_001122659.3(EDNRB):c.*1514G>T
|
rs201845371
|
|
NM_001122659.3(EDNRB):c.*1784A>G
|
rs1285403588
|
|
NM_001122659.3(EDNRB):c.*2041T>C
|
rs200276436
|
|
NM_001122659.3(EDNRB):c.*2355T>C
|
rs886050319
|
|
NM_001122659.3(EDNRB):c.*2426A>C
|
rs886050318
|
|
NM_001122659.3(EDNRB):c.*2665T>C
|
rs1878575169
|
|
NM_001122659.3(EDNRB):c.*585G>C
|
rs201012049
|
|
NM_001122659.3(EDNRB):c.*63G>A
|
rs986500037
|
|
NM_001122659.3(EDNRB):c.*781G>T
|
rs201115297
|
|
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)
|
rs2137603390
|
|
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)
|
rs1566302937
|
|
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln)
|
rs1878741475
|
|
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)
|
rs2137599519
|
|
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg)
|
rs1261885036
|
|
NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)
|
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg)
|
rs1878958050
|
|
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)
|
|
|
NM_001122764.3(PPOX):c.-174A>G
|
rs886045451
|
|
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=)
|
rs771215757
|
|
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val)
|
rs886045455
|
|
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=)
|
rs1661206662
|
|
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr)
|
rs1661220672
|
|
NM_001122764.3(PPOX):c.338+9A>G
|
rs886045453
|
|
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
|
|
|
NM_001122764.3(PPOX):c.522C>T (p.Asn174=)
|
rs886045454
|
|
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe)
|
rs1659928956
|
|
NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)
|
|
|
NM_001122764.3(PPOX):c.69G>T (p.Arg23=)
|
rs886045452
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001127511.3(APC):c.-128G>C
|
rs543098847
|
|
NM_001127511.3(APC):c.-142G>A
|
rs951500465
|
|
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)
|
rs375349172
|
|
NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)
|
rs1204448380
|
|
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His)
|
rs369215353
|
|
NM_001141945.3(ACTA2):c.-23-3850C>G
|
rs1846074147
|
|
NM_001141945.3(ACTA2):c.-23-3869A>G
|
rs886047455
|
|
NM_001141945.3(ACTA2):c.-24+236C>T
|
rs886047457
|
|
NM_001141945.3(ACTA2):c.-24+399C>T
|
rs886047456
|
|
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe)
|
rs41313912
|
|
NM_001166108.2(PALLD):c.*1011_*1014dup
|
rs1363457314
|
|
NM_001166108.2(PALLD):c.*155C>G
|
rs1560940853
|
|
NM_001166108.2(PALLD):c.*161C>T
|
rs1762577012
|
|
NM_001166108.2(PALLD):c.*1713T>C
|
rs765552955
|
|
NM_001166108.2(PALLD):c.*1757T>G
|
rs886059214
|
|
NM_001166108.2(PALLD):c.*1786_*1787insATT
|
rs1553986519
|
|
NM_001166108.2(PALLD):c.*182T>A
|
|
|
NM_001166108.2(PALLD):c.*194G>C
|
rs893660432
|
|
NM_001166108.2(PALLD):c.*203T>A
|
rs1762582426
|
|
NM_001166108.2(PALLD):c.*2155_*2156del
|
rs398064261
|
|
NM_001166108.2(PALLD):c.*2156dup
|
rs398064261
|
|
NM_001166108.2(PALLD):c.*2168C>A
|
rs886059221
|
|
NM_001166108.2(PALLD):c.*33C>T
|
rs569054006
|
|
NM_001166108.2(PALLD):c.*37G>T
|
|
|
NM_001166108.2(PALLD):c.*386T>C
|
rs575876255
|
|
NM_001166108.2(PALLD):c.*40G>C
|
rs2126617157
|
|
NM_001166108.2(PALLD):c.*41C>T
|
rs2126617192
|
|
NM_001166108.2(PALLD):c.*461G>A
|
rs939786378
|
|
NM_001166108.2(PALLD):c.*57del
|
|
|
NM_001166108.2(PALLD):c.*63A>G
|
|
|
NM_001166108.2(PALLD):c.*69A>T
|
rs2126617465
|
|
NM_001166108.2(PALLD):c.*71A>G
|
rs2126617547
|
|
NM_001166108.2(PALLD):c.*71_*73dup
|
|
|
NM_001166108.2(PALLD):c.*73A>T
|
|
|
NM_001166108.2(PALLD):c.*829dup
|
rs886059211
|
|
NM_001166108.2(PALLD):c.*93G>A
|
|
|
NM_001166108.2(PALLD):c.*96A>T
|
|
|
NM_001166108.2(PALLD):c.-139G>T
|
rs886059208
|
|
NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile)
|
rs776908136
|
|
NM_001166108.2(PALLD):c.1616C>T (p.Thr539Ile)
|
rs780510622
|
|
NM_001166108.2(PALLD):c.1926C>G (p.Pro642=)
|
rs886059210
|
|
NM_001166108.2(PALLD):c.1957C>A (p.Pro653Thr)
|
rs1784873065
|
|
NM_001166108.2(PALLD):c.1964+44317_1964+44318inv
|
|
|
NM_001166108.2(PALLD):c.1965-12532C>A
|
rs979242789
|
|
NM_001166108.2(PALLD):c.1965-12540G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12543A>G
|
rs969187093
|
|
NM_001166108.2(PALLD):c.1965-12549T>C
|
|
|
NM_001166108.2(PALLD):c.1965-12550C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12553G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12570C>T
|
rs587780761
|
|
NM_001166108.2(PALLD):c.1965-12573C>G
|
rs1220928329
|
|
NM_001166108.2(PALLD):c.1965-12580C>G
|
rs1752110315
|
|
NM_001166108.2(PALLD):c.1965-12581GCC[2]
|
rs1291430290
|
|
NM_001166108.2(PALLD):c.1965-12582_1965-12577dup
|
|
|
NM_001166108.2(PALLD):c.1965-12597C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12597C>T
|
rs1221751077
|
|
NM_001166108.2(PALLD):c.1965-12598G>C
|
rs2151120162
|
|
NM_001166108.2(PALLD):c.1965-12601A>G
|
|
|
NM_001166108.2(PALLD):c.1965-12612C>A
|
rs2151119973
|
|
NM_001166108.2(PALLD):c.1965-12626_1965-12625inv
|
|
|
NM_001166108.2(PALLD):c.1965-12627A>C
|
|
|
NM_001166108.2(PALLD):c.1965-12637C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12640A>G
|
|
|
NM_001166108.2(PALLD):c.1965-12648C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12658C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12663C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12678C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12679C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12684C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12688C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12693_1965-12682del
|
|
|
NM_001166108.2(PALLD):c.1965-12696C>T
|
rs1752080178
|
|
NM_001166108.2(PALLD):c.1965-12698_1965-12690del
|
rs1752077261
|
|
NM_001166108.2(PALLD):c.1965-12701GCC[6]
|
rs748729107
|
|
NM_001166108.2(PALLD):c.1965-12723C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12723C>T
|
rs748894104
|
|
NM_001166108.2(PALLD):c.1965-12730G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12735C>A
|
rs1434151476
|
|
NM_001166108.2(PALLD):c.1965-12744T>C
|
|
|
NM_001166108.2(PALLD):c.1965-12749G>A
|
rs1209607829
|
|
NM_001166108.2(PALLD):c.1965-12758_1965-12753del
|
rs864622087
|
|
NM_001166108.2(PALLD):c.1965-12758_1965-12753dup
|
rs864622087
|
|
NM_001166108.2(PALLD):c.1965-12761_1965-12756del
|
rs730882137
|
|
NM_001166108.2(PALLD):c.1965-12762C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12764_1965-12763insTCCCCG
|
rs1201131054
|
|
NM_001166108.2(PALLD):c.1965-12766C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12766_1965-12737del
|
rs2151118113
|
|
NM_001166108.2(PALLD):c.1965-12769C>A
|
rs1246689760
|
|
NM_001166108.2(PALLD):c.1965-12771C>T
|
rs1560839872
|
|
NM_001166108.2(PALLD):c.1965-12772T>C
|
rs1161219308
|
|
NM_001166108.2(PALLD):c.1965-12772delinsCCGCCCC
|
rs1553965326
|
|
NM_001166108.2(PALLD):c.1965-12785CTC[2]
|
rs1343996300
|
|
NM_001166108.2(PALLD):c.1965-12790_1965-12764del
|
|
|
NM_001166108.2(PALLD):c.1965-12792C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12799G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12802_1965-12797del
|
rs1264657310
|
|
NM_001166108.2(PALLD):c.1965-12805G>C
|
rs1553965295
|
|
NM_001166108.2(PALLD):c.1965-12811G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12816C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12821_1965-12807del
|
rs2151117365
|
|
NM_001166108.2(PALLD):c.1965-12822C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12822_1965-12811del
|
|
|
NM_001166108.2(PALLD):c.1965-12823G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12823G>C
|
|
|
NM_001166108.2(PALLD):c.1965-12828C>T
|
rs1060502974
|
|
NM_001166108.2(PALLD):c.1965-12832C>A
|
rs1060502975
|
|
NM_001166108.2(PALLD):c.1965-12838C>G
|
rs1219099309
|
|
NM_001166108.2(PALLD):c.1965-12841G>A
|
rs987780445
|
|
NM_001166108.2(PALLD):c.1965-12844C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12847G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12848C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12859C>T
|
rs1752033511
|
|
NM_001166108.2(PALLD):c.1965-12869G>A
|
rs2151116805
|
|
NM_001166108.2(PALLD):c.1965-12873C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12879C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12879C>T
|
rs958031030
|
|
NM_001166108.2(PALLD):c.1965-12880C>T
|
rs1263751006
|
|
NM_001166108.2(PALLD):c.1965-12882T>A
|
rs1752027354
|
|
NM_001166108.2(PALLD):c.1965-12883C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12889T>C
|
rs1553965214
|
|
NM_001166108.2(PALLD):c.1965-12901A>C
|
|
|
NM_001166108.2(PALLD):c.1965-12905_1965-12891del
|
rs587780754
|
|
NM_001166108.2(PALLD):c.1965-12906C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12909C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12916G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12916G>T
|
|
|
NM_001166108.2(PALLD):c.1965-12918A>T
|
|
|
NM_001166108.2(PALLD):c.1965-12928G>C
|
rs587780753
|
|
NM_001166108.2(PALLD):c.1965-12934G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12938C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12964C>T
|
rs1752004838
|
|
NM_001166108.2(PALLD):c.1965-12982_1965-12839del
|
|
|
NM_001166108.2(PALLD):c.1965-12985G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12985G>C
|
|
|
NM_001166108.2(PALLD):c.1965-12987C>T
|
rs1751999027
|
|
NM_001166108.2(PALLD):c.1965-12990C>A
|
rs864622627
|
|
NM_001166108.2(PALLD):c.1965-12990C>T
|
rs864622627
|
|
NM_001166108.2(PALLD):c.1965-12993A>T
|
|
|
NM_001166108.2(PALLD):c.1965-12997A>T
|
rs2151115353
|
|
NM_001166108.2(PALLD):c.1965-13000G>C
|
rs370602081
|
|
NM_001166108.2(PALLD):c.1965-13001del
|
rs1751995307
|
|
NM_001166108.2(PALLD):c.1965-13006G>A
|
|
|
NM_001166108.2(PALLD):c.1965-13012C>T
|
|
|
NM_001166108.2(PALLD):c.1965-13017C>T
|
|
|
NM_001166108.2(PALLD):c.1965-13026G>A
|
rs1751989868
|
|
NM_001166108.2(PALLD):c.1965-13028_1965-13016dup
|
rs1751989521
|
|
NM_001166108.2(PALLD):c.1965-7C>G
|
rs1446406744
|
|
NM_001166108.2(PALLD):c.1975AAG[1] (p.Lys660del)
|
rs864622531
|
|
NM_001166108.2(PALLD):c.1976A>T (p.Lys659Met)
|
rs766621175
|
|
NM_001166108.2(PALLD):c.1978_1979delinsGC (p.Lys660Ala)
|
|
|
NM_001166108.2(PALLD):c.1981G>C (p.Ala661Pro)
|
rs878854267
|
|
NM_001166108.2(PALLD):c.1981G>T (p.Ala661Ser)
|
|
|
NM_001166108.2(PALLD):c.1984A>T (p.Ser662Cys)
|
rs1279652646
|
|
NM_001166108.2(PALLD):c.1985G>A (p.Ser662Asn)
|
|
|
NM_001166108.2(PALLD):c.2032G>A (p.Asp678Asn)
|
rs764564619
|
|
NM_001166108.2(PALLD):c.2045A>G (p.Gln682Arg)
|
|
|
NM_001166108.2(PALLD):c.2056C>T (p.Arg686Ter)
|
rs1754079127
|
|
NM_001166108.2(PALLD):c.2065C>T (p.Arg689Cys)
|
|
|
NM_001166108.2(PALLD):c.2066G>C (p.Arg689Pro)
|
|
|
NM_001166108.2(PALLD):c.2100+5T>C
|
|
|
NM_001166108.2(PALLD):c.2100G>C (p.Pro700=)
|
rs1553968628
|
|
NM_001166108.2(PALLD):c.2101-3T>C
|
rs1350140320
|
|
NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr)
|
|
|
NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys)
|
|
|
NM_001166108.2(PALLD):c.2129G>A (p.Arg710His)
|
|
|
NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val)
|
rs878854268
|
|
NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val)
|
|
|
NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val)
|
|
|
NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile)
|
rs1389047255
|
|
NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile)
|
rs1407253197
|
|
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala)
|
|
|
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln)
|
rs1754736103
|
|
NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His)
|
|
|
NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe)
|
|
|
NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg)
|
rs1318598425
|
|
NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile)
|
|
|
NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr)
|
rs1755762387
|
|
NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly)
|
|
|
NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys)
|
rs1050591975
|
|
NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu)
|
rs1050591975
|
|
NM_001166108.2(PALLD):c.2324A>C (p.Asp775Ala)
|
|
|
NM_001166108.2(PALLD):c.2338G>C (p.Glu780Gln)
|
rs2151263543
|
|
NM_001166108.2(PALLD):c.2347T>G (p.Tyr783Asp)
|
rs864622355
|
|
NM_001166108.2(PALLD):c.2362G>T (p.Val788Leu)
|
rs587780762
|
|
NM_001166108.2(PALLD):c.2392A>G (p.Met798Val)
|
|
|
NM_001166108.2(PALLD):c.2399T>C (p.Leu800Pro)
|
rs1298095064
|
|
NM_001166108.2(PALLD):c.2414T>C (p.Ile805Thr)
|
rs150764613
|
|
NM_001166108.2(PALLD):c.2428C>T (p.Pro810Ser)
|
|
|
NM_001166108.2(PALLD):c.2429C>A (p.Pro810Gln)
|
|
|
NM_001166108.2(PALLD):c.2438T>G (p.Phe813Cys)
|
rs1461519731
|
|
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val)
|
|
|
NM_001166108.2(PALLD):c.2477A>C (p.Tyr826Ser)
|
rs372470150
|
|
NM_001166108.2(PALLD):c.2491G>A (p.Gly831Arg)
|
|
|
NM_001166108.2(PALLD):c.2507C>G (p.Pro836Arg)
|
rs1464837952
|
|
NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn)
|
rs863224702
|
|
NM_001166108.2(PALLD):c.2516A>G (p.Asp839Gly)
|
|
|
NM_001166108.2(PALLD):c.2520C>A (p.His840Gln)
|
rs864622316
|
|
NM_001166108.2(PALLD):c.2524A>G (p.Thr842Ala)
|
rs1553973196
|
|
NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)
|
rs587780198
|
|
NM_001166108.2(PALLD):c.2530C>A (p.Gln844Lys)
|
rs1757056910
|
|
NM_001166108.2(PALLD):c.2531A>G (p.Gln844Arg)
|
|
|
NM_001166108.2(PALLD):c.2535A>T (p.Arg845Ser)
|
rs1757058174
|
|
NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val)
|
|
|
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn)
|
rs1380474191
|
|
NM_001166108.2(PALLD):c.2552G>T (p.Cys851Phe)
|
|
|
NM_001166108.2(PALLD):c.2576C>T (p.Thr859Ile)
|
rs864622388
|
|
NM_001166108.2(PALLD):c.2584G>C (p.Asp862His)
|
rs899774397
|
|
NM_001166108.2(PALLD):c.2622+3A>G
|
|
|
NM_001166108.2(PALLD):c.2669A>G (p.Gln890Arg)
|
|
|
NM_001166108.2(PALLD):c.2670A>C (p.Gln890His)
|
|
|
NM_001166108.2(PALLD):c.2674G>A (p.Gly892Ser)
|
rs1190472798
|
|
NM_001166108.2(PALLD):c.2675G>A (p.Gly892Asp)
|
rs863224703
|
|
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp)
|
rs772889018
|
|
NM_001166108.2(PALLD):c.2687G>A (p.Arg896Gln)
|
rs373500403
|
|
NM_001166108.2(PALLD):c.2696C>T (p.Ser899Leu)
|
|
|
NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr)
|
rs2151408223
|
|
NM_001166108.2(PALLD):c.2704C>A (p.Pro902Thr)
|
rs114673468
|
|
NM_001166108.2(PALLD):c.2708A>G (p.His903Arg)
|
|
|
NM_001166108.2(PALLD):c.2718-3A>C
|
|
|
NM_001166108.2(PALLD):c.2723G>C (p.Arg908Pro)
|
rs114171764
|
|
NM_001166108.2(PALLD):c.2747A>G (p.Asp916Gly)
|
|
|
NM_001166108.2(PALLD):c.2754T>A (p.Asn918Lys)
|
rs927644209
|
|
NM_001166108.2(PALLD):c.2785C>A (p.His929Asn)
|
|
|
NM_001166108.2(PALLD):c.2800C>T (p.Pro934Ser)
|
|
|
NM_001166108.2(PALLD):c.2803G>A (p.Gly935Arg)
|
rs2151424394
|
|
NM_001166108.2(PALLD):c.2804G>T (p.Gly935Val)
|
rs2151424408
|
|
NM_001166108.2(PALLD):c.2808T>A (p.Asp936Glu)
|
|
|
NM_001166108.2(PALLD):c.2810T>A (p.Leu937Gln)
|
rs1470434769
|
|
NM_001166108.2(PALLD):c.2810T>G (p.Leu937Arg)
|
rs1470434769
|
|
NM_001166108.2(PALLD):c.2815G>A (p.Val939Ile)
|
|
|
NM_001166108.2(PALLD):c.2818C>A (p.Gln940Lys)
|
|
|
NM_001166108.2(PALLD):c.2850+4A>C
|
|
|
NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu)
|
rs2126493927
|
|
NM_001166108.2(PALLD):c.2873A>C (p.Asp958Ala)
|
rs1761523394
|
|
NM_001166108.2(PALLD):c.2890G>C (p.Asp964His)
|
rs1490808015
|
|
NM_001166108.2(PALLD):c.2901C>G (p.Pro967=)
|
rs533269596
|
|
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu)
|
rs2126495446
|
|
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg)
|
|
|
NM_001166108.2(PALLD):c.2951A>G (p.His984Arg)
|
|
|
NM_001166108.2(PALLD):c.2981G>A (p.Arg994His)
|
rs1010581356
|
|
NM_001166108.2(PALLD):c.2983G>C (p.Asp995His)
|
rs751364707
|
|
NM_001166108.2(PALLD):c.2987C>T (p.Ala996Val)
|
rs190961769
|
|
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala)
|
|
|
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr)
|
rs1761543823
|
|
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln)
|
|
|
NM_001166108.2(PALLD):c.3046C>T (p.Leu1016Phe)
|
rs1761546367
|
|
NM_001166108.2(PALLD):c.3050T>C (p.Val1017Ala)
|
rs1560929667
|
|
NM_001166108.2(PALLD):c.3052G>A (p.Val1018Ile)
|
|
|
NM_001166108.2(PALLD):c.3059-6del
|
rs755470870
|
|
NM_001166108.2(PALLD):c.3090T>G (p.Ile1030Met)
|
rs767384375
|
|
NM_001166108.2(PALLD):c.3107C>T (p.Thr1036Ile)
|
rs1324020366
|
|
NM_001166108.2(PALLD):c.3112G>C (p.Val1038Leu)
|
rs1762161869
|
|
NM_001166108.2(PALLD):c.3139G>A (p.Glu1047Lys)
|
rs1202242941
|
|
NM_001166108.2(PALLD):c.3144_3145delinsCT (p.Arg1049Cys)
|
rs1762165732
|
|
NM_001166108.2(PALLD):c.3158T>C (p.Val1053Ala)
|
rs1582242284
|
|
NM_001166108.2(PALLD):c.3167C>T (p.Pro1056Leu)
|
|
|
NM_001166108.2(PALLD):c.3177T>A (p.Phe1059Leu)
|
rs778134231
|
|
NM_001166108.2(PALLD):c.3185A>C (p.Lys1062Thr)
|
rs1762171174
|
|
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val)
|
rs200399043
|
|
NM_001166108.2(PALLD):c.3226A>G (p.Met1076Val)
|
rs1582249226
|
|
NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser)
|
rs771679229
|
|
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu)
|
rs1553984987
|
|
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)
|
|
|
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met)
|
rs368806050
|
|
NM_001166108.2(PALLD):c.3335G>C (p.Cys1112Ser)
|
rs754236496
|
|
NM_001166108.2(PALLD):c.3338C>T (p.Thr1113Ile)
|
|
|
NM_001166108.2(PALLD):c.3344G>A (p.Arg1115Lys)
|
|
|
NM_001166108.2(PALLD):c.3349G>A (p.Asp1117Asn)
|
rs1389221540
|
|
NM_001166108.2(PALLD):c.574A>G (p.Ser192Gly)
|
rs1762575507
|
|
NM_001166108.2(PALLD):c.622A>G (p.Lys208Glu)
|
|
|
NM_001166108.2(PALLD):c.639C>A (p.Ala213=)
|
rs1762581096
|
|
NM_001166108.2(PALLD):c.721C>T (p.His241Tyr)
|
rs1490249027
|
|
NM_001166108.2(PALLD):c.908+3A>G
|
rs1762604026
|
|
NM_001166108.2(PALLD):c.946G>T (p.Asp316Tyr)
|
rs1477916241
|
|
NM_001166110.1(PALLD):c.640-?_960+?del
|
|
|
NM_001184900.3(CARD8):c.139A>G (p.Ser47Gly)
|
|
|
NM_001184900.3(CARD8):c.853G>T (p.Glu285Ter)
|
rs2146193028
|
|
NM_001190274.2(FBXO11):c.*906G>T
|
rs1572751620
|
|
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser)
|
rs1572806551
|
|
NM_001198800.3(ASCC1):c.778C>T (p.Arg260Cys)
|
|
|
NM_001199251.3(SGO1):c.1178C>G (p.Thr393Arg)
|
|
|
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)
|
|
|
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)
|
rs778590557
|
|
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)
|
rs770704003
|
|
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)
|
rs776363221
|
|
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)
|
rs1407334063
|
|
NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)
|
rs62077280
|
|
NM_001258282.3(LINGO2):c.-228+12976_-227-20514del
|
|
|
NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr)
|
rs1598364148
|
|
NM_001289104.2(PRKCSH):c.*150C>T
|
rs886054200
|
|
NM_001289104.2(PRKCSH):c.1196+6G>T
|
rs958262771
|
|
NM_001289104.2(PRKCSH):c.1204G>A (p.Glu402Lys)
|
rs886054199
|
|
NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=)
|
rs1970436642
|
|
NM_001289104.2(PRKCSH):c.234C>T (p.Thr78=)
|
rs766897286
|
|
NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=)
|
rs780423740
|
|
NM_001289104.2(PRKCSH):c.404G>T (p.Arg135Leu)
|
rs886054197
|
|
NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile)
|
rs1423831684
|
|
NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr)
|
rs149258999
|
|
NM_001289104.2(PRKCSH):c.888C>T (p.Asp296=)
|
rs1970365646
|
|
NM_001289104.2(PRKCSH):c.988G>A (p.Glu330Lys)
|
rs1397015529
|
|
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile)
|
rs73547308
|
|
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
|
rs140892695
|
|
NM_001318789.2(TLR2):c.301del (p.Ser101fs)
|
|
|
NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)
|
rs1602147382
|
|
NM_001348946.2(ABCB1):c.3547C>T (p.Arg1183Cys)
|
rs199676098
|
|
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=)
|
rs1045303
|
|
NM_001354630.2(MLH1):c.1732-998_1732-996del
|
|
|
NM_001366110.1(PAX4):c.*474_*477dup
|
rs1554403669
|
|
NM_001366110.1(PAX4):c.*492_*497del
|
rs886061966
|
|
NM_001366110.1(PAX4):c.*494AC[11]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[13]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[14]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*514_*521delinsTGAT
|
rs886061965
|
|
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT
|
rs886061964
|
|
NM_001366110.1(PAX4):c.*66C>T
|
rs886061967
|
|
NM_001366110.1(PAX4):c.*722T>C
|
rs759186282
|
|
NM_001366110.1(PAX4):c.-101_-100+2del
|
|
|
NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr)
|
rs1057524894
|
|
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)
|
rs112061448
|
|
NM_001366110.1(PAX4):c.225C>G (p.Ser75Arg)
|
|
|
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu)
|
rs886061969
|
|
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)
|
|
|
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)
|
rs1554404073
|
|
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)
|
|
|
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)
|
|
|
NM_001366110.1(PAX4):c.772-13dup
|
rs35434068
|
|
NM_001366110.1(PAX4):c.772-3del
|
rs35434068
|
|
NM_001366110.1(PAX4):c.779dup (p.Gly261fs)
|
rs536677108
|
|
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)
|
rs886061968
|
|
NM_001367949.2(FAT3):c.6916G>A (p.Val2306Ile)
|
rs863223333
|
|
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.-8-1G>C
|
|
|
NM_001370466.1(NOD2):c.-8-2166A>G
|
|
|
NM_001370466.1(NOD2):c.-8-2173G>A
|
|
|
NM_001370466.1(NOD2):c.-8-2184G>A
|
rs771671839
|
|
NM_001370466.1(NOD2):c.-8-2184G>T
|
|
|
NM_001370466.1(NOD2):c.-8-2193G>A
|
rs886052043
|
|
NM_001370466.1(NOD2):c.-8-2202A>G
|
rs1963694151
|
|
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup
|
rs2150776605
|
|
NM_001370466.1(NOD2):c.-8-2208G>A
|
rs2150776587
|
|
NM_001370466.1(NOD2):c.-8-2213A>T
|
|
|
NM_001370466.1(NOD2):c.-8-2214G>A
|
|
|
NM_001370466.1(NOD2):c.-8-2219C>T
|
|
|
NM_001370466.1(NOD2):c.-8G>C
|
|
|
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro)
|
rs1964452487
|
|
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
|
|
|
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp)
|
rs1964456255
|
|
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
|
|
|
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
|
|
|
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
|
|
|
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
|
|
|
NM_001370466.1(NOD2):c.1112C>A (p.Thr371Asn)
|
|
|
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile)
|
rs1964461594
|
|
NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)
|
|
|
NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)
|
|
|
NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)
|
|
|
NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)
|
|
|
NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)
|
|
|
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser)
|
rs104895429
|
|
NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)
|
|
|
NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val)
|
|
|
NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)
|
|
|
NM_001370466.1(NOD2):c.1188G>A (p.Val396=)
|
rs77966199
|
|
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn)
|
rs1596864349
|
|
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr)
|
rs1964470443
|
|
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser)
|
rs2150809796
|
|
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
|
|
|
NM_001370466.1(NOD2):c.1247A>G (p.Asn416Ser)
|
|
|
NM_001370466.1(NOD2):c.1253del (p.Lys418fs)
|
|
|
NM_001370466.1(NOD2):c.1271G>A (p.Gly424Asp)
|
rs1249578378
|
|
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)
|
|
|
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
|
|
|
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp)
|
rs104895492
|
|
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser)
|
rs769988393
|
|
NM_001370466.1(NOD2):c.1331G>A (p.Arg444His)
|
|
|
NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu)
|
rs764414933
|
|
NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys)
|
|
|
NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp)
|
rs1964484718
|
|
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn)
|
rs1567392113
|
|
NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter)
|
|
|
NM_001370466.1(NOD2):c.1352C>T (p.Ala451Val)
|
rs2150810483
|
|
NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)
|
|
|
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
|
|
|
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp)
|
rs1964489081
|
|
NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)
|
|
|
NM_001370466.1(NOD2):c.1397C>T (p.Ser466Phe)
|
|
|
NM_001370466.1(NOD2):c.1402T>G (p.Cys468Gly)
|
rs2150810748
|
|
NM_001370466.1(NOD2):c.1406A>G (p.His469Arg)
|
rs104895472
|
|
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter)
|
rs1964491198
|
|
NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)
|
|
|
NM_001370466.1(NOD2):c.1429G>T (p.Gly477Trp)
|
|
|
NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)
|
|
|
NM_001370466.1(NOD2):c.1434del (p.Ser479fs)
|
rs754761524
|
|
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs)
|
rs754761524
|
|
NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)
|
|
|
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn)
|
rs773580517
|
|
NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)
|
|
|
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter)
|
rs1964496675
|
|
NM_001370466.1(NOD2):c.1499C>A (p.Pro500His)
|
|
|
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
|
|
|
NM_001370466.1(NOD2):c.1502C>A (p.Pro501Gln)
|
rs773811702
|
|
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)
|
rs1328584012
|
|
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
|
|
|
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
|
|
|
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His)
|
rs1567392735
|
|
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu)
|
rs1567392735
|
|
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His)
|
rs772534917
|
|
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
|
|
|
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu)
|
rs777949388
|
|
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
|
|
|
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro)
|
rs762186831
|
|
NM_001370466.1(NOD2):c.1564C>A (p.His522Asn)
|
rs1964506383
|
|
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val)
|
rs104895471
|
|
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
|
|
|
NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)
|
|
|
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del)
|
rs104895436
|
|
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu)
|
rs908511039
|
|
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu)
|
rs1264862631
|
|
NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)
|
|
|
NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val)
|
|
|
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
|
|
|
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
|
|
|
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe)
|
rs1964520847
|
|
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
|
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
|
|
|
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
|
|
|
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
|
|
|
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val)
|
rs867131858
|
|
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
|
|
|
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs)
|
rs745991254
|
|
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly)
|
rs1964529815
|
|
NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)
|
|
|
NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)
|
|
|
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr)
|
rs1228502653
|
|
NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met)
|
|
|
NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)
|
|
|
NM_001370466.1(NOD2):c.1863C>G (p.Cys621Trp)
|
|
|
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu)
|
rs1484221771
|
|
NM_001370466.1(NOD2):c.186G>A (p.Leu62=)
|
rs1963838182
|
|
NM_001370466.1(NOD2):c.1874C>T (p.Ser625Leu)
|
|
|
NM_001370466.1(NOD2):c.1886A>T (p.Asp629Val)
|
rs2150812781
|
|
NM_001370466.1(NOD2):c.1891A>G (p.Ser631Gly)
|
|
|
NM_001370466.1(NOD2):c.1915G>A (p.Ala639Thr)
|
|
|
NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met)
|
|
|
NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)
|
|
|
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe)
|
rs187264529
|
|
NM_001370466.1(NOD2):c.1949T>C (p.Phe650Ser)
|
rs2150813115
|
|
NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)
|
|
|
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly)
|
rs5743277
|
|
NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu)
|
|
|
NM_001370466.1(NOD2):c.202A>G (p.Lys68Glu)
|
rs2150781997
|
|
NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser)
|
|
|
NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys)
|
|
|
NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)
|
|
|
NM_001370466.1(NOD2):c.2042G>T (p.Arg681Leu)
|
rs35285618
|
|
NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu)
|
|
|
NM_001370466.1(NOD2):c.2079C>A (p.His693Gln)
|
|
|
NM_001370466.1(NOD2):c.208A>G (p.Thr70Ala)
|
|
|
NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)
|
|
|
NM_001370466.1(NOD2):c.2098C>T (p.Pro700Ser)
|
rs1338599093
|
|
NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln)
|
|
|
NM_001370466.1(NOD2):c.2101G>A (p.Gly701Ser)
|
rs1964553940
|
|
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
|
|
|
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
|
|
|
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
|
|
|
NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr)
|
|
|
NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)
|
|
|
NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)
|
|
|
NM_001370466.1(NOD2):c.2156T>C (p.Leu719Pro)
|
|
|
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His)
|
rs2150814130
|
|
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
|
|
|
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly)
|
rs1964561689
|
|
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu)
|
rs375713299
|
|
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe)
|
rs1266638330
|
|
NM_001370466.1(NOD2):c.2230T>A (p.Phe744Ile)
|
|
|
NM_001370466.1(NOD2):c.2237G>A (p.Ser746Asn)
|
|
|
NM_001370466.1(NOD2):c.2243G>A (p.Gly748Asp)
|
|
|
NM_001370466.1(NOD2):c.2245C>T (p.Pro749Ser)
|
rs1264795843
|
|
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn)
|
rs756184386
|
|
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
|
|
|
NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val)
|
|
|
NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly)
|
|
|
NM_001370466.1(NOD2):c.2276T>G (p.Leu759Arg)
|
rs2150814646
|
|
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg)
|
rs1964571054
|
|
NM_001370466.1(NOD2):c.2297T>G (p.Val766Gly)
|
rs1200152449
|
|
NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His)
|
|
|
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met)
|
rs1964574298
|
|
NM_001370466.1(NOD2):c.2336G>T (p.Gly779Val)
|
rs2150814954
|
|
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=)
|
rs199475916
|
|
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val)
|
rs1964577394
|
|
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
|
|
|
NM_001370466.1(NOD2):c.2382-14T>G
|
rs2150823709
|
|
NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser)
|
|
|
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)
|
rs765335094
|
|
NM_001370466.1(NOD2):c.2414T>C (p.Ile805Thr)
|
rs2150823869
|
|
NM_001370466.1(NOD2):c.2418C>T (p.Cys806=)
|
|
|
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln)
|
rs1964807205
|
|
NM_001370466.1(NOD2):c.241C>T (p.Gln81Ter)
|
|
|
NM_001370466.1(NOD2):c.2458_2460del (p.Lys820del)
|
rs2150823997
|
|
NM_001370466.1(NOD2):c.2466-12G>A
|
rs2150824449
|
|
NM_001370466.1(NOD2):c.2466-8C>G
|
rs1178978578
|
|
NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro)
|
|
|
NM_001370466.1(NOD2):c.2491G>A (p.Gly831Ser)
|
|
|
NM_001370466.1(NOD2):c.2495G>A (p.Cys832Tyr)
|
|
|
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs)
|
rs1555500626
|
|
NM_001370466.1(NOD2):c.2501A>C (p.His834Pro)
|
rs763542516
|
|
NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro)
|
|
|
NM_001370466.1(NOD2):c.2515C>G (p.Leu839Val)
|
rs1000799073
|
|
NM_001370466.1(NOD2):c.2518C>T (p.Leu840Phe)
|
|
|
NM_001370466.1(NOD2):c.2521G>A (p.Ala841Thr)
|
|
|
NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe)
|
rs749157324
|
|
NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)
|
|
|
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)
|
rs886052044
|
|
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
|
|
|
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
|
|
|
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
|
|
|
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
|
|
|
NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln)
|
|
|
NM_001370466.1(NOD2):c.2610C>T (p.Gly870=)
|
|
|
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
|
|
|
NM_001370466.1(NOD2):c.2625G>T (p.Gln875His)
|
rs200428513
|
|
NM_001370466.1(NOD2):c.262C>T (p.Gln88Ter)
|
rs2150782258
|
|
NM_001370466.1(NOD2):c.2633+3A>C
|
rs767535551
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly)
|
|
|
NM_001370466.1(NOD2):c.2648G>C (p.Arg883Thr)
|
rs1354091032
|
|
NM_001370466.1(NOD2):c.2665G>A (p.Ala889Thr)
|
|
|
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser)
|
rs769395722
|
|
NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser)
|
|
|
NM_001370466.1(NOD2):c.2689G>A (p.Gly897Ser)
|
rs2150833269
|
|
NM_001370466.1(NOD2):c.2697C>G (p.His899Gln)
|
rs1242042498
|
|
NM_001370466.1(NOD2):c.2726G>A (p.Gly909Glu)
|
rs542558237
|
|
NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)
|
|
|
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter)
|
rs1394622344
|
|
NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile)
|
|
|
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly)
|
rs1555501675
|
|
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp)
|
rs1187029221
|
|
NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)
|
|
|
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile)
|
rs104895455
|
|
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
|
|
|
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro)
|
rs1965233783
|
|
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
|
|
|
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val)
|
rs1337759230
|
|
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe)
|
rs2150836993
|
|
NM_001370466.1(NOD2):c.2885+12A>G
|
rs751255487
|
|
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=)
|
rs1965389837
|
|
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)
|
rs1567407613
|
|
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala)
|
rs1238071864
|
|
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
|
|
|
NM_001370466.1(NOD2):c.292C>T (p.Pro98Ser)
|
rs1963848568
|
|
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)
|
rs771490210
|
|
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
|
|
|
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr)
|
rs2150843373
|
|
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
|
|
|
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly)
|
rs104895491
|
|
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln)
|
rs5743295
|
|
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu)
|
rs5743295
|
|
NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)
|
|
|
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile)
|
rs1340958111
|
|
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
|
|
|
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn)
|
rs2150846563
|
|
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
|
|
|
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
|
|
|
NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly)
|
rs903928432
|
|
NM_001370466.1(NOD2):c.325_326del (p.His110fs)
|
rs1567381106
|
|
NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn)
|
rs1567380395
|
|
NM_001370466.1(NOD2):c.373A>G (p.Met125Val)
|
rs2150782623
|
|
NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)
|
|
|
NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)
|
|
|
NM_001370466.1(NOD2):c.383T>G (p.Leu128Arg)
|
rs148753593
|
|
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
|
|
|
NM_001370466.1(NOD2):c.40C>G (p.Leu14Val)
|
rs761191478
|
|
NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly)
|
|
|
NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)
|
|
|
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu)
|
rs1963826129
|
|
NM_001370466.1(NOD2):c.448C>G (p.Pro150Ala)
|
rs1356803976
|
|
NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)
|
|
|
NM_001370466.1(NOD2):c.458G>A (p.Arg153Lys)
|
rs1259750235
|
|
NM_001370466.1(NOD2):c.459+1G>A
|
rs1425704084
|
|
NM_001370466.1(NOD2):c.459+3G>T
|
rs1384904015
|
|
NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly)
|
|
|
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser)
|
rs1964272038
|
|
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
|
|
|
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
|
|
|
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
|
|
|
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser)
|
rs771887760
|
|
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)
|
rs1964416023
|
|
NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)
|
|
|
NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala)
|
rs758548184
|
|
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys)
|
rs1001861018
|
|
NM_001370466.1(NOD2):c.664G>A (p.Glu222Lys)
|
|
|
NM_001370466.1(NOD2):c.667G>A (p.Asp223Asn)
|
|
|
NM_001370466.1(NOD2):c.670A>G (p.Ile224Val)
|
|
|
NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)
|
|
|
NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)
|
|
|
NM_001370466.1(NOD2):c.706G>A (p.Val236Met)
|
rs756042160
|
|
NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)
|
|
|
NM_001370466.1(NOD2):c.712A>T (p.Met238Leu)
|
rs1964425967
|
|
NM_001370466.1(NOD2):c.715del (p.Ala239fs)
|
rs772914954
|
|
NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)
|
|
|
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
|
|
|
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
|
|
|
NM_001370466.1(NOD2):c.747G>A (p.Leu249=)
|
rs763504952
|
|
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
|
|
|
NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)
|
|
|
NM_001370466.1(NOD2):c.781del (p.Leu261fs)
|
rs1964431434
|
|
NM_001370466.1(NOD2):c.782T>C (p.Leu261Pro)
|
|
|
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu)
|
rs149338478
|
|
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
|
|
|
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
|
|
|
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
|
|
|
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
|
|
|
NM_001370466.1(NOD2):c.824del (p.Gly275fs)
|
rs2150808087
|
|
NM_001370466.1(NOD2):c.856C>T (p.His286Tyr)
|
rs1462834850
|
|
NM_001370466.1(NOD2):c.868dup (p.Ala290fs)
|
rs2150808264
|
|
NM_001370466.1(NOD2):c.899_900del (p.Phe300fs)
|
|
|
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp)
|
rs768775316
|
|
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu)
|
rs768775316
|
|
NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)
|
|
|
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly)
|
rs774016655
|
|
NM_001370466.1(NOD2):c.953T>C (p.Val318Ala)
|
|
|
NM_001370466.1(NOD2):c.963A>G (p.Leu321=)
|
rs2150808670
|
|
NM_001370466.1(NOD2):c.973C>T (p.His325Tyr)
|
|
|
NM_001370466.1(NOD2):c.979T>C (p.Cys327Arg)
|
|
|
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly)
|
rs104895469
|
|
NM_001370466.1(NOD2):c.992T>G (p.Val331Gly)
|
rs2150808820
|
|
NM_001370466.1(NOD2):c.995G>A (p.Gly332Asp)
|
|
|
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
|
|
|
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
|
|
|
NM_001371395.1(USP53):c.372+3_372+6del
|
rs773537048
|
|
NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)
|
|
|
NM_001374385.1(ATP8B1):c.*102G>T
|
rs886054008
|
|
NM_001374385.1(ATP8B1):c.*1243T>C
|
rs571338678
|
|
NM_001374385.1(ATP8B1):c.*1333T>G
|
rs1909226700
|
|
NM_001374385.1(ATP8B1):c.*1796G>A
|
rs747148347
|
|
NM_001374385.1(ATP8B1):c.*1833G>A
|
rs574070627
|
|
NM_001374385.1(ATP8B1):c.*212T>C
|
rs886054007
|
|
NM_001374385.1(ATP8B1):c.*261G>C
|
rs1909307752
|
|
NM_001374385.1(ATP8B1):c.*292C>A
|
rs1599059993
|
|
NM_001374385.1(ATP8B1):c.*440C>T
|
rs867751351
|
|
NM_001374385.1(ATP8B1):c.*467G>A
|
rs1909290314
|
|
NM_001374385.1(ATP8B1):c.*646G>C
|
rs886054006
|
|
NM_001374385.1(ATP8B1):c.*649C>A
|
rs1288737685
|
|
NM_001374385.1(ATP8B1):c.*651T>C
|
rs886054005
|
|
NM_001374385.1(ATP8B1):c.*694T>C
|
rs886054004
|
|
NM_001374385.1(ATP8B1):c.*727A>C
|
rs776278990
|
|
NM_001374385.1(ATP8B1):c.*735T>G
|
rs561633356
|
|
NM_001374385.1(ATP8B1):c.*741A>G
|
rs970265600
|
|
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile)
|
rs1484507624
|
|
NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)
|
|
|
NM_001374385.1(ATP8B1):c.1473+2T>C
|
rs1568195257
|
|
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu)
|
rs886054011
|
|
NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT
|
rs1568187066
|
|
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
|
|
|
NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=)
|
rs764984556
|
|
NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln)
|
rs145214384
|
|
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn)
|
rs1599090593
|
|
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)
|
rs540027832
|
|
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=)
|
rs886054009
|
|
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro)
|
rs1909527634
|
|
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)
|
rs946672182
|
|
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly)
|
rs886054014
|
|
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln)
|
rs780703474
|
|
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met)
|
rs1449849281
|
|
NM_001374385.1(ATP8B1):c.782-5A>T
|
rs886054013
|
|
NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter)
|
rs1586153937
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001378454.1(ALMS1):c.12092C>A (p.Pro4031Gln)
|
rs753052003
|
|
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser)
|
rs1349884233
|
|
NM_001379610.1(SPINK1):c.*77del
|
rs886060089
|
|
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
|
|
|
NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)
|
|
|
NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile)
|
rs200142833
|
|
NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His)
|
rs2127133850
|
|
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys)
|
rs1561605311
|
|
NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup)
|
rs878854607
|
|
NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)
|
|
|
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp)
|
rs1379675813
|
|
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
|
|
|
NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)
|
|
|
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys)
|
rs1756441667
|
|
NM_001379610.1(SPINK1):c.16A>T (p.Ile6Phe)
|
|
|
NM_001379610.1(SPINK1):c.170A>G (p.Glu57Gly)
|
|
|
NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)
|
|
|
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
|
|
|
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly)
|
rs1223176202
|
|
NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)
|
|
|
NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)
|
|
|
NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)
|
|
|
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro)
|
rs749558779
|
|
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe)
|
rs982462613
|
|
NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)
|
|
|
NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)
|
|
|
NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)
|
|
|
NM_001379610.1(SPINK1):c.232C>T (p.Pro78Ser)
|
|
|
NM_001379610.1(SPINK1):c.235T>G (p.Cys79Gly)
|
|
|
NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)
|
|
|
NM_001379610.1(SPINK1):c.237C>A (p.Cys79Ter)
|
|
|
NM_001379610.1(SPINK1):c.23T>C (p.Leu8Pro)
|
|
|
NM_001379610.1(SPINK1):c.25C>G (p.Leu9Val)
|
|
|
NM_001379610.1(SPINK1):c.26T>C (p.Leu9Pro)
|
|
|
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
|
|
|
NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)
|
|
|
NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)
|
|
|
NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)
|
|
|
NM_001379610.1(SPINK1):c.40C>G (p.Leu14Val)
|
|
|
NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)
|
|
|
NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)
|
|
|
NM_001379610.1(SPINK1):c.55+5G>A
|
rs879076423
|
|
NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)
|
|
|
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
|
|
|
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
|
|
|
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
|
|
|
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
|
|
|
NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)
|
|
|
NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu)
|
rs769727763
|
|
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)
|
|
|
NM_001379610.1(SPINK1):c.84A>T (p.Arg28Ser)
|
|
|
NM_001379610.1(SPINK1):c.87+6G>C
|
rs1554089890
|
|
NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)
|
|
|
NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys)
|
rs1580396270
|
|
NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn)
|
rs1589906631
|
|
NM_001386140.1(MTTP):c.*1003T>C
|
rs796899519
|
|
NM_001386140.1(MTTP):c.*1044G>T
|
rs886058965
|
|
NM_001386140.1(MTTP):c.*219G>A
|
rs1358012798
|
|
NM_001386140.1(MTTP):c.*41A>G
|
rs886058959
|
|
NM_001386140.1(MTTP):c.*434G>A
|
rs1358561776
|
|
NM_001386140.1(MTTP):c.*454dup
|
rs545365701
|
|
NM_001386140.1(MTTP):c.*474T>C
|
rs960894922
|
|
NM_001386140.1(MTTP):c.*517A>T
|
rs886058964
|
|
NM_001386140.1(MTTP):c.*55G>C
|
rs192882987
|
|
NM_001386140.1(MTTP):c.*82G>A
|
rs886058960
|
|
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)
|
rs137956833
|
|
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
|
|
|
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)
|
rs757598679
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)
|
rs2110230166
|
|
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)
|
rs1368249156
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln)
|
rs746293101
|
|
NM_001386140.1(MTTP):c.1868-6C>T
|
rs772185759
|
|
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
|
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=)
|
rs1578257313
|
|
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys)
|
rs1726222895
|
|
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)
|
rs1272679414
|
|
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)
|
rs2110239476
|
|
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)
|
rs1726272076
|
|
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
|
|
|
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)
|
rs867316992
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.543T>G (p.His181Gln)
|
rs150319930
|
|
NM_001386140.1(MTTP):c.759G>A (p.Lys253=)
|
rs1725509234
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val)
|
rs1565279367
|
|
NM_001388308.1(KIF12):c.704A>G (p.His235Arg)
|
|
|
NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)
|
rs1601280227
|
|
NM_001395413.1(POR):c.1222T>C (p.Ser408Pro)
|
rs781842238
|
|
NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met)
|
rs1581659572
|
|
NM_001406801.1(MSH6):c.3705-4dup
|
rs1670207159
|
|
NM_001406801.1(MSH6):c.3705-5_3705-1dup
|
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)
|
rs752065194
|
|
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.1064T>A (p.Val355Glu)
|
|
|
NM_001558.4(IL10RA):c.1091G>A (p.Ser364Asn)
|
|
|
NM_001558.4(IL10RA):c.1093A>G (p.Ser365Gly)
|
|
|
NM_001558.4(IL10RA):c.1108A>T (p.Ser370Cys)
|
rs2134996112
|
|
NM_001558.4(IL10RA):c.1111G>A (p.Gly371Arg)
|
rs1591266329
|
|
NM_001558.4(IL10RA):c.1141C>T (p.Pro381Ser)
|
|
|
NM_001558.4(IL10RA):c.1169A>T (p.Gln390Leu)
|
rs1591266369
|
|
NM_001558.4(IL10RA):c.1183A>G (p.Ser395Gly)
|
|
|
NM_001558.4(IL10RA):c.1240G>A (p.Gly414Arg)
|
|
|
NM_001558.4(IL10RA):c.1247C>G (p.Thr416Arg)
|
rs200254237
|
|
NM_001558.4(IL10RA):c.1253G>A (p.Gly418Asp)
|
rs2134996550
|
|
NM_001558.4(IL10RA):c.1270C>A (p.His424Asn)
|
|
|
NM_001558.4(IL10RA):c.1309G>A (p.Asp437Asn)
|
rs199688187
|
|
NM_001558.4(IL10RA):c.1318G>A (p.Ala440Thr)
|
rs779845571
|
|
NM_001558.4(IL10RA):c.1318G>T (p.Ala440Ser)
|
rs779845571
|
|
NM_001558.4(IL10RA):c.1324G>T (p.Ala442Ser)
|
|
|
NM_001558.4(IL10RA):c.1336T>A (p.Tyr446Asn)
|
rs763134422
|
|
NM_001558.4(IL10RA):c.13C>T (p.Leu5Phe)
|
|
|
NM_001558.4(IL10RA):c.1400C>T (p.Ser467Leu)
|
rs1327527158
|
|
NM_001558.4(IL10RA):c.1409C>G (p.Thr470Arg)
|
|
|
NM_001558.4(IL10RA):c.140C>G (p.Pro47Arg)
|
|
|
NM_001558.4(IL10RA):c.1458C>T (p.Gly486=)
|
rs1391016354
|
|
NM_001558.4(IL10RA):c.1495C>T (p.Gln499Ter)
|
rs2058078603
|
|
NM_001558.4(IL10RA):c.1502C>T (p.Pro501Leu)
|
|
|
NM_001558.4(IL10RA):c.150T>G (p.Asn50Lys)
|
|
|
NM_001558.4(IL10RA):c.1534C>T (p.Pro512Ser)
|
rs568445118
|
|
NM_001558.4(IL10RA):c.155C>G (p.Ser52Cys)
|
|
|
NM_001558.4(IL10RA):c.1567T>C (p.Trp523Arg)
|
|
|
NM_001558.4(IL10RA):c.158A>C (p.Glu53Ala)
|
rs2134981745
|
|
NM_001558.4(IL10RA):c.1590C>G (p.Ser530Arg)
|
rs2134997313
|
|
NM_001558.4(IL10RA):c.1594A>G (p.Ser532Gly)
|
|
|
NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr)
|
rs772899933
|
|
NM_001558.4(IL10RA):c.1624G>T (p.Ala542Ser)
|
rs1256749577
|
|
NM_001558.4(IL10RA):c.1669C>T (p.Leu557Phe)
|
|
|
NM_001558.4(IL10RA):c.1685A>T (p.Asn562Ile)
|
|
|
NM_001558.4(IL10RA):c.1699A>C (p.Thr567Pro)
|
rs1447881842
|
|
NM_001558.4(IL10RA):c.1707C>T (p.Pro569=)
|
rs2058080759
|
|
NM_001558.4(IL10RA):c.1715C>G (p.Ser572Cys)
|
|
|
NM_001558.4(IL10RA):c.1729A>T (p.Ser577Cys)
|
rs2134997563
|
|
NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly)
|
|
|
NM_001558.4(IL10RA):c.20T>A (p.Val7Glu)
|
rs2057986809
|
|
NM_001558.4(IL10RA):c.25C>T (p.Leu9=)
|
rs886047706
|
|
NM_001558.4(IL10RA):c.284G>T (p.Gly95Val)
|
|
|
NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter)
|
rs886047709
|
|
NM_001558.4(IL10RA):c.307G>C (p.Val103Leu)
|
|
|
NM_001558.4(IL10RA):c.362A>T (p.Asp121Val)
|
|
|
NM_001558.4(IL10RA):c.367+4C>T
|
rs768106799
|
|
NM_001558.4(IL10RA):c.37C>T (p.Leu13Phe)
|
rs2057987183
|
|
NM_001558.4(IL10RA):c.401T>C (p.Ile134Thr)
|
|
|
NM_001558.4(IL10RA):c.416T>A (p.Ile139Asn)
|
rs775703417
|
|
NM_001558.4(IL10RA):c.426G>C (p.Lys142Asn)
|
rs1487076003
|
|
NM_001558.4(IL10RA):c.447G>T (p.Lys149Asn)
|
rs750580462
|
|
NM_001558.4(IL10RA):c.44T>C (p.Leu15Pro)
|
|
|
NM_001558.4(IL10RA):c.452C>G (p.Ala151Gly)
|
|
|
NM_001558.4(IL10RA):c.464A>G (p.Asp155Gly)
|
|
|
NM_001558.4(IL10RA):c.46C>T (p.Arg16Cys)
|
rs748428395
|
|
NM_001558.4(IL10RA):c.47G>C (p.Arg16Pro)
|
rs75769905
|
|
NM_001558.4(IL10RA):c.494G>A (p.Arg165Gln)
|
|
|
NM_001558.4(IL10RA):c.530A>G (p.Asn177Ser)
|
rs2058037125
|
|
NM_001558.4(IL10RA):c.559_579dup (p.His187_Leu193dup)
|
rs781485945
|
|
NM_001558.4(IL10RA):c.580A>T (p.Thr194Ser)
|
rs2058040889
|
|
NM_001558.4(IL10RA):c.592G>A (p.Val198Met)
|
|
|
NM_001558.4(IL10RA):c.632C>T (p.Ser211Phe)
|
rs143645358
|
|
NM_001558.4(IL10RA):c.635G>A (p.Arg212Gln)
|
|
|
NM_001558.4(IL10RA):c.646G>A (p.Gly216Arg)
|
|
|
NM_001558.4(IL10RA):c.65A>C (p.His22Pro)
|
rs1249233978
|
|
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_001558.4(IL10RA):c.670A>T (p.Ile224Phe)
|
rs2228055
|
|
NM_001558.4(IL10RA):c.687G>C (p.Gln229His)
|
|
|
NM_001558.4(IL10RA):c.688T>C (p.Tyr230His)
|
|
|
NM_001558.4(IL10RA):c.697G>T (p.Val233Leu)
|
rs41354146
|
|
NM_001558.4(IL10RA):c.700A>G (p.Thr234Ala)
|
rs551546135
|
|
NM_001558.4(IL10RA):c.703A>G (p.Asn235Asp)
|
|
|
NM_001558.4(IL10RA):c.71C>A (p.Thr24Lys)
|
|
|
NM_001558.4(IL10RA):c.736C>T (p.Leu246Phe)
|
|
|
NM_001558.4(IL10RA):c.742G>A (p.Gly248Arg)
|
|
|
NM_001558.4(IL10RA):c.746C>A (p.Ala249Asp)
|
rs1325062418
|
|
NM_001558.4(IL10RA):c.782G>A (p.Arg261Gln)
|
|
|
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)
|
|
|
NM_001558.4(IL10RA):c.802A>G (p.Ser268Gly)
|
rs2058051810
|
|
NM_001558.4(IL10RA):c.810+6T>A
|
rs2134991742
|
|
NM_001558.4(IL10RA):c.846C>A (p.Ser282Arg)
|
|
|
NM_001558.4(IL10RA):c.859C>G (p.Pro287Ala)
|
|
|
NM_001558.4(IL10RA):c.873C>G (p.Asp291Glu)
|
rs2134995540
|
|
NM_001558.4(IL10RA):c.874A>G (p.Thr292Ala)
|
|
|
NM_001558.4(IL10RA):c.887T>C (p.Leu296Pro)
|
|
|
NM_001558.4(IL10RA):c.8C>G (p.Pro3Arg)
|
rs56008037
|
|
NM_001558.4(IL10RA):c.910G>A (p.Val304Met)
|
rs1179563256
|
|
NM_001558.4(IL10RA):c.922C>A (p.Leu308Met)
|
rs1213121269
|
|
NM_001613.4(ACTA2):c.*104C>G
|
rs956182522
|
|
NM_001613.4(ACTA2):c.*122T>C
|
rs886047451
|
|
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)
|
rs794728034
|
|
NM_001613.4(ACTA2):c.129+4A>G
|
rs1390177518
|
|
NM_001613.4(ACTA2):c.24T>G (p.Thr8=)
|
rs1589400483
|
|
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)
|
rs886038789
|
|
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)
|
rs1845848773
|
|
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)
|
rs1053760032
|
|
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)
|
rs141538225
|
|
NM_001615.4(ACTG2):c.1031G>C (p.Gly344Ala)
|
rs1680334812
|
|
NM_001615.4(ACTG2):c.123C>A (p.His41Gln)
|
rs774409368
|
|
NM_001615.4(ACTG2):c.131T>A (p.Val44Glu)
|
|
|
NM_001615.4(ACTG2):c.178C>G (p.Gln60Glu)
|
rs2104807609
|
|
NM_001615.4(ACTG2):c.255+210C>G
|
rs768290597
|
|
NM_001615.4(ACTG2):c.359T>C (p.Met120Thr)
|
rs2104815484
|
|
NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg)
|
rs1680075415
|
|
NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp)
|
rs1680222160
|
|
NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr)
|
rs1553394796
|
|
NM_001615.4(ACTG2):c.981G>T (p.Lys327Asn)
|
rs2104825219
|
|
NM_001615.4(ACTG2):c.985A>C (p.Lys329Gln)
|
|
|
NM_001626.6(AKT2):c.1032G>A (p.Met344Ile)
|
|
|
NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)
|
|
|
NM_001626.6(AKT2):c.1040G>A (p.Arg347His)
|
|
|
NM_001626.6(AKT2):c.1090A>G (p.Met364Val)
|
|
|
NM_001626.6(AKT2):c.1286A>G (p.Gln429Arg)
|
rs1399189737
|
|
NM_001626.6(AKT2):c.136G>A (p.Asp46Asn)
|
rs1975583524
|
|
NM_001626.6(AKT2):c.173C>T (p.Ala58Val)
|
rs2145306024
|
|
NM_001626.6(AKT2):c.175+13A>G
|
|
|
NM_001626.6(AKT2):c.208C>G (p.Pro70Ala)
|
rs1170693725
|
|
NM_001626.6(AKT2):c.282C>G (p.Asp94Glu)
|
rs139125633
|
|
NM_001626.6(AKT2):c.283G>A (p.Glu95Lys)
|
|
|
NM_001626.6(AKT2):c.380C>T (p.Pro127Leu)
|
|
|
NM_001626.6(AKT2):c.401A>C (p.Glu134Ala)
|
|
|
NM_001626.6(AKT2):c.416C>T (p.Ala139Val)
|
|
|
NM_001626.6(AKT2):c.427G>A (p.Ala143Thr)
|
rs2145207525
|
|
NM_001626.6(AKT2):c.430C>T (p.Arg144Trp)
|
|
|
NM_001626.6(AKT2):c.438A>G (p.Lys146=)
|
|
|
NM_001626.6(AKT2):c.44G>A (p.Arg15His)
|
rs1976263420
|
|
NM_001626.6(AKT2):c.527G>T (p.Arg176Leu)
|
|
|
NM_001626.6(AKT2):c.572A>G (p.Lys191Arg)
|
|
|
NM_001626.6(AKT2):c.576T>G (p.Asp192Glu)
|
|
|
NM_001626.6(AKT2):c.641C>T (p.Ala214Val)
|
|
|
NM_001626.6(AKT2):c.709-3C>G
|
|
|
NM_001626.6(AKT2):c.709-3C>T
|
|
|
NM_001626.6(AKT2):c.960+3G>T
|
rs56165898
|
|
NM_001626.6(AKT2):c.961-2dup
|
|
|
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)
|
rs8192466
|
|
NM_001715.2(BLK):c.*500G>T
|
rs767723868
|
|
NM_001715.2(BLK):c.-440G>A
|
rs554033678
|
|
NM_001715.2(BLK):c.-475A>C
|
rs886062589
|
|
NM_001715.3(BLK):c.*130G>T
|
rs576749814
|
|
NM_001715.3(BLK):c.*161C>G
|
rs886062597
|
|
NM_001715.3(BLK):c.*182del
|
rs570307048
|
|
NM_001715.3(BLK):c.*214C>T
|
rs1585428580
|
|
NM_001715.3(BLK):c.*271G>A
|
rs1343284509
|
|
NM_001715.3(BLK):c.*289G>A
|
rs886062599
|
|
NM_001715.3(BLK):c.*42A>G
|
rs759997593
|
|
NM_001715.3(BLK):c.-9T>C
|
rs886062594
|
|
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)
|
rs886062595
|
|
NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)
|
|
|
NM_001715.3(BLK):c.1208C>T (p.Ala403Val)
|
rs139210041
|
|
NM_001715.3(BLK):c.129C>A (p.Val43=)
|
rs377568491
|
|
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
|
|
|
NM_001715.3(BLK):c.1374C>T (p.Asp458=)
|
rs376977643
|
|
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
|
|
|
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)
|
rs1171913284
|
|
NM_001715.3(BLK):c.311G>T (p.Arg104Ile)
|
rs142298864
|
|
NM_001715.3(BLK):c.712C>T (p.Arg238Trp)
|
rs575123730
|
|
NM_001715.3(BLK):c.824C>T (p.Thr275Ile)
|
rs748444664
|
|
NM_001715.3(BLK):c.84C>A (p.Val28=)
|
rs1585387563
|
|
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
|
|
|
NM_001715.3(BLK):c.952G>A (p.Gly318Arg)
|
|
|
NM_001715.3(BLK):c.956G>T (p.Cys319Phe)
|
rs1563123027
|
|
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
|
|
|
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)
|
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)
|
rs984492184
|
|
NM_001807.6(CEL):c.203A>T (p.His68Leu)
|
|
|
NM_001807.6(CEL):c.2123A>T (p.Asp708Val)
|
|
|
NM_001807.6(CEL):c.277A>C (p.Ser93Arg)
|
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001807.6(CEL):c.341-83C>T
|
|
|
NM_001807.6(CEL):c.383C>T (p.Ala128Val)
|
rs960508990
|
|
NM_001807.6(CEL):c.472G>A (p.Val158Met)
|
|
|
NM_001807.6(CEL):c.497del (p.Gly166fs)
|
|
|
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
|
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
|
|
NM_001868.4(CPA1):c.-1C>G
|
|
|
NM_001868.4(CPA1):c.-5G>C
|
|
|
NM_001868.4(CPA1):c.1001A>G (p.Lys334Arg)
|
|
|
NM_001868.4(CPA1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001868.4(CPA1):c.1003G>C (p.Ala335Pro)
|
|
|
NM_001868.4(CPA1):c.1006G>T (p.Ala336Ser)
|
|
|
NM_001868.4(CPA1):c.1009G>A (p.Val337Met)
|
|
|
NM_001868.4(CPA1):c.1010T>C (p.Val337Ala)
|
|
|
NM_001868.4(CPA1):c.1016C>A (p.Ala339Asp)
|
rs1796467819
|
|
NM_001868.4(CPA1):c.101C>G (p.Ala34Gly)
|
|
|
NM_001868.4(CPA1):c.1025C>G (p.Ser342Cys)
|
|
|
NM_001868.4(CPA1):c.1025C>T (p.Ser342Phe)
|
|
|
NM_001868.4(CPA1):c.1033G>T (p.Gly345Trp)
|
|
|
NM_001868.4(CPA1):c.1042T>G (p.Phe348Val)
|
|
|
NM_001868.4(CPA1):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_001868.4(CPA1):c.1054A>C (p.Ser352Arg)
|
|
|
NM_001868.4(CPA1):c.1058T>G (p.Ile353Ser)
|
|
|
NM_001868.4(CPA1):c.1069A>G (p.Ile357Val)
|
|
|
NM_001868.4(CPA1):c.1072+1G>T
|
rs782539361
|
|
NM_001868.4(CPA1):c.1073-10C>T
|
rs1554412208
|
|
NM_001868.4(CPA1):c.1077A>G (p.Gln359=)
|
|
|
NM_001868.4(CPA1):c.1079C>G (p.Ala360Gly)
|
|
|
NM_001868.4(CPA1):c.1089C>G (p.Ser363Arg)
|
|
|
NM_001868.4(CPA1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001868.4(CPA1):c.1105T>C (p.Tyr369His)
|
|
|
NM_001868.4(CPA1):c.1109G>T (p.Ser370Ile)
|
|
|
NM_001868.4(CPA1):c.1110C>G (p.Ser370Arg)
|
|
|
NM_001868.4(CPA1):c.1117A>T (p.Ile373Phe)
|
|
|
NM_001868.4(CPA1):c.1124A>G (p.Tyr375Cys)
|
|
|
NM_001868.4(CPA1):c.1126T>C (p.Ser376Pro)
|
|
|
NM_001868.4(CPA1):c.1129T>C (p.Phe377Leu)
|
|
|
NM_001868.4(CPA1):c.1135T>C (p.Phe379Leu)
|
|
|
NM_001868.4(CPA1):c.1138G>C (p.Glu380Gln)
|
|
|
NM_001868.4(CPA1):c.1141C>G (p.Leu381Val)
|
|
|
NM_001868.4(CPA1):c.1141C>T (p.Leu381Phe)
|
|
|
NM_001868.4(CPA1):c.1142T>A (p.Leu381His)
|
|
|
NM_001868.4(CPA1):c.1151C>G (p.Thr384Ser)
|
|
|
NM_001868.4(CPA1):c.115G>A (p.Val39Met)
|
|
|
NM_001868.4(CPA1):c.1177G>C (p.Ala393Pro)
|
|
|
NM_001868.4(CPA1):c.1180T>C (p.Ser394Pro)
|
|
|
NM_001868.4(CPA1):c.1185G>T (p.Gln395His)
|
|
|
NM_001868.4(CPA1):c.1186A>T (p.Ile396Phe)
|
|
|
NM_001868.4(CPA1):c.1199C>T (p.Ala400Val)
|
|
|
NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)
|
|
|
NM_001868.4(CPA1):c.1211G>T (p.Trp404Leu)
|
|
|
NM_001868.4(CPA1):c.1212G>C (p.Trp404Cys)
|
rs1554412248
|
|
NM_001868.4(CPA1):c.1219C>T (p.Leu407Phe)
|
|
|
NM_001868.4(CPA1):c.121G>A (p.Glu41Lys)
|
|
|
NM_001868.4(CPA1):c.1223T>G (p.Leu408Arg)
|
|
|
NM_001868.4(CPA1):c.1228_1251dup (p.His417_Pro418insIleMetGluHisThrLeuAsnHis)
|
|
|
NM_001868.4(CPA1):c.1232T>A (p.Met411Lys)
|
|
|
NM_001868.4(CPA1):c.1234G>A (p.Glu412Lys)
|
|
|
NM_001868.4(CPA1):c.1234G>C (p.Glu412Gln)
|
|
|
NM_001868.4(CPA1):c.1238A>G (p.His413Arg)
|
|
|
NM_001868.4(CPA1):c.1241C>T (p.Thr414Ile)
|
|
|
NM_001868.4(CPA1):c.1243C>A (p.Leu415Met)
|
|
|
NM_001868.4(CPA1):c.1249C>T (p.His417Tyr)
|
|
|
NM_001868.4(CPA1):c.124C>G (p.Leu42Val)
|
|
|
NM_001868.4(CPA1):c.1252C>G (p.Pro418Ala)
|
|
|
NM_001868.4(CPA1):c.1252C>T (p.Pro418Ser)
|
|
|
NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys)
|
|
|
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)
|
|
|
NM_001868.4(CPA1):c.131A>C (p.Asp44Ala)
|
rs968811807
|
|
NM_001868.4(CPA1):c.136G>A (p.Glu46Lys)
|
|
|
NM_001868.4(CPA1):c.139C>T (p.His47Tyr)
|
|
|
NM_001868.4(CPA1):c.141C>A (p.His47Gln)
|
|
|
NM_001868.4(CPA1):c.143T>G (p.Leu48Arg)
|
|
|
NM_001868.4(CPA1):c.146A>G (p.Gln49Arg)
|
|
|
NM_001868.4(CPA1):c.149T>G (p.Leu50Arg)
|
|
|
NM_001868.4(CPA1):c.14T>C (p.Leu5Pro)
|
|
|
NM_001868.4(CPA1):c.158G>C (p.Trp53Ser)
|
|
|
NM_001868.4(CPA1):c.159G>C (p.Trp53Cys)
|
rs782384499
|
|
NM_001868.4(CPA1):c.15G>A (p.Leu5=)
|
|
|
NM_001868.4(CPA1):c.161G>A (p.Arg54Gln)
|
|
|
NM_001868.4(CPA1):c.163G>T (p.Gly55Trp)
|
|
|
NM_001868.4(CPA1):c.164G>A (p.Gly55Glu)
|
|
|
NM_001868.4(CPA1):c.173A>T (p.His58Leu)
|
|
|
NM_001868.4(CPA1):c.176C>G (p.Pro59Arg)
|
|
|
NM_001868.4(CPA1):c.178G>A (p.Gly60Ser)
|
|
|
NM_001868.4(CPA1):c.179G>A (p.Gly60Asp)
|
|
|
NM_001868.4(CPA1):c.179G>C (p.Gly60Ala)
|
|
|
NM_001868.4(CPA1):c.17T>C (p.Val6Ala)
|
|
|
NM_001868.4(CPA1):c.182C>A (p.Ser61Tyr)
|
|
|
NM_001868.4(CPA1):c.182C>T (p.Ser61Phe)
|
|
|
NM_001868.4(CPA1):c.193G>T (p.Val65Phe)
|
|
|
NM_001868.4(CPA1):c.197G>C (p.Arg66Pro)
|
|
|
NM_001868.4(CPA1):c.209C>T (p.Pro70Leu)
|
|
|
NM_001868.4(CPA1):c.221C>G (p.Ala74Gly)
|
|
|
NM_001868.4(CPA1):c.226A>G (p.Lys76Glu)
|
rs1796407106
|
|
NM_001868.4(CPA1):c.228G>C (p.Lys76Asn)
|
|
|
NM_001868.4(CPA1):c.238G>A (p.Glu80Lys)
|
|
|
NM_001868.4(CPA1):c.23G>T (p.Ser8Ile)
|
rs2117498346
|
|
NM_001868.4(CPA1):c.246C>A (p.His82Gln)
|
|
|
NM_001868.4(CPA1):c.247G>C (p.Gly83Arg)
|
|
|
NM_001868.4(CPA1):c.257A>G (p.Tyr86Cys)
|
|
|
NM_001868.4(CPA1):c.265A>G (p.Met89Val)
|
|
|
NM_001868.4(CPA1):c.270C>G (p.Ile90Met)
|
|
|
NM_001868.4(CPA1):c.277G>A (p.Val93Met)
|
|
|
NM_001868.4(CPA1):c.277G>T (p.Val93Leu)
|
|
|
NM_001868.4(CPA1):c.290T>C (p.Leu97Pro)
|
|
|
NM_001868.4(CPA1):c.290T>G (p.Leu97Arg)
|
|
|
NM_001868.4(CPA1):c.293A>T (p.Asp98Val)
|
|
|
NM_001868.4(CPA1):c.294C>G (p.Asp98Glu)
|
|
|
NM_001868.4(CPA1):c.297G>C (p.Glu99Asp)
|
|
|
NM_001868.4(CPA1):c.298G>A (p.Glu100Lys)
|
rs900864227
|
|
NM_001868.4(CPA1):c.304G>A (p.Glu102Lys)
|
|
|
NM_001868.4(CPA1):c.307C>G (p.Gln103Glu)
|
|
|
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)
|
|
|
NM_001868.4(CPA1):c.309G>C (p.Gln103His)
|
|
|
NM_001868.4(CPA1):c.316G>A (p.Ala106Thr)
|
|
|
NM_001868.4(CPA1):c.317C>T (p.Ala106Val)
|
|
|
NM_001868.4(CPA1):c.325T>C (p.Ser109Pro)
|
|
|
NM_001868.4(CPA1):c.328C>G (p.Arg110Gly)
|
|
|
NM_001868.4(CPA1):c.332C>T (p.Ala111Val)
|
|
|
NM_001868.4(CPA1):c.338C>T (p.Ser113Phe)
|
|
|
NM_001868.4(CPA1):c.33G>T (p.Leu11Phe)
|
|
|
NM_001868.4(CPA1):c.343G>A (p.Asp115Asn)
|
|
|
NM_001868.4(CPA1):c.347C>G (p.Thr116Ser)
|
|
|
NM_001868.4(CPA1):c.350T>C (p.Phe117Ser)
|
|
|
NM_001868.4(CPA1):c.353A>G (p.Asn118Ser)
|
|
|
NM_001868.4(CPA1):c.355T>C (p.Tyr119His)
|
|
|
NM_001868.4(CPA1):c.356A>C (p.Tyr119Ser)
|
|
|
NM_001868.4(CPA1):c.356A>G (p.Tyr119Cys)
|
|
|
NM_001868.4(CPA1):c.359C>T (p.Ala120Val)
|
|
|
NM_001868.4(CPA1):c.364T>A (p.Tyr122Asn)
|
|
|
NM_001868.4(CPA1):c.368A>G (p.His123Arg)
|
|
|
NM_001868.4(CPA1):c.370A>C (p.Thr124Pro)
|
|
|
NM_001868.4(CPA1):c.374T>G (p.Leu125Arg)
|
|
|
NM_001868.4(CPA1):c.376G>A (p.Glu126Lys)
|
|
|
NM_001868.4(CPA1):c.37G>A (p.Ala13Thr)
|
|
|
NM_001868.4(CPA1):c.380A>G (p.Glu127Gly)
|
|
|
NM_001868.4(CPA1):c.382A>G (p.Ile128Val)
|
|
|
NM_001868.4(CPA1):c.386A>G (p.Tyr129Cys)
|
|
|
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala)
|
rs782428216
|
|
NM_001868.4(CPA1):c.389A>T (p.Asp130Val)
|
|
|
NM_001868.4(CPA1):c.395T>A (p.Leu132Gln)
|
|
|
NM_001868.4(CPA1):c.400C>A (p.Leu134Met)
|
|
|
NM_001868.4(CPA1):c.401del (p.Leu134fs)
|
rs1554411307
|
|
NM_001868.4(CPA1):c.406G>A (p.Val136Met)
|
|
|
NM_001868.4(CPA1):c.409G>A (p.Ala137Thr)
|
rs1418197645
|
|
NM_001868.4(CPA1):c.410C>G (p.Ala137Gly)
|
rs183429188
|
|
NM_001868.4(CPA1):c.412G>A (p.Glu138Lys)
|
|
|
NM_001868.4(CPA1):c.419C>A (p.Pro140Gln)
|
|
|
NM_001868.4(CPA1):c.419C>G (p.Pro140Arg)
|
|
|
NM_001868.4(CPA1):c.421C>A (p.His141Asn)
|
|
|
NM_001868.4(CPA1):c.421C>T (p.His141Tyr)
|
rs1584851048
|
|
NM_001868.4(CPA1):c.424C>T (p.Leu142Phe)
|
|
|
NM_001868.4(CPA1):c.428T>A (p.Val143Asp)
|
|
|
NM_001868.4(CPA1):c.432C>G (p.Ser144Arg)
|
rs2117501364
|
|
NM_001868.4(CPA1):c.434A>G (p.Lys145Arg)
|
|
|
NM_001868.4(CPA1):c.443T>C (p.Ile148Thr)
|
|
|
NM_001868.4(CPA1):c.444T>G (p.Ile148Met)
|
|
|
NM_001868.4(CPA1):c.446G>A (p.Gly149Asp)
|
|
|
NM_001868.4(CPA1):c.448A>C (p.Asn150His)
|
|
|
NM_001868.4(CPA1):c.451A>G (p.Thr151Ala)
|
|
|
NM_001868.4(CPA1):c.463C>G (p.Arg155Gly)
|
|
|
NM_001868.4(CPA1):c.463C>T (p.Arg155Cys)
|
|
|
NM_001868.4(CPA1):c.464G>A (p.Arg155His)
|
|
|
NM_001868.4(CPA1):c.469A>C (p.Ile157Leu)
|
|
|
NM_001868.4(CPA1):c.473A>G (p.Tyr158Cys)
|
|
|
NM_001868.4(CPA1):c.488G>A (p.Ser163Asn)
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|
|
NM_001868.4(CPA1):c.490A>T (p.Thr164Ser)
|
|
|
NM_001868.4(CPA1):c.493G>A (p.Gly165Arg)
|
|
|
NM_001868.4(CPA1):c.494G>C (p.Gly165Ala)
|
|
|
NM_001868.4(CPA1):c.499A>G (p.Ser167Gly)
|
|
|
NM_001868.4(CPA1):c.503A>C (p.Lys168Thr)
|
|
|
NM_001868.4(CPA1):c.503A>G (p.Lys168Arg)
|
|
|
NM_001868.4(CPA1):c.505C>T (p.Arg169Cys)
|
|
|
NM_001868.4(CPA1):c.514A>G (p.Ile172Val)
|
|
|
NM_001868.4(CPA1):c.526A>C (p.Thr176Pro)
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|
|
NM_001868.4(CPA1):c.531C>T (p.Gly177=)
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|
|
NM_001868.4(CPA1):c.532A>C (p.Ile178Leu)
|
|
|
NM_001868.4(CPA1):c.535C>T (p.His179Tyr)
|
|
|
NM_001868.4(CPA1):c.536A>G (p.His179Arg)
|
|
|
NM_001868.4(CPA1):c.539C>T (p.Ser180Phe)
|
|
|
NM_001868.4(CPA1):c.541C>T (p.Arg181Trp)
|
|
|
NM_001868.4(CPA1):c.547T>G (p.Trp183Gly)
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|
|
NM_001868.4(CPA1):c.548G>T (p.Trp183Leu)
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|
|
NM_001868.4(CPA1):c.557A>C (p.Gln186Pro)
|
|
|
NM_001868.4(CPA1):c.559G>A (p.Ala187Thr)
|
|
|
NM_001868.4(CPA1):c.577G>T (p.Ala193Ser)
|
|
|
NM_001868.4(CPA1):c.586-1G>T
|
|
|
NM_001868.4(CPA1):c.589A>C (p.Thr197Pro)
|
|
|
NM_001868.4(CPA1):c.592C>G (p.Gln198Glu)
|
|
|
NM_001868.4(CPA1):c.595G>A (p.Asp199Asn)
|
|
|
NM_001868.4(CPA1):c.598T>C (p.Tyr200His)
|
|
|
NM_001868.4(CPA1):c.601G>A (p.Gly201Arg)
|
|
|
NM_001868.4(CPA1):c.601G>C (p.Gly201Arg)
|
|
|
NM_001868.4(CPA1):c.611C>A (p.Ala204Glu)
|
|
|
NM_001868.4(CPA1):c.614C>T (p.Ala205Val)
|
|
|
NM_001868.4(CPA1):c.619A>C (p.Thr207Pro)
|
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|
NM_001868.4(CPA1):c.626T>G (p.Ile209Ser)
|
|
|
NM_001868.4(CPA1):c.629T>A (p.Leu210His)
|
|
|
NM_001868.4(CPA1):c.631G>A (p.Asp211Asn)
|
|
|
NM_001868.4(CPA1):c.644T>C (p.Ile215Thr)
|
|
|
NM_001868.4(CPA1):c.649C>A (p.Leu217Met)
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|
|
NM_001868.4(CPA1):c.64G>A (p.Gly22Arg)
|
|
|
NM_001868.4(CPA1):c.650T>C (p.Leu217Pro)
|
|
|
NM_001868.4(CPA1):c.655A>T (p.Ile219Phe)
|
|
|
NM_001868.4(CPA1):c.657C>G (p.Ile219Met)
|
rs1057524778
|
|
NM_001868.4(CPA1):c.658G>A (p.Val220Ile)
|
|
|
NM_001868.4(CPA1):c.658G>C (p.Val220Leu)
|
|
|
NM_001868.4(CPA1):c.65G>C (p.Gly22Ala)
|
|
|
NM_001868.4(CPA1):c.66-3C>T
|
|
|
NM_001868.4(CPA1):c.661A>G (p.Thr221Ala)
|
|
|
NM_001868.4(CPA1):c.674G>C (p.Gly225Ala)
|
|
|
NM_001868.4(CPA1):c.674G>T (p.Gly225Val)
|
|
|
NM_001868.4(CPA1):c.686C>A (p.Thr229Lys)
|
rs781815975
|
|
NM_001868.4(CPA1):c.697A>C (p.Asn233His)
|
|
|
NM_001868.4(CPA1):c.700C>G (p.Arg234Gly)
|
|
|
NM_001868.4(CPA1):c.701G>A (p.Arg234His)
|
|
|
NM_001868.4(CPA1):c.703A>G (p.Met235Val)
|
|
|
NM_001868.4(CPA1):c.706T>A (p.Trp236Arg)
|
|
|
NM_001868.4(CPA1):c.706T>C (p.Trp236Arg)
|
|
|
NM_001868.4(CPA1):c.710G>T (p.Arg237Leu)
|
|
|
NM_001868.4(CPA1):c.715A>G (p.Thr239Ala)
|
|
|
NM_001868.4(CPA1):c.716C>G (p.Thr239Ser)
|
|
|
NM_001868.4(CPA1):c.716C>T (p.Thr239Ile)
|
|
|
NM_001868.4(CPA1):c.718C>G (p.Arg240Gly)
|
|
|
NM_001868.4(CPA1):c.722C>G (p.Ser241Cys)
|
|
|
NM_001868.4(CPA1):c.724C>A (p.His242Asn)
|
|
|
NM_001868.4(CPA1):c.728C>T (p.Thr243Ile)
|
|
|
NM_001868.4(CPA1):c.730G>A (p.Ala244Thr)
|
|
|
NM_001868.4(CPA1):c.731C>T (p.Ala244Val)
|
|
|
NM_001868.4(CPA1):c.734G>A (p.Gly245Asp)
|
|
|
NM_001868.4(CPA1):c.739C>G (p.Leu247Val)
|
|
|
NM_001868.4(CPA1):c.739C>T (p.Leu247Phe)
|
|
|
NM_001868.4(CPA1):c.740T>C (p.Leu247Pro)
|
|
|
NM_001868.4(CPA1):c.746T>C (p.Ile249Thr)
|
|
|
NM_001868.4(CPA1):c.754G>C (p.Asp252His)
|
|
|
NM_001868.4(CPA1):c.756C>A (p.Asp252Glu)
|
|
|
NM_001868.4(CPA1):c.761A>G (p.Asn254Ser)
|
|
|
NM_001868.4(CPA1):c.763A>G (p.Arg255Gly)
|
|
|
NM_001868.4(CPA1):c.763A>T (p.Arg255Trp)
|
rs782085292
|
|
NM_001868.4(CPA1):c.76C>G (p.Leu26Val)
|
|
|
NM_001868.4(CPA1):c.771G>C (p.Trp257Cys)
|
|
|
NM_001868.4(CPA1):c.774C>A (p.Asp258Glu)
|
|
|
NM_001868.4(CPA1):c.775G>T (p.Ala259Ser)
|
rs369665148
|
|
NM_001868.4(CPA1):c.779G>A (p.Gly260Asp)
|
rs1554411743
|
|
NM_001868.4(CPA1):c.779G>T (p.Gly260Val)
|
|
|
NM_001868.4(CPA1):c.77T>G (p.Leu26Arg)
|
|
|
NM_001868.4(CPA1):c.787+2T>A
|
|
|
NM_001868.4(CPA1):c.788-5C>A
|
rs201705049
|
|
NM_001868.4(CPA1):c.794G>A (p.Gly265Glu)
|
|
|
NM_001868.4(CPA1):c.800G>T (p.Ser267Ile)
|
|
|
NM_001868.4(CPA1):c.811T>G (p.Cys271Gly)
|
|
|
NM_001868.4(CPA1):c.814T>G (p.Ser272Ala)
|
|
|
NM_001868.4(CPA1):c.817G>A (p.Glu273Lys)
|
|
|
NM_001868.4(CPA1):c.819G>C (p.Glu273Asp)
|
|
|
NM_001868.4(CPA1):c.819G>T (p.Glu273Asp)
|
|
|
NM_001868.4(CPA1):c.821C>T (p.Thr274Ile)
|
|
|
NM_001868.4(CPA1):c.823T>C (p.Tyr275His)
|
|
|
NM_001868.4(CPA1):c.824A>G (p.Tyr275Cys)
|
|
|
NM_001868.4(CPA1):c.830G>T (p.Gly277Val)
|
|
|
NM_001868.4(CPA1):c.834G>C (p.Lys278Asn)
|
rs201936657
|
|
NM_001868.4(CPA1):c.834G>T (p.Lys278Asn)
|
|
|
NM_001868.4(CPA1):c.836T>C (p.Phe279Ser)
|
|
|
NM_001868.4(CPA1):c.839C>A (p.Ala280Asp)
|
|
|
NM_001868.4(CPA1):c.839C>T (p.Ala280Val)
|
|
|
NM_001868.4(CPA1):c.850G>A (p.Val284Met)
|
|
|
NM_001868.4(CPA1):c.851T>C (p.Val284Ala)
|
rs2117505975
|
|
NM_001868.4(CPA1):c.862T>C (p.Ser288Pro)
|
|
|
NM_001868.4(CPA1):c.865A>G (p.Ile289Val)
|
rs782170635
|
|
NM_001868.4(CPA1):c.865A>T (p.Ile289Phe)
|
|
|
NM_001868.4(CPA1):c.868G>T (p.Val290Leu)
|
|
|
NM_001868.4(CPA1):c.86C>G (p.Ser29Cys)
|
rs2117499085
|
|
NM_001868.4(CPA1):c.874T>A (p.Phe292Ile)
|
|
|
NM_001868.4(CPA1):c.885C>A (p.Asp295Glu)
|
|
|
NM_001868.4(CPA1):c.886C>T (p.His296Tyr)
|
|
|
NM_001868.4(CPA1):c.895A>C (p.Ile299Leu)
|
|
|
NM_001868.4(CPA1):c.895A>T (p.Ile299Phe)
|
|
|
NM_001868.4(CPA1):c.8G>T (p.Gly3Val)
|
|
|
NM_001868.4(CPA1):c.900G>T (p.Lys300Asn)
|
|
|
NM_001868.4(CPA1):c.905T>C (p.Phe302Ser)
|
|
|
NM_001868.4(CPA1):c.918C>G (p.His306Gln)
|
|
|
NM_001868.4(CPA1):c.920G>T (p.Ser307Ile)
|
|
|
NM_001868.4(CPA1):c.929A>G (p.Gln310Arg)
|
|
|
NM_001868.4(CPA1):c.92C>T (p.Ala31Val)
|
|
|
NM_001868.4(CPA1):c.931C>T (p.Leu311Phe)
|
|
|
NM_001868.4(CPA1):c.938T>C (p.Met313Thr)
|
rs2117506089
|
|
NM_001868.4(CPA1):c.939G>A (p.Met313Ile)
|
|
|
NM_001868.4(CPA1):c.944C>T (p.Pro315Leu)
|
|
|
NM_001868.4(CPA1):c.947A>G (p.Tyr316Cys)
|
|
|
NM_001868.4(CPA1):c.94G>A (p.Asp32Asn)
|
|
|
NM_001868.4(CPA1):c.956A>G (p.Lys319Arg)
|
|
|
NM_001868.4(CPA1):c.958A>G (p.Thr320Ala)
|
|
|
NM_001868.4(CPA1):c.974A>T (p.Asp325Val)
|
|
|
NM_001868.4(CPA1):c.975C>A (p.Asp325Glu)
|
|
|
NM_001868.4(CPA1):c.981T>G (p.Asp327Glu)
|
|
|
NM_001868.4(CPA1):c.983A>C (p.Glu328Ala)
|
|
|
NM_001868.4(CPA1):c.984G>C (p.Glu328Asp)
|
|
|
NM_001868.4(CPA1):c.988-3C>T
|
|
|
NM_001868.4(CPA1):c.989A>T (p.Asp330Val)
|
|
|
NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)
|
rs2150032599
|
|
NM_001903.5(CTNNA1):c.1392del (p.Ile465fs)
|
rs2150233636
|
|
NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)
|
rs2150288180
|
|
NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)
|
rs1755329623
|
|
NM_001903.5(CTNNA1):c.1645del (p.Ala549fs)
|
rs2150288925
|
|
NM_001903.5(CTNNA1):c.1715T>C (p.Val572Ala)
|
rs2150289732
|
|
NM_001903.5(CTNNA1):c.1944del (p.Phe648fs)
|
rs2150324882
|
|
NM_001903.5(CTNNA1):c.2047A>G (p.Lys683Glu)
|
rs2150334086
|
|
NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)
|
rs2150358511
|
|
NM_001903.5(CTNNA1):c.2665A>G (p.Lys889Glu)
|
rs1766015674
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001927.4(DES):c.37_578+508del
|
|
|
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs)
|
rs796052115
|
|
NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)
|
rs1593853217
|
|
NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly)
|
rs1591588696
|
|
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)
|
rs3831942
|
|
NM_002253.4(KDR):c.2380G>A (p.Gly794Arg)
|
rs795902896
|
|
NM_002253.4(KDR):c.2509+20T>A
|
rs795902897
|
|
NM_002253.4(KDR):c.2510-27del
|
rs795902898
|
|
NM_002253.4(KDR):c.2544G>T (p.Val848=)
|
rs795902899
|
|
NM_002253.4(KDR):c.2598A>C (p.Ala866=)
|
rs795939486
|
|
NM_002253.4(KDR):c.2615-23C>T
|
rs778886056
|
|
NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)
|
rs794729676
|
|
NM_002253.4(KDR):c.2676T>A (p.Ile892=)
|
rs794729677
|
|
NM_002253.4(KDR):c.2705T>A (p.Leu902Gln)
|
rs794729678
|
|
NM_002253.4(KDR):c.2721G>C (p.Lys907Asn)
|
rs200773668
|
|
NM_002253.4(KDR):c.3441C>G (p.Pro1147=)
|
rs795939487
|
|
NM_002253.4(KDR):c.3465G>A (p.Glu1155=)
|
rs795939488
|
|
NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe)
|
rs761176323
|
|
NM_002299.4(LCT):c.*251G>A
|
rs886054860
|
|
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys)
|
rs886054868
|
|
NM_002299.4(LCT):c.3390G>A (p.Glu1130=)
|
rs886054865
|
|
NM_002299.4(LCT):c.3532C>T (p.Leu1178=)
|
rs886054864
|
|
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)
|
rs886054863
|
|
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=)
|
rs557321611
|
|
NM_002299.4(LCT):c.4173+6_4173+8del
|
rs375300532
|
|
NM_002299.4(LCT):c.4239A>G (p.Pro1413=)
|
rs752925060
|
|
NM_002299.4(LCT):c.4434T>C (p.Asp1478=)
|
rs778761405
|
|
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=)
|
rs886054862
|
|
NM_002299.4(LCT):c.54G>C (p.Trp18Cys)
|
rs886054870
|
|
NM_002299.4(LCT):c.621C>T (p.His207=)
|
rs369174474
|
|
NM_002303.6(LEPR):c.1055G>T (p.Cys352Phe)
|
rs1057524881
|
|
NM_002303.6(LEPR):c.1968G>T (p.Lys656Asn)
|
rs1805094
|
|
NM_002335.4(LRP5):c.1412+11C>T
|
rs202149761
|
|
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly)
|
rs2098614549
|
|
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser)
|
rs2098653807
|
|
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu)
|
rs1554969579
|
|
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His)
|
rs2153162994
|
|
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del)
|
rs780882911
|
|
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn)
|
rs1470530779
|
|
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser)
|
rs775353605
|
|
NM_002335.4(LRP5):c.2318+3_2318+6del
|
rs1292196959
|
|
NM_002335.4(LRP5):c.2359G>A (p.Val787Met)
|
rs778567335
|
|
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His)
|
rs936323278
|
|
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln)
|
rs559129140
|
|
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)
|
rs764138752
|
|
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn)
|
rs147758521
|
|
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu)
|
rs61889560
|
|
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys)
|
rs753926639
|
|
NM_002335.4(LRP5):c.3237-16C>A
|
rs748779058
|
|
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr)
|
rs1272835374
|
|
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His)
|
rs560826688
|
|
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile)
|
rs148217741
|
|
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)
|
rs1019409513
|
|
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg)
|
rs764259701
|
|
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu)
|
rs764259701
|
|
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser)
|
rs968164869
|
|
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro)
|
rs150088620
|
|
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile)
|
rs2098675334
|
|
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn)
|
rs1008752977
|
|
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr)
|
rs2153181249
|
|
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr)
|
rs2153181307
|
|
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys)
|
rs931583330
|
|
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu)
|
rs199871539
|
|
NM_002335.4(LRP5):c.441G>T (p.Trp147Cys)
|
rs748347747
|
|
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del)
|
rs774251511
|
|
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His)
|
rs764447598
|
|
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln)
|
rs183377804
|
|
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu)
|
rs183377804
|
|
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu)
|
rs549579496
|
|
NM_002336.3(LRP6):c.1426C>G (p.Leu476Val)
|
rs2136988022
|
|
NM_002336.3(LRP6):c.1603A>G (p.Ile535Val)
|
rs1862848708
|
|
NM_002354.2(EPCAM):c.(?_-1)_858+?dup
|
|
|
NM_002354.2(EPCAM):c.859-?_*415+?dup
|
|
|
NM_002354.3(EPCAM):c.*147dup
|
rs886056132
|
|
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)
|
rs2103737908
|
|
NM_002354.3(EPCAM):c.123T>A (p.Asn41Lys)
|
rs750032094
|
|
NM_002354.3(EPCAM):c.125A>G (p.Asn42Ser)
|
rs864622433
|
|
NM_002354.3(EPCAM):c.151G>T (p.Val51Phe)
|
rs781673286
|
|
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
|
|
|
NM_002354.3(EPCAM):c.28G>A (p.Gly10Arg)
|
rs863224709
|
|
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly)
|
rs587780557
|
|
NM_002354.3(EPCAM):c.299A>T (p.Asp100Val)
|
rs587780557
|
|
NM_002354.3(EPCAM):c.320C>T (p.Ala107Val)
|
rs863224710
|
|
NM_002354.3(EPCAM):c.344T>A (p.Met115Lys)
|
rs1126497
|
|
NM_002354.3(EPCAM):c.34C>A (p.Leu12Met)
|
rs746990000
|
|
NM_002354.3(EPCAM):c.380C>T (p.Thr127Ile)
|
rs863224711
|
|
NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu)
|
rs863224389
|
|
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)
|
|
|
NM_002354.3(EPCAM):c.436A>G (p.Ile146Val)
|
rs751352456
|
|
NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1])
|
rs878854490
|
|
NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del)
|
rs864622092
|
|
NM_002354.3(EPCAM):c.496C>T (p.Leu166Phe)
|
rs587780768
|
|
NM_002354.3(EPCAM):c.509_511del (p.Ile170del)
|
|
|
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)
|
rs116429842
|
|
NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)
|
|
|
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del)
|
rs863224840
|
|
NM_002354.3(EPCAM):c.601C>G (p.Gln201Glu)
|
rs878854493
|
|
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)
|
rs2103738227
|
|
NM_002354.3(EPCAM):c.658-1G>T
|
rs1573400213
|
|
NM_002354.3(EPCAM):c.690A>C (p.Lys230Asn)
|
rs864622463
|
|
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala)
|
rs755757555
|
|
NM_002354.3(EPCAM):c.74A>T (p.Glu25Val)
|
rs878854494
|
|
NM_002354.3(EPCAM):c.76+5G>A
|
rs863224712
|
|
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr)
|
rs587780771
|
|
NM_002354.3(EPCAM):c.79T>G (p.Cys27Gly)
|
|
|
NM_002354.3(EPCAM):c.835G>C (p.Val279Leu)
|
rs878854495
|
|
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)
|
|
|
NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del)
|
rs1424757619
|
|
NM_002354.3(EPCAM):c.866C>T (p.Ser289Phe)
|
rs864622286
|
|
NM_002354.3(EPCAM):c.878G>A (p.Arg293Lys)
|
rs786204192
|
|
NM_002354.3(EPCAM):c.903+5A>G
|
rs199784016
|
|
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)
|
rs773998062
|
|
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala)
|
rs886038993
|
|
NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala)
|
rs1555563221
|
|
NM_002474.3(MYH11):c.1402-8G>C
|
rs529694413
|
|
NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys)
|
rs1160451543
|
|
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)
|
rs764831521
|
|
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr)
|
rs1393414333
|
|
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)
|
rs2041282747
|
|
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)
|
rs142128375
|
|
NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly)
|
rs2151248171
|
|
NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln)
|
rs2151248140
|
|
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr)
|
rs2041152851
|
|
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp)
|
rs1451959711
|
|
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)
|
rs886038854
|
|
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys)
|
rs1057347498
|
|
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu)
|
rs111940956
|
|
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln)
|
rs1473608237
|
|
NM_002474.3(MYH11):c.391C>G (p.Leu131Val)
|
rs111247524
|
|
NM_002474.3(MYH11):c.397A>G (p.Ile133Val)
|
rs2043468274
|
|
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe)
|
rs147127121
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)
|
rs769202751
|
|
NM_002474.3(MYH11):c.530C>T (p.Thr177Ile)
|
rs2042809404
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5336C>G (p.Thr1779Arg)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro)
|
rs751495086
|
|
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His)
|
rs553162576
|
|
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)
|
rs764285909
|
|
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr)
|
rs764843752
|
|
NM_002474.3(MYH11):c.589G>A (p.Val197Met)
|
rs1397436456
|
|
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala)
|
rs752441599
|
|
NM_002474.3(MYH11):c.754G>A (p.Val252Ile)
|
rs772078130
|
|
NM_002474.3(MYH11):c.817C>T (p.Arg273Cys)
|
rs1490228863
|
|
NM_002500.4(NEUROD1):c.*1486A>G
|
rs1688569851
|
|
NM_002500.5(NEUROD1):c.*1125T>G
|
rs1688578868
|
|
NM_002500.5(NEUROD1):c.*463del
|
rs886055325
|
|
NM_002500.5(NEUROD1):c.*608T>C
|
rs1688595150
|
|
NM_002500.5(NEUROD1):c.*617C>T
|
rs886055323
|
|
NM_002500.5(NEUROD1):c.*640_*641dup
|
rs886055322
|
|
NM_002500.5(NEUROD1):c.*642_*643del
|
rs886055321
|
|
NM_002500.5(NEUROD1):c.*674_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*676_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*75G>T
|
rs1688606060
|
|
NM_002500.5(NEUROD1):c.*773A>C
|
rs886055319
|
|
NM_002500.5(NEUROD1):c.*795T>C
|
rs946367001
|
|
NM_002500.5(NEUROD1):c.*819C>G
|
rs1688587199
|
|
NM_002500.5(NEUROD1):c.*859C>A
|
rs752652027
|
|
NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile)
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
|
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)
|
rs553756272
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg)
|
rs376752352
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro)
|
rs761826783
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)
|
rs886055327
|
|
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)
|
rs1559135056
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002615.7(SERPINF1):c.643+8C>T
|
rs149399910
|
|
NM_002666.5(PLIN1):c.964-1G>A
|
rs201579932
|
|
NM_002691.4(POLD1):c.-1-12C>T
|
rs778338383
|
|
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile)
|
rs868850526
|
|
NM_002691.4(POLD1):c.1687-2A>G
|
rs1568628299
|
|
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp)
|
rs776773005
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly)
|
rs148176230
|
|
NM_002691.4(POLD1):c.2874G>A (p.Leu958=)
|
rs1568639764
|
|
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp)
|
rs1057519694
|
|
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu)
|
rs878854552
|
|
NM_002711.4(PPP1R3A):c.1824C>A (p.Ser608Arg)
|
rs767098711
|
|
NM_002711.4(PPP1R3A):c.2990T>C (p.Phe997Ser)
|
rs35572169
|
|
NM_002729.5(HHEX):c.17C>G (p.Pro6Arg)
|
rs1014685241
|
|
NM_002743.2(PRKCSH):c.-193G>A
|
rs886054195
|
|
NM_002769.4(PRSS1):c.-28_-8del21
|
rs755789680
|
|
NM_002769.5(PRSS1):c.-1C>T
|
|
|
NM_002769.5(PRSS1):c.-4C>A
|
|
|
NM_002769.5(PRSS1):c.103G>C (p.Val35Leu)
|
rs1286351441
|
|
NM_002769.5(PRSS1):c.103G>T (p.Val35Phe)
|
rs1286351441
|
|
NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)
|
|
|
NM_002769.5(PRSS1):c.118T>A (p.Ser40Thr)
|
|
|
NM_002769.5(PRSS1):c.118T>G (p.Ser40Ala)
|
|
|
NM_002769.5(PRSS1):c.119C>A (p.Ser40Tyr)
|
rs768277012
|
|
NM_002769.5(PRSS1):c.119C>G (p.Ser40Cys)
|
|
|
NM_002769.5(PRSS1):c.119C>T (p.Ser40Phe)
|
|
|
NM_002769.5(PRSS1):c.125A>G (p.Asn42Ser)
|
|
|
NM_002769.5(PRSS1):c.130G>A (p.Gly44Ser)
|
|
|
NM_002769.5(PRSS1):c.134A>C (p.Tyr45Ser)
|
|
|
NM_002769.5(PRSS1):c.134A>G (p.Tyr45Cys)
|
|
|
NM_002769.5(PRSS1):c.135C>A (p.Tyr45Ter)
|
rs1798623321
|
|
NM_002769.5(PRSS1):c.136_138del (p.His46del)
|
|
|
NM_002769.5(PRSS1):c.137A>G (p.His46Arg)
|
|
|
NM_002769.5(PRSS1):c.139T>G (p.Phe47Val)
|
|
|
NM_002769.5(PRSS1):c.152C>A (p.Ser51Tyr)
|
|
|
NM_002769.5(PRSS1):c.154C>G (p.Leu52Val)
|
|
|
NM_002769.5(PRSS1):c.163G>A (p.Glu55Lys)
|
rs1365488828
|
|
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)
|
rs147366981
|
|
NM_002769.5(PRSS1):c.167A>G (p.Gln56Arg)
|
|
|
NM_002769.5(PRSS1):c.16A>G (p.Ile6Val)
|
|
|
NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe)
|
rs1585972378
|
|
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
|
|
|
NM_002769.5(PRSS1):c.175G>A (p.Val59Ile)
|
|
|
NM_002769.5(PRSS1):c.178T>C (p.Ser60Pro)
|
|
|
NM_002769.5(PRSS1):c.178T>G (p.Ser60Ala)
|
|
|
NM_002769.5(PRSS1):c.185G>T (p.Gly62Val)
|
|
|
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
|
|
|
NM_002769.5(PRSS1):c.189C>G (p.His63Gln)
|
|
|
NM_002769.5(PRSS1):c.190T>C (p.Cys64Arg)
|
|
|
NM_002769.5(PRSS1):c.190T>G (p.Cys64Gly)
|
rs1798627075
|
|
NM_002769.5(PRSS1):c.193T>C (p.Tyr65His)
|
|
|
NM_002769.5(PRSS1):c.196A>T (p.Lys66Ter)
|
|
|
NM_002769.5(PRSS1):c.197A>G (p.Lys66Arg)
|
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
NM_002769.5(PRSS1):c.200+1G>C
|
|
|
NM_002769.5(PRSS1):c.200+6T>C
|
rs763073587
|
|
NM_002769.5(PRSS1):c.201-1G>A
|
rs2116976495
|
|
NM_002769.5(PRSS1):c.201-8C>A
|
|
|
NM_002769.5(PRSS1):c.202C>A (p.Arg68Ser)
|
rs145867820
|
|
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)
|
rs145867820
|
|
NM_002769.5(PRSS1):c.203G>A (p.Arg68His)
|
rs757111793
|
|
NM_002769.5(PRSS1):c.205A>G (p.Ile69Val)
|
|
|
NM_002769.5(PRSS1):c.206T>A (p.Ile69Asn)
|
|
|
NM_002769.5(PRSS1):c.207C>G (p.Ile69Met)
|
rs1431688642
|
|
NM_002769.5(PRSS1):c.215G>C (p.Arg72Thr)
|
|
|
NM_002769.5(PRSS1):c.217C>A (p.Leu73Met)
|
|
|
NM_002769.5(PRSS1):c.220G>A (p.Gly74Arg)
|
|
|
NM_002769.5(PRSS1):c.221dup (p.Glu75fs)
|
|
|
NM_002769.5(PRSS1):c.226C>T (p.His76Tyr)
|
|
|
NM_002769.5(PRSS1):c.228C>A (p.His76Gln)
|
|
|
NM_002769.5(PRSS1):c.228C>G (p.His76Gln)
|
|
|
NM_002769.5(PRSS1):c.232A>C (p.Ile78Leu)
|
|
|
NM_002769.5(PRSS1):c.238G>A (p.Val80Ile)
|
|
|
NM_002769.5(PRSS1):c.239T>G (p.Val80Gly)
|
rs1798760073
|
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NM_002769.5(PRSS1):c.23C>T (p.Thr8Ile)
|
|
|
NM_002769.5(PRSS1):c.242T>C (p.Leu81Pro)
|
|
|
NM_002769.5(PRSS1):c.244G>C (p.Glu82Gln)
|
|
|
NM_002769.5(PRSS1):c.246G>T (p.Glu82Asp)
|
|
|
NM_002769.5(PRSS1):c.248G>A (p.Gly83Glu)
|
|
|
NM_002769.5(PRSS1):c.256C>A (p.Gln86Lys)
|
|
|
NM_002769.5(PRSS1):c.257A>C (p.Gln86Pro)
|
|
|
NM_002769.5(PRSS1):c.259T>A (p.Phe87Ile)
|
|
|
NM_002769.5(PRSS1):c.263T>C (p.Ile88Thr)
|
|
|
NM_002769.5(PRSS1):c.265A>C (p.Asn89His)
|
|
|
NM_002769.5(PRSS1):c.265A>G (p.Asn89Asp)
|
|
|
NM_002769.5(PRSS1):c.265A>T (p.Asn89Tyr)
|
rs755816580
|
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NM_002769.5(PRSS1):c.266A>G (p.Asn89Ser)
|
|
|
NM_002769.5(PRSS1):c.266A>T (p.Asn89Ile)
|
rs1446407497
|
|
NM_002769.5(PRSS1):c.267T>A (p.Asn89Lys)
|
|
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NM_002769.5(PRSS1):c.268G>C (p.Ala90Pro)
|
|
|
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val)
|
rs984312649
|
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NM_002769.5(PRSS1):c.272C>T (p.Ala91Val)
|
rs748678217
|
|
NM_002769.5(PRSS1):c.275A>T (p.Lys92Met)
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|
|
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
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|
NM_002769.5(PRSS1):c.282C>G (p.Ile94Met)
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|
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
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NM_002769.5(PRSS1):c.283C>G (p.Arg95Gly)
|
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NM_002769.5(PRSS1):c.284G>C (p.Arg95Pro)
|
|
|
NM_002769.5(PRSS1):c.289C>T (p.Pro97Ser)
|
|
|
NM_002769.5(PRSS1):c.290C>A (p.Pro97His)
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NM_002769.5(PRSS1):c.290C>T (p.Pro97Leu)
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|
NM_002769.5(PRSS1):c.292C>G (p.Gln98Glu)
|
|
|
NM_002769.5(PRSS1):c.292_305delinsAAATACAACAGCCG (p.Gln98_Lys102delinsLysTyrAsnSerArg)
|
rs1563261113
|
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NM_002769.5(PRSS1):c.294A>T (p.Gln98His)
|
rs1563261128
|
|
NM_002769.5(PRSS1):c.295T>C (p.Tyr99His)
|
rs1798766944
|
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NM_002769.5(PRSS1):c.297C>A (p.Tyr99Ter)
|
rs373659879
|
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NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
|
|
|
NM_002769.5(PRSS1):c.298G>C (p.Asp100His)
|
rs199507985
|
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NM_002769.5(PRSS1):c.298G>T (p.Asp100Tyr)
|
|
|
NM_002769.5(PRSS1):c.2T>G (p.Met1Arg)
|
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|
NM_002769.5(PRSS1):c.300C>G (p.Asp100Glu)
|
|
|
NM_002769.5(PRSS1):c.302G>A (p.Arg101Lys)
|
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|
NM_002769.5(PRSS1):c.303_305delinsCCG (p.Arg101_Lys102delinsSerArg)
|
|
|
NM_002769.5(PRSS1):c.317A>G (p.Asn106Ser)
|
|
|
NM_002769.5(PRSS1):c.318T>A (p.Asn106Lys)
|
|
|
NM_002769.5(PRSS1):c.326T>A (p.Met109Lys)
|
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|
NM_002769.5(PRSS1):c.326T>C (p.Met109Thr)
|
|
|
NM_002769.5(PRSS1):c.326T>G (p.Met109Arg)
|
|
|
NM_002769.5(PRSS1):c.327G>T (p.Met109Ile)
|
|
|
NM_002769.5(PRSS1):c.331A>G (p.Ile111Val)
|
|
|
NM_002769.5(PRSS1):c.332T>A (p.Ile111Asn)
|
|
|
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
|
|
|
NM_002769.5(PRSS1):c.341C>G (p.Ser114Cys)
|
|
|
NM_002769.5(PRSS1):c.346C>A (p.Arg116Ser)
|
|
|
NM_002769.5(PRSS1):c.347G>A (p.Arg116His)
|
rs199769221
|
|
NM_002769.5(PRSS1):c.349G>A (p.Ala117Thr)
|
|
|
NM_002769.5(PRSS1):c.349G>T (p.Ala117Ser)
|
|
|
NM_002769.5(PRSS1):c.34G>A (p.Ala12Thr)
|
|
|
NM_002769.5(PRSS1):c.350C>G (p.Ala117Gly)
|
|
|
NM_002769.5(PRSS1):c.350C>T (p.Ala117Val)
|
rs1798772289
|
|
NM_002769.5(PRSS1):c.351A>C (p.Ala117=)
|
rs606231346
|
|
NM_002769.5(PRSS1):c.352G>A (p.Val118Ile)
|
|
|
NM_002769.5(PRSS1):c.353T>A (p.Val118Glu)
|
|
|
NM_002769.5(PRSS1):c.353T>G (p.Val118Gly)
|
|
|
NM_002769.5(PRSS1):c.354A>C (p.Val118=)
|
rs606231347
|
|
NM_002769.5(PRSS1):c.355A>G (p.Ile119Val)
|
|
|
NM_002769.5(PRSS1):c.360C>A (p.Asn120Lys)
|
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
NM_002769.5(PRSS1):c.362C>T (p.Ala121Val)
|
rs1798773882
|
|
NM_002769.5(PRSS1):c.365G>C (p.Arg122Pro)
|
rs111033565
|
|
NM_002769.5(PRSS1):c.367G>A (p.Val123Met)
|
rs144403091
|
|
NM_002769.5(PRSS1):c.367G>C (p.Val123Leu)
|
|
|
NM_002769.5(PRSS1):c.367G>T (p.Val123Leu)
|
rs144403091
|
|
NM_002769.5(PRSS1):c.368T>A (p.Val123Glu)
|
|
|
NM_002769.5(PRSS1):c.370T>C (p.Ser124Pro)
|
rs1798775039
|
|
NM_002769.5(PRSS1):c.371C>T (p.Ser124Phe)
|
|
|
NM_002769.5(PRSS1):c.373A>G (p.Thr125Ala)
|
|
|
NM_002769.5(PRSS1):c.378C>G (p.Ile126Met)
|
|
|
NM_002769.5(PRSS1):c.380C>T (p.Ser127Phe)
|
|
|
NM_002769.5(PRSS1):c.382_383del (p.Leu128fs)
|
|
|
NM_002769.5(PRSS1):c.383T>C (p.Leu128Pro)
|
|
|
NM_002769.5(PRSS1):c.385C>A (p.Pro129Thr)
|
|
|
NM_002769.5(PRSS1):c.385C>T (p.Pro129Ser)
|
|
|
NM_002769.5(PRSS1):c.386C>G (p.Pro129Arg)
|
|
|
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu)
|
rs768673799
|
|
NM_002769.5(PRSS1):c.388A>G (p.Thr130Ala)
|
|
|
NM_002769.5(PRSS1):c.389C>A (p.Thr130Asn)
|
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr)
|
rs141011596
|
|
NM_002769.5(PRSS1):c.392C>A (p.Ala131Asp)
|
|
|
NM_002769.5(PRSS1):c.395C>A (p.Pro132His)
|
rs759452330
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.40+3_40+6del
|
rs897784116
|
|
NM_002769.5(PRSS1):c.40+40dup
|
rs748794481
|
|
NM_002769.5(PRSS1):c.400G>T (p.Ala134Ser)
|
|
|
NM_002769.5(PRSS1):c.402_403inv (p.Thr135Ala)
|
|
|
NM_002769.5(PRSS1):c.404C>A (p.Thr135Asn)
|
|
|
NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)
|
|
|
NM_002769.5(PRSS1):c.406G>T (p.Gly136Cys)
|
|
|
NM_002769.5(PRSS1):c.407G>T (p.Gly136Val)
|
|
|
NM_002769.5(PRSS1):c.40C>A (p.Leu14Ile)
|
|
|
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)
|
rs747228052
|
|
NM_002769.5(PRSS1):c.40C>T (p.Leu14Phe)
|
rs747228052
|
|
NM_002769.5(PRSS1):c.41-5del
|
rs1161040461
|
|
NM_002769.5(PRSS1):c.413A>C (p.Lys138Thr)
|
|
|
NM_002769.5(PRSS1):c.413A>G (p.Lys138Arg)
|
|
|
NM_002769.5(PRSS1):c.414G>C (p.Lys138Asn)
|
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002769.5(PRSS1):c.419T>A (p.Leu140His)
|
|
|
NM_002769.5(PRSS1):c.424T>C (p.Ser142Pro)
|
|
|
NM_002769.5(PRSS1):c.425C>G (p.Ser142Cys)
|
|
|
NM_002769.5(PRSS1):c.425C>T (p.Ser142Phe)
|
|
|
NM_002769.5(PRSS1):c.428G>T (p.Gly143Val)
|
|
|
NM_002769.5(PRSS1):c.432G>T (p.Trp144Cys)
|
|
|
NM_002769.5(PRSS1):c.435del (p.Asn146fs)
|
|
|
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
|
|
|
NM_002769.5(PRSS1):c.442G>A (p.Ala148Thr)
|
|
|
NM_002769.5(PRSS1):c.442G>C (p.Ala148Pro)
|
rs775290386
|
|
NM_002769.5(PRSS1):c.443C>A (p.Ala148Glu)
|
|
|
NM_002769.5(PRSS1):c.443C>T (p.Ala148Val)
|
rs762545562
|
|
NM_002769.5(PRSS1):c.446G>A (p.Ser149Asn)
|
|
|
NM_002769.5(PRSS1):c.44C>T (p.Ala15Val)
|
|
|
NM_002769.5(PRSS1):c.452G>A (p.Gly151Asp)
|
|
|
NM_002769.5(PRSS1):c.452G>T (p.Gly151Val)
|
rs1563261623
|
|
NM_002769.5(PRSS1):c.454+13C>T
|
|
|
NM_002769.5(PRSS1):c.454+3G>A
|
|
|
NM_002769.5(PRSS1):c.454+75A>G
|
rs1376416883
|
|
NM_002769.5(PRSS1):c.455-14C>T
|
|
|
NM_002769.5(PRSS1):c.456C>A (p.Ala152=)
|
|
|
NM_002769.5(PRSS1):c.457G>C (p.Asp153His)
|
rs61735002
|
|
NM_002769.5(PRSS1):c.459C>A (p.Asp153Glu)
|
|
|
NM_002769.5(PRSS1):c.460T>C (p.Tyr154His)
|
|
|
NM_002769.5(PRSS1):c.463C>A (p.Pro155Thr)
|
|
|
NM_002769.5(PRSS1):c.464C>G (p.Pro155Arg)
|
|
|
NM_002769.5(PRSS1):c.467A>G (p.Asp156Gly)
|
|
|
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
|
|
|
NM_002769.5(PRSS1):c.469G>A (p.Glu157Lys)
|
rs200890507
|
|
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln)
|
rs200890507
|
|
NM_002769.5(PRSS1):c.470A>G (p.Glu157Gly)
|
|
|
NM_002769.5(PRSS1):c.475C>T (p.Gln159Ter)
|
|
|
NM_002769.5(PRSS1):c.476A>C (p.Gln159Pro)
|
|
|
NM_002769.5(PRSS1):c.476A>G (p.Gln159Arg)
|
|
|
NM_002769.5(PRSS1):c.479G>A (p.Cys160Tyr)
|
rs778796800
|
|
NM_002769.5(PRSS1):c.482T>G (p.Leu161Arg)
|
|
|
NM_002769.5(PRSS1):c.484G>A (p.Asp162Asn)
|
|
|
NM_002769.5(PRSS1):c.484G>C (p.Asp162His)
|
|
|
NM_002769.5(PRSS1):c.486T>A (p.Asp162Glu)
|
rs6666
|
|
NM_002769.5(PRSS1):c.486T>G (p.Asp162Glu)
|
rs6666
|
|
NM_002769.5(PRSS1):c.486_487inv (p.Ala163Thr)
|
|
|
NM_002769.5(PRSS1):c.487G>C (p.Ala163Pro)
|
|
|
NM_002769.5(PRSS1):c.487G>T (p.Ala163Ser)
|
|
|
NM_002769.5(PRSS1):c.488C>T (p.Ala163Val)
|
|
|
NM_002769.5(PRSS1):c.491del (p.Pro164fs)
|
rs766199324
|
|
NM_002769.5(PRSS1):c.493G>A (p.Val165Met)
|
|
|
NM_002769.5(PRSS1):c.499A>G (p.Ser167Gly)
|
|
|
NM_002769.5(PRSS1):c.49C>G (p.Pro17Ala)
|
rs770782578
|
|
NM_002769.5(PRSS1):c.4A>C (p.Asn2His)
|
|
|
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr)
|
rs1232891794
|
|
NM_002769.5(PRSS1):c.502C>A (p.Gln168Lys)
|
|
|
NM_002769.5(PRSS1):c.504G>C (p.Gln168His)
|
|
|
NM_002769.5(PRSS1):c.505G>A (p.Ala169Thr)
|
|
|
NM_002769.5(PRSS1):c.509A>T (p.Lys170Met)
|
|
|
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
|
|
|
NM_002769.5(PRSS1):c.50C>G (p.Pro17Arg)
|
|
|
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu)
|
rs776401461
|
|
NM_002769.5(PRSS1):c.510G>C (p.Lys170Asn)
|
|
|
NM_002769.5(PRSS1):c.511T>G (p.Cys171Gly)
|
|
|
NM_002769.5(PRSS1):c.514G>C (p.Glu172Gln)
|
|
|
NM_002769.5(PRSS1):c.516A>C (p.Glu172Asp)
|
|
|
NM_002769.5(PRSS1):c.517G>T (p.Ala173Ser)
|
|
|
NM_002769.5(PRSS1):c.518C>G (p.Ala173Gly)
|
|
|
NM_002769.5(PRSS1):c.518C>T (p.Ala173Val)
|
|
|
NM_002769.5(PRSS1):c.521C>T (p.Ser174Phe)
|
|
|
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn)
|
rs756821075
|
|
NM_002769.5(PRSS1):c.523T>C (p.Tyr175His)
|
|
|
NM_002769.5(PRSS1):c.527del (p.Pro176fs)
|
|
|
NM_002769.5(PRSS1):c.52T>C (p.Phe18Leu)
|
|
|
NM_002769.5(PRSS1):c.530G>C (p.Gly177Ala)
|
|
|
NM_002769.5(PRSS1):c.530G>T (p.Gly177Val)
|
|
|
NM_002769.5(PRSS1):c.534G>C (p.Lys178Asn)
|
|
|
NM_002769.5(PRSS1):c.535A>C (p.Ile179Leu)
|
|
|
NM_002769.5(PRSS1):c.535A>T (p.Ile179Phe)
|
|
|
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
|
|
|
NM_002769.5(PRSS1):c.546C>G (p.Asn182Lys)
|
|
|
NM_002769.5(PRSS1):c.547A>G (p.Met183Val)
|
|
|
NM_002769.5(PRSS1):c.549G>A (p.Met183Ile)
|
|
|
NM_002769.5(PRSS1):c.54del (p.Phe18fs)
|
rs779352917
|
|
NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)
|
|
|
NM_002769.5(PRSS1):c.552C>A (p.Phe184Leu)
|
|
|
NM_002769.5(PRSS1):c.554G>C (p.Cys185Ser)
|
|
|
NM_002769.5(PRSS1):c.556G>A (p.Val186Met)
|
|
|
NM_002769.5(PRSS1):c.559G>A (p.Gly187Ser)
|
|
|
NM_002769.5(PRSS1):c.560G>A (p.Gly187Asp)
|
|
|
NM_002769.5(PRSS1):c.563T>A (p.Phe188Tyr)
|
|
|
NM_002769.5(PRSS1):c.564C>G (p.Phe188Leu)
|
rs1250731677
|
|
NM_002769.5(PRSS1):c.565C>T (p.Leu189Phe)
|
|
|
NM_002769.5(PRSS1):c.56A>G (p.Asp19Gly)
|
|
|
NM_002769.5(PRSS1):c.581A>T (p.Asp194Val)
|
|
|
NM_002769.5(PRSS1):c.586T>C (p.Cys196Arg)
|
|
|
NM_002769.5(PRSS1):c.586T>G (p.Cys196Gly)
|
|
|
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn)
|
rs774895653
|
|
NM_002769.5(PRSS1):c.58G>C (p.Asp20His)
|
|
|
NM_002769.5(PRSS1):c.592-1G>C
|
|
|
NM_002769.5(PRSS1):c.592-4C>G
|
rs375342697
|
|
NM_002769.5(PRSS1):c.593G>A (p.Gly198Asp)
|
|
|
NM_002769.5(PRSS1):c.593G>T (p.Gly198Val)
|
|
|
NM_002769.5(PRSS1):c.599C>A (p.Ser200Tyr)
|
|
|
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
|
|
|
NM_002769.5(PRSS1):c.602G>T (p.Gly201Val)
|
|
|
NM_002769.5(PRSS1):c.604G>A (p.Gly202Ser)
|
|
|
NM_002769.5(PRSS1):c.604G>T (p.Gly202Cys)
|
|
|
NM_002769.5(PRSS1):c.607C>A (p.Pro203Thr)
|
|
|
NM_002769.5(PRSS1):c.608C>T (p.Pro203Leu)
|
|
|
NM_002769.5(PRSS1):c.610G>A (p.Val204Met)
|
rs1563263032
|
|
NM_002769.5(PRSS1):c.610G>C (p.Val204Leu)
|
|
|
NM_002769.5(PRSS1):c.613G>A (p.Val205Ile)
|
|
|
NM_002769.5(PRSS1):c.619A>C (p.Asn207His)
|
|
|
NM_002769.5(PRSS1):c.61G>C (p.Asp21His)
|
|
|
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
|
|
|
NM_002769.5(PRSS1):c.621T>A (p.Asn207Lys)
|
|
|
NM_002769.5(PRSS1):c.622G>A (p.Gly208Arg)
|
|
|
NM_002769.5(PRSS1):c.628C>G (p.Leu210Val)
|
|
|
NM_002769.5(PRSS1):c.62A>T (p.Asp21Val)
|
|
|
NM_002769.5(PRSS1):c.635G>C (p.Gly212Ala)
|
|
|
NM_002769.5(PRSS1):c.640G>A (p.Val214Ile)
|
|
|
NM_002769.5(PRSS1):c.640G>T (p.Val214Phe)
|
|
|
NM_002769.5(PRSS1):c.643T>C (p.Ser215Pro)
|
|
|
NM_002769.5(PRSS1):c.647G>T (p.Trp216Leu)
|
|
|
NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
|
|
|
NM_002769.5(PRSS1):c.64G>A (p.Asp22Asn)
|
rs1563258794
|
|
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
|
rs1554499629
|
|
NM_002769.5(PRSS1):c.652G>A (p.Asp218Asn)
|
|
|
NM_002769.5(PRSS1):c.653_655dup (p.Asp218_Gly219insAsp)
|
|
|
NM_002769.5(PRSS1):c.656G>A (p.Gly219Asp)
|
|
|
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
|
|
|
NM_002769.5(PRSS1):c.662C>T (p.Ala221Val)
|
|
|
NM_002769.5(PRSS1):c.667A>G (p.Lys223Glu)
|
|
|
NM_002769.5(PRSS1):c.669G>C (p.Lys223Asn)
|
rs1439609895
|
|
NM_002769.5(PRSS1):c.66C>G (p.Asp22Glu)
|
rs1585978624
|
|
NM_002769.5(PRSS1):c.671A>G (p.Asn224Ser)
|
|
|
NM_002769.5(PRSS1):c.672C>G (p.Asn224Lys)
|
rs1184689147
|
|
NM_002769.5(PRSS1):c.67A>G (p.Lys23Glu)
|
|
|
NM_002769.5(PRSS1):c.680G>A (p.Gly227Glu)
|
|
|
NM_002769.5(PRSS1):c.680G>C (p.Gly227Ala)
|
|
|
NM_002769.5(PRSS1):c.685T>C (p.Tyr229His)
|
|
|
NM_002769.5(PRSS1):c.688A>T (p.Thr230Ser)
|
|
|
NM_002769.5(PRSS1):c.694G>C (p.Val232Leu)
|
|
|
NM_002769.5(PRSS1):c.695T>G (p.Val232Gly)
|
|
|
NM_002769.5(PRSS1):c.701A>T (p.Asn234Ile)
|
|
|
NM_002769.5(PRSS1):c.706G>A (p.Val236Met)
|
|
|
NM_002769.5(PRSS1):c.707T>A (p.Val236Glu)
|
|
|
NM_002769.5(PRSS1):c.712T>C (p.Trp238Arg)
|
|
|
NM_002769.5(PRSS1):c.718A>G (p.Lys240Glu)
|
|
|
NM_002769.5(PRSS1):c.71T>A (p.Ile24Asn)
|
|
|
NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr)
|
rs141554682
|
|
NM_002769.5(PRSS1):c.725C>G (p.Thr242Ser)
|
|
|
NM_002769.5(PRSS1):c.725C>T (p.Thr242Ile)
|
|
|
NM_002769.5(PRSS1):c.728T>C (p.Ile243Thr)
|
rs1554499664
|
|
NM_002769.5(PRSS1):c.731C>T (p.Ala244Val)
|
|
|
NM_002769.5(PRSS1):c.734C>T (p.Ala245Val)
|
rs1798882939
|
|
NM_002769.5(PRSS1):c.738T>G (p.Asn246Lys)
|
|
|
NM_002769.5(PRSS1):c.739A>G (p.Ser247Gly)
|
|
|
NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)
|
|
|
NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)
|
|
|
NM_002769.5(PRSS1):c.740G>A (p.Ser247Asn)
|
rs1479014593
|
|
NM_002769.5(PRSS1):c.740G>T (p.Ser247Ile)
|
|
|
NM_002769.5(PRSS1):c.74T>C (p.Val25Ala)
|
|
|
NM_002769.5(PRSS1):c.77G>A (p.Gly26Glu)
|
|
|
NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp)
|
rs1798618982
|
|
NM_002769.5(PRSS1):c.82T>G (p.Tyr28Asp)
|
rs1405433158
|
|
NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
|
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys)
|
rs747010881
|
|
NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)
|
|
|
NM_002769.5(PRSS1):c.91G>A (p.Glu31Lys)
|
rs700323
|
|
NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del)
|
rs1317719683
|
|
NM_002769.5(PRSS1):c.92A>T (p.Glu31Val)
|
|
|
NM_002769.5(PRSS1):c.95A>G (p.Glu32Gly)
|
|
|
NM_002769.5(PRSS1):c.96G>C (p.Glu32Asp)
|
rs1253944625
|
|
NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr)
|
|
|
NM_002772.3(TMPRSS15):c.1170A>C (p.Ser390=)
|
|
|
NM_002904.6(NELFE):c.-41A>G
|
rs886061299
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)
|
rs962717797
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
NM_003000.3(SDHB):c.19C>G (p.Leu7Val)
|
rs745664191
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
NM_003000.3(SDHB):c.201A>G (p.Lys67=)
|
rs1436421650
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)
|
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
NM_003000.3(SDHB):c.287-6T>C
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
NM_003000.3(SDHB):c.305C>T (p.Ala102Val)
|
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)
|
rs2078004347
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
NM_003000.3(SDHB):c.424G>A (p.Asp142Asn)
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
NM_003000.3(SDHB):c.493G>A (p.Glu165Lys)
|
rs2101521665
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
NM_003000.3(SDHB):c.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
NM_003000.3(SDHB):c.540+11C>T
|
rs1160578491
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)
|
rs1553177442
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
NM_003000.3(SDHB):c.695C>G (p.Ala232Gly)
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
NM_003000.3(SDHB):c.822G>T (p.Lys274Asn)
|
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
NM_003001.5(SDHC):c.146A>C (p.Asn49Thr)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
NM_003001.5(SDHC):c.20+14G>T
|
rs2102272018
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
NM_003001.5(SDHC):c.241+4T>C
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)
|
rs570325845
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.256G>C (p.Gly86Arg)
|
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
|
|
|
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)
|
rs776485432
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)
|
rs541278701
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)
|
rs2102371416
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
NM_003001.5(SDHC):c.406-6C>G
|
rs1337338303
|
|
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)
|
rs1486341484
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
NM_003001.5(SDHC):c.478G>A (p.Val160Met)
|
rs1553266502
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
NM_003001.5(SDHC):c.78-19del
|
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
NM_003049.4(SLC10A1):c.[601_611del;745C>T]
|
|
|
NM_003051.3(SLC16A1):c.-214C>G
|
rs183726141
|
|
NM_003051.3(SLC16A1):c.-226G>A
|
rs886045089
|
|
NM_003051.3(SLC16A1):c.-249C>T
|
rs60953496
|
|
NM_003051.3(SLC16A1):c.-313T>C
|
rs886045090
|
|
NM_003051.3(SLC16A1):c.-314A>G
|
rs886045091
|
|
NM_003051.3(SLC16A1):c.-316G>A
|
rs1313637478
|
|
NM_003051.4(SLC16A1):c.*1044T>G
|
rs1190989254
|
|
NM_003051.4(SLC16A1):c.*1051G>A
|
rs886045064
|
|
NM_003051.4(SLC16A1):c.*1064G>T
|
rs886045063
|
|
NM_003051.4(SLC16A1):c.*1071T>C
|
rs1648368024
|
|
NM_003051.4(SLC16A1):c.*1072G>T
|
rs886045062
|
|
NM_003051.4(SLC16A1):c.*361G>T
|
rs1407575522
|
|
NM_003051.4(SLC16A1):c.*739T>C
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.*739T>G
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.1228+6G>A
|
rs190615745
|
|
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)
|
rs886045067
|
|
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=)
|
rs145916504
|
|
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser)
|
rs200143982
|
|
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu)
|
rs766830652
|
|
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=)
|
rs760137043
|
|
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
|
|
|
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu)
|
rs774823539
|
|
NM_003122.5(SPINK1):c.-108G>T
|
rs954248964
|
|
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)
|
|
|
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)
|
|
|
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala)
|
rs1226429049
|
|
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)
|
|
|
NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val)
|
rs1664137750
|
|
NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)
|
|
|
NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val)
|
rs2125007795
|
|
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=)
|
|
|
NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu)
|
rs1663648695
|
|
NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)
|
|
|
NM_003183.6(ADAM17):c.1331A>G (p.His444Arg)
|
rs1558506921
|
|
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val)
|
|
|
NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)
|
|
|
NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)
|
|
|
NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His)
|
rs1340914501
|
|
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn)
|
rs774191569
|
|
NM_003183.6(ADAM17):c.1545-7_1545-5del
|
rs372560151
|
|
NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)
|
|
|
NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)
|
|
|
NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)
|
|
|
NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe)
|
rs2124990793
|
|
NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr)
|
rs1663042903
|
|
NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr)
|
rs1662677874
|
|
NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu)
|
rs1662676771
|
|
NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)
|
|
|
NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr)
|
rs1184105835
|
|
NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)
|
|
|
NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)
|
|
|
NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala)
|
rs1572880990
|
|
NM_003183.6(ADAM17):c.1829G>A (p.Arg610His)
|
rs140536552
|
|
NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)
|
|
|
NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)
|
|
|
NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)
|
|
|
NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu)
|
rs2124966841
|
|
NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly)
|
rs1048485082
|
|
NM_003183.6(ADAM17):c.1914+3_1914+6del
|
rs769369491
|
|
NM_003183.6(ADAM17):c.1914+5G>A
|
rs2124966714
|
|
NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile)
|
rs1553356735
|
|
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr)
|
rs1292921269
|
|
NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)
|
|
|
NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn)
|
rs2124963317
|
|
NM_003183.6(ADAM17):c.1993+4G>T
|
rs376877494
|
|
NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)
|
|
|
NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val)
|
rs1298570790
|
|
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val)
|
|
|
NM_003183.6(ADAM17):c.2082+4A>G
|
|
|
NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)
|
|
|
NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)
|
|
|
NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu)
|
rs144721235
|
|
NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs)
|
rs1662038678
|
|
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu)
|
rs986450748
|
|
NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala)
|
rs889062988
|
|
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr)
|
rs2125040739
|
|
NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys)
|
rs370064783
|
|
NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)
|
|
|
NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)
|
|
|
NM_003183.6(ADAM17):c.2237dup (p.Ser747fs)
|
rs1662030392
|
|
NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser)
|
rs761025971
|
|
NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr)
|
rs374624230
|
|
NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro)
|
rs772616091
|
|
NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)
|
|
|
NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe)
|
rs1558489720
|
|
NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg)
|
rs2124948504
|
|
NM_003183.6(ADAM17):c.230+4A>G
|
rs755484483
|
|
NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro)
|
rs1662022623
|
|
NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)
|
|
|
NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr)
|
rs2125040735
|
|
NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)
|
|
|
NM_003183.6(ADAM17):c.2390del (p.Asp797fs)
|
rs2124947949
|
|
NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe)
|
rs780850654
|
|
NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)
|
|
|
NM_003183.6(ADAM17):c.2414dup (p.Ala806fs)
|
rs2124947833
|
|
NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro)
|
rs761391373
|
|
NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser)
|
rs761391373
|
|
NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu)
|
rs2124947759
|
|
NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser)
|
rs2124947605
|
|
NM_003183.6(ADAM17):c.2445dup (p.Arg816fs)
|
rs2124947599
|
|
NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup)
|
rs1662005144
|
|
NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs)
|
rs1222616180
|
|
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro)
|
rs2125035520
|
|
NM_003183.6(ADAM17):c.276A>C (p.Gln92His)
|
|
|
NM_003183.6(ADAM17):c.289G>A (p.Val97Met)
|
rs377513734
|
|
NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys)
|
rs756840167
|
|
NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu)
|
rs1664974310
|
|
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu)
|
rs1186689463
|
|
NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr)
|
rs772557660
|
|
NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu)
|
rs1340974006
|
|
NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys)
|
rs935773047
|
|
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu)
|
rs578189296
|
|
NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp)
|
rs1664940070
|
|
NM_003183.6(ADAM17):c.43G>A (p.Val15Met)
|
|
|
NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr)
|
rs1664939081
|
|
NM_003183.6(ADAM17):c.451-5T>G
|
|
|
NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly)
|
rs2125027565
|
|
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser)
|
rs1664592938
|
|
NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu)
|
rs1664592673
|
|
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile)
|
|
|
NM_003183.6(ADAM17):c.512A>T (p.Asp171Val)
|
|
|
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val)
|
rs1664590884
|
|
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile)
|
|
|
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys)
|
rs1204442125
|
|
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys)
|
rs2125027503
|
|
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu)
|
|
|
NM_003183.6(ADAM17):c.571A>C (p.Asn191His)
|
rs2125027486
|
|
NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly)
|
rs2125027483
|
|
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn)
|
|
|
NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg)
|
rs749144062
|
|
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser)
|
|
|
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu)
|
|
|
NM_003183.6(ADAM17):c.671C>T (p.Thr224Met)
|
rs548923032
|
|
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu)
|
rs1553364641
|
|
NM_003183.6(ADAM17):c.738_740del (p.Thr248del)
|
rs777536319
|
|
NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp)
|
rs2125049728
|
|
NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr)
|
rs2125023419
|
|
NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu)
|
rs2125023411
|
|
NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys)
|
rs1664384427
|
|
NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro)
|
rs1664383899
|
|
NM_003183.6(ADAM17):c.844-6G>A
|
|
|
NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)
|
|
|
NM_003183.6(ADAM17):c.948G>A (p.Met316Ile)
|
rs367951580
|
|
NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe)
|
rs779147649
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_003296.4(CRISP2):c.515+968_604+1414del
|
|
|
NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)
|
|
|
NM_003597.5(KLF11):c.*1296T>C
|
rs886054730
|
|
NM_003597.5(KLF11):c.*1495G>A
|
rs886054733
|
|
NM_003597.5(KLF11):c.*1612C>G
|
rs886054734
|
|
NM_003597.5(KLF11):c.*1894A>G
|
rs557209557
|
|
NM_003597.5(KLF11):c.*319C>T
|
rs777727299
|
|
NM_003597.5(KLF11):c.*457A>T
|
rs920552860
|
|
NM_003597.5(KLF11):c.*96dup
|
rs886054725
|
|
NM_003597.5(KLF11):c.-95GCC[7]
|
rs372827624
|
|
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)
|
rs964899969
|
|
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)
|
rs886054724
|
|
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly)
|
rs757875185
|
|
NM_003597.5(KLF11):c.308C>T (p.Thr103Ile)
|
|
|
NM_003597.5(KLF11):c.351A>G (p.Pro117=)
|
rs781433096
|
|
NM_003597.5(KLF11):c.57C>A (p.Asp19Glu)
|
|
|
NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu)
|
rs1057524882
|
|
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg)
|
rs1347317649
|
|
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser)
|
rs1661291203
|
|
NM_003742.4(ABCB11):c.*193G>C
|
rs886055061
|
|
NM_003742.4(ABCB11):c.*26A>G
|
rs762157709
|
|
NM_003742.4(ABCB11):c.*281T>G
|
rs3732038
|
|
NM_003742.4(ABCB11):c.*406A>G
|
rs1213193045
|
|
NM_003742.4(ABCB11):c.*509C>T
|
rs886055059
|
|
NM_003742.4(ABCB11):c.-57C>T
|
rs1695860361
|
|
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=)
|
rs1694080804
|
|
NM_003742.4(ABCB11):c.1197+13C>T
|
rs781492309
|
|
NM_003742.4(ABCB11):c.1197+2T>C
|
rs886055068
|
|
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)
|
rs1558898919
|
|
NM_003742.4(ABCB11):c.1434+5G>A
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
|
|
|
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
|
|
|
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
|
|
|
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=)
|
rs1693471170
|
|
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
|
|
|
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu)
|
rs1695254190
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val)
|
rs1692231118
|
|
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)
|
rs2105912786
|
|
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
|
|
|
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr)
|
rs886055064
|
|
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
|
|
|
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys)
|
rs755362375
|
|
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu)
|
rs886055063
|
|
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His)
|
rs886055062
|
|
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)
|
rs1553545883
|
|
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr)
|
rs754048936
|
|
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser)
|
rs1574398620
|
|
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser)
|
rs1691360150
|
|
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val)
|
rs1163343377
|
|
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp)
|
rs887349193
|
|
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val)
|
rs1691356249
|
|
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
|
|
|
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)
|
rs2105881962
|
|
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)
|
rs761200259
|
|
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
|
|
|
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala)
|
rs1691168576
|
|
NM_003742.4(ABCB11):c.394C>T (p.Leu132=)
|
rs1212884328
|
|
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr)
|
rs776561679
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu)
|
rs762475940
|
|
NM_003742.4(ABCB11):c.585G>A (p.Val195=)
|
rs11568365
|
|
NM_003742.4(ABCB11):c.611+5G>A
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp)
|
rs72551306
|
|
NM_003742.4(ABCB11):c.76+4A>G
|
|
|
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn)
|
rs1558909465
|
|
NM_003924.3(PHOX2B):c.-159C>T
|
rs887117495
|
|
NM_003924.3(PHOX2B):c.-265G>A
|
rs886059415
|
|
NM_003924.4(PHOX2B):c.*1269A>G
|
rs886059412
|
|
NM_003924.4(PHOX2B):c.*12GCG[8]
|
rs763380864
|
|
NM_003924.4(PHOX2B):c.*1334G>C
|
rs1733823205
|
|
NM_003924.4(PHOX2B):c.*1345G>T
|
rs1560464984
|
|
NM_003924.4(PHOX2B):c.*161G>C
|
rs114290493
|
|
NM_003924.4(PHOX2B):c.*18_*19delinsAA
|
|
|
NM_003924.4(PHOX2B):c.*301C>G
|
rs1303150051
|
|
NM_003924.4(PHOX2B):c.*58G>C
|
rs886059413
|
|
NM_003924.4(PHOX2B):c.*680C>G
|
rs1560465172
|
|
NM_003924.4(PHOX2B):c.*789G>A
|
rs1733838098
|
|
NM_003924.4(PHOX2B):c.100A>G (p.Ser34Gly)
|
rs1733985253
|
|
NM_003924.4(PHOX2B):c.100A>T (p.Ser34Cys)
|
|
|
NM_003924.4(PHOX2B):c.106T>G (p.Cys36Gly)
|
rs1733985004
|
|
NM_003924.4(PHOX2B):c.107G>A (p.Cys36Tyr)
|
|
|
NM_003924.4(PHOX2B):c.11T>G (p.Met4Arg)
|
rs1553898240
|
|
NM_003924.4(PHOX2B):c.121G>A (p.Gly41Ser)
|
|
|
NM_003924.4(PHOX2B):c.125T>G (p.Phe42Cys)
|
rs1733984320
|
|
NM_003924.4(PHOX2B):c.129G>C (p.Gln43His)
|
rs1733984074
|
|
NM_003924.4(PHOX2B):c.131A>G (p.Tyr44Cys)
|
|
|
NM_003924.4(PHOX2B):c.134A>G (p.Asn45Ser)
|
|
|
NM_003924.4(PHOX2B):c.136C>T (p.Pro46Ser)
|
rs1553898221
|
|
NM_003924.4(PHOX2B):c.137C>G (p.Pro46Arg)
|
rs1381435898
|
|
NM_003924.4(PHOX2B):c.139A>G (p.Ile47Val)
|
|
|
NM_003924.4(PHOX2B):c.141A>G (p.Ile47Met)
|
rs1577561264
|
|
NM_003924.4(PHOX2B):c.143G>A (p.Arg48Lys)
|
rs1733983472
|
|
NM_003924.4(PHOX2B):c.143G>C (p.Arg48Thr)
|
|
|
NM_003924.4(PHOX2B):c.145A>G (p.Thr49Ala)
|
rs2153113059
|
|
NM_003924.4(PHOX2B):c.145A>T (p.Thr49Ser)
|
|
|
NM_003924.4(PHOX2B):c.155G>A (p.Gly52Glu)
|
|
|
NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)
|
rs1733982922
|
|
NM_003924.4(PHOX2B):c.158C>A (p.Ala53Asp)
|
rs1488529123
|
|
NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)
|
rs1488529123
|
|
NM_003924.4(PHOX2B):c.161C>T (p.Thr54Met)
|
|
|
NM_003924.4(PHOX2B):c.163T>C (p.Ser55Pro)
|
rs1733982336
|
|
NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)
|
rs1733982125
|
|
NM_003924.4(PHOX2B):c.170G>A (p.Cys57Tyr)
|
rs1553898212
|
|
NM_003924.4(PHOX2B):c.172C>T (p.Pro58Ser)
|
rs774739194
|
|
NM_003924.4(PHOX2B):c.178C>T (p.Leu60Phe)
|
rs2153113052
|
|
NM_003924.4(PHOX2B):c.17A>G (p.Tyr6Cys)
|
rs2153113082
|
|
NM_003924.4(PHOX2B):c.181A>G (p.Thr61Ala)
|
rs1273459140
|
|
NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala)
|
rs1458869707
|
|
NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)
|
rs1733981070
|
|
NM_003924.4(PHOX2B):c.194G>A (p.Cys65Tyr)
|
rs2153113045
|
|
NM_003924.4(PHOX2B):c.194G>T (p.Cys65Phe)
|
|
|
NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)
|
|
|
NM_003924.4(PHOX2B):c.206C>A (p.Thr69Asn)
|
rs1339095355
|
|
NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)
|
rs1242397056
|
|
NM_003924.4(PHOX2B):c.214G>A (p.Asp72Asn)
|
rs1733980369
|
|
NM_003924.4(PHOX2B):c.216C>G (p.Asp72Glu)
|
rs1733980273
|
|
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)
|
rs1577561176
|
|
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
|
rs1733979302
|
|
NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)
|
|
|
NM_003924.4(PHOX2B):c.238G>C (p.Ala80Pro)
|
|
|
NM_003924.4(PHOX2B):c.238G>T (p.Ala80Ser)
|
rs550472167
|
|
NM_003924.4(PHOX2B):c.241+4A>G
|
|
|
NM_003924.4(PHOX2B):c.241+5G>A
|
rs1733979107
|
|
NM_003924.4(PHOX2B):c.241+6G>C
|
rs776614949
|
|
NM_003924.4(PHOX2B):c.241+6G>T
|
rs776614949
|
|
NM_003924.4(PHOX2B):c.242-5_242-2dup
|
rs1553898065
|
|
NM_003924.4(PHOX2B):c.245C>G (p.Pro82Arg)
|
rs1733949825
|
|
NM_003924.4(PHOX2B):c.247T>C (p.Tyr83His)
|
rs2153112951
|
|
NM_003924.4(PHOX2B):c.250A>C (p.Lys84Gln)
|
rs2153112950
|
|
NM_003924.4(PHOX2B):c.253C>T (p.Leu85Phe)
|
rs766200980
|
|
NM_003924.4(PHOX2B):c.256T>A (p.Phe86Ile)
|
rs1733949305
|
|
NM_003924.4(PHOX2B):c.262G>C (p.Asp88His)
|
rs1402111533
|
|
NM_003924.4(PHOX2B):c.264C>G (p.Asp88Glu)
|
rs1560466325
|
|
NM_003924.4(PHOX2B):c.265C>T (p.His89Tyr)
|
rs755664325
|
|
NM_003924.4(PHOX2B):c.266A>T (p.His89Leu)
|
|
|
NM_003924.4(PHOX2B):c.268G>A (p.Gly90Ser)
|
|
|
NM_003924.4(PHOX2B):c.268G>T (p.Gly90Cys)
|
|
|
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)
|
rs2153113080
|
|
NM_003924.4(PHOX2B):c.286C>A (p.Arg96Ser)
|
rs1450088667
|
|
NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly)
|
rs1450088667
|
|
NM_003924.4(PHOX2B):c.290A>C (p.Lys97Thr)
|
rs1060501123
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
NM_003924.4(PHOX2B):c.302T>C (p.Ile101Thr)
|
rs1560466295
|
|
NM_003924.4(PHOX2B):c.311C>A (p.Thr104Asn)
|
|
|
NM_003924.4(PHOX2B):c.319A>G (p.Ser107Gly)
|
rs762806075
|
|
NM_003924.4(PHOX2B):c.323C>T (p.Ala108Val)
|
rs956551152
|
|
NM_003924.4(PHOX2B):c.331A>C (p.Lys111Gln)
|
|
|
NM_003924.4(PHOX2B):c.334G>A (p.Glu112Lys)
|
rs1432370889
|
|
NM_003924.4(PHOX2B):c.335A>T (p.Glu112Val)
|
rs1553898048
|
|
NM_003924.4(PHOX2B):c.341A>C (p.Glu114Ala)
|
rs1733945578
|
|
NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys)
|
rs1347766910
|
|
NM_003924.4(PHOX2B):c.344G>C (p.Arg115Thr)
|
rs1347766910
|
|
NM_003924.4(PHOX2B):c.346G>A (p.Val116Ile)
|
|
|
NM_003924.4(PHOX2B):c.352G>T (p.Ala118Ser)
|
rs1733944708
|
|
NM_003924.4(PHOX2B):c.353C>T (p.Ala118Val)
|
|
|
NM_003924.4(PHOX2B):c.379A>T (p.Thr127Ser)
|
|
|
NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn)
|
rs2153112934
|
|
NM_003924.4(PHOX2B):c.380C>T (p.Thr127Ile)
|
rs2153112934
|
|
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)
|
rs1560466246
|
|
NM_003924.4(PHOX2B):c.391C>A (p.Leu131Met)
|
rs748614674
|
|
NM_003924.4(PHOX2B):c.394G>T (p.Ala132Ser)
|
rs2153112932
|
|
NM_003924.4(PHOX2B):c.398T>A (p.Leu133Gln)
|
rs1553898022
|
|
NM_003924.4(PHOX2B):c.403A>G (p.Ile135Val)
|
rs1577560221
|
|
NM_003924.4(PHOX2B):c.404T>A (p.Ile135Asn)
|
rs2153112927
|
|
NM_003924.4(PHOX2B):c.406G>A (p.Asp136Asn)
|
rs2153112925
|
|
NM_003924.4(PHOX2B):c.409C>T (p.Leu137Phe)
|
rs1577560208
|
|
NM_003924.4(PHOX2B):c.429+4C>A
|
rs1173248729
|
|
NM_003924.4(PHOX2B):c.429+5G>T
|
rs1278623787
|
|
NM_003924.4(PHOX2B):c.429+6C>T
|
|
|
NM_003924.4(PHOX2B):c.430-2A>G
|
rs2153112822
|
|
NM_003924.4(PHOX2B):c.430-3C>T
|
|
|
NM_003924.4(PHOX2B):c.446G>A (p.Arg149His)
|
|
|
NM_003924.4(PHOX2B):c.452C>T (p.Ala151Val)
|
|
|
NM_003924.4(PHOX2B):c.455A>G (p.Lys152Arg)
|
|
|
NM_003924.4(PHOX2B):c.475G>A (p.Ala159Thr)
|
|
|
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)
|
rs1162776926
|
|
NM_003924.4(PHOX2B):c.476C>T (p.Ala159Val)
|
rs1733898242
|
|
NM_003924.4(PHOX2B):c.479C>G (p.Ala160Gly)
|
rs1577559372
|
|
NM_003924.4(PHOX2B):c.483_494del (p.Ala164_Ala167del)
|
|
|
NM_003924.4(PHOX2B):c.483_494dup (p.Ala164_Ala167dup)
|
rs1351806501
|
|
NM_003924.4(PHOX2B):c.484_501dup (p.Ala162_Ala167dup)
|
rs2153112812
|
|
NM_003924.4(PHOX2B):c.486_497dup (p.Ala164_Ala167dup)
|
rs1733897154
|
|
NM_003924.4(PHOX2B):c.487G>A (p.Ala163Thr)
|
rs767837376
|
|
NM_003924.4(PHOX2B):c.487G>T (p.Ala163Ser)
|
rs767837376
|
|
NM_003924.4(PHOX2B):c.490GCGGCC[3] (p.Ala166_Ala167dup)
|
rs1733896798
|
|
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)
|
rs1338837491
|
|
NM_003924.4(PHOX2B):c.49T>C (p.Cys17Arg)
|
|
|
NM_003924.4(PHOX2B):c.507C>A (p.Asn169Lys)
|
rs2153112810
|
|
NM_003924.4(PHOX2B):c.508G>A (p.Gly170Ser)
|
rs775931264
|
|
NM_003924.4(PHOX2B):c.508G>T (p.Gly170Cys)
|
rs775931264
|
|
NM_003924.4(PHOX2B):c.509G>A (p.Gly170Asp)
|
|
|
NM_003924.4(PHOX2B):c.512C>G (p.Ser171Cys)
|
rs1733896388
|
|
NM_003924.4(PHOX2B):c.512C>T (p.Ser171Phe)
|
|
|
NM_003924.4(PHOX2B):c.515C>G (p.Ser172Trp)
|
rs1560465736
|
|
NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu)
|
rs1560465736
|
|
NM_003924.4(PHOX2B):c.518G>A (p.Gly173Asp)
|
rs866814213
|
|
NM_003924.4(PHOX2B):c.518G>T (p.Gly173Val)
|
rs866814213
|
|
NM_003924.4(PHOX2B):c.520A>G (p.Lys174Glu)
|
rs1733895906
|
|
NM_003924.4(PHOX2B):c.523A>C (p.Lys175Gln)
|
|
|
NM_003924.4(PHOX2B):c.524A>G (p.Lys175Arg)
|
rs1060501119
|
|
NM_003924.4(PHOX2B):c.524A>T (p.Lys175Met)
|
rs1060501119
|
|
NM_003924.4(PHOX2B):c.532T>A (p.Ser178Thr)
|
rs1577559313
|
|
NM_003924.4(PHOX2B):c.533C>T (p.Ser178Phe)
|
rs2153112806
|
|
NM_003924.4(PHOX2B):c.538A>T (p.Arg180Trp)
|
|
|
NM_003924.4(PHOX2B):c.543C>G (p.Asp181Glu)
|
|
|
NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn)
|
rs1462979811
|
|
NM_003924.4(PHOX2B):c.545A>C (p.Asp182Ala)
|
rs2153112804
|
|
NM_003924.4(PHOX2B):c.545A>G (p.Asp182Gly)
|
|
|
NM_003924.4(PHOX2B):c.546C>A (p.Asp182Glu)
|
rs1733894646
|
|
NM_003924.4(PHOX2B):c.547G>A (p.Glu183Lys)
|
|
|
NM_003924.4(PHOX2B):c.54G>A (p.Met18Ile)
|
rs2153113073
|
|
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)
|
rs1733894415
|
|
NM_003924.4(PHOX2B):c.553A>G (p.Lys185Glu)
|
rs1733894210
|
|
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)
|
rs1560465720
|
|
NM_003924.4(PHOX2B):c.560C>T (p.Ala187Val)
|
rs1191400815
|
|
NM_003924.4(PHOX2B):c.564G>C (p.Lys188Asn)
|
rs1733892834
|
|
NM_003924.4(PHOX2B):c.564G>T (p.Lys188Asn)
|
|
|
NM_003924.4(PHOX2B):c.567C>G (p.Ser189Arg)
|
|
|
NM_003924.4(PHOX2B):c.569C>T (p.Thr190Ile)
|
rs2153112800
|
|
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)
|
rs1353983410
|
|
NM_003924.4(PHOX2B):c.575C>T (p.Pro192Leu)
|
rs1733892653
|
|
NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)
|
rs1577559273
|
|
NM_003924.4(PHOX2B):c.579C>A (p.Asp193Glu)
|
rs1733892452
|
|
NM_003924.4(PHOX2B):c.579C>G (p.Asp193Glu)
|
rs1733892452
|
|
NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn)
|
|
|
NM_003924.4(PHOX2B):c.590G>T (p.Gly197Val)
|
rs104893856
|
|
NM_003924.4(PHOX2B):c.592C>T (p.Pro198Ser)
|
|
|
NM_003924.4(PHOX2B):c.593C>A (p.Pro198Gln)
|
|
|
NM_003924.4(PHOX2B):c.599C>A (p.Pro200His)
|
rs964285984
|
|
NM_003924.4(PHOX2B):c.5A>G (p.Tyr2Cys)
|
rs2153113087
|
|
NM_003924.4(PHOX2B):c.603T>A (p.Asn201Lys)
|
rs1553897857
|
|
NM_003924.4(PHOX2B):c.605C>G (p.Pro202Arg)
|
|
|
NM_003924.4(PHOX2B):c.605C>T (p.Pro202Leu)
|
|
|
NM_003924.4(PHOX2B):c.608A>C (p.Asn203Thr)
|
rs778887680
|
|
NM_003924.4(PHOX2B):c.608A>G (p.Asn203Ser)
|
rs778887680
|
|
NM_003924.4(PHOX2B):c.608A>T (p.Asn203Ile)
|
rs778887680
|
|
NM_003924.4(PHOX2B):c.610C>A (p.Pro204Thr)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.610C>T (p.Pro204Ser)
|
|
|
NM_003924.4(PHOX2B):c.616C>T (p.Pro206Ser)
|
rs754754489
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.617C>T (p.Pro206Leu)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.619A>G (p.Ser207Gly)
|
|
|
NM_003924.4(PHOX2B):c.61A>C (p.Met21Leu)
|
rs780786684
|
|
NM_003924.4(PHOX2B):c.620G>T (p.Ser207Ile)
|
|
|
NM_003924.4(PHOX2B):c.624C>G (p.Cys208Trp)
|
|
|
NM_003924.4(PHOX2B):c.628G>C (p.Ala210Pro)
|
|
|
NM_003924.4(PHOX2B):c.629C>A (p.Ala210Glu)
|
rs1442934701
|
|
NM_003924.4(PHOX2B):c.632A>G (p.Asn211Ser)
|
rs1733890628
|
|
NM_003924.4(PHOX2B):c.633T>G (p.Asn211Lys)
|
rs1060501120
|
|
NM_003924.4(PHOX2B):c.635G>C (p.Gly212Ala)
|
rs1733890495
|
|
NM_003924.4(PHOX2B):c.636_641dup (p.Gly216_Gly217dup)
|
rs1553897847
|
|
NM_003924.4(PHOX2B):c.638G>T (p.Gly213Val)
|
rs1328014263
|
|
NM_003924.4(PHOX2B):c.639CGG[3] (p.Gly217del)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.640G>T (p.Gly214Cys)
|
rs776131193
|
|
NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala)
|
rs1733890084
|
|
NM_003924.4(PHOX2B):c.641G>T (p.Gly214Val)
|
|
|
NM_003924.4(PHOX2B):c.641_642delinsAA (p.Gly214Glu)
|
rs1733890028
|
|
NM_003924.4(PHOX2B):c.644G>A (p.Gly215Asp)
|
rs2153112790
|
|
NM_003924.4(PHOX2B):c.646G>A (p.Gly216Ser)
|
rs2153112789
|
|
NM_003924.4(PHOX2B):c.649G>C (p.Gly217Arg)
|
rs759792321
|
|
NM_003924.4(PHOX2B):c.652C>T (p.Pro218Ser)
|
|
|
NM_003924.4(PHOX2B):c.655A>G (p.Ser219Gly)
|
rs1560465666
|
|
NM_003924.4(PHOX2B):c.656G>A (p.Ser219Asn)
|
rs1733887381
|
|
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)
|
rs1194972256
|
|
NM_003924.4(PHOX2B):c.658C>A (p.Pro220Thr)
|
|
|
NM_003924.4(PHOX2B):c.659C>G (p.Pro220Arg)
|
rs1733887201
|
|
NM_003924.4(PHOX2B):c.659C>T (p.Pro220Leu)
|
rs1733887201
|
|
NM_003924.4(PHOX2B):c.661G>C (p.Ala221Pro)
|
rs746684161
|
|
NM_003924.4(PHOX2B):c.667G>A (p.Ala223Thr)
|
rs747713899
|
|
NM_003924.4(PHOX2B):c.671C>T (p.Pro224Leu)
|
rs1733886361
|
|
NM_003924.4(PHOX2B):c.673G>C (p.Gly225Arg)
|
|
|
NM_003924.4(PHOX2B):c.676G>A (p.Ala226Thr)
|
rs936469212
|
|
NM_003924.4(PHOX2B):c.676G>C (p.Ala226Pro)
|
rs936469212
|
|
NM_003924.4(PHOX2B):c.677C>G (p.Ala226Gly)
|
|
|
NM_003924.4(PHOX2B):c.677C>T (p.Ala226Val)
|
rs926554947
|
|
NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr)
|
rs778799670
|
|
NM_003924.4(PHOX2B):c.679_680delinsTT (p.Ala227Leu)
|
rs1577559108
|
|
NM_003924.4(PHOX2B):c.680C>A (p.Ala227Glu)
|
rs779913205
|
|
NM_003924.4(PHOX2B):c.685C>A (p.Pro229Thr)
|
rs1328080249
|
|
NM_003924.4(PHOX2B):c.688G>A (p.Gly230Arg)
|
rs1733884523
|
|
NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg)
|
rs1733884523
|
|
NM_003924.4(PHOX2B):c.689G>A (p.Gly230Glu)
|
rs1577559086
|
|
NM_003924.4(PHOX2B):c.689G>C (p.Gly230Ala)
|
rs1577559086
|
|
NM_003924.4(PHOX2B):c.68C>G (p.Thr23Ser)
|
rs1389889634
|
|
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser)
|
rs1577559082
|
|
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
|
|
|
NM_003924.4(PHOX2B):c.695C>T (p.Pro232Leu)
|
|
|
NM_003924.4(PHOX2B):c.698G>C (p.Gly233Ala)
|
|
|
NM_003924.4(PHOX2B):c.700G>A (p.Gly234Ser)
|
rs1289310797
|
|
NM_003924.4(PHOX2B):c.703G>T (p.Glu235Ter)
|
rs1733883652
|
|
NM_003924.4(PHOX2B):c.707C>T (p.Pro236Leu)
|
rs2153112776
|
|
NM_003924.4(PHOX2B):c.709G>A (p.Gly237Ser)
|
rs1256766962
|
|
NM_003924.4(PHOX2B):c.709G>T (p.Gly237Cys)
|
|
|
NM_003924.4(PHOX2B):c.710G>A (p.Gly237Asp)
|
rs1468135641
|
|
NM_003924.4(PHOX2B):c.710G>C (p.Gly237Ala)
|
rs1468135641
|
|
NM_003924.4(PHOX2B):c.713A>G (p.Lys238Arg)
|
rs1733883244
|
|
NM_003924.4(PHOX2B):c.714G>T (p.Lys238Asn)
|
rs1553897810
|
|
NM_003924.4(PHOX2B):c.715G>A (p.Gly239Ser)
|
rs1577559055
|
|
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp)
|
rs1577559052
|
|
NM_003924.4(PHOX2B):c.716G>T (p.Gly239Val)
|
rs1577559052
|
|
NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)
|
rs1183113572
|
|
NM_003924.4(PHOX2B):c.721G>A (p.Ala241Thr)
|
|
|
NM_003924.4(PHOX2B):c.721G>C (p.Ala241Pro)
|
|
|
NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val)
|
rs1733882577
|
|
NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del)
|
rs772448418
|
|
NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val)
|
rs1191194818
|
|
NM_003924.4(PHOX2B):c.732_733insTCG (p.Ala244_Ala245insSer)
|
rs1733882011
|
|
NM_003924.4(PHOX2B):c.733G>A (p.Ala245Thr)
|
rs2153112768
|
|
NM_003924.4(PHOX2B):c.734C>T (p.Ala245Val)
|
rs1733881745
|
|
NM_003924.4(PHOX2B):c.739G>A (p.Ala247Thr)
|
rs1733881500
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_003924.4(PHOX2B):c.743C>A (p.Ala248Glu)
|
rs1733881041
|
|
NM_003924.4(PHOX2B):c.743C>T (p.Ala248Val)
|
rs1733881041
|
|
NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr)
|
rs1276685806
|
|
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
|
|
|
NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu)
|
rs765803171
|
|
NM_003924.4(PHOX2B):c.74G>A (p.Ser25Asn)
|
|
|
NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr)
|
rs2153113067
|
|
NM_003924.4(PHOX2B):c.750GGC[5] (p.Ala260dup)
|
rs955563168
|
|
NM_003924.4(PHOX2B):c.752C>T (p.Ala251Val)
|
rs2153112764
|
|
NM_003924.4(PHOX2B):c.75C>A (p.Ser25Arg)
|
rs1733986571
|
|
NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)
|
|
|
NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)
|
rs1157597283
|
|
NM_003924.4(PHOX2B):c.767_768insGGCGGCGTCAGCGGC (p.255_258A[4]SAAAA[1])
|
rs2153112761
|
|
NM_003924.4(PHOX2B):c.76C>G (p.Leu26Val)
|
rs1358966233
|
|
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)
|
rs2153112760
|
|
NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup)
|
rs17886470
|
|
NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)
|
|
|
NM_003924.4(PHOX2B):c.775G>A (p.Ala259Thr)
|
|
|
NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)
|
rs1383528417
|
|
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
|
|
|
NM_003924.4(PHOX2B):c.779C>T (p.Ala260Val)
|
rs1060501125
|
|
NM_003924.4(PHOX2B):c.782G>A (p.Gly261Glu)
|
rs1733874037
|
|
NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp)
|
rs768420488
|
|
NM_003924.4(PHOX2B):c.787C>G (p.Leu263Val)
|
|
|
NM_003924.4(PHOX2B):c.788T>C (p.Leu263Pro)
|
rs1733873637
|
|
NM_003924.4(PHOX2B):c.788T>G (p.Leu263Arg)
|
|
|
NM_003924.4(PHOX2B):c.790G>A (p.Ala264Thr)
|
rs1320695099
|
|
NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser)
|
rs1320695099
|
|
NM_003924.4(PHOX2B):c.794C>G (p.Ala265Gly)
|
|
|
NM_003924.4(PHOX2B):c.794C>T (p.Ala265Val)
|
rs1733873222
|
|
NM_003924.4(PHOX2B):c.797C>G (p.Ala266Gly)
|
|
|
NM_003924.4(PHOX2B):c.7A>C (p.Lys3Gln)
|
rs2153113086
|
|
NM_003924.4(PHOX2B):c.802G>A (p.Gly268Ser)
|
rs758728895
|
|
NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)
|
rs765369462
|
|
NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)
|
rs765369462
|
|
NM_003924.4(PHOX2B):c.808G>A (p.Gly270Arg)
|
rs1553897753
|
|
NM_003924.4(PHOX2B):c.808G>C (p.Gly270Arg)
|
rs1553897753
|
|
NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu)
|
rs1577558821
|
|
NM_003924.4(PHOX2B):c.809G>T (p.Gly270Val)
|
rs1577558821
|
|
NM_003924.4(PHOX2B):c.811C>T (p.Gln271Ter)
|
rs1733871948
|
|
NM_003924.4(PHOX2B):c.811_847del (p.Gln271fs)
|
rs1733869585
|
|
NM_003924.4(PHOX2B):c.812A>C (p.Gln271Pro)
|
rs1334079108
|
|
NM_003924.4(PHOX2B):c.815G>A (p.Gly272Asp)
|
rs1355806826
|
|
NM_003924.4(PHOX2B):c.815G>C (p.Gly272Ala)
|
|
|
NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val)
|
rs1355806826
|
|
NM_003924.4(PHOX2B):c.820G>A (p.Ala274Thr)
|
rs2153112751
|
|
NM_003924.4(PHOX2B):c.820G>C (p.Ala274Pro)
|
|
|
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
|
rs752879767
|
|
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
|
|
|
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)
|
rs1469920302
|
|
NM_003924.4(PHOX2B):c.830C>A (p.Pro277His)
|
|
|
NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu)
|
rs1733871030
|
|
NM_003924.4(PHOX2B):c.833G>T (p.Gly278Val)
|
rs1577558795
|
|
NM_003924.4(PHOX2B):c.833_838dup (p.Pro279_Ile280insSerPro)
|
rs2153112747
|
|
NM_003924.4(PHOX2B):c.835C>A (p.Pro279Thr)
|
rs1733870407
|
|
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
|
rs1733870310
|
|
NM_003924.4(PHOX2B):c.838A>G (p.Ile280Val)
|
rs1560465480
|
|
NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro)
|
rs1733869871
|
|
NM_003924.4(PHOX2B):c.845C>G (p.Ser282Cys)
|
rs1577558774
|
|
NM_003924.4(PHOX2B):c.847A>C (p.Ile283Leu)
|
|
|
NM_003924.4(PHOX2B):c.848T>A (p.Ile283Asn)
|
rs2153112744
|
|
NM_003924.4(PHOX2B):c.848T>C (p.Ile283Thr)
|
|
|
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
|
rs1733869488
|
|
NM_003924.4(PHOX2B):c.850C>A (p.Pro284Thr)
|
rs2153112743
|
|
NM_003924.4(PHOX2B):c.850C>G (p.Pro284Ala)
|
rs2153112743
|
|
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
|
rs1462459716
|
|
NM_003924.4(PHOX2B):c.854A>C (p.Asp285Ala)
|
rs1733868910
|
|
NM_003924.4(PHOX2B):c.85G>T (p.Ala29Ser)
|
|
|
NM_003924.4(PHOX2B):c.860T>G (p.Leu287Arg)
|
|
|
NM_003924.4(PHOX2B):c.862G>A (p.Gly288Arg)
|
|
|
NM_003924.4(PHOX2B):c.866G>A (p.Gly289Asp)
|
rs2153112739
|
|
NM_003924.4(PHOX2B):c.868C>G (p.Pro290Ala)
|
rs2153112737
|
|
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
|
|
|
NM_003924.4(PHOX2B):c.875C>T (p.Ala292Val)
|
rs2153112734
|
|
NM_003924.4(PHOX2B):c.880G>C (p.Val294Leu)
|
rs772358257
|
|
NM_003924.4(PHOX2B):c.88T>G (p.Tyr30Asp)
|
rs1060501122
|
|
NM_003924.4(PHOX2B):c.890C>T (p.Ser297Leu)
|
rs2153112732
|
|
NM_003924.4(PHOX2B):c.896A>G (p.Gln299Arg)
|
|
|
NM_003924.4(PHOX2B):c.898A>T (p.Arg300Ter)
|
rs2153112730
|
|
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)
|
rs1577558708
|
|
NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr)
|
rs779068107
|
|
NM_003924.4(PHOX2B):c.906C>A (p.Asn302Lys)
|
rs1368103166
|
|
NM_003924.4(PHOX2B):c.906C>G (p.Asn302Lys)
|
rs1368103166
|
|
NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)
|
|
|
NM_003924.4(PHOX2B):c.911C>A (p.Ala304Asp)
|
rs2153112728
|
|
NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr)
|
rs780578509
|
|
NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser)
|
rs780578509
|
|
NM_003924.4(PHOX2B):c.91G>A (p.Ala31Thr)
|
rs2153113064
|
|
NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)
|
rs1420729662
|
|
NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)
|
rs756644504
|
|
NM_003924.4(PHOX2B):c.925G>C (p.Val309Leu)
|
rs756644504
|
|
NM_003924.4(PHOX2B):c.926T>A (p.Val309Glu)
|
|
|
NM_003924.4(PHOX2B):c.933C>G (p.Ser311Arg)
|
|
|
NM_003924.4(PHOX2B):c.937A>G (p.Met313Val)
|
rs1560465426
|
|
NM_003924.4(PHOX2B):c.938T>C (p.Met313Thr)
|
|
|
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
|
rs1733865401
|
|
NM_003924.4(PHOX2B):c.940T>G (p.Phe314Val)
|
|
|
NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1690G>A (p.Glu564Lys)
|
rs2126633227
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del)
|
rs756714075
|
|
NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)
|
rs533680685
|
|
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)
|
rs267606667
|
|
NM_004329.2(BMPR1A):c.-152-?_333+?dup
|
|
|
NM_004329.3(BMPR1A):c.*1056A>C
|
rs1013976124
|
|
NM_004329.3(BMPR1A):c.*545G>A
|
rs12773754
|
|
NM_004329.3(BMPR1A):c.*641A>C
|
rs1234049470
|
|
NM_004329.3(BMPR1A):c.*746A>G
|
rs61856965
|
|
NM_004329.3(BMPR1A):c.*893T>C
|
rs200051592
|
|
NM_004329.3(BMPR1A):c.*946A>G
|
rs61856966
|
|
NM_004329.3(BMPR1A):c.-140A>G
|
rs886047359
|
|
NM_004329.3(BMPR1A):c.-268+37418C>T
|
|
|
NM_004329.3(BMPR1A):c.-287A>G
|
rs730881438
|
|
NM_004329.3(BMPR1A):c.-314C>T
|
rs1589700298
|
|
NM_004329.3(BMPR1A):c.-447T>C
|
rs886047358
|
|
NM_004329.3(BMPR1A):c.1006T>C (p.Tyr336His)
|
rs876658840
|
|
NM_004329.3(BMPR1A):c.1009T>G (p.Ser337Ala)
|
rs1589291671
|
|
NM_004329.3(BMPR1A):c.100G>A (p.Gly34Arg)
|
rs1589763328
|
|
NM_004329.3(BMPR1A):c.100G>T (p.Gly34Trp)
|
rs1589763328
|
|
NM_004329.3(BMPR1A):c.1012G>T (p.Ala338Ser)
|
rs1564724239
|
|
NM_004329.3(BMPR1A):c.1015G>A (p.Ala339Thr)
|
rs758432395
|
|
NM_004329.3(BMPR1A):c.101G>C (p.Gly34Ala)
|
rs730881430
|
|
NM_004329.3(BMPR1A):c.1021G>A (p.Gly341Ser)
|
rs1554891077
|
|
NM_004329.3(BMPR1A):c.1022G>A (p.Gly341Asp)
|
rs1564724250
|
|
NM_004329.3(BMPR1A):c.1022G>C (p.Gly341Ala)
|
rs1564724250
|
|
NM_004329.3(BMPR1A):c.1022G>T (p.Gly341Val)
|
rs1564724250
|
|
NM_004329.3(BMPR1A):c.1031A>G (p.His344Arg)
|
rs1843626230
|
|
NM_004329.3(BMPR1A):c.1039A>G (p.Thr347Ala)
|
rs1589291709
|
|
NM_004329.3(BMPR1A):c.103A>G (p.Met35Val)
|
rs1043850286
|
|
NM_004329.3(BMPR1A):c.1042G>C (p.Glu348Gln)
|
rs1060503398
|
|
NM_004329.3(BMPR1A):c.1044A>T (p.Glu348Asp)
|
rs781082609
|
|
NM_004329.3(BMPR1A):c.1049A>G (p.Tyr350Cys)
|
rs1589291722
|
|
NM_004329.3(BMPR1A):c.1049A>T (p.Tyr350Phe)
|
rs1589291722
|
|
NM_004329.3(BMPR1A):c.104T>A (p.Met35Lys)
|
rs2133394661
|
|
NM_004329.3(BMPR1A):c.104T>C (p.Met35Thr)
|
rs2133394661
|
|
NM_004329.3(BMPR1A):c.104T>G (p.Met35Arg)
|
|
|
NM_004329.3(BMPR1A):c.1061G>A (p.Gly354Glu)
|
|
|
NM_004329.3(BMPR1A):c.1066C>A (p.Pro356Thr)
|
rs774555805
|
|
NM_004329.3(BMPR1A):c.1067C>G (p.Pro356Arg)
|
rs1589291749
|
|
NM_004329.3(BMPR1A):c.1069G>C (p.Ala357Pro)
|
rs201509164
|
|
NM_004329.3(BMPR1A):c.1072A>G (p.Ile358Val)
|
rs2133592838
|
|
NM_004329.3(BMPR1A):c.1075G>A (p.Ala359Thr)
|
|
|
NM_004329.3(BMPR1A):c.1076C>T (p.Ala359Val)
|
rs1843627289
|
|
NM_004329.3(BMPR1A):c.107A>C (p.Lys36Thr)
|
rs1564714779
|
|
NM_004329.3(BMPR1A):c.1082G>A (p.Arg361Gln)
|
rs730881436
|
|
NM_004329.3(BMPR1A):c.1084G>A (p.Asp362Asn)
|
rs1564724297
|
|
NM_004329.3(BMPR1A):c.1084G>C (p.Asp362His)
|
|
|
NM_004329.3(BMPR1A):c.1087C>G (p.Leu363Val)
|
|
|
NM_004329.3(BMPR1A):c.1094G>A (p.Ser365Asn)
|
rs1843627623
|
|
NM_004329.3(BMPR1A):c.1096A>C (p.Lys366Gln)
|
rs1589291778
|
|
NM_004329.3(BMPR1A):c.1097A>G (p.Lys366Arg)
|
rs1564724310
|
|
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn)
|
rs1060503397
|
|
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val)
|
rs1589291789
|
|
NM_004329.3(BMPR1A):c.1102A>T (p.Ile368Phe)
|
rs1589291789
|
|
NM_004329.3(BMPR1A):c.1105C>A (p.Leu369Ile)
|
rs1843628076
|
|
NM_004329.3(BMPR1A):c.1105C>T (p.Leu369Phe)
|
rs1843628076
|
|
NM_004329.3(BMPR1A):c.1116A>C (p.Lys372Asn)
|
rs2133593509
|
|
NM_004329.3(BMPR1A):c.1117A>G (p.Asn373Asp)
|
|
|
NM_004329.3(BMPR1A):c.1118A>G (p.Asn373Ser)
|
rs1281108621
|
|
NM_004329.3(BMPR1A):c.1120G>T (p.Gly374Trp)
|
rs2133593589
|
|
NM_004329.3(BMPR1A):c.112G>C (p.Asp38His)
|
rs1554888103
|
|
NM_004329.3(BMPR1A):c.112G>T (p.Asp38Tyr)
|
|
|
NM_004329.3(BMPR1A):c.1132A>G (p.Ile378Val)
|
|
|
NM_004329.3(BMPR1A):c.1138G>C (p.Asp380His)
|
|
|
NM_004329.3(BMPR1A):c.1141C>G (p.Leu381Val)
|
rs864622566
|
|
NM_004329.3(BMPR1A):c.1144G>A (p.Gly382Ser)
|
|
|
NM_004329.3(BMPR1A):c.1144G>T (p.Gly382Cys)
|
|
|
NM_004329.3(BMPR1A):c.1147C>T (p.Leu383Phe)
|
rs1843628800
|
|
NM_004329.3(BMPR1A):c.1148T>G (p.Leu383Arg)
|
rs2133594103
|
|
NM_004329.3(BMPR1A):c.114C>G (p.Asp38Glu)
|
rs1021443408
|
|
NM_004329.3(BMPR1A):c.1150G>A (p.Ala384Thr)
|
|
|
NM_004329.3(BMPR1A):c.1150G>T (p.Ala384Ser)
|
rs1843628839
|
|
NM_004329.3(BMPR1A):c.1157A>C (p.Lys386Thr)
|
rs2133594262
|
|
NM_004329.3(BMPR1A):c.1158A>G (p.Lys386=)
|
|
|
NM_004329.3(BMPR1A):c.1163A>G (p.Asn388Ser)
|
|
|
NM_004329.3(BMPR1A):c.1163A>T (p.Asn388Ile)
|
rs1843628997
|
|
NM_004329.3(BMPR1A):c.1166+2dup
|
|
|
NM_004329.3(BMPR1A):c.1166+3G>A
|
|
|
NM_004329.3(BMPR1A):c.1166+3G>C
|
|
|
NM_004329.3(BMPR1A):c.1166+3del
|
|
|
NM_004329.3(BMPR1A):c.1166+4A>G
|
|
|
NM_004329.3(BMPR1A):c.1166+5G>A
|
rs1843629187
|
|
NM_004329.3(BMPR1A):c.1166+5G>T
|
rs1843629187
|
|
NM_004329.3(BMPR1A):c.1166G>A (p.Ser389Asn)
|
rs879254049
|
|
NM_004329.3(BMPR1A):c.1167-13T>G
|
rs1057517581
|
|
NM_004329.3(BMPR1A):c.1167-3C>A
|
|
|
NM_004329.3(BMPR1A):c.1167T>G (p.Ser389Arg)
|
rs1564724948
|
|
NM_004329.3(BMPR1A):c.1169A>T (p.Asp390Val)
|
|
|
NM_004329.3(BMPR1A):c.116C>T (p.Ser39Phe)
|
rs876658859
|
|
NM_004329.3(BMPR1A):c.1171A>T (p.Thr391Ser)
|
rs1554891310
|
|
NM_004329.3(BMPR1A):c.1172C>G (p.Thr391Arg)
|
rs1589292560
|
|
NM_004329.3(BMPR1A):c.1172C>T (p.Thr391Ile)
|
|
|
NM_004329.3(BMPR1A):c.1174A>G (p.Asn392Asp)
|
rs1589292564
|
|
NM_004329.3(BMPR1A):c.1175A>G (p.Asn392Ser)
|
rs1554891311
|
|
NM_004329.3(BMPR1A):c.1178A>T (p.Glu393Val)
|
rs1589292573
|
|
NM_004329.3(BMPR1A):c.1180G>A (p.Val394Ile)
|
|
|
NM_004329.3(BMPR1A):c.1181T>C (p.Val394Ala)
|
rs2133605898
|
|
NM_004329.3(BMPR1A):c.1186G>A (p.Val396Met)
|
rs1161972977
|
|
NM_004329.3(BMPR1A):c.1189C>T (p.Pro397Ser)
|
rs1843665120
|
|
NM_004329.3(BMPR1A):c.118G>C (p.Asp40His)
|
rs587781556
|
|
NM_004329.3(BMPR1A):c.118G>T (p.Asp40Tyr)
|
rs587781556
|
|
NM_004329.3(BMPR1A):c.1190C>T (p.Pro397Leu)
|
rs878854662
|
|
NM_004329.3(BMPR1A):c.1196A>G (p.Asn399Ser)
|
rs1554891315
|
|
NM_004329.3(BMPR1A):c.1199C>A (p.Thr400Asn)
|
rs1554891317
|
|
NM_004329.3(BMPR1A):c.1199C>G (p.Thr400Ser)
|
rs1554891317
|
|
NM_004329.3(BMPR1A):c.119A>G (p.Asp40Gly)
|
rs1060503403
|
|
NM_004329.3(BMPR1A):c.119A>T (p.Asp40Val)
|
rs1060503403
|
|
NM_004329.3(BMPR1A):c.1210A>C (p.Thr404Pro)
|
|
|
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg)
|
rs1064795593
|
|
NM_004329.3(BMPR1A):c.1217G>A (p.Arg406His)
|
rs587780107
|
|
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu)
|
rs587780107
|
|
NM_004329.3(BMPR1A):c.1220A>G (p.Tyr407Cys)
|
rs1554891322
|
|
NM_004329.3(BMPR1A):c.1222A>C (p.Met408Leu)
|
|
|
NM_004329.3(BMPR1A):c.1223T>A (p.Met408Lys)
|
|
|
NM_004329.3(BMPR1A):c.1224G>A (p.Met408Ile)
|
rs2133606669
|
|
NM_004329.3(BMPR1A):c.1224G>T (p.Met408Ile)
|
|
|
NM_004329.3(BMPR1A):c.1225G>A (p.Ala409Thr)
|
rs1554891324
|
|
NM_004329.3(BMPR1A):c.1229C>T (p.Pro410Leu)
|
rs2133606748
|
|
NM_004329.3(BMPR1A):c.1235T>G (p.Val412Gly)
|
rs576247658
|
|
NM_004329.3(BMPR1A):c.1237_1239dup (p.Leu413dup)
|
rs1064795499
|
|
NM_004329.3(BMPR1A):c.1240G>A (p.Asp414Asn)
|
rs1554891329
|
|
NM_004329.3(BMPR1A):c.1240G>T (p.Asp414Tyr)
|
rs1554891329
|
|
NM_004329.3(BMPR1A):c.1241A>G (p.Asp414Gly)
|
rs1409093791
|
|
NM_004329.3(BMPR1A):c.1242C>G (p.Asp414Glu)
|
rs767296986
|
|
NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp)
|
rs786204235
|
|
NM_004329.3(BMPR1A):c.1247G>A (p.Ser416Asn)
|
rs1060503395
|
|
NM_004329.3(BMPR1A):c.1249C>G (p.Leu417Val)
|
rs1554891334
|
|
NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu)
|
rs786203156
|
|
NM_004329.3(BMPR1A):c.1253A>G (p.Asn418Ser)
|
|
|
NM_004329.3(BMPR1A):c.1254C>G (p.Asn418Lys)
|
rs1843666528
|
|
NM_004329.3(BMPR1A):c.1255A>G (p.Lys419Glu)
|
|
|
NM_004329.3(BMPR1A):c.1260C>A (p.Asn420Lys)
|
rs876660798
|
|
NM_004329.3(BMPR1A):c.1261C>A (p.His421Asn)
|
rs1554891338
|
|
NM_004329.3(BMPR1A):c.1261C>T (p.His421Tyr)
|
rs1554891338
|
|
NM_004329.3(BMPR1A):c.1266C>G (p.Phe422Leu)
|
rs786202823
|
|
NM_004329.3(BMPR1A):c.1268A>G (p.Gln423Arg)
|
rs2133607541
|
|
NM_004329.3(BMPR1A):c.1270C>T (p.Pro424Ser)
|
rs201362537
|
|
NM_004329.3(BMPR1A):c.1271C>A (p.Pro424His)
|
rs2133607623
|
|
NM_004329.3(BMPR1A):c.1276A>C (p.Ile426Leu)
|
rs780148965
|
|
NM_004329.3(BMPR1A):c.1276A>G (p.Ile426Val)
|
rs780148965
|
|
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile)
|
rs769212314
|
|
NM_004329.3(BMPR1A):c.1287C>G (p.Asp429Glu)
|
rs777021606
|
|
NM_004329.3(BMPR1A):c.1288A>G (p.Ile430Val)
|
rs1589292679
|
|
NM_004329.3(BMPR1A):c.1289T>C (p.Ile430Thr)
|
rs1843667308
|
|
NM_004329.3(BMPR1A):c.128A>C (p.Lys43Thr)
|
|
|
NM_004329.3(BMPR1A):c.128A>G (p.Lys43Arg)
|
rs2133395088
|
|
NM_004329.3(BMPR1A):c.1290C>G (p.Ile430Met)
|
|
|
NM_004329.3(BMPR1A):c.1292A>G (p.Tyr431Cys)
|
rs1554891343
|
|
NM_004329.3(BMPR1A):c.1298T>G (p.Phe433Cys)
|
rs1843667442
|
|
NM_004329.3(BMPR1A):c.1299C>G (p.Phe433Leu)
|
|
|
NM_004329.3(BMPR1A):c.129G>T (p.Lys43Asn)
|
rs1843126055
|
|
NM_004329.3(BMPR1A):c.1300G>T (p.Gly434Cys)
|
rs587780108
|
|
NM_004329.3(BMPR1A):c.1306A>G (p.Ile436Val)
|
rs863224718
|
|
NM_004329.3(BMPR1A):c.1307T>C (p.Ile436Thr)
|
|
|
NM_004329.3(BMPR1A):c.1308C>G (p.Ile436Met)
|
|
|
NM_004329.3(BMPR1A):c.130T>C (p.Ser44Pro)
|
rs2133395138
|
|
NM_004329.3(BMPR1A):c.1310T>C (p.Ile437Thr)
|
rs2133608360
|
|
NM_004329.3(BMPR1A):c.1313G>T (p.Trp438Leu)
|
rs1589292704
|
|
NM_004329.3(BMPR1A):c.1318A>G (p.Met440Val)
|
rs1327393432
|
|
NM_004329.3(BMPR1A):c.1319T>C (p.Met440Thr)
|
rs1843667822
|
|
NM_004329.3(BMPR1A):c.1320G>A (p.Met440Ile)
|
rs1554891352
|
|
NM_004329.3(BMPR1A):c.1322C>G (p.Ala441Gly)
|
rs1564725059
|
|
NM_004329.3(BMPR1A):c.1322C>T (p.Ala441Val)
|
rs1564725059
|
|
NM_004329.3(BMPR1A):c.1324CGT[1] (p.Arg443del)
|
rs864622075
|
|
NM_004329.3(BMPR1A):c.1325G>A (p.Arg442His)
|
rs1554891354
|
|
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His)
|
rs876659155
|
|
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg)
|
rs774061725
|
|
NM_004329.3(BMPR1A):c.1330_1332del (p.Cys444del)
|
rs1554891356
|
|
NM_004329.3(BMPR1A):c.1331G>A (p.Cys444Tyr)
|
|
|
NM_004329.3(BMPR1A):c.1337C>A (p.Thr446Lys)
|
|
|
NM_004329.3(BMPR1A):c.133G>A (p.Glu45Lys)
|
rs1554888112
|
|
NM_004329.3(BMPR1A):c.1342+3G>A
|
rs2133608987
|
|
NM_004329.3(BMPR1A):c.1342+5G>A
|
rs878854663
|
|
NM_004329.3(BMPR1A):c.1342G>A (p.Gly448Arg)
|
rs2133608943
|
|
NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCG
|
|
|
NM_004329.3(BMPR1A):c.1346T>C (p.Ile449Thr)
|
rs587781884
|
|
NM_004329.3(BMPR1A):c.1347C>G (p.Ile449Met)
|
rs1057520966
|
|
NM_004329.3(BMPR1A):c.1348G>C (p.Val450Leu)
|
rs55932635
|
|
NM_004329.3(BMPR1A):c.1348G>T (p.Val450Leu)
|
rs55932635
|
|
NM_004329.3(BMPR1A):c.134A>G (p.Glu45Gly)
|
rs1564714807
|
|
NM_004329.3(BMPR1A):c.1355A>T (p.Glu452Val)
|
|
|
NM_004329.3(BMPR1A):c.1357T>C (p.Tyr453His)
|
|
|
NM_004329.3(BMPR1A):c.1364T>C (p.Leu455Ser)
|
rs1554891572
|
|
NM_004329.3(BMPR1A):c.1365G>C (p.Leu455Phe)
|
|
|
NM_004329.3(BMPR1A):c.1365G>T (p.Leu455Phe)
|
rs753694209
|
|
NM_004329.3(BMPR1A):c.1370A>G (p.Tyr457Cys)
|
|
|
NM_004329.3(BMPR1A):c.1373A>G (p.Tyr458Cys)
|
rs1843694986
|
|
NM_004329.3(BMPR1A):c.1373A>T (p.Tyr458Phe)
|
rs1843694986
|
|
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser)
|
rs1564725605
|
|
NM_004329.3(BMPR1A):c.1378A>G (p.Met460Val)
|
rs761612520
|
|
NM_004329.3(BMPR1A):c.1380G>A (p.Met460Ile)
|
|
|
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile)
|
rs1206243685
|
|
NM_004329.3(BMPR1A):c.1385C>G (p.Pro462Arg)
|
rs1418504897
|
|
NM_004329.3(BMPR1A):c.1388G>A (p.Ser463Asn)
|
rs1843695402
|
|
NM_004329.3(BMPR1A):c.138T>G (p.Asn46Lys)
|
rs2133395262
|
|
NM_004329.3(BMPR1A):c.1394C>T (p.Pro465Leu)
|
rs1843695473
|
|
NM_004329.3(BMPR1A):c.1396T>C (p.Ser466Pro)
|
|
|
NM_004329.3(BMPR1A):c.1397C>T (p.Ser466Leu)
|
rs1843695578
|
|
NM_004329.3(BMPR1A):c.1399T>C (p.Tyr467His)
|
|
|
NM_004329.3(BMPR1A):c.1400A>T (p.Tyr467Phe)
|
|
|
NM_004329.3(BMPR1A):c.1402G>C (p.Glu468Gln)
|
rs199907158
|
|
NM_004329.3(BMPR1A):c.1404A>T (p.Glu468Asp)
|
rs1843695825
|
|
NM_004329.3(BMPR1A):c.1408A>G (p.Met470Val)
|
|
|
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)
|
rs199476089
|
|
NM_004329.3(BMPR1A):c.140G>T (p.Gly47Val)
|
rs368595543
|
|
NM_004329.3(BMPR1A):c.1410G>A (p.Met470Ile)
|
rs749743579
|
|
NM_004329.3(BMPR1A):c.1410G>C (p.Met470Ile)
|
rs749743579
|
|
NM_004329.3(BMPR1A):c.1412G>C (p.Arg471Pro)
|
|
|
NM_004329.3(BMPR1A):c.1412G>T (p.Arg471Leu)
|
rs779371501
|
|
NM_004329.3(BMPR1A):c.1418T>C (p.Val473Ala)
|
|
|
NM_004329.3(BMPR1A):c.1420G>T (p.Val474Leu)
|
rs567733221
|
|
NM_004329.3(BMPR1A):c.1421T>C (p.Val474Ala)
|
|
|
NM_004329.3(BMPR1A):c.1424G>A (p.Cys475Tyr)
|
rs1843696315
|
|
NM_004329.3(BMPR1A):c.1424G>C (p.Cys475Ser)
|
rs1843696315
|
|
NM_004329.3(BMPR1A):c.1426G>A (p.Val476Ile)
|
rs2133621480
|
|
NM_004329.3(BMPR1A):c.1429A>G (p.Lys477Glu)
|
rs2133621539
|
|
NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)
|
|
|
NM_004329.3(BMPR1A):c.1430A>C (p.Lys477Thr)
|
|
|
NM_004329.3(BMPR1A):c.1430A>T (p.Lys477Ile)
|
rs767995260
|
|
NM_004329.3(BMPR1A):c.1433G>T (p.Arg478Leu)
|
rs113849804
|
|
NM_004329.3(BMPR1A):c.1439G>A (p.Arg480Gln)
|
rs535109719
|
|
NM_004329.3(BMPR1A):c.1439G>T (p.Arg480Leu)
|
rs535109719
|
|
NM_004329.3(BMPR1A):c.1444A>T (p.Ile482Phe)
|
|
|
NM_004329.3(BMPR1A):c.1445T>C (p.Ile482Thr)
|
|
|
NM_004329.3(BMPR1A):c.1447G>A (p.Val483Met)
|
rs1163897191
|
|
NM_004329.3(BMPR1A):c.1448T>C (p.Val483Ala)
|
rs1843696769
|
|
NM_004329.3(BMPR1A):c.1450T>A (p.Ser484Thr)
|
rs1554891611
|
|
NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro)
|
rs1554891611
|
|
NM_004329.3(BMPR1A):c.1453A>C (p.Asn485His)
|
rs1589293506
|
|
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln)
|
rs752802257
|
|
NM_004329.3(BMPR1A):c.1459T>A (p.Trp487Arg)
|
rs112883778
|
|
NM_004329.3(BMPR1A):c.1464C>G (p.Asn488Lys)
|
|
|
NM_004329.3(BMPR1A):c.1465A>G (p.Ser489Gly)
|
rs1843697142
|
|
NM_004329.3(BMPR1A):c.1466G>C (p.Ser489Thr)
|
rs1554891617
|
|
NM_004329.3(BMPR1A):c.1467TGA[1] (p.Asp490del)
|
rs1554891618
|
|
NM_004329.3(BMPR1A):c.1469A>G (p.Asp490Gly)
|
rs756222157
|
|
NM_004329.3(BMPR1A):c.146C>T (p.Thr49Ile)
|
rs1589763385
|
|
NM_004329.3(BMPR1A):c.1471G>A (p.Glu491Lys)
|
rs1329735599
|
|
NM_004329.3(BMPR1A):c.1473+3G>A
|
rs1589293539
|
|
NM_004329.3(BMPR1A):c.1473+5G>A
|
|
|
NM_004329.3(BMPR1A):c.1473+6T>A
|
|
|
NM_004329.3(BMPR1A):c.1473+6T>C
|
rs1554891619
|
|
NM_004329.3(BMPR1A):c.1474-3C>A
|
rs1554891636
|
|
NM_004329.3(BMPR1A):c.1474-7T>C
|
rs1060504901
|
|
NM_004329.3(BMPR1A):c.1474-9_1474-5del
|
rs2133623605
|
|
NM_004329.3(BMPR1A):c.1480C>G (p.Arg494Gly)
|
|
|
NM_004329.3(BMPR1A):c.1486G>A (p.Val496Ile)
|
rs753939029
|
|
NM_004329.3(BMPR1A):c.148T>G (p.Leu50Val)
|
|
|
NM_004329.3(BMPR1A):c.1491G>C (p.Leu497Phe)
|
rs1554891647
|
|
NM_004329.3(BMPR1A):c.1491G>T (p.Leu497Phe)
|
|
|
NM_004329.3(BMPR1A):c.1493A>G (p.Lys498Arg)
|
rs2133624180
|
|
NM_004329.3(BMPR1A):c.1494G>C (p.Lys498Asn)
|
rs1843699220
|
|
NM_004329.3(BMPR1A):c.149T>C (p.Leu50Ser)
|
|
|
NM_004329.3(BMPR1A):c.1501T>G (p.Ser501Ala)
|
rs1564725794
|
|
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)
|
rs1554891649
|
|
NM_004329.3(BMPR1A):c.1505A>C (p.Glu502Ala)
|
rs112603659
|
|
NM_004329.3(BMPR1A):c.1507T>A (p.Cys503Ser)
|
rs1554891650
|
|
NM_004329.3(BMPR1A):c.1516C>T (p.His506Tyr)
|
|
|
NM_004329.3(BMPR1A):c.151G>A (p.Ala51Thr)
|
rs1554888117
|
|
NM_004329.3(BMPR1A):c.1525G>T (p.Ala509Ser)
|
rs1564725805
|
|
NM_004329.3(BMPR1A):c.1533A>C (p.Arg511Ser)
|
rs730881437
|
|
NM_004329.3(BMPR1A):c.1533A>T (p.Arg511Ser)
|
|
|
NM_004329.3(BMPR1A):c.1534C>T (p.Leu512Phe)
|
rs1554891661
|
|
NM_004329.3(BMPR1A):c.1535T>A (p.Leu512His)
|
|
|
NM_004329.3(BMPR1A):c.1537A>G (p.Thr513Ala)
|
|
|
NM_004329.3(BMPR1A):c.1550T>C (p.Ile517Thr)
|
rs1554891667
|
|
NM_004329.3(BMPR1A):c.1550T>G (p.Ile517Ser)
|
rs1554891667
|
|
NM_004329.3(BMPR1A):c.1551T>G (p.Ile517Met)
|
|
|
NM_004329.3(BMPR1A):c.1552_1553insTAAT (p.Lys518fs)
|
rs1589293668
|
|
NM_004329.3(BMPR1A):c.1553AGA[1] (p.Lys519del)
|
rs1589293666
|
|
NM_004329.3(BMPR1A):c.1554G>C (p.Lys518Asn)
|
rs1554891668
|
|
NM_004329.3(BMPR1A):c.1559_1560insTT (p.Leu521fs)
|
rs1554891669
|
|
NM_004329.3(BMPR1A):c.1561C>T (p.Leu521Phe)
|
|
|
NM_004329.3(BMPR1A):c.1565C>T (p.Ala522Val)
|
rs1843703262
|
|
NM_004329.3(BMPR1A):c.1568A>G (p.Lys523Arg)
|
rs878854665
|
|
NM_004329.3(BMPR1A):c.1570A>C (p.Met524Leu)
|
rs747640982
|
|
NM_004329.3(BMPR1A):c.1570A>G (p.Met524Val)
|
rs747640982
|
|
NM_004329.3(BMPR1A):c.1572G>C (p.Met524Ile)
|
rs1064793404
|
|
NM_004329.3(BMPR1A):c.1572G>T (p.Met524Ile)
|
rs1064793404
|
|
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile)
|
rs769233029
|
|
NM_004329.3(BMPR1A):c.1573G>T (p.Val525Phe)
|
rs769233029
|
|
NM_004329.3(BMPR1A):c.1573_1588del (p.Met524_Val525insTer)
|
|
|
NM_004329.3(BMPR1A):c.1579T>A (p.Ser527Thr)
|
rs1589293695
|
|
NM_004329.3(BMPR1A):c.1582C>T (p.Gln528Ter)
|
rs1554891677
|
|
NM_004329.3(BMPR1A):c.1584A>C (p.Gln528His)
|
rs1554891680
|
|
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu)
|
rs864622175
|
|
NM_004329.3(BMPR1A):c.1587_1588insTTAC (p.Val530fs)
|
rs1843703874
|
|
NM_004329.3(BMPR1A):c.1588G>A (p.Val530Ile)
|
rs1843703913
|
|
NM_004329.3(BMPR1A):c.1595T>C (p.Ile532Thr)
|
rs2133626158
|
|
NM_004329.3(BMPR1A):c.160G>A (p.Asp54Asn)
|
rs1843126765
|
|
NM_004329.3(BMPR1A):c.160G>T (p.Asp54Tyr)
|
|
|
NM_004329.3(BMPR1A):c.161A>T (p.Asp54Val)
|
rs1554888124
|
|
NM_004329.3(BMPR1A):c.163A>G (p.Thr55Ala)
|
rs1843126824
|
|
NM_004329.3(BMPR1A):c.164C>T (p.Thr55Ile)
|
rs1843126856
|
|
NM_004329.3(BMPR1A):c.167T>G (p.Leu56Trp)
|
rs1554888125
|
|
NM_004329.3(BMPR1A):c.168G>T (p.Leu56Phe)
|
|
|
NM_004329.3(BMPR1A):c.169C>A (p.Pro57Thr)
|
|
|
NM_004329.3(BMPR1A):c.169C>T (p.Pro57Ser)
|
|
|
NM_004329.3(BMPR1A):c.16A>G (p.Ile6Val)
|
rs1842917141
|
|
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)
|
rs1057517610
|
|
NM_004329.3(BMPR1A):c.173T>G (p.Phe58Cys)
|
rs1843127298
|
|
NM_004329.3(BMPR1A):c.176T>C (p.Leu59Ser)
|
|
|
NM_004329.3(BMPR1A):c.179A>G (p.Lys60Arg)
|
rs1589763421
|
|
NM_004329.3(BMPR1A):c.182G>A (p.Cys61Tyr)
|
|
|
NM_004329.3(BMPR1A):c.185A>G (p.Tyr62Cys)
|
rs1060503402
|
|
NM_004329.3(BMPR1A):c.185_187dup (p.Tyr62dup)
|
rs1589763427
|
|
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu)
|
rs760515128
|
|
NM_004329.3(BMPR1A):c.194G>A (p.Gly65Glu)
|
rs1589763441
|
|
NM_004329.3(BMPR1A):c.196C>G (p.His66Asp)
|
|
|
NM_004329.3(BMPR1A):c.196C>T (p.His66Tyr)
|
|
|
NM_004329.3(BMPR1A):c.197A>G (p.His66Arg)
|
rs1843127850
|
|
NM_004329.3(BMPR1A):c.199T>C (p.Cys67Arg)
|
|
|
NM_004329.3(BMPR1A):c.19T>C (p.Tyr7His)
|
rs762926643
|
|
NM_004329.3(BMPR1A):c.205G>T (p.Asp69Tyr)
|
rs1177143902
|
|
NM_004329.3(BMPR1A):c.208G>A (p.Asp70Asn)
|
|
|
NM_004329.3(BMPR1A):c.209A>G (p.Asp70Gly)
|
rs1060503394
|
|
NM_004329.3(BMPR1A):c.209A>T (p.Asp70Val)
|
rs1060503394
|
|
NM_004329.3(BMPR1A):c.20A>C (p.Tyr7Ser)
|
|
|
NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr)
|
rs1589763471
|
|
NM_004329.3(BMPR1A):c.212C>T (p.Ala71Val)
|
rs1843128283
|
|
NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val)
|
rs1064795729
|
|
NM_004329.3(BMPR1A):c.219_230del (p.Asn73_Ile77delinsLys)
|
rs2133396668
|
|
NM_004329.3(BMPR1A):c.221A>C (p.Asn74Thr)
|
rs2133396691
|
|
NM_004329.3(BMPR1A):c.223A>G (p.Thr75Ala)
|
rs1554888142
|
|
NM_004329.3(BMPR1A):c.224_225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTA (p.Thr75_Cys76insPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaProAlaAlaAlaProCysProArgAlaProArgGlyProSerAlaProProAlaAlaAlaSerArgAlaAlaLeuAlaGlyAlaAlaAlaLysThrAlaCysLysTer)
|
rs1843128484
|
|
NM_004329.3(BMPR1A):c.226_227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTAT (p.Cys76delinsPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaAlaGlyGlyCysSerLeuProSerGlyProAlaGlyProValArgSerSerSerArgCysLeuProGlyGlyAlaArgArgArgGlyGlyLysAspCysMetTer)
|
rs1843128582
|
|
NM_004329.3(BMPR1A):c.228C>T (p.Cys76=)
|
rs1554888145
|
|
NM_004329.3(BMPR1A):c.229A>C (p.Ile77Leu)
|
rs878854666
|
|
NM_004329.3(BMPR1A):c.229A>G (p.Ile77Val)
|
rs878854666
|
|
NM_004329.3(BMPR1A):c.22A>T (p.Ile8Phe)
|
|
|
NM_004329.3(BMPR1A):c.230+5G>A
|
|
|
NM_004329.3(BMPR1A):c.231-3T>C
|
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.236A>G (p.Asn79Ser)
|
rs1589764258
|
|
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr)
|
rs953797046
|
|
NM_004329.3(BMPR1A):c.242A>G (p.His81Arg)
|
rs1064793333
|
|
NM_004329.3(BMPR1A):c.242A>T (p.His81Leu)
|
rs1064793333
|
|
NM_004329.3(BMPR1A):c.244T>A (p.Cys82Ser)
|
rs1060503406
|
|
NM_004329.3(BMPR1A):c.244T>G (p.Cys82Gly)
|
rs1060503406
|
|
NM_004329.3(BMPR1A):c.245G>A (p.Cys82Tyr)
|
|
|
NM_004329.3(BMPR1A):c.247T>C (p.Phe83Leu)
|
|
|
NM_004329.3(BMPR1A):c.248T>A (p.Phe83Tyr)
|
rs1843160072
|
|
NM_004329.3(BMPR1A):c.250G>A (p.Ala84Thr)
|
rs1456980302
|
|
NM_004329.3(BMPR1A):c.250G>T (p.Ala84Ser)
|
rs1456980302
|
|
NM_004329.3(BMPR1A):c.251C>T (p.Ala84Val)
|
rs2133407821
|
|
NM_004329.3(BMPR1A):c.256A>G (p.Ile86Val)
|
rs1554888312
|
|
NM_004329.3(BMPR1A):c.257T>C (p.Ile86Thr)
|
rs876659498
|
|
NM_004329.3(BMPR1A):c.258AGA[2] (p.Glu88del)
|
rs876659086
|
|
NM_004329.3(BMPR1A):c.260A>T (p.Glu87Val)
|
rs2133408068
|
|
NM_004329.3(BMPR1A):c.265G>A (p.Asp89Asn)
|
|
|
NM_004329.3(BMPR1A):c.269A>C (p.Asp90Ala)
|
|
|
NM_004329.3(BMPR1A):c.26G>A (p.Arg9Lys)
|
|
|
NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr)
|
rs766269417
|
|
NM_004329.3(BMPR1A):c.270C>G (p.Asp90Glu)
|
|
|
NM_004329.3(BMPR1A):c.271C>A (p.Gln91Lys)
|
rs878854667
|
|
NM_004329.3(BMPR1A):c.274G>C (p.Gly92Arg)
|
rs1843160838
|
|
NM_004329.3(BMPR1A):c.275G>A (p.Gly92Glu)
|
rs1843160891
|
|
NM_004329.3(BMPR1A):c.283A>G (p.Thr95Ala)
|
rs1564715471
|
|
NM_004329.3(BMPR1A):c.286T>A (p.Leu96Ile)
|
rs1554888320
|
|
NM_004329.3(BMPR1A):c.286T>G (p.Leu96Val)
|
rs1554888320
|
|
NM_004329.3(BMPR1A):c.292T>G (p.Ser98Ala)
|
rs1564715478
|
|
NM_004329.3(BMPR1A):c.29T>C (p.Leu10Ser)
|
rs2133321352
|
|
NM_004329.3(BMPR1A):c.301A>G (p.Met101Val)
|
rs2133408803
|
|
NM_004329.3(BMPR1A):c.306A>T (p.Lys102Asn)
|
|
|
NM_004329.3(BMPR1A):c.308A>T (p.Tyr103Phe)
|
|
|
NM_004329.3(BMPR1A):c.313G>A (p.Gly105Arg)
|
|
|
NM_004329.3(BMPR1A):c.314G>A (p.Gly105Glu)
|
rs1843161877
|
|
NM_004329.3(BMPR1A):c.322T>C (p.Phe108Leu)
|
rs1554888328
|
|
NM_004329.3(BMPR1A):c.326A>G (p.Gln109Arg)
|
|
|
NM_004329.3(BMPR1A):c.326A>T (p.Gln109Leu)
|
|
|
NM_004329.3(BMPR1A):c.32T>G (p.Leu11Trp)
|
rs1842917459
|
|
NM_004329.3(BMPR1A):c.333+5G>C
|
rs1554888331
|
|
NM_004329.3(BMPR1A):c.333+6A>C
|
rs1473659802
|
|
NM_004329.3(BMPR1A):c.333+6A>G
|
rs1473659802
|
|
NM_004329.3(BMPR1A):c.334-3T>C
|
rs1060503411
|
|
NM_004329.3(BMPR1A):c.334-7_334-3del
|
rs2133453116
|
|
NM_004329.3(BMPR1A):c.335A>T (p.Asp112Val)
|
rs2133453165
|
|
NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala)
|
rs1554888960
|
|
NM_004329.3(BMPR1A):c.340C>T (p.Pro114Ser)
|
rs1554888960
|
|
NM_004329.3(BMPR1A):c.340_342del (p.Pro114del)
|
rs2133453263
|
|
NM_004329.3(BMPR1A):c.343_345inv (p.Lys115Phe)
|
|
|
NM_004329.3(BMPR1A):c.34G>A (p.Gly12Arg)
|
rs1842917526
|
|
NM_004329.3(BMPR1A):c.350A>G (p.Gln117Arg)
|
rs1360094214
|
|
NM_004329.3(BMPR1A):c.352C>G (p.Leu118Val)
|
rs587782418
|
|
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His)
|
rs1554888965
|
|
NM_004329.3(BMPR1A):c.358C>T (p.Arg120Trp)
|
rs779661827
|
|
NM_004329.3(BMPR1A):c.359G>A (p.Arg120Gln)
|
rs1060503401
|
|
NM_004329.3(BMPR1A):c.359G>C (p.Arg120Pro)
|
|
|
NM_004329.3(BMPR1A):c.35G>A (p.Gly12Glu)
|
rs1589757087
|
|
NM_004329.3(BMPR1A):c.362C>T (p.Thr121Ile)
|
rs1554888969
|
|
NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr)
|
rs1554888971
|
|
NM_004329.3(BMPR1A):c.367G>A (p.Glu123Lys)
|
rs1843280822
|
|
NM_004329.3(BMPR1A):c.374del (p.Cys125fs)
|
rs1564717692
|
|
NM_004329.3(BMPR1A):c.376C>G (p.Arg126Gly)
|
rs781258592
|
|
NM_004329.3(BMPR1A):c.376C>T (p.Arg126Trp)
|
rs781258592
|
|
NM_004329.3(BMPR1A):c.377G>C (p.Arg126Pro)
|
rs864622549
|
|
NM_004329.3(BMPR1A):c.377G>T (p.Arg126Leu)
|
rs864622549
|
|
NM_004329.3(BMPR1A):c.379A>C (p.Thr127Pro)
|
rs2133454135
|
|
NM_004329.3(BMPR1A):c.37G>A (p.Ala13Thr)
|
rs200115604
|
|
NM_004329.3(BMPR1A):c.37G>C (p.Ala13Pro)
|
|
|
NM_004329.3(BMPR1A):c.382A>G (p.Asn128Asp)
|
rs2133454173
|
|
NM_004329.3(BMPR1A):c.389G>C (p.Cys130Ser)
|
rs863224720
|
|
NM_004329.3(BMPR1A):c.38C>G (p.Ala13Gly)
|
rs754015069
|
|
NM_004329.3(BMPR1A):c.38C>T (p.Ala13Val)
|
rs754015069
|
|
NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe)
|
rs2133454421
|
|
NM_004329.3(BMPR1A):c.407C>T (p.Pro136Leu)
|
rs1554888980
|
|
NM_004329.3(BMPR1A):c.409A>C (p.Thr137Pro)
|
rs1589768079
|
|
NM_004329.3(BMPR1A):c.409A>T (p.Thr137Ser)
|
rs1589768079
|
|
NM_004329.3(BMPR1A):c.410C>T (p.Thr137Ile)
|
rs1843282592
|
|
NM_004329.3(BMPR1A):c.413T>C (p.Leu138Pro)
|
rs767385418
|
|
NM_004329.3(BMPR1A):c.413T>G (p.Leu138Arg)
|
|
|
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser)
|
rs772163112
|
|
NM_004329.3(BMPR1A):c.416C>G (p.Pro139Arg)
|
rs1554888987
|
|
NM_004329.3(BMPR1A):c.416C>T (p.Pro139Leu)
|
|
|
NM_004329.3(BMPR1A):c.419C>T (p.Pro140Leu)
|
rs1312138101
|
|
NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys)
|
rs2133321618
|
|
NM_004329.3(BMPR1A):c.420TGT[3] (p.Val142_Ile143insVal)
|
|
|
NM_004329.3(BMPR1A):c.421G>A (p.Val141Ile)
|
rs1244692883
|
|
NM_004329.3(BMPR1A):c.422T>A (p.Val141Asp)
|
rs1442736321
|
|
NM_004329.3(BMPR1A):c.424G>C (p.Val142Leu)
|
rs1564717740
|
|
NM_004329.3(BMPR1A):c.424_426del (p.Val142del)
|
|
|
NM_004329.3(BMPR1A):c.428T>C (p.Ile143Thr)
|
|
|
NM_004329.3(BMPR1A):c.430+3A>G
|
rs769214238
|
|
NM_004329.3(BMPR1A):c.430+4G>A
|
|
|
NM_004329.3(BMPR1A):c.430+5G>A
|
rs2133454975
|
|
NM_004329.3(BMPR1A):c.431-3C>T
|
rs876659613
|
|
NM_004329.3(BMPR1A):c.431-6T>A
|
rs1589768166
|
|
NM_004329.3(BMPR1A):c.431-6del
|
rs1843285770
|
|
NM_004329.3(BMPR1A):c.431G>A (p.Gly144Asp)
|
|
|
NM_004329.3(BMPR1A):c.431G>T (p.Gly144Val)
|
rs1843285922
|
|
NM_004329.3(BMPR1A):c.434C>A (p.Pro145Gln)
|
rs1564717828
|
|
NM_004329.3(BMPR1A):c.434C>T (p.Pro145Leu)
|
rs1564717828
|
|
NM_004329.3(BMPR1A):c.436T>G (p.Phe146Val)
|
rs1554889007
|
|
NM_004329.3(BMPR1A):c.438T>G (p.Phe146Leu)
|
rs1564717849
|
|
NM_004329.3(BMPR1A):c.440T>C (p.Phe147Ser)
|
rs371243894
|
|
NM_004329.3(BMPR1A):c.443A>G (p.Asp148Gly)
|
rs1589768201
|
|
NM_004329.3(BMPR1A):c.445G>A (p.Gly149Ser)
|
rs1589768202
|
|
NM_004329.3(BMPR1A):c.455G>T (p.Arg152Leu)
|
|
|
NM_004329.3(BMPR1A):c.457T>G (p.Trp153Gly)
|
rs2133456471
|
|
NM_004329.3(BMPR1A):c.45G>C (p.Leu15Phe)
|
rs2133321682
|
|
NM_004329.3(BMPR1A):c.463G>T (p.Val155Phe)
|
rs1589768221
|
|
NM_004329.3(BMPR1A):c.470T>C (p.Leu157Pro)
|
rs751260747
|
|
NM_004329.3(BMPR1A):c.470T>G (p.Leu157Arg)
|
rs751260747
|
|
NM_004329.3(BMPR1A):c.475T>C (p.Ser159Pro)
|
rs767157505
|
|
NM_004329.3(BMPR1A):c.476C>T (p.Ser159Phe)
|
rs1843287105
|
|
NM_004329.3(BMPR1A):c.485T>G (p.Val162Gly)
|
rs1589768250
|
|
NM_004329.3(BMPR1A):c.488G>T (p.Cys163Phe)
|
rs1843287435
|
|
NM_004329.3(BMPR1A):c.494T>C (p.Ile165Thr)
|
rs1260484420
|
|
NM_004329.3(BMPR1A):c.495T>G (p.Ile165Met)
|
rs763934014
|
|
NM_004329.3(BMPR1A):c.496G>A (p.Ala166Thr)
|
rs971636078
|
|
NM_004329.3(BMPR1A):c.496G>T (p.Ala166Ser)
|
rs971636078
|
|
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu)
|
rs200951235
|
|
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)
|
rs778886055
|
|
NM_004329.3(BMPR1A):c.4C>T (p.Pro2Ser)
|
rs11528010
|
|
NM_004329.3(BMPR1A):c.501G>C (p.Met167Ile)
|
|
|
NM_004329.3(BMPR1A):c.502ATC[1] (p.Ile169del)
|
rs1057518941
|
|
NM_004329.3(BMPR1A):c.504C>G (p.Ile168Met)
|
rs778615896
|
|
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)
|
rs878854668
|
|
NM_004329.3(BMPR1A):c.505_510del (p.Ile169_Phe170del)
|
rs1589768267
|
|
NM_004329.3(BMPR1A):c.506T>C (p.Ile169Thr)
|
rs1589768275
|
|
NM_004329.3(BMPR1A):c.506TCT[1] (p.Phe170del)
|
rs878854669
|
|
NM_004329.3(BMPR1A):c.509T>G (p.Phe170Cys)
|
|
|
NM_004329.3(BMPR1A):c.511T>C (p.Ser171Pro)
|
rs377733546
|
|
NM_004329.3(BMPR1A):c.512C>T (p.Ser171Phe)
|
rs781286980
|
|
NM_004329.3(BMPR1A):c.517T>C (p.Cys173Arg)
|
|
|
NM_004329.3(BMPR1A):c.519C>G (p.Cys173Trp)
|
rs863224721
|
|
NM_004329.3(BMPR1A):c.520T>C (p.Phe174Leu)
|
rs1843288421
|
|
NM_004329.3(BMPR1A):c.522T>A (p.Phe174Leu)
|
rs1843288452
|
|
NM_004329.3(BMPR1A):c.524G>C (p.Cys175Ser)
|
rs370091063
|
|
NM_004329.3(BMPR1A):c.526T>C (p.Tyr176His)
|
rs1564717948
|
|
NM_004329.3(BMPR1A):c.526_528del (p.Tyr176del)
|
rs2133458037
|
|
NM_004329.3(BMPR1A):c.527A>G (p.Tyr176Cys)
|
rs1554889024
|
|
NM_004329.3(BMPR1A):c.527A>T (p.Tyr176Phe)
|
rs1554889024
|
|
NM_004329.3(BMPR1A):c.529A>C (p.Lys177Gln)
|
|
|
NM_004329.3(BMPR1A):c.530+15_530+33del
|
rs1843289071
|
|
NM_004329.3(BMPR1A):c.530+5G>A
|
rs1554889026
|
|
NM_004329.3(BMPR1A):c.530+5G>C
|
rs1554889026
|
|
NM_004329.3(BMPR1A):c.530+6A>C
|
rs2133458229
|
|
NM_004329.3(BMPR1A):c.530+9A>G
|
|
|
NM_004329.3(BMPR1A):c.531-4A>G
|
rs1843500723
|
|
NM_004329.3(BMPR1A):c.531-5A>G
|
|
|
NM_004329.3(BMPR1A):c.531-6T>A
|
rs1564721906
|
|
NM_004329.3(BMPR1A):c.533A>G (p.His178Arg)
|
|
|
NM_004329.3(BMPR1A):c.533ATT[1] (p.Tyr179del)
|
rs1389461805
|
|
NM_004329.3(BMPR1A):c.534T>G (p.His178Gln)
|
rs2133543547
|
|
NM_004329.3(BMPR1A):c.535T>C (p.Tyr179His)
|
rs1843500916
|
|
NM_004329.3(BMPR1A):c.536A>G (p.Tyr179Cys)
|
rs1843500965
|
|
NM_004329.3(BMPR1A):c.538T>C (p.Cys180Arg)
|
|
|
NM_004329.3(BMPR1A):c.539G>A (p.Cys180Tyr)
|
rs1843501084
|
|
NM_004329.3(BMPR1A):c.539G>T (p.Cys180Phe)
|
rs1843501084
|
|
NM_004329.3(BMPR1A):c.541A>G (p.Lys181Glu)
|
rs2133543692
|
|
NM_004329.3(BMPR1A):c.542A>G (p.Lys181Arg)
|
rs1446889676
|
|
NM_004329.3(BMPR1A):c.544A>G (p.Ser182Gly)
|
|
|
NM_004329.3(BMPR1A):c.545G>A (p.Ser182Asn)
|
rs1341015567
|
|
NM_004329.3(BMPR1A):c.545G>C (p.Ser182Thr)
|
|
|
NM_004329.3(BMPR1A):c.545G>T (p.Ser182Ile)
|
|
|
NM_004329.3(BMPR1A):c.547A>G (p.Ile183Val)
|
rs935076000
|
|
NM_004329.3(BMPR1A):c.547A>T (p.Ile183Phe)
|
rs935076000
|
|
NM_004329.3(BMPR1A):c.551C>T (p.Ser184Leu)
|
rs1131691185
|
|
NM_004329.3(BMPR1A):c.559CGT[1] (p.Arg188del)
|
rs751105749
|
|
NM_004329.3(BMPR1A):c.560G>T (p.Arg187Leu)
|
rs189059377
|
|
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu)
|
rs749780872
|
|
NM_004329.3(BMPR1A):c.565T>C (p.Tyr189His)
|
rs1564721927
|
|
NM_004329.3(BMPR1A):c.568A>C (p.Asn190His)
|
rs771444196
|
|
NM_004329.3(BMPR1A):c.56C>T (p.Ser19Phe)
|
rs1842917942
|
|
NM_004329.3(BMPR1A):c.571C>A (p.Arg191Ser)
|
|
|
NM_004329.3(BMPR1A):c.571C>G (p.Arg191Gly)
|
|
|
NM_004329.3(BMPR1A):c.574G>C (p.Asp192His)
|
rs1843502418
|
|
NM_004329.3(BMPR1A):c.579G>C (p.Leu193Phe)
|
rs1060503404
|
|
NM_004329.3(BMPR1A):c.580G>C (p.Glu194Gln)
|
rs2133544661
|
|
NM_004329.3(BMPR1A):c.581A>G (p.Glu194Gly)
|
rs1843502521
|
|
NM_004329.3(BMPR1A):c.586G>A (p.Asp196Asn)
|
rs1843502787
|
|
NM_004329.3(BMPR1A):c.586G>C (p.Asp196His)
|
rs1843502787
|
|
NM_004329.3(BMPR1A):c.587A>T (p.Asp196Val)
|
|
|
NM_004329.3(BMPR1A):c.588T>G (p.Asp196Glu)
|
rs1564721952
|
|
NM_004329.3(BMPR1A):c.58C>T (p.Arg20Cys)
|
rs1472397694
|
|
NM_004329.3(BMPR1A):c.591A>T (p.Glu197Asp)
|
|
|
NM_004329.3(BMPR1A):c.592G>A (p.Ala198Thr)
|
rs1843502994
|
|
NM_004329.3(BMPR1A):c.592_593delinsTT (p.Ala198Leu)
|
rs1843503016
|
|
NM_004329.3(BMPR1A):c.593C>T (p.Ala198Val)
|
rs776160961
|
|
NM_004329.3(BMPR1A):c.59G>T (p.Arg20Leu)
|
rs759014147
|
|
NM_004329.3(BMPR1A):c.5C>G (p.Pro2Arg)
|
|
|
NM_004329.3(BMPR1A):c.601C>G (p.Pro201Ala)
|
rs2133545205
|
|
NM_004329.3(BMPR1A):c.602C>T (p.Pro201Leu)
|
|
|
NM_004329.3(BMPR1A):c.604G>T (p.Val202Phe)
|
rs878854670
|
|
NM_004329.3(BMPR1A):c.605T>C (p.Val202Ala)
|
rs879254158
|
|
NM_004329.3(BMPR1A):c.607G>A (p.Gly203Arg)
|
rs1843503336
|
|
NM_004329.3(BMPR1A):c.608G>A (p.Gly203Glu)
|
rs587782748
|
|
NM_004329.3(BMPR1A):c.613T>C (p.Ser205Pro)
|
|
|
NM_004329.3(BMPR1A):c.619A>G (p.Lys207Glu)
|
rs2133545475
|
|
NM_004329.3(BMPR1A):c.620A>G (p.Lys207Arg)
|
rs1554890228
|
|
NM_004329.3(BMPR1A):c.623A>G (p.Asp208Gly)
|
|
|
NM_004329.3(BMPR1A):c.624C>A (p.Asp208Glu)
|
|
|
NM_004329.3(BMPR1A):c.629T>C (p.Ile210Thr)
|
rs730881432
|
|
NM_004329.3(BMPR1A):c.629T>G (p.Ile210Ser)
|
rs730881432
|
|
NM_004329.3(BMPR1A):c.62T>C (p.Val21Ala)
|
rs2133321901
|
|
NM_004329.3(BMPR1A):c.632A>G (p.Asp211Gly)
|
rs1843503680
|
|
NM_004329.3(BMPR1A):c.634C>G (p.Gln212Glu)
|
rs876658138
|
|
NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys)
|
rs1305429176
|
|
NM_004329.3(BMPR1A):c.647C>A (p.Ser216Tyr)
|
|
|
NM_004329.3(BMPR1A):c.647C>G (p.Ser216Cys)
|
|
|
NM_004329.3(BMPR1A):c.649G>A (p.Gly217Ser)
|
rs766093107
|
|
NM_004329.3(BMPR1A):c.64C>G (p.Gln22Glu)
|
rs1554886821
|
|
NM_004329.3(BMPR1A):c.650G>T (p.Gly217Val)
|
|
|
NM_004329.3(BMPR1A):c.652A>G (p.Ser218Gly)
|
rs1564721996
|
|
NM_004329.3(BMPR1A):c.653G>A (p.Ser218Asn)
|
rs752893921
|
|
NM_004329.3(BMPR1A):c.653G>C (p.Ser218Thr)
|
rs752893921
|
|
NM_004329.3(BMPR1A):c.654T>G (p.Ser218Arg)
|
rs1843504209
|
|
NM_004329.3(BMPR1A):c.656G>A (p.Gly219Glu)
|
rs878854671
|
|
NM_004329.3(BMPR1A):c.658T>A (p.Ser220Thr)
|
|
|
NM_004329.3(BMPR1A):c.662G>A (p.Gly221Glu)
|
rs1564722001
|
|
NM_004329.3(BMPR1A):c.662G>T (p.Gly221Val)
|
rs1564722001
|
|
NM_004329.3(BMPR1A):c.664C>G (p.Leu222Val)
|
|
|
NM_004329.3(BMPR1A):c.667C>A (p.Pro223Thr)
|
rs1843504441
|
|
NM_004329.3(BMPR1A):c.66A>C (p.Gln22His)
|
rs786204152
|
|
NM_004329.3(BMPR1A):c.67+3077G>T
|
|
|
NM_004329.3(BMPR1A):c.67+6T>C
|
|
|
NM_004329.3(BMPR1A):c.675+6T>C
|
rs1564722020
|
|
NM_004329.3(BMPR1A):c.676-8C>A
|
rs1554890727
|
|
NM_004329.3(BMPR1A):c.676G>A (p.Val226Ile)
|
rs587780110
|
|
NM_004329.3(BMPR1A):c.676G>C (p.Val226Leu)
|
rs587780110
|
|
NM_004329.3(BMPR1A):c.68-10T>G
|
rs2133394136
|
|
NM_004329.3(BMPR1A):c.68-3710_68-3696delinsCC
|
|
|
NM_004329.3(BMPR1A):c.68-9T>A
|
|
|
NM_004329.3(BMPR1A):c.680A>G (p.Gln227Arg)
|
|
|
NM_004329.3(BMPR1A):c.683G>A (p.Arg228Gln)
|
rs747371306
|
|
NM_004329.3(BMPR1A):c.686C>G (p.Thr229Ser)
|
|
|
NM_004329.3(BMPR1A):c.689T>C (p.Ile230Thr)
|
rs1843582763
|
|
NM_004329.3(BMPR1A):c.695A>G (p.Lys232Arg)
|
rs587781341
|
|
NM_004329.3(BMPR1A):c.700A>G (p.Ile234Val)
|
rs2133574845
|
|
NM_004329.3(BMPR1A):c.701T>G (p.Ile234Ser)
|
|
|
NM_004329.3(BMPR1A):c.703C>G (p.Gln235Glu)
|
rs1554890745
|
|
NM_004329.3(BMPR1A):c.705G>C (p.Gln235His)
|
rs780907902
|
|
NM_004329.3(BMPR1A):c.705G>T (p.Gln235His)
|
rs780907902
|
|
NM_004329.3(BMPR1A):c.706A>G (p.Met236Val)
|
|
|
NM_004329.3(BMPR1A):c.707T>A (p.Met236Lys)
|
|
|
NM_004329.3(BMPR1A):c.707T>C (p.Met236Thr)
|
rs1347027954
|
|
NM_004329.3(BMPR1A):c.708G>A (p.Met236Ile)
|
rs1564723344
|
|
NM_004329.3(BMPR1A):c.708G>C (p.Met236Ile)
|
|
|
NM_004329.3(BMPR1A):c.710T>C (p.Val237Ala)
|
rs1843583262
|
|
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly)
|
rs747728399
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
NM_004329.3(BMPR1A):c.715C>A (p.Gln239Lys)
|
rs199476084
|
|
NM_004329.3(BMPR1A):c.716A>C (p.Gln239Pro)
|
rs2133575200
|
|
NM_004329.3(BMPR1A):c.717A>C (p.Gln239His)
|
rs1589290669
|
|
NM_004329.3(BMPR1A):c.718G>A (p.Val240Ile)
|
rs1060503405
|
|
NM_004329.3(BMPR1A):c.71A>G (p.Gln24Arg)
|
rs1163365235
|
|
NM_004329.3(BMPR1A):c.722G>C (p.Gly241Ala)
|
rs1554890758
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
NM_004329.3(BMPR1A):c.733T>C (p.Tyr245His)
|
rs369012159
|
|
NM_004329.3(BMPR1A):c.734A>G (p.Tyr245Cys)
|
|
|
NM_004329.3(BMPR1A):c.734A>T (p.Tyr245Phe)
|
rs1589290688
|
|
NM_004329.3(BMPR1A):c.736G>A (p.Gly246Arg)
|
|
|
NM_004329.3(BMPR1A):c.741A>C (p.Glu247Asp)
|
rs1843584257
|
|
NM_004329.3(BMPR1A):c.745T>C (p.Trp249Arg)
|
rs1006323095
|
|
NM_004329.3(BMPR1A):c.748A>G (p.Met250Val)
|
rs762087997
|
|
NM_004329.3(BMPR1A):c.74A>C (p.Asn25Thr)
|
rs1060503410
|
|
NM_004329.3(BMPR1A):c.750G>A (p.Met250Ile)
|
rs1564723388
|
|
NM_004329.3(BMPR1A):c.752G>A (p.Gly251Asp)
|
rs1554890768
|
|
NM_004329.3(BMPR1A):c.755A>G (p.Lys252Arg)
|
rs1554890769
|
|
NM_004329.3(BMPR1A):c.761G>C (p.Arg254Pro)
|
rs766908700
|
|
NM_004329.3(BMPR1A):c.761G>T (p.Arg254Leu)
|
rs766908700
|
|
NM_004329.3(BMPR1A):c.764G>A (p.Gly255Asp)
|
rs1843585065
|
|
NM_004329.3(BMPR1A):c.764G>C (p.Gly255Ala)
|
|
|
NM_004329.3(BMPR1A):c.76C>G (p.Leu26Val)
|
|
|
NM_004329.3(BMPR1A):c.773T>C (p.Val258Ala)
|
rs1589290731
|
|
NM_004329.3(BMPR1A):c.776C>T (p.Ala259Val)
|
rs905457708
|
|
NM_004329.3(BMPR1A):c.778G>A (p.Val260Met)
|
rs2133576357
|
|
NM_004329.3(BMPR1A):c.778G>C (p.Val260Leu)
|
|
|
NM_004329.3(BMPR1A):c.778G>T (p.Val260Leu)
|
rs2133576357
|
|
NM_004329.3(BMPR1A):c.778_780del (p.Val260del)
|
rs1843585989
|
|
NM_004329.3(BMPR1A):c.779T>C (p.Val260Ala)
|
|
|
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala)
|
rs770830310
|
|
NM_004329.3(BMPR1A):c.787T>C (p.Phe263Leu)
|
|
|
NM_004329.3(BMPR1A):c.789C>G (p.Phe263Leu)
|
rs771932684
|
|
NM_004329.3(BMPR1A):c.790T>C (p.Phe264Leu)
|
|
|
NM_004329.3(BMPR1A):c.794C>A (p.Thr265Asn)
|
|
|
NM_004329.3(BMPR1A):c.794C>T (p.Thr265Ile)
|
rs1064793937
|
|
NM_004329.3(BMPR1A):c.796A>G (p.Thr266Ala)
|
rs1273972467
|
|
NM_004329.3(BMPR1A):c.797C>G (p.Thr266Ser)
|
rs1554890797
|
|
NM_004329.3(BMPR1A):c.797C>T (p.Thr266Ile)
|
rs1554890797
|
|
NM_004329.3(BMPR1A):c.79G>T (p.Asp27Tyr)
|
rs1430886611
|
|
NM_004329.3(BMPR1A):c.7C>G (p.Gln3Glu)
|
rs1589757055
|
|
NM_004329.3(BMPR1A):c.801A>C (p.Glu267Asp)
|
rs2133576868
|
|
NM_004329.3(BMPR1A):c.803A>C (p.Glu268Ala)
|
|
|
NM_004329.3(BMPR1A):c.805G>A (p.Ala269Thr)
|
rs2133576894
|
|
NM_004329.3(BMPR1A):c.806C>G (p.Ala269Gly)
|
|
|
NM_004329.3(BMPR1A):c.806C>T (p.Ala269Val)
|
rs1843587139
|
|
NM_004329.3(BMPR1A):c.809G>A (p.Ser270Asn)
|
|
|
NM_004329.3(BMPR1A):c.809G>C (p.Ser270Thr)
|
|
|
NM_004329.3(BMPR1A):c.80A>G (p.Asp27Gly)
|
rs1589763296
|
|
NM_004329.3(BMPR1A):c.818G>T (p.Arg273Leu)
|
rs762178061
|
|
NM_004329.3(BMPR1A):c.823A>G (p.Thr275Ala)
|
|
|
NM_004329.3(BMPR1A):c.827A>C (p.Glu276Ala)
|
rs1843587797
|
|
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val)
|
rs1060503400
|
|
NM_004329.3(BMPR1A):c.82A>G (p.Ser28Gly)
|
rs1170582171
|
|
NM_004329.3(BMPR1A):c.830T>A (p.Ile277Asn)
|
rs2133577296
|
|
NM_004329.3(BMPR1A):c.839C>G (p.Thr280Ser)
|
rs1064793497
|
|
NM_004329.3(BMPR1A):c.842T>C (p.Val281Ala)
|
|
|
NM_004329.3(BMPR1A):c.845T>G (p.Leu282Arg)
|
|
|
NM_004329.3(BMPR1A):c.850C>T (p.Arg284Cys)
|
rs765530074
|
|
NM_004329.3(BMPR1A):c.851G>A (p.Arg284His)
|
|
|
NM_004329.3(BMPR1A):c.855T>G (p.His285Gln)
|
rs1843588940
|
|
NM_004329.3(BMPR1A):c.857A>T (p.Glu286Val)
|
|
|
NM_004329.3(BMPR1A):c.858A>C (p.Glu286Asp)
|
|
|
NM_004329.3(BMPR1A):c.85A>G (p.Met29Val)
|
|
|
NM_004329.3(BMPR1A):c.866T>G (p.Leu289Arg)
|
rs2133577872
|
|
NM_004329.3(BMPR1A):c.868+3G>C
|
rs1411249361
|
|
NM_004329.3(BMPR1A):c.868+3_868+6del
|
|
|
NM_004329.3(BMPR1A):c.868+5G>A
|
|
|
NM_004329.3(BMPR1A):c.869-6G>A
|
rs1843620547
|
|
NM_004329.3(BMPR1A):c.869-8C>G
|
rs1843620485
|
|
NM_004329.3(BMPR1A):c.869-9A>G
|
rs2133588734
|
|
NM_004329.3(BMPR1A):c.869G>A (p.Gly290Asp)
|
rs876660596
|
|
NM_004329.3(BMPR1A):c.869G>C (p.Gly290Ala)
|
rs876660596
|
|
NM_004329.3(BMPR1A):c.86T>C (p.Met29Thr)
|
rs2133394352
|
|
NM_004329.3(BMPR1A):c.874A>T (p.Ile292Leu)
|
rs746800007
|
|
NM_004329.3(BMPR1A):c.875T>C (p.Ile292Thr)
|
rs2133588959
|
|
NM_004329.3(BMPR1A):c.878C>T (p.Ala293Val)
|
rs1589291509
|
|
NM_004329.3(BMPR1A):c.886A>G (p.Ile296Val)
|
rs1554891019
|
|
NM_004329.3(BMPR1A):c.887T>C (p.Ile296Thr)
|
rs1554891022
|
|
NM_004329.3(BMPR1A):c.88C>T (p.Leu30Phe)
|
|
|
NM_004329.3(BMPR1A):c.890A>G (p.Lys297Arg)
|
rs2133589242
|
|
NM_004329.3(BMPR1A):c.892G>A (p.Gly298Ser)
|
rs1564724125
|
|
NM_004329.3(BMPR1A):c.892G>T (p.Gly298Cys)
|
|
|
NM_004329.3(BMPR1A):c.895A>G (p.Thr299Ala)
|
rs876660756
|
|
NM_004329.3(BMPR1A):c.89T>G (p.Leu30Arg)
|
rs1194403044
|
|
NM_004329.3(BMPR1A):c.901T>A (p.Ser301Thr)
|
rs983870066
|
|
NM_004329.3(BMPR1A):c.902C>A (p.Ser301Tyr)
|
rs876660939
|
|
NM_004329.3(BMPR1A):c.907A>G (p.Thr303Ala)
|
rs1554891025
|
|
NM_004329.3(BMPR1A):c.910C>A (p.Gln304Lys)
|
rs1404557708
|
|
NM_004329.3(BMPR1A):c.917A>G (p.Tyr306Cys)
|
rs955604329
|
|
NM_004329.3(BMPR1A):c.919T>G (p.Leu307Val)
|
rs1843622475
|
|
NM_004329.3(BMPR1A):c.921G>C (p.Leu307Phe)
|
rs1843622524
|
|
NM_004329.3(BMPR1A):c.929A>C (p.Asp310Ala)
|
rs2133589997
|
|
NM_004329.3(BMPR1A):c.92A>C (p.His31Pro)
|
rs1589763313
|
|
NM_004329.3(BMPR1A):c.92A>G (p.His31Arg)
|
rs1589763313
|
|
NM_004329.3(BMPR1A):c.934C>G (p.His312Asp)
|
|
|
NM_004329.3(BMPR1A):c.934C>T (p.His312Tyr)
|
rs1437385150
|
|
NM_004329.3(BMPR1A):c.935A>G (p.His312Arg)
|
rs2133590084
|
|
NM_004329.3(BMPR1A):c.940A>C (p.Asn314His)
|
|
|
NM_004329.3(BMPR1A):c.941A>G (p.Asn314Ser)
|
rs1564724169
|
|
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg)
|
rs730881435
|
|
NM_004329.3(BMPR1A):c.944G>A (p.Gly315Glu)
|
|
|
NM_004329.3(BMPR1A):c.946T>A (p.Ser316Thr)
|
rs1554891039
|
|
NM_004329.3(BMPR1A):c.949C>A (p.Leu317Ile)
|
rs1589291581
|
|
NM_004329.3(BMPR1A):c.949C>G (p.Leu317Val)
|
rs1589291581
|
|
NM_004329.3(BMPR1A):c.952T>C (p.Tyr318His)
|
rs2133590474
|
|
NM_004329.3(BMPR1A):c.953A>C (p.Tyr318Ser)
|
rs587778111
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004329.3(BMPR1A):c.956A>T (p.Asp319Val)
|
|
|
NM_004329.3(BMPR1A):c.95G>A (p.Gly32Asp)
|
rs1843125149
|
|
NM_004329.3(BMPR1A):c.960C>G (p.Phe320Leu)
|
rs1564724183
|
|
NM_004329.3(BMPR1A):c.964A>G (p.Lys322Glu)
|
|
|
NM_004329.3(BMPR1A):c.965A>G (p.Lys322Arg)
|
rs2133590752
|
|
NM_004329.3(BMPR1A):c.967T>A (p.Cys323Ser)
|
rs876660750
|
|
NM_004329.3(BMPR1A):c.967T>C (p.Cys323Arg)
|
rs876660750
|
|
NM_004329.3(BMPR1A):c.967T>G (p.Cys323Gly)
|
rs876660750
|
|
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr)
|
rs187780646
|
|
NM_004329.3(BMPR1A):c.971C>T (p.Ala324Val)
|
|
|
NM_004329.3(BMPR1A):c.973A>G (p.Thr325Ala)
|
rs1554891047
|
|
NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn)
|
rs1843624502
|
|
NM_004329.3(BMPR1A):c.982A>C (p.Thr328Pro)
|
rs2133591098
|
|
NM_004329.3(BMPR1A):c.982A>G (p.Thr328Ala)
|
|
|
NM_004329.3(BMPR1A):c.986G>C (p.Arg329Thr)
|
rs1554891054
|
|
NM_004329.3(BMPR1A):c.988G>A (p.Ala330Thr)
|
rs927151124
|
|
NM_004329.3(BMPR1A):c.988G>C (p.Ala330Pro)
|
|
|
NM_004329.3(BMPR1A):c.989C>T (p.Ala330Val)
|
rs587782092
|
|
NM_004329.3(BMPR1A):c.98C>T (p.Thr33Ile)
|
|
|
NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe)
|
rs2133591377
|
|
NM_004329.3(BMPR1A):c.997A>C (p.Lys333Gln)
|
|
|
NM_004329.3(BMPR1A):c.997A>G (p.Lys333Glu)
|
|
|
NM_004329.3(BMPR1A):c.9G>C (p.Gln3His)
|
rs1589757057
|
|
NM_004333.6(BRAF):c.1205C>A (p.Pro402His)
|
rs199927105
|
|
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)
|
rs2129153151
|
|
NM_004333.6(BRAF):c.1759G>A (p.Asp587Asn)
|
rs2128998452
|
|
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His)
|
rs746010267
|
|
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)
|
rs1033856250
|
|
NM_004336.5(BUB1):c.2374CTT[1] (p.Leu793del)
|
rs779946777
|
|
NM_004360.4(CDH1):c.-124-?_*2042+?dup4815
|
|
|
NM_004360.4(CDH1):c.164-?_*(1_?)dup
|
|
|
NM_004360.5(CDH1):c.*1591T>C
|
rs886052246
|
|
NM_004360.5(CDH1):c.*221del
|
rs145920869
|
|
NM_004360.5(CDH1):c.*221dup
|
rs145920869
|
|
NM_004360.5(CDH1):c.*236C>T
|
rs1961559604
|
|
NM_004360.5(CDH1):c.*29C>A
|
|
|
NM_004360.5(CDH1):c.*309C>T
|
rs562205897
|
|
NM_004360.5(CDH1):c.*3del (p.Ter883=)
|
|
|
NM_004360.5(CDH1):c.*474_*475dup
|
rs113202135
|
|
NM_004360.5(CDH1):c.*475del
|
rs113202135
|
|
NM_004360.5(CDH1):c.*55G>A
|
|
|
NM_004360.5(CDH1):c.*627T>G
|
rs1567518268
|
|
NM_004360.5(CDH1):c.*7C>G
|
|
|
NM_004360.5(CDH1):c.1001A>G (p.Asp334Gly)
|
|
|
NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly)
|
rs587780784
|
|
NM_004360.5(CDH1):c.1006G>C (p.Glu336Gln)
|
rs1960844685
|
|
NM_004360.5(CDH1):c.1008+13_1008+14delinsAT
|
|
|
NM_004360.5(CDH1):c.1008+3C>T
|
|
|
NM_004360.5(CDH1):c.1008+4_1008+5del
|
rs1597894346
|
|
NM_004360.5(CDH1):c.1008+5G>C
|
rs747041054
|
|
NM_004360.5(CDH1):c.1008+6G>A
|
rs1960845278
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
NM_004360.5(CDH1):c.1009-32G>A
|
|
|
NM_004360.5(CDH1):c.1009-3C>G
|
|
|
NM_004360.5(CDH1):c.1009-6C>A
|
rs771652165
|
|
NM_004360.5(CDH1):c.100G>C (p.Ala34Pro)
|
rs1486768673
|
|
NM_004360.5(CDH1):c.100G>T (p.Ala34Ser)
|
rs1486768673
|
|
NM_004360.5(CDH1):c.1012T>G (p.Phe338Val)
|
rs2152132486
|
|
NM_004360.5(CDH1):c.1013T>A (p.Phe338Tyr)
|
rs1060501219
|
|
NM_004360.5(CDH1):c.1013T>G (p.Phe338Cys)
|
rs1060501219
|
|
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)
|
rs1555515709
|
|
NM_004360.5(CDH1):c.1015C>T (p.Pro339Ser)
|
|
|
NM_004360.5(CDH1):c.1016C>G (p.Pro339Arg)
|
rs1597894647
|
|
NM_004360.5(CDH1):c.1016C>T (p.Pro339Leu)
|
|
|
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser)
|
rs116093741
|
|
NM_004360.5(CDH1):c.1022A>G (p.Tyr341Cys)
|
rs1960854403
|
|
NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)
|
|
|
NM_004360.5(CDH1):c.1025C>A (p.Thr342Asn)
|
rs2152132510
|
|
NM_004360.5(CDH1):c.1027C>A (p.Leu343Met)
|
rs1555515720
|
|
NM_004360.5(CDH1):c.1027C>G (p.Leu343Val)
|
rs1555515720
|
|
NM_004360.5(CDH1):c.1033G>A (p.Val345Ile)
|
rs764532067
|
|
NM_004360.5(CDH1):c.1034T>C (p.Val345Ala)
|
rs1064793080
|
|
NM_004360.5(CDH1):c.1036C>G (p.Gln346Glu)
|
rs878854676
|
|
NM_004360.5(CDH1):c.1039G>A (p.Ala347Thr)
|
rs587782869
|
|
NM_004360.5(CDH1):c.103G>A (p.Glu35Lys)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1042G>A (p.Ala348Thr)
|
rs1555515724
|
|
NM_004360.5(CDH1):c.1042G>T (p.Ala348Ser)
|
rs1555515724
|
|
NM_004360.5(CDH1):c.1048C>A (p.Leu350Ile)
|
|
|
NM_004360.5(CDH1):c.1051C>G (p.Gln351Glu)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1052A>G (p.Gln351Arg)
|
rs762123073
|
|
NM_004360.5(CDH1):c.1055G>A (p.Gly352Asp)
|
rs1555515728
|
|
NM_004360.5(CDH1):c.1056T>C (p.Gly352=)
|
|
|
NM_004360.5(CDH1):c.1058A>T (p.Glu353Val)
|
rs1555515730
|
|
NM_004360.5(CDH1):c.105G>C (p.Glu35Asp)
|
rs876660131
|
|
NM_004360.5(CDH1):c.1060G>T (p.Gly354Trp)
|
|
|
NM_004360.5(CDH1):c.1061G>C (p.Gly354Ala)
|
rs1960856637
|
|
NM_004360.5(CDH1):c.106A>T (p.Ser36Cys)
|
rs1555509773
|
|
NM_004360.5(CDH1):c.1072A>G (p.Thr358Ala)
|
|
|
NM_004360.5(CDH1):c.1075G>A (p.Ala359Thr)
|
rs2152132614
|
|
NM_004360.5(CDH1):c.1075G>T (p.Ala359Ser)
|
rs2152132614
|
|
NM_004360.5(CDH1):c.1076C>T (p.Ala359Val)
|
rs1960857478
|
|
NM_004360.5(CDH1):c.1078A>G (p.Thr360Ala)
|
|
|
NM_004360.5(CDH1):c.1079C>T (p.Thr360Ile)
|
rs549579183
|
|
NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)
|
rs1064794682
|
|
NM_004360.5(CDH1):c.1081G>A (p.Ala361Thr)
|
rs2152132621
|
|
NM_004360.5(CDH1):c.1081G>C (p.Ala361Pro)
|
|
|
NM_004360.5(CDH1):c.1081G>T (p.Ala361Ser)
|
rs2152132621
|
|
NM_004360.5(CDH1):c.1081_1082delinsCA (p.Ala361His)
|
|
|
NM_004360.5(CDH1):c.1083T>G (p.Ala361=)
|
|
|
NM_004360.5(CDH1):c.1084G>A (p.Val362Met)
|
|
|
NM_004360.5(CDH1):c.1087A>C (p.Ile363Leu)
|
rs1555515740
|
|
NM_004360.5(CDH1):c.1087A>G (p.Ile363Val)
|
rs1555515740
|
|
NM_004360.5(CDH1):c.1090A>G (p.Thr364Ala)
|
|
|
NM_004360.5(CDH1):c.1091C>G (p.Thr364Arg)
|
rs876658376
|
|
NM_004360.5(CDH1):c.1091C>T (p.Thr364Ile)
|
rs876658376
|
|
NM_004360.5(CDH1):c.1093G>A (p.Val365Ile)
|
rs1555515742
|
|
NM_004360.5(CDH1):c.1093G>C (p.Val365Leu)
|
rs1555515742
|
|
NM_004360.5(CDH1):c.1096A>C (p.Thr366Pro)
|
rs1060501238
|
|
NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)
|
rs1060501238
|
|
NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)
|
rs876660260
|
|
NM_004360.5(CDH1):c.10T>G (p.Trp4Gly)
|
|
|
NM_004360.5(CDH1):c.1102A>G (p.Thr368Ala)
|
rs1555515749
|
|
NM_004360.5(CDH1):c.1103C>A (p.Thr368Asn)
|
rs367868307
|
|
NM_004360.5(CDH1):c.1103C>G (p.Thr368Ser)
|
rs367868307
|
|
NM_004360.5(CDH1):c.1105A>C (p.Asn369His)
|
|
|
NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)
|
rs1960858920
|
|
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
|
|
|
NM_004360.5(CDH1):c.1108G>A (p.Asp370Asn)
|
rs1960859184
|
|
NM_004360.5(CDH1):c.110A>G (p.Tyr37Cys)
|
|
|
NM_004360.5(CDH1):c.1112A>C (p.Asn371Thr)
|
rs1555515754
|
|
NM_004360.5(CDH1):c.1112A>G (p.Asn371Ser)
|
rs1555515754
|
|
NM_004360.5(CDH1):c.1114C>A (p.Pro372Thr)
|
rs1555515758
|
|
NM_004360.5(CDH1):c.1114C>G (p.Pro372Ala)
|
|
|
NM_004360.5(CDH1):c.1115C>T (p.Pro372Leu)
|
rs1555515760
|
|
NM_004360.5(CDH1):c.1122C>A (p.Ile374=)
|
|
|
NM_004360.5(CDH1):c.1123T>G (p.Phe375Val)
|
rs1597894887
|
|
NM_004360.5(CDH1):c.1124T>A (p.Phe375Tyr)
|
rs1960860209
|
|
NM_004360.5(CDH1):c.1126A>C (p.Asn376His)
|
rs777527338
|
|
NM_004360.5(CDH1):c.1127A>C (p.Asn376Thr)
|
|
|
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)
|
rs786203442
|
|
NM_004360.5(CDH1):c.1137+106A>G
|
|
|
NM_004360.5(CDH1):c.1137+114A>C
|
|
|
NM_004360.5(CDH1):c.1137+4A>C
|
rs967063432
|
|
NM_004360.5(CDH1):c.1137+4A>G
|
rs967063432
|
|
NM_004360.5(CDH1):c.1137+6T>C
|
rs1960861386
|
|
NM_004360.5(CDH1):c.1137+81C>T
|
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
NM_004360.5(CDH1):c.1137+9A>T
|
rs780705655
|
|
NM_004360.5(CDH1):c.1138-22G>T
|
|
|
NM_004360.5(CDH1):c.1138-5T>G
|
rs763879027
|
|
NM_004360.5(CDH1):c.113C>A (p.Thr38Lys)
|
rs587778171
|
|
NM_004360.5(CDH1):c.113C>G (p.Thr38Arg)
|
rs587778171
|
|
NM_004360.5(CDH1):c.113C>T (p.Thr38Met)
|
rs587778171
|
|
NM_004360.5(CDH1):c.1142A>G (p.Lys381Arg)
|
rs780867132
|
|
NM_004360.5(CDH1):c.1144G>A (p.Gly382Ser)
|
rs1597895701
|
|
NM_004360.5(CDH1):c.1145G>T (p.Gly382Val)
|
rs1567507684
|
|
NM_004360.5(CDH1):c.1150G>A (p.Val384Met)
|
|
|
NM_004360.5(CDH1):c.1153C>A (p.Pro385Thr)
|
rs587781612
|
|
NM_004360.5(CDH1):c.1153C>G (p.Pro385Ala)
|
|
|
NM_004360.5(CDH1):c.1153C>T (p.Pro385Ser)
|
|
|
NM_004360.5(CDH1):c.1156G>A (p.Glu386Lys)
|
rs2152133328
|
|
NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)
|
rs2152133333
|
|
NM_004360.5(CDH1):c.1159A>T (p.Asn387Tyr)
|
|
|
NM_004360.5(CDH1):c.1160A>C (p.Asn387Thr)
|
|
|
NM_004360.5(CDH1):c.1160A>G (p.Asn387Ser)
|
rs779426744
|
|
NM_004360.5(CDH1):c.1161C>A (p.Asn387Lys)
|
rs111266450
|
|
NM_004360.5(CDH1):c.1162G>C (p.Glu388Gln)
|
rs372838203
|
|
NM_004360.5(CDH1):c.1163A>G (p.Glu388Gly)
|
rs1960890872
|
|
NM_004360.5(CDH1):c.1163_1171dup (p.Glu388_Asn390dup)
|
rs772580163
|
|
NM_004360.5(CDH1):c.1165G>A (p.Ala389Thr)
|
rs1597895749
|
|
NM_004360.5(CDH1):c.1166C>A (p.Ala389Asp)
|
rs1555515869
|
|
NM_004360.5(CDH1):c.1166C>T (p.Ala389Val)
|
rs1555515869
|
|
NM_004360.5(CDH1):c.1168A>G (p.Asn390Asp)
|
rs1555515870
|
|
NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser)
|
rs964044070
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
NM_004360.5(CDH1):c.1170CGT[1] (p.Val392del)
|
rs1555515872
|
|
NM_004360.5(CDH1):c.1171G>T (p.Val391Phe)
|
rs556110297
|
|
NM_004360.5(CDH1):c.1172T>C (p.Val391Ala)
|
rs1555515873
|
|
NM_004360.5(CDH1):c.1172T>G (p.Val391Gly)
|
rs1555515873
|
|
NM_004360.5(CDH1):c.1177A>G (p.Ile393Val)
|
rs1555515877
|
|
NM_004360.5(CDH1):c.1179CAC[1] (p.Thr395del)
|
rs1060501249
|
|
NM_004360.5(CDH1):c.1180A>G (p.Thr394Ala)
|
rs1567507749
|
|
NM_004360.5(CDH1):c.1181C>A (p.Thr394Asn)
|
rs1332444039
|
|
NM_004360.5(CDH1):c.1181C>G (p.Thr394Ser)
|
|
|
NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)
|
rs201135424
|
|
NM_004360.5(CDH1):c.1184C>T (p.Thr395Ile)
|
rs587781751
|
|
NM_004360.5(CDH1):c.1186C>A (p.Leu396Met)
|
rs1597895834
|
|
NM_004360.5(CDH1):c.1189A>G (p.Lys397Glu)
|
|
|
NM_004360.5(CDH1):c.118A>G (p.Thr40Ala)
|
|
|
NM_004360.5(CDH1):c.1190A>C (p.Lys397Thr)
|
|
|
NM_004360.5(CDH1):c.1192G>A (p.Val398Met)
|
rs2152133395
|
|
NM_004360.5(CDH1):c.1194G>A (p.Val398=)
|
rs1303655653
|
|
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)
|
rs1960893142
|
|
NM_004360.5(CDH1):c.119C>T (p.Thr40Met)
|
rs1962460411
|
|
NM_004360.5(CDH1):c.1201G>A (p.Ala401Thr)
|
rs553525438
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
NM_004360.5(CDH1):c.1207G>T (p.Ala403Ser)
|
rs1960893623
|
|
NM_004360.5(CDH1):c.1208C>T (p.Ala403Val)
|
rs1960893696
|
|
NM_004360.5(CDH1):c.1210C>A (p.Pro404Thr)
|
|
|
NM_004360.5(CDH1):c.1210C>G (p.Pro404Ala)
|
rs1334047600
|
|
NM_004360.5(CDH1):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004360.5(CDH1):c.1214A>C (p.Asn405Thr)
|
|
|
NM_004360.5(CDH1):c.1214A>T (p.Asn405Ile)
|
rs587778175
|
|
NM_004360.5(CDH1):c.1215T>A (p.Asn405Lys)
|
rs1555515891
|
|
NM_004360.5(CDH1):c.1217C>A (p.Thr406Asn)
|
rs753770270
|
|
NM_004360.5(CDH1):c.1219C>G (p.Pro407Ala)
|
rs2152133456
|
|
NM_004360.5(CDH1):c.121G>T (p.Val41Leu)
|
rs786202465
|
|
NM_004360.5(CDH1):c.1220C>T (p.Pro407Leu)
|
rs1060501236
|
|
NM_004360.5(CDH1):c.1222G>C (p.Ala408Pro)
|
rs1960894869
|
|
NM_004360.5(CDH1):c.1222G>T (p.Ala408Ser)
|
|
|
NM_004360.5(CDH1):c.1223C>A (p.Ala408Glu)
|
|
|
NM_004360.5(CDH1):c.1223C>G (p.Ala408Gly)
|
rs138135866
|
|
NM_004360.5(CDH1):c.1228G>C (p.Glu410Gln)
|
rs187906987
|
|
NM_004360.5(CDH1):c.122T>G (p.Val41Gly)
|
|
|
NM_004360.5(CDH1):c.1231G>A (p.Ala411Thr)
|
rs2152133489
|
|
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)
|
rs587782189
|
|
NM_004360.5(CDH1):c.1235T>C (p.Val412Ala)
|
rs1960895805
|
|
NM_004360.5(CDH1):c.1238A>G (p.Tyr413Cys)
|
rs2152133505
|
|
NM_004360.5(CDH1):c.1240A>G (p.Thr414Ala)
|
rs863224723
|
|
NM_004360.5(CDH1):c.1241C>G (p.Thr414Ser)
|
rs755571454
|
|
NM_004360.5(CDH1):c.1241C>T (p.Thr414Ile)
|
rs755571454
|
|
NM_004360.5(CDH1):c.1248G>T (p.Leu416Phe)
|
|
|
NM_004360.5(CDH1):c.1249A>C (p.Asn417His)
|
rs1597896022
|
|
NM_004360.5(CDH1):c.124C>T (p.Pro42Ser)
|
rs1962460692
|
|
NM_004360.5(CDH1):c.1250ATG[2] (p.Asp419del)
|
|
|
NM_004360.5(CDH1):c.1252G>A (p.Asp418Asn)
|
|
|
NM_004360.5(CDH1):c.1253A>G (p.Asp418Gly)
|
|
|
NM_004360.5(CDH1):c.1253A>T (p.Asp418Val)
|
|
|
NM_004360.5(CDH1):c.1254T>A (p.Asp418Glu)
|
rs1057520936
|
|
NM_004360.5(CDH1):c.1255G>A (p.Asp419Asn)
|
rs1597896057
|
|
NM_004360.5(CDH1):c.1256A>C (p.Asp419Ala)
|
rs2152133545
|
|
NM_004360.5(CDH1):c.1256A>G (p.Asp419Gly)
|
rs2152133545
|
|
NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)
|
rs775730054
|
|
NM_004360.5(CDH1):c.1258G>A (p.Gly420Ser)
|
rs1960897887
|
|
NM_004360.5(CDH1):c.1259G>A (p.Gly420Asp)
|
rs878854677
|
|
NM_004360.5(CDH1):c.1259G>T (p.Gly420Val)
|
rs878854677
|
|
NM_004360.5(CDH1):c.125C>G (p.Pro42Arg)
|
rs876659333
|
|
NM_004360.5(CDH1):c.1262G>A (p.Gly421Glu)
|
rs2152133559
|
|
NM_004360.5(CDH1):c.1265A>G (p.Gln422Arg)
|
rs2152133567
|
|
NM_004360.5(CDH1):c.1267T>C (p.Phe423Leu)
|
rs786202027
|
|
NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)
|
rs570930882
|
|
NM_004360.5(CDH1):c.1274T>C (p.Val425Ala)
|
|
|
NM_004360.5(CDH1):c.1277C>A (p.Thr426Asn)
|
rs876658901
|
|
NM_004360.5(CDH1):c.1277C>T (p.Thr426Ile)
|
rs876658901
|
|
NM_004360.5(CDH1):c.127C>G (p.Arg43Gly)
|
|
|
NM_004360.5(CDH1):c.127C>T (p.Arg43Trp)
|
rs1962460987
|
|
NM_004360.5(CDH1):c.1280C>A (p.Thr427Lys)
|
rs2152133597
|
|
NM_004360.5(CDH1):c.1285C>T (p.Pro429Ser)
|
rs1597896121
|
|
NM_004360.5(CDH1):c.1286C>T (p.Pro429Leu)
|
rs876658766
|
|
NM_004360.5(CDH1):c.1288G>A (p.Val430Met)
|
|
|
NM_004360.5(CDH1):c.1288G>C (p.Val430Leu)
|
rs1960899829
|
|
NM_004360.5(CDH1):c.1289T>C (p.Val430Ala)
|
rs730881665
|
|
NM_004360.5(CDH1):c.128G>A (p.Arg43Gln)
|
rs1962461060
|
|
NM_004360.5(CDH1):c.128G>C (p.Arg43Pro)
|
|
|
NM_004360.5(CDH1):c.1291AAC[1] (p.Asn432del)
|
rs1567507933
|
|
NM_004360.5(CDH1):c.1294A>G (p.Asn432Asp)
|
rs2152133625
|
|
NM_004360.5(CDH1):c.1295A>G (p.Asn432Ser)
|
rs1230641631
|
|
NM_004360.5(CDH1):c.1298A>T (p.Asp433Val)
|
|
|
NM_004360.5(CDH1):c.129_163+9dup
|
|
|
NM_004360.5(CDH1):c.1300G>A (p.Gly434Ser)
|
|
|
NM_004360.5(CDH1):c.1301G>A (p.Gly434Asp)
|
rs1555515914
|
|
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)
|
rs864622644
|
|
NM_004360.5(CDH1):c.1303A>T (p.Ile435Phe)
|
rs864622644
|
|
NM_004360.5(CDH1):c.1304T>A (p.Ile435Asn)
|
|
|
NM_004360.5(CDH1):c.1306T>A (p.Leu436Met)
|
rs1555515917
|
|
NM_004360.5(CDH1):c.1308G>C (p.Leu436Phe)
|
rs557551011
|
|
NM_004360.5(CDH1):c.1309A>C (p.Lys437Gln)
|
rs786201841
|
|
NM_004360.5(CDH1):c.1313C>G (p.Thr438Arg)
|
rs876658218
|
|
NM_004360.5(CDH1):c.1313C>T (p.Thr438Ile)
|
rs876658218
|
|
NM_004360.5(CDH1):c.1316C>A (p.Ala439Glu)
|
rs1597896180
|
|
NM_004360.5(CDH1):c.131G>T (p.Arg44Leu)
|
rs1375178645
|
|
NM_004360.5(CDH1):c.1320+17_1320+18insTAAGATG
|
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
|
|
NM_004360.5(CDH1):c.1320+43C>G
|
|
|
NM_004360.5(CDH1):c.1320+5G>C
|
rs1567508007
|
|
NM_004360.5(CDH1):c.1321-140T>C
|
|
|
NM_004360.5(CDH1):c.1321-37T>C
|
|
|
NM_004360.5(CDH1):c.1321-3T>C
|
|
|
NM_004360.5(CDH1):c.1321-49A>G
|
|
|
NM_004360.5(CDH1):c.1321-65A>T
|
|
|
NM_004360.5(CDH1):c.1321G>A (p.Gly441Ser)
|
rs1960957210
|
|
NM_004360.5(CDH1):c.1322G>T (p.Gly441Val)
|
rs2152134670
|
|
NM_004360.5(CDH1):c.1323C>T (p.Gly441=)
|
rs763647680
|
|
NM_004360.5(CDH1):c.1326G>C (p.Leu442Phe)
|
rs1555516080
|
|
NM_004360.5(CDH1):c.1327G>A (p.Asp443Asn)
|
rs2152134678
|
|
NM_004360.5(CDH1):c.1328A>G (p.Asp443Gly)
|
rs1555516083
|
|
NM_004360.5(CDH1):c.1330T>C (p.Phe444Leu)
|
|
|
NM_004360.5(CDH1):c.1332T>A (p.Phe444Leu)
|
rs1392114487
|
|
NM_004360.5(CDH1):c.1333G>C (p.Glu445Gln)
|
rs864622184
|
|
NM_004360.5(CDH1):c.1336G>A (p.Ala446Thr)
|
rs876661078
|
|
NM_004360.5(CDH1):c.1337C>A (p.Ala446Asp)
|
|
|
NM_004360.5(CDH1):c.1337C>T (p.Ala446Val)
|
rs1960958031
|
|
NM_004360.5(CDH1):c.1348T>C (p.Tyr450His)
|
rs750741214
|
|
NM_004360.5(CDH1):c.1348T>G (p.Tyr450Asp)
|
rs750741214
|
|
NM_004360.5(CDH1):c.134A>C (p.His45Pro)
|
rs1962461369
|
|
NM_004360.5(CDH1):c.134A>T (p.His45Leu)
|
rs1962461369
|
|
NM_004360.5(CDH1):c.1351A>T (p.Ile451Phe)
|
rs377416092
|
|
NM_004360.5(CDH1):c.1357C>A (p.His453Asn)
|
rs1597897817
|
|
NM_004360.5(CDH1):c.1357C>T (p.His453Tyr)
|
|
|
NM_004360.5(CDH1):c.1358A>G (p.His453Arg)
|
rs1960959163
|
|
NM_004360.5(CDH1):c.1359C>A (p.His453Gln)
|
rs114861467
|
|
NM_004360.5(CDH1):c.135C>G (p.His45Gln)
|
|
|
NM_004360.5(CDH1):c.1360G>C (p.Val454Leu)
|
rs587780112
|
|
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)
|
rs876659762
|
|
NM_004360.5(CDH1):c.1363G>T (p.Ala455Ser)
|
rs876659762
|
|
NM_004360.5(CDH1):c.1364C>G (p.Ala455Gly)
|
rs532576241
|
|
NM_004360.5(CDH1):c.1366G>A (p.Val456Met)
|
rs974965262
|
|
NM_004360.5(CDH1):c.1366G>C (p.Val456Leu)
|
rs974965262
|
|
NM_004360.5(CDH1):c.1366G>T (p.Val456Leu)
|
rs974965262
|
|
NM_004360.5(CDH1):c.136C>G (p.Leu46Val)
|
rs1410833063
|
|
NM_004360.5(CDH1):c.1371G>T (p.Thr457=)
|
|
|
NM_004360.5(CDH1):c.1375G>A (p.Val459Met)
|
rs1567508837
|
|
NM_004360.5(CDH1):c.1376T>C (p.Val459Ala)
|
rs1555516109
|
|
NM_004360.5(CDH1):c.1378G>C (p.Val460Leu)
|
rs2152134785
|
|
NM_004360.5(CDH1):c.1379T>A (p.Val460Glu)
|
rs1960960367
|
|
NM_004360.5(CDH1):c.1379T>C (p.Val460Ala)
|
rs1960960367
|
|
NM_004360.5(CDH1):c.1381C>A (p.Pro461Thr)
|
rs1355592880
|
|
NM_004360.5(CDH1):c.1382C>A (p.Pro461His)
|
rs876659268
|
|
NM_004360.5(CDH1):c.1382C>T (p.Pro461Leu)
|
rs876659268
|
|
NM_004360.5(CDH1):c.1385T>C (p.Phe462Ser)
|
rs587782622
|
|
NM_004360.5(CDH1):c.1387G>A (p.Glu463Lys)
|
rs1960961009
|
|
NM_004360.5(CDH1):c.1390G>A (p.Val464Ile)
|
rs1597897887
|
|
NM_004360.5(CDH1):c.1391T>C (p.Val464Ala)
|
rs2152134812
|
|
NM_004360.5(CDH1):c.1397T>C (p.Leu466Pro)
|
rs2152134822
|
|
NM_004360.5(CDH1):c.1399A>G (p.Thr467Ala)
|
rs1597897918
|
|
NM_004360.5(CDH1):c.139G>C (p.Glu47Gln)
|
rs2152114456
|
|
NM_004360.5(CDH1):c.13A>G (p.Ser5Gly)
|
rs1555509637
|
|
NM_004360.5(CDH1):c.1401C>T (p.Thr467=)
|
|
|
NM_004360.5(CDH1):c.1403C>T (p.Thr468Ile)
|
rs876659141
|
|
NM_004360.5(CDH1):c.1406C>G (p.Ser469Cys)
|
|
|
NM_004360.5(CDH1):c.1406C>T (p.Ser469Phe)
|
|
|
NM_004360.5(CDH1):c.140A>G (p.Glu47Gly)
|
rs2152114458
|
|
NM_004360.5(CDH1):c.1415C>A (p.Thr472Asn)
|
rs2152134870
|
|
NM_004360.5(CDH1):c.1415C>T (p.Thr472Ile)
|
|
|
NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala)
|
rs773858736
|
|
NM_004360.5(CDH1):c.1421C>T (p.Thr474Ile)
|
rs1555516124
|
|
NM_004360.5(CDH1):c.1424T>C (p.Val475Ala)
|
rs1060501217
|
|
NM_004360.5(CDH1):c.1424T>G (p.Val475Gly)
|
|
|
NM_004360.5(CDH1):c.1426G>A (p.Asp476Asn)
|
|
|
NM_004360.5(CDH1):c.1429G>A (p.Val477Met)
|
rs1960963393
|
|
NM_004360.5(CDH1):c.1430T>A (p.Val477Glu)
|
rs1960963485
|
|
NM_004360.5(CDH1):c.1433T>C (p.Leu478Pro)
|
rs35520415
|
|
NM_004360.5(CDH1):c.1435G>A (p.Asp479Asn)
|
rs587782796
|
|
NM_004360.5(CDH1):c.1435G>C (p.Asp479His)
|
rs587782796
|
|
NM_004360.5(CDH1):c.1435G>T (p.Asp479Tyr)
|
rs587782796
|
|
NM_004360.5(CDH1):c.1436A>G (p.Asp479Gly)
|
rs1555516131
|
|
NM_004360.5(CDH1):c.1436A>T (p.Asp479Val)
|
rs1555516131
|
|
NM_004360.5(CDH1):c.1437T>G (p.Asp479Glu)
|
|
|
NM_004360.5(CDH1):c.1438G>A (p.Val480Met)
|
rs786202675
|
|
NM_004360.5(CDH1):c.143G>C (p.Arg48Thr)
|
|
|
NM_004360.5(CDH1):c.1444G>A (p.Glu482Lys)
|
rs1555516138
|
|
NM_004360.5(CDH1):c.1446A>C (p.Glu482Asp)
|
rs863224724
|
|
NM_004360.5(CDH1):c.1448C>G (p.Ala483Gly)
|
|
|
NM_004360.5(CDH1):c.1448C>T (p.Ala483Val)
|
rs1960964468
|
|
NM_004360.5(CDH1):c.1451C>T (p.Pro484Leu)
|
rs1960964657
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
NM_004360.5(CDH1):c.1454T>G (p.Ile485Ser)
|
rs587783049
|
|
NM_004360.5(CDH1):c.1456T>A (p.Phe486Ile)
|
rs1331977824
|
|
NM_004360.5(CDH1):c.1459G>A (p.Val487Met)
|
|
|
NM_004360.5(CDH1):c.145G>A (p.Gly49Ser)
|
rs1060501223
|
|
NM_004360.5(CDH1):c.145G>C (p.Gly49Arg)
|
rs1060501223
|
|
NM_004360.5(CDH1):c.1462C>G (p.Pro488Ala)
|
rs1555516144
|
|
NM_004360.5(CDH1):c.1462C>T (p.Pro488Ser)
|
rs1555516144
|
|
NM_004360.5(CDH1):c.1463C>G (p.Pro488Arg)
|
|
|
NM_004360.5(CDH1):c.1465C>T (p.Pro489Ser)
|
rs786202508
|
|
NM_004360.5(CDH1):c.1466C>A (p.Pro489His)
|
rs766713582
|
|
NM_004360.5(CDH1):c.1466C>T (p.Pro489Leu)
|
rs766713582
|
|
NM_004360.5(CDH1):c.1468G>A (p.Glu490Lys)
|
rs1555516147
|
|
NM_004360.5(CDH1):c.1469A>G (p.Glu490Gly)
|
rs1960966026
|
|
NM_004360.5(CDH1):c.146G>A (p.Gly49Asp)
|
|
|
NM_004360.5(CDH1):c.1474A>G (p.Arg492Gly)
|
rs2152134985
|
|
NM_004360.5(CDH1):c.1475G>C (p.Arg492Thr)
|
rs587781286
|
|
NM_004360.5(CDH1):c.147_163+1del
|
rs1555509779
|
|
NM_004360.5(CDH1):c.1480G>A (p.Glu494Lys)
|
|
|
NM_004360.5(CDH1):c.1481A>G (p.Glu494Gly)
|
rs1555516153
|
|
NM_004360.5(CDH1):c.1483G>T (p.Val495Leu)
|
rs931521632
|
|
NM_004360.5(CDH1):c.1484T>G (p.Val495Gly)
|
|
|
NM_004360.5(CDH1):c.1486T>C (p.Ser496Pro)
|
|
|
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)
|
rs1567508990
|
|
NM_004360.5(CDH1):c.148C>G (p.Arg50Gly)
|
rs876659739
|
|
NM_004360.5(CDH1):c.148C>T (p.Arg50Cys)
|
rs876659739
|
|
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)
|
rs2152135021
|
|
NM_004360.5(CDH1):c.1496T>C (p.Phe499Ser)
|
rs1555516163
|
|
NM_004360.5(CDH1):c.149G>A (p.Arg50His)
|
|
|
NM_004360.5(CDH1):c.14G>A (p.Ser5Asn)
|
rs998138284
|
|
NM_004360.5(CDH1):c.1501G>T (p.Val501Leu)
|
rs368690400
|
|
NM_004360.5(CDH1):c.1502T>G (p.Val501Gly)
|
rs1960968094
|
|
NM_004360.5(CDH1):c.1504G>T (p.Gly502Cys)
|
rs2152135049
|
|
NM_004360.5(CDH1):c.1505G>A (p.Gly502Asp)
|
rs1597898169
|
|
NM_004360.5(CDH1):c.1509G>C (p.Gln503His)
|
rs876659548
|
|
NM_004360.5(CDH1):c.1510G>A (p.Glu504Lys)
|
rs1555516170
|
|
NM_004360.5(CDH1):c.1512A>G (p.Glu504=)
|
rs748906857
|
|
NM_004360.5(CDH1):c.1513A>G (p.Ile505Val)
|
|
|
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr)
|
rs1597898186
|
|
NM_004360.5(CDH1):c.1517C>T (p.Thr506Ile)
|
rs1960969012
|
|
NM_004360.5(CDH1):c.1519T>A (p.Ser507Thr)
|
|
|
NM_004360.5(CDH1):c.1520C>T (p.Ser507Phe)
|
rs2152135087
|
|
NM_004360.5(CDH1):c.1521_1538del (p.Tyr508_Pro513del)
|
rs1567509020
|
|
NM_004360.5(CDH1):c.1522T>A (p.Tyr508Asn)
|
rs1555516173
|
|
NM_004360.5(CDH1):c.1525A>T (p.Thr509Ser)
|
rs761356661
|
|
NM_004360.5(CDH1):c.1526C>T (p.Thr509Ile)
|
rs771551231
|
|
NM_004360.5(CDH1):c.1529C>A (p.Ala510Asp)
|
rs1344960746
|
|
NM_004360.5(CDH1):c.1529C>T (p.Ala510Val)
|
rs1344960746
|
|
NM_004360.5(CDH1):c.152T>C (p.Val51Ala)
|
|
|
NM_004360.5(CDH1):c.152T>G (p.Val51Gly)
|
|
|
NM_004360.5(CDH1):c.1532A>G (p.Gln511Arg)
|
rs1555516178
|
|
NM_004360.5(CDH1):c.1533G>T (p.Gln511His)
|
rs876658342
|
|
NM_004360.5(CDH1):c.1536G>T (p.Glu512Asp)
|
rs1597898279
|
|
NM_004360.5(CDH1):c.1538C>T (p.Pro513Leu)
|
rs1555516185
|
|
NM_004360.5(CDH1):c.1543A>T (p.Thr515Ser)
|
rs1219371636
|
|
NM_004360.5(CDH1):c.1544C>T (p.Thr515Ile)
|
rs1555516188
|
|
NM_004360.5(CDH1):c.1549A>G (p.Met517Val)
|
rs876658146
|
|
NM_004360.5(CDH1):c.1550T>A (p.Met517Lys)
|
rs786203656
|
|
NM_004360.5(CDH1):c.1550T>G (p.Met517Arg)
|
rs786203656
|
|
NM_004360.5(CDH1):c.1552G>A (p.Glu518Lys)
|
rs1597898324
|
|
NM_004360.5(CDH1):c.1553A>C (p.Glu518Ala)
|
rs2152135146
|
|
NM_004360.5(CDH1):c.1558A>G (p.Lys520Glu)
|
rs1555516192
|
|
NM_004360.5(CDH1):c.155T>C (p.Leu52Pro)
|
rs1367719041
|
|
NM_004360.5(CDH1):c.1561A>G (p.Ile521Val)
|
rs1567509105
|
|
NM_004360.5(CDH1):c.1565+12G>T
|
|
|
NM_004360.5(CDH1):c.1565+13A>G
|
rs1057522979
|
|
NM_004360.5(CDH1):c.1565+3A>C
|
|
|
NM_004360.5(CDH1):c.1565+3A>G
|
rs1555516202
|
|
NM_004360.5(CDH1):c.1565+3_1565+6del
|
rs1597898359
|
|
NM_004360.5(CDH1):c.1565+5G>A
|
rs786201861
|
|
NM_004360.5(CDH1):c.1565+5del
|
rs1555516205
|
|
NM_004360.5(CDH1):c.1565+6T>C
|
rs587780785
|
|
NM_004360.5(CDH1):c.1565C>A (p.Thr522Lys)
|
rs863224725
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
NM_004360.5(CDH1):c.1566-38T>G
|
|
|
NM_004360.5(CDH1):c.1566-3C>G
|
rs113057579
|
|
NM_004360.5(CDH1):c.1566-3C>T
|
rs113057579
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
NM_004360.5(CDH1):c.1566-9C>G
|
rs1555516509
|
|
NM_004360.5(CDH1):c.1566A>G (p.Thr522=)
|
rs1555516521
|
|
NM_004360.5(CDH1):c.1566A>T (p.Thr522=)
|
rs1555516521
|
|
NM_004360.5(CDH1):c.1567T>C (p.Tyr523His)
|
rs1473643691
|
|
NM_004360.5(CDH1):c.1570C>G (p.Arg524Gly)
|
rs373605261
|
|
NM_004360.5(CDH1):c.1570C>T (p.Arg524Trp)
|
rs373605261
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
|
NM_004360.5(CDH1):c.1578G>C (p.Trp526Cys)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
NM_004360.5(CDH1):c.1586C>A (p.Thr529Asn)
|
|
|
NM_004360.5(CDH1):c.1586C>T (p.Thr529Ile)
|
rs1961073180
|
|
NM_004360.5(CDH1):c.1588G>C (p.Ala530Pro)
|
rs1555516534
|
|
NM_004360.5(CDH1):c.1589C>T (p.Ala530Val)
|
rs1961073536
|
|
NM_004360.5(CDH1):c.1592A>G (p.Asn531Ser)
|
rs1596960354
|
|
NM_004360.5(CDH1):c.1593C>A (p.Asn531Lys)
|
rs1596960362
|
|
NM_004360.5(CDH1):c.1598T>C (p.Leu533Pro)
|
rs1961074036
|
|
NM_004360.5(CDH1):c.1602G>C (p.Glu534Asp)
|
|
|
NM_004360.5(CDH1):c.1603A>C (p.Ile535Leu)
|
rs144519845
|
|
NM_004360.5(CDH1):c.1603A>G (p.Ile535Val)
|
rs144519845
|
|
NM_004360.5(CDH1):c.1603A>T (p.Ile535Phe)
|
rs144519845
|
|
NM_004360.5(CDH1):c.1609C>T (p.Pro537Ser)
|
rs1961074729
|
|
NM_004360.5(CDH1):c.1610C>G (p.Pro537Arg)
|
rs730881667
|
|
NM_004360.5(CDH1):c.1612G>A (p.Asp538Asn)
|
rs756154596
|
|
NM_004360.5(CDH1):c.1615A>G (p.Thr539Ala)
|
rs864622070
|
|
NM_004360.5(CDH1):c.1616C>G (p.Thr539Ser)
|
rs1961075409
|
|
NM_004360.5(CDH1):c.1616C>T (p.Thr539Ile)
|
rs1961075409
|
|
NM_004360.5(CDH1):c.1618G>A (p.Gly540Ser)
|
|
|
NM_004360.5(CDH1):c.1619G>C (p.Gly540Ala)
|
|
|
NM_004360.5(CDH1):c.161G>A (p.Arg54Lys)
|
rs876658680
|
|
NM_004360.5(CDH1):c.1621G>A (p.Ala541Thr)
|
|
|
NM_004360.5(CDH1):c.1622C>T (p.Ala541Val)
|
rs730881668
|
|
NM_004360.5(CDH1):c.1624A>G (p.Ile542Val)
|
|
|
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met)
|
rs1961075798
|
|
NM_004360.5(CDH1):c.163+115A>T
|
|
|
NM_004360.5(CDH1):c.163+14G>A
|
|
|
NM_004360.5(CDH1):c.163+29142_164-30404del
|
|
|
NM_004360.5(CDH1):c.163+75A>T
|
|
|
NM_004360.5(CDH1):c.163+81G>A
|
|
|
NM_004360.5(CDH1):c.163+90T>G
|
|
|
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala)
|
rs786202107
|
|
NM_004360.5(CDH1):c.1631C>T (p.Thr544Ile)
|
rs2152136862
|
|
NM_004360.5(CDH1):c.1633C>G (p.Arg545Gly)
|
rs863224727
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
NM_004360.5(CDH1):c.1634G>C (p.Arg545Pro)
|
rs587780115
|
|
NM_004360.5(CDH1):c.1636G>A (p.Ala546Thr)
|
rs876658877
|
|
NM_004360.5(CDH1):c.1639G>A (p.Glu547Lys)
|
rs1961076622
|
|
NM_004360.5(CDH1):c.163G>A (p.Val55Met)
|
rs1597838766
|
|
NM_004360.5(CDH1):c.164-3C>T
|
rs2152126584
|
|
NM_004360.5(CDH1):c.164-6579_164-1957del
|
|
|
NM_004360.5(CDH1):c.164-8976_164-8973dup
|
|
|
NM_004360.5(CDH1):c.164-8_164-3del
|
|
|
NM_004360.5(CDH1):c.1640A>T (p.Glu547Val)
|
|
|
NM_004360.5(CDH1):c.1642C>G (p.Leu548Val)
|
rs1181682630
|
|
NM_004360.5(CDH1):c.1643T>G (p.Leu548Arg)
|
rs747801796
|
|
NM_004360.5(CDH1):c.1648A>G (p.Arg550Gly)
|
rs1596960520
|
|
NM_004360.5(CDH1):c.1649G>A (p.Arg550Lys)
|
rs771649648
|
|
NM_004360.5(CDH1):c.1649G>C (p.Arg550Thr)
|
rs771649648
|
|
NM_004360.5(CDH1):c.164T>C (p.Val55Ala)
|
rs587778174
|
|
NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln)
|
rs1596960532
|
|
NM_004360.5(CDH1):c.1658T>G (p.Phe553Cys)
|
rs1961077541
|
|
NM_004360.5(CDH1):c.1663C>G (p.His555Asp)
|
rs587782768
|
|
NM_004360.5(CDH1):c.1666G>C (p.Val556Leu)
|
rs876660399
|
|
NM_004360.5(CDH1):c.166A>G (p.Asn56Asp)
|
rs1060501227
|
|
NM_004360.5(CDH1):c.1670A>G (p.Lys557Arg)
|
rs1173188736
|
|
NM_004360.5(CDH1):c.1673A>T (p.Asn558Ile)
|
|
|
NM_004360.5(CDH1):c.1674C>G (p.Asn558Lys)
|
rs1961078305
|
|
NM_004360.5(CDH1):c.1675A>T (p.Ser559Cys)
|
rs1555516566
|
|
NM_004360.5(CDH1):c.1677C>G (p.Ser559Arg)
|
rs2152136962
|
|
NM_004360.5(CDH1):c.1679C>A (p.Thr560Lys)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
NM_004360.5(CDH1):c.1682A>G (p.Tyr561Cys)
|
rs918685758
|
|
NM_004360.5(CDH1):c.1684A>C (p.Thr562Pro)
|
rs587782061
|
|
NM_004360.5(CDH1):c.1685C>G (p.Thr562Arg)
|
rs587782381
|
|
NM_004360.5(CDH1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_004360.5(CDH1):c.1688C>G (p.Ala563Gly)
|
rs1596960694
|
|
NM_004360.5(CDH1):c.1690C>G (p.Leu564Val)
|
rs786201342
|
|
NM_004360.5(CDH1):c.1693A>G (p.Ile565Val)
|
rs1961080115
|
|
NM_004360.5(CDH1):c.1696A>G (p.Ile566Val)
|
rs775941240
|
|
NM_004360.5(CDH1):c.169T>G (p.Phe57Val)
|
rs2152126595
|
|
NM_004360.5(CDH1):c.16C>A (p.Arg6Ser)
|
rs2152113958
|
|
NM_004360.5(CDH1):c.1700C>T (p.Ala567Val)
|
rs886041160
|
|
NM_004360.5(CDH1):c.1702A>G (p.Thr568Ala)
|
rs1060501242
|
|
NM_004360.5(CDH1):c.1702A>T (p.Thr568Ser)
|
|
|
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)
|
rs786202712
|
|
NM_004360.5(CDH1):c.1703C>T (p.Thr568Ile)
|
rs786202712
|
|
NM_004360.5(CDH1):c.1707C>A (p.Asp569Glu)
|
rs876660905
|
|
NM_004360.5(CDH1):c.1708A>C (p.Asn570His)
|
rs1567510854
|
|
NM_004360.5(CDH1):c.1708A>G (p.Asn570Asp)
|
rs1567510854
|
|
NM_004360.5(CDH1):c.1709A>G (p.Asn570Ser)
|
rs1555516592
|
|
NM_004360.5(CDH1):c.1711+16C>G
|
rs2152137043
|
|
NM_004360.5(CDH1):c.1711+6G>A
|
rs1555516597
|
|
NM_004360.5(CDH1):c.1711G>T (p.Gly571Cys)
|
|
|
NM_004360.5(CDH1):c.1712-103A>G
|
|
|
NM_004360.5(CDH1):c.1712-127G>A
|
|
|
NM_004360.5(CDH1):c.1712-128C>T
|
|
|
NM_004360.5(CDH1):c.1712-151G>T
|
|
|
NM_004360.5(CDH1):c.1712-161G>A
|
|
|
NM_004360.5(CDH1):c.1712-168G>C
|
|
|
NM_004360.5(CDH1):c.1712-184A>G
|
|
|
NM_004360.5(CDH1):c.1712-2A>C
|
rs552325719
|
|
NM_004360.5(CDH1):c.1712-2A>T
|
rs552325719
|
|
NM_004360.5(CDH1):c.1712-54dup
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
NM_004360.5(CDH1):c.1718C>T (p.Pro573Leu)
|
rs1555516819
|
|
NM_004360.5(CDH1):c.1720G>A (p.Val574Ile)
|
rs115934514
|
|
NM_004360.5(CDH1):c.1720G>T (p.Val574Phe)
|
rs115934514
|
|
NM_004360.5(CDH1):c.1721T>C (p.Val574Ala)
|
|
|
NM_004360.5(CDH1):c.1721T>G (p.Val574Gly)
|
rs1567512117
|
|
NM_004360.5(CDH1):c.1726A>G (p.Thr576Ala)
|
rs759536558
|
|
NM_004360.5(CDH1):c.1726A>T (p.Thr576Ser)
|
rs759536558
|
|
NM_004360.5(CDH1):c.1729G>A (p.Gly577Arg)
|
|
|
NM_004360.5(CDH1):c.1732A>G (p.Thr578Ala)
|
rs1596963360
|
|
NM_004360.5(CDH1):c.1732A>T (p.Thr578Ser)
|
rs1596963360
|
|
NM_004360.5(CDH1):c.1733C>A (p.Thr578Lys)
|
rs1567512135
|
|
NM_004360.5(CDH1):c.1733C>G (p.Thr578Arg)
|
rs1567512135
|
|
NM_004360.5(CDH1):c.1733C>T (p.Thr578Ile)
|
rs1567512135
|
|
NM_004360.5(CDH1):c.1736G>A (p.Gly579Glu)
|
rs1596963374
|
|
NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala)
|
rs786204155
|
|
NM_004360.5(CDH1):c.1739C>A (p.Thr580Lys)
|
rs1961157345
|
|
NM_004360.5(CDH1):c.1739C>T (p.Thr580Ile)
|
rs1961157345
|
|
NM_004360.5(CDH1):c.173A>T (p.Glu58Val)
|
rs786202570
|
|
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe)
|
rs1567512154
|
|
NM_004360.5(CDH1):c.1744C>A (p.Leu582Met)
|
rs1801025
|
|
NM_004360.5(CDH1):c.1745T>A (p.Leu582Gln)
|
rs1596963398
|
|
NM_004360.5(CDH1):c.1748T>G (p.Leu583Arg)
|
|
|
NM_004360.5(CDH1):c.1751T>A (p.Ile584Asn)
|
rs2152138212
|
|
NM_004360.5(CDH1):c.1753C>G (p.Leu585Val)
|
|
|
NM_004360.5(CDH1):c.1754T>A (p.Leu585Gln)
|
rs1596963414
|
|
NM_004360.5(CDH1):c.1754T>C (p.Leu585Pro)
|
rs1596963414
|
|
NM_004360.5(CDH1):c.1756T>C (p.Ser586Pro)
|
|
|
NM_004360.5(CDH1):c.1757C>A (p.Ser586Tyr)
|
rs864622599
|
|
NM_004360.5(CDH1):c.1766A>G (p.Asn589Ser)
|
rs1367108095
|
|
NM_004360.5(CDH1):c.1767T>C (p.Asn589=)
|
rs763862527
|
|
NM_004360.5(CDH1):c.1771A>G (p.Asn591Asp)
|
rs751291956
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
NM_004360.5(CDH1):c.1775C>A (p.Ala592Asp)
|
rs786202059
|
|
NM_004360.5(CDH1):c.1775C>T (p.Ala592Val)
|
|
|
NM_004360.5(CDH1):c.1778C>G (p.Pro593Arg)
|
rs1567512288
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
|
NM_004360.5(CDH1):c.1780A>T (p.Ile594Leu)
|
rs1206609823
|
|
NM_004360.5(CDH1):c.1781T>C (p.Ile594Thr)
|
rs1961160711
|
|
NM_004360.5(CDH1):c.1784C>A (p.Pro595Gln)
|
|
|
NM_004360.5(CDH1):c.1784C>G (p.Pro595Arg)
|
rs1555516843
|
|
NM_004360.5(CDH1):c.1786G>A (p.Glu596Lys)
|
rs1555516844
|
|
NM_004360.5(CDH1):c.1786G>C (p.Glu596Gln)
|
rs1555516844
|
|
NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)
|
rs201625049
|
|
NM_004360.5(CDH1):c.1789C>T (p.Pro597Ser)
|
rs201625049
|
|
NM_004360.5(CDH1):c.1790C>T (p.Pro597Leu)
|
rs1961161092
|
|
NM_004360.5(CDH1):c.1792C>G (p.Arg598Gly)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1793G>C (p.Arg598Pro)
|
rs780759537
|
|
NM_004360.5(CDH1):c.1795A>G (p.Thr599Ala)
|
rs2152138313
|
|
NM_004360.5(CDH1):c.1796C>G (p.Thr599Ser)
|
rs377302798
|
|
NM_004360.5(CDH1):c.1798A>G (p.Ile600Val)
|
rs1961161775
|
|
NM_004360.5(CDH1):c.179G>C (p.Cys60Ser)
|
rs1960504905
|
|
NM_004360.5(CDH1):c.17G>T (p.Arg6Leu)
|
rs746464544
|
|
NM_004360.5(CDH1):c.1800A>G (p.Ile600Met)
|
rs878854680
|
|
NM_004360.5(CDH1):c.1802TCT[1] (p.Phe602del)
|
rs587782517
|
|
NM_004360.5(CDH1):c.1803C>A (p.Phe601Leu)
|
rs1799444860
|
|
NM_004360.5(CDH1):c.1805T>C (p.Phe602Ser)
|
|
|
NM_004360.5(CDH1):c.1808G>A (p.Cys603Tyr)
|
rs864622612
|
|
NM_004360.5(CDH1):c.1808G>C (p.Cys603Ser)
|
rs864622612
|
|
NM_004360.5(CDH1):c.1813A>G (p.Arg605Gly)
|
rs2152138356
|
|
NM_004360.5(CDH1):c.1817A>G (p.Asn606Ser)
|
rs1961162483
|
|
NM_004360.5(CDH1):c.1819C>A (p.Pro607Thr)
|
|
|
NM_004360.5(CDH1):c.181A>G (p.Thr61Ala)
|
|
|
NM_004360.5(CDH1):c.1820C>G (p.Pro607Arg)
|
rs2152138374
|
|
NM_004360.5(CDH1):c.1821_1847del (p.Lys608_Asp616del)
|
|
|
NM_004360.5(CDH1):c.1822A>G (p.Lys608Glu)
|
|
|
NM_004360.5(CDH1):c.1825C>T (p.Pro609Ser)
|
rs1567512385
|
|
NM_004360.5(CDH1):c.1826C>T (p.Pro609Leu)
|
rs1596963588
|
|
NM_004360.5(CDH1):c.1828C>G (p.Gln610Glu)
|
rs2152138392
|
|
NM_004360.5(CDH1):c.1829A>C (p.Gln610Pro)
|
rs1555516856
|
|
NM_004360.5(CDH1):c.182C>T (p.Thr61Ile)
|
rs1597884542
|
|
NM_004360.5(CDH1):c.1832T>A (p.Val611Asp)
|
rs779351070
|
|
NM_004360.5(CDH1):c.1834A>G (p.Ile612Val)
|
rs786202965
|
|
NM_004360.5(CDH1):c.1838A>G (p.Asn613Ser)
|
rs1555516860
|
|
NM_004360.5(CDH1):c.1839CAT[1] (p.Ile615del)
|
rs1961163478
|
|
NM_004360.5(CDH1):c.1840A>G (p.Ile614Val)
|
rs587782838
|
|
NM_004360.5(CDH1):c.1840A>T (p.Ile614Phe)
|
|
|
NM_004360.5(CDH1):c.1841T>A (p.Ile614Asn)
|
rs1961163698
|
|
NM_004360.5(CDH1):c.1843A>T (p.Ile615Phe)
|
rs1003012321
|
|
NM_004360.5(CDH1):c.1849G>T (p.Ala617Ser)
|
rs33935154
|
|
NM_004360.5(CDH1):c.1849_1850delinsAG (p.Ala617Arg)
|
rs2152138443
|
|
NM_004360.5(CDH1):c.184G>C (p.Gly62Arg)
|
rs587781898
|
|
NM_004360.5(CDH1):c.1850C>G (p.Ala617Gly)
|
rs1596963675
|
|
NM_004360.5(CDH1):c.1850C>T (p.Ala617Val)
|
rs1596963675
|
|
NM_004360.5(CDH1):c.1855C>A (p.Leu619Ile)
|
rs876659221
|
|
NM_004360.5(CDH1):c.1858C>A (p.Pro620Thr)
|
rs786201888
|
|
NM_004360.5(CDH1):c.1858C>G (p.Pro620Ala)
|
|
|
NM_004360.5(CDH1):c.1859C>T (p.Pro620Leu)
|
rs1555516871
|
|
NM_004360.5(CDH1):c.185G>A (p.Gly62Asp)
|
rs786203727
|
|
NM_004360.5(CDH1):c.1861C>G (p.Pro621Ala)
|
|
|
NM_004360.5(CDH1):c.1861C>T (p.Pro621Ser)
|
rs1961165024
|
|
NM_004360.5(CDH1):c.1864A>C (p.Asn622His)
|
rs367849039
|
|
NM_004360.5(CDH1):c.1864A>G (p.Asn622Asp)
|
|
|
NM_004360.5(CDH1):c.1864A>T (p.Asn622Tyr)
|
rs367849039
|
|
NM_004360.5(CDH1):c.1866T>G (p.Asn622Lys)
|
rs786201678
|
|
NM_004360.5(CDH1):c.1867A>G (p.Thr623Ala)
|
rs1596963727
|
|
NM_004360.5(CDH1):c.1867A>T (p.Thr623Ser)
|
rs1596963727
|
|
NM_004360.5(CDH1):c.1868C>T (p.Thr623Ile)
|
rs1961165592
|
|
NM_004360.5(CDH1):c.1871C>T (p.Ser624Phe)
|
rs1961166045
|
|
NM_004360.5(CDH1):c.1874C>T (p.Pro625Leu)
|
rs1961166603
|
|
NM_004360.5(CDH1):c.1876T>G (p.Phe626Val)
|
rs876660603
|
|
NM_004360.5(CDH1):c.187C>G (p.Arg63Gly)
|
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
NM_004360.5(CDH1):c.188G>C (p.Arg63Pro)
|
|
|
NM_004360.5(CDH1):c.1894C>T (p.His632Tyr)
|
rs1961168795
|
|
NM_004360.5(CDH1):c.1895A>G (p.His632Arg)
|
rs1555516892
|
|
NM_004360.5(CDH1):c.1895A>T (p.His632Leu)
|
|
|
NM_004360.5(CDH1):c.1896C>G (p.His632Gln)
|
rs33969373
|
|
NM_004360.5(CDH1):c.1898G>A (p.Gly633Glu)
|
rs587782850
|
|
NM_004360.5(CDH1):c.1900G>T (p.Ala634Ser)
|
rs1060501240
|
|
NM_004360.5(CDH1):c.1901C>A (p.Ala634Glu)
|
|
|
NM_004360.5(CDH1):c.1907C>T (p.Ala636Val)
|
rs1555516894
|
|
NM_004360.5(CDH1):c.1910A>G (p.Asn637Ser)
|
|
|
NM_004360.5(CDH1):c.1914G>C (p.Trp638Cys)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1915A>G (p.Thr639Ala)
|
rs1555516895
|
|
NM_004360.5(CDH1):c.1916C>T (p.Thr639Ile)
|
rs1961171304
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
NM_004360.5(CDH1):c.1918A>G (p.Ile640Val)
|
|
|
NM_004360.5(CDH1):c.1922A>G (p.Gln641Arg)
|
rs876660113
|
|
NM_004360.5(CDH1):c.1925A>T (p.Tyr642Phe)
|
rs2152138609
|
|
NM_004360.5(CDH1):c.1927A>C (p.Asn643His)
|
rs587781540
|
|
NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp)
|
rs587781540
|
|
NM_004360.5(CDH1):c.1928A>G (p.Asn643Ser)
|
rs1567512606
|
|
NM_004360.5(CDH1):c.1929C>A (p.Asn643Lys)
|
rs374152504
|
|
NM_004360.5(CDH1):c.1930G>C (p.Asp644His)
|
|
|
NM_004360.5(CDH1):c.1932C>A (p.Asp644Glu)
|
rs1596963973
|
|
NM_004360.5(CDH1):c.1935A>G (p.Pro645=)
|
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
NM_004360.5(CDH1):c.1936+5G>C
|
rs1567512631
|
|
NM_004360.5(CDH1):c.1936+5del
|
rs1596963998
|
|
NM_004360.5(CDH1):c.1936+9C>G
|
|
|
NM_004360.5(CDH1):c.1937-111C>A
|
|
|
NM_004360.5(CDH1):c.1937-29T>C
|
|
|
NM_004360.5(CDH1):c.1937-37C>G
|
|
|
NM_004360.5(CDH1):c.1937-3C>T
|
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
NM_004360.5(CDH1):c.1937C>G (p.Thr646Ser)
|
rs1331707958
|
|
NM_004360.5(CDH1):c.1937C>T (p.Thr646Ile)
|
rs1331707958
|
|
NM_004360.5(CDH1):c.1939C>G (p.Gln647Glu)
|
|
|
NM_004360.5(CDH1):c.1942G>A (p.Glu648Lys)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1944A>T (p.Glu648Asp)
|
rs1596965497
|
|
NM_004360.5(CDH1):c.1948A>G (p.Ile650Val)
|
rs1555517077
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
NM_004360.5(CDH1):c.1951A>G (p.Ile651Val)
|
rs876660503
|
|
NM_004360.5(CDH1):c.1951A>T (p.Ile651Phe)
|
rs876660503
|
|
NM_004360.5(CDH1):c.1952T>C (p.Ile651Thr)
|
rs1555517080
|
|
NM_004360.5(CDH1):c.1955T>C (p.Leu652Ser)
|
rs1567513174
|
|
NM_004360.5(CDH1):c.1955T>G (p.Leu652Trp)
|
rs1567513174
|
|
NM_004360.5(CDH1):c.1956G>C (p.Leu652Phe)
|
|
|
NM_004360.5(CDH1):c.1956G>T (p.Leu652Phe)
|
|
|
NM_004360.5(CDH1):c.1958A>C (p.Lys653Thr)
|
rs1555517084
|
|
NM_004360.5(CDH1):c.1958A>G (p.Lys653Arg)
|
rs1555517084
|
|
NM_004360.5(CDH1):c.1959G>T (p.Lys653Asn)
|
rs1596965552
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
NM_004360.5(CDH1):c.1963A>G (p.Lys655Glu)
|
rs2152139278
|
|
NM_004360.5(CDH1):c.1965G>C (p.Lys655Asn)
|
rs1961225123
|
|
NM_004360.5(CDH1):c.1966A>G (p.Met656Val)
|
|
|
NM_004360.5(CDH1):c.1969G>T (p.Ala657Ser)
|
rs1961225323
|
|
NM_004360.5(CDH1):c.196A>G (p.Thr66Ala)
|
rs2152126653
|
|
NM_004360.5(CDH1):c.1976A>G (p.Glu659Gly)
|
rs1961225880
|
|
NM_004360.5(CDH1):c.1976_1978del (p.Glu659del)
|
|
|
NM_004360.5(CDH1):c.1978G>A (p.Val660Met)
|
rs769844369
|
|
NM_004360.5(CDH1):c.1979T>A (p.Val660Glu)
|
rs1555517090
|
|
NM_004360.5(CDH1):c.1979T>C (p.Val660Ala)
|
rs1555517090
|
|
NM_004360.5(CDH1):c.1982G>A (p.Gly661Asp)
|
rs756092625
|
|
NM_004360.5(CDH1):c.1984G>A (p.Asp662Asn)
|
rs1596965647
|
|
NM_004360.5(CDH1):c.1984G>T (p.Asp662Tyr)
|
rs1596965647
|
|
NM_004360.5(CDH1):c.1985A>G (p.Asp662Gly)
|
|
|
NM_004360.5(CDH1):c.1985A>T (p.Asp662Val)
|
rs1961226929
|
|
NM_004360.5(CDH1):c.1990A>C (p.Lys664Gln)
|
rs1275496047
|
|
NM_004360.5(CDH1):c.1991A>G (p.Lys664Arg)
|
rs1436479908
|
|
NM_004360.5(CDH1):c.1993A>G (p.Ile665Val)
|
rs864622503
|
|
NM_004360.5(CDH1):c.1997A>G (p.Asn666Ser)
|
|
|
NM_004360.5(CDH1):c.1998T>A (p.Asn666Lys)
|
rs1167042883
|
|
NM_004360.5(CDH1):c.1999C>A (p.Leu667Ile)
|
rs1567513251
|
|
NM_004360.5(CDH1):c.1999C>T (p.Leu667Phe)
|
rs1567513251
|
|
NM_004360.5(CDH1):c.19A>G (p.Ser7Gly)
|
|
|
NM_004360.5(CDH1):c.2003A>G (p.Lys668Arg)
|
|
|
NM_004360.5(CDH1):c.2005C>A (p.Leu669Ile)
|
rs1490366214
|
|
NM_004360.5(CDH1):c.2005C>G (p.Leu669Val)
|
rs1490366214
|
|
NM_004360.5(CDH1):c.2005C>T (p.Leu669Phe)
|
rs1490366214
|
|
NM_004360.5(CDH1):c.2008A>G (p.Met670Val)
|
rs876660107
|
|
NM_004360.5(CDH1):c.2008A>T (p.Met670Leu)
|
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
NM_004360.5(CDH1):c.2010G>A (p.Met670Ile)
|
rs2152139379
|
|
NM_004360.5(CDH1):c.2015A>G (p.Asn672Ser)
|
rs2152139391
|
|
NM_004360.5(CDH1):c.2019G>C (p.Gln673His)
|
rs1596965752
|
|
NM_004360.5(CDH1):c.2023A>G (p.Lys675Glu)
|
|
|
NM_004360.5(CDH1):c.2024A>G (p.Lys675Arg)
|
rs876660230
|
|
NM_004360.5(CDH1):c.2026G>T (p.Asp676Tyr)
|
rs115408226
|
|
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)
|
rs1555517099
|
|
NM_004360.5(CDH1):c.202T>C (p.Tyr68His)
|
rs1060501218
|
|
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)
|
rs1060501218
|
|
NM_004360.5(CDH1):c.2032G>A (p.Val678Met)
|
rs764788846
|
|
NM_004360.5(CDH1):c.2035A>G (p.Thr679Ala)
|
|
|
NM_004360.5(CDH1):c.2036C>A (p.Thr679Asn)
|
rs1961229985
|
|
NM_004360.5(CDH1):c.2036C>G (p.Thr679Ser)
|
|
|
NM_004360.5(CDH1):c.2038A>G (p.Thr680Ala)
|
rs876658936
|
|
NM_004360.5(CDH1):c.2039C>T (p.Thr680Ile)
|
|
|
NM_004360.5(CDH1):c.2046G>T (p.Glu682Asp)
|
rs753209043
|
|
NM_004360.5(CDH1):c.2047G>T (p.Val683Phe)
|
rs758872535
|
|
NM_004360.5(CDH1):c.2051G>A (p.Ser684Asn)
|
|
|
NM_004360.5(CDH1):c.2053G>C (p.Val685Leu)
|
rs550612843
|
|
NM_004360.5(CDH1):c.2056T>C (p.Cys686Arg)
|
|
|
NM_004360.5(CDH1):c.2068G>A (p.Gly690Arg)
|
|
|
NM_004360.5(CDH1):c.2069G>A (p.Gly690Glu)
|
rs1272471005
|
|
NM_004360.5(CDH1):c.2072C>T (p.Ala691Val)
|
rs569086883
|
|
NM_004360.5(CDH1):c.2075C>T (p.Ala692Val)
|
rs1961232395
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
NM_004360.5(CDH1):c.2084G>A (p.Cys695Tyr)
|
rs1961233403
|
|
NM_004360.5(CDH1):c.2084G>T (p.Cys695Phe)
|
|
|
NM_004360.5(CDH1):c.2086A>G (p.Arg696Gly)
|
|
|
NM_004360.5(CDH1):c.2087G>A (p.Arg696Lys)
|
rs1596965963
|
|
NM_004360.5(CDH1):c.2088G>T (p.Arg696Ser)
|
|
|
NM_004360.5(CDH1):c.2089A>G (p.Lys697Glu)
|
rs1555517126
|
|
NM_004360.5(CDH1):c.208T>A (p.Ser70Thr)
|
rs587781862
|
|
NM_004360.5(CDH1):c.208T>C (p.Ser70Pro)
|
rs587781862
|
|
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg)
|
rs1961233865
|
|
NM_004360.5(CDH1):c.2092G>T (p.Ala698Ser)
|
rs1167040681
|
|
NM_004360.5(CDH1):c.2093C>T (p.Ala698Val)
|
rs1064795359
|
|
NM_004360.5(CDH1):c.2097G>T (p.Gln699His)
|
rs2152139545
|
|
NM_004360.5(CDH1):c.2098C>G (p.Pro700Ala)
|
rs878854681
|
|
NM_004360.5(CDH1):c.209C>A (p.Ser70Tyr)
|
|
|
NM_004360.5(CDH1):c.2101G>A (p.Val701Ile)
|
rs1426734014
|
|
NM_004360.5(CDH1):c.2104G>C (p.Glu702Gln)
|
rs149127230
|
|
NM_004360.5(CDH1):c.2108C>G (p.Ala703Gly)
|
|
|
NM_004360.5(CDH1):c.2110G>A (p.Gly704Arg)
|
rs1567513430
|
|
NM_004360.5(CDH1):c.2110G>C (p.Gly704Arg)
|
rs1567513430
|
|
NM_004360.5(CDH1):c.2111G>A (p.Gly704Glu)
|
rs2152139577
|
|
NM_004360.5(CDH1):c.2111G>T (p.Gly704Val)
|
rs2152139577
|
|
NM_004360.5(CDH1):c.2115G>T (p.Leu705Phe)
|
rs759256066
|
|
NM_004360.5(CDH1):c.2117A>G (p.Gln706Arg)
|
rs587781401
|
|
NM_004360.5(CDH1):c.211C>A (p.Leu71Ile)
|
rs1555514408
|
|
NM_004360.5(CDH1):c.211C>T (p.Leu71Phe)
|
rs1555514408
|
|
NM_004360.5(CDH1):c.2122C>A (p.Pro708Thr)
|
rs1060501233
|
|
NM_004360.5(CDH1):c.2122C>T (p.Pro708Ser)
|
rs1060501233
|
|
NM_004360.5(CDH1):c.2123C>T (p.Pro708Leu)
|
|
|
NM_004360.5(CDH1):c.2125G>T (p.Ala709Ser)
|
|
|
NM_004360.5(CDH1):c.2126C>T (p.Ala709Val)
|
rs2152139610
|
|
NM_004360.5(CDH1):c.2128A>C (p.Ile710Leu)
|
rs876660625
|
|
NM_004360.5(CDH1):c.2130T>G (p.Ile710Met)
|
rs1961236313
|
|
NM_004360.5(CDH1):c.2132T>C (p.Leu711Pro)
|
|
|
NM_004360.5(CDH1):c.2133G>A (p.Leu711=)
|
rs2152139627
|
|
NM_004360.5(CDH1):c.2137A>T (p.Ile713Phe)
|
rs1289236005
|
|
NM_004360.5(CDH1):c.2138T>C (p.Ile713Thr)
|
rs1567513466
|
|
NM_004360.5(CDH1):c.2139_2140inv (p.Ile713_Leu714delinsMetIle)
|
|
|
NM_004360.5(CDH1):c.2141T>A (p.Leu714His)
|
|
|
NM_004360.5(CDH1):c.2141T>C (p.Leu714Pro)
|
rs2152139650
|
|
NM_004360.5(CDH1):c.214G>C (p.Asp72His)
|
rs35606263
|
|
NM_004360.5(CDH1):c.2150T>C (p.Ile717Thr)
|
rs1596966137
|
|
NM_004360.5(CDH1):c.2152C>A (p.Leu718Ile)
|
rs876658591
|
|
NM_004360.5(CDH1):c.215A>T (p.Asp72Val)
|
|
|
NM_004360.5(CDH1):c.2160G>T (p.Leu720Phe)
|
|
|
NM_004360.5(CDH1):c.2163A>G (p.Leu721=)
|
rs767867011
|
|
NM_004360.5(CDH1):c.2164+15C>T
|
rs777904889
|
|
NM_004360.5(CDH1):c.2164+3_2164+6del
|
rs1415253676
|
|
NM_004360.5(CDH1):c.2164+4A>C
|
rs1961238672
|
|
NM_004360.5(CDH1):c.2164A>C (p.Ile722Leu)
|
rs1596966182
|
|
NM_004360.5(CDH1):c.2165-111G>C
|
|
|
NM_004360.5(CDH1):c.2165-59C>T
|
|
|
NM_004360.5(CDH1):c.2165-5C>T
|
rs1567515317
|
|
NM_004360.5(CDH1):c.2165-9C>G
|
|
|
NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)
|
rs878854682
|
|
NM_004360.5(CDH1):c.2168T>C (p.Leu723Pro)
|
|
|
NM_004360.5(CDH1):c.2174T>G (p.Leu725Arg)
|
rs2152141384
|
|
NM_004360.5(CDH1):c.2184G>T (p.Leu728Phe)
|
rs1961373863
|
|
NM_004360.5(CDH1):c.2185C>A (p.Leu729Met)
|
rs2152141393
|
|
NM_004360.5(CDH1):c.2185C>G (p.Leu729Val)
|
|
|
NM_004360.5(CDH1):c.2185C>T (p.Leu729=)
|
|
|
NM_004360.5(CDH1):c.2186T>C (p.Leu729Pro)
|
rs1567515336
|
|
NM_004360.5(CDH1):c.218C>A (p.Thr73Asn)
|
rs1555514410
|
|
NM_004360.5(CDH1):c.218C>G (p.Thr73Ser)
|
|
|
NM_004360.5(CDH1):c.2191C>T (p.Leu731Phe)
|
rs1060501235
|
|
NM_004360.5(CDH1):c.2194C>G (p.Arg732Gly)
|
|
|
NM_004360.5(CDH1):c.2198G>A (p.Arg733Lys)
|
rs2152141417
|
|
NM_004360.5(CDH1):c.2199G>T (p.Arg733Ser)
|
rs1555517637
|
|
NM_004360.5(CDH1):c.2201G>A (p.Arg734Lys)
|
rs587781859
|
|
NM_004360.5(CDH1):c.2201G>T (p.Arg734Ile)
|
rs587781859
|
|
NM_004360.5(CDH1):c.2203G>A (p.Ala735Thr)
|
|
|
NM_004360.5(CDH1):c.2204C>A (p.Ala735Glu)
|
rs587782464
|
|
NM_004360.5(CDH1):c.2204C>G (p.Ala735Gly)
|
rs587782464
|
|
NM_004360.5(CDH1):c.2205G>A (p.Ala735=)
|
rs138493551
|
|
NM_004360.5(CDH1):c.2206G>A (p.Val736Met)
|
|
|
NM_004360.5(CDH1):c.2207T>C (p.Val736Ala)
|
rs1596970752
|
|
NM_004360.5(CDH1):c.2213A>G (p.Lys738Arg)
|
rs768163102
|
|
NM_004360.5(CDH1):c.2215G>A (p.Glu739Lys)
|
|
|
NM_004360.5(CDH1):c.2216A>G (p.Glu739Gly)
|
rs1555517647
|
|
NM_004360.5(CDH1):c.2216A>T (p.Glu739Val)
|
rs1555517647
|
|
NM_004360.5(CDH1):c.2218C>A (p.Pro740Thr)
|
rs773795943
|
|
NM_004360.5(CDH1):c.2218C>G (p.Pro740Ala)
|
rs773795943
|
|
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser)
|
rs773795943
|
|
NM_004360.5(CDH1):c.221G>C (p.Arg74Pro)
|
rs761562625
|
|
NM_004360.5(CDH1):c.221G>T (p.Arg74Leu)
|
rs761562625
|
|
NM_004360.5(CDH1):c.2224C>G (p.Leu742Val)
|
|
|
NM_004360.5(CDH1):c.2225T>G (p.Leu742Arg)
|
rs1961377163
|
|
NM_004360.5(CDH1):c.2227C>A (p.Pro743Thr)
|
rs786203005
|
|
NM_004360.5(CDH1):c.2227C>G (p.Pro743Ala)
|
rs786203005
|
|
NM_004360.5(CDH1):c.2227C>T (p.Pro743Ser)
|
rs786203005
|
|
NM_004360.5(CDH1):c.2230C>A (p.Pro744Thr)
|
rs761146693
|
|
NM_004360.5(CDH1):c.2230C>T (p.Pro744Ser)
|
|
|
NM_004360.5(CDH1):c.2231C>G (p.Pro744Arg)
|
rs1001200905
|
|
NM_004360.5(CDH1):c.2231C>T (p.Pro744Leu)
|
rs1001200905
|
|
NM_004360.5(CDH1):c.2233G>A (p.Glu745Lys)
|
rs1596970862
|
|
NM_004360.5(CDH1):c.2235G>T (p.Glu745Asp)
|
rs1267384637
|
|
NM_004360.5(CDH1):c.2236G>A (p.Asp746Asn)
|
rs766636655
|
|
NM_004360.5(CDH1):c.2237A>G (p.Asp746Gly)
|
rs1408841952
|
|
NM_004360.5(CDH1):c.223T>C (p.Phe75Leu)
|
rs587782193
|
|
NM_004360.5(CDH1):c.2240A>G (p.Asp747Gly)
|
rs1060501222
|
|
NM_004360.5(CDH1):c.2241C>A (p.Asp747Glu)
|
rs1961378823
|
|
NM_004360.5(CDH1):c.2243C>A (p.Thr748Asn)
|
rs1555517660
|
|
NM_004360.5(CDH1):c.2243C>G (p.Thr748Ser)
|
rs1555517660
|
|
NM_004360.5(CDH1):c.2243C>T (p.Thr748Ile)
|
rs1555517660
|
|
NM_004360.5(CDH1):c.2245C>G (p.Arg749Gly)
|
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004360.5(CDH1):c.2248G>A (p.Asp750Asn)
|
rs1567515435
|
|
NM_004360.5(CDH1):c.2251_2253del (p.Asn751del)
|
rs2152141513
|
|
NM_004360.5(CDH1):c.2253C>G (p.Asn751Lys)
|
rs33964119
|
|
NM_004360.5(CDH1):c.2258A>G (p.Tyr753Cys)
|
rs1596970973
|
|
NM_004360.5(CDH1):c.2263T>C (p.Tyr755His)
|
rs1961380635
|
|
NM_004360.5(CDH1):c.2266G>C (p.Asp756His)
|
rs1555517677
|
|
NM_004360.5(CDH1):c.2266G>T (p.Asp756Tyr)
|
|
|
NM_004360.5(CDH1):c.2267A>G (p.Asp756Gly)
|
rs2152141545
|
|
NM_004360.5(CDH1):c.2268T>A (p.Asp756Glu)
|
rs1567515480
|
|
NM_004360.5(CDH1):c.2269G>A (p.Glu757Lys)
|
rs1064794232
|
|
NM_004360.5(CDH1):c.2270AAG[1] (p.Glu758del)
|
rs876661070
|
|
NM_004360.5(CDH1):c.2273A>G (p.Glu758Gly)
|
rs2152141559
|
|
NM_004360.5(CDH1):c.2274_2288del (p.Gly759_Glu763del)
|
rs2152141551
|
|
NM_004360.5(CDH1):c.2278G>A (p.Gly760Ser)
|
rs1961382208
|
|
NM_004360.5(CDH1):c.227A>G (p.Lys76Arg)
|
rs1597884664
|
|
NM_004360.5(CDH1):c.2281G>C (p.Gly761Arg)
|
|
|
NM_004360.5(CDH1):c.2282G>A (p.Gly761Glu)
|
rs876659664
|
|
NM_004360.5(CDH1):c.2282G>C (p.Gly761Ala)
|
rs876659664
|
|
NM_004360.5(CDH1):c.2282G>T (p.Gly761Val)
|
rs876659664
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
NM_004360.5(CDH1):c.2284G>A (p.Glu762Lys)
|
|
|
NM_004360.5(CDH1):c.2285A>T (p.Glu762Val)
|
|
|
NM_004360.5(CDH1):c.2286A>G (p.Glu762=)
|
rs1555517684
|
|
NM_004360.5(CDH1):c.2291A>G (p.Asp764Gly)
|
rs1555517687
|
|
NM_004360.5(CDH1):c.2291A>T (p.Asp764Val)
|
rs1555517687
|
|
NM_004360.5(CDH1):c.2292C>A (p.Asp764Glu)
|
rs61747636
|
|
NM_004360.5(CDH1):c.2294A>T (p.Gln765Leu)
|
|
|
NM_004360.5(CDH1):c.2295+3G>A
|
rs786203544
|
|
NM_004360.5(CDH1):c.2295+45C>T
|
|
|
NM_004360.5(CDH1):c.2295+46G>A
|
|
|
NM_004360.5(CDH1):c.2295+4G>A
|
rs1961384041
|
|
NM_004360.5(CDH1):c.2295+4_2439+1343del
|
|
|
NM_004360.5(CDH1):c.2295+5G>A
|
|
|
NM_004360.5(CDH1):c.2295+6T>C
|
rs1961384148
|
|
NM_004360.5(CDH1):c.2295G>A (p.Gln765=)
|
rs1961383748
|
|
NM_004360.5(CDH1):c.2296-16_2296-4del
|
rs2152142187
|
|
NM_004360.5(CDH1):c.2296-17A>G
|
rs2152142185
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2296-3A>T
|
rs113067020
|
|
NM_004360.5(CDH1):c.2296-41T>C
|
|
|
NM_004360.5(CDH1):c.2296-42C>G
|
|
|
NM_004360.5(CDH1):c.2296-60C>A
|
|
|
NM_004360.5(CDH1):c.2296G>C (p.Asp766His)
|
rs1471460728
|
|
NM_004360.5(CDH1):c.2296G>T (p.Asp766Tyr)
|
rs1471460728
|
|
NM_004360.5(CDH1):c.2299T>A (p.Phe767Ile)
|
rs2152142212
|
|
NM_004360.5(CDH1):c.229G>A (p.Val77Met)
|
rs1597884672
|
|
NM_004360.5(CDH1):c.22C>T (p.Leu8Phe)
|
rs1234138761
|
|
NM_004360.5(CDH1):c.2305T>G (p.Leu769Val)
|
rs766222121
|
|
NM_004360.5(CDH1):c.2307G>C (p.Leu769Phe)
|
rs1596972367
|
|
NM_004360.5(CDH1):c.2308A>G (p.Ser770Gly)
|
rs1961424317
|
|
NM_004360.5(CDH1):c.2309G>A (p.Ser770Asn)
|
|
|
NM_004360.5(CDH1):c.230T>C (p.Val77Ala)
|
rs2152126731
|
|
NM_004360.5(CDH1):c.2312A>G (p.Gln771Arg)
|
rs1182000968
|
|
NM_004360.5(CDH1):c.2313G>T (p.Gln771His)
|
|
|
NM_004360.5(CDH1):c.2315T>A (p.Leu772Gln)
|
|
|
NM_004360.5(CDH1):c.2315T>C (p.Leu772Pro)
|
rs1596972390
|
|
NM_004360.5(CDH1):c.2317C>T (p.His773Tyr)
|
rs1555517823
|
|
NM_004360.5(CDH1):c.231G>A (p.Val77=)
|
rs1446769308
|
|
NM_004360.5(CDH1):c.2321G>A (p.Arg774Lys)
|
rs1596972434
|
|
NM_004360.5(CDH1):c.2323G>A (p.Gly775Ser)
|
rs1163417116
|
|
NM_004360.5(CDH1):c.2324G>T (p.Gly775Val)
|
rs778581202
|
|
NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)
|
rs2152142271
|
|
NM_004360.5(CDH1):c.232G>A (p.Gly78Ser)
|
rs864622477
|
|
NM_004360.5(CDH1):c.2330A>T (p.Asp777Val)
|
rs1961426295
|
|
NM_004360.5(CDH1):c.2331C>A (p.Asp777Glu)
|
|
|
NM_004360.5(CDH1):c.2331C>G (p.Asp777Glu)
|
rs114265540
|
|
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val)
|
rs876659951
|
|
NM_004360.5(CDH1):c.2336G>C (p.Arg779Pro)
|
rs587781311
|
|
NM_004360.5(CDH1):c.2339C>T (p.Pro780Leu)
|
rs1555517841
|
|
NM_004360.5(CDH1):c.233G>C (p.Gly78Ala)
|
rs587781404
|
|
NM_004360.5(CDH1):c.233G>T (p.Gly78Val)
|
rs587781404
|
|
NM_004360.5(CDH1):c.2344G>A (p.Val782Met)
|
rs2152142305
|
|
NM_004360.5(CDH1):c.2345T>C (p.Val782Ala)
|
rs746274636
|
|
NM_004360.5(CDH1):c.2347A>G (p.Thr783Ala)
|
rs2152142308
|
|
NM_004360.5(CDH1):c.2350C>G (p.Arg784Gly)
|
|
|
NM_004360.5(CDH1):c.2351G>C (p.Arg784Pro)
|
rs763203357
|
|
NM_004360.5(CDH1):c.2351G>T (p.Arg784Leu)
|
|
|
NM_004360.5(CDH1):c.2354A>G (p.Asn785Ser)
|
rs2152142322
|
|
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn)
|
rs876659218
|
|
NM_004360.5(CDH1):c.2357A>G (p.Asp786Gly)
|
rs1961428463
|
|
NM_004360.5(CDH1):c.2358C>A (p.Asp786Glu)
|
|
|
NM_004360.5(CDH1):c.2359G>T (p.Val787Phe)
|
rs766270336
|
|
NM_004360.5(CDH1):c.235A>G (p.Thr79Ala)
|
rs745327620
|
|
NM_004360.5(CDH1):c.2365C>G (p.Pro789Ala)
|
rs1961429193
|
|
NM_004360.5(CDH1):c.2365C>T (p.Pro789Ser)
|
rs1961429193
|
|
NM_004360.5(CDH1):c.2366C>T (p.Pro789Leu)
|
rs1567516121
|
|
NM_004360.5(CDH1):c.2368A>G (p.Thr790Ala)
|
rs1596972607
|
|
NM_004360.5(CDH1):c.2374A>C (p.Met792Leu)
|
rs759380419
|
|
NM_004360.5(CDH1):c.2374A>G (p.Met792Val)
|
rs759380419
|
|
NM_004360.5(CDH1):c.2375T>C (p.Met792Thr)
|
rs752349229
|
|
NM_004360.5(CDH1):c.2376G>C (p.Met792Ile)
|
rs1596972662
|
|
NM_004360.5(CDH1):c.2377A>G (p.Ser793Gly)
|
rs2152142360
|
|
NM_004360.5(CDH1):c.2378G>A (p.Ser793Asn)
|
|
|
NM_004360.5(CDH1):c.2381T>C (p.Val794Ala)
|
rs1447544874
|
|
NM_004360.5(CDH1):c.2384C>G (p.Pro795Arg)
|
rs1555517888
|
|
NM_004360.5(CDH1):c.2384C>T (p.Pro795Leu)
|
rs1555517888
|
|
NM_004360.5(CDH1):c.2386C>A (p.Arg796=)
|
rs777363517
|
|
NM_004360.5(CDH1):c.238G>C (p.Asp80His)
|
rs1555514423
|
|
NM_004360.5(CDH1):c.2390A>G (p.Tyr797Cys)
|
rs587782394
|
|
NM_004360.5(CDH1):c.2392C>T (p.Leu798Phe)
|
|
|
NM_004360.5(CDH1):c.2393T>C (p.Leu798Pro)
|
rs2152142399
|
|
NM_004360.5(CDH1):c.2395C>A (p.Pro799Thr)
|
|
|
NM_004360.5(CDH1):c.2395C>T (p.Pro799Ser)
|
rs1596972749
|
|
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)
|
rs587781335
|
|
NM_004360.5(CDH1):c.2399G>T (p.Arg800Leu)
|
rs370345996
|
|
NM_004360.5(CDH1):c.239A>T (p.Asp80Val)
|
rs2152126752
|
|
NM_004360.5(CDH1):c.2401C>G (p.Pro801Ala)
|
rs876660704
|
|
NM_004360.5(CDH1):c.2404G>A (p.Ala802Thr)
|
rs2152142424
|
|
NM_004360.5(CDH1):c.2405C>A (p.Ala802Asp)
|
rs1596972797
|
|
NM_004360.5(CDH1):c.2405C>G (p.Ala802Gly)
|
rs1596972797
|
|
NM_004360.5(CDH1):c.2407A>G (p.Asn803Asp)
|
rs780510260
|
|
NM_004360.5(CDH1):c.2408A>G (p.Asn803Ser)
|
|
|
NM_004360.5(CDH1):c.2411C>A (p.Pro804His)
|
rs1596972823
|
|
NM_004360.5(CDH1):c.2413G>C (p.Asp805His)
|
rs200894246
|
|
NM_004360.5(CDH1):c.2413_2414delinsAG (p.Asp805Ser)
|
rs1961433417
|
|
NM_004360.5(CDH1):c.2414A>T (p.Asp805Val)
|
rs1481419710
|
|
NM_004360.5(CDH1):c.2415T>G (p.Asp805Glu)
|
rs2152142443
|
|
NM_004360.5(CDH1):c.2417A>G (p.Glu806Gly)
|
rs2152142446
|
|
NM_004360.5(CDH1):c.241G>A (p.Gly81Ser)
|
rs1060501225
|
|
NM_004360.5(CDH1):c.241G>C (p.Gly81Arg)
|
|
|
NM_004360.5(CDH1):c.241G>T (p.Gly81Cys)
|
|
|
NM_004360.5(CDH1):c.2420T>C (p.Ile807Thr)
|
rs1961433736
|
|
NM_004360.5(CDH1):c.2427T>G (p.Asn809Lys)
|
rs772173832
|
|
NM_004360.5(CDH1):c.2428T>C (p.Phe810Leu)
|
rs1178559383
|
|
NM_004360.5(CDH1):c.2429T>G (p.Phe810Cys)
|
rs1236811420
|
|
NM_004360.5(CDH1):c.242G>A (p.Gly81Asp)
|
rs1960510759
|
|
NM_004360.5(CDH1):c.242G>T (p.Gly81Val)
|
rs1960510759
|
|
NM_004360.5(CDH1):c.2431A>G (p.Ile811Val)
|
rs1555517917
|
|
NM_004360.5(CDH1):c.2432T>C (p.Ile811Thr)
|
rs1555517918
|
|
NM_004360.5(CDH1):c.2435A>C (p.Asp812Ala)
|
|
|
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)
|
rs878854684
|
|
NM_004360.5(CDH1):c.2438A>G (p.Glu813Gly)
|
rs1596972922
|
|
NM_004360.5(CDH1):c.2439+10C>A
|
|
|
NM_004360.5(CDH1):c.2439+3A>G
|
|
|
NM_004360.5(CDH1):c.2439+45C>G
|
|
|
NM_004360.5(CDH1):c.2439+4A>T
|
|
|
NM_004360.5(CDH1):c.2439+4_2439+5dup
|
rs1961435319
|
|
NM_004360.5(CDH1):c.2439+53G>A
|
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004360.5(CDH1):c.2440-118G>A
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
NM_004360.5(CDH1):c.2440-1G>T
|
rs1596976101
|
|
NM_004360.5(CDH1):c.2440-3T>C
|
|
|
NM_004360.5(CDH1):c.2440-52A>G
|
|
|
NM_004360.5(CDH1):c.2440A>G (p.Asn814Asp)
|
rs2152143825
|
|
NM_004360.5(CDH1):c.2441A>G (p.Asn814Ser)
|
|
|
NM_004360.5(CDH1):c.2444T>G (p.Leu815Arg)
|
rs1596976107
|
|
NM_004360.5(CDH1):c.2446A>G (p.Lys816Glu)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2447A>T (p.Lys816Ile)
|
rs1961532809
|
|
NM_004360.5(CDH1):c.2449G>A (p.Ala817Thr)
|
|
|
NM_004360.5(CDH1):c.2449G>C (p.Ala817Pro)
|
|
|
NM_004360.5(CDH1):c.244G>T (p.Val82Leu)
|
rs1064793867
|
|
NM_004360.5(CDH1):c.2450C>A (p.Ala817Glu)
|
|
|
NM_004360.5(CDH1):c.245T>A (p.Val82Glu)
|
rs942284129
|
|
NM_004360.5(CDH1):c.2464C>G (p.Pro822Ala)
|
rs876660086
|
|
NM_004360.5(CDH1):c.2465C>G (p.Pro822Arg)
|
rs1555518215
|
|
NM_004360.5(CDH1):c.2465C>T (p.Pro822Leu)
|
rs1555518215
|
|
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
|
NM_004360.5(CDH1):c.2468C>T (p.Thr823Ile)
|
rs1961533891
|
|
NM_004360.5(CDH1):c.2471C>A (p.Ala824Asp)
|
rs1450920019
|
|
NM_004360.5(CDH1):c.2471C>T (p.Ala824Val)
|
rs1450920019
|
|
NM_004360.5(CDH1):c.2476C>A (p.Pro826Thr)
|
|
|
NM_004360.5(CDH1):c.2476C>T (p.Pro826Ser)
|
rs1961534415
|
|
NM_004360.5(CDH1):c.247A>G (p.Ile83Val)
|
rs1960511548
|
|
NM_004360.5(CDH1):c.2480A>G (p.Tyr827Cys)
|
rs1555518224
|
|
NM_004360.5(CDH1):c.2486C>A (p.Ser829Tyr)
|
rs864622310
|
|
NM_004360.5(CDH1):c.2486C>T (p.Ser829Phe)
|
rs864622310
|
|
NM_004360.5(CDH1):c.2492T>G (p.Leu831Arg)
|
|
|
NM_004360.5(CDH1):c.2494G>T (p.Val832Leu)
|
rs35572355
|
|
NM_004360.5(CDH1):c.2497T>C (p.Phe833Leu)
|
rs863224728
|
|
NM_004360.5(CDH1):c.249T>C (p.Ile83=)
|
rs878854687
|
|
NM_004360.5(CDH1):c.2500G>A (p.Asp834Asn)
|
rs1567517670
|
|
NM_004360.5(CDH1):c.2503T>C (p.Tyr835His)
|
rs1961536179
|
|
NM_004360.5(CDH1):c.2504A>G (p.Tyr835Cys)
|
rs1961536275
|
|
NM_004360.5(CDH1):c.2510G>A (p.Gly837Glu)
|
rs1961536737
|
|
NM_004360.5(CDH1):c.2513G>A (p.Ser838Asn)
|
|
|
NM_004360.5(CDH1):c.2514C>A (p.Ser838Arg)
|
rs770974998
|
|
NM_004360.5(CDH1):c.2514C>G (p.Ser838Arg)
|
rs770974998
|
|
NM_004360.5(CDH1):c.2515G>T (p.Gly839Cys)
|
rs587780121
|
|
NM_004360.5(CDH1):c.2516G>A (p.Gly839Asp)
|
rs1961537321
|
|
NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro)
|
rs1555518243
|
|
NM_004360.5(CDH1):c.251C>A (p.Thr84Lys)
|
|
|
NM_004360.5(CDH1):c.2521G>C (p.Glu841Gln)
|
rs377489352
|
|
NM_004360.5(CDH1):c.2522A>T (p.Glu841Val)
|
|
|
NM_004360.5(CDH1):c.2527G>A (p.Ala843Thr)
|
rs768350776
|
|
NM_004360.5(CDH1):c.2529_2530delinsAG (p.Ser844Gly)
|
rs1961538497
|
|
NM_004360.5(CDH1):c.2530A>C (p.Ser844Arg)
|
|
|
NM_004360.5(CDH1):c.2531G>C (p.Ser844Thr)
|
rs1247754103
|
|
NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile)
|
rs1247754103
|
|
NM_004360.5(CDH1):c.2534T>A (p.Leu845Gln)
|
|
|
NM_004360.5(CDH1):c.2539T>G (p.Ser847Ala)
|
rs1555518248
|
|
NM_004360.5(CDH1):c.253G>A (p.Val85Ile)
|
rs1555514427
|
|
NM_004360.5(CDH1):c.2540C>G (p.Ser847Cys)
|
rs1555518249
|
|
NM_004360.5(CDH1):c.2540C>T (p.Ser847Phe)
|
rs1555518249
|
|
NM_004360.5(CDH1):c.2544G>C (p.Leu848=)
|
rs2152144040
|
|
NM_004360.5(CDH1):c.2546A>G (p.Asn849Ser)
|
rs1961539722
|
|
NM_004360.5(CDH1):c.2549C>T (p.Ser850Phe)
|
rs1337211551
|
|
NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)
|
rs2152144059
|
|
NM_004360.5(CDH1):c.2552C>G (p.Ser851Ter)
|
|
|
NM_004360.5(CDH1):c.2554G>A (p.Glu852Lys)
|
|
|
NM_004360.5(CDH1):c.2555A>G (p.Glu852Gly)
|
|
|
NM_004360.5(CDH1):c.2556G>T (p.Glu852Asp)
|
rs760315494
|
|
NM_004360.5(CDH1):c.2557T>C (p.Ser853Pro)
|
rs765978401
|
|
NM_004360.5(CDH1):c.2560G>C (p.Asp854His)
|
|
|
NM_004360.5(CDH1):c.2560G>T (p.Asp854Tyr)
|
|
|
NM_004360.5(CDH1):c.2561A>C (p.Asp854Ala)
|
rs1961541103
|
|
NM_004360.5(CDH1):c.2561A>T (p.Asp854Val)
|
rs1961541103
|
|
NM_004360.5(CDH1):c.2562C>A (p.Asp854Glu)
|
|
|
NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn)
|
rs2152144092
|
|
NM_004360.5(CDH1):c.2567A>C (p.Asp856Ala)
|
rs1567517789
|
|
NM_004360.5(CDH1):c.2568C>G (p.Asp856Glu)
|
rs1596976533
|
|
NM_004360.5(CDH1):c.2570A>G (p.Gln857Arg)
|
|
|
NM_004360.5(CDH1):c.2573A>G (p.Asp858Gly)
|
rs1961541678
|
|
NM_004360.5(CDH1):c.2574C>G (p.Asp858Glu)
|
rs1060501245
|
|
NM_004360.5(CDH1):c.2575T>C (p.Tyr859His)
|
rs1596976564
|
|
NM_004360.5(CDH1):c.2576A>G (p.Tyr859Cys)
|
rs1596976571
|
|
NM_004360.5(CDH1):c.2577T>A (p.Tyr859Ter)
|
rs765545887
|
|
NM_004360.5(CDH1):c.2578G>A (p.Asp860Asn)
|
rs1412506259
|
|
NM_004360.5(CDH1):c.2578G>C (p.Asp860His)
|
rs1412506259
|
|
NM_004360.5(CDH1):c.2581T>G (p.Tyr861Asp)
|
rs1185746867
|
|
NM_004360.5(CDH1):c.2582A>C (p.Tyr861Ser)
|
|
|
NM_004360.5(CDH1):c.2582A>G (p.Tyr861Cys)
|
rs1961542515
|
|
NM_004360.5(CDH1):c.2585T>G (p.Leu862Trp)
|
|
|
NM_004360.5(CDH1):c.2589C>A (p.Asn863Lys)
|
rs115817750
|
|
NM_004360.5(CDH1):c.2589C>G (p.Asn863Lys)
|
rs115817750
|
|
NM_004360.5(CDH1):c.258A>C (p.Lys86Asn)
|
|
|
NM_004360.5(CDH1):c.2590G>C (p.Glu864Gln)
|
rs142927667
|
|
NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)
|
rs1555518267
|
|
NM_004360.5(CDH1):c.2593T>G (p.Trp865Gly)
|
rs1555518267
|
|
NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)
|
rs1555518270
|
|
NM_004360.5(CDH1):c.2596G>A (p.Gly866Ser)
|
rs1060501230
|
|
NM_004360.5(CDH1):c.2597G>A (p.Gly866Asp)
|
rs1410318220
|
|
NM_004360.5(CDH1):c.2597G>T (p.Gly866Val)
|
rs1410318220
|
|
NM_004360.5(CDH1):c.2599A>G (p.Asn867Asp)
|
|
|
NM_004360.5(CDH1):c.25T>G (p.Ser9Ala)
|
rs1555509645
|
|
NM_004360.5(CDH1):c.2600A>C (p.Asn867Thr)
|
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
NM_004360.5(CDH1):c.2602_2612del (p.Arg868fs)
|
rs2152144176
|
|
NM_004360.5(CDH1):c.260G>A (p.Arg87Lys)
|
rs1960512598
|
|
NM_004360.5(CDH1):c.2612A>C (p.Lys871Thr)
|
rs2152144190
|
|
NM_004360.5(CDH1):c.2613G>C (p.Lys871Asn)
|
rs2152144195
|
|
NM_004360.5(CDH1):c.2614C>G (p.Leu872Val)
|
rs749203461
|
|
NM_004360.5(CDH1):c.2617G>A (p.Ala873Thr)
|
|
|
NM_004360.5(CDH1):c.2618C>T (p.Ala873Val)
|
|
|
NM_004360.5(CDH1):c.2620G>C (p.Asp874His)
|
rs1555518283
|
|
NM_004360.5(CDH1):c.2623A>G (p.Met875Val)
|
rs1555518287
|
|
NM_004360.5(CDH1):c.2624T>C (p.Met875Thr)
|
rs900118000
|
|
NM_004360.5(CDH1):c.2625G>A (p.Met875Ile)
|
rs1555518291
|
|
NM_004360.5(CDH1):c.2627A>T (p.Tyr876Phe)
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
NM_004360.5(CDH1):c.2629G>C (p.Gly877Arg)
|
|
|
NM_004360.5(CDH1):c.262C>A (p.Pro88Thr)
|
rs779313390
|
|
NM_004360.5(CDH1):c.262C>T (p.Pro88Ser)
|
rs779313390
|
|
NM_004360.5(CDH1):c.2636G>A (p.Gly879Asp)
|
|
|
NM_004360.5(CDH1):c.2636G>T (p.Gly879Val)
|
rs1567517888
|
|
NM_004360.5(CDH1):c.2638G>C (p.Glu880Gln)
|
rs34507583
|
|
NM_004360.5(CDH1):c.2639A>G (p.Glu880Gly)
|
rs1555518306
|
|
NM_004360.5(CDH1):c.263C>G (p.Pro88Arg)
|
rs1381409755
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
NM_004360.5(CDH1):c.2641G>A (p.Asp881Asn)
|
rs1198941336
|
|
NM_004360.5(CDH1):c.2644G>C (p.Asp882His)
|
|
|
NM_004360.5(CDH1):c.2645A>G (p.Asp882Gly)
|
rs1961548324
|
|
NM_004360.5(CDH1):c.2645A>T (p.Asp882Val)
|
rs1961548324
|
|
NM_004360.5(CDH1):c.2646C>G (p.Asp882Glu)
|
rs1555518315
|
|
NM_004360.5(CDH1):c.2647T>C (p.Ter883Gln)
|
rs932491569
|
|
NM_004360.5(CDH1):c.2648A>G (p.Ter883Trp)
|
|
|
NM_004360.5(CDH1):c.2649G>T (p.Ter883Tyr)
|
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
NM_004360.5(CDH1):c.269G>C (p.Arg90Pro)
|
rs587782647
|
|
NM_004360.5(CDH1):c.269G>T (p.Arg90Leu)
|
rs587782647
|
|
NM_004360.5(CDH1):c.26C>G (p.Ser9Trp)
|
|
|
NM_004360.5(CDH1):c.26C>T (p.Ser9Leu)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.271T>C (p.Phe91Leu)
|
|
|
NM_004360.5(CDH1):c.272T>G (p.Phe91Cys)
|
|
|
NM_004360.5(CDH1):c.277A>T (p.Asn93Tyr)
|
rs1960514281
|
|
NM_004360.5(CDH1):c.284A>G (p.Gln95Arg)
|
rs1960514915
|
|
NM_004360.5(CDH1):c.286A>T (p.Ile96Phe)
|
rs749306433
|
|
NM_004360.5(CDH1):c.287T>C (p.Ile96Thr)
|
rs2152126853
|
|
NM_004360.5(CDH1):c.289C>A (p.His97Asn)
|
rs587778173
|
|
NM_004360.5(CDH1):c.289C>G (p.His97Asp)
|
rs587778173
|
|
NM_004360.5(CDH1):c.293T>A (p.Phe98Tyr)
|
rs1555514451
|
|
NM_004360.5(CDH1):c.298G>A (p.Val100Ile)
|
rs1064793437
|
|
NM_004360.5(CDH1):c.298G>T (p.Val100Phe)
|
rs1064793437
|
|
NM_004360.5(CDH1):c.299T>C (p.Val100Ala)
|
rs1555514454
|
|
NM_004360.5(CDH1):c.29C>A (p.Ala10Glu)
|
rs1375360857
|
|
NM_004360.5(CDH1):c.29delinsGGCT (p.Ala10delinsGlyLeu)
|
rs1962425092
|
|
NM_004360.5(CDH1):c.302A>G (p.Tyr101Cys)
|
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
NM_004360.5(CDH1):c.307T>G (p.Trp103Gly)
|
|
|
NM_004360.5(CDH1):c.309G>C (p.Trp103Cys)
|
|
|
NM_004360.5(CDH1):c.311A>G (p.Asp104Gly)
|
|
|
NM_004360.5(CDH1):c.311A>T (p.Asp104Val)
|
rs760351575
|
|
NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)
|
rs1165815510
|
|
NM_004360.5(CDH1):c.320A>G (p.Tyr107Cys)
|
rs1060501241
|
|
NM_004360.5(CDH1):c.328T>C (p.Phe110Leu)
|
rs1960519396
|
|
NM_004360.5(CDH1):c.32T>C (p.Leu11Pro)
|
rs1393903966
|
|
NM_004360.5(CDH1):c.32T>G (p.Leu11Arg)
|
rs1393903966
|
|
NM_004360.5(CDH1):c.32TGC[2] (p.Leu13_Leu15del)
|
rs587782476
|
|
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)
|
rs587782476
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.331T>C (p.Ser111Pro)
|
rs1960519552
|
|
NM_004360.5(CDH1):c.332C>T (p.Ser111Phe)
|
rs1567501376
|
|
NM_004360.5(CDH1):c.338A>C (p.Lys113Thr)
|
rs1960520003
|
|
NM_004360.5(CDH1):c.340G>A (p.Val114Ile)
|
|
|
NM_004360.5(CDH1):c.343A>G (p.Thr115Ala)
|
|
|
NM_004360.5(CDH1):c.344C>G (p.Thr115Arg)
|
rs370973869
|
|
NM_004360.5(CDH1):c.350A>G (p.Asn117Ser)
|
rs758733846
|
|
NM_004360.5(CDH1):c.350A>T (p.Asn117Ile)
|
rs758733846
|
|
NM_004360.5(CDH1):c.352A>G (p.Thr118Ala)
|
rs1555514476
|
|
NM_004360.5(CDH1):c.353C>G (p.Thr118Arg)
|
rs587782677
|
|
NM_004360.5(CDH1):c.353C>T (p.Thr118Ile)
|
rs587782677
|
|
NM_004360.5(CDH1):c.355G>A (p.Val119Met)
|
rs786203849
|
|
NM_004360.5(CDH1):c.356T>G (p.Val119Gly)
|
rs1597884955
|
|
NM_004360.5(CDH1):c.358G>A (p.Gly120Arg)
|
rs751789834
|
|
NM_004360.5(CDH1):c.358G>T (p.Gly120Trp)
|
rs751789834
|
|
NM_004360.5(CDH1):c.361C>A (p.His121Asn)
|
rs1305026083
|
|
NM_004360.5(CDH1):c.362A>G (p.His121Arg)
|
|
|
NM_004360.5(CDH1):c.363C>G (p.His121Gln)
|
rs781427897
|
|
NM_004360.5(CDH1):c.363_364delinsAG (p.His121_His122delinsGlnAsp)
|
rs1597884981
|
|
NM_004360.5(CDH1):c.364C>T (p.His122Tyr)
|
rs528816701
|
|
NM_004360.5(CDH1):c.367C>A (p.His123Asn)
|
rs1555514482
|
|
NM_004360.5(CDH1):c.367C>G (p.His123Asp)
|
rs1555514482
|
|
NM_004360.5(CDH1):c.370C>A (p.Arg124Ser)
|
rs748086082
|
|
NM_004360.5(CDH1):c.371G>C (p.Arg124Pro)
|
rs115418995
|
|
NM_004360.5(CDH1):c.371G>T (p.Arg124Leu)
|
|
|
NM_004360.5(CDH1):c.373C>A (p.Pro125Thr)
|
|
|
NM_004360.5(CDH1):c.374C>T (p.Pro125Leu)
|
rs2152127049
|
|
NM_004360.5(CDH1):c.375C>T (p.Pro125=)
|
rs773044699
|
|
NM_004360.5(CDH1):c.376C>T (p.Pro126Ser)
|
rs1555514491
|
|
NM_004360.5(CDH1):c.377C>A (p.Pro126Gln)
|
rs746703615
|
|
NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)
|
rs746703615
|
|
NM_004360.5(CDH1):c.379C>A (p.Pro127Thr)
|
rs1060501250
|
|
NM_004360.5(CDH1):c.383A>G (p.His128Arg)
|
rs1960525322
|
|
NM_004360.5(CDH1):c.387+1G>C
|
rs587781919
|
|
NM_004360.5(CDH1):c.387+2T>A
|
rs903144020
|
|
NM_004360.5(CDH1):c.387+2T>C
|
rs903144020
|
|
NM_004360.5(CDH1):c.387+3A>G
|
|
|
NM_004360.5(CDH1):c.387+4T>G
|
|
|
NM_004360.5(CDH1):c.387+6T>A
|
|
|
NM_004360.5(CDH1):c.387+76C>A
|
|
|
NM_004360.5(CDH1):c.387G>C (p.Gln129His)
|
|
|
NM_004360.5(CDH1):c.387G>T (p.Gln129His)
|
rs764700595
|
|
NM_004360.5(CDH1):c.388G>A (p.Ala130Thr)
|
rs2152129578
|
|
NM_004360.5(CDH1):c.388G>C (p.Ala130Pro)
|
rs2152129578
|
|
NM_004360.5(CDH1):c.389C>A (p.Ala130Asp)
|
rs1960723934
|
|
NM_004360.5(CDH1):c.389C>G (p.Ala130Gly)
|
|
|
NM_004360.5(CDH1):c.389C>T (p.Ala130Val)
|
rs1960723934
|
|
NM_004360.5(CDH1):c.391T>G (p.Ser131Ala)
|
rs2152129586
|
|
NM_004360.5(CDH1):c.394G>T (p.Val132Phe)
|
rs142498771
|
|
NM_004360.5(CDH1):c.400G>A (p.Gly134Arg)
|
rs1060501220
|
|
NM_004360.5(CDH1):c.400G>C (p.Gly134Arg)
|
rs1060501220
|
|
NM_004360.5(CDH1):c.404T>A (p.Ile135Asn)
|
rs1555515189
|
|
NM_004360.5(CDH1):c.407A>G (p.Gln136Arg)
|
rs1184630483
|
|
NM_004360.5(CDH1):c.409G>A (p.Ala137Thr)
|
rs876658797
|
|
NM_004360.5(CDH1):c.409G>C (p.Ala137Pro)
|
rs876658797
|
|
NM_004360.5(CDH1):c.409_410delinsAG (p.Ala137Arg)
|
|
|
NM_004360.5(CDH1):c.410C>A (p.Ala137Glu)
|
rs2152129622
|
|
NM_004360.5(CDH1):c.413A>G (p.Glu138Gly)
|
rs864622284
|
|
NM_004360.5(CDH1):c.417G>C (p.Leu139Phe)
|
rs1057521858
|
|
NM_004360.5(CDH1):c.418C>T (p.Leu140Phe)
|
rs758277885
|
|
NM_004360.5(CDH1):c.421A>C (p.Thr141Pro)
|
|
|
NM_004360.5(CDH1):c.428C>T (p.Pro143Leu)
|
rs777714207
|
|
NM_004360.5(CDH1):c.431A>G (p.Asn144Ser)
|
rs1597890516
|
|
NM_004360.5(CDH1):c.434C>A (p.Ser145Tyr)
|
rs1960726290
|
|
NM_004360.5(CDH1):c.437C>T (p.Ser146Phe)
|
|
|
NM_004360.5(CDH1):c.439C>T (p.Pro147Ser)
|
rs1567504538
|
|
NM_004360.5(CDH1):c.440C>G (p.Pro147Arg)
|
rs587782571
|
|
NM_004360.5(CDH1):c.442G>A (p.Gly148Ser)
|
rs1567504543
|
|
NM_004360.5(CDH1):c.443G>A (p.Gly148Asp)
|
rs1960726961
|
|
NM_004360.5(CDH1):c.443G>C (p.Gly148Ala)
|
rs1960726961
|
|
NM_004360.5(CDH1):c.443G>T (p.Gly148Val)
|
rs1960726961
|
|
NM_004360.5(CDH1):c.445C>G (p.Leu149Val)
|
rs876658781
|
|
NM_004360.5(CDH1):c.446T>C (p.Leu149Pro)
|
rs780955025
|
|
NM_004360.5(CDH1):c.452G>T (p.Arg151Ile)
|
rs1060501213
|
|
NM_004360.5(CDH1):c.454C>G (p.Gln152Glu)
|
rs1555515211
|
|
NM_004360.5(CDH1):c.455A>C (p.Gln152Pro)
|
rs1233421331
|
|
NM_004360.5(CDH1):c.455A>G (p.Gln152Arg)
|
rs1233421331
|
|
NM_004360.5(CDH1):c.459G>C (p.Lys153Asn)
|
|
|
NM_004360.5(CDH1):c.459G>T (p.Lys153Asn)
|
|
|
NM_004360.5(CDH1):c.464A>G (p.Asp155Gly)
|
|
|
NM_004360.5(CDH1):c.465C>G (p.Asp155Glu)
|
rs1597890615
|
|
NM_004360.5(CDH1):c.469G>A (p.Val157Ile)
|
rs1960728608
|
|
NM_004360.5(CDH1):c.46C>G (p.Gln16Glu)
|
|
|
NM_004360.5(CDH1):c.470T>C (p.Val157Ala)
|
rs587783046
|
|
NM_004360.5(CDH1):c.47A>G (p.Gln16Arg)
|
|
|
NM_004360.5(CDH1):c.47A>T (p.Gln16Leu)
|
rs775705607
|
|
NM_004360.5(CDH1):c.48+41C>T
|
|
|
NM_004360.5(CDH1):c.48+52C>A
|
|
|
NM_004360.5(CDH1):c.48+5C>T
|
rs77312180
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsAT
|
rs1555509656
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsGT
|
rs1555509656
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsTT
|
rs1555509656
|
|
NM_004360.5(CDH1):c.48+63T>C
|
|
|
NM_004360.5(CDH1):c.48+6_48+7delinsTG
|
rs786200947
|
|
NM_004360.5(CDH1):c.48+83C>T
|
|
|
NM_004360.5(CDH1):c.485G>T (p.Ser162Ile)
|
rs1567504603
|
|
NM_004360.5(CDH1):c.487T>C (p.Cys163Arg)
|
|
|
NM_004360.5(CDH1):c.488G>A (p.Cys163Tyr)
|
rs748783182
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
NM_004360.5(CDH1):c.489C>G (p.Cys163Trp)
|
rs1064794230
|
|
NM_004360.5(CDH1):c.48G>A (p.Gln16=)
|
rs749591910
|
|
NM_004360.5(CDH1):c.48G>C (p.Gln16His)
|
rs749591910
|
|
NM_004360.5(CDH1):c.49-13T>A
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
NM_004360.5(CDH1):c.49-3C>A
|
rs587782366
|
|
NM_004360.5(CDH1):c.49-3C>G
|
|
|
NM_004360.5(CDH1):c.49-6C>G
|
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
NM_004360.5(CDH1):c.490C>G (p.Pro164Ala)
|
rs1597890670
|
|
NM_004360.5(CDH1):c.490C>T (p.Pro164Ser)
|
|
|
NM_004360.5(CDH1):c.498T>G (p.Asn166Lys)
|
rs1555515224
|
|
NM_004360.5(CDH1):c.49G>C (p.Val17Leu)
|
rs780470521
|
|
NM_004360.5(CDH1):c.4G>C (p.Gly2Arg)
|
|
|
NM_004360.5(CDH1):c.503A>G (p.Lys168Arg)
|
rs1483883033
|
|
NM_004360.5(CDH1):c.505G>A (p.Gly169Ser)
|
rs1597890692
|
|
NM_004360.5(CDH1):c.508C>T (p.Pro170Ser)
|
rs1284865285
|
|
NM_004360.5(CDH1):c.509C>A (p.Pro170Gln)
|
|
|
NM_004360.5(CDH1):c.509C>T (p.Pro170Leu)
|
rs2152129802
|
|
NM_004360.5(CDH1):c.512T>G (p.Phe171Cys)
|
rs772622109
|
|
NM_004360.5(CDH1):c.514C>T (p.Pro172Ser)
|
rs2152129811
|
|
NM_004360.5(CDH1):c.519A>C (p.Lys173Asn)
|
|
|
NM_004360.5(CDH1):c.520A>G (p.Asn174Asp)
|
rs1960730617
|
|
NM_004360.5(CDH1):c.521A>T (p.Asn174Ile)
|
rs1597890718
|
|
NM_004360.5(CDH1):c.522C>A (p.Asn174Lys)
|
rs571581856
|
|
NM_004360.5(CDH1):c.522C>G (p.Asn174Lys)
|
|
|
NM_004360.5(CDH1):c.526G>A (p.Val176Ile)
|
rs2152129832
|
|
NM_004360.5(CDH1):c.531+3A>C
|
|
|
NM_004360.5(CDH1):c.531+4G>A
|
|
|
NM_004360.5(CDH1):c.531+5A>G
|
|
|
NM_004360.5(CDH1):c.531+6G>A
|
rs1960731673
|
|
NM_004360.5(CDH1):c.531G>A (p.Gln177=)
|
rs876659103
|
|
NM_004360.5(CDH1):c.532-25T>C
|
|
|
NM_004360.5(CDH1):c.532A>G (p.Ile178Val)
|
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
NM_004360.5(CDH1):c.53C>A (p.Ser18Tyr)
|
|
|
NM_004360.5(CDH1):c.541A>G (p.Asn181Asp)
|
|
|
NM_004360.5(CDH1):c.543C>G (p.Asn181Lys)
|
rs2152130057
|
|
NM_004360.5(CDH1):c.543CAAAGA[1] (p.Asp183_Lys184del)
|
rs1960735700
|
|
NM_004360.5(CDH1):c.547G>A (p.Asp183Asn)
|
|
|
NM_004360.5(CDH1):c.548A>G (p.Asp183Gly)
|
rs1960736116
|
|
NM_004360.5(CDH1):c.550A>G (p.Lys184Glu)
|
|
|
NM_004360.5(CDH1):c.552A>C (p.Lys184Asn)
|
rs1555515248
|
|
NM_004360.5(CDH1):c.554A>T (p.Glu185Val)
|
rs1060501228
|
|
NM_004360.5(CDH1):c.557G>A (p.Gly186Asp)
|
rs1567504752
|
|
NM_004360.5(CDH1):c.557G>T (p.Gly186Val)
|
rs1567504752
|
|
NM_004360.5(CDH1):c.55T>C (p.Ser19Pro)
|
|
|
NM_004360.5(CDH1):c.562G>C (p.Val188Leu)
|
rs775484115
|
|
NM_004360.5(CDH1):c.563T>C (p.Val188Ala)
|
|
|
NM_004360.5(CDH1):c.569A>G (p.Tyr190Cys)
|
|
|
NM_004360.5(CDH1):c.56C>A (p.Ser19Tyr)
|
rs1221633501
|
|
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)
|
rs1221633501
|
|
NM_004360.5(CDH1):c.56C>T (p.Ser19Phe)
|
rs1221633501
|
|
NM_004360.5(CDH1):c.572G>A (p.Ser191Asn)
|
rs2152130119
|
|
NM_004360.5(CDH1):c.577A>G (p.Thr193Ala)
|
rs1597891014
|
|
NM_004360.5(CDH1):c.578C>T (p.Thr193Ile)
|
rs970086859
|
|
NM_004360.5(CDH1):c.580G>A (p.Gly194Ser)
|
|
|
NM_004360.5(CDH1):c.581G>A (p.Gly194Asp)
|
|
|
NM_004360.5(CDH1):c.583C>G (p.Gln195Glu)
|
rs1960737851
|
|
NM_004360.5(CDH1):c.584A>G (p.Gln195Arg)
|
|
|
NM_004360.5(CDH1):c.585A>C (p.Gln195His)
|
rs1555515262
|
|
NM_004360.5(CDH1):c.587G>A (p.Gly196Glu)
|
|
|
NM_004360.5(CDH1):c.58T>A (p.Trp20Arg)
|
|
|
NM_004360.5(CDH1):c.592G>C (p.Asp198His)
|
rs1308439785
|
|
NM_004360.5(CDH1):c.593A>T (p.Asp198Val)
|
|
|
NM_004360.5(CDH1):c.595A>G (p.Thr199Ala)
|
|
|
NM_004360.5(CDH1):c.596C>A (p.Thr199Lys)
|
rs750249747
|
|
NM_004360.5(CDH1):c.597A>G (p.Thr199=)
|
rs1960738532
|
|
NM_004360.5(CDH1):c.598C>A (p.Pro200Thr)
|
rs1960738612
|
|
NM_004360.5(CDH1):c.598C>T (p.Pro200Ser)
|
rs1960738612
|
|
NM_004360.5(CDH1):c.599C>T (p.Pro200Leu)
|
rs1555515266
|
|
NM_004360.5(CDH1):c.59G>C (p.Trp20Ser)
|
rs121964875
|
|
NM_004360.5(CDH1):c.5G>T (p.Gly2Val)
|
rs878854692
|
|
NM_004360.5(CDH1):c.601C>T (p.Pro201Ser)
|
rs2152130165
|
|
NM_004360.5(CDH1):c.602C>A (p.Pro201His)
|
rs146777134
|
|
NM_004360.5(CDH1):c.602C>T (p.Pro201Leu)
|
rs146777134
|
|
NM_004360.5(CDH1):c.604G>C (p.Val202Leu)
|
rs546716073
|
|
NM_004360.5(CDH1):c.605T>C (p.Val202Ala)
|
rs1257844218
|
|
NM_004360.5(CDH1):c.607G>A (p.Gly203Ser)
|
rs1215319435
|
|
NM_004360.5(CDH1):c.607G>C (p.Gly203Arg)
|
rs1215319435
|
|
NM_004360.5(CDH1):c.608G>C (p.Gly203Ala)
|
|
|
NM_004360.5(CDH1):c.610G>A (p.Val204Ile)
|
rs876661028
|
|
NM_004360.5(CDH1):c.610G>T (p.Val204Phe)
|
rs876661028
|
|
NM_004360.5(CDH1):c.611T>A (p.Val204Asp)
|
|
|
NM_004360.5(CDH1):c.611T>C (p.Val204Ala)
|
rs754581268
|
|
NM_004360.5(CDH1):c.613T>C (p.Phe205Leu)
|
rs1960739930
|
|
NM_004360.5(CDH1):c.614T>C (p.Phe205Ser)
|
rs1567504835
|
|
NM_004360.5(CDH1):c.616A>C (p.Ile206Leu)
|
|
|
NM_004360.5(CDH1):c.616A>G (p.Ile206Val)
|
rs1004655282
|
|
NM_004360.5(CDH1):c.617T>C (p.Ile206Thr)
|
rs1254143781
|
|
NM_004360.5(CDH1):c.619A>G (p.Ile207Val)
|
rs1470258333
|
|
NM_004360.5(CDH1):c.61C>A (p.Leu21Ile)
|
rs863224729
|
|
NM_004360.5(CDH1):c.61C>T (p.Leu21Phe)
|
rs863224729
|
|
NM_004360.5(CDH1):c.620T>G (p.Ile207Ser)
|
|
|
NM_004360.5(CDH1):c.626G>A (p.Arg209Lys)
|
rs1060501243
|
|
NM_004360.5(CDH1):c.627A>C (p.Arg209Ser)
|
rs371601956
|
|
NM_004360.5(CDH1):c.62T>C (p.Leu21Pro)
|
rs1064794920
|
|
NM_004360.5(CDH1):c.631A>T (p.Thr211Ser)
|
rs587781766
|
|
NM_004360.5(CDH1):c.634G>C (p.Gly212Arg)
|
rs1064796210
|
|
NM_004360.5(CDH1):c.637T>A (p.Trp213Arg)
|
rs1555515277
|
|
NM_004360.5(CDH1):c.638G>T (p.Trp213Leu)
|
rs1567504890
|
|
NM_004360.5(CDH1):c.641T>C (p.Leu214Pro)
|
rs1960741733
|
|
NM_004360.5(CDH1):c.641T>G (p.Leu214Arg)
|
|
|
NM_004360.5(CDH1):c.649A>G (p.Thr217Ala)
|
rs1567504901
|
|
NM_004360.5(CDH1):c.650C>T (p.Thr217Ile)
|
rs778382252
|
|
NM_004360.5(CDH1):c.652G>A (p.Glu218Lys)
|
rs1555515280
|
|
NM_004360.5(CDH1):c.653A>G (p.Glu218Gly)
|
rs878854693
|
|
NM_004360.5(CDH1):c.655C>T (p.Pro219Ser)
|
rs1060501216
|
|
NM_004360.5(CDH1):c.656C>G (p.Pro219Arg)
|
rs1960742618
|
|
NM_004360.5(CDH1):c.656C>T (p.Pro219Leu)
|
rs1960742618
|
|
NM_004360.5(CDH1):c.658C>A (p.Leu220Met)
|
rs1060501246
|
|
NM_004360.5(CDH1):c.659T>G (p.Leu220Arg)
|
|
|
NM_004360.5(CDH1):c.65G>A (p.Cys22Tyr)
|
rs1555509758
|
|
NM_004360.5(CDH1):c.65G>T (p.Cys22Phe)
|
|
|
NM_004360.5(CDH1):c.66C>G (p.Cys22Trp)
|
rs865838543
|
|
NM_004360.5(CDH1):c.670C>A (p.Arg224Ser)
|
rs200310662
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
NM_004360.5(CDH1):c.673A>G (p.Ile225Val)
|
rs1555515290
|
|
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr)
|
rs786203207
|
|
NM_004360.5(CDH1):c.677C>T (p.Ala226Val)
|
rs1555515292
|
|
NM_004360.5(CDH1):c.680C>T (p.Thr227Ile)
|
|
|
NM_004360.5(CDH1):c.683A>G (p.Tyr228Cys)
|
rs1597891240
|
|
NM_004360.5(CDH1):c.687+2dup
|
|
|
NM_004360.5(CDH1):c.687+4A>G
|
|
|
NM_004360.5(CDH1):c.687+4_687+7del
|
rs1597891251
|
|
NM_004360.5(CDH1):c.687+5G>A
|
rs786202423
|
|
NM_004360.5(CDH1):c.688-11_688-10delinsTT
|
|
|
NM_004360.5(CDH1):c.688-12T>G
|
|
|
NM_004360.5(CDH1):c.688-14_688-6del
|
rs1960778872
|
|
NM_004360.5(CDH1):c.688-18C>G
|
rs1567505564
|
|
NM_004360.5(CDH1):c.688-53C>G
|
|
|
NM_004360.5(CDH1):c.688C>G (p.Leu230Val)
|
|
|
NM_004360.5(CDH1):c.689T>A (p.Leu230His)
|
|
|
NM_004360.5(CDH1):c.689T>C (p.Leu230Pro)
|
|
|
NM_004360.5(CDH1):c.68A>T (p.Gln23Leu)
|
rs1962456890
|
|
NM_004360.5(CDH1):c.692T>A (p.Phe231Tyr)
|
|
|
NM_004360.5(CDH1):c.694T>A (p.Ser232Thr)
|
|
|
NM_004360.5(CDH1):c.695C>G (p.Ser232Cys)
|
rs1555515422
|
|
NM_004360.5(CDH1):c.699C>G (p.His233Gln)
|
rs115494727
|
|
NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)
|
rs878854694
|
|
NM_004360.5(CDH1):c.703G>A (p.Val235Met)
|
rs1960779838
|
|
NM_004360.5(CDH1):c.706T>C (p.Ser236Pro)
|
rs2152131015
|
|
NM_004360.5(CDH1):c.707C>T (p.Ser236Leu)
|
rs730881663
|
|
NM_004360.5(CDH1):c.709T>G (p.Ser237Ala)
|
|
|
NM_004360.5(CDH1):c.710C>G (p.Ser237Cys)
|
rs1960780087
|
|
NM_004360.5(CDH1):c.713A>C (p.Asn238Thr)
|
|
|
NM_004360.5(CDH1):c.713A>G (p.Asn238Ser)
|
|
|
NM_004360.5(CDH1):c.716G>A (p.Gly239Glu)
|
rs2152131027
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
NM_004360.5(CDH1):c.720T>G (p.Asn240Lys)
|
rs2152131034
|
|
NM_004360.5(CDH1):c.721G>A (p.Ala241Thr)
|
rs1555515434
|
|
NM_004360.5(CDH1):c.734C>T (p.Pro245Leu)
|
|
|
NM_004360.5(CDH1):c.736A>G (p.Met246Val)
|
rs1960781848
|
|
NM_004360.5(CDH1):c.743T>C (p.Ile248Thr)
|
rs1555515438
|
|
NM_004360.5(CDH1):c.747G>C (p.Leu249Phe)
|
|
|
NM_004360.5(CDH1):c.748A>G (p.Ile250Val)
|
rs1597892398
|
|
NM_004360.5(CDH1):c.74C>T (p.Pro25Leu)
|
rs1485238301
|
|
NM_004360.5(CDH1):c.751A>G (p.Thr251Ala)
|
|
|
NM_004360.5(CDH1):c.752C>T (p.Thr251Met)
|
rs1454205778
|
|
NM_004360.5(CDH1):c.754G>A (p.Val252Ile)
|
rs1358319984
|
|
NM_004360.5(CDH1):c.755T>G (p.Val252Gly)
|
rs1960782710
|
|
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn)
|
rs1555515445
|
|
NM_004360.5(CDH1):c.764A>G (p.Gln255Arg)
|
rs2152131091
|
|
NM_004360.5(CDH1):c.765G>T (p.Gln255His)
|
rs1597892443
|
|
NM_004360.5(CDH1):c.76G>A (p.Glu26Lys)
|
rs786201058
|
|
NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)
|
rs786201058
|
|
NM_004360.5(CDH1):c.770A>G (p.Asp257Gly)
|
rs1555515446
|
|
NM_004360.5(CDH1):c.771CAA[1] (p.Asn258del)
|
|
|
NM_004360.5(CDH1):c.772A>T (p.Asn258Tyr)
|
rs1555515449
|
|
NM_004360.5(CDH1):c.778C>T (p.Pro260Ser)
|
rs1567505715
|
|
NM_004360.5(CDH1):c.784T>G (p.Phe262Val)
|
rs1567505730
|
|
NM_004360.5(CDH1):c.785T>G (p.Phe262Cys)
|
rs1597892468
|
|
NM_004360.5(CDH1):c.787A>G (p.Thr263Ala)
|
rs1555515453
|
|
NM_004360.5(CDH1):c.787A>T (p.Thr263Ser)
|
rs1555515453
|
|
NM_004360.5(CDH1):c.788C>T (p.Thr263Ile)
|
rs1555515456
|
|
NM_004360.5(CDH1):c.78G>T (p.Glu26Asp)
|
|
|
NM_004360.5(CDH1):c.793G>A (p.Glu265Lys)
|
rs876659503
|
|
NM_004360.5(CDH1):c.796G>T (p.Val266Phe)
|
rs1555515463
|
|
NM_004360.5(CDH1):c.7C>T (p.Pro3Ser)
|
rs1064793079
|
|
NM_004360.5(CDH1):c.806G>A (p.Gly269Glu)
|
|
|
NM_004360.5(CDH1):c.806G>C (p.Gly269Ala)
|
|
|
NM_004360.5(CDH1):c.80C>T (p.Pro27Leu)
|
rs1597838536
|
|
NM_004360.5(CDH1):c.815T>C (p.Met272Thr)
|
rs1567505776
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004360.5(CDH1):c.821G>T (p.Gly274Val)
|
rs876660861
|
|
NM_004360.5(CDH1):c.824C>A (p.Ala275Asp)
|
rs2152131195
|
|
NM_004360.5(CDH1):c.826C>G (p.Leu276Val)
|
rs750911401
|
|
NM_004360.5(CDH1):c.827T>C (p.Leu276Pro)
|
rs1960786758
|
|
NM_004360.5(CDH1):c.829C>A (p.Pro277Thr)
|
rs864622346
|
|
NM_004360.5(CDH1):c.829C>T (p.Pro277Ser)
|
rs864622346
|
|
NM_004360.5(CDH1):c.832+5A>G
|
rs756521764
|
|
NM_004360.5(CDH1):c.832+6T>C
|
rs1567505832
|
|
NM_004360.5(CDH1):c.832+6T>G
|
rs1567505832
|
|
NM_004360.5(CDH1):c.833-10A>G
|
rs1168685891
|
|
NM_004360.5(CDH1):c.833-19T>G
|
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
NM_004360.5(CDH1):c.833G>A (p.Gly278Glu)
|
rs1555515597
|
|
NM_004360.5(CDH1):c.833G>C (p.Gly278Ala)
|
rs1555515597
|
|
NM_004360.5(CDH1):c.834A>G (p.Gly278=)
|
rs1597893922
|
|
NM_004360.5(CDH1):c.835A>G (p.Thr279Ala)
|
|
|
NM_004360.5(CDH1):c.835A>T (p.Thr279Ser)
|
rs1444822940
|
|
NM_004360.5(CDH1):c.835_836delinsGA (p.Thr279Asp)
|
rs1960834189
|
|
NM_004360.5(CDH1):c.836C>G (p.Thr279Ser)
|
rs761269950
|
|
NM_004360.5(CDH1):c.83G>A (p.Cys28Tyr)
|
|
|
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
|
|
|
NM_004360.5(CDH1):c.845T>A (p.Met282Lys)
|
rs730881652
|
|
NM_004360.5(CDH1):c.847G>A (p.Glu283Lys)
|
rs1555515601
|
|
NM_004360.5(CDH1):c.849G>C (p.Glu283Asp)
|
rs2152131901
|
|
NM_004360.5(CDH1):c.850G>A (p.Val284Ile)
|
rs786202364
|
|
NM_004360.5(CDH1):c.853A>C (p.Thr285Pro)
|
|
|
NM_004360.5(CDH1):c.856G>A (p.Ala286Thr)
|
rs1597893973
|
|
NM_004360.5(CDH1):c.859A>G (p.Thr287Ala)
|
|
|
NM_004360.5(CDH1):c.85C>T (p.His29Tyr)
|
rs1254266267
|
|
NM_004360.5(CDH1):c.860C>A (p.Thr287Lys)
|
rs2152131921
|
|
NM_004360.5(CDH1):c.864C>G (p.Asp288Glu)
|
|
|
NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)
|
rs1255556757
|
|
NM_004360.5(CDH1):c.869A>G (p.Asp290Gly)
|
rs2152131936
|
|
NM_004360.5(CDH1):c.86A>G (p.His29Arg)
|
rs1555509761
|
|
NM_004360.5(CDH1):c.86A>T (p.His29Leu)
|
rs1555509761
|
|
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)
|
rs876660645
|
|
NM_004360.5(CDH1):c.872ATG[1] (p.Asp292del)
|
rs1555515607
|
|
NM_004360.5(CDH1):c.874G>A (p.Asp292Asn)
|
rs1597894017
|
|
NM_004360.5(CDH1):c.877G>A (p.Val293Met)
|
rs1960836448
|
|
NM_004360.5(CDH1):c.878T>C (p.Val293Ala)
|
rs876659186
|
|
NM_004360.5(CDH1):c.878T>G (p.Val293Gly)
|
rs876659186
|
|
NM_004360.5(CDH1):c.87C>A (p.His29Gln)
|
rs1555509762
|
|
NM_004360.5(CDH1):c.87C>G (p.His29Gln)
|
|
|
NM_004360.5(CDH1):c.883A>G (p.Thr295Ala)
|
rs1555515611
|
|
NM_004360.5(CDH1):c.884C>A (p.Thr295Asn)
|
rs786204179
|
|
NM_004360.5(CDH1):c.884C>T (p.Thr295Ile)
|
|
|
NM_004360.5(CDH1):c.889A>G (p.Asn297Asp)
|
rs1960837220
|
|
NM_004360.5(CDH1):c.88C>T (p.Pro30Ser)
|
rs139866691
|
|
NM_004360.5(CDH1):c.890A>G (p.Asn297Ser)
|
rs572375953
|
|
NM_004360.5(CDH1):c.892G>C (p.Ala298Pro)
|
|
|
NM_004360.5(CDH1):c.893C>A (p.Ala298Asp)
|
rs1017050648
|
|
NM_004360.5(CDH1):c.893C>T (p.Ala298Val)
|
rs1017050648
|
|
NM_004360.5(CDH1):c.896C>T (p.Ala299Val)
|
rs745807727
|
|
NM_004360.5(CDH1):c.900C>A (p.Ile300=)
|
rs775452740
|
|
NM_004360.5(CDH1):c.900C>G (p.Ile300Met)
|
rs775452740
|
|
NM_004360.5(CDH1):c.902C>T (p.Ala301Val)
|
|
|
NM_004360.5(CDH1):c.905A>G (p.Tyr302Cys)
|
rs768467134
|
|
NM_004360.5(CDH1):c.907A>T (p.Thr303Ser)
|
rs876660744
|
|
NM_004360.5(CDH1):c.908C>T (p.Thr303Ile)
|
|
|
NM_004360.5(CDH1):c.910A>G (p.Ile304Val)
|
rs1597894113
|
|
NM_004360.5(CDH1):c.914T>A (p.Leu305His)
|
rs1960838832
|
|
NM_004360.5(CDH1):c.916A>G (p.Ser306Gly)
|
rs1555515624
|
|
NM_004360.5(CDH1):c.91G>A (p.Gly31Ser)
|
rs2152114387
|
|
NM_004360.5(CDH1):c.921A>C (p.Gln307His)
|
rs876660221
|
|
NM_004360.5(CDH1):c.922G>A (p.Asp308Asn)
|
rs1339256204
|
|
NM_004360.5(CDH1):c.922G>C (p.Asp308His)
|
rs1339256204
|
|
NM_004360.5(CDH1):c.923A>G (p.Asp308Gly)
|
|
|
NM_004360.5(CDH1):c.923A>T (p.Asp308Val)
|
rs1567506664
|
|
NM_004360.5(CDH1):c.924T>C (p.Asp308=)
|
rs1555515629
|
|
NM_004360.5(CDH1):c.924T>G (p.Asp308Glu)
|
|
|
NM_004360.5(CDH1):c.926C>G (p.Pro309Arg)
|
rs529089668
|
|
NM_004360.5(CDH1):c.926C>T (p.Pro309Leu)
|
rs529089668
|
|
NM_004360.5(CDH1):c.928G>A (p.Glu310Lys)
|
rs1597894150
|
|
NM_004360.5(CDH1):c.929A>G (p.Glu310Gly)
|
rs1291900177
|
|
NM_004360.5(CDH1):c.92G>A (p.Gly31Asp)
|
rs1131690823
|
|
NM_004360.5(CDH1):c.92G>C (p.Gly31Ala)
|
rs1131690823
|
|
NM_004360.5(CDH1):c.92G>T (p.Gly31Val)
|
rs1131690823
|
|
NM_004360.5(CDH1):c.931C>T (p.Leu311Phe)
|
rs767003567
|
|
NM_004360.5(CDH1):c.932_933delinsAT (p.Leu311His)
|
|
|
NM_004360.5(CDH1):c.935C>T (p.Pro312Leu)
|
|
|
NM_004360.5(CDH1):c.937G>T (p.Asp313Tyr)
|
rs993545618
|
|
NM_004360.5(CDH1):c.938A>T (p.Asp313Val)
|
|
|
NM_004360.5(CDH1):c.939C>G (p.Asp313Glu)
|
rs955528859
|
|
NM_004360.5(CDH1):c.940A>G (p.Lys314Glu)
|
rs1131690820
|
|
NM_004360.5(CDH1):c.941A>T (p.Lys314Ile)
|
rs1960840529
|
|
NM_004360.5(CDH1):c.944A>C (p.Asn315Thr)
|
rs1960840611
|
|
NM_004360.5(CDH1):c.946A>G (p.Met316Val)
|
rs761182866
|
|
NM_004360.5(CDH1):c.946A>T (p.Met316Leu)
|
rs761182866
|
|
NM_004360.5(CDH1):c.947T>C (p.Met316Thr)
|
|
|
NM_004360.5(CDH1):c.948G>A (p.Met316Ile)
|
rs1960840818
|
|
NM_004360.5(CDH1):c.949T>C (p.Phe317Leu)
|
rs1555515643
|
|
NM_004360.5(CDH1):c.951C>G (p.Phe317Leu)
|
rs985713723
|
|
NM_004360.5(CDH1):c.952A>G (p.Thr318Ala)
|
|
|
NM_004360.5(CDH1):c.953C>T (p.Thr318Ile)
|
rs1555515644
|
|
NM_004360.5(CDH1):c.955A>C (p.Ile319Leu)
|
rs1486730461
|
|
NM_004360.5(CDH1):c.955A>G (p.Ile319Val)
|
rs1486730461
|
|
NM_004360.5(CDH1):c.958A>G (p.Asn320Asp)
|
|
|
NM_004360.5(CDH1):c.959A>T (p.Asn320Ile)
|
|
|
NM_004360.5(CDH1):c.961A>G (p.Arg321Gly)
|
rs1555515649
|
|
NM_004360.5(CDH1):c.963G>C (p.Arg321Ser)
|
rs1060501231
|
|
NM_004360.5(CDH1):c.963G>T (p.Arg321Ser)
|
|
|
NM_004360.5(CDH1):c.965A>C (p.Asn322Thr)
|
|
|
NM_004360.5(CDH1):c.965A>G (p.Asn322Ser)
|
rs876661274
|
|
NM_004360.5(CDH1):c.966C>G (p.Asn322Lys)
|
|
|
NM_004360.5(CDH1):c.968C>T (p.Thr323Ile)
|
rs1487750656
|
|
NM_004360.5(CDH1):c.971G>A (p.Gly324Glu)
|
rs1060501232
|
|
NM_004360.5(CDH1):c.971G>C (p.Gly324Ala)
|
rs1060501232
|
|
NM_004360.5(CDH1):c.973G>T (p.Val325Phe)
|
rs1597894244
|
|
NM_004360.5(CDH1):c.974T>C (p.Val325Ala)
|
rs2152132111
|
|
NM_004360.5(CDH1):c.976A>G (p.Ile326Val)
|
rs1567506764
|
|
NM_004360.5(CDH1):c.977T>A (p.Ile326Asn)
|
|
|
NM_004360.5(CDH1):c.980G>A (p.Ser327Asn)
|
|
|
NM_004360.5(CDH1):c.980G>T (p.Ser327Ile)
|
rs587781778
|
|
NM_004360.5(CDH1):c.981T>G (p.Ser327Arg)
|
rs1567506772
|
|
NM_004360.5(CDH1):c.982G>A (p.Val328Met)
|
rs754228872
|
|
NM_004360.5(CDH1):c.983T>C (p.Val328Ala)
|
rs1597894276
|
|
NM_004360.5(CDH1):c.985G>T (p.Val329Phe)
|
rs1597894279
|
|
NM_004360.5(CDH1):c.989C>T (p.Thr330Ile)
|
rs755371143
|
|
NM_004360.5(CDH1):c.98A>T (p.Asp33Val)
|
rs1597838602
|
|
NM_004360.5(CDH1):c.991A>T (p.Thr331Ser)
|
rs1960843471
|
|
NM_004360.5(CDH1):c.992C>A (p.Thr331Asn)
|
rs1597894293
|
|
NM_004360.5(CDH1):c.994G>T (p.Gly332Trp)
|
rs587781759
|
|
NM_004360.5(CDH1):c.995G>C (p.Gly332Ala)
|
|
|
NM_004360.5(CDH1):c.995G>T (p.Gly332Val)
|
rs1597894308
|
|
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
|
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs)
|
rs768265778
|
|
NM_004655.4(AXIN2):c.1008A>C (p.Glu336Asp)
|
rs1598104258
|
|
NM_004655.4(AXIN2):c.100C>G (p.Pro34Ala)
|
rs574154714
|
|
NM_004655.4(AXIN2):c.1040T>C (p.Val347Ala)
|
|
|
NM_004655.4(AXIN2):c.1042T>C (p.Ser348Pro)
|
|
|
NM_004655.4(AXIN2):c.1049C>T (p.Pro350Leu)
|
rs1434576661
|
|
NM_004655.4(AXIN2):c.1069C>T (p.Arg357Cys)
|
rs755884266
|
|
NM_004655.4(AXIN2):c.1127C>T (p.Ser376Leu)
|
rs772908702
|
|
NM_004655.4(AXIN2):c.112_120del (p.Pro38_Val40del)
|
rs775217472
|
|
NM_004655.4(AXIN2):c.1145A>C (p.Lys382Thr)
|
rs878854717
|
|
NM_004655.4(AXIN2):c.1160G>A (p.Ser387Asn)
|
rs2043979107
|
|
NM_004655.4(AXIN2):c.1162C>T (p.Arg388Cys)
|
rs886053273
|
|
NM_004655.4(AXIN2):c.118G>A (p.Val40Met)
|
rs1555583743
|
|
NM_004655.4(AXIN2):c.1200+3A>G
|
rs1248714399
|
|
NM_004655.4(AXIN2):c.1200G>A (p.Glu400=)
|
rs772748458
|
|
NM_004655.4(AXIN2):c.1202A>G (p.Asp401Gly)
|
rs772221969
|
|
NM_004655.4(AXIN2):c.1207_1209del (p.Glu403del)
|
rs1064793048
|
|
NM_004655.4(AXIN2):c.1229C>T (p.Thr410Ile)
|
rs1555578117
|
|
NM_004655.4(AXIN2):c.1256C>G (p.Thr419Arg)
|
|
|
NM_004655.4(AXIN2):c.1399C>G (p.Pro467Ala)
|
|
|
NM_004655.4(AXIN2):c.1415A>G (p.His472Arg)
|
rs749012756
|
|
NM_004655.4(AXIN2):c.1496T>G (p.Leu499Arg)
|
|
|
NM_004655.4(AXIN2):c.14T>A (p.Met5Lys)
|
rs730881397
|
|
NM_004655.4(AXIN2):c.14T>G (p.Met5Arg)
|
rs730881397
|
|
NM_004655.4(AXIN2):c.1504G>T (p.Gly502Cys)
|
rs978541876
|
|
NM_004655.4(AXIN2):c.1505G>A (p.Gly502Asp)
|
|
|
NM_004655.4(AXIN2):c.1516G>A (p.Val506Met)
|
rs1250017056
|
|
NM_004655.4(AXIN2):c.1528A>G (p.Thr510Ala)
|
rs1598098899
|
|
NM_004655.4(AXIN2):c.1555A>C (p.Ile519Leu)
|
rs146769008
|
|
NM_004655.4(AXIN2):c.1601A>G (p.Glu534Gly)
|
|
|
NM_004655.4(AXIN2):c.1620C>G (p.His540Gln)
|
rs900138742
|
|
NM_004655.4(AXIN2):c.1633G>A (p.Gly545Arg)
|
rs148951121
|
|
NM_004655.4(AXIN2):c.1634G>C (p.Gly545Ala)
|
|
|
NM_004655.4(AXIN2):c.166A>G (p.Arg56Gly)
|
|
|
NM_004655.4(AXIN2):c.1676C>G (p.Ser559Cys)
|
rs1060502126
|
|
NM_004655.4(AXIN2):c.167G>A (p.Arg56Lys)
|
rs1567769454
|
|
NM_004655.4(AXIN2):c.1709T>C (p.Phe570Ser)
|
|
|
NM_004655.4(AXIN2):c.1730C>A (p.Thr577Asn)
|
rs760939811
|
|
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp)
|
rs567511335
|
|
NM_004655.4(AXIN2):c.1759G>A (p.Glu587Lys)
|
rs1344107562
|
|
NM_004655.4(AXIN2):c.1783A>G (p.Arg595Gly)
|
rs1555577433
|
|
NM_004655.4(AXIN2):c.1786G>A (p.Glu596Lys)
|
rs2043935287
|
|
NM_004655.4(AXIN2):c.1795G>T (p.Ala599Ser)
|
rs1060502129
|
|
NM_004655.4(AXIN2):c.1825C>T (p.Pro609Ser)
|
rs1389567952
|
|
NM_004655.4(AXIN2):c.1828C>T (p.Arg610Trp)
|
rs776445861
|
|
NM_004655.4(AXIN2):c.1874A>C (p.Glu625Ala)
|
rs1460236827
|
|
NM_004655.4(AXIN2):c.1883G>A (p.Arg628Gln)
|
rs2043931823
|
|
NM_004655.4(AXIN2):c.1894C>T (p.Pro632Ser)
|
|
|
NM_004655.4(AXIN2):c.1934C>T (p.Pro645Leu)
|
rs730881405
|
|
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp)
|
rs74006838
|
|
NM_004655.4(AXIN2):c.1967G>A (p.Arg656Gln)
|
rs1555577180
|
|
NM_004655.4(AXIN2):c.1974C>G (p.Ser658Arg)
|
rs751216221
|
|
NM_004655.4(AXIN2):c.2047C>G (p.Pro683Ala)
|
rs1598096797
|
|
NM_004655.4(AXIN2):c.2048C>T (p.Pro683Leu)
|
rs1555577092
|
|
NM_004655.4(AXIN2):c.2050G>A (p.Ala684Thr)
|
rs1393284650
|
|
NM_004655.4(AXIN2):c.2102G>C (p.Cys701Ser)
|
rs1060502130
|
|
NM_004655.4(AXIN2):c.2117A>G (p.Glu706Gly)
|
rs1598096605
|
|
NM_004655.4(AXIN2):c.2206C>A (p.Pro736Thr)
|
rs951676348
|
|
NM_004655.4(AXIN2):c.2223C>G (p.Ser741Arg)
|
rs1002755638
|
|
NM_004655.4(AXIN2):c.2236G>T (p.Asp746Tyr)
|
|
|
NM_004655.4(AXIN2):c.2302T>C (p.Tyr768His)
|
rs750962952
|
|
NM_004655.4(AXIN2):c.232T>G (p.Trp78Gly)
|
|
|
NM_004655.4(AXIN2):c.2383C>G (p.Leu795Val)
|
rs2043865311
|
|
NM_004655.4(AXIN2):c.2427C>A (p.Ser809Arg)
|
|
|
NM_004655.4(AXIN2):c.2437G>A (p.Ala813Thr)
|
rs372420075
|
|
NM_004655.4(AXIN2):c.2489T>G (p.Met830Arg)
|
|
|
NM_004655.4(AXIN2):c.2527G>A (p.Asp843Asn)
|
rs1249731868
|
|
NM_004655.4(AXIN2):c.349T>G (p.Phe117Val)
|
|
|
NM_004655.4(AXIN2):c.34G>T (p.Asp12Tyr)
|
rs1064793821
|
|
NM_004655.4(AXIN2):c.368A>C (p.Lys123Thr)
|
rs2044303118
|
|
NM_004655.4(AXIN2):c.369G>T (p.Lys123Asn)
|
|
|
NM_004655.4(AXIN2):c.426C>G (p.Asn142Lys)
|
rs1322519354
|
|
NM_004655.4(AXIN2):c.440A>G (p.Lys147Arg)
|
rs1567768991
|
|
NM_004655.4(AXIN2):c.45C>A (p.Ser15Arg)
|
|
|
NM_004655.4(AXIN2):c.47G>A (p.Ser16Asn)
|
|
|
NM_004655.4(AXIN2):c.503C>T (p.Ser168Phe)
|
|
|
NM_004655.4(AXIN2):c.575C>G (p.Thr192Ser)
|
|
|
NM_004655.4(AXIN2):c.590T>A (p.Leu197His)
|
|
|
NM_004655.4(AXIN2):c.590T>G (p.Leu197Arg)
|
rs2044297524
|
|
NM_004655.4(AXIN2):c.593A>C (p.Glu198Ala)
|
rs1555583360
|
|
NM_004655.4(AXIN2):c.605G>T (p.Ser202Ile)
|
|
|
NM_004655.4(AXIN2):c.608G>C (p.Gly203Ala)
|
rs1555583340
|
|
NM_004655.4(AXIN2):c.646G>A (p.Gly216Arg)
|
rs1555583315
|
|
NM_004655.4(AXIN2):c.667G>A (p.Gly223Ser)
|
rs878854733
|
|
NM_004655.4(AXIN2):c.686A>G (p.Asn229Ser)
|
rs764704332
|
|
NM_004655.4(AXIN2):c.739G>A (p.Val247Met)
|
rs755206242
|
|
NM_004655.4(AXIN2):c.742G>T (p.Val248Phe)
|
|
|
NM_004655.4(AXIN2):c.766A>G (p.Arg256Gly)
|
|
|
NM_004655.4(AXIN2):c.794A>C (p.Glu265Ala)
|
rs2044291927
|
|
NM_004655.4(AXIN2):c.796A>G (p.Thr266Ala)
|
rs1555583178
|
|
NM_004655.4(AXIN2):c.826A>G (p.Arg276Gly)
|
|
|
NM_004655.4(AXIN2):c.875C>T (p.Ala292Val)
|
|
|
NM_004655.4(AXIN2):c.907T>A (p.Ser303Thr)
|
|
|
NM_004655.4(AXIN2):c.952A>G (p.Ser318Gly)
|
rs1555581191
|
|
NM_004655.4(AXIN2):c.958G>C (p.Asp320His)
|
rs1060502136
|
|
NM_004655.4(AXIN2):c.986G>A (p.Ser329Asn)
|
rs774353403
|
|
NM_004655.4(AXIN2):c.994C>A (p.Gln332Lys)
|
rs1020958689
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser)
|
rs199605381
|
|
NM_004817.4(TJP2):c.2667+3A>G
|
|
|
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)
|
rs746080083
|
|
NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly)
|
rs1057524886
|
|
NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro)
|
rs1947669606
|
|
NM_004963.4(GUCY2C):c.1798G>A (p.Gly600Arg)
|
rs777943137
|
|
NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)
|
rs562942379
|
|
NM_004963.4(GUCY2C):c.2356T>C (p.Tyr786His)
|
rs2136990175
|
|
NM_004963.4(GUCY2C):c.367T>A (p.Ser123Thr)
|
|
|
NM_004972.4(JAK2):c.*1288_*1289insGT
|
rs1057515597
|
|
NM_004972.4(JAK2):c.*1291GT[19]
|
rs139964957
|
|
NM_004972.4(JAK2):c.*1291GT[23]
|
rs139964957
|
|
NM_004972.4(JAK2):c.*1388_*1392dup
|
rs1038207109
|
|
NM_004972.4(JAK2):c.*91TAT[1]
|
rs1057515594
|
|
NM_004972.4(JAK2):c.-138C>T
|
rs1057515590
|
|
NM_004972.4(JAK2):c.2762-10_2762-9del
|
rs529050943
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005215.4(DCC):c.371C>T (p.Ser124Phe)
|
rs2037008530
|
|
NM_005215.4(DCC):c.3872G>A (p.Arg1291Gln)
|
rs768577706
|
|
NM_005215.4(DCC):c.4028G>A (p.Arg1343His)
|
rs149118168
|
|
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)
|
rs2128933753
|
|
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly)
|
rs924843423
|
|
NM_005264.8(GFRA1):c.1A>T (p.Met1Leu)
|
rs1589930581
|
|
NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro)
|
rs863223332
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
NM_005271.5(GLUD1):c.-44C>T
|
rs886047379
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
|
|
|
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
NM_005271.5(GLUD1):c.1279-3T>C
|
rs1845868081
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
|
|
|
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
|
|
|
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
|
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)
|
rs2133874774
|
|
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
|
|
|
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
|
rs1294286511
|
|
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)
|
rs2133873984
|
|
NM_005271.5(GLUD1):c.446-5634T>C
|
rs1841280208
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)
|
rs886047377
|
|
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
|
|
|
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
NM_005276.4(GPD1):c.34G>A (p.Gly12Arg)
|
rs776284291
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
NM_005276.4(GPD1):c.666C>G (p.Asn222Lys)
|
|
|
NM_005276.4(GPD1):c.905C>G (p.Thr302Arg)
|
|
|
NM_005276.4(GPD1):c.991G>A (p.Glu331Lys)
|
rs962948404
|
|
NM_005327.4(HADH):c.-195A>C
|
rs886058979
|
|
NM_005327.4(HADH):c.-195A>G
|
rs886058979
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
NM_005327.7(HADH):c.21G>A (p.Gln7=)
|
rs886058980
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
NM_005327.7(HADH):c.710-822C>A
|
rs183387994
|
|
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
|
rs746680125
|
|
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
|
rs1736337186
|
|
NM_005327.7(HADH):c.740C>T (p.Ala247Val)
|
rs1736337431
|
|
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs)
|
rs1568211617
|
|
NM_005359.6(SMAD4):c.*1036C>G
|
rs1910555271
|
|
NM_005359.6(SMAD4):c.*1141A>G
|
rs1910558915
|
|
NM_005359.6(SMAD4):c.*1177G>A
|
rs886053899
|
|
NM_005359.6(SMAD4):c.*1502T>C
|
rs1224074483
|
|
NM_005359.6(SMAD4):c.*1512dup
|
rs755827115
|
|
NM_005359.6(SMAD4):c.*1513A>T
|
rs75142398
|
|
NM_005359.6(SMAD4):c.*1564_*1567del
|
rs886053903
|
|
NM_005359.6(SMAD4):c.*1801A>G
|
rs886053904
|
|
NM_005359.6(SMAD4):c.*2099G>A
|
rs1037211183
|
|
NM_005359.6(SMAD4):c.*2215C>T
|
rs1035348290
|
|
NM_005359.6(SMAD4):c.*241T>C
|
rs886053896
|
|
NM_005359.6(SMAD4):c.*2461C>T
|
rs886053906
|
|
NM_005359.6(SMAD4):c.*2561G>C
|
rs1910600689
|
|
NM_005359.6(SMAD4):c.*2674A>G
|
rs886053907
|
|
NM_005359.6(SMAD4):c.*2707_*2711del
|
rs769541605
|
|
NM_005359.6(SMAD4):c.*2941A>G
|
rs1419101937
|
|
NM_005359.6(SMAD4):c.*3109T>A
|
rs886053910
|
|
NM_005359.6(SMAD4):c.*3109T>C
|
rs886053910
|
|
NM_005359.6(SMAD4):c.*3226G>C
|
rs528878031
|
|
NM_005359.6(SMAD4):c.*3286A>T
|
rs886053912
|
|
NM_005359.6(SMAD4):c.*3638T>G
|
rs886053914
|
|
NM_005359.6(SMAD4):c.*3679A>G
|
rs1910625936
|
|
NM_005359.6(SMAD4):c.*3746A>C
|
rs1910627143
|
|
NM_005359.6(SMAD4):c.*3950A>G
|
rs1910632230
|
|
NM_005359.6(SMAD4):c.*4085C>A
|
rs886053917
|
|
NM_005359.6(SMAD4):c.*4987T>C
|
rs188228460
|
|
NM_005359.6(SMAD4):c.*4991dup
|
rs886053919
|
|
NM_005359.6(SMAD4):c.*5004_*5005dup
|
rs113155703
|
|
NM_005359.6(SMAD4):c.*5530T>C
|
rs886053921
|
|
NM_005359.6(SMAD4):c.*5535_*5540del
|
rs147193925
|
|
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA
|
rs886053923
|
|
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG
|
rs886053924
|
|
NM_005359.6(SMAD4):c.*5535_*5549delinsG
|
rs886053925
|
|
NM_005359.6(SMAD4):c.*5537GC[4]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5537GC[7]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5546CA[13]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[14]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[15]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[17]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[20]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[23]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5609T>G
|
rs1910688039
|
|
NM_005359.6(SMAD4):c.*5631A>G
|
rs1046084651
|
|
NM_005359.6(SMAD4):c.*5710T>A
|
rs1910691490
|
|
NM_005359.6(SMAD4):c.*5757dup
|
rs886053931
|
|
NM_005359.6(SMAD4):c.*5791C>T
|
rs886053932
|
|
NM_005359.6(SMAD4):c.*5874C>T
|
rs886053933
|
|
NM_005359.6(SMAD4):c.*6057G>T
|
rs886053935
|
|
NM_005359.6(SMAD4):c.*6158GATT[1]
|
rs886053936
|
|
NM_005359.6(SMAD4):c.*704G>C
|
rs964306349
|
|
NM_005359.6(SMAD4):c.*745C>T
|
rs1910546788
|
|
NM_005359.6(SMAD4):c.*936A>G
|
rs1910552244
|
|
NM_005359.6(SMAD4):c.-233G>C
|
rs886053890
|
|
NM_005359.6(SMAD4):c.-313C>A
|
rs886053889
|
|
NM_005359.6(SMAD4):c.-3C>A
|
rs886053892
|
|
NM_005359.6(SMAD4):c.-400C>A
|
rs1410779875
|
|
NM_005359.6(SMAD4):c.-476C>A
|
rs886053887
|
|
NM_005359.6(SMAD4):c.-506ACA[1]
|
rs886053885
|
|
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs)
|
rs2144400060
|
|
NM_005359.6(SMAD4):c.-69G>A
|
rs772186355
|
|
NM_005359.6(SMAD4):c.1001A>G (p.Gln334Arg)
|
|
|
NM_005359.6(SMAD4):c.1002G>C (p.Gln334His)
|
rs773598775
|
|
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His)
|
rs773598775
|
|
NM_005359.6(SMAD4):c.1007G>A (p.Gly336Glu)
|
rs1060500732
|
|
NM_005359.6(SMAD4):c.1013C>G (p.Thr338Arg)
|
rs2144446765
|
|
NM_005359.6(SMAD4):c.1018A>G (p.Lys340Glu)
|
rs1599195392
|
|
NM_005359.6(SMAD4):c.1025C>T (p.Pro342Leu)
|
rs2144446883
|
|
NM_005359.6(SMAD4):c.1030A>G (p.Ser344Gly)
|
rs1568208203
|
|
NM_005359.6(SMAD4):c.1034G>C (p.Cys345Ser)
|
rs2144446938
|
|
NM_005359.6(SMAD4):c.1036C>A (p.Pro346Thr)
|
|
|
NM_005359.6(SMAD4):c.1036C>G (p.Pro346Ala)
|
rs2144446966
|
|
NM_005359.6(SMAD4):c.1037C>G (p.Pro346Arg)
|
rs1910122147
|
|
NM_005359.6(SMAD4):c.1041T>G (p.Ile347Met)
|
rs905881679
|
|
NM_005359.6(SMAD4):c.1042G>A (p.Val348Ile)
|
rs1910122648
|
|
NM_005359.6(SMAD4):c.1049T>C (p.Val350Ala)
|
|
|
NM_005359.6(SMAD4):c.104T>A (p.Phe35Tyr)
|
rs786202127
|
|
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val)
|
rs1060500741
|
|
NM_005359.6(SMAD4):c.1058A>T (p.Tyr353Phe)
|
|
|
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met)
|
rs1910123378
|
|
NM_005359.6(SMAD4):c.1063G>A (p.Asp355Asn)
|
|
|
NM_005359.6(SMAD4):c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG (p.Asp355delinsGlyProPheTrpArgArgSerLeuLeuPheGlySerThrLeuGlnCysProGlnAspArgSerHisTer)
|
rs1599195477
|
|
NM_005359.6(SMAD4):c.1069T>C (p.Ser357Pro)
|
|
|
NM_005359.6(SMAD4):c.1070C>T (p.Ser357Phe)
|
rs2144447300
|
|
NM_005359.6(SMAD4):c.1072G>A (p.Gly358Arg)
|
rs121912576
|
|
NM_005359.6(SMAD4):c.1075G>C (p.Gly359Arg)
|
rs1555686486
|
|
NM_005359.6(SMAD4):c.1078G>C (p.Asp360His)
|
rs1910123913
|
|
NM_005359.6(SMAD4):c.1091T>C (p.Leu364Ser)
|
|
|
NM_005359.6(SMAD4):c.1103C>T (p.Ser368Phe)
|
rs1910125223
|
|
NM_005359.6(SMAD4):c.1112A>G (p.His371Arg)
|
rs1910125636
|
|
NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile)
|
|
|
NM_005359.6(SMAD4):c.1123G>A (p.Ala375Thr)
|
|
|
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val)
|
rs1555686501
|
|
NM_005359.6(SMAD4):c.1127T>C (p.Ile376Thr)
|
|
|
NM_005359.6(SMAD4):c.1138A>T (p.Arg380Trp)
|
rs1568208291
|
|
NM_005359.6(SMAD4):c.1139+1_1139+4dup
|
|
|
NM_005359.6(SMAD4):c.1139+3A>G
|
rs786202607
|
|
NM_005359.6(SMAD4):c.1139+9T>G
|
|
|
NM_005359.6(SMAD4):c.1140-3A>T
|
|
|
NM_005359.6(SMAD4):c.1145A>C (p.His382Pro)
|
|
|
NM_005359.6(SMAD4):c.1154A>C (p.Lys385Thr)
|
rs923348055
|
|
NM_005359.6(SMAD4):c.1154A>G (p.Lys385Arg)
|
rs923348055
|
|
NM_005359.6(SMAD4):c.1159G>A (p.Val387Met)
|
rs1010877617
|
|
NM_005359.6(SMAD4):c.1171T>C (p.Cys391Arg)
|
|
|
NM_005359.6(SMAD4):c.1172G>A (p.Cys391Tyr)
|
rs2144451919
|
|
NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg)
|
rs2144451986
|
|
NM_005359.6(SMAD4):c.1186G>A (p.Asp396Asn)
|
rs2144452017
|
|
NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile)
|
rs2144452046
|
|
NM_005359.6(SMAD4):c.118A>G (p.Ile40Val)
|
rs878854764
|
|
NM_005359.6(SMAD4):c.1196T>A (p.Val399Asp)
|
rs1910180431
|
|
NM_005359.6(SMAD4):c.1198A>G (p.Arg400Gly)
|
rs1910180511
|
|
NM_005359.6(SMAD4):c.11T>C (p.Met4Thr)
|
rs2144400196
|
|
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser)
|
rs876658516
|
|
NM_005359.6(SMAD4):c.1201T>C (p.Cys401Arg)
|
rs1910180767
|
|
NM_005359.6(SMAD4):c.1204C>A (p.Leu402Ile)
|
|
|
NM_005359.6(SMAD4):c.1207A>G (p.Ser403Gly)
|
rs2144452187
|
|
NM_005359.6(SMAD4):c.1212C>A (p.Asp404Glu)
|
|
|
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val)
|
rs1064796102
|
|
NM_005359.6(SMAD4):c.1226T>C (p.Val409Ala)
|
rs1555686607
|
|
NM_005359.6(SMAD4):c.1232G>A (p.Ser411Asn)
|
rs2144452401
|
|
NM_005359.6(SMAD4):c.1237T>G (p.Tyr413Asp)
|
rs1910182791
|
|
NM_005359.6(SMAD4):c.1253C>T (p.Ala418Val)
|
rs2144452596
|
|
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys)
|
rs1367209662
|
|
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His)
|
rs1064793725
|
|
NM_005359.6(SMAD4):c.125G>A (p.Ser42Asn)
|
rs1909568796
|
|
NM_005359.6(SMAD4):c.1262C>T (p.Ala421Val)
|
|
|
NM_005359.6(SMAD4):c.1264C>T (p.Pro422Ser)
|
|
|
NM_005359.6(SMAD4):c.1276G>A (p.Val426Ile)
|
rs1555686617
|
|
NM_005359.6(SMAD4):c.127T>G (p.Leu43Val)
|
rs863224731
|
|
NM_005359.6(SMAD4):c.1283A>G (p.Lys428Arg)
|
rs1555686620
|
|
NM_005359.6(SMAD4):c.1285A>C (p.Ile429Leu)
|
rs2144452793
|
|
NM_005359.6(SMAD4):c.1285A>G (p.Ile429Val)
|
rs2144452793
|
|
NM_005359.6(SMAD4):c.1287C>G (p.Ile429Met)
|
rs1555686621
|
|
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn)
|
rs770301659
|
|
NM_005359.6(SMAD4):c.1300T>A (p.Tyr434Asn)
|
|
|
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys)
|
rs780610518
|
|
NM_005359.6(SMAD4):c.1305A>G (p.Ile435Met)
|
|
|
NM_005359.6(SMAD4):c.1307A>C (p.Lys436Thr)
|
|
|
NM_005359.6(SMAD4):c.1308+4A>T
|
rs1555686626
|
|
NM_005359.6(SMAD4):c.1308+5_1308+11del
|
|
|
NM_005359.6(SMAD4):c.1309-17A>G
|
|
|
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)
|
rs1568211172
|
|
NM_005359.6(SMAD4):c.130G>T (p.Val44Leu)
|
|
|
NM_005359.6(SMAD4):c.131T>C (p.Val44Ala)
|
rs2144401151
|
|
NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys)
|
rs1599204052
|
|
NM_005359.6(SMAD4):c.1322G>A (p.Arg441His)
|
rs1599204057
|
|
NM_005359.6(SMAD4):c.1326G>C (p.Gln442His)
|
rs1568211178
|
|
NM_005359.6(SMAD4):c.1327T>G (p.Cys443Gly)
|
|
|
NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln)
|
|
|
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)
|
rs1568211184
|
|
NM_005359.6(SMAD4):c.1339A>T (p.Met447Leu)
|
rs1568211184
|
|
NM_005359.6(SMAD4):c.1342C>A (p.Gln448Lys)
|
rs377767361
|
|
NM_005359.6(SMAD4):c.1342C>G (p.Gln448Glu)
|
rs377767361
|
|
NM_005359.6(SMAD4):c.1343A>G (p.Gln448Arg)
|
|
|
NM_005359.6(SMAD4):c.1346A>G (p.Gln449Arg)
|
|
|
NM_005359.6(SMAD4):c.1352C>A (p.Ala451Glu)
|
rs1275841831
|
|
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val)
|
rs1275841831
|
|
NM_005359.6(SMAD4):c.1355C>T (p.Ala452Val)
|
rs2144473900
|
|
NM_005359.6(SMAD4):c.1357A>G (p.Thr453Ala)
|
|
|
NM_005359.6(SMAD4):c.1366G>A (p.Ala456Thr)
|
|
|
NM_005359.6(SMAD4):c.1372G>A (p.Ala458Thr)
|
|
|
NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr)
|
rs1910479958
|
|
NM_005359.6(SMAD4):c.1385C>T (p.Ala462Val)
|
rs2144474198
|
|
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu)
|
rs786201798
|
|
NM_005359.6(SMAD4):c.1396G>A (p.Ala466Thr)
|
rs2144474300
|
|
NM_005359.6(SMAD4):c.1403A>G (p.Asn468Ser)
|
rs569981255
|
|
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val)
|
rs876658851
|
|
NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr)
|
|
|
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg)
|
rs1599204186
|
|
NM_005359.6(SMAD4):c.1411G>A (p.Gly471Ser)
|
rs2144474442
|
|
NM_005359.6(SMAD4):c.1414C>G (p.Pro472Ala)
|
rs1169893474
|
|
NM_005359.6(SMAD4):c.1415C>T (p.Pro472Leu)
|
rs2144474506
|
|
NM_005359.6(SMAD4):c.1420T>A (p.Ser474Thr)
|
|
|
NM_005359.6(SMAD4):c.1423G>C (p.Val475Leu)
|
rs864622428
|
|
NM_005359.6(SMAD4):c.1432A>G (p.Ile478Val)
|
rs2144474631
|
|
NM_005359.6(SMAD4):c.1438C>T (p.Pro480Ser)
|
rs1555687390
|
|
NM_005359.6(SMAD4):c.143A>G (p.Lys48Arg)
|
rs2144401230
|
|
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val)
|
rs864622736
|
|
NM_005359.6(SMAD4):c.1447+15C>A
|
rs1910484768
|
|
NM_005359.6(SMAD4):c.1447+3A>T
|
rs754526507
|
|
NM_005359.6(SMAD4):c.1447+4A>G
|
rs778631062
|
|
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly)
|
rs1910483270
|
|
NM_005359.6(SMAD4):c.1448-1G>A
|
rs1910517904
|
|
NM_005359.6(SMAD4):c.1448-2A>G
|
|
|
NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn)
|
rs786204060
|
|
NM_005359.6(SMAD4):c.1449T>G (p.Ser483Arg)
|
rs745598003
|
|
NM_005359.6(SMAD4):c.1450C>G (p.Leu484Val)
|
|
|
NM_005359.6(SMAD4):c.1468A>G (p.Ile490Val)
|
|
|
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del)
|
rs1910518741
|
|
NM_005359.6(SMAD4):c.147G>C (p.Glu49Asp)
|
rs1555685024
|
|
NM_005359.6(SMAD4):c.1480G>T (p.Asp494Tyr)
|
|
|
NM_005359.6(SMAD4):c.1487G>A (p.Arg496His)
|
rs876660045
|
|
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys)
|
rs762118751
|
|
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His)
|
rs1910519516
|
|
NM_005359.6(SMAD4):c.1498A>C (p.Ile500Leu)
|
|
|
NM_005359.6(SMAD4):c.1505G>A (p.Arg502Lys)
|
rs1910520541
|
|
NM_005359.6(SMAD4):c.1507A>T (p.Met503Leu)
|
rs1426800709
|
|
NM_005359.6(SMAD4):c.1516G>A (p.Val506Met)
|
rs1060500746
|
|
NM_005359.6(SMAD4):c.1529G>A (p.Gly510Glu)
|
rs377767371
|
|
NM_005359.6(SMAD4):c.1534G>A (p.Asp512Asn)
|
rs1555687578
|
|
NM_005359.6(SMAD4):c.1537T>A (p.Tyr513Asn)
|
|
|
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)
|
rs1910522327
|
|
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)
|
rs760840557
|
|
NM_005359.6(SMAD4):c.1547A>G (p.Gln516Arg)
|
rs786202496
|
|
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn)
|
rs1910523061
|
|
NM_005359.6(SMAD4):c.1552A>G (p.Ile518Val)
|
rs2144478923
|
|
NM_005359.6(SMAD4):c.1558G>C (p.Glu520Gln)
|
rs1599205419
|
|
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)
|
rs1057524809
|
|
NM_005359.6(SMAD4):c.1562C>T (p.Thr521Ile)
|
rs876659840
|
|
NM_005359.6(SMAD4):c.1564C>A (p.Pro522Thr)
|
|
|
NM_005359.6(SMAD4):c.1565C>T (p.Pro522Leu)
|
rs1910523687
|
|
NM_005359.6(SMAD4):c.156T>G (p.Asp52Glu)
|
|
|
NM_005359.6(SMAD4):c.1570T>C (p.Trp524Arg)
|
rs1910523788
|
|
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr)
|
rs1304558237
|
|
NM_005359.6(SMAD4):c.1578A>C (p.Glu526Asp)
|
|
|
NM_005359.6(SMAD4):c.1579A>G (p.Ile527Val)
|
rs2144479148
|
|
NM_005359.6(SMAD4):c.1580T>C (p.Ile527Thr)
|
rs2144479158
|
|
NM_005359.6(SMAD4):c.1583A>G (p.His528Arg)
|
|
|
NM_005359.6(SMAD4):c.1585_1590del (p.Leu529_His530del)
|
|
|
NM_005359.6(SMAD4):c.1587A>C (p.Leu529Phe)
|
rs2144479233
|
|
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln)
|
rs935557677
|
|
NM_005359.6(SMAD4):c.1591C>G (p.Arg531Gly)
|
|
|
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp)
|
rs766833269
|
|
NM_005359.6(SMAD4):c.1592G>A (p.Arg531Gln)
|
rs1910524938
|
|
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp)
|
rs1568211604
|
|
NM_005359.6(SMAD4):c.1597C>T (p.Leu533Phe)
|
rs377767381
|
|
NM_005359.6(SMAD4):c.1599_1607del (p.Gln534_Leu536del)
|
rs1910525515
|
|
NM_005359.6(SMAD4):c.1604_1605delinsAA (p.Leu535Gln)
|
rs1599205540
|
|
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly)
|
rs1555687605
|
|
NM_005359.6(SMAD4):c.1610A>T (p.Asp537Val)
|
rs1555687605
|
|
NM_005359.6(SMAD4):c.1612G>A (p.Glu538Lys)
|
rs1568211615
|
|
NM_005359.6(SMAD4):c.1622A>T (p.His541Leu)
|
|
|
NM_005359.6(SMAD4):c.1627A>G (p.Met543Val)
|
rs1910526541
|
|
NM_005359.6(SMAD4):c.1627A>T (p.Met543Leu)
|
rs1910526541
|
|
NM_005359.6(SMAD4):c.1628T>C (p.Met543Thr)
|
|
|
NM_005359.6(SMAD4):c.1628T>G (p.Met543Arg)
|
rs1910526613
|
|
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)
|
rs1910526660
|
|
NM_005359.6(SMAD4):c.1630C>T (p.Pro544Ser)
|
|
|
NM_005359.6(SMAD4):c.1631C>T (p.Pro544Leu)
|
|
|
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)
|
rs549489716
|
|
NM_005359.6(SMAD4):c.1633A>G (p.Ile545Val)
|
rs1910527259
|
|
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn)
|
rs730881955
|
|
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met)
|
rs200595795
|
|
NM_005359.6(SMAD4):c.1637C>T (p.Ala546Val)
|
rs1910527468
|
|
NM_005359.6(SMAD4):c.1642C>T (p.Pro548Ser)
|
rs876658866
|
|
NM_005359.6(SMAD4):c.1643C>G (p.Pro548Arg)
|
rs2144479765
|
|
NM_005359.6(SMAD4):c.1645C>T (p.Gln549Ter)
|
rs1555687613
|
|
NM_005359.6(SMAD4):c.1646A>G (p.Gln549Arg)
|
rs2144479787
|
|
NM_005359.6(SMAD4):c.1647A>C (p.Gln549His)
|
rs113545983
|
|
NM_005359.6(SMAD4):c.1647del (p.Gln549fs)
|
rs1555687615
|
|
NM_005359.6(SMAD4):c.1648C>T (p.Pro550Ser)
|
rs1599205642
|
|
NM_005359.6(SMAD4):c.1649C>T (p.Pro550Leu)
|
|
|
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)
|
rs1064793950
|
|
NM_005359.6(SMAD4):c.1658G>C (p.Ter553Ser)
|
rs2144479903
|
|
NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala)
|
|
|
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val)
|
rs1376500870
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala)
|
rs587781977
|
|
NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr)
|
rs1599181007
|
|
NM_005359.6(SMAD4):c.181A>C (p.Ile61Leu)
|
rs1064794204
|
|
NM_005359.6(SMAD4):c.190A>G (p.Asn64Asp)
|
rs2144401550
|
|
NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser)
|
rs1909571462
|
|
NM_005359.6(SMAD4):c.196G>A (p.Ala66Thr)
|
rs1599181207
|
|
NM_005359.6(SMAD4):c.1A>G (p.Met1Val)
|
rs1064795777
|
|
NM_005359.6(SMAD4):c.203C>T (p.Pro68Leu)
|
rs1599181216
|
|
NM_005359.6(SMAD4):c.205A>G (p.Ser69Gly)
|
rs2144401674
|
|
NM_005359.6(SMAD4):c.209A>C (p.Lys70Thr)
|
rs1555685038
|
|
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg)
|
rs1555685038
|
|
NM_005359.6(SMAD4):c.20C>G (p.Thr7Arg)
|
rs372316981
|
|
NM_005359.6(SMAD4):c.210A>G (p.Lys70=)
|
|
|
NM_005359.6(SMAD4):c.212G>A (p.Cys71Tyr)
|
|
|
NM_005359.6(SMAD4):c.214G>A (p.Val72Ile)
|
|
|
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser)
|
rs876658568
|
|
NM_005359.6(SMAD4):c.240G>T (p.Gly80=)
|
rs1909572382
|
|
NM_005359.6(SMAD4):c.249+6T>A
|
rs1599181264
|
|
NM_005359.6(SMAD4):c.250-3T>C
|
rs1555685140
|
|
NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)
|
|
|
NM_005359.6(SMAD4):c.25A>G (p.Thr9Ala)
|
rs2144400315
|
|
NM_005359.6(SMAD4):c.260G>A (p.Arg87Gln)
|
|
|
NM_005359.6(SMAD4):c.260G>C (p.Arg87Pro)
|
rs1060500735
|
|
NM_005359.6(SMAD4):c.267A>T (p.Gly89=)
|
rs1599182401
|
|
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile)
|
rs1555684986
|
|
NM_005359.6(SMAD4):c.287C>T (p.Ala96Val)
|
rs2144405304
|
|
NM_005359.6(SMAD4):c.289C>T (p.Arg97Cys)
|
rs1555685158
|
|
NM_005359.6(SMAD4):c.290G>A (p.Arg97His)
|
rs1555685159
|
|
NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)
|
rs1555685159
|
|
NM_005359.6(SMAD4):c.292C>G (p.Leu98Val)
|
|
|
NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg)
|
|
|
NM_005359.6(SMAD4):c.29C>T (p.Pro10Leu)
|
rs1909566256
|
|
NM_005359.6(SMAD4):c.2T>C (p.Met1Thr)
|
|
|
NM_005359.6(SMAD4):c.31A>C (p.Thr11Pro)
|
|
|
NM_005359.6(SMAD4):c.31A>G (p.Thr11Ala)
|
rs587780791
|
|
NM_005359.6(SMAD4):c.323A>G (p.Glu108Gly)
|
|
|
NM_005359.6(SMAD4):c.326_331del (p.Leu109_Lys110del)
|
|
|
NM_005359.6(SMAD4):c.332A>G (p.His111Arg)
|
rs1064794363
|
|
NM_005359.6(SMAD4):c.340T>A (p.Tyr114Asn)
|
rs1555685170
|
|
NM_005359.6(SMAD4):c.340T>G (p.Tyr114Asp)
|
|
|
NM_005359.6(SMAD4):c.341A>G (p.Tyr114Cys)
|
rs2144405684
|
|
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val)
|
rs2144405775
|
|
NM_005359.6(SMAD4):c.358G>A (p.Asp120Asn)
|
|
|
NM_005359.6(SMAD4):c.358G>C (p.Asp120His)
|
rs1909621069
|
|
NM_005359.6(SMAD4):c.35G>A (p.Ser12Asn)
|
rs2144400408
|
|
NM_005359.6(SMAD4):c.360C>G (p.Asp120Glu)
|
rs1599182483
|
|
NM_005359.6(SMAD4):c.367T>C (p.Cys123Arg)
|
rs1568203472
|
|
NM_005359.6(SMAD4):c.371A>G (p.Asp124Gly)
|
|
|
NM_005359.6(SMAD4):c.375T>G (p.Ser125Arg)
|
rs863224401
|
|
NM_005359.6(SMAD4):c.377T>C (p.Val126Ala)
|
rs1909621949
|
|
NM_005359.6(SMAD4):c.37A>G (p.Asn13Asp)
|
rs1909566487
|
|
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr)
|
rs1555685182
|
|
NM_005359.6(SMAD4):c.386A>G (p.Asn129Ser)
|
|
|
NM_005359.6(SMAD4):c.394C>T (p.His132Tyr)
|
rs1060500743
|
|
NM_005359.6(SMAD4):c.397T>C (p.Tyr133His)
|
|
|
NM_005359.6(SMAD4):c.3G>A (p.Met1Ile)
|
rs973470216
|
|
NM_005359.6(SMAD4):c.3G>C (p.Met1Ile)
|
rs973470216
|
|
NM_005359.6(SMAD4):c.401A>G (p.Glu134Gly)
|
|
|
NM_005359.6(SMAD4):c.402A>C (p.Glu134Asp)
|
|
|
NM_005359.6(SMAD4):c.404G>T (p.Arg135Leu)
|
rs2144406204
|
|
NM_005359.6(SMAD4):c.406G>A (p.Val136Ile)
|
|
|
NM_005359.6(SMAD4):c.409G>A (p.Val137Ile)
|
rs1909623079
|
|
NM_005359.6(SMAD4):c.409G>C (p.Val137Leu)
|
rs1909623079
|
|
NM_005359.6(SMAD4):c.419G>C (p.Gly140Ala)
|
|
|
NM_005359.6(SMAD4):c.422T>C (p.Ile141Thr)
|
rs1599182596
|
|
NM_005359.6(SMAD4):c.424+3A>G
|
rs1909624249
|
|
NM_005359.6(SMAD4):c.425-16C>A
|
|
|
NM_005359.6(SMAD4):c.425-3A>G
|
rs1599182874
|
|
NM_005359.6(SMAD4):c.425-4T>G
|
rs2144407490
|
|
NM_005359.6(SMAD4):c.425-5T>G
|
rs1555685238
|
|
NM_005359.6(SMAD4):c.425A>G (p.Asp142Gly)
|
|
|
NM_005359.6(SMAD4):c.427C>T (p.Leu143Phe)
|
rs1568203595
|
|
NM_005359.6(SMAD4):c.428T>C (p.Leu143Pro)
|
|
|
NM_005359.6(SMAD4):c.43G>T (p.Ala15Ser)
|
|
|
NM_005359.6(SMAD4):c.445C>A (p.Gln149Lys)
|
rs1599182912
|
|
NM_005359.6(SMAD4):c.44C>T (p.Ala15Val)
|
|
|
NM_005359.6(SMAD4):c.451A>G (p.Asn151Asp)
|
rs1599182920
|
|
NM_005359.6(SMAD4):c.453T>A (p.Asn151Lys)
|
|
|
NM_005359.6(SMAD4):c.453T>C (p.Asn151=)
|
|
|
NM_005359.6(SMAD4):c.454+3A>G
|
rs2144407745
|
|
NM_005359.6(SMAD4):c.454+4G>A
|
rs1909638891
|
|
NM_005359.6(SMAD4):c.454G>A (p.Ala152Thr)
|
|
|
NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro)
|
|
|
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala)
|
rs864622209
|
|
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly)
|
rs1057519259
|
|
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn)
|
rs199790852
|
|
NM_005359.6(SMAD4):c.464G>C (p.Ser155Thr)
|
rs199790852
|
|
NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del)
|
rs786201939
|
|
NM_005359.6(SMAD4):c.468G>A (p.Met156Ile)
|
rs2144417826
|
|
NM_005359.6(SMAD4):c.469A>T (p.Met157Leu)
|
rs1443471590
|
|
NM_005359.6(SMAD4):c.470T>A (p.Met157Lys)
|
rs756675590
|
|
NM_005359.6(SMAD4):c.472G>A (p.Val158Met)
|
|
|
NM_005359.6(SMAD4):c.472G>T (p.Val158Leu)
|
rs1555685628
|
|
NM_005359.6(SMAD4):c.472_516del (p.Val158_Leu172del)
|
|
|
NM_005359.6(SMAD4):c.473T>A (p.Val158Glu)
|
rs1909795284
|
|
NM_005359.6(SMAD4):c.476A>G (p.Lys159Arg)
|
rs1909795433
|
|
NM_005359.6(SMAD4):c.476A>T (p.Lys159Met)
|
|
|
NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn)
|
rs1909795479
|
|
NM_005359.6(SMAD4):c.478G>A (p.Asp160Asn)
|
rs1599186807
|
|
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)
|
rs1555685629
|
|
NM_005359.6(SMAD4):c.47G>A (p.Cys16Tyr)
|
rs1555684993
|
|
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser)
|
rs1555684993
|
|
NM_005359.6(SMAD4):c.47G>T (p.Cys16Phe)
|
rs1555684993
|
|
NM_005359.6(SMAD4):c.484T>C (p.Tyr162His)
|
rs786203155
|
|
NM_005359.6(SMAD4):c.485A>G (p.Tyr162Cys)
|
|
|
NM_005359.6(SMAD4):c.487G>A (p.Val163Met)
|
|
|
NM_005359.6(SMAD4):c.487G>T (p.Val163Leu)
|
|
|
NM_005359.6(SMAD4):c.491A>T (p.His164Leu)
|
rs876660058
|
|
NM_005359.6(SMAD4):c.4G>C (p.Asp2His)
|
|
|
NM_005359.6(SMAD4):c.503G>A (p.Gly168Glu)
|
rs1555685631
|
|
NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser)
|
|
|
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu)
|
rs1568205010
|
|
NM_005359.6(SMAD4):c.516G>T (p.Leu172Phe)
|
rs1392368498
|
|
NM_005359.6(SMAD4):c.517T>G (p.Ser173Ala)
|
|
|
NM_005359.6(SMAD4):c.520A>G (p.Thr174Ala)
|
rs1333974956
|
|
NM_005359.6(SMAD4):c.527G>T (p.Gly176Val)
|
|
|
NM_005359.6(SMAD4):c.529C>T (p.His177Tyr)
|
rs1909797279
|
|
NM_005359.6(SMAD4):c.530A>C (p.His177Pro)
|
rs1568205026
|
|
NM_005359.6(SMAD4):c.530A>G (p.His177Arg)
|
rs1568205026
|
|
NM_005359.6(SMAD4):c.530A>T (p.His177Leu)
|
rs1568205026
|
|
NM_005359.6(SMAD4):c.535A>T (p.Ile179Phe)
|
rs542392980
|
|
NM_005359.6(SMAD4):c.538C>G (p.Gln180Glu)
|
rs377767332
|
|
NM_005359.6(SMAD4):c.540A>C (p.Gln180His)
|
rs1203141844
|
|
NM_005359.6(SMAD4):c.541A>C (p.Thr181Pro)
|
|
|
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala)
|
rs1599186888
|
|
NM_005359.6(SMAD4):c.541A>T (p.Thr181Ser)
|
rs1599186888
|
|
NM_005359.6(SMAD4):c.542C>A (p.Thr181Asn)
|
rs1909797937
|
|
NM_005359.6(SMAD4):c.542C>G (p.Thr181Ser)
|
rs1909797937
|
|
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val)
|
rs1909797996
|
|
NM_005359.6(SMAD4):c.546C>G (p.Ile182Met)
|
rs1599186890
|
|
NM_005359.6(SMAD4):c.547C>G (p.Gln183Glu)
|
rs1555685645
|
|
NM_005359.6(SMAD4):c.553C>A (p.Pro185Thr)
|
|
|
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser)
|
rs2144418704
|
|
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln)
|
rs770798845
|
|
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala)
|
rs1555685648
|
|
NM_005359.6(SMAD4):c.557C>G (p.Pro186Arg)
|
rs1909798390
|
|
NM_005359.6(SMAD4):c.557C>T (p.Pro186Leu)
|
rs1909798390
|
|
NM_005359.6(SMAD4):c.559A>C (p.Ser187Arg)
|
|
|
NM_005359.6(SMAD4):c.55A>G (p.Ile19Val)
|
rs1568202964
|
|
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn)
|
rs927620013
|
|
NM_005359.6(SMAD4):c.560G>C (p.Ser187Thr)
|
rs927620013
|
|
NM_005359.6(SMAD4):c.562A>C (p.Asn188His)
|
rs2144418756
|
|
NM_005359.6(SMAD4):c.564T>G (p.Asn188Lys)
|
rs1909798588
|
|
NM_005359.6(SMAD4):c.565C>A (p.Arg189Ser)
|
rs140743238
|
|
NM_005359.6(SMAD4):c.565C>G (p.Arg189Gly)
|
rs140743238
|
|
NM_005359.6(SMAD4):c.569C>G (p.Ala190Gly)
|
|
|
NM_005359.6(SMAD4):c.572C>G (p.Ser191Trp)
|
|
|
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala)
|
rs1599186944
|
|
NM_005359.6(SMAD4):c.574A>T (p.Thr192Ser)
|
rs1599186944
|
|
NM_005359.6(SMAD4):c.579G>C (p.Glu193Asp)
|
rs2144418968
|
|
NM_005359.6(SMAD4):c.580A>T (p.Thr194Ser)
|
rs1432058632
|
|
NM_005359.6(SMAD4):c.584A>G (p.Tyr195Cys)
|
rs1555685656
|
|
NM_005359.6(SMAD4):c.586A>G (p.Ser196Gly)
|
rs946539148
|
|
NM_005359.6(SMAD4):c.589A>T (p.Thr197Ser)
|
|
|
NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala)
|
|
|
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg)
|
rs1189715258
|
|
NM_005359.6(SMAD4):c.598C>G (p.Leu200Val)
|
|
|
NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)
|
|
|
NM_005359.6(SMAD4):c.604G>A (p.Ala202Thr)
|
rs1909800453
|
|
NM_005359.6(SMAD4):c.605C>T (p.Ala202Val)
|
rs2144419222
|
|
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala)
|
rs199809905
|
|
NM_005359.6(SMAD4):c.608C>T (p.Pro203Leu)
|
rs779119136
|
|
NM_005359.6(SMAD4):c.611C>G (p.Ser204Cys)
|
|
|
NM_005359.6(SMAD4):c.613G>C (p.Glu205Gln)
|
|
|
NM_005359.6(SMAD4):c.614A>C (p.Glu205Ala)
|
rs748615724
|
|
NM_005359.6(SMAD4):c.615G>T (p.Glu205Asp)
|
rs1555685667
|
|
NM_005359.6(SMAD4):c.616T>G (p.Ser206Ala)
|
rs1909800988
|
|
NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys)
|
|
|
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala)
|
rs1555685670
|
|
NM_005359.6(SMAD4):c.626C>T (p.Thr209Ile)
|
rs1909801469
|
|
NM_005359.6(SMAD4):c.628A>G (p.Ser210Gly)
|
rs1568205087
|
|
NM_005359.6(SMAD4):c.629G>A (p.Ser210Asn)
|
rs1599187043
|
|
NM_005359.6(SMAD4):c.62A>G (p.His21Arg)
|
rs1280706054
|
|
NM_005359.6(SMAD4):c.631A>G (p.Thr211Ala)
|
rs1909801735
|
|
NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile)
|
|
|
NM_005359.6(SMAD4):c.634G>A (p.Ala212Thr)
|
rs863224732
|
|
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val)
|
rs1909801989
|
|
NM_005359.6(SMAD4):c.637A>C (p.Asn213His)
|
rs2144419490
|
|
NM_005359.6(SMAD4):c.639C>G (p.Asn213Lys)
|
rs878854767
|
|
NM_005359.6(SMAD4):c.641T>A (p.Phe214Tyr)
|
rs1060500736
|
|
NM_005359.6(SMAD4):c.642T>G (p.Phe214Leu)
|
rs1281575334
|
|
NM_005359.6(SMAD4):c.643C>G (p.Pro215Ala)
|
rs1064793270
|
|
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser)
|
rs1064793270
|
|
NM_005359.6(SMAD4):c.651T>G (p.Ile217Met)
|
rs997151197
|
|
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala)
|
rs1345146274
|
|
NM_005359.6(SMAD4):c.653C>G (p.Pro218Arg)
|
|
|
NM_005359.6(SMAD4):c.653C>T (p.Pro218Leu)
|
rs1909802993
|
|
NM_005359.6(SMAD4):c.655G>A (p.Val219Met)
|
|
|
NM_005359.6(SMAD4):c.656T>C (p.Val219Ala)
|
rs2144419636
|
|
NM_005359.6(SMAD4):c.659C>T (p.Ala220Val)
|
rs1909803170
|
|
NM_005359.6(SMAD4):c.661T>A (p.Ser221Thr)
|
rs1568205115
|
|
NM_005359.6(SMAD4):c.662C>T (p.Ser221Phe)
|
|
|
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)
|
rs770461626
|
|
NM_005359.6(SMAD4):c.665C>T (p.Thr222Ile)
|
|
|
NM_005359.6(SMAD4):c.667+6T>A
|
|
|
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly)
|
rs1568205121
|
|
NM_005359.6(SMAD4):c.668-3T>C
|
rs1568206021
|
|
NM_005359.6(SMAD4):c.668G>T (p.Ser223Ile)
|
rs774334251
|
|
NM_005359.6(SMAD4):c.673C>T (p.Pro225Ser)
|
rs2144426638
|
|
NM_005359.6(SMAD4):c.676G>C (p.Ala226Pro)
|
rs943293684
|
|
NM_005359.6(SMAD4):c.680G>A (p.Ser227Asn)
|
rs1909890755
|
|
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile)
|
rs1909890755
|
|
NM_005359.6(SMAD4):c.686T>G (p.Leu229Arg)
|
rs75667697
|
|
NM_005359.6(SMAD4):c.688G>A (p.Gly230Arg)
|
rs1568206043
|
|
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)
|
rs1568206043
|
|
NM_005359.6(SMAD4):c.689G>C (p.Gly230Ala)
|
rs1599189454
|
|
NM_005359.6(SMAD4):c.691G>A (p.Gly231Ser)
|
rs1599189469
|
|
NM_005359.6(SMAD4):c.691G>C (p.Gly231Arg)
|
rs1599189469
|
|
NM_005359.6(SMAD4):c.692G>A (p.Gly231Asp)
|
rs759679579
|
|
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala)
|
rs759679579
|
|
NM_005359.6(SMAD4):c.692G>T (p.Gly231Val)
|
rs759679579
|
|
NM_005359.6(SMAD4):c.695G>A (p.Ser232Asn)
|
rs1909891695
|
|
NM_005359.6(SMAD4):c.697C>A (p.His233Asn)
|
rs552880257
|
|
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg)
|
rs758642067
|
|
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly)
|
rs758642067
|
|
NM_005359.6(SMAD4):c.703G>A (p.Glu235Lys)
|
|
|
NM_005359.6(SMAD4):c.707G>A (p.Gly236Glu)
|
rs1568206062
|
|
NM_005359.6(SMAD4):c.710T>C (p.Leu237Pro)
|
|
|
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu)
|
rs1163381283
|
|
NM_005359.6(SMAD4):c.717G>C (p.Gln239His)
|
rs1599189519
|
|
NM_005359.6(SMAD4):c.718A>T (p.Ile240Leu)
|
|
|
NM_005359.6(SMAD4):c.722C>T (p.Ala241Val)
|
rs1909892795
|
|
NM_005359.6(SMAD4):c.728G>C (p.Gly243Ala)
|
rs2144427170
|
|
NM_005359.6(SMAD4):c.72G>A (p.Met24Ile)
|
|
|
NM_005359.6(SMAD4):c.731C>T (p.Pro244Leu)
|
rs764421512
|
|
NM_005359.6(SMAD4):c.734A>G (p.Gln245Arg)
|
rs1909893203
|
|
NM_005359.6(SMAD4):c.737C>T (p.Pro246Leu)
|
rs2144427298
|
|
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu)
|
rs1909893398
|
|
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)
|
|
|
NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu)
|
rs1370953444
|
|
NM_005359.6(SMAD4):c.745_746delinsAG (p.Gln249Arg)
|
rs1599189560
|
|
NM_005359.6(SMAD4):c.750G>C (p.Gln250His)
|
rs1555685922
|
|
NM_005359.6(SMAD4):c.752A>G (p.Asn251Ser)
|
rs1555685926
|
|
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val)
|
rs878854768
|
|
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr)
|
rs2144427543
|
|
NM_005359.6(SMAD4):c.760A>G (p.Thr254Ala)
|
rs1284924848
|
|
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys)
|
rs1555685930
|
|
NM_005359.6(SMAD4):c.76C>T (p.His26Tyr)
|
rs2144400736
|
|
NM_005359.6(SMAD4):c.772G>T (p.Ala258Ser)
|
rs2144427660
|
|
NM_005359.6(SMAD4):c.773C>T (p.Ala258Val)
|
rs2144427681
|
|
NM_005359.6(SMAD4):c.775A>G (p.Thr259Ala)
|
rs1599189628
|
|
NM_005359.6(SMAD4):c.779A>G (p.Tyr260Cys)
|
|
|
NM_005359.6(SMAD4):c.787+4T>C
|
rs2144427833
|
|
NM_005359.6(SMAD4):c.787A>G (p.Asn263Asp)
|
rs1568206105
|
|
NM_005359.6(SMAD4):c.788-16G>A
|
|
|
NM_005359.6(SMAD4):c.788-3T>C
|
rs1555685949
|
|
NM_005359.6(SMAD4):c.788A>G (p.Asn263Ser)
|
|
|
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys)
|
rs763510526
|
|
NM_005359.6(SMAD4):c.790A>G (p.Ser264Gly)
|
rs587780125
|
|
NM_005359.6(SMAD4):c.793A>C (p.Thr265Pro)
|
|
|
NM_005359.6(SMAD4):c.793A>G (p.Thr265Ala)
|
rs1909898754
|
|
NM_005359.6(SMAD4):c.796A>G (p.Thr266Ala)
|
rs1909898933
|
|
NM_005359.6(SMAD4):c.797C>T (p.Thr266Ile)
|
rs1909899027
|
|
NM_005359.6(SMAD4):c.799A>C (p.Thr267Pro)
|
rs1064793728
|
|
NM_005359.6(SMAD4):c.79A>G (p.Arg27Gly)
|
|
|
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile)
|
rs1555685955
|
|
NM_005359.6(SMAD4):c.802T>C (p.Trp268Arg)
|
rs1909899403
|
|
NM_005359.6(SMAD4):c.804G>C (p.Trp268Cys)
|
rs1909899600
|
|
NM_005359.6(SMAD4):c.805A>C (p.Thr269Pro)
|
rs1909899693
|
|
NM_005359.6(SMAD4):c.806C>G (p.Thr269Ser)
|
rs1909899785
|
|
NM_005359.6(SMAD4):c.811A>G (p.Ser271Gly)
|
|
|
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn)
|
rs1343555503
|
|
NM_005359.6(SMAD4):c.815G>A (p.Arg272Lys)
|
rs2144428590
|
|
NM_005359.6(SMAD4):c.817A>G (p.Thr273Ala)
|
rs1909900343
|
|
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val)
|
rs2144428659
|
|
NM_005359.6(SMAD4):c.827A>C (p.Tyr276Ser)
|
rs1229812463
|
|
NM_005359.6(SMAD4):c.827A>G (p.Tyr276Cys)
|
rs1229812463
|
|
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala)
|
rs1555685960
|
|
NM_005359.6(SMAD4):c.82C>A (p.Gln28Lys)
|
rs2144400785
|
|
NM_005359.6(SMAD4):c.837T>G (p.Asn279Lys)
|
rs1555685961
|
|
NM_005359.6(SMAD4):c.841C>G (p.Pro281Ala)
|
|
|
NM_005359.6(SMAD4):c.841C>T (p.Pro281Ser)
|
rs1909902164
|
|
NM_005359.6(SMAD4):c.842C>T (p.Pro281Leu)
|
rs1568206174
|
|
NM_005359.6(SMAD4):c.844C>T (p.His282Tyr)
|
rs1909902431
|
|
NM_005359.6(SMAD4):c.845A>C (p.His282Pro)
|
rs1555685962
|
|
NM_005359.6(SMAD4):c.847C>T (p.His283Tyr)
|
|
|
NM_005359.6(SMAD4):c.849C>G (p.His283Gln)
|
|
|
NM_005359.6(SMAD4):c.851A>C (p.Gln284Pro)
|
|
|
NM_005359.6(SMAD4):c.853A>G (p.Asn285Asp)
|
|
|
NM_005359.6(SMAD4):c.856G>T (p.Gly286Cys)
|
|
|
NM_005359.6(SMAD4):c.859C>A (p.His287Asn)
|
|
|
NM_005359.6(SMAD4):c.860A>G (p.His287Arg)
|
rs1568206180
|
|
NM_005359.6(SMAD4):c.865C>A (p.Gln289Lys)
|
rs1909903439
|
|
NM_005359.6(SMAD4):c.86G>A (p.Gly29Asp)
|
|
|
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr)
|
rs863224733
|
|
NM_005359.6(SMAD4):c.874C>G (p.Pro292Ala)
|
rs1909904049
|
|
NM_005359.6(SMAD4):c.878C>A (p.Pro293His)
|
|
|
NM_005359.6(SMAD4):c.87T>G (p.Gly29=)
|
rs886053893
|
|
NM_005359.6(SMAD4):c.883C>A (p.Pro295Thr)
|
|
|
NM_005359.6(SMAD4):c.887C>A (p.Pro296His)
|
rs1417632301
|
|
NM_005359.6(SMAD4):c.889C>A (p.His297Asn)
|
|
|
NM_005359.6(SMAD4):c.890A>G (p.His297Arg)
|
rs1060500737
|
|
NM_005359.6(SMAD4):c.892C>A (p.Pro298Thr)
|
rs2144429377
|
|
NM_005359.6(SMAD4):c.892C>T (p.Pro298Ser)
|
|
|
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg)
|
rs1330888967
|
|
NM_005359.6(SMAD4):c.898C>G (p.His300Asp)
|
|
|
NM_005359.6(SMAD4):c.899A>G (p.His300Arg)
|
rs1060500731
|
|
NM_005359.6(SMAD4):c.89G>T (p.Gly30Val)
|
|
|
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser)
|
rs757702252
|
|
NM_005359.6(SMAD4):c.904+16_904+17insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGCTGTTTTGGTTACTGTAGCCTTGTATGATAGTTTGAAGTCAGGTTGTGTGATTCCTCCAGCTTTGTTCTTTTGGAGTAAGCTCTTGTTTTT
|
rs2144429509
|
|
NM_005359.6(SMAD4):c.904+6C>G
|
rs1909906368
|
|
NM_005359.6(SMAD4):c.904+6C>T
|
rs1909906368
|
|
NM_005359.6(SMAD4):c.904T>A (p.Trp302Arg)
|
|
|
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg)
|
rs1555685979
|
|
NM_005359.6(SMAD4):c.905-3T>G
|
|
|
NM_005359.6(SMAD4):c.905-6C>G
|
rs777595914
|
|
NM_005359.6(SMAD4):c.906G>C (p.Trp302Cys)
|
|
|
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala)
|
rs1568206575
|
|
NM_005359.6(SMAD4):c.907C>T (p.Pro303Ser)
|
rs1568206575
|
|
NM_005359.6(SMAD4):c.908C>A (p.Pro303His)
|
rs2144433151
|
|
NM_005359.6(SMAD4):c.909T>A (p.Pro303=)
|
rs141149381
|
|
NM_005359.6(SMAD4):c.90A>G (p.Gly30=)
|
rs876660353
|
|
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile)
|
rs375185293
|
|
NM_005359.6(SMAD4):c.914A>C (p.His305Pro)
|
rs1555686072
|
|
NM_005359.6(SMAD4):c.915C>A (p.His305Gln)
|
rs1909959040
|
|
NM_005359.6(SMAD4):c.916A>C (p.Asn306His)
|
|
|
NM_005359.6(SMAD4):c.918T>G (p.Asn306Lys)
|
rs1555686075
|
|
NM_005359.6(SMAD4):c.919G>A (p.Glu307Lys)
|
rs1555686079
|
|
NM_005359.6(SMAD4):c.922C>G (p.Leu308Val)
|
rs1383128743
|
|
NM_005359.6(SMAD4):c.923T>C (p.Leu308Pro)
|
rs1599191222
|
|
NM_005359.6(SMAD4):c.925G>A (p.Ala309Thr)
|
rs774463256
|
|
NM_005359.6(SMAD4):c.925G>C (p.Ala309Pro)
|
rs774463256
|
|
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val)
|
rs1599191240
|
|
NM_005359.6(SMAD4):c.930C>G (p.Phe310Leu)
|
rs876658257
|
|
NM_005359.6(SMAD4):c.934C>T (p.Pro312Ser)
|
rs2144433460
|
|
NM_005359.6(SMAD4):c.935C>G (p.Pro312Arg)
|
rs1555686082
|
|
NM_005359.6(SMAD4):c.937C>A (p.Pro313Thr)
|
rs1909960229
|
|
NM_005359.6(SMAD4):c.937C>G (p.Pro313Ala)
|
rs1909960229
|
|
NM_005359.6(SMAD4):c.938C>A (p.Pro313His)
|
|
|
NM_005359.6(SMAD4):c.946A>G (p.Asn316Asp)
|
rs2144433576
|
|
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala)
|
rs1909960667
|
|
NM_005359.6(SMAD4):c.955+4A>G
|
rs760962650
|
|
NM_005359.6(SMAD4):c.955+5G>A
|
rs1909960931
|
|
NM_005359.6(SMAD4):c.955+6T>C
|
|
|
NM_005359.6(SMAD4):c.956-17C>G
|
|
|
NM_005359.6(SMAD4):c.959C>G (p.Pro320Arg)
|
|
|
NM_005359.6(SMAD4):c.961G>A (p.Glu321Lys)
|
|
|
NM_005359.6(SMAD4):c.969G>T (p.Trp323Cys)
|
rs772575670
|
|
NM_005359.6(SMAD4):c.973T>A (p.Ser325Thr)
|
|
|
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val)
|
rs1402203611
|
|
NM_005359.6(SMAD4):c.993G>A (p.Met331Ile)
|
rs1910120904
|
|
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile)
|
rs1274926456
|
|
NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)
|
rs1553371013
|
|
NM_005456.4(MAPK8IP1):c.1666+5T>C
|
|
|
NM_005915.6(MCM6):c.1366G>A (p.Val456Met)
|
|
|
NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)
|
|
|
NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)
|
|
|
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del)
|
rs876657735
|
|
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn)
|
rs2109125284
|
|
NM_006005.3(WFS1):c.1135G>T (p.Asp379Tyr)
|
rs772554352
|
|
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn)
|
rs775342800
|
|
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)
|
rs201282601
|
|
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala)
|
rs756869880
|
|
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu)
|
rs749886570
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys)
|
rs147974629
|
|
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met)
|
rs139361521
|
|
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln)
|
rs2109125928
|
|
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser)
|
rs111773340
|
|
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met)
|
rs1801211
|
|
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)
|
rs372783392
|
|
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)
|
rs1057524887
|
|
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)
|
rs140773453
|
|
NM_006005.3(WFS1):c.1744G>A (p.Val582Met)
|
rs377677092
|
|
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala)
|
rs780471127
|
|
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr)
|
rs863224266
|
|
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys)
|
rs758746685
|
|
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met)
|
rs376626985
|
|
NM_006005.3(WFS1):c.1929C>G (p.Ile643Met)
|
|
|
NM_006005.3(WFS1):c.1930G>A (p.Val644Met)
|
rs141570700
|
|
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu)
|
rs150465110
|
|
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser)
|
rs757027394
|
|
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp)
|
rs751270928
|
|
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)
|
|
|
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp)
|
rs1560421124
|
|
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys)
|
rs147465252
|
|
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val)
|
rs71526459
|
|
NM_006005.3(WFS1):c.2315G>A (p.Arg772His)
|
rs758646445
|
|
NM_006005.3(WFS1):c.2372G>A (p.Arg791His)
|
rs775659531
|
|
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp)
|
rs373310972
|
|
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp)
|
rs764842865
|
|
NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile)
|
rs1730968164
|
|
NM_006005.3(WFS1):c.2580C>A (p.His860Gln)
|
rs754802246
|
|
NM_006005.3(WFS1):c.2595C>A (p.His865Gln)
|
rs142469572
|
|
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr)
|
rs3821945
|
|
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)
|
rs56393026
|
|
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn)
|
rs759360634
|
|
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser)
|
rs776488772
|
|
NM_006005.3(WFS1):c.631+4C>T
|
rs377209257
|
|
NM_006005.3(WFS1):c.667C>A (p.Leu223Met)
|
rs1057524889
|
|
NM_006005.3(WFS1):c.81C>T (p.Leu27=)
|
rs777168956
|
|
NM_006005.3(WFS1):c.889A>G (p.Met297Val)
|
rs1553878254
|
|
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile)
|
rs71537678
|
|
NM_006031.6(PCNT):c.4585-26_7180-1125del
|
|
|
NM_006097.5(MYL9):c.184+2_184+10del
|
rs1569529545
|
|
NM_006206.4(PDGFRA):c.51dup
|
rs1722675453
|
|
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.1000C>T (p.His334Tyr)
|
rs1723113261
|
|
NM_006206.6(PDGFRA):c.1002T>G (p.His334Gln)
|
rs2110266953
|
|
NM_006206.6(PDGFRA):c.1009G>A (p.Val337Ile)
|
rs1723113653
|
|
NM_006206.6(PDGFRA):c.1009G>T (p.Val337Leu)
|
rs1723113653
|
|
NM_006206.6(PDGFRA):c.1010T>C (p.Val337Ala)
|
|
|
NM_006206.6(PDGFRA):c.1012G>A (p.Glu338Lys)
|
|
|
NM_006206.6(PDGFRA):c.1015G>A (p.Val339Met)
|
rs747257877
|
|
NM_006206.6(PDGFRA):c.1019G>T (p.Arg340Leu)
|
|
|
NM_006206.6(PDGFRA):c.1030C>T (p.Pro344Ser)
|
rs764140125
|
|
NM_006206.6(PDGFRA):c.1031C>A (p.Pro344His)
|
|
|
NM_006206.6(PDGFRA):c.1038G>C (p.Arg346Ser)
|
|
|
NM_006206.6(PDGFRA):c.1038G>T (p.Arg346Ser)
|
rs1308423101
|
|
NM_006206.6(PDGFRA):c.1043C>G (p.Ser348Cys)
|
|
|
NM_006206.6(PDGFRA):c.1043C>T (p.Ser348Phe)
|
rs2110267268
|
|
NM_006206.6(PDGFRA):c.1048C>A (p.Leu350Met)
|
|
|
NM_006206.6(PDGFRA):c.1051A>C (p.Lys351Gln)
|
|
|
NM_006206.6(PDGFRA):c.1055A>G (p.Asn352Ser)
|
rs2110267317
|
|
NM_006206.6(PDGFRA):c.1057A>T (p.Asn353Tyr)
|
rs139103850
|
|
NM_006206.6(PDGFRA):c.1058A>G (p.Asn353Ser)
|
|
|
NM_006206.6(PDGFRA):c.1061T>A (p.Leu354Gln)
|
|
|
NM_006206.6(PDGFRA):c.1064C>A (p.Thr355Asn)
|
|
|
NM_006206.6(PDGFRA):c.1065_1066delinsGG (p.Leu356Val)
|
rs1723118587
|
|
NM_006206.6(PDGFRA):c.1066C>G (p.Leu356Val)
|
rs2110267410
|
|
NM_006206.6(PDGFRA):c.1067T>C (p.Leu356Pro)
|
rs2110267420
|
|
NM_006206.6(PDGFRA):c.1069A>T (p.Ile357Phe)
|
rs2110267429
|
|
NM_006206.6(PDGFRA):c.1070T>C (p.Ile357Thr)
|
rs1553903357
|
|
NM_006206.6(PDGFRA):c.1073A>C (p.Glu358Ala)
|
|
|
NM_006206.6(PDGFRA):c.107_108inv (p.Glu36Val)
|
|
|
NM_006206.6(PDGFRA):c.1087A>G (p.Ile363Val)
|
|
|
NM_006206.6(PDGFRA):c.1089C>G (p.Ile363Met)
|
rs2110267512
|
|
NM_006206.6(PDGFRA):c.1090A>G (p.Thr364Ala)
|
rs1723119453
|
|
NM_006206.6(PDGFRA):c.1094C>T (p.Thr365Ile)
|
rs1303150389
|
|
NM_006206.6(PDGFRA):c.1097A>C (p.Asp366Ala)
|
|
|
NM_006206.6(PDGFRA):c.10T>G (p.Ser4Ala)
|
|
|
NM_006206.6(PDGFRA):c.1103A>G (p.Glu368Gly)
|
rs1060501521
|
|
NM_006206.6(PDGFRA):c.1105A>G (p.Lys369Glu)
|
|
|
NM_006206.6(PDGFRA):c.1108A>C (p.Ile370Leu)
|
|
|
NM_006206.6(PDGFRA):c.1108A>G (p.Ile370Val)
|
rs1553903361
|
|
NM_006206.6(PDGFRA):c.1109T>G (p.Ile370Ser)
|
|
|
NM_006206.6(PDGFRA):c.1110T>G (p.Ile370Met)
|
|
|
NM_006206.6(PDGFRA):c.1111C>G (p.Gln371Glu)
|
rs1419727467
|
|
NM_006206.6(PDGFRA):c.1114G>A (p.Glu372Lys)
|
rs2110267665
|
|
NM_006206.6(PDGFRA):c.1116A>T (p.Glu372Asp)
|
|
|
NM_006206.6(PDGFRA):c.1117A>G (p.Ile373Val)
|
rs2110267678
|
|
NM_006206.6(PDGFRA):c.111G>T (p.Lys37Asn)
|
rs1553902353
|
|
NM_006206.6(PDGFRA):c.1121+5A>G
|
rs878854818
|
|
NM_006206.6(PDGFRA):c.1121+6G>T
|
rs1560473366
|
|
NM_006206.6(PDGFRA):c.1122-2A>C
|
|
|
NM_006206.6(PDGFRA):c.1122-3A>T
|
rs1723288514
|
|
NM_006206.6(PDGFRA):c.1122-5A>G
|
rs1723288050
|
|
NM_006206.6(PDGFRA):c.1122-7T>A
|
rs1723287521
|
|
NM_006206.6(PDGFRA):c.1122G>A (p.Arg374=)
|
|
|
NM_006206.6(PDGFRA):c.1126C>G (p.Arg376Gly)
|
rs1577719401
|
|
NM_006206.6(PDGFRA):c.1127G>T (p.Arg376Leu)
|
|
|
NM_006206.6(PDGFRA):c.1129A>G (p.Ser377Gly)
|
rs1553903724
|
|
NM_006206.6(PDGFRA):c.112G>A (p.Val38Ile)
|
rs1560466594
|
|
NM_006206.6(PDGFRA):c.112G>C (p.Val38Leu)
|
rs1560466594
|
|
NM_006206.6(PDGFRA):c.1132A>C (p.Lys378Gln)
|
|
|
NM_006206.6(PDGFRA):c.1133A>C (p.Lys378Thr)
|
rs200113704
|
|
NM_006206.6(PDGFRA):c.1140G>T (p.Lys380Asn)
|
rs1577719475
|
|
NM_006206.6(PDGFRA):c.1145T>C (p.Ile382Thr)
|
rs1369890012
|
|
NM_006206.6(PDGFRA):c.1146_1147insA (p.Arg383fs)
|
rs2110279440
|
|
NM_006206.6(PDGFRA):c.1150G>A (p.Ala384Thr)
|
|
|
NM_006206.6(PDGFRA):c.1151C>T (p.Ala384Val)
|
rs1577719527
|
|
NM_006206.6(PDGFRA):c.1157A>G (p.Glu386Gly)
|
rs1723292919
|
|
NM_006206.6(PDGFRA):c.1159G>C (p.Glu387Gln)
|
rs757529905
|
|
NM_006206.6(PDGFRA):c.115G>C (p.Val39Leu)
|
|
|
NM_006206.6(PDGFRA):c.1160A>G (p.Glu387Gly)
|
rs930852806
|
|
NM_006206.6(PDGFRA):c.1162G>A (p.Asp388Asn)
|
|
|
NM_006206.6(PDGFRA):c.1171C>T (p.His391Tyr)
|
rs781579645
|
|
NM_006206.6(PDGFRA):c.1172A>G (p.His391Arg)
|
rs2110279726
|
|
NM_006206.6(PDGFRA):c.1173T>G (p.His391Gln)
|
rs1553903746
|
|
NM_006206.6(PDGFRA):c.1180A>C (p.Ile394Leu)
|
rs1723295850
|
|
NM_006206.6(PDGFRA):c.1181T>G (p.Ile394Ser)
|
|
|
NM_006206.6(PDGFRA):c.1183G>A (p.Val395Ile)
|
rs1354659434
|
|
NM_006206.6(PDGFRA):c.1184T>C (p.Val395Ala)
|
|
|
NM_006206.6(PDGFRA):c.1184T>G (p.Val395Gly)
|
|
|
NM_006206.6(PDGFRA):c.1186G>T (p.Ala396Ser)
|
rs1327567130
|
|
NM_006206.6(PDGFRA):c.1189C>A (p.Gln397Lys)
|
rs1467315284
|
|
NM_006206.6(PDGFRA):c.1189C>G (p.Gln397Glu)
|
rs1467315284
|
|
NM_006206.6(PDGFRA):c.1190A>G (p.Gln397Arg)
|
|
|
NM_006206.6(PDGFRA):c.1191A>C (p.Gln397His)
|
rs2110279943
|
|
NM_006206.6(PDGFRA):c.1196A>C (p.Glu399Ala)
|
rs1723297042
|
|
NM_006206.6(PDGFRA):c.1199A>G (p.Asp400Gly)
|
rs1560475881
|
|
NM_006206.6(PDGFRA):c.11C>A (p.Ser4Tyr)
|
rs138929755
|
|
NM_006206.6(PDGFRA):c.11C>G (p.Ser4Cys)
|
rs138929755
|
|
NM_006206.6(PDGFRA):c.11C>T (p.Ser4Phe)
|
rs138929755
|
|
NM_006206.6(PDGFRA):c.1202C>T (p.Ala401Val)
|
rs397514549
|
|
NM_006206.6(PDGFRA):c.1204G>T (p.Val402Leu)
|
|
|
NM_006206.6(PDGFRA):c.1208A>C (p.Lys403Thr)
|
|
|
NM_006206.6(PDGFRA):c.1211G>A (p.Ser404Asn)
|
rs1577719688
|
|
NM_006206.6(PDGFRA):c.1211G>C (p.Ser404Thr)
|
|
|
NM_006206.6(PDGFRA):c.1214A>C (p.Tyr405Ser)
|
|
|
NM_006206.6(PDGFRA):c.1214A>G (p.Tyr405Cys)
|
rs1553903757
|
|
NM_006206.6(PDGFRA):c.1217C>T (p.Thr406Ile)
|
rs772053864
|
|
NM_006206.6(PDGFRA):c.1223A>T (p.Glu408Val)
|
rs1553903767
|
|
NM_006206.6(PDGFRA):c.1225C>A (p.Leu409Met)
|
|
|
NM_006206.6(PDGFRA):c.1231A>C (p.Thr411Pro)
|
rs889107760
|
|
NM_006206.6(PDGFRA):c.1232C>G (p.Thr411Ser)
|
|
|
NM_006206.6(PDGFRA):c.1237+3A>G
|
rs760562117
|
|
NM_006206.6(PDGFRA):c.1237+4T>A
|
rs533219222
|
|
NM_006206.6(PDGFRA):c.1237+5G>A
|
rs878854819
|
|
NM_006206.6(PDGFRA):c.1237+6T>C
|
|
|
NM_006206.6(PDGFRA):c.1238-17_1238-15del
|
|
|
NM_006206.6(PDGFRA):c.1243T>C (p.Ser415Pro)
|
rs1060501514
|
|
NM_006206.6(PDGFRA):c.1247C>G (p.Ser416Cys)
|
|
|
NM_006206.6(PDGFRA):c.1249A>T (p.Ile417Phe)
|
rs1723449686
|
|
NM_006206.6(PDGFRA):c.1252C>G (p.Leu418Val)
|
rs1723449862
|
|
NM_006206.6(PDGFRA):c.1256A>C (p.Asp419Ala)
|
rs2110286753
|
|
NM_006206.6(PDGFRA):c.1261G>C (p.Val421Leu)
|
|
|
NM_006206.6(PDGFRA):c.1264G>C (p.Asp422His)
|
rs770847351
|
|
NM_006206.6(PDGFRA):c.1267G>C (p.Asp423His)
|
|
|
NM_006206.6(PDGFRA):c.1268A>G (p.Asp423Gly)
|
|
|
NM_006206.6(PDGFRA):c.1271A>C (p.His424Pro)
|
rs2110286845
|
|
NM_006206.6(PDGFRA):c.1274A>T (p.His425Leu)
|
rs769631321
|
|
NM_006206.6(PDGFRA):c.1275T>G (p.His425Gln)
|
rs1553904015
|
|
NM_006206.6(PDGFRA):c.1279T>C (p.Ser427Pro)
|
rs1723452992
|
|
NM_006206.6(PDGFRA):c.1283C>T (p.Thr428Ile)
|
rs762651640
|
|
NM_006206.6(PDGFRA):c.1284T>A (p.Thr428=)
|
rs763716086
|
|
NM_006206.6(PDGFRA):c.1286G>T (p.Gly429Val)
|
|
|
NM_006206.6(PDGFRA):c.1288G>A (p.Gly430Arg)
|
rs1197237938
|
|
NM_006206.6(PDGFRA):c.1289G>A (p.Gly430Glu)
|
|
|
NM_006206.6(PDGFRA):c.1297G>A (p.Val433Met)
|
|
|
NM_006206.6(PDGFRA):c.1297G>T (p.Val433Leu)
|
|
|
NM_006206.6(PDGFRA):c.1298T>C (p.Val433Ala)
|
rs1723456601
|
|
NM_006206.6(PDGFRA):c.1301G>A (p.Arg434Lys)
|
|
|
NM_006206.6(PDGFRA):c.1303T>C (p.Cys435Arg)
|
rs1723456987
|
|
NM_006206.6(PDGFRA):c.1310C>T (p.Ala437Val)
|
rs1553904029
|
|
NM_006206.6(PDGFRA):c.1317C>T (p.Gly439=)
|
rs2110287255
|
|
NM_006206.6(PDGFRA):c.1318A>T (p.Thr440Ser)
|
|
|
NM_006206.6(PDGFRA):c.1322C>A (p.Pro441Gln)
|
rs1031763557
|
|
NM_006206.6(PDGFRA):c.1322C>T (p.Pro441Leu)
|
rs1031763557
|
|
NM_006206.6(PDGFRA):c.1323_1324delinsCT (p.Leu442Phe)
|
|
|
NM_006206.6(PDGFRA):c.1330G>A (p.Asp444Asn)
|
rs745702167
|
|
NM_006206.6(PDGFRA):c.1331A>G (p.Asp444Gly)
|
rs1723460138
|
|
NM_006206.6(PDGFRA):c.1331A>T (p.Asp444Val)
|
rs1723460138
|
|
NM_006206.6(PDGFRA):c.1333A>G (p.Ile445Val)
|
rs2110287386
|
|
NM_006206.6(PDGFRA):c.1334T>C (p.Ile445Thr)
|
rs2110287393
|
|
NM_006206.6(PDGFRA):c.1337A>G (p.Glu446Gly)
|
|
|
NM_006206.6(PDGFRA):c.1338G>C (p.Glu446Asp)
|
|
|
NM_006206.6(PDGFRA):c.1338G>T (p.Glu446Asp)
|
rs1723460583
|
|
NM_006206.6(PDGFRA):c.1346T>C (p.Ile449Thr)
|
|
|
NM_006206.6(PDGFRA):c.1350C>A (p.Cys450Ter)
|
rs1577722696
|
|
NM_006206.6(PDGFRA):c.1352A>G (p.Lys451Arg)
|
rs1178568199
|
|
NM_006206.6(PDGFRA):c.1354G>A (p.Asp452Asn)
|
|
|
NM_006206.6(PDGFRA):c.1354G>C (p.Asp452His)
|
|
|
NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val)
|
rs587778603
|
|
NM_006206.6(PDGFRA):c.1357A>T (p.Ile453Phe)
|
rs587778603
|
|
NM_006206.6(PDGFRA):c.1358T>C (p.Ile453Thr)
|
rs1577722738
|
|
NM_006206.6(PDGFRA):c.1361A>G (p.Lys454Arg)
|
rs560971320
|
|
NM_006206.6(PDGFRA):c.1362G>T (p.Lys454Asn)
|
|
|
NM_006206.6(PDGFRA):c.1364+18G>A
|
|
|
NM_006206.6(PDGFRA):c.1364+3A>G
|
rs1577722774
|
|
NM_006206.6(PDGFRA):c.1364+6G>A
|
rs368934617
|
|
NM_006206.6(PDGFRA):c.1364A>G (p.Lys455Arg)
|
rs1553904049
|
|
NM_006206.6(PDGFRA):c.1364A>T (p.Lys455Ile)
|
rs1553904049
|
|
NM_006206.6(PDGFRA):c.1365-12T>C
|
rs886059445
|
|
NM_006206.6(PDGFRA):c.1365A>G (p.Lys455=)
|
|
|
NM_006206.6(PDGFRA):c.1367G>A (p.Cys456Tyr)
|
rs761185076
|
|
NM_006206.6(PDGFRA):c.1369A>G (p.Asn457Asp)
|
rs1294435524
|
|
NM_006206.6(PDGFRA):c.136T>A (p.Ser46Thr)
|
rs1722683067
|
|
NM_006206.6(PDGFRA):c.1373A>G (p.Asn458Ser)
|
rs777051666
|
|
NM_006206.6(PDGFRA):c.1377A>C (p.Glu459Asp)
|
|
|
NM_006206.6(PDGFRA):c.1377A>T (p.Glu459Asp)
|
rs947086492
|
|
NM_006206.6(PDGFRA):c.1378A>G (p.Thr460Ala)
|
rs1723523743
|
|
NM_006206.6(PDGFRA):c.1379C>G (p.Thr460Ser)
|
|
|
NM_006206.6(PDGFRA):c.1382C>T (p.Ser461Phe)
|
|
|
NM_006206.6(PDGFRA):c.1386G>A (p.Trp462Ter)
|
|
|
NM_006206.6(PDGFRA):c.1388C>T (p.Thr463Ile)
|
rs375047532
|
|
NM_006206.6(PDGFRA):c.1390A>G (p.Ile464Val)
|
rs372990693
|
|
NM_006206.6(PDGFRA):c.1395G>C (p.Leu465Phe)
|
rs2110291470
|
|
NM_006206.6(PDGFRA):c.1396G>T (p.Ala466Ser)
|
rs2110291481
|
|
NM_006206.6(PDGFRA):c.139C>T (p.Leu47=)
|
|
|
NM_006206.6(PDGFRA):c.1401C>A (p.Asn467Lys)
|
rs878854821
|
|
NM_006206.6(PDGFRA):c.1401C>G (p.Asn467Lys)
|
|
|
NM_006206.6(PDGFRA):c.1402A>G (p.Asn468Asp)
|
rs1723525802
|
|
NM_006206.6(PDGFRA):c.1402_1404del (p.Asn468del)
|
|
|
NM_006206.6(PDGFRA):c.1403A>G (p.Asn468Ser)
|
rs1577724130
|
|
NM_006206.6(PDGFRA):c.1405G>A (p.Val469Ile)
|
rs1060501506
|
|
NM_006206.6(PDGFRA):c.1405_1406delinsTA (p.Val469Tyr)
|
rs1560478761
|
|
NM_006206.6(PDGFRA):c.1409C>G (p.Ser470Ter)
|
rs2110291681
|
|
NM_006206.6(PDGFRA):c.1411A>C (p.Asn471His)
|
rs758497476
|
|
NM_006206.6(PDGFRA):c.1411A>G (p.Asn471Asp)
|
rs758497476
|
|
NM_006206.6(PDGFRA):c.1414A>G (p.Ile472Val)
|
rs1553904177
|
|
NM_006206.6(PDGFRA):c.1415TCA[1] (p.Ile473del)
|
rs2110291741
|
|
NM_006206.6(PDGFRA):c.1417A>G (p.Ile473Val)
|
rs587778594
|
|
NM_006206.6(PDGFRA):c.1419_1420delinsTC (p.Thr474Pro)
|
|
|
NM_006206.6(PDGFRA):c.141G>A (p.Leu47=)
|
|
|
NM_006206.6(PDGFRA):c.1426A>T (p.Ile476Phe)
|
rs1329845160
|
|
NM_006206.6(PDGFRA):c.1427T>A (p.Ile476Asn)
|
rs1723529557
|
|
NM_006206.6(PDGFRA):c.1429C>A (p.His477Asn)
|
rs1553904188
|
|
NM_006206.6(PDGFRA):c.1429C>T (p.His477Tyr)
|
rs1553904188
|
|
NM_006206.6(PDGFRA):c.1431C>G (p.His477Gln)
|
rs1553904190
|
|
NM_006206.6(PDGFRA):c.1431_1432delinsGC (p.His477_Ser478delinsGlnPro)
|
rs1723530523
|
|
NM_006206.6(PDGFRA):c.1433C>T (p.Ser478Phe)
|
rs1723531494
|
|
NM_006206.6(PDGFRA):c.1442G>C (p.Arg481Thr)
|
|
|
NM_006206.6(PDGFRA):c.1444A>G (p.Ser482Gly)
|
|
|
NM_006206.6(PDGFRA):c.1445G>A (p.Ser482Asn)
|
rs1723533445
|
|
NM_006206.6(PDGFRA):c.1447A>T (p.Thr483Ser)
|
rs2110292155
|
|
NM_006206.6(PDGFRA):c.144A>C (p.Arg48Ser)
|
rs1553902375
|
|
NM_006206.6(PDGFRA):c.1450G>T (p.Val484Leu)
|
|
|
NM_006206.6(PDGFRA):c.145T>C (p.Cys49Arg)
|
|
|
NM_006206.6(PDGFRA):c.1460G>T (p.Arg487Leu)
|
|
|
NM_006206.6(PDGFRA):c.1462G>A (p.Val488Met)
|
rs1723536023
|
|
NM_006206.6(PDGFRA):c.1466C>T (p.Thr489Ile)
|
|
|
NM_006206.6(PDGFRA):c.1468T>C (p.Phe490Leu)
|
|
|
NM_006206.6(PDGFRA):c.1474A>C (p.Lys492Gln)
|
rs1723537368
|
|
NM_006206.6(PDGFRA):c.1474A>G (p.Lys492Glu)
|
|
|
NM_006206.6(PDGFRA):c.1479G>A (p.Val493=)
|
|
|
NM_006206.6(PDGFRA):c.1486A>G (p.Thr496Ala)
|
rs778784351
|
|
NM_006206.6(PDGFRA):c.1486A>T (p.Thr496Ser)
|
rs778784351
|
|
NM_006206.6(PDGFRA):c.1489A>G (p.Ile497Val)
|
|
|
NM_006206.6(PDGFRA):c.1490T>C (p.Ile497Thr)
|
rs1577724495
|
|
NM_006206.6(PDGFRA):c.1493C>T (p.Ala498Val)
|
rs1577724518
|
|
NM_006206.6(PDGFRA):c.1495G>T (p.Val499Leu)
|
rs746574289
|
|
NM_006206.6(PDGFRA):c.1496T>C (p.Val499Ala)
|
rs1723540133
|
|
NM_006206.6(PDGFRA):c.1498C>T (p.Arg500Ter)
|
rs369219442
|
|
NM_006206.6(PDGFRA):c.149T>A (p.Phe50Tyr)
|
|
|
NM_006206.6(PDGFRA):c.149T>C (p.Phe50Ser)
|
rs1722684084
|
|
NM_006206.6(PDGFRA):c.14A>C (p.His5Pro)
|
|
|
NM_006206.6(PDGFRA):c.14A>G (p.His5Arg)
|
rs776018656
|
|
NM_006206.6(PDGFRA):c.1508C>A (p.Ala503Asp)
|
rs1723541535
|
|
NM_006206.6(PDGFRA):c.1510A>G (p.Lys504Glu)
|
rs1723541727
|
|
NM_006206.6(PDGFRA):c.1514A>G (p.Asn505Ser)
|
rs1723542342
|
|
NM_006206.6(PDGFRA):c.1517T>G (p.Leu506Arg)
|
rs746397815
|
|
NM_006206.6(PDGFRA):c.1517_1518delinsCT (p.Leu506Pro)
|
rs1560479141
|
|
NM_006206.6(PDGFRA):c.1519C>T (p.Leu507Phe)
|
rs1723543383
|
|
NM_006206.6(PDGFRA):c.151G>A (p.Gly51Arg)
|
|
|
NM_006206.6(PDGFRA):c.151G>C (p.Gly51Arg)
|
rs1722684271
|
|
NM_006206.6(PDGFRA):c.1520T>G (p.Leu507Arg)
|
rs2110293008
|
|
NM_006206.6(PDGFRA):c.1526C>T (p.Ala509Val)
|
rs2110293083
|
|
NM_006206.6(PDGFRA):c.1528G>A (p.Glu510Lys)
|
|
|
NM_006206.6(PDGFRA):c.152G>C (p.Gly51Ala)
|
rs1722684533
|
|
NM_006206.6(PDGFRA):c.1530_1532del (p.Glu510_Asn511delinsAsp)
|
|
|
NM_006206.6(PDGFRA):c.1531A>C (p.Asn511His)
|
rs2110293155
|
|
NM_006206.6(PDGFRA):c.1533C>A (p.Asn511Lys)
|
|
|
NM_006206.6(PDGFRA):c.1533C>G (p.Asn511Lys)
|
rs1553904229
|
|
NM_006206.6(PDGFRA):c.1534C>T (p.Arg512Ter)
|
rs866988382
|
|
NM_006206.6(PDGFRA):c.1537G>A (p.Glu513Lys)
|
rs1723544952
|
|
NM_006206.6(PDGFRA):c.1539G>T (p.Glu513Asp)
|
rs1723545173
|
|
NM_006206.6(PDGFRA):c.1544A>C (p.Lys515Thr)
|
rs1723545756
|
|
NM_006206.6(PDGFRA):c.1544A>G (p.Lys515Arg)
|
rs1723545756
|
|
NM_006206.6(PDGFRA):c.1546C>G (p.Leu516Val)
|
rs763214177
|
|
NM_006206.6(PDGFRA):c.1549G>A (p.Val517Met)
|
|
|
NM_006206.6(PDGFRA):c.1552G>A (p.Ala518Thr)
|
|
|
NM_006206.6(PDGFRA):c.1552G>T (p.Ala518Ser)
|
rs372546959
|
|
NM_006206.6(PDGFRA):c.1555C>T (p.Pro519Ser)
|
|
|
NM_006206.6(PDGFRA):c.1557C>T (p.Pro519=)
|
rs2110293461
|
|
NM_006206.6(PDGFRA):c.1558+1G>T
|
|
|
NM_006206.6(PDGFRA):c.1558A>G (p.Thr520Ala)
|
rs1723547033
|
|
NM_006206.6(PDGFRA):c.1559-10T>G
|
rs1015210113
|
|
NM_006206.6(PDGFRA):c.1562T>C (p.Leu521Pro)
|
|
|
NM_006206.6(PDGFRA):c.1564C>T (p.Arg522Cys)
|
rs974033003
|
|
NM_006206.6(PDGFRA):c.1565G>C (p.Arg522Pro)
|
|
|
NM_006206.6(PDGFRA):c.1570G>T (p.Glu524Ter)
|
|
|
NM_006206.6(PDGFRA):c.1571A>T (p.Glu524Val)
|
|
|
NM_006206.6(PDGFRA):c.1576A>G (p.Thr526Ala)
|
|
|
NM_006206.6(PDGFRA):c.1576dup (p.Thr526fs)
|
rs1553904349
|
|
NM_006206.6(PDGFRA):c.157A>T (p.Ser53Cys)
|
rs2110242203
|
|
NM_006206.6(PDGFRA):c.1580_1582del (p.Val527del)
|
rs1560480010
|
|
NM_006206.6(PDGFRA):c.1585G>A (p.Ala529Thr)
|
|
|
NM_006206.6(PDGFRA):c.1585G>T (p.Ala529Ser)
|
rs1723601719
|
|
NM_006206.6(PDGFRA):c.1586C>T (p.Ala529Val)
|
|
|
NM_006206.6(PDGFRA):c.1587T>A (p.Ala529=)
|
rs1553904352
|
|
NM_006206.6(PDGFRA):c.158G>A (p.Ser53Asn)
|
rs1190592187
|
|
NM_006206.6(PDGFRA):c.158G>T (p.Ser53Ile)
|
rs1190592187
|
|
NM_006206.6(PDGFRA):c.1591G>A (p.Val531Ile)
|
rs1723602574
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
NM_006206.6(PDGFRA):c.1597G>A (p.Val533Met)
|
rs1723603347
|
|
NM_006206.6(PDGFRA):c.1597G>C (p.Val533Leu)
|
rs1723603347
|
|
NM_006206.6(PDGFRA):c.1597G>T (p.Val533Leu)
|
rs1723603347
|
|
NM_006206.6(PDGFRA):c.1606G>A (p.Val536Met)
|
rs1265135270
|
|
NM_006206.6(PDGFRA):c.160G>A (p.Glu54Lys)
|
rs1577705165
|
|
NM_006206.6(PDGFRA):c.1610T>C (p.Ile537Thr)
|
rs1723605045
|
|
NM_006206.6(PDGFRA):c.1612G>A (p.Val538Met)
|
|
|
NM_006206.6(PDGFRA):c.1612G>T (p.Val538Leu)
|
rs2110296611
|
|
NM_006206.6(PDGFRA):c.1616T>C (p.Ile539Thr)
|
rs1553904366
|
|
NM_006206.6(PDGFRA):c.1618A>G (p.Ile540Val)
|
|
|
NM_006206.6(PDGFRA):c.1618A>T (p.Ile540Phe)
|
rs1723605917
|
|
NM_006206.6(PDGFRA):c.1622C>T (p.Ser541Leu)
|
rs1723606312
|
|
NM_006206.6(PDGFRA):c.1624C>T (p.Leu542Phe)
|
rs1060501522
|
|
NM_006206.6(PDGFRA):c.1631_1632delinsGT (p.Val544Gly)
|
rs1553904374
|
|
NM_006206.6(PDGFRA):c.1633C>G (p.Leu545Val)
|
rs2110296870
|
|
NM_006206.6(PDGFRA):c.1634T>C (p.Leu545Pro)
|
rs2110296882
|
|
NM_006206.6(PDGFRA):c.1636G>C (p.Val546Leu)
|
|
|
NM_006206.6(PDGFRA):c.1636G>T (p.Val546Phe)
|
rs1233146093
|
|
NM_006206.6(PDGFRA):c.163G>T (p.Val55Leu)
|
rs773412686
|
|
NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val)
|
rs1060501500
|
|
NM_006206.6(PDGFRA):c.1642A>T (p.Ile548Phe)
|
rs1060501500
|
|
NM_006206.6(PDGFRA):c.1647G>A (p.Trp549Ter)
|
rs747156883
|
|
NM_006206.6(PDGFRA):c.1650A>T (p.Lys550Asn)
|
rs1723609635
|
|
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)
|
rs770950644
|
|
NM_006206.6(PDGFRA):c.1651C>G (p.Gln551Glu)
|
rs770950644
|
|
NM_006206.6(PDGFRA):c.1653+4G>T
|
rs1577726307
|
|
NM_006206.6(PDGFRA):c.1653+5A>G
|
rs764012027
|
|
NM_006206.6(PDGFRA):c.1653+5A>T
|
rs764012027
|
|
NM_006206.6(PDGFRA):c.1653+6T>C
|
rs1723610576
|
|
NM_006206.6(PDGFRA):c.1653G>C (p.Gln551His)
|
|
|
NM_006206.6(PDGFRA):c.1654-10T>A
|
|
|
NM_006206.6(PDGFRA):c.1657C>T (p.Pro553Ser)
|
rs992063980
|
|
NM_006206.6(PDGFRA):c.1658C>G (p.Pro553Arg)
|
rs1060501502
|
|
NM_006206.6(PDGFRA):c.1661G>T (p.Arg554Met)
|
rs761698258
|
|
NM_006206.6(PDGFRA):c.1663T>C (p.Tyr555His)
|
rs878854823
|
|
NM_006206.6(PDGFRA):c.1664A>T (p.Tyr555Phe)
|
|
|
NM_006206.6(PDGFRA):c.1672C>A (p.Arg558Ser)
|
rs765680542
|
|
NM_006206.6(PDGFRA):c.1677G>C (p.Trp559Cys)
|
rs1723630456
|
|
NM_006206.6(PDGFRA):c.1678A>T (p.Arg560Trp)
|
rs1723630857
|
|
NM_006206.6(PDGFRA):c.1679G>A (p.Arg560Lys)
|
rs1723631222
|
|
NM_006206.6(PDGFRA):c.1679G>T (p.Arg560Met)
|
rs1723631222
|
|
NM_006206.6(PDGFRA):c.1687G>C (p.Glu563Gln)
|
rs1060501510
|
|
NM_006206.6(PDGFRA):c.1689A>C (p.Glu563Asp)
|
rs753347712
|
|
NM_006206.6(PDGFRA):c.168C>A (p.Ser56Arg)
|
rs1577705191
|
|
NM_006206.6(PDGFRA):c.1693A>G (p.Ile565Val)
|
rs1178831870
|
|
NM_006206.6(PDGFRA):c.1694T>C (p.Ile565Thr)
|
rs1723632913
|
|
NM_006206.6(PDGFRA):c.1696A>C (p.Ser566Arg)
|
|
|
NM_006206.6(PDGFRA):c.1696A>G (p.Ser566Gly)
|
rs1723633126
|
|
NM_006206.6(PDGFRA):c.1697G>A (p.Ser566Asn)
|
|
|
NM_006206.6(PDGFRA):c.1697G>T (p.Ser566Ile)
|
rs1560480581
|
|
NM_006206.6(PDGFRA):c.1699C>T (p.Pro567Ser)
|
rs2110299759
|
|
NM_006206.6(PDGFRA):c.1700_1701delinsGG (p.Pro567Arg)
|
rs587778595
|
|
NM_006206.6(PDGFRA):c.1700_1701inv (p.Pro567Leu)
|
|
|
NM_006206.6(PDGFRA):c.1701_1702delinsGC (p.Asp568His)
|
|
|
NM_006206.6(PDGFRA):c.1703A>G (p.Asp568Gly)
|
|
|
NM_006206.6(PDGFRA):c.1704T>G (p.Asp568Glu)
|
rs1723635233
|
|
NM_006206.6(PDGFRA):c.1705G>A (p.Gly569Arg)
|
|
|
NM_006206.6(PDGFRA):c.1717A>G (p.Ile573Val)
|
rs1723636164
|
|
NM_006206.6(PDGFRA):c.1717A>T (p.Ile573Phe)
|
rs1723636164
|
|
NM_006206.6(PDGFRA):c.1721A>T (p.Tyr574Phe)
|
rs924618799
|
|
NM_006206.6(PDGFRA):c.1723G>C (p.Val575Leu)
|
rs935967127
|
|
NM_006206.6(PDGFRA):c.1729C>A (p.Pro577Thr)
|
rs1057519811
|
|
NM_006206.6(PDGFRA):c.172C>A (p.Gln58Lys)
|
rs1722686558
|
|
NM_006206.6(PDGFRA):c.1735C>T (p.Gln579Ter)
|
rs2110300246
|
|
NM_006206.6(PDGFRA):c.173A>G (p.Gln58Arg)
|
|
|
NM_006206.6(PDGFRA):c.1742C>T (p.Pro581Leu)
|
rs1577726967
|
|
NM_006206.6(PDGFRA):c.1748A>G (p.Asp583Gly)
|
|
|
NM_006206.6(PDGFRA):c.1749C>A (p.Asp583Glu)
|
rs769891784
|
|
NM_006206.6(PDGFRA):c.1750T>G (p.Ser584Ala)
|
rs2110300449
|
|
NM_006206.6(PDGFRA):c.1751C>T (p.Ser584Leu)
|
|
|
NM_006206.6(PDGFRA):c.1753A>G (p.Arg585Gly)
|
rs2110300499
|
|
NM_006206.6(PDGFRA):c.1754G>T (p.Arg585Ile)
|
rs1060501505
|
|
NM_006206.6(PDGFRA):c.175T>A (p.Tyr59Asn)
|
rs1577705213
|
|
NM_006206.6(PDGFRA):c.1768A>G (p.Arg590Gly)
|
rs2110300658
|
|
NM_006206.6(PDGFRA):c.1769G>C (p.Arg590Thr)
|
rs1723640047
|
|
NM_006206.6(PDGFRA):c.1771G>A (p.Asp591Asn)
|
rs1723640236
|
|
NM_006206.6(PDGFRA):c.1772A>G (p.Asp591Gly)
|
rs1723640426
|
|
NM_006206.6(PDGFRA):c.1777C>G (p.Leu593Val)
|
rs780059483
|
|
NM_006206.6(PDGFRA):c.1780G>A (p.Val594Met)
|
rs2110300821
|
|
NM_006206.6(PDGFRA):c.1780G>C (p.Val594Leu)
|
rs2110300821
|
|
NM_006206.6(PDGFRA):c.1783C>T (p.Leu595Phe)
|
rs2110300859
|
|
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro)
|
rs1723641220
|
|
NM_006206.6(PDGFRA):c.1786+4A>C
|
rs1560480825
|
|
NM_006206.6(PDGFRA):c.1786+6T>C
|
|
|
NM_006206.6(PDGFRA):c.1787-2A>G
|
|
|
NM_006206.6(PDGFRA):c.1787-5C>G
|
rs1205259367
|
|
NM_006206.6(PDGFRA):c.1787-6C>A
|
rs1723795338
|
|
NM_006206.6(PDGFRA):c.1788T>A (p.Gly596=)
|
|
|
NM_006206.6(PDGFRA):c.1792G>A (p.Val598Ile)
|
rs1723796497
|
|
NM_006206.6(PDGFRA):c.1792G>T (p.Val598Phe)
|
rs1723796497
|
|
NM_006206.6(PDGFRA):c.179C>G (p.Pro60Arg)
|
|
|
NM_006206.6(PDGFRA):c.1801T>A (p.Ser601Thr)
|
|
|
NM_006206.6(PDGFRA):c.1807G>T (p.Ala603Ser)
|
|
|
NM_006206.6(PDGFRA):c.1808C>T (p.Ala603Val)
|
rs1553904813
|
|
NM_006206.6(PDGFRA):c.1811T>C (p.Phe604Ser)
|
rs1723797699
|
|
NM_006206.6(PDGFRA):c.1820T>C (p.Val607Ala)
|
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
NM_006206.6(PDGFRA):c.1823T>C (p.Val608Ala)
|
rs1560482703
|
|
NM_006206.6(PDGFRA):c.1825G>A (p.Glu609Lys)
|
rs2110308706
|
|
NM_006206.6(PDGFRA):c.182T>C (p.Met61Thr)
|
rs1722687533
|
|
NM_006206.6(PDGFRA):c.1831A>G (p.Thr611Ala)
|
rs1723798984
|
|
NM_006206.6(PDGFRA):c.1832C>G (p.Thr611Arg)
|
rs1406857066
|
|
NM_006206.6(PDGFRA):c.1835C>T (p.Ala612Val)
|
|
|
NM_006206.6(PDGFRA):c.1838A>G (p.Tyr613Cys)
|
rs1723800050
|
|
NM_006206.6(PDGFRA):c.1840G>A (p.Gly614Arg)
|
rs1320506684
|
|
NM_006206.6(PDGFRA):c.1847G>A (p.Ser616Asn)
|
rs2110308961
|
|
NM_006206.6(PDGFRA):c.1847_1857del (p.Ser616fs)
|
|
|
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg)
|
rs780111998
|
|
NM_006206.6(PDGFRA):c.1849C>T (p.Arg617Trp)
|
rs878854825
|
|
NM_006206.6(PDGFRA):c.184T>C (p.Ser62Pro)
|
rs2110242350
|
|
NM_006206.6(PDGFRA):c.1855C>T (p.Gln619Ter)
|
|
|
NM_006206.6(PDGFRA):c.1856A>G (p.Gln619Arg)
|
rs1553904833
|
|
NM_006206.6(PDGFRA):c.1858C>T (p.Pro620Ser)
|
rs749366763
|
|
NM_006206.6(PDGFRA):c.1862T>C (p.Val621Ala)
|
|
|
NM_006206.6(PDGFRA):c.1864A>C (p.Met622Leu)
|
rs774507815
|
|
NM_006206.6(PDGFRA):c.1864A>T (p.Met622Leu)
|
rs774507815
|
|
NM_006206.6(PDGFRA):c.1866G>A (p.Met622Ile)
|
rs1723803110
|
|
NM_006206.6(PDGFRA):c.1867A>G (p.Lys623Glu)
|
|
|
NM_006206.6(PDGFRA):c.1869A>T (p.Lys623Asn)
|
rs1328605799
|
|
NM_006206.6(PDGFRA):c.1872dup (p.Ala625fs)
|
|
|
NM_006206.6(PDGFRA):c.1882A>T (p.Met628Leu)
|
|
|
NM_006206.6(PDGFRA):c.1889A>C (p.Lys630Thr)
|
|
|
NM_006206.6(PDGFRA):c.1891+1G>A
|
rs1577730344
|
|
NM_006206.6(PDGFRA):c.1891+2dup
|
rs1577730347
|
|
NM_006206.6(PDGFRA):c.1892-6C>G
|
rs2110310681
|
|
NM_006206.6(PDGFRA):c.1892C>T (p.Pro631Leu)
|
|
|
NM_006206.6(PDGFRA):c.1901G>A (p.Arg634Lys)
|
|
|
NM_006206.6(PDGFRA):c.1904C>G (p.Ser635Cys)
|
|
|
NM_006206.6(PDGFRA):c.1907G>A (p.Ser636Asn)
|
rs1723827579
|
|
NM_006206.6(PDGFRA):c.1907G>C (p.Ser636Thr)
|
rs1723827579
|
|
NM_006206.6(PDGFRA):c.1918G>A (p.Ala640Thr)
|
|
|
NM_006206.6(PDGFRA):c.1926G>A (p.Met642Ile)
|
rs1553904882
|
|
NM_006206.6(PDGFRA):c.1927T>A (p.Ser643Thr)
|
|
|
NM_006206.6(PDGFRA):c.1928C>G (p.Ser643Cys)
|
rs1723828172
|
|
NM_006206.6(PDGFRA):c.1933C>G (p.Leu645Val)
|
|
|
NM_006206.6(PDGFRA):c.1940T>C (p.Ile647Thr)
|
|
|
NM_006206.6(PDGFRA):c.1946C>T (p.Thr649Ile)
|
rs2110311482
|
|
NM_006206.6(PDGFRA):c.1949_1955del (p.His650fs)
|
rs1723828894
|
|
NM_006206.6(PDGFRA):c.194A>G (p.Glu65Gly)
|
|
|
NM_006206.6(PDGFRA):c.194A>T (p.Glu65Val)
|
|
|
NM_006206.6(PDGFRA):c.1954G>T (p.Gly652Trp)
|
|
|
NM_006206.6(PDGFRA):c.1961A>T (p.His654Leu)
|
|
|
NM_006206.6(PDGFRA):c.1963T>A (p.Leu655Met)
|
rs1279735973
|
|
NM_006206.6(PDGFRA):c.1963T>G (p.Leu655Val)
|
rs1279735973
|
|
NM_006206.6(PDGFRA):c.1964T>G (p.Leu655Trp)
|
rs1723830351
|
|
NM_006206.6(PDGFRA):c.1966A>G (p.Asn656Asp)
|
|
|
NM_006206.6(PDGFRA):c.1969A>G (p.Ile657Val)
|
rs1723830733
|
|
NM_006206.6(PDGFRA):c.196A>C (p.Ser66Arg)
|
rs143783500
|
|
NM_006206.6(PDGFRA):c.196A>G (p.Ser66Gly)
|
rs143783500
|
|
NM_006206.6(PDGFRA):c.1972G>T (p.Val658Leu)
|
|
|
NM_006206.6(PDGFRA):c.197G>T (p.Ser66Ile)
|
rs1577705273
|
|
NM_006206.6(PDGFRA):c.1984G>A (p.Gly662Arg)
|
|
|
NM_006206.6(PDGFRA):c.1987G>A (p.Ala663Thr)
|
|
|
NM_006206.6(PDGFRA):c.1988C>G (p.Ala663Gly)
|
|
|
NM_006206.6(PDGFRA):c.198C>A (p.Ser66Arg)
|
|
|
NM_006206.6(PDGFRA):c.198C>G (p.Ser66Arg)
|
rs1722688940
|
|
NM_006206.6(PDGFRA):c.1991G>A (p.Cys664Tyr)
|
rs1577730986
|
|
NM_006206.6(PDGFRA):c.1995del (p.Lys666fs)
|
|
|
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn)
|
rs1723832515
|
|
NM_006206.6(PDGFRA):c.1998_1999delinsTC (p.Lys666_Ser667delinsAsnPro)
|
rs1723832698
|
|
NM_006206.6(PDGFRA):c.1999T>A (p.Ser667Thr)
|
|
|
NM_006206.6(PDGFRA):c.19G>T (p.Ala7Ser)
|
rs1467619698
|
|
NM_006206.6(PDGFRA):c.1A>G (p.Met1Val)
|
|
|
NM_006206.6(PDGFRA):c.1A>T (p.Met1Leu)
|
|
|
NM_006206.6(PDGFRA):c.2002+1G>A
|
rs1723833294
|
|
NM_006206.6(PDGFRA):c.2002+3G>A
|
|
|
NM_006206.6(PDGFRA):c.2002+4G>A
|
rs748849639
|
|
NM_006206.6(PDGFRA):c.2002+4G>C
|
|
|
NM_006206.6(PDGFRA):c.2002+4G>T
|
|
|
NM_006206.6(PDGFRA):c.2002+5G>C
|
|
|
NM_006206.6(PDGFRA):c.2002+5G>T
|
|
|
NM_006206.6(PDGFRA):c.2002+6C>A
|
rs1333764312
|
|
NM_006206.6(PDGFRA):c.2002+6C>T
|
rs1333764312
|
|
NM_006206.6(PDGFRA):c.2003-18C>A
|
|
|
NM_006206.6(PDGFRA):c.2003-1G>A
|
|
|
NM_006206.6(PDGFRA):c.2003-7C>A
|
rs886059447
|
|
NM_006206.6(PDGFRA):c.2003G>A (p.Gly668Asp)
|
rs1723871084
|
|
NM_006206.6(PDGFRA):c.2005C>G (p.Pro669Ala)
|
rs768124156
|
|
NM_006206.6(PDGFRA):c.2005C>T (p.Pro669Ser)
|
rs768124156
|
|
NM_006206.6(PDGFRA):c.200C>G (p.Ser67Cys)
|
|
|
NM_006206.6(PDGFRA):c.2012A>G (p.Tyr671Cys)
|
|
|
NM_006206.6(PDGFRA):c.2014A>G (p.Ile672Val)
|
rs1723872066
|
|
NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile)
|
rs121908587
|
|
NM_006206.6(PDGFRA):c.2026T>C (p.Tyr676His)
|
rs747598419
|
|
NM_006206.6(PDGFRA):c.202G>C (p.Asp68His)
|
rs1060501504
|
|
NM_006206.6(PDGFRA):c.202G>T (p.Asp68Tyr)
|
|
|
NM_006206.6(PDGFRA):c.2038G>A (p.Gly680Arg)
|
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
NM_006206.6(PDGFRA):c.2048T>C (p.Val683Ala)
|
rs761133809
|
|
NM_006206.6(PDGFRA):c.2050A>C (p.Asn684His)
|
|
|
NM_006206.6(PDGFRA):c.2051A>G (p.Asn684Ser)
|
|
|
NM_006206.6(PDGFRA):c.2058G>C (p.Leu686Phe)
|
rs2110315566
|
|
NM_006206.6(PDGFRA):c.205G>A (p.Val69Met)
|
rs1363843815
|
|
NM_006206.6(PDGFRA):c.2060A>G (p.His687Arg)
|
|
|
NM_006206.6(PDGFRA):c.2060A>T (p.His687Leu)
|
rs1577731982
|
|
NM_006206.6(PDGFRA):c.2062A>G (p.Lys688Glu)
|
|
|
NM_006206.6(PDGFRA):c.2063A>G (p.Lys688Arg)
|
|
|
NM_006206.6(PDGFRA):c.2066A>G (p.Asn689Ser)
|
rs2110315707
|
|
NM_006206.6(PDGFRA):c.2067T>G (p.Asn689Lys)
|
rs1723875775
|
|
NM_006206.6(PDGFRA):c.2068A>G (p.Arg690Gly)
|
rs2110315746
|
|
NM_006206.6(PDGFRA):c.2069G>C (p.Arg690Thr)
|
|
|
NM_006206.6(PDGFRA):c.206T>A (p.Val69Glu)
|
rs757101121
|
|
NM_006206.6(PDGFRA):c.206T>C (p.Val69Ala)
|
rs757101121
|
|
NM_006206.6(PDGFRA):c.2071G>A (p.Asp691Asn)
|
|
|
NM_006206.6(PDGFRA):c.2074A>G (p.Ser692Gly)
|
rs1723876482
|
|
NM_006206.6(PDGFRA):c.2075G>T (p.Ser692Ile)
|
rs371065167
|
|
NM_006206.6(PDGFRA):c.2080C>G (p.Leu694Val)
|
|
|
NM_006206.6(PDGFRA):c.2086C>T (p.His696Tyr)
|
rs1560483777
|
|
NM_006206.6(PDGFRA):c.208G>A (p.Glu70Lys)
|
rs1722690788
|
|
NM_006206.6(PDGFRA):c.2092C>T (p.Pro698Ser)
|
|
|
NM_006206.6(PDGFRA):c.2093C>A (p.Pro698Gln)
|
rs2110316097
|
|
NM_006206.6(PDGFRA):c.20C>T (p.Ala7Val)
|
rs764472307
|
|
NM_006206.6(PDGFRA):c.2104A>G (p.Lys702Glu)
|
|
|
NM_006206.6(PDGFRA):c.2104A>T (p.Lys702Ter)
|
|
|
NM_006206.6(PDGFRA):c.2105A>G (p.Lys702Arg)
|
rs1388944809
|
|
NM_006206.6(PDGFRA):c.2106G>C (p.Lys702Asn)
|
rs2110316316
|
|
NM_006206.6(PDGFRA):c.2107A>G (p.Lys703Glu)
|
|
|
NM_006206.6(PDGFRA):c.210A>C (p.Glu70Asp)
|
rs1722690992
|
|
NM_006206.6(PDGFRA):c.2110G>C (p.Glu704Gln)
|
rs2110316375
|
|
NM_006206.6(PDGFRA):c.2114T>G (p.Leu705Arg)
|
rs1577732126
|
|
NM_006206.6(PDGFRA):c.2116G>T (p.Asp706Tyr)
|
|
|
NM_006206.6(PDGFRA):c.2117A>G (p.Asp706Gly)
|
rs764225560
|
|
NM_006206.6(PDGFRA):c.211A>T (p.Ile71Phe)
|
rs1553902408
|
|
NM_006206.6(PDGFRA):c.2128T>G (p.Leu710Val)
|
rs1723881410
|
|
NM_006206.6(PDGFRA):c.212T>C (p.Ile71Thr)
|
rs1577705348
|
|
NM_006206.6(PDGFRA):c.2131A>G (p.Asn711Asp)
|
rs756055115
|
|
NM_006206.6(PDGFRA):c.2132A>G (p.Asn711Ser)
|
rs1553905039
|
|
NM_006206.6(PDGFRA):c.2134C>G (p.Pro712Ala)
|
|
|
NM_006206.6(PDGFRA):c.2137G>A (p.Ala713Thr)
|
rs1191626640
|
|
NM_006206.6(PDGFRA):c.2141A>T (p.Asp714Val)
|
rs1560483897
|
|
NM_006206.6(PDGFRA):c.2146A>C (p.Ser716Arg)
|
rs1553905049
|
|
NM_006206.6(PDGFRA):c.2146A>G (p.Ser716Gly)
|
rs1553905049
|
|
NM_006206.6(PDGFRA):c.214A>G (p.Arg72Gly)
|
|
|
NM_006206.6(PDGFRA):c.2150C>T (p.Thr717Ile)
|
rs1553905051
|
|
NM_006206.6(PDGFRA):c.2152C>G (p.Arg718Gly)
|
rs375434317
|
|
NM_006206.6(PDGFRA):c.2153G>T (p.Arg718Leu)
|
rs367722824
|
|
NM_006206.6(PDGFRA):c.2155dup (p.Ser719fs)
|
|
|
NM_006206.6(PDGFRA):c.2156+17A>G
|
rs2110317278
|
|
NM_006206.6(PDGFRA):c.2156+3G>A
|
|
|
NM_006206.6(PDGFRA):c.2156+3G>C
|
rs1723885021
|
|
NM_006206.6(PDGFRA):c.2156+3G>T
|
rs1723885021
|
|
NM_006206.6(PDGFRA):c.2156+4G>A
|
rs1723885245
|
|
NM_006206.6(PDGFRA):c.2156+4G>C
|
|
|
NM_006206.6(PDGFRA):c.2159A>G (p.Tyr720Cys)
|
rs1352839721
|
|
NM_006206.6(PDGFRA):c.2161G>A (p.Val721Ile)
|
|
|
NM_006206.6(PDGFRA):c.2162T>G (p.Val721Gly)
|
rs1723999711
|
|
NM_006206.6(PDGFRA):c.2164A>T (p.Ile722Phe)
|
rs1553905278
|
|
NM_006206.6(PDGFRA):c.2176G>C (p.Glu726Gln)
|
rs1553905281
|
|
NM_006206.6(PDGFRA):c.2178A>G (p.Glu726=)
|
rs2110323397
|
|
NM_006206.6(PDGFRA):c.2181C>G (p.Asn727Lys)
|
|
|
NM_006206.6(PDGFRA):c.2182A>G (p.Asn728Asp)
|
|
|
NM_006206.6(PDGFRA):c.2183A>G (p.Asn728Ser)
|
rs2110323443
|
|
NM_006206.6(PDGFRA):c.2184T>G (p.Asn728Lys)
|
rs1724001799
|
|
NM_006206.6(PDGFRA):c.2186G>T (p.Gly729Val)
|
rs1458825658
|
|
NM_006206.6(PDGFRA):c.2189A>T (p.Asp730Val)
|
rs2110323522
|
|
NM_006206.6(PDGFRA):c.218A>G (p.Asn73Ser)
|
|
|
NM_006206.6(PDGFRA):c.2190C>A (p.Asp730Glu)
|
rs1577734762
|
|
NM_006206.6(PDGFRA):c.2194A>C (p.Met732Leu)
|
rs749523527
|
|
NM_006206.6(PDGFRA):c.2194A>G (p.Met732Val)
|
rs749523527
|
|
NM_006206.6(PDGFRA):c.2194A>T (p.Met732Leu)
|
|
|
NM_006206.6(PDGFRA):c.2195T>C (p.Met732Thr)
|
|
|
NM_006206.6(PDGFRA):c.2196G>A (p.Met732Ile)
|
rs1724003134
|
|
NM_006206.6(PDGFRA):c.2197G>A (p.Asp733Asn)
|
rs1724003326
|
|
NM_006206.6(PDGFRA):c.2197G>T (p.Asp733Tyr)
|
rs1724003326
|
|
NM_006206.6(PDGFRA):c.219T>A (p.Asn73Lys)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.2204_2205insAT (p.Gln736fs)
|
rs1724004184
|
|
NM_006206.6(PDGFRA):c.2207A>C (p.Gln736Pro)
|
rs1724004363
|
|
NM_006206.6(PDGFRA):c.2212G>A (p.Asp738Asn)
|
rs1370672831
|
|
NM_006206.6(PDGFRA):c.2215A>T (p.Thr739Ser)
|
rs766379425
|
|
NM_006206.6(PDGFRA):c.2218A>G (p.Thr740Ala)
|
|
|
NM_006206.6(PDGFRA):c.2219C>T (p.Thr740Ile)
|
|
|
NM_006206.6(PDGFRA):c.2222A>C (p.Gln741Pro)
|
|
|
NM_006206.6(PDGFRA):c.2222A>G (p.Gln741Arg)
|
rs141704268
|
|
NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr)
|
rs1368223217
|
|
NM_006206.6(PDGFRA):c.2235G>T (p.Met745Ile)
|
|
|
NM_006206.6(PDGFRA):c.223G>C (p.Glu75Gln)
|
rs1285564229
|
|
NM_006206.6(PDGFRA):c.2241A>T (p.Glu747Asp)
|
|
|
NM_006206.6(PDGFRA):c.2243G>A (p.Arg748Lys)
|
rs2110324276
|
|
NM_006206.6(PDGFRA):c.2245A>C (p.Lys749Gln)
|
rs1260734299
|
|
NM_006206.6(PDGFRA):c.2248G>A (p.Glu750Lys)
|
rs2110324335
|
|
NM_006206.6(PDGFRA):c.2250G>T (p.Glu750Asp)
|
rs751123873
|
|
NM_006206.6(PDGFRA):c.2251G>T (p.Val751Phe)
|
rs1560485346
|
|
NM_006206.6(PDGFRA):c.2255C>T (p.Ser752Phe)
|
rs1553905300
|
|
NM_006206.6(PDGFRA):c.2260T>C (p.Tyr754His)
|
rs536663502
|
|
NM_006206.6(PDGFRA):c.2266G>T (p.Asp756Tyr)
|
rs555347387
|
|
NM_006206.6(PDGFRA):c.2276G>C (p.Arg759Thr)
|
rs1724012158
|
|
NM_006206.6(PDGFRA):c.2277A>T (p.Arg759Ser)
|
|
|
NM_006206.6(PDGFRA):c.2279C>T (p.Ser760Leu)
|
|
|
NM_006206.6(PDGFRA):c.227A>G (p.Asn76Ser)
|
rs1553902415
|
|
NM_006206.6(PDGFRA):c.2281C>G (p.Leu761Val)
|
|
|
NM_006206.6(PDGFRA):c.2281C>T (p.Leu761Phe)
|
|
|
NM_006206.6(PDGFRA):c.2284T>C (p.Tyr762His)
|
rs2110324715
|
|
NM_006206.6(PDGFRA):c.2284dup (p.Tyr762fs)
|
rs1724013061
|
|
NM_006206.6(PDGFRA):c.2287G>A (p.Asp763Asn)
|
|
|
NM_006206.6(PDGFRA):c.2287G>C (p.Asp763His)
|
rs1724013488
|
|
NM_006206.6(PDGFRA):c.2290C>A (p.Arg764Ser)
|
|
|
NM_006206.6(PDGFRA):c.2291G>T (p.Arg764Leu)
|
rs141047712
|
|
NM_006206.6(PDGFRA):c.2293C>T (p.Pro765Ser)
|
rs1325295795
|
|
NM_006206.6(PDGFRA):c.229A>C (p.Asn77His)
|
|
|
NM_006206.6(PDGFRA):c.229A>G (p.Asn77Asp)
|
|
|
NM_006206.6(PDGFRA):c.2302T>C (p.Tyr768His)
|
rs778762046
|
|
NM_006206.6(PDGFRA):c.2306A>G (p.Lys769Arg)
|
rs373061721
|
|
NM_006206.6(PDGFRA):c.230A>G (p.Asn77Ser)
|
rs1553902417
|
|
NM_006206.6(PDGFRA):c.2312A>C (p.Lys771Thr)
|
rs1724016377
|
|
NM_006206.6(PDGFRA):c.2313A>C (p.Lys771Asn)
|
|
|
NM_006206.6(PDGFRA):c.2315C>A (p.Ser772Tyr)
|
rs1577735147
|
|
NM_006206.6(PDGFRA):c.2317_2318del (p.Met773fs)
|
rs1724016830
|
|
NM_006206.6(PDGFRA):c.2318T>C (p.Met773Thr)
|
|
|
NM_006206.6(PDGFRA):c.2323+5A>C
|
rs1724017509
|
|
NM_006206.6(PDGFRA):c.2323+6A>C
|
|
|
NM_006206.6(PDGFRA):c.2324-1G>C
|
rs1577741394
|
|
NM_006206.6(PDGFRA):c.2324-2A>G
|
|
|
NM_006206.6(PDGFRA):c.2324-3C>T
|
|
|
NM_006206.6(PDGFRA):c.2324A>G (p.Asp775Gly)
|
rs1724287313
|
|
NM_006206.6(PDGFRA):c.2325C>A (p.Asp775Glu)
|
|
|
NM_006206.6(PDGFRA):c.2326T>G (p.Ser776Ala)
|
rs1553905944
|
|
NM_006206.6(PDGFRA):c.2329_2330del (p.Glu777fs)
|
|
|
NM_006206.6(PDGFRA):c.2332G>A (p.Val778Ile)
|
rs200808048
|
|
NM_006206.6(PDGFRA):c.2335A>G (p.Lys779Glu)
|
rs2110335436
|
|
NM_006206.6(PDGFRA):c.2336A>G (p.Lys779Arg)
|
|
|
NM_006206.6(PDGFRA):c.2336A>T (p.Lys779Ile)
|
|
|
NM_006206.6(PDGFRA):c.2336_2341del (p.Lys779_Leu781delinsIle)
|
rs2110335440
|
|
NM_006206.6(PDGFRA):c.2337A>C (p.Lys779Asn)
|
rs1553905957
|
|
NM_006206.6(PDGFRA):c.233G>A (p.Ser78Asn)
|
rs1560466833
|
|
NM_006206.6(PDGFRA):c.2341C>T (p.Leu781Phe)
|
rs757362953
|
|
NM_006206.6(PDGFRA):c.2342T>A (p.Leu781His)
|
rs1724299939
|
|
NM_006206.6(PDGFRA):c.2342T>G (p.Leu781Arg)
|
|
|
NM_006206.6(PDGFRA):c.2344C>G (p.Leu782Val)
|
rs1577741455
|
|
NM_006206.6(PDGFRA):c.2345T>A (p.Leu782His)
|
rs2110335494
|
|
NM_006206.6(PDGFRA):c.2350G>T (p.Asp784Tyr)
|
rs1553905962
|
|
NM_006206.6(PDGFRA):c.2351A>G (p.Asp784Gly)
|
rs900860957
|
|
NM_006206.6(PDGFRA):c.2351A>T (p.Asp784Val)
|
rs900860957
|
|
NM_006206.6(PDGFRA):c.2354A>G (p.Asp785Gly)
|
rs1553905964
|
|
NM_006206.6(PDGFRA):c.2354A>T (p.Asp785Val)
|
rs1553905964
|
|
NM_006206.6(PDGFRA):c.2356A>T (p.Asn786Tyr)
|
rs1351841980
|
|
NM_006206.6(PDGFRA):c.2357A>T (p.Asn786Ile)
|
|
|
NM_006206.6(PDGFRA):c.2358C>G (p.Asn786Lys)
|
rs749224305
|
|
NM_006206.6(PDGFRA):c.2364A>C (p.Glu788Asp)
|
rs1724302022
|
|
NM_006206.6(PDGFRA):c.2365G>C (p.Gly789Arg)
|
rs999271001
|
|
NM_006206.6(PDGFRA):c.236G>T (p.Gly79Val)
|
|
|
NM_006206.6(PDGFRA):c.2372C>T (p.Thr791Ile)
|
|
|
NM_006206.6(PDGFRA):c.2374T>A (p.Leu792Ile)
|
|
|
NM_006206.6(PDGFRA):c.2376A>T (p.Leu792Phe)
|
rs1724302868
|
|
NM_006206.6(PDGFRA):c.2378T>G (p.Leu793Trp)
|
rs1724303183
|
|
NM_006206.6(PDGFRA):c.2379G>A (p.Leu793=)
|
rs1724303354
|
|
NM_006206.6(PDGFRA):c.2379G>T (p.Leu793Phe)
|
rs1724303354
|
|
NM_006206.6(PDGFRA):c.2380G>A (p.Asp794Asn)
|
rs1560488952
|
|
NM_006206.6(PDGFRA):c.2380G>C (p.Asp794His)
|
|
|
NM_006206.6(PDGFRA):c.2380_2385del (p.Asp794_Leu795del)
|
rs2110335723
|
|
NM_006206.6(PDGFRA):c.2381A>G (p.Asp794Gly)
|
rs1195815525
|
|
NM_006206.6(PDGFRA):c.238C>A (p.Leu80Ile)
|
|
|
NM_006206.6(PDGFRA):c.2395A>G (p.Thr799Ala)
|
rs1221831022
|
|
NM_006206.6(PDGFRA):c.2399A>G (p.Tyr800Cys)
|
rs1724304854
|
|
NM_006206.6(PDGFRA):c.2404G>T (p.Val802Phe)
|
rs1560488985
|
|
NM_006206.6(PDGFRA):c.241T>G (p.Phe81Val)
|
rs1722694048
|
|
NM_006206.6(PDGFRA):c.2432C>T (p.Ser811Leu)
|
rs2110336156
|
|
NM_006206.6(PDGFRA):c.2435A>G (p.Lys812Arg)
|
rs1724306561
|
|
NM_006206.6(PDGFRA):c.2437A>C (p.Asn813His)
|
rs1210337394
|
|
NM_006206.6(PDGFRA):c.2439+1G>A
|
|
|
NM_006206.6(PDGFRA):c.2439+3A>G
|
|
|
NM_006206.6(PDGFRA):c.2449C>G (p.Arg817Gly)
|
rs776099721
|
|
NM_006206.6(PDGFRA):c.244G>A (p.Val82Met)
|
rs768193197
|
|
NM_006206.6(PDGFRA):c.244G>C (p.Val82Leu)
|
rs768193197
|
|
NM_006206.6(PDGFRA):c.244G>T (p.Val82Leu)
|
rs768193197
|
|
NM_006206.6(PDGFRA):c.2450G>A (p.Arg817His)
|
|
|
NM_006206.6(PDGFRA):c.2464C>T (p.Arg822Cys)
|
rs2110337611
|
|
NM_006206.6(PDGFRA):c.2472CCT[1] (p.Leu826del)
|
rs1724329978
|
|
NM_006206.6(PDGFRA):c.2479G>A (p.Ala827Thr)
|
rs1560489433
|
|
NM_006206.6(PDGFRA):c.2480C>A (p.Ala827Glu)
|
|
|
NM_006206.6(PDGFRA):c.2489A>G (p.Lys830Arg)
|
rs1577742285
|
|
NM_006206.6(PDGFRA):c.248C>G (p.Thr83Arg)
|
rs779332376
|
|
NM_006206.6(PDGFRA):c.2490A>C (p.Lys830Asn)
|
rs2110337815
|
|
NM_006206.6(PDGFRA):c.2490A>T (p.Lys830Asn)
|
|
|
NM_006206.6(PDGFRA):c.2513G>A (p.Gly838Asp)
|
|
|
NM_006206.6(PDGFRA):c.2517G>A (p.Leu839=)
|
rs1213039385
|
|
NM_006206.6(PDGFRA):c.2532G>A (p.Met844Ile)
|
|
|
NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr)
|
rs1057519814
|
|
NM_006206.6(PDGFRA):c.2536G>A (p.Asp846Asn)
|
|
|
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)
|
rs121908588
|
|
NM_006206.6(PDGFRA):c.2540C>A (p.Ser847Ter)
|
rs377487797
|
|
NM_006206.6(PDGFRA):c.2540C>G (p.Ser847Trp)
|
|
|
NM_006206.6(PDGFRA):c.2544del (p.Tyr849fs)
|
|
|
NM_006206.6(PDGFRA):c.2548G>A (p.Val850Met)
|
rs1560489674
|
|
NM_006206.6(PDGFRA):c.2552C>T (p.Ser851Leu)
|
rs745464928
|
|
NM_006206.6(PDGFRA):c.2556A>G (p.Lys852=)
|
rs774809808
|
|
NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp)
|
rs763576329
|
|
NM_006206.6(PDGFRA):c.2560A>G (p.Ser854Gly)
|
|
|
NM_006206.6(PDGFRA):c.2561G>A (p.Ser854Asn)
|
|
|
NM_006206.6(PDGFRA):c.2562+12_2562+13inv
|
|
|
NM_006206.6(PDGFRA):c.2562+15_2562+27del
|
|
|
NM_006206.6(PDGFRA):c.2562+2T>C
|
rs2110338469
|
|
NM_006206.6(PDGFRA):c.2562+5G>A
|
rs1005626657
|
|
NM_006206.6(PDGFRA):c.2562T>A (p.Ser854Arg)
|
rs1164252451
|
|
NM_006206.6(PDGFRA):c.2562T>C (p.Ser854=)
|
|
|
NM_006206.6(PDGFRA):c.2563-3C>G
|
rs2110341114
|
|
NM_006206.6(PDGFRA):c.2563A>G (p.Thr855Ala)
|
rs2110341131
|
|
NM_006206.6(PDGFRA):c.2564C>A (p.Thr855Asn)
|
rs1222441176
|
|
NM_006206.6(PDGFRA):c.256G>A (p.Glu86Lys)
|
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
NM_006206.6(PDGFRA):c.2579A>G (p.Lys860Arg)
|
|
|
NM_006206.6(PDGFRA):c.257A>G (p.Glu86Gly)
|
rs773726970
|
|
NM_006206.6(PDGFRA):c.2591C>T (p.Pro864Leu)
|
rs2110341295
|
|
NM_006206.6(PDGFRA):c.259G>A (p.Val87Met)
|
rs1722696914
|
|
NM_006206.6(PDGFRA):c.25C>G (p.Leu9Val)
|
rs375117626
|
|
NM_006206.6(PDGFRA):c.2605G>A (p.Asp869Asn)
|
rs2110341381
|
|
NM_006206.6(PDGFRA):c.2606_2610dup (p.Leu871fs)
|
rs1724415984
|
|
NM_006206.6(PDGFRA):c.2607C>A (p.Asp869Glu)
|
|
|
NM_006206.6(PDGFRA):c.2609A>G (p.Asn870Ser)
|
rs1553906267
|
|
NM_006206.6(PDGFRA):c.2614T>C (p.Tyr872His)
|
rs2110341437
|
|
NM_006206.6(PDGFRA):c.2615A>G (p.Tyr872Cys)
|
rs2110341444
|
|
NM_006206.6(PDGFRA):c.2618C>A (p.Thr873Asn)
|
rs1724416614
|
|
NM_006206.6(PDGFRA):c.2618C>G (p.Thr873Ser)
|
|
|
NM_006206.6(PDGFRA):c.262A>C (p.Ser88Arg)
|
|
|
NM_006206.6(PDGFRA):c.2635T>C (p.Trp879Arg)
|
|
|
NM_006206.6(PDGFRA):c.263G>C (p.Ser88Thr)
|
rs1060501515
|
|
NM_006206.6(PDGFRA):c.2641T>A (p.Tyr881Asn)
|
rs2110341633
|
|
NM_006206.6(PDGFRA):c.2657G>A (p.Trp886Ter)
|
rs1724417532
|
|
NM_006206.6(PDGFRA):c.265A>G (p.Ser89Gly)
|
rs2110243056
|
|
NM_006206.6(PDGFRA):c.266G>A (p.Ser89Asn)
|
|
|
NM_006206.6(PDGFRA):c.2671C>T (p.Leu891Phe)
|
|
|
NM_006206.6(PDGFRA):c.2674+4T>C
|
rs1560490962
|
|
NM_006206.6(PDGFRA):c.2674+5G>A
|
|
|
NM_006206.6(PDGFRA):c.2674+5G>T
|
rs1553906278
|
|
NM_006206.6(PDGFRA):c.2674+6G>A
|
rs886059448
|
|
NM_006206.6(PDGFRA):c.2675-1G>A
|
rs1724477959
|
|
NM_006206.6(PDGFRA):c.2677G>A (p.Gly893Ser)
|
rs1577745913
|
|
NM_006206.6(PDGFRA):c.2677G>T (p.Gly893Cys)
|
rs1577745913
|
|
NM_006206.6(PDGFRA):c.2678G>T (p.Gly893Val)
|
|
|
NM_006206.6(PDGFRA):c.2681C>A (p.Thr894Asn)
|
rs1194156035
|
|
NM_006206.6(PDGFRA):c.268G>A (p.Ala90Thr)
|
|
|
NM_006206.6(PDGFRA):c.2691del (p.Gly898fs)
|
|
|
NM_006206.6(PDGFRA):c.2695A>G (p.Met899Val)
|
rs2110344471
|
|
NM_006206.6(PDGFRA):c.2698A>T (p.Met900Leu)
|
rs1553906446
|
|
NM_006206.6(PDGFRA):c.269C>G (p.Ala90Gly)
|
rs1722697797
|
|
NM_006206.6(PDGFRA):c.26T>C (p.Leu9Pro)
|
rs1722518582
|
|
NM_006206.6(PDGFRA):c.2700G>A (p.Met900Ile)
|
|
|
NM_006206.6(PDGFRA):c.2701G>T (p.Val901Leu)
|
rs1577745988
|
|
NM_006206.6(PDGFRA):c.2703G>A (p.Val901=)
|
rs1724480118
|
|
NM_006206.6(PDGFRA):c.2708C>T (p.Ser903Phe)
|
rs2110344549
|
|
NM_006206.6(PDGFRA):c.2710A>G (p.Thr904Ala)
|
rs1577745995
|
|
NM_006206.6(PDGFRA):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_006206.6(PDGFRA):c.271T>G (p.Ser91Ala)
|
|
|
NM_006206.6(PDGFRA):c.2720A>G (p.Asn907Ser)
|
rs1560491697
|
|
NM_006206.6(PDGFRA):c.2722A>G (p.Lys908Glu)
|
rs1161645651
|
|
NM_006206.6(PDGFRA):c.2725A>T (p.Ile909Phe)
|
rs1060501509
|
|
NM_006206.6(PDGFRA):c.2730G>C (p.Lys910Asn)
|
rs1724482523
|
|
NM_006206.6(PDGFRA):c.2732G>A (p.Ser911Asn)
|
rs1317114941
|
|
NM_006206.6(PDGFRA):c.2732G>T (p.Ser911Ile)
|
rs1317114941
|
|
NM_006206.6(PDGFRA):c.2739C>G (p.Tyr913Ter)
|
|
|
NM_006206.6(PDGFRA):c.2740C>T (p.Arg914Trp)
|
rs1560491736
|
|
NM_006206.6(PDGFRA):c.2741G>A (p.Arg914Gln)
|
rs1428997941
|
|
NM_006206.6(PDGFRA):c.2741G>T (p.Arg914Leu)
|
|
|
NM_006206.6(PDGFRA):c.2747C>G (p.Ala916Gly)
|
rs1403858596
|
|
NM_006206.6(PDGFRA):c.2747C>T (p.Ala916Val)
|
rs1403858596
|
|
NM_006206.6(PDGFRA):c.2750_2759dup (p.His920delinsGlnAlaTer)
|
|
|
NM_006206.6(PDGFRA):c.2757C>G (p.Asp919Glu)
|
rs1189646004
|
|
NM_006206.6(PDGFRA):c.2758C>A (p.His920Asn)
|
|
|
NM_006206.6(PDGFRA):c.2759A>G (p.His920Arg)
|
rs1724486508
|
|
NM_006206.6(PDGFRA):c.2764A>C (p.Thr922Pro)
|
rs1560491769
|
|
NM_006206.6(PDGFRA):c.2764A>G (p.Thr922Ala)
|
|
|
NM_006206.6(PDGFRA):c.2765C>T (p.Thr922Ile)
|
rs977162554
|
|
NM_006206.6(PDGFRA):c.2768G>A (p.Ser923Asn)
|
rs1060501511
|
|
NM_006206.6(PDGFRA):c.2768G>C (p.Ser923Thr)
|
rs1060501511
|
|
NM_006206.6(PDGFRA):c.2773G>A (p.Val925Ile)
|
rs1724488557
|
|
NM_006206.6(PDGFRA):c.2774+2T>G
|
|
|
NM_006206.6(PDGFRA):c.2774+6C>T
|
rs1060501517
|
|
NM_006206.6(PDGFRA):c.2775C>T (p.Val925=)
|
rs1577746412
|
|
NM_006206.6(PDGFRA):c.2779G>A (p.Glu927Lys)
|
rs267600187
|
|
NM_006206.6(PDGFRA):c.2784C>G (p.Ile928Met)
|
rs764838149
|
|
NM_006206.6(PDGFRA):c.2788G>A (p.Val930Met)
|
rs1724498597
|
|
NM_006206.6(PDGFRA):c.2788G>C (p.Val930Leu)
|
|
|
NM_006206.6(PDGFRA):c.2788G>T (p.Val930Leu)
|
rs1724498597
|
|
NM_006206.6(PDGFRA):c.2789T>G (p.Val930Gly)
|
|
|
NM_006206.6(PDGFRA):c.278C>A (p.Ala93Asp)
|
rs752669159
|
|
NM_006206.6(PDGFRA):c.278C>T (p.Ala93Val)
|
rs752669159
|
|
NM_006206.6(PDGFRA):c.2792A>C (p.Lys931Thr)
|
rs1724499165
|
|
NM_006206.6(PDGFRA):c.2792A>G (p.Lys931Arg)
|
rs1724499165
|
|
NM_006206.6(PDGFRA):c.2795G>A (p.Cys932Tyr)
|
rs1724499483
|
|
NM_006206.6(PDGFRA):c.2800A>C (p.Asn934His)
|
|
|
NM_006206.6(PDGFRA):c.2802C>A (p.Asn934Lys)
|
rs1577746460
|
|
NM_006206.6(PDGFRA):c.2803A>G (p.Ser935Gly)
|
|
|
NM_006206.6(PDGFRA):c.2804G>C (p.Ser935Thr)
|
rs1724500193
|
|
NM_006206.6(PDGFRA):c.2805T>G (p.Ser935Arg)
|
rs1553906487
|
|
NM_006206.6(PDGFRA):c.2806G>A (p.Glu936Lys)
|
|
|
NM_006206.6(PDGFRA):c.2809C>T (p.Pro937Ser)
|
|
|
NM_006206.6(PDGFRA):c.281A>T (p.His94Leu)
|
|
|
NM_006206.6(PDGFRA):c.2825C>T (p.Ser942Phe)
|
|
|
NM_006206.6(PDGFRA):c.2833C>G (p.His945Asp)
|
rs1724502275
|
|
NM_006206.6(PDGFRA):c.283A>G (p.Thr95Ala)
|
rs1577705610
|
|
NM_006206.6(PDGFRA):c.283A>T (p.Thr95Ser)
|
rs1577705610
|
|
NM_006206.6(PDGFRA):c.2842G>A (p.Glu948Lys)
|
rs2110345923
|
|
NM_006206.6(PDGFRA):c.2844G>C (p.Glu948Asp)
|
rs1724502571
|
|
NM_006206.6(PDGFRA):c.2847T>G (p.Ile949Met)
|
|
|
NM_006206.6(PDGFRA):c.284C>T (p.Thr95Ile)
|
|
|
NM_006206.6(PDGFRA):c.2851G>C (p.Glu951Gln)
|
rs1724502907
|
|
NM_006206.6(PDGFRA):c.2855A>C (p.Asn952Thr)
|
rs2110345940
|
|
NM_006206.6(PDGFRA):c.2856T>A (p.Asn952Lys)
|
rs1553906497
|
|
NM_006206.6(PDGFRA):c.2857C>G (p.Leu953Val)
|
|
|
NM_006206.6(PDGFRA):c.2863C>T (p.Pro955Ser)
|
rs1724503273
|
|
NM_006206.6(PDGFRA):c.2867G>A (p.Gly956Glu)
|
rs752010861
|
|
NM_006206.6(PDGFRA):c.2878A>G (p.Lys960Glu)
|
rs1680694436
|
|
NM_006206.6(PDGFRA):c.2880+1G>A
|
rs1724504713
|
|
NM_006206.6(PDGFRA):c.2880+1GT[2]
|
rs1724504809
|
|
NM_006206.6(PDGFRA):c.2880+5G>T
|
rs370128852
|
|
NM_006206.6(PDGFRA):c.2880+5del
|
|
|
NM_006206.6(PDGFRA):c.2880G>C (p.Lys960Asn)
|
rs1724504505
|
|
NM_006206.6(PDGFRA):c.2880G>T (p.Lys960Asn)
|
rs1724504505
|
|
NM_006206.6(PDGFRA):c.2881-10A>G
|
rs781711990
|
|
NM_006206.6(PDGFRA):c.2881-20T>G
|
|
|
NM_006206.6(PDGFRA):c.2882G>C (p.Ser961Thr)
|
|
|
NM_006206.6(PDGFRA):c.2889A>C (p.Glu963Asp)
|
|
|
NM_006206.6(PDGFRA):c.2892A>C (p.Lys964Asn)
|
|
|
NM_006206.6(PDGFRA):c.2893A>T (p.Ile965Phe)
|
|
|
NM_006206.6(PDGFRA):c.2893del (p.Ile965fs)
|
rs1553906613
|
|
NM_006206.6(PDGFRA):c.2898C>A (p.His966Gln)
|
|
|
NM_006206.6(PDGFRA):c.289_290inv (p.Leu97Lys)
|
|
|
NM_006206.6(PDGFRA):c.28G>A (p.Val10Ile)
|
rs1060501519
|
|
NM_006206.6(PDGFRA):c.2901G>A (p.Leu967=)
|
|
|
NM_006206.6(PDGFRA):c.2902G>A (p.Asp968Asn)
|
rs1724560647
|
|
NM_006206.6(PDGFRA):c.2902G>C (p.Asp968His)
|
rs1724560647
|
|
NM_006206.6(PDGFRA):c.2907C>G (p.Phe969Leu)
|
|
|
NM_006206.6(PDGFRA):c.2909T>A (p.Leu970Gln)
|
rs1553906621
|
|
NM_006206.6(PDGFRA):c.2909T>C (p.Leu970Pro)
|
rs1553906621
|
|
NM_006206.6(PDGFRA):c.2913G>T (p.Lys971Asn)
|
rs1388812728
|
|
NM_006206.6(PDGFRA):c.2918A>G (p.Asp973Gly)
|
rs1577748064
|
|
NM_006206.6(PDGFRA):c.2923C>T (p.Pro975Ser)
|
|
|
NM_006206.6(PDGFRA):c.2926G>A (p.Ala976Thr)
|
rs1007954435
|
|
NM_006206.6(PDGFRA):c.2926G>C (p.Ala976Pro)
|
rs1007954435
|
|
NM_006206.6(PDGFRA):c.2932G>A (p.Ala978Thr)
|
rs770822231
|
|
NM_006206.6(PDGFRA):c.2932G>T (p.Ala978Ser)
|
rs770822231
|
|
NM_006206.6(PDGFRA):c.2932del (p.Ala978fs)
|
|
|
NM_006206.6(PDGFRA):c.2933C>G (p.Ala978Gly)
|
rs1577748113
|
|
NM_006206.6(PDGFRA):c.2936G>T (p.Arg979Leu)
|
rs587778598
|
|
NM_006206.6(PDGFRA):c.2938A>G (p.Met980Val)
|
rs769579172
|
|
NM_006206.6(PDGFRA):c.2938A>T (p.Met980Leu)
|
|
|
NM_006206.6(PDGFRA):c.2941C>G (p.Arg981Gly)
|
rs775205485
|
|
NM_006206.6(PDGFRA):c.2942G>C (p.Arg981Pro)
|
|
|
NM_006206.6(PDGFRA):c.2942G>T (p.Arg981Leu)
|
rs368266633
|
|
NM_006206.6(PDGFRA):c.2944G>A (p.Val982Met)
|
rs1553906630
|
|
NM_006206.6(PDGFRA):c.2945T>C (p.Val982Ala)
|
rs1314369942
|
|
NM_006206.6(PDGFRA):c.2947G>T (p.Asp983Tyr)
|
rs1553906632
|
|
NM_006206.6(PDGFRA):c.2948A>G (p.Asp983Gly)
|
|
|
NM_006206.6(PDGFRA):c.2950T>C (p.Ser984Pro)
|
|
|
NM_006206.6(PDGFRA):c.2950T>G (p.Ser984Ala)
|
|
|
NM_006206.6(PDGFRA):c.2951C>T (p.Ser984Leu)
|
rs1560492942
|
|
NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn)
|
rs1060501516
|
|
NM_006206.6(PDGFRA):c.2955C>A (p.Asp985Glu)
|
|
|
NM_006206.6(PDGFRA):c.2957A>T (p.Asn986Ile)
|
rs372859148
|
|
NM_006206.6(PDGFRA):c.295A>G (p.Thr99Ala)
|
rs1265201159
|
|
NM_006206.6(PDGFRA):c.2962T>C (p.Tyr988His)
|
|
|
NM_006206.6(PDGFRA):c.2963A>G (p.Tyr988Cys)
|
rs1206479566
|
|
NM_006206.6(PDGFRA):c.2965A>C (p.Ile989Leu)
|
rs145019788
|
|
NM_006206.6(PDGFRA):c.2966T>G (p.Ile989Ser)
|
rs587778599
|
|
NM_006206.6(PDGFRA):c.2969G>A (p.Gly990Asp)
|
|
|
NM_006206.6(PDGFRA):c.2969G>C (p.Gly990Ala)
|
rs1724567367
|
|
NM_006206.6(PDGFRA):c.2969G>T (p.Gly990Val)
|
rs1724567367
|
|
NM_006206.6(PDGFRA):c.296C>G (p.Thr99Ser)
|
|
|
NM_006206.6(PDGFRA):c.2972T>C (p.Val991Ala)
|
|
|
NM_006206.6(PDGFRA):c.2974A>G (p.Thr992Ala)
|
rs1449825367
|
|
NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile)
|
|
|
NM_006206.6(PDGFRA):c.2977T>C (p.Tyr993His)
|
rs952413151
|
|
NM_006206.6(PDGFRA):c.2979C>G (p.Tyr993Ter)
|
rs2110348485
|
|
NM_006206.6(PDGFRA):c.2979del (p.Thr992_Tyr993insTer)
|
rs1724568531
|
|
NM_006206.6(PDGFRA):c.2980A>G (p.Lys994Glu)
|
rs552254049
|
|
NM_006206.6(PDGFRA):c.2980A>T (p.Lys994Ter)
|
rs552254049
|
|
NM_006206.6(PDGFRA):c.2981A>G (p.Lys994Arg)
|
rs2110348511
|
|
NM_006206.6(PDGFRA):c.2984A>G (p.Asn995Ser)
|
rs2110348515
|
|
NM_006206.6(PDGFRA):c.2987A>T (p.Glu996Val)
|
|
|
NM_006206.6(PDGFRA):c.2988_2990del (p.Glu997del)
|
rs781561737
|
|
NM_006206.6(PDGFRA):c.2992G>A (p.Asp998Asn)
|
rs1724569559
|
|
NM_006206.6(PDGFRA):c.2992G>C (p.Asp998His)
|
rs1724569559
|
|
NM_006206.6(PDGFRA):c.2995A>G (p.Lys999Glu)
|
|
|
NM_006206.6(PDGFRA):c.29T>C (p.Val10Ala)
|
rs781404006
|
|
NM_006206.6(PDGFRA):c.2T>G (p.Met1Arg)
|
rs1722515777
|
|
NM_006206.6(PDGFRA):c.3004G>A (p.Asp1002Asn)
|
rs200676118
|
|
NM_006206.6(PDGFRA):c.3008G>A (p.Trp1003Ter)
|
|
|
NM_006206.6(PDGFRA):c.3010G>A (p.Glu1004Lys)
|
rs1376909345
|
|
NM_006206.6(PDGFRA):c.3011A>T (p.Glu1004Val)
|
|
|
NM_006206.6(PDGFRA):c.3019C>A (p.Leu1007Met)
|
rs1348842755
|
|
NM_006206.6(PDGFRA):c.3019C>G (p.Leu1007Val)
|
|
|
NM_006206.6(PDGFRA):c.3019del (p.Leu1007fs)
|
rs2110348679
|
|
NM_006206.6(PDGFRA):c.301T>C (p.Tyr101His)
|
rs1722703170
|
|
NM_006206.6(PDGFRA):c.3023A>G (p.Asp1008Gly)
|
rs1724571683
|
|
NM_006206.6(PDGFRA):c.3024T>G (p.Asp1008Glu)
|
|
|
NM_006206.6(PDGFRA):c.3028C>G (p.Gln1010Glu)
|
|
|
NM_006206.6(PDGFRA):c.302A>G (p.Tyr101Cys)
|
rs779726497
|
|
NM_006206.6(PDGFRA):c.302A>T (p.Tyr101Phe)
|
rs779726497
|
|
NM_006206.6(PDGFRA):c.3030G>C (p.Gln1010His)
|
|
|
NM_006206.6(PDGFRA):c.3032G>A (p.Arg1011Lys)
|
rs1553906650
|
|
NM_006206.6(PDGFRA):c.3032_3033del (p.Arg1011fs)
|
|
|
NM_006206.6(PDGFRA):c.3037A>G (p.Ser1013Gly)
|
|
|
NM_006206.6(PDGFRA):c.3038G>A (p.Ser1013Asn)
|
rs1307047645
|
|
NM_006206.6(PDGFRA):c.3040G>C (p.Ala1014Pro)
|
rs768291477
|
|
NM_006206.6(PDGFRA):c.3040G>T (p.Ala1014Ser)
|
|
|
NM_006206.6(PDGFRA):c.3041C>T (p.Ala1014Val)
|
rs1724573125
|
|
NM_006206.6(PDGFRA):c.3041_3042delinsGG (p.Ala1014Gly)
|
rs1724573260
|
|
NM_006206.6(PDGFRA):c.3043G>A (p.Asp1015Asn)
|
rs1724573562
|
|
NM_006206.6(PDGFRA):c.3046A>G (p.Ser1016Gly)
|
rs1724573700
|
|
NM_006206.6(PDGFRA):c.3050G>C (p.Gly1017Ala)
|
|
|
NM_006206.6(PDGFRA):c.3058A>G (p.Ile1020Val)
|
rs767151323
|
|
NM_006206.6(PDGFRA):c.3062C>T (p.Pro1021Leu)
|
rs772837015
|
|
NM_006206.6(PDGFRA):c.3067C>T (p.Pro1023Ser)
|
|
|
NM_006206.6(PDGFRA):c.3068C>T (p.Pro1023Leu)
|
rs1724574803
|
|
NM_006206.6(PDGFRA):c.3070G>A (p.Asp1024Asn)
|
rs1553906665
|
|
NM_006206.6(PDGFRA):c.3071A>G (p.Asp1024Gly)
|
|
|
NM_006206.6(PDGFRA):c.3073A>G (p.Ile1025Val)
|
rs1553906669
|
|
NM_006206.6(PDGFRA):c.3076G>A (p.Asp1026Asn)
|
rs1553906671
|
|
NM_006206.6(PDGFRA):c.307A>C (p.Asn103His)
|
rs1222128776
|
|
NM_006206.6(PDGFRA):c.307A>G (p.Asn103Asp)
|
rs1222128776
|
|
NM_006206.6(PDGFRA):c.3080C>G (p.Pro1027Arg)
|
|
|
NM_006206.6(PDGFRA):c.3082G>A (p.Val1028Ile)
|
rs2110348966
|
|
NM_006206.6(PDGFRA):c.3083T>A (p.Val1028Asp)
|
rs765476521
|
|
NM_006206.6(PDGFRA):c.3085C>G (p.Pro1029Ala)
|
rs1577748646
|
|
NM_006206.6(PDGFRA):c.3085C>T (p.Pro1029Ser)
|
rs1577748646
|
|
NM_006206.6(PDGFRA):c.3086C>T (p.Pro1029Leu)
|
rs1553906681
|
|
NM_006206.6(PDGFRA):c.3090GGA[4] (p.Glu1032dup)
|
rs1553906686
|
|
NM_006206.6(PDGFRA):c.3097G>C (p.Asp1033His)
|
|
|
NM_006206.6(PDGFRA):c.3099C>G (p.Asp1033Glu)
|
rs1560493249
|
|
NM_006206.6(PDGFRA):c.309_310delinsAA (p.Asn103_His104delinsLysAsn)
|
|
|
NM_006206.6(PDGFRA):c.3100C>G (p.Leu1034Val)
|
rs1724577979
|
|
NM_006206.6(PDGFRA):c.3101T>C (p.Leu1034Pro)
|
rs1444268252
|
|
NM_006206.6(PDGFRA):c.3104G>A (p.Gly1035Asp)
|
rs777886441
|
|
NM_006206.6(PDGFRA):c.3106A>G (p.Lys1036Glu)
|
rs1560493275
|
|
NM_006206.6(PDGFRA):c.310C>G (p.His104Asp)
|
|
|
NM_006206.6(PDGFRA):c.3112A>C (p.Asn1038His)
|
rs2110349127
|
|
NM_006206.6(PDGFRA):c.3114C>G (p.Asn1038Lys)
|
rs1060501518
|
|
NM_006206.6(PDGFRA):c.3115A>G (p.Arg1039Gly)
|
rs1724579650
|
|
NM_006206.6(PDGFRA):c.3118C>T (p.His1040Tyr)
|
|
|
NM_006206.6(PDGFRA):c.311A>G (p.His104Arg)
|
rs1722704092
|
|
NM_006206.6(PDGFRA):c.3120C>G (p.His1040Gln)
|
rs961168177
|
|
NM_006206.6(PDGFRA):c.3121A>G (p.Ser1041Gly)
|
|
|
NM_006206.6(PDGFRA):c.3122+5C>T
|
rs1060501508
|
|
NM_006206.6(PDGFRA):c.3122G>A (p.Ser1041Asn)
|
rs2110349177
|
|
NM_006206.6(PDGFRA):c.3123-3C>T
|
|
|
NM_006206.6(PDGFRA):c.3123C>G (p.Ser1041Arg)
|
rs2110358391
|
|
NM_006206.6(PDGFRA):c.3128A>C (p.Gln1043Pro)
|
|
|
NM_006206.6(PDGFRA):c.3128A>G (p.Gln1043Arg)
|
rs1553907178
|
|
NM_006206.6(PDGFRA):c.3130A>G (p.Thr1044Ala)
|
rs2110358422
|
|
NM_006206.6(PDGFRA):c.3139G>C (p.Glu1047Gln)
|
rs1203681167
|
|
NM_006206.6(PDGFRA):c.313A>C (p.Thr105Pro)
|
|
|
NM_006206.6(PDGFRA):c.3141G>C (p.Glu1047Asp)
|
rs1060501513
|
|
NM_006206.6(PDGFRA):c.3143G>A (p.Ser1048Asn)
|
rs2110358477
|
|
NM_006206.6(PDGFRA):c.3148A>C (p.Ile1050Leu)
|
rs757362827
|
|
NM_006206.6(PDGFRA):c.3148A>T (p.Ile1050Phe)
|
rs757362827
|
|
NM_006206.6(PDGFRA):c.3149T>C (p.Ile1050Thr)
|
rs1724816247
|
|
NM_006206.6(PDGFRA):c.314C>T (p.Thr105Ile)
|
|
|
NM_006206.6(PDGFRA):c.3151G>A (p.Glu1051Lys)
|
|
|
NM_006206.6(PDGFRA):c.3154A>T (p.Thr1052Ser)
|
rs1215904714
|
|
NM_006206.6(PDGFRA):c.3157G>A (p.Gly1053Ser)
|
rs1215673916
|
|
NM_006206.6(PDGFRA):c.3161C>G (p.Ser1054Cys)
|
rs778837386
|
|
NM_006206.6(PDGFRA):c.3164G>A (p.Ser1055Asn)
|
rs1577755565
|
|
NM_006206.6(PDGFRA):c.3165C>A (p.Ser1055Arg)
|
|
|
NM_006206.6(PDGFRA):c.3165C>G (p.Ser1055Arg)
|
|
|
NM_006206.6(PDGFRA):c.3167G>A (p.Ser1056Asn)
|
rs1577755578
|
|
NM_006206.6(PDGFRA):c.3169T>A (p.Ser1057Thr)
|
rs1560495997
|
|
NM_006206.6(PDGFRA):c.316C>A (p.Gln106Lys)
|
|
|
NM_006206.6(PDGFRA):c.3172A>G (p.Thr1058Ala)
|
|
|
NM_006206.6(PDGFRA):c.3173C>G (p.Thr1058Ser)
|
|
|
NM_006206.6(PDGFRA):c.3173C>T (p.Thr1058Ile)
|
rs747864564
|
|
NM_006206.6(PDGFRA):c.3177C>A (p.Phe1059Leu)
|
rs995196679
|
|
NM_006206.6(PDGFRA):c.3181A>G (p.Lys1061Glu)
|
rs2110358686
|
|
NM_006206.6(PDGFRA):c.3181_3182del (p.Lys1061fs)
|
|
|
NM_006206.6(PDGFRA):c.3182A>G (p.Lys1061Arg)
|
rs1577755645
|
|
NM_006206.6(PDGFRA):c.3182dup (p.Arg1062fs)
|
rs2110358692
|
|
NM_006206.6(PDGFRA):c.3185G>T (p.Arg1062Ile)
|
rs2110358706
|
|
NM_006206.6(PDGFRA):c.3187_3196del (p.Glu1063fs)
|
|
|
NM_006206.6(PDGFRA):c.3188A>G (p.Glu1063Gly)
|
rs1724821641
|
|
NM_006206.6(PDGFRA):c.3188_3189del (p.Glu1063fs)
|
rs2110358699
|
|
NM_006206.6(PDGFRA):c.318G>C (p.Gln106His)
|
|
|
NM_006206.6(PDGFRA):c.3190G>A (p.Asp1064Asn)
|
|
|
NM_006206.6(PDGFRA):c.3191A>T (p.Asp1064Val)
|
rs375050626
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
NM_006206.6(PDGFRA):c.3196A>G (p.Thr1066Ala)
|
|
|
NM_006206.6(PDGFRA):c.3196A>T (p.Thr1066Ser)
|
|
|
NM_006206.6(PDGFRA):c.3197C>G (p.Thr1066Ser)
|
rs775944809
|
|
NM_006206.6(PDGFRA):c.3197C>T (p.Thr1066Ile)
|
rs775944809
|
|
NM_006206.6(PDGFRA):c.3199A>G (p.Ile1067Val)
|
|
|
NM_006206.6(PDGFRA):c.319A>T (p.Thr107Ser)
|
rs1722704869
|
|
NM_006206.6(PDGFRA):c.3206A>T (p.Asp1069Val)
|
rs372098007
|
|
NM_006206.6(PDGFRA):c.3207C>G (p.Asp1069Glu)
|
|
|
NM_006206.6(PDGFRA):c.3208A>G (p.Ile1070Val)
|
|
|
NM_006206.6(PDGFRA):c.3209T>A (p.Ile1070Asn)
|
|
|
NM_006206.6(PDGFRA):c.3209T>C (p.Ile1070Thr)
|
|
|
NM_006206.6(PDGFRA):c.320C>T (p.Thr107Ile)
|
rs1722705047
|
|
NM_006206.6(PDGFRA):c.3210C>G (p.Ile1070Met)
|
rs149498489
|
|
NM_006206.6(PDGFRA):c.3214A>G (p.Met1072Val)
|
rs1724824777
|
|
NM_006206.6(PDGFRA):c.3214A>T (p.Met1072Leu)
|
rs1724824777
|
|
NM_006206.6(PDGFRA):c.3215T>A (p.Met1072Lys)
|
rs1560496089
|
|
NM_006206.6(PDGFRA):c.3215T>C (p.Met1072Thr)
|
rs1560496089
|
|
NM_006206.6(PDGFRA):c.3216G>T (p.Met1072Ile)
|
rs1410475168
|
|
NM_006206.6(PDGFRA):c.3221_3222delinsCC (p.Asp1074Ala)
|
rs1724825892
|
|
NM_006206.6(PDGFRA):c.3221_3222delinsGC (p.Asp1074Gly)
|
rs1724825892
|
|
NM_006206.6(PDGFRA):c.3222_3223delinsCC (p.Asp1075His)
|
rs2110358916
|
|
NM_006206.6(PDGFRA):c.3222_3223inv (p.Asp1075Asn)
|
|
|
NM_006206.6(PDGFRA):c.3226A>G (p.Ile1076Val)
|
rs750465940
|
|
NM_006206.6(PDGFRA):c.3228_3229delinsTA (p.Gly1077Ser)
|
|
|
NM_006206.6(PDGFRA):c.3229G>A (p.Gly1077Ser)
|
rs752633017
|
|
NM_006206.6(PDGFRA):c.3229_3242del (p.Gly1077fs)
|
rs2110358945
|
|
NM_006206.6(PDGFRA):c.3232A>G (p.Ile1078Val)
|
rs1577755845
|
|
NM_006206.6(PDGFRA):c.3236A>T (p.Asp1079Val)
|
rs1560496172
|
|
NM_006206.6(PDGFRA):c.3237C>A (p.Asp1079Glu)
|
rs758298020
|
|
NM_006206.6(PDGFRA):c.3242C>G (p.Ser1081Ter)
|
|
|
NM_006206.6(PDGFRA):c.3246C>A (p.Asp1082Glu)
|
rs756955630
|
|
NM_006206.6(PDGFRA):c.3250G>A (p.Val1084Met)
|
rs2110359061
|
|
NM_006206.6(PDGFRA):c.3250del (p.Val1084fs)
|
rs778315483
|
|
NM_006206.6(PDGFRA):c.3251T>A (p.Val1084Glu)
|
|
|
NM_006206.6(PDGFRA):c.3253G>A (p.Glu1085Lys)
|
rs2110359078
|
|
NM_006206.6(PDGFRA):c.3256G>T (p.Asp1086Tyr)
|
rs2110359089
|
|
NM_006206.6(PDGFRA):c.3258C>G (p.Asp1086Glu)
|
rs1205738556
|
|
NM_006206.6(PDGFRA):c.3259A>G (p.Ser1087Gly)
|
rs2110359113
|
|
NM_006206.6(PDGFRA):c.325G>A (p.Glu109Lys)
|
rs1577705794
|
|
NM_006206.6(PDGFRA):c.3266T>G (p.Leu1089Arg)
|
rs2110359131
|
|
NM_006206.6(PDGFRA):c.327G>C (p.Glu109Asp)
|
rs1577705804
|
|
NM_006206.6(PDGFRA):c.334C>T (p.Leu112Phe)
|
rs1722706795
|
|
NM_006206.6(PDGFRA):c.335T>G (p.Leu112Arg)
|
|
|
NM_006206.6(PDGFRA):c.337G>A (p.Glu113Lys)
|
rs1722706959
|
|
NM_006206.6(PDGFRA):c.341G>C (p.Gly114Ala)
|
rs1560467103
|
|
NM_006206.6(PDGFRA):c.342C>T (p.Gly114=)
|
rs1553902455
|
|
NM_006206.6(PDGFRA):c.346C>T (p.His116Tyr)
|
rs1722707811
|
|
NM_006206.6(PDGFRA):c.347A>G (p.His116Arg)
|
|
|
NM_006206.6(PDGFRA):c.348C>A (p.His116Gln)
|
rs1182699578
|
|
NM_006206.6(PDGFRA):c.349A>G (p.Ile117Val)
|
rs1577705861
|
|
NM_006206.6(PDGFRA):c.34G>A (p.Gly12Ser)
|
|
|
NM_006206.6(PDGFRA):c.355A>C (p.Ile119Leu)
|
rs1722708765
|
|
NM_006206.6(PDGFRA):c.355A>G (p.Ile119Val)
|
|
|
NM_006206.6(PDGFRA):c.357C>G (p.Ile119Met)
|
rs1577705874
|
|
NM_006206.6(PDGFRA):c.35G>C (p.Gly12Ala)
|
rs1440200916
|
|
NM_006206.6(PDGFRA):c.35G>T (p.Gly12Val)
|
|
|
NM_006206.6(PDGFRA):c.362T>C (p.Val121Ala)
|
rs2110243774
|
|
NM_006206.6(PDGFRA):c.366A>G (p.Pro122=)
|
rs2110243783
|
|
NM_006206.6(PDGFRA):c.366A>T (p.Pro122=)
|
|
|
NM_006206.6(PDGFRA):c.367+3G>A
|
rs747555686
|
|
NM_006206.6(PDGFRA):c.367+3G>C
|
rs747555686
|
|
NM_006206.6(PDGFRA):c.367+4dup
|
rs1553902459
|
|
NM_006206.6(PDGFRA):c.368-7dup
|
rs2110250288
|
|
NM_006206.6(PDGFRA):c.370C>T (p.Pro124Ser)
|
|
|
NM_006206.6(PDGFRA):c.371C>T (p.Pro124Leu)
|
rs918962982
|
|
NM_006206.6(PDGFRA):c.373G>C (p.Asp125His)
|
|
|
NM_006206.6(PDGFRA):c.373G>T (p.Asp125Tyr)
|
rs762935664
|
|
NM_006206.6(PDGFRA):c.375T>A (p.Asp125Glu)
|
|
|
NM_006206.6(PDGFRA):c.380C>G (p.Ala127Gly)
|
rs759705682
|
|
NM_006206.6(PDGFRA):c.385G>A (p.Val129Ile)
|
|
|
NM_006206.6(PDGFRA):c.388C>T (p.Pro130Ser)
|
rs2110250649
|
|
NM_006206.6(PDGFRA):c.391C>G (p.Leu131Val)
|
|
|
NM_006206.6(PDGFRA):c.392T>C (p.Leu131Pro)
|
rs2110250721
|
|
NM_006206.6(PDGFRA):c.398_400del (p.Met133del)
|
|
|
NM_006206.6(PDGFRA):c.399G>A (p.Met133Ile)
|
|
|
NM_006206.6(PDGFRA):c.405T>A (p.Asp135Glu)
|
rs766197882
|
|
NM_006206.6(PDGFRA):c.405T>G (p.Asp135Glu)
|
rs766197882
|
|
NM_006206.6(PDGFRA):c.406T>C (p.Tyr136His)
|
rs2110250920
|
|
NM_006206.6(PDGFRA):c.407A>T (p.Tyr136Phe)
|
rs1326143004
|
|
NM_006206.6(PDGFRA):c.40C>A (p.Leu14Ile)
|
rs1722520036
|
|
NM_006206.6(PDGFRA):c.40C>T (p.Leu14Phe)
|
rs1722520036
|
|
NM_006206.6(PDGFRA):c.410T>C (p.Leu137Ser)
|
|
|
NM_006206.6(PDGFRA):c.412G>C (p.Val138Leu)
|
rs1577709150
|
|
NM_006206.6(PDGFRA):c.415A>G (p.Ile139Val)
|
rs1577709157
|
|
NM_006206.6(PDGFRA):c.416T>C (p.Ile139Thr)
|
|
|
NM_006206.6(PDGFRA):c.417C>G (p.Ile139Met)
|
rs752320486
|
|
NM_006206.6(PDGFRA):c.418G>A (p.Val140Met)
|
rs574683248
|
|
NM_006206.6(PDGFRA):c.424G>A (p.Asp142Asn)
|
rs1722875527
|
|
NM_006206.6(PDGFRA):c.424G>C (p.Asp142His)
|
|
|
NM_006206.6(PDGFRA):c.425A>G (p.Asp142Gly)
|
rs1337241636
|
|
NM_006206.6(PDGFRA):c.425A>T (p.Asp142Val)
|
rs1337241636
|
|
NM_006206.6(PDGFRA):c.426T>G (p.Asp142Glu)
|
|
|
NM_006206.6(PDGFRA):c.428A>T (p.Asp143Val)
|
rs2110251193
|
|
NM_006206.6(PDGFRA):c.429T>G (p.Asp143Glu)
|
rs1553902692
|
|
NM_006206.6(PDGFRA):c.433T>A (p.Ser145Thr)
|
rs1560468932
|
|
NM_006206.6(PDGFRA):c.437C>A (p.Ala146Asp)
|
rs1249349361
|
|
NM_006206.6(PDGFRA):c.437C>T (p.Ala146Val)
|
rs1249349361
|
|
NM_006206.6(PDGFRA):c.438del (p.Ile147fs)
|
|
|
NM_006206.6(PDGFRA):c.439A>G (p.Ile147Val)
|
rs553864636
|
|
NM_006206.6(PDGFRA):c.43C>T (p.Leu15Phe)
|
rs1577701660
|
|
NM_006206.6(PDGFRA):c.442A>G (p.Ile148Val)
|
rs2110251418
|
|
NM_006206.6(PDGFRA):c.443T>C (p.Ile148Thr)
|
|
|
NM_006206.6(PDGFRA):c.446C>G (p.Pro149Arg)
|
rs2110251469
|
|
NM_006206.6(PDGFRA):c.44T>C (p.Leu15Pro)
|
rs1286350038
|
|
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)
|
rs1449637193
|
|
NM_006206.6(PDGFRA):c.452G>A (p.Arg151His)
|
rs1060501501
|
|
NM_006206.6(PDGFRA):c.452G>C (p.Arg151Pro)
|
rs1060501501
|
|
NM_006206.6(PDGFRA):c.452G>T (p.Arg151Leu)
|
rs1060501501
|
|
NM_006206.6(PDGFRA):c.454A>G (p.Thr152Ala)
|
rs775558761
|
|
NM_006206.6(PDGFRA):c.458C>G (p.Thr153Ser)
|
rs1577709338
|
|
NM_006206.6(PDGFRA):c.464C>G (p.Pro155Arg)
|
rs1577709360
|
|
NM_006206.6(PDGFRA):c.465C>A (p.Pro155=)
|
rs376832294
|
|
NM_006206.6(PDGFRA):c.468G>C (p.Glu156Asp)
|
rs150801572
|
|
NM_006206.6(PDGFRA):c.469A>T (p.Thr157Ser)
|
rs2110251816
|
|
NM_006206.6(PDGFRA):c.470C>T (p.Thr157Ile)
|
rs1553902717
|
|
NM_006206.6(PDGFRA):c.472C>G (p.Pro158Ala)
|
|
|
NM_006206.6(PDGFRA):c.475G>A (p.Val159Ile)
|
|
|
NM_006206.6(PDGFRA):c.478A>G (p.Thr160Ala)
|
|
|
NM_006206.6(PDGFRA):c.479C>A (p.Thr160Asn)
|
rs1577709414
|
|
NM_006206.6(PDGFRA):c.47C>T (p.Thr16Ile)
|
rs1722521033
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
NM_006206.6(PDGFRA):c.485A>G (p.His162Arg)
|
rs916537173
|
|
NM_006206.6(PDGFRA):c.486C>A (p.His162Gln)
|
|
|
NM_006206.6(PDGFRA):c.488A>C (p.Asn163Thr)
|
|
|
NM_006206.6(PDGFRA):c.488A>G (p.Asn163Ser)
|
rs1360565030
|
|
NM_006206.6(PDGFRA):c.489C>G (p.Asn163Lys)
|
rs576890188
|
|
NM_006206.6(PDGFRA):c.48A>G (p.Thr16=)
|
rs1722521191
|
|
NM_006206.6(PDGFRA):c.49+1G>T
|
|
|
NM_006206.6(PDGFRA):c.490A>G (p.Ser164Gly)
|
rs768090499
|
|
NM_006206.6(PDGFRA):c.491G>C (p.Ser164Thr)
|
|
|
NM_006206.6(PDGFRA):c.491G>T (p.Ser164Ile)
|
rs1577709452
|
|
NM_006206.6(PDGFRA):c.492T>G (p.Ser164Arg)
|
rs776491556
|
|
NM_006206.6(PDGFRA):c.493G>A (p.Glu165Lys)
|
|
|
NM_006206.6(PDGFRA):c.495G>C (p.Glu165Asp)
|
rs1722883512
|
|
NM_006206.6(PDGFRA):c.496G>A (p.Gly166Arg)
|
|
|
NM_006206.6(PDGFRA):c.496G>T (p.Gly166Trp)
|
rs2110252173
|
|
NM_006206.6(PDGFRA):c.497G>A (p.Gly166Glu)
|
rs1295802121
|
|
NM_006206.6(PDGFRA):c.497G>T (p.Gly166Val)
|
rs1295802121
|
|
NM_006206.6(PDGFRA):c.499G>T (p.Val167Leu)
|
|
|
NM_006206.6(PDGFRA):c.4G>A (p.Gly2Arg)
|
rs1722515922
|
|
NM_006206.6(PDGFRA):c.50-3C>T
|
|
|
NM_006206.6(PDGFRA):c.502G>A (p.Val168Ile)
|
rs752270672
|
|
NM_006206.6(PDGFRA):c.502G>C (p.Val168Leu)
|
rs752270672
|
|
NM_006206.6(PDGFRA):c.50G>A (p.Gly17Glu)
|
rs766600687
|
|
NM_006206.6(PDGFRA):c.512C>G (p.Ser171Cys)
|
|
|
NM_006206.6(PDGFRA):c.517G>C (p.Asp173His)
|
rs763718380
|
|
NM_006206.6(PDGFRA):c.521G>A (p.Ser174Asn)
|
rs1207595829
|
|
NM_006206.6(PDGFRA):c.526C>G (p.Gln176Glu)
|
rs2110252615
|
|
NM_006206.6(PDGFRA):c.527_528del (p.Gln176fs)
|
rs2110252645
|
|
NM_006206.6(PDGFRA):c.538G>T (p.Gly180Trp)
|
rs2110252767
|
|
NM_006206.6(PDGFRA):c.541A>T (p.Thr181Ser)
|
rs1722888310
|
|
NM_006206.6(PDGFRA):c.542C>A (p.Thr181Asn)
|
rs746299618
|
|
NM_006206.6(PDGFRA):c.542C>T (p.Thr181Ile)
|
rs746299618
|
|
NM_006206.6(PDGFRA):c.546C>G (p.Phe182Leu)
|
rs1722888931
|
|
NM_006206.6(PDGFRA):c.550G>A (p.Val184Ile)
|
rs1560469226
|
|
NM_006206.6(PDGFRA):c.550G>T (p.Val184Leu)
|
rs1560469226
|
|
NM_006206.6(PDGFRA):c.551T>G (p.Val184Gly)
|
rs367711512
|
|
NM_006206.6(PDGFRA):c.556C>G (p.Pro186Ala)
|
|
|
NM_006206.6(PDGFRA):c.560A>G (p.Tyr187Cys)
|
rs1577709665
|
|
NM_006206.6(PDGFRA):c.560A>T (p.Tyr187Phe)
|
rs1577709665
|
|
NM_006206.6(PDGFRA):c.568G>A (p.Glu190Lys)
|
rs1036522662
|
|
NM_006206.6(PDGFRA):c.571G>A (p.Ala191Thr)
|
rs267600185
|
|
NM_006206.6(PDGFRA):c.571G>T (p.Ala191Ser)
|
rs267600185
|
|
NM_006206.6(PDGFRA):c.572C>G (p.Ala191Gly)
|
rs1342445882
|
|
NM_006206.6(PDGFRA):c.575C>G (p.Thr192Ser)
|
rs1273444748
|
|
NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile)
|
rs774431464
|
|
NM_006206.6(PDGFRA):c.586A>G (p.Lys196Glu)
|
rs2110253532
|
|
NM_006206.6(PDGFRA):c.58C>G (p.Leu20Val)
|
rs1553902342
|
|
NM_006206.6(PDGFRA):c.594C>A (p.Phe198Leu)
|
|
|
NM_006206.6(PDGFRA):c.594C>G (p.Phe198Leu)
|
rs1018795199
|
|
NM_006206.6(PDGFRA):c.5G>A (p.Gly2Glu)
|
rs2110235021
|
|
NM_006206.6(PDGFRA):c.601A>G (p.Ile201Val)
|
|
|
NM_006206.6(PDGFRA):c.605C>T (p.Pro202Leu)
|
rs2110253833
|
|
NM_006206.6(PDGFRA):c.607T>C (p.Phe203Leu)
|
|
|
NM_006206.6(PDGFRA):c.610A>G (p.Asn204Asp)
|
rs1553902754
|
|
NM_006206.6(PDGFRA):c.612_613inv (p.Val205Ile)
|
|
|
NM_006206.6(PDGFRA):c.617A>G (p.Tyr206Cys)
|
|
|
NM_006206.6(PDGFRA):c.620C>T (p.Ala207Val)
|
rs2110253999
|
|
NM_006206.6(PDGFRA):c.624A>C (p.Leu208Phe)
|
|
|
NM_006206.6(PDGFRA):c.628+1G>A
|
rs1560469424
|
|
NM_006206.6(PDGFRA):c.628+3A>G
|
rs1553902759
|
|
NM_006206.6(PDGFRA):c.628+4C>G
|
|
|
NM_006206.6(PDGFRA):c.629-1G>A
|
|
|
NM_006206.6(PDGFRA):c.629-3T>C
|
rs1722947774
|
|
NM_006206.6(PDGFRA):c.629C>A (p.Ala210Glu)
|
rs761446758
|
|
NM_006206.6(PDGFRA):c.629C>T (p.Ala210Val)
|
rs761446758
|
|
NM_006206.6(PDGFRA):c.631A>C (p.Thr211Pro)
|
rs1170188252
|
|
NM_006206.6(PDGFRA):c.632C>T (p.Thr211Ile)
|
rs1560470251
|
|
NM_006206.6(PDGFRA):c.633A>G (p.Thr211=)
|
rs1370965730
|
|
NM_006206.6(PDGFRA):c.634T>C (p.Ser212Pro)
|
rs1722948802
|
|
NM_006206.6(PDGFRA):c.638A>G (p.Glu213Gly)
|
rs1461389031
|
|
NM_006206.6(PDGFRA):c.639G>T (p.Glu213Asp)
|
|
|
NM_006206.6(PDGFRA):c.643G>C (p.Asp215His)
|
|
|
NM_006206.6(PDGFRA):c.646C>A (p.Leu216Ile)
|
rs766847405
|
|
NM_006206.6(PDGFRA):c.646C>T (p.Leu216=)
|
|
|
NM_006206.6(PDGFRA):c.64C>G (p.Leu22Val)
|
|
|
NM_006206.6(PDGFRA):c.64C>T (p.Leu22Phe)
|
rs975510328
|
|
NM_006206.6(PDGFRA):c.653T>C (p.Met218Thr)
|
rs1577711303
|
|
NM_006206.6(PDGFRA):c.654G>T (p.Met218Ile)
|
|
|
NM_006206.6(PDGFRA):c.655G>C (p.Glu219Gln)
|
rs1230177198
|
|
NM_006206.6(PDGFRA):c.657A>C (p.Glu219Asp)
|
|
|
NM_006206.6(PDGFRA):c.658G>A (p.Ala220Thr)
|
rs1577711317
|
|
NM_006206.6(PDGFRA):c.670G>A (p.Val224Met)
|
rs1248275606
|
|
NM_006206.6(PDGFRA):c.670G>C (p.Val224Leu)
|
rs1248275606
|
|
NM_006206.6(PDGFRA):c.670G>T (p.Val224Leu)
|
rs1248275606
|
|
NM_006206.6(PDGFRA):c.673T>C (p.Tyr225His)
|
rs1722953460
|
|
NM_006206.6(PDGFRA):c.674A>G (p.Tyr225Cys)
|
rs878854831
|
|
NM_006206.6(PDGFRA):c.676A>G (p.Lys226Glu)
|
|
|
NM_006206.6(PDGFRA):c.682G>A (p.Gly228Arg)
|
rs1722954202
|
|
NM_006206.6(PDGFRA):c.682G>C (p.Gly228Arg)
|
|
|
NM_006206.6(PDGFRA):c.685G>C (p.Glu229Gln)
|
rs1250098734
|
|
NM_006206.6(PDGFRA):c.686A>G (p.Glu229Gly)
|
rs1722954555
|
|
NM_006206.6(PDGFRA):c.694G>T (p.Val232Leu)
|
|
|
NM_006206.6(PDGFRA):c.695T>C (p.Val232Ala)
|
rs2110258098
|
|
NM_006206.6(PDGFRA):c.701C>T (p.Thr234Ile)
|
rs1553902931
|
|
NM_006206.6(PDGFRA):c.704G>C (p.Cys235Ser)
|
rs2110258199
|
|
NM_006206.6(PDGFRA):c.717C>G (p.Asn239Lys)
|
rs769686275
|
|
NM_006206.6(PDGFRA):c.718A>C (p.Asn240His)
|
rs1553902944
|
|
NM_006206.6(PDGFRA):c.719A>C (p.Asn240Thr)
|
|
|
NM_006206.6(PDGFRA):c.719A>G (p.Asn240Ser)
|
rs749141162
|
|
NM_006206.6(PDGFRA):c.720T>G (p.Asn240Lys)
|
|
|
NM_006206.6(PDGFRA):c.721G>A (p.Glu241Lys)
|
rs878854832
|
|
NM_006206.6(PDGFRA):c.722A>G (p.Glu241Gly)
|
rs2110258402
|
|
NM_006206.6(PDGFRA):c.724G>A (p.Val242Met)
|
rs1324568225
|
|
NM_006206.6(PDGFRA):c.724G>T (p.Val242Leu)
|
rs1324568225
|
|
NM_006206.6(PDGFRA):c.728T>C (p.Val243Ala)
|
rs2110258478
|
|
NM_006206.6(PDGFRA):c.730G>A (p.Asp244Asn)
|
rs1722958396
|
|
NM_006206.6(PDGFRA):c.733C>A (p.Leu245Ile)
|
rs1722958726
|
|
NM_006206.6(PDGFRA):c.736C>T (p.Gln246Ter)
|
|
|
NM_006206.6(PDGFRA):c.747C>G (p.Tyr249Ter)
|
|
|
NM_006206.6(PDGFRA):c.750T>A (p.Pro250=)
|
rs1577711534
|
|
NM_006206.6(PDGFRA):c.752G>A (p.Gly251Glu)
|
rs771701353
|
|
NM_006206.6(PDGFRA):c.752G>C (p.Gly251Ala)
|
rs771701353
|
|
NM_006206.6(PDGFRA):c.755A>T (p.Glu252Val)
|
rs1553902958
|
|
NM_006206.6(PDGFRA):c.756A>G (p.Glu252=)
|
|
|
NM_006206.6(PDGFRA):c.759+4G>C
|
|
|
NM_006206.6(PDGFRA):c.759G>T (p.Val253=)
|
rs2110258769
|
|
NM_006206.6(PDGFRA):c.760A>G (p.Lys254Glu)
|
rs2110264353
|
|
NM_006206.6(PDGFRA):c.763G>A (p.Gly255Ser)
|
rs1553903204
|
|
NM_006206.6(PDGFRA):c.764G>C (p.Gly255Ala)
|
|
|
NM_006206.6(PDGFRA):c.766A>G (p.Lys256Glu)
|
rs2110264392
|
|
NM_006206.6(PDGFRA):c.767A>G (p.Lys256Arg)
|
rs1723079299
|
|
NM_006206.6(PDGFRA):c.768dup (p.Gly257fs)
|
rs1723079151
|
|
NM_006206.6(PDGFRA):c.769G>A (p.Gly257Ser)
|
rs1577714414
|
|
NM_006206.6(PDGFRA):c.770G>A (p.Gly257Asp)
|
rs1577714420
|
|
NM_006206.6(PDGFRA):c.770G>T (p.Gly257Val)
|
rs1577714420
|
|
NM_006206.6(PDGFRA):c.772A>T (p.Ile258Phe)
|
|
|
NM_006206.6(PDGFRA):c.774C>G (p.Ile258Met)
|
rs1723080437
|
|
NM_006206.6(PDGFRA):c.775A>G (p.Thr259Ala)
|
rs1060501503
|
|
NM_006206.6(PDGFRA):c.779T>A (p.Met260Lys)
|
rs1412240615
|
|
NM_006206.6(PDGFRA):c.779T>G (p.Met260Arg)
|
rs1412240615
|
|
NM_006206.6(PDGFRA):c.780G>T (p.Met260Ile)
|
rs2110264552
|
|
NM_006206.6(PDGFRA):c.784G>A (p.Glu262Lys)
|
rs376265745
|
|
NM_006206.6(PDGFRA):c.790A>C (p.Ile264Leu)
|
|
|
NM_006206.6(PDGFRA):c.794A>C (p.Lys265Thr)
|
|
|
NM_006206.6(PDGFRA):c.794A>G (p.Lys265Arg)
|
rs1723082425
|
|
NM_006206.6(PDGFRA):c.796G>A (p.Val266Ile)
|
rs1723082812
|
|
NM_006206.6(PDGFRA):c.79_81dup (p.Leu27dup)
|
rs1560466532
|
|
NM_006206.6(PDGFRA):c.800C>T (p.Pro267Leu)
|
|
|
NM_006206.6(PDGFRA):c.805A>G (p.Ile269Val)
|
|
|
NM_006206.6(PDGFRA):c.808A>C (p.Lys270Gln)
|
rs1263572484
|
|
NM_006206.6(PDGFRA):c.808A>G (p.Lys270Glu)
|
|
|
NM_006206.6(PDGFRA):c.809A>G (p.Lys270Arg)
|
rs545359247
|
|
NM_006206.6(PDGFRA):c.813G>A (p.Leu271=)
|
rs2110264787
|
|
NM_006206.6(PDGFRA):c.814G>A (p.Val272Met)
|
|
|
NM_006206.6(PDGFRA):c.818A>G (p.Tyr273Cys)
|
rs1723085868
|
|
NM_006206.6(PDGFRA):c.81A>C (p.Leu27Phe)
|
|
|
NM_006206.6(PDGFRA):c.81dup (p.Pro28fs)
|
rs1722678008
|
|
NM_006206.6(PDGFRA):c.826A>G (p.Thr276Ala)
|
|
|
NM_006206.6(PDGFRA):c.827C>A (p.Thr276Lys)
|
|
|
NM_006206.6(PDGFRA):c.82C>T (p.Pro28Ser)
|
|
|
NM_006206.6(PDGFRA):c.831_832delinsTT (p.Pro278Ser)
|
|
|
NM_006206.6(PDGFRA):c.838G>A (p.Ala280Thr)
|
|
|
NM_006206.6(PDGFRA):c.841A>G (p.Thr281Ala)
|
rs2110265018
|
|
NM_006206.6(PDGFRA):c.842C>A (p.Thr281Lys)
|
rs770343276
|
|
NM_006206.6(PDGFRA):c.850G>A (p.Asp284Asn)
|
|
|
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly)
|
rs541057765
|
|
NM_006206.6(PDGFRA):c.854G>A (p.Ser285Asn)
|
|
|
NM_006206.6(PDGFRA):c.859G>A (p.Asp287Asn)
|
rs1553903251
|
|
NM_006206.6(PDGFRA):c.85T>G (p.Ser29Ala)
|
|
|
NM_006206.6(PDGFRA):c.860A>G (p.Asp287Gly)
|
rs1305108075
|
|
NM_006206.6(PDGFRA):c.863A>G (p.Tyr288Cys)
|
|
|
NM_006206.6(PDGFRA):c.871G>A (p.Ala291Thr)
|
rs1723090772
|
|
NM_006206.6(PDGFRA):c.872C>G (p.Ala291Gly)
|
rs774527841
|
|
NM_006206.6(PDGFRA):c.872C>T (p.Ala291Val)
|
|
|
NM_006206.6(PDGFRA):c.875C>G (p.Ala292Gly)
|
rs2110265236
|
|
NM_006206.6(PDGFRA):c.875C>T (p.Ala292Val)
|
|
|
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)
|
rs373948582
|
|
NM_006206.6(PDGFRA):c.878G>T (p.Arg293Leu)
|
|
|
NM_006206.6(PDGFRA):c.883G>T (p.Ala295Ser)
|
rs1723092007
|
|
NM_006206.6(PDGFRA):c.891G>C (p.Arg297Ser)
|
|
|
NM_006206.6(PDGFRA):c.892G>A (p.Glu298Lys)
|
rs1723093215
|
|
NM_006206.6(PDGFRA):c.894G>C (p.Glu298Asp)
|
rs1253098644
|
|
NM_006206.6(PDGFRA):c.894G>T (p.Glu298Asp)
|
|
|
NM_006206.6(PDGFRA):c.895G>A (p.Val299Ile)
|
rs752649434
|
|
NM_006206.6(PDGFRA):c.898A>G (p.Lys300Glu)
|
rs996658686
|
|
NM_006206.6(PDGFRA):c.89T>C (p.Ile30Thr)
|
rs1437048036
|
|
NM_006206.6(PDGFRA):c.8C>G (p.Thr3Ser)
|
|
|
NM_006206.6(PDGFRA):c.901G>A (p.Glu301Lys)
|
rs1553903287
|
|
NM_006206.6(PDGFRA):c.904A>G (p.Met302Val)
|
rs1060501512
|
|
NM_006206.6(PDGFRA):c.904A>T (p.Met302Leu)
|
rs1060501512
|
|
NM_006206.6(PDGFRA):c.906G>C (p.Met302Ile)
|
|
|
NM_006206.6(PDGFRA):c.910A>T (p.Lys304Ter)
|
rs2110265527
|
|
NM_006206.6(PDGFRA):c.911A>C (p.Lys304Thr)
|
|
|
NM_006206.6(PDGFRA):c.911A>G (p.Lys304Arg)
|
rs1723095511
|
|
NM_006206.6(PDGFRA):c.913G>A (p.Val305Ile)
|
rs1396396699
|
|
NM_006206.6(PDGFRA):c.917C>T (p.Thr306Ile)
|
rs139685174
|
|
NM_006206.6(PDGFRA):c.919A>G (p.Ile307Val)
|
rs371882159
|
|
NM_006206.6(PDGFRA):c.921T>G (p.Ile307Met)
|
rs1553903298
|
|
NM_006206.6(PDGFRA):c.928C>T (p.His310Tyr)
|
rs1723096921
|
|
NM_006206.6(PDGFRA):c.92T>C (p.Leu31Pro)
|
rs2110241819
|
|
NM_006206.6(PDGFRA):c.931+20A>G
|
rs2110265765
|
|
NM_006206.6(PDGFRA):c.931+2T>A
|
|
|
NM_006206.6(PDGFRA):c.931+4C>T
|
rs1259174139
|
|
NM_006206.6(PDGFRA):c.931+5A>C
|
rs745430555
|
|
NM_006206.6(PDGFRA):c.931+5A>G
|
rs745430555
|
|
NM_006206.6(PDGFRA):c.932-10C>G
|
|
|
NM_006206.6(PDGFRA):c.932-3C>T
|
|
|
NM_006206.6(PDGFRA):c.932A>C (p.Glu311Ala)
|
rs1723106857
|
|
NM_006206.6(PDGFRA):c.932A>T (p.Glu311Val)
|
rs1723106857
|
|
NM_006206.6(PDGFRA):c.933G>C (p.Glu311Asp)
|
rs780863118
|
|
NM_006206.6(PDGFRA):c.935A>C (p.Lys312Thr)
|
rs2110266263
|
|
NM_006206.6(PDGFRA):c.937G>T (p.Gly313Cys)
|
|
|
NM_006206.6(PDGFRA):c.938G>A (p.Gly313Asp)
|
rs1293806775
|
|
NM_006206.6(PDGFRA):c.938G>C (p.Gly313Ala)
|
|
|
NM_006206.6(PDGFRA):c.939_940delinsGA (p.Phe314Ile)
|
|
|
NM_006206.6(PDGFRA):c.943A>G (p.Ile315Val)
|
rs2110266368
|
|
NM_006206.6(PDGFRA):c.944T>C (p.Ile315Thr)
|
rs1723108178
|
|
NM_006206.6(PDGFRA):c.945T>G (p.Ile315Met)
|
rs149222227
|
|
NM_006206.6(PDGFRA):c.94C>A (p.Pro32Thr)
|
rs936241714
|
|
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=)
|
rs886059444
|
|
NM_006206.6(PDGFRA):c.954A>T (p.Lys318Asn)
|
|
|
NM_006206.6(PDGFRA):c.955C>T (p.Pro319Ser)
|
|
|
NM_006206.6(PDGFRA):c.959C>A (p.Thr320Asn)
|
|
|
NM_006206.6(PDGFRA):c.959C>T (p.Thr320Ile)
|
rs779626645
|
|
NM_006206.6(PDGFRA):c.968A>C (p.Gln323Pro)
|
rs2110266557
|
|
NM_006206.6(PDGFRA):c.969G>T (p.Gln323His)
|
rs769276081
|
|
NM_006206.6(PDGFRA):c.970T>G (p.Leu324Val)
|
rs1723110426
|
|
NM_006206.6(PDGFRA):c.976G>A (p.Ala326Thr)
|
rs1723110630
|
|
NM_006206.6(PDGFRA):c.979G>A (p.Val327Ile)
|
rs748576202
|
|
NM_006206.6(PDGFRA):c.979G>C (p.Val327Leu)
|
rs748576202
|
|
NM_006206.6(PDGFRA):c.983A>G (p.Asn328Ser)
|
rs878854835
|
|
NM_006206.6(PDGFRA):c.984C>A (p.Asn328Lys)
|
rs1475172474
|
|
NM_006206.6(PDGFRA):c.986T>C (p.Leu329Pro)
|
rs1162814935
|
|
NM_006206.6(PDGFRA):c.990T>G (p.His330Gln)
|
rs1454468614
|
|
NM_006206.6(PDGFRA):c.993A>T (p.Glu331Asp)
|
rs1723112220
|
|
NM_006206.6(PDGFRA):c.994G>A (p.Val332Ile)
|
rs2110266847
|
|
NM_006206.6(PDGFRA):c.995T>A (p.Val332Asp)
|
rs878854837
|
|
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala)
|
rs878854837
|
|
NM_006206.6(PDGFRA):c.997A>G (p.Lys333Glu)
|
|
|
NM_006206.6(PDGFRA):c.998A>G (p.Lys333Arg)
|
rs1577715382
|
|
NM_006208.3(ENPP1):c.1437+3_1437+6del
|
rs747843796
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)
|
rs1195604374
|
|
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr)
|
rs5744800
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del)
|
rs1555225139
|
|
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu)
|
rs1565946576
|
|
NM_006231.4(POLE):c.4476C>G (p.His1492Gln)
|
rs5744943
|
|
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)
|
rs766511597
|
|
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn)
|
rs1565937957
|
|
NM_006231.4(POLE):c.4945A>G (p.Met1649Val)
|
rs1565937350
|
|
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg)
|
rs1565935906
|
|
NM_006231.4(POLE):c.5573G>A (p.Arg1858His)
|
rs1445288473
|
|
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr)
|
rs1565931961
|
|
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del)
|
rs757774039
|
|
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys)
|
rs1060500872
|
|
NM_006231.4(POLE):c.6747+5G>A
|
rs1555300791
|
|
NM_006412.4(AGPAT2):c.274T>C (p.Cys92Arg)
|
rs1554754454
|
|
NM_006412.4(AGPAT2):c.646_647= (p.Lys216=)
|
|
|
NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile)
|
rs1579964675
|
|
NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly)
|
rs1590917647
|
|
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)
|
rs1598243579
|
|
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)
|
rs1598243550
|
|
NM_006929.4(SKIC2):c.-193A>C
|
rs886061302
|
|
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_006941.4(SOX10):c.334A>G (p.Met112Val)
|
rs1555939439
|
|
NM_006941.4(SOX10):c.576del (p.Glu194fs)
|
|
|
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro)
|
rs1332625359
|
|
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln)
|
rs867455033
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007214.5(SEC63):c.*1061G>A
|
rs1786109364
|
|
NM_007214.5(SEC63):c.*1343G>A
|
rs886060952
|
|
NM_007214.5(SEC63):c.*1420T>G
|
rs1786099842
|
|
NM_007214.5(SEC63):c.*1433T>C
|
rs886060951
|
|
NM_007214.5(SEC63):c.*1471A>G
|
rs886060950
|
|
NM_007214.5(SEC63):c.*1475C>T
|
rs1786097916
|
|
NM_007214.5(SEC63):c.*1568G>A
|
rs1386667349
|
|
NM_007214.5(SEC63):c.*1650G>A
|
rs1048774131
|
|
NM_007214.5(SEC63):c.*1696G>A
|
rs1040060632
|
|
NM_007214.5(SEC63):c.*1725G>C
|
rs1786092371
|
|
NM_007214.5(SEC63):c.*1760T>C
|
rs1786091763
|
|
NM_007214.5(SEC63):c.*1787GTT[1]
|
rs886060949
|
|
NM_007214.5(SEC63):c.*1832A>G
|
rs1583715416
|
|
NM_007214.5(SEC63):c.*1927_*1932del
|
rs772400721
|
|
NM_007214.5(SEC63):c.*1931A>C
|
rs1162139145
|
|
NM_007214.5(SEC63):c.*1931dup
|
rs55885857
|
|
NM_007214.5(SEC63):c.*1932_*1933insA
|
rs886060946
|
|
NM_007214.5(SEC63):c.*1932_*1937del
|
rs886060945
|
|
NM_007214.5(SEC63):c.*2041A>G
|
rs1027905260
|
|
NM_007214.5(SEC63):c.*2223G>A
|
rs9986549
|
|
NM_007214.5(SEC63):c.*2287G>T
|
rs1040000139
|
|
NM_007214.5(SEC63):c.*2379G>C
|
rs997269603
|
|
NM_007214.5(SEC63):c.*2618C>A
|
rs1409152408
|
|
NM_007214.5(SEC63):c.*2704A>G
|
rs1786062150
|
|
NM_007214.5(SEC63):c.*273A>C
|
rs1786130714
|
|
NM_007214.5(SEC63):c.*2791T>C
|
rs1786060526
|
|
NM_007214.5(SEC63):c.*2862A>G
|
rs886060941
|
|
NM_007214.5(SEC63):c.*2946C>T
|
rs748298477
|
|
NM_007214.5(SEC63):c.*3031del
|
rs34250899
|
|
NM_007214.5(SEC63):c.*3031dup
|
rs34250899
|
|
NM_007214.5(SEC63):c.*3171G>C
|
rs542434422
|
|
NM_007214.5(SEC63):c.*3430A>G
|
rs1040445530
|
|
NM_007214.5(SEC63):c.*3434A>G
|
rs886060938
|
|
NM_007214.5(SEC63):c.*3456T>C
|
rs1786043838
|
|
NM_007214.5(SEC63):c.*3480dup
|
rs56104837
|
|
NM_007214.5(SEC63):c.*3705T>G
|
rs886060936
|
|
NM_007214.5(SEC63):c.*3800A>G
|
rs886060934
|
|
NM_007214.5(SEC63):c.*396T>C
|
rs368205255
|
|
NM_007214.5(SEC63):c.*432G>A
|
rs970506593
|
|
NM_007214.5(SEC63):c.*432G>T
|
rs970506593
|
|
NM_007214.5(SEC63):c.*577C>T
|
rs761474758
|
|
NM_007214.5(SEC63):c.-148T>G
|
rs1770753156
|
|
NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del)
|
rs2114443516
|
|
NM_007214.5(SEC63):c.1210-7del
|
rs370485907
|
|
NM_007214.5(SEC63):c.1441-10C>T
|
rs780555443
|
|
NM_007214.5(SEC63):c.1675-15G>C
|
rs886060954
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
NM_007214.5(SEC63):c.1936-27_1936-26dup
|
rs749125299
|
|
NM_007214.5(SEC63):c.1936-4_1936-3insT
|
rs773608064
|
|
NM_007214.5(SEC63):c.1936-4_1936-3insTTT
|
rs773608064
|
|
NM_007214.5(SEC63):c.1936-7_1936-6dup
|
rs766716921
|
|
NM_007214.5(SEC63):c.1936-7dup
|
rs766716921
|
|
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala)
|
rs755716600
|
|
NM_007214.5(SEC63):c.225-10T>A
|
rs886060958
|
|
NM_007214.5(SEC63):c.286dup (p.Thr96fs)
|
rs1787640678
|
|
NM_007214.5(SEC63):c.340-12dup
|
rs886060957
|
|
NM_007214.5(SEC63):c.340-8_340-7del
|
rs66526324
|
|
NM_007272.3(CTRC):c.*28T>G
|
rs1570787748
|
|
NM_007272.3(CTRC):c.-1C>T
|
|
|
NM_007272.3(CTRC):c.-2C>T
|
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
|
|
|
NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)
|
|
|
NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)
|
|
|
NM_007272.3(CTRC):c.120C>A (p.Ser40Arg)
|
|
|
NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)
|
|
|
NM_007272.3(CTRC):c.130del (p.Gln44fs)
|
rs1344551908
|
|
NM_007272.3(CTRC):c.134T>A (p.Ile45Asn)
|
|
|
NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)
|
|
|
NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)
|
|
|
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
|
|
|
NM_007272.3(CTRC):c.145T>C (p.Tyr49His)
|
rs78247007
|
|
NM_007272.3(CTRC):c.151A>G (p.Lys51Glu)
|
|
|
NM_007272.3(CTRC):c.157G>C (p.Asp53His)
|
|
|
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
|
|
|
NM_007272.3(CTRC):c.178G>A (p.Gly60Ser)
|
|
|
NM_007272.3(CTRC):c.194C>T (p.Ala65Val)
|
rs2103289502
|
|
NM_007272.3(CTRC):c.197G>A (p.Ser66Asn)
|
|
|
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
|
|
|
NM_007272.3(CTRC):c.205G>T (p.Val69Phe)
|
|
|
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
|
|
|
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser)
|
rs515726209
|
|
NM_007272.3(CTRC):c.220C>T (p.His74Tyr)
|
rs1557508393
|
|
NM_007272.3(CTRC):c.221A>G (p.His74Arg)
|
|
|
NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)
|
|
|
NM_007272.3(CTRC):c.226A>C (p.Ile76Leu)
|
|
|
NM_007272.3(CTRC):c.226A>G (p.Ile76Val)
|
|
|
NM_007272.3(CTRC):c.231-2A>G
|
rs1570783505
|
|
NM_007272.3(CTRC):c.238C>T (p.Arg80Trp)
|
rs779643710
|
|
NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)
|
|
|
NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)
|
|
|
NM_007272.3(CTRC):c.247C>T (p.Arg83Cys)
|
rs747679121
|
|
NM_007272.3(CTRC):c.248G>A (p.Arg83His)
|
rs781768384
|
|
NM_007272.3(CTRC):c.248G>T (p.Arg83Leu)
|
rs781768384
|
|
NM_007272.3(CTRC):c.253G>C (p.Ala85Pro)
|
|
|
NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)
|
|
|
NM_007272.3(CTRC):c.262A>G (p.Lys88Glu)
|
|
|
NM_007272.3(CTRC):c.268A>T (p.Asn90Tyr)
|
|
|
NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)
|
|
|
NM_007272.3(CTRC):c.271C>A (p.Leu91Met)
|
rs1407562830
|
|
NM_007272.3(CTRC):c.272T>C (p.Leu91Pro)
|
|
|
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
|
|
|
NM_007272.3(CTRC):c.274G>A (p.Glu92Lys)
|
|
|
NM_007272.3(CTRC):c.276G>C (p.Glu92Asp)
|
|
|
NM_007272.3(CTRC):c.277G>A (p.Val93Met)
|
|
|
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
|
|
|
NM_007272.3(CTRC):c.281A>C (p.Glu94Ala)
|
|
|
NM_007272.3(CTRC):c.289G>C (p.Glu97Gln)
|
|
|
NM_007272.3(CTRC):c.293G>T (p.Gly98Val)
|
|
|
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
|
|
|
NM_007272.3(CTRC):c.299T>C (p.Leu100Pro)
|
|
|
NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)
|
|
|
NM_007272.3(CTRC):c.302T>C (p.Phe101Ser)
|
|
|
NM_007272.3(CTRC):c.304G>T (p.Val102Leu)
|
|
|
NM_007272.3(CTRC):c.307G>A (p.Gly103Ser)
|
|
|
NM_007272.3(CTRC):c.308G>T (p.Gly103Val)
|
|
|
NM_007272.3(CTRC):c.308del (p.Gly103fs)
|
rs773119534
|
|
NM_007272.3(CTRC):c.316A>G (p.Thr106Ala)
|
|
|
NM_007272.3(CTRC):c.317C>T (p.Thr106Ile)
|
|
|
NM_007272.3(CTRC):c.324C>A (p.His108Gln)
|
|
|
NM_007272.3(CTRC):c.328del (p.His110fs)
|
|
|
NM_007272.3(CTRC):c.329A>G (p.His110Arg)
|
|
|
NM_007272.3(CTRC):c.330C>G (p.His110Gln)
|
|
|
NM_007272.3(CTRC):c.336A>T (p.Arg112Ser)
|
|
|
NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)
|
|
|
NM_007272.3(CTRC):c.341A>G (p.Asn114Ser)
|
|
|
NM_007272.3(CTRC):c.342T>A (p.Asn114Lys)
|
|
|
NM_007272.3(CTRC):c.343G>A (p.Ala115Thr)
|
|
|
NM_007272.3(CTRC):c.344C>T (p.Ala115Val)
|
|
|
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
|
|
|
NM_007272.3(CTRC):c.353T>G (p.Leu118Trp)
|
|
|
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
|
|
|
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
|
|
|
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
|
|
|
NM_007272.3(CTRC):c.368C>T (p.Ala123Val)
|
|
|
NM_007272.3(CTRC):c.370C>T (p.Leu124Phe)
|
|
|
NM_007272.3(CTRC):c.371T>A (p.Leu124His)
|
|
|
NM_007272.3(CTRC):c.371T>G (p.Leu124Arg)
|
|
|
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
|
|
|
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
|
|
|
NM_007272.3(CTRC):c.382G>A (p.Ala128Thr)
|
|
|
NM_007272.3(CTRC):c.40+6C>T
|
|
|
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
|
|
|
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
|
|
|
NM_007272.3(CTRC):c.406A>G (p.Thr136Ala)
|
|
|
NM_007272.3(CTRC):c.407C>T (p.Thr136Ile)
|
rs1302946061
|
|
NM_007272.3(CTRC):c.409A>C (p.Ile137Leu)
|
rs2103291436
|
|
NM_007272.3(CTRC):c.434A>G (p.Lys145Arg)
|
|
|
NM_007272.3(CTRC):c.436G>A (p.Asp146Asn)
|
|
|
NM_007272.3(CTRC):c.437A>T (p.Asp146Val)
|
|
|
NM_007272.3(CTRC):c.437del (p.Asp146fs)
|
|
|
NM_007272.3(CTRC):c.440C>G (p.Ser147Cys)
|
|
|
NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)
|
|
|
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
|
|
|
NM_007272.3(CTRC):c.449C>T (p.Pro150Leu)
|
|
|
NM_007272.3(CTRC):c.452A>G (p.Lys151Arg)
|
|
|
NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)
|
|
|
NM_007272.3(CTRC):c.455A>C (p.Asp152Ala)
|
|
|
NM_007272.3(CTRC):c.460C>G (p.Pro154Ala)
|
|
|
NM_007272.3(CTRC):c.466T>C (p.Tyr156His)
|
|
|
NM_007272.3(CTRC):c.475G>A (p.Gly159Ser)
|
|
|
NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)
|
|
|
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
|
|
|
NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)
|
|
|
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
|
|
|
NM_007272.3(CTRC):c.490_491del (p.Trp164fs)
|
rs2103291536
|
|
NM_007272.3(CTRC):c.491G>C (p.Trp164Ser)
|
|
|
NM_007272.3(CTRC):c.492G>T (p.Trp164Cys)
|
|
|
NM_007272.3(CTRC):c.493+2T>C
|
|
|
NM_007272.3(CTRC):c.493+3_493+6del
|
|
|
NM_007272.3(CTRC):c.494-1G>A
|
|
|
NM_007272.3(CTRC):c.494-2A>G
|
rs1708187577
|
|
NM_007272.3(CTRC):c.496A>C (p.Asn166His)
|
|
|
NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)
|
|
|
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser)
|
rs141205711
|
|
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg)
|
rs141205711
|
|
NM_007272.3(CTRC):c.502C>G (p.Pro168Ala)
|
|
|
NM_007272.3(CTRC):c.506T>C (p.Ile169Thr)
|
|
|
NM_007272.3(CTRC):c.521A>G (p.Gln174Arg)
|
|
|
NM_007272.3(CTRC):c.522G>C (p.Gln174His)
|
rs2103292282
|
|
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
|
|
|
NM_007272.3(CTRC):c.532C>G (p.Gln178Glu)
|
|
|
NM_007272.3(CTRC):c.539T>C (p.Val180Ala)
|
|
|
NM_007272.3(CTRC):c.551C>G (p.Ala184Gly)
|
|
|
NM_007272.3(CTRC):c.551C>T (p.Ala184Val)
|
|
|
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
|
|
|
NM_007272.3(CTRC):c.55G>A (p.Val19Met)
|
|
|
NM_007272.3(CTRC):c.55G>T (p.Val19Leu)
|
|
|
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys)
|
rs1355039968
|
|
NM_007272.3(CTRC):c.566T>C (p.Ile189Thr)
|
|
|
NM_007272.3(CTRC):c.56T>C (p.Val19Ala)
|
|
|
NM_007272.3(CTRC):c.574T>A (p.Trp192Arg)
|
|
|
NM_007272.3(CTRC):c.577G>T (p.Gly193Cys)
|
|
|
NM_007272.3(CTRC):c.578G>A (p.Gly193Asp)
|
|
|
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly)
|
rs1708189840
|
|
NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)
|
|
|
NM_007272.3(CTRC):c.595A>C (p.Thr199Pro)
|
|
|
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
|
|
|
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
|
|
|
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
|
|
|
NM_007272.3(CTRC):c.600G>C (p.Met200Ile)
|
|
|
NM_007272.3(CTRC):c.602T>A (p.Val201Glu)
|
|
|
NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
|
|
|
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
|
|
|
NM_007272.3(CTRC):c.615C>T (p.Gly205=)
|
rs756236720
|
|
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
|
|
|
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
|
|
|
NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
|
|
|
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro)
|
rs1570785775
|
|
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
|
|
|
NM_007272.3(CTRC):c.638A>G (p.Asn213Ser)
|
rs886045375
|
|
NM_007272.3(CTRC):c.639+2T>A
|
|
|
NM_007272.3(CTRC):c.642G>A (p.Gly214=)
|
rs1265655451
|
|
NM_007272.3(CTRC):c.643G>A (p.Asp215Asn)
|
rs1708203951
|
|
NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
|
|
|
NM_007272.3(CTRC):c.647C>T (p.Ser216Phe)
|
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)
|
|
|
NM_007272.3(CTRC):c.653G>A (p.Gly218Asp)
|
|
|
NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
|
|
|
NM_007272.3(CTRC):c.664T>C (p.Cys222Arg)
|
rs1570786538
|
|
NM_007272.3(CTRC):c.667C>G (p.Gln223Glu)
|
|
|
NM_007272.3(CTRC):c.668A>G (p.Gln223Arg)
|
|
|
NM_007272.3(CTRC):c.669G>C (p.Gln223His)
|
rs752651686
|
|
NM_007272.3(CTRC):c.672G>T (p.Leu224Phe)
|
|
|
NM_007272.3(CTRC):c.683C>A (p.Ser228Tyr)
|
|
|
NM_007272.3(CTRC):c.688G>A (p.Glu230Lys)
|
|
|
NM_007272.3(CTRC):c.698G>A (p.Gly233Asp)
|
|
|
NM_007272.3(CTRC):c.700A>G (p.Ile234Val)
|
|
|
NM_007272.3(CTRC):c.707G>C (p.Ser236Thr)
|
|
|
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe)
|
rs1708205861
|
|
NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
|
|
|
NM_007272.3(CTRC):c.721C>G (p.Arg241Gly)
|
|
|
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
|
|
|
NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
|
|
|
NM_007272.3(CTRC):c.736C>G (p.Arg246Gly)
|
|
|
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
|
NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)
|
|
|
NM_007272.3(CTRC):c.742A>G (p.Lys248Glu)
|
|
|
NM_007272.3(CTRC):c.745C>T (p.Pro249Ser)
|
|
|
NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
|
|
|
NM_007272.3(CTRC):c.757A>G (p.Thr253Ala)
|
|
|
NM_007272.3(CTRC):c.758C>A (p.Thr253Asn)
|
|
|
NM_007272.3(CTRC):c.758C>T (p.Thr253Ile)
|
rs780783336
|
|
NM_007272.3(CTRC):c.761G>A (p.Arg254Gln)
|
rs755811899
|
|
NM_007272.3(CTRC):c.761G>C (p.Arg254Pro)
|
rs755811899
|
|
NM_007272.3(CTRC):c.763G>A (p.Val255Met)
|
|
|
NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
|
|
|
NM_007272.3(CTRC):c.764T>G (p.Val255Gly)
|
|
|
NM_007272.3(CTRC):c.776T>C (p.Ile259Thr)
|
|
|
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr)
|
rs540753875
|
|
NM_007272.3(CTRC):c.779A>G (p.Asp260Gly)
|
|
|
NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)
|
|
|
NM_007272.3(CTRC):c.781T>C (p.Trp261Arg)
|
|
|
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
|
|
|
NM_007272.3(CTRC):c.783G>T (p.Trp261Cys)
|
|
|
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
|
|
|
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)
|
rs769975164
|
|
NM_007272.3(CTRC):c.790G>A (p.Glu264Lys)
|
|
|
NM_007272.3(CTRC):c.790G>C (p.Glu264Gln)
|
|
|
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
|
|
|
NM_007272.3(CTRC):c.793-18T>A
|
rs1708224385
|
|
NM_007272.3(CTRC):c.797T>G (p.Met266Arg)
|
rs1708224626
|
|
NM_007272.3(CTRC):c.798G>C (p.Met266Ile)
|
|
|
NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)
|
|
|
NM_007272.3(CTRC):c.800A>G (p.Gln267Arg)
|
|
|
NM_007272.3(CTRC):c.803T>A (p.Leu268Gln)
|
rs886045376
|
|
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg)
|
rs1570787652
|
|
NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)
|
|
|
NM_007272.3(CTRC):c.83C>T (p.Ala28Val)
|
|
|
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
|
|
|
NM_007272.3(CTRC):c.86G>T (p.Arg29Leu)
|
rs772024986
|
|
NM_007272.3(CTRC):c.89T>C (p.Val30Ala)
|
|
|
NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)
|
|
|
NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)
|
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)
|
rs1555588389
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)
|
rs2053486938
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)
|
rs786202165
|
|
NM_007294.4(BRCA1):c.4983A>G (p.Glu1661=)
|
rs2052354666
|
|
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)
|
rs886040263
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5232A>G (p.Arg1744=)
|
rs2051514714
|
|
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5461T>C (p.Phe1821Leu)
|
rs2050978032
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser)
|
rs1693169265
|
|
NM_007315.4(STAT1):c.1052T>G (p.Leu351Trp)
|
rs1559013693
|
|
NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe)
|
rs1064794955
|
|
NM_007315.4(STAT1):c.1067A>G (p.Tyr356Cys)
|
rs2125043988
|
|
NM_007315.4(STAT1):c.1069A>G (p.Asn357Asp)
|
rs2125043975
|
|
NM_007315.4(STAT1):c.1073T>C (p.Leu358Ser)
|
rs2125043967
|
|
NM_007315.4(STAT1):c.1078G>T (p.Val360Phe)
|
rs2125043964
|
|
NM_007315.4(STAT1):c.1106A>G (p.Asn369Ser)
|
|
|
NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)
|
|
|
NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)
|
|
|
NM_007315.4(STAT1):c.1127+13C>G
|
|
|
NM_007315.4(STAT1):c.1127+3A>G
|
|
|
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
|
|
|
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
|
|
|
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
|
|
|
NM_007315.4(STAT1):c.1168A>G (p.Met390Val)
|
rs1574648919
|
|
NM_007315.4(STAT1):c.1169T>C (p.Met390Thr)
|
rs1553494436
|
|
NM_007315.4(STAT1):c.1170G>A (p.Met390Ile)
|
|
|
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu)
|
rs1692872913
|
|
NM_007315.4(STAT1):c.1221+6G>T
|
rs1692870587
|
|
NM_007315.4(STAT1):c.1221+9A>G
|
rs2125034622
|
|
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
|
|
|
NM_007315.4(STAT1):c.1251C>T (p.Thr417=)
|
|
|
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg)
|
rs1347113886
|
|
NM_007315.4(STAT1):c.1263+4A>G
|
rs1692742284
|
|
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
|
|
|
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val)
|
rs1181214715
|
|
NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)
|
|
|
NM_007315.4(STAT1):c.1333G>A (p.Val445Ile)
|
rs753695026
|
|
NM_007315.4(STAT1):c.1347+3A>G
|
rs1574645914
|
|
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
|
|
|
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
|
|
|
NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)
|
|
|
NM_007315.4(STAT1):c.1380C>T (p.Asn460=)
|
|
|
NM_007315.4(STAT1):c.1386C>A (p.Ser462Arg)
|
|
|
NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)
|
|
|
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
|
|
|
NM_007315.4(STAT1):c.1469C>T (p.Pro490Leu)
|
rs2125018475
|
|
NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)
|
|
|
NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)
|
|
|
NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)
|
|
|
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe)
|
rs2125018329
|
|
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly)
|
rs2125013089
|
|
NM_007315.4(STAT1):c.1613C>T (p.Pro538Leu)
|
|
|
NM_007315.4(STAT1):c.1629T>G (p.Cys543Trp)
|
rs1574642464
|
|
NM_007315.4(STAT1):c.1632+6del
|
rs759601214
|
|
NM_007315.4(STAT1):c.1643A>G (p.Asn548Ser)
|
|
|
NM_007315.4(STAT1):c.1657C>T (p.Pro553Ser)
|
|
|
NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln)
|
rs1574641583
|
|
NM_007315.4(STAT1):c.1687G>C (p.Glu563Gln)
|
rs2125010416
|
|
NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)
|
|
|
NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)
|
|
|
NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)
|
|
|
NM_007315.4(STAT1):c.1727+6G>C
|
|
|
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
|
|
|
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln)
|
rs144788879
|
|
NM_007315.4(STAT1):c.1765G>A (p.Ala589Thr)
|
rs745491762
|
|
NM_007315.4(STAT1):c.1765G>C (p.Ala589Pro)
|
|
|
NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)
|
|
|
NM_007315.4(STAT1):c.1787C>T (p.Pro596Leu)
|
|
|
NM_007315.4(STAT1):c.178C>T (p.Leu60Phe)
|
rs2125100882
|
|
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
|
|
|
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
|
|
|
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
|
|
|
NM_007315.4(STAT1):c.1874-3T>C
|
rs2125000778
|
|
NM_007315.4(STAT1):c.1886A>T (p.His629Leu)
|
rs1691957289
|
|
NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)
|
|
|
NM_007315.4(STAT1):c.193G>A (p.Asp65Asn)
|
rs1574672739
|
|
NM_007315.4(STAT1):c.1942A>G (p.Ile648Val)
|
|
|
NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser)
|
rs776429557
|
|
NM_007315.4(STAT1):c.194A>G (p.Asp65Gly)
|
|
|
NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)
|
|
|
NM_007315.4(STAT1):c.1976T>C (p.Ile659Thr)
|
rs2125000384
|
|
NM_007315.4(STAT1):c.1989_1997dup (p.Leu667_Tyr668insLysTyrLeu)
|
|
|
NM_007315.4(STAT1):c.2009A>G (p.Asn670Ser)
|
rs2125000268
|
|
NM_007315.4(STAT1):c.200A>G (p.Gln67Arg)
|
|
|
NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)
|
|
|
NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)
|
|
|
NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)
|
|
|
NM_007315.4(STAT1):c.2059+6_2059+7del
|
rs1691942843
|
|
NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)
|
|
|
NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)
|
|
|
NM_007315.4(STAT1):c.208C>T (p.Arg70Cys)
|
|
|
NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
|
|
|
NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)
|
|
|
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu)
|
rs1691783002
|
|
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs)
|
rs1691780324
|
|
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
|
|
|
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
|
|
|
NM_007315.4(STAT1):c.2238+6T>C
|
|
|
NM_007315.4(STAT1):c.2239-16T>G
|
|
|
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
|
|
|
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys)
|
rs1694920831
|
|
NM_007315.4(STAT1):c.274-6A>G
|
rs2125097234
|
|
NM_007315.4(STAT1):c.295A>G (p.Ile99Val)
|
|
|
NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)
|
|
|
NM_007315.4(STAT1):c.358C>G (p.Gln120Glu)
|
rs1694803399
|
|
NM_007315.4(STAT1):c.373-10C>G
|
|
|
NM_007315.4(STAT1):c.389T>C (p.Ile130Thr)
|
rs1694239561
|
|
NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)
|
|
|
NM_007315.4(STAT1):c.400G>T (p.Val134Leu)
|
|
|
NM_007315.4(STAT1):c.434A>G (p.Lys145Arg)
|
rs2125079464
|
|
NM_007315.4(STAT1):c.463-6T>G
|
|
|
NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)
|
|
|
NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)
|
|
|
NM_007315.4(STAT1):c.489_497del (p.Glu164_Leu166del)
|
rs2125075101
|
|
NM_007315.4(STAT1):c.496_504del (p.Leu166_Asp168del)
|
rs2125075085
|
|
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
|
|
|
NM_007315.4(STAT1):c.501A>C (p.Gln167His)
|
|
|
NM_007315.4(STAT1):c.506A>T (p.Glu169Val)
|
|
|
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg)
|
rs2125074995
|
|
NM_007315.4(STAT1):c.536_538del (p.Asn179del)
|
rs2125074976
|
|
NM_007315.4(STAT1):c.595C>T (p.Leu199Phe)
|
rs1693998248
|
|
NM_007315.4(STAT1):c.596T>C (p.Leu199Pro)
|
rs1693998068
|
|
NM_007315.4(STAT1):c.623A>G (p.Asn208Ser)
|
rs1693996687
|
|
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys)
|
rs1693996119
|
|
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
|
|
|
NM_007315.4(STAT1):c.68A>T (p.Asp23Val)
|
rs1694998227
|
|
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
|
|
|
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
|
|
|
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
|
|
|
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro)
|
rs2125069735
|
|
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
|
|
|
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)
|
rs1574657750
|
|
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu)
|
rs1693752377
|
|
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
|
|
|
NM_007315.4(STAT1):c.871C>T (p.His291Tyr)
|
rs2125062260
|
|
NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)
|
|
|
NM_007315.4(STAT1):c.877C>G (p.Pro293Ala)
|
rs2125062189
|
|
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del)
|
rs1693749076
|
|
NM_007315.4(STAT1):c.878C>T (p.Pro293Leu)
|
|
|
NM_007315.4(STAT1):c.88A>G (p.Ile30Val)
|
|
|
NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)
|
|
|
NM_007315.4(STAT1):c.934C>T (p.Leu312Phe)
|
rs1574657656
|
|
NM_007315.4(STAT1):c.937A>G (p.Ile313Val)
|
|
|
NM_007315.4(STAT1):c.945-5T>G
|
rs1574653475
|
|
NM_007315.4(STAT1):c.955G>A (p.Val319Met)
|
rs1693315914
|
|
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser)
|
rs1693314120
|
|
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg)
|
rs1693312947
|
|
NM_012079.6(DGAT1):c.1073G>C (p.Arg358Pro)
|
rs374729844
|
|
NM_012079.6(DGAT1):c.1095-3dup
|
rs541041759
|
|
NM_012079.6(DGAT1):c.1246G>A (p.Glu416Lys)
|
|
|
NM_012079.6(DGAT1):c.602A>G (p.His201Arg)
|
rs2130520497
|
|
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)
|
rs782577883
|
|
NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys)
|
rs150434452
|
|
NM_012079.6(DGAT1):c.836T>C (p.Leu279Pro)
|
|
|
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)
|
|
|
NM_012134.3(LMOD1):c.1433G>A (p.Arg478Gln)
|
|
|
NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)
|
rs1602513371
|
|
NM_012232.6(CAVIN1):c.1038CGA[3] (p.Asp349del)
|
rs767832643
|
|
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)
|
rs537998274
|
|
NM_012232.6(CAVIN1):c.55G>A (p.Ala19Thr)
|
rs185645510
|
|
NM_013336.4(SEC61A1):c.707G>A (p.Arg236His)
|
rs2107647595
|
|
NM_013372.7(GREM1):c.77A>G (p.Lys26Arg)
|
|
|
NM_014009.4(FOXP3):c.*878A>G
|
rs2066021673
|
|
NM_014009.4(FOXP3):c.-23+3G>A
|
|
|
NM_014009.4(FOXP3):c.-23+4A>G
|
rs1216773491
|
|
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
|
|
|
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr)
|
rs782649847
|
|
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu)
|
rs2066088699
|
|
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys)
|
rs782539207
|
|
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
|
|
|
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val)
|
rs1557115789
|
|
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys)
|
rs2066044558
|
|
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
|
|
|
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp)
|
rs1557115591
|
|
NM_014009.4(FOXP3):c.1147-12G>A
|
rs370285865
|
|
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile)
|
rs1569529568
|
|
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
|
|
|
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
|
|
|
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
|
|
|
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn)
|
rs1317916668
|
|
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
|
|
|
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His)
|
rs2066029760
|
|
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg)
|
rs2066029479
|
|
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met)
|
rs2147949758
|
|
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
|
|
|
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del)
|
rs781861708
|
|
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
|
|
|
NM_014009.4(FOXP3):c.210+5G>A
|
|
|
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
|
|
|
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
|
|
|
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
|
|
|
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
|
|
|
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
|
|
|
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn)
|
rs2147949106
|
|
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr)
|
rs1398753395
|
|
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser)
|
rs1398753395
|
|
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
|
|
|
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
|
|
|
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
|
|
|
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr)
|
rs1057524899
|
|
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
|
|
|
NM_014009.4(FOXP3):c.430A>G (p.Lys144Glu)
|
rs1557116530
|
|
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser)
|
rs1557116520
|
|
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
|
|
|
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
|
|
|
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp)
|
rs2147948631
|
|
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu)
|
rs1279942582
|
|
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
|
|
|
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr)
|
rs1284218417
|
|
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
|
|
|
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
|
|
|
NM_014009.4(FOXP3):c.542+6T>C
|
|
|
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile)
|
rs1602686006
|
|
NM_014009.4(FOXP3):c.543-3C>T
|
rs1557116438
|
|
NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)
|
|
|
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
|
|
|
NM_014009.4(FOXP3):c.616_618del (p.Lys206del)
|
rs2066076242
|
|
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
|
|
|
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
|
|
|
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser)
|
rs374109896
|
|
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr)
|
rs2147948474
|
|
NM_014009.4(FOXP3):c.648-3T>C
|
|
|
NM_014009.4(FOXP3):c.650A>G (p.His217Arg)
|
rs1045776635
|
|
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
|
|
|
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr)
|
rs2147947523
|
|
NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)
|
|
|
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
|
|
|
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu)
|
rs2147947487
|
|
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
|
|
|
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu)
|
rs2147947305
|
|
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
|
|
|
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
|
|
|
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys)
|
rs2147949688
|
|
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
|
|
|
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
|
|
|
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
|
|
|
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
|
|
|
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
|
|
|
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
|
|
|
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala)
|
rs2066051349
|
|
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys)
|
rs2147946014
|
|
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly)
|
rs782635427
|
|
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
|
|
|
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
|
|
|
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
|
|
|
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
|
|
|
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
|
|
|
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu)
|
rs143869281
|
|
NM_014009.4(FOXP3):c.967+3A>T
|
rs2066050512
|
|
NM_014009.4(FOXP3):c.967+4A>G
|
rs1426535368
|
|
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys)
|
rs2066050534
|
|
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu)
|
rs122467173
|
|
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val)
|
rs122467173
|
|
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
|
|
|
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr)
|
rs2147945481
|
|
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)
|
|
|
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile)
|
rs200028794
|
|
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys)
|
rs1596137692
|
|
NM_014633.5(CTR9):c.85G>A (p.Glu29Lys)
|
|
|
NM_014639.4(SKIC3):c.*1C>G
|
|
|
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=)
|
rs1747534368
|
|
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
|
|
|
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val)
|
rs1747497202
|
|
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys)
|
rs1347862457
|
|
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
|
|
|
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
|
|
|
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)
|
rs755895621
|
|
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg)
|
rs757945497
|
|
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)
|
rs1573707562
|
|
NM_014805.3(EPM2AIP1):c.-102T>C
|
|
|
NM_014805.4(EPM2AIP1):c.7A>G (p.Met3Val)
|
|
|
NM_015077.4(SARM1):c.*1389G>A
|
rs41297919
|
|
NM_015077.4(SARM1):c.*167T>C
|
rs886052743
|
|
NM_015077.4(SARM1):c.*1743A>T
|
rs886052747
|
|
NM_015077.4(SARM1):c.*1987T>C
|
rs560836860
|
|
NM_015077.4(SARM1):c.*2035G>A
|
rs1390797851
|
|
NM_015077.4(SARM1):c.*3093T>C
|
rs886052751
|
|
NM_015077.4(SARM1):c.*3280C>T
|
rs782079474
|
|
NM_015077.4(SARM1):c.*3366C>A
|
rs886052753
|
|
NM_015077.4(SARM1):c.*361C>T
|
rs2239910
|
|
NM_015077.4(SARM1):c.*425C>T
|
rs1339848912
|
|
NM_015077.4(SARM1):c.*469G>A
|
rs2068129559
|
|
NM_015077.4(SARM1):c.*68T>C
|
rs886052742
|
|
NM_015077.4(SARM1):c.*709C>G
|
rs886052745
|
|
NM_015077.4(SARM1):c.*857C>G
|
rs576823032
|
|
NM_015077.4(SARM1):c.*884A>G
|
rs537647948
|
|
NM_015077.4(SARM1):c.*969C>T
|
rs555975005
|
|
NM_015077.4(SARM1):c.1924-162T>A
|
rs886052739
|
|
NM_015077.4(SARM1):c.1924-433A>C
|
rs2068108606
|
|
NM_015077.4(SARM1):c.1924-874_1924-873dup
|
rs34879232
|
|
NM_015077.4(SARM1):c.1924-991T>C
|
rs886052736
|
|
NM_015077.4(SARM1):c.1998G>C (p.Gln666His)
|
rs886052741
|
|
NM_015077.4(SARM1):c.2045+27G>A
|
rs782370729
|
|
NM_015077.4(SARM1):c.2089C>G (p.Arg697Gly)
|
rs372946020
|
|
NM_015077.4(SARM1):c.2143T>C (p.Leu715=)
|
rs781986662
|
|
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
|
|
|
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
|
|
|
NM_015634.3:c.905_1020del
|
|
|
NM_015634.4(KIFBP):c.*233C>G
|
rs1359347457
|
|
NM_015634.4(KIFBP):c.*271T>C
|
rs1839011438
|
|
NM_015634.4(KIFBP):c.*306A>G
|
rs906078001
|
|
NM_015634.4(KIFBP):c.*39T>A
|
rs756615646
|
|
NM_015634.4(KIFBP):c.*486G>A
|
rs752736908
|
|
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs)
|
rs769950460
|
|
NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile)
|
rs1457900956
|
|
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs)
|
rs781469363
|
|
NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln)
|
rs1839004363
|
|
NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs)
|
rs1216570912
|
|
NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe)
|
rs1339934594
|
|
NM_015634.4(KIFBP):c.318C>T (p.Ile106=)
|
rs1248105995
|
|
NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser)
|
rs1589296239
|
|
NM_015634.4(KIFBP):c.875-10T>C
|
rs1843582622
|
|
NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys)
|
rs76319365
|
|
NM_015634.4(KIFBP):c.985A>G (p.Met329Val)
|
|
|
NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)
|
|
|
NM_015874.6(RBPJ):c.1064T>A (p.Val355Glu)
|
rs1141521
|
|
NM_015874.6(RBPJ):c.1066G>C (p.Ala356Pro)
|
rs1577681438
|
|
NM_015874.6(RBPJ):c.1168del (p.Cys390fs)
|
rs1577682042
|
|
NM_015874.6(RBPJ):c.1183A>G (p.Ile395Val)
|
rs1064381
|
|
NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln)
|
rs1577662911
|
|
NM_015874.6(RBPJ):c.394A>G (p.Met132Val)
|
rs1577662961
|
|
NM_015909.4(NBAS):c.270G>C (p.Trp90Cys)
|
rs1664524026
|
|
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn)
|
rs750091340
|
|
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val)
|
rs1553367826
|
|
NM_015909.4(NBAS):c.4737C>A (p.Ser1579Arg)
|
rs2148158698
|
|
NM_015909.4(NBAS):c.5465_5467delinsCTT (p.Asn1822_Ile1823delinsThrPhe)
|
rs2148055634
|
|
NM_015909.4(NBAS):c.6237-10T>C
|
rs1666790331
|
|
NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)
|
|
|
NM_015909.4(NBAS):c.954+4848C>T
|
rs2148627761
|
|
NM_016103.4(SAR1B):c.344T>C (p.Leu115Pro)
|
rs2150050070
|
|
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
|
|
|
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val)
|
rs1393437679
|
|
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
|
|
|
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
|
|
|
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg)
|
rs756047736
|
|
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
|
|
|
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
|
|
|
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val)
|
rs375119774
|
|
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
|
|
|
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
|
|
|
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
|
|
|
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
|
|
|
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
|
|
|
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
|
|
|
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
|
|
|
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
|
|
|
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
|
|
|
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
|
|
|
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
|
|
|
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
|
|
|
NM_016356.5(DCDC2):c.71A>C (p.Asn24Thr)
|
rs2127257711
|
|
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg)
|
rs948355469
|
|
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
|
|
|
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp)
|
rs1438044739
|
|
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
|
|
|
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)
|
rs760375899
|
|
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His)
|
rs748676214
|
|
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
|
|
|
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
|
|
|
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro)
|
rs77150627
|
|
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser)
|
rs1416369642
|
|
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)
|
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro)
|
rs1589054568
|
|
NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly)
|
rs1581992148
|
|
NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala)
|
rs1581992092
|
|
NM_017763.6(RNF43):c.100G>A (p.Ala34Thr)
|
|
|
NM_017763.6(RNF43):c.103G>A (p.Ala35Thr)
|
|
|
NM_017763.6(RNF43):c.106G>A (p.Val36Met)
|
|
|
NM_017763.6(RNF43):c.1087C>G (p.Arg363Gly)
|
rs761926947
|
|
NM_017763.6(RNF43):c.1103G>A (p.Arg368Gln)
|
|
|
NM_017763.6(RNF43):c.1133C>G (p.Ser378Cys)
|
|
|
NM_017763.6(RNF43):c.1156C>T (p.Arg386Trp)
|
|
|
NM_017763.6(RNF43):c.1175G>C (p.Arg392Thr)
|
|
|
NM_017763.6(RNF43):c.1189C>T (p.Arg397Trp)
|
|
|
NM_017763.6(RNF43):c.1249G>C (p.Gly417Arg)
|
|
|
NM_017763.6(RNF43):c.1361G>A (p.Arg454His)
|
|
|
NM_017763.6(RNF43):c.1405G>C (p.Gly469Arg)
|
|
|
NM_017763.6(RNF43):c.1463A>T (p.Gln488Leu)
|
|
|
NM_017763.6(RNF43):c.1478G>A (p.Ser493Asn)
|
|
|
NM_017763.6(RNF43):c.1491C>A (p.Phe497Leu)
|
rs895521963
|
|
NM_017763.6(RNF43):c.1504A>G (p.Ser502Gly)
|
|
|
NM_017763.6(RNF43):c.1544G>A (p.Gly515Glu)
|
|
|
NM_017763.6(RNF43):c.1586G>A (p.Arg529Gln)
|
rs753874515
|
|
NM_017763.6(RNF43):c.1591C>T (p.Arg531Cys)
|
|
|
NM_017763.6(RNF43):c.1606G>T (p.Val536Leu)
|
|
|
NM_017763.6(RNF43):c.1639C>T (p.His547Tyr)
|
|
|
NM_017763.6(RNF43):c.1642G>A (p.Val548Ile)
|
rs375113334
|
|
NM_017763.6(RNF43):c.1661G>A (p.Arg554Gln)
|
|
|
NM_017763.6(RNF43):c.1681C>T (p.Arg561Trp)
|
|
|
NM_017763.6(RNF43):c.172A>G (p.Thr58Ala)
|
rs142864107
|
|
NM_017763.6(RNF43):c.1751G>A (p.Arg584Gln)
|
|
|
NM_017763.6(RNF43):c.1780_1782del (p.Pro594del)
|
|
|
NM_017763.6(RNF43):c.1898G>A (p.Cys633Tyr)
|
|
|
NM_017763.6(RNF43):c.1912A>T (p.Ser638Cys)
|
|
|
NM_017763.6(RNF43):c.1953C>A (p.His651Gln)
|
|
|
NM_017763.6(RNF43):c.1970G>A (p.Arg657Gln)
|
rs142097313
|
|
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)
|
rs755128667
|
|
NM_017763.6(RNF43):c.2015C>T (p.Ala672Val)
|
|
|
NM_017763.6(RNF43):c.2093C>T (p.Pro698Leu)
|
|
|
NM_017763.6(RNF43):c.2108C>T (p.Pro703Leu)
|
|
|
NM_017763.6(RNF43):c.2127GCT[1] (p.Leu711del)
|
|
|
NM_017763.6(RNF43):c.2147G>T (p.Gly716Val)
|
rs765464591
|
|
NM_017763.6(RNF43):c.2182_2183insAA (p.Cys728Ter)
|
rs1373662375
|
|
NM_017763.6(RNF43):c.2194C>T (p.Arg732Cys)
|
rs775335997
|
|
NM_017763.6(RNF43):c.2248G>A (p.Asp750Asn)
|
|
|
NM_017763.6(RNF43):c.2267C>G (p.Pro756Arg)
|
rs757324156
|
|
NM_017763.6(RNF43):c.2284T>C (p.Cys762Arg)
|
|
|
NM_017763.6(RNF43):c.2338G>C (p.Glu780Gln)
|
|
|
NM_017763.6(RNF43):c.344C>T (p.Ala115Val)
|
|
|
NM_017763.6(RNF43):c.364C>G (p.Leu122Val)
|
|
|
NM_017763.6(RNF43):c.377C>T (p.Ala126Val)
|
rs778962170
|
|
NM_017763.6(RNF43):c.466G>A (p.Gly156Arg)
|
|
|
NM_017763.6(RNF43):c.472A>G (p.Thr158Ala)
|
|
|
NM_017763.6(RNF43):c.538C>G (p.Gln180Glu)
|
|
|
NM_017763.6(RNF43):c.548A>G (p.His183Arg)
|
rs1230901623
|
|
NM_017763.6(RNF43):c.563T>C (p.Leu188Pro)
|
|
|
NM_017763.6(RNF43):c.575del (p.Pro192fs)
|
|
|
NM_017763.6(RNF43):c.578C>T (p.Ala193Val)
|
|
|
NM_017763.6(RNF43):c.626T>C (p.Ile209Thr)
|
|
|
NM_017763.6(RNF43):c.656G>A (p.Arg219His)
|
|
|
NM_017763.6(RNF43):c.668G>A (p.Arg223His)
|
|
|
NM_017763.6(RNF43):c.714G>A (p.Trp238Ter)
|
|
|
NM_017763.6(RNF43):c.721A>G (p.Ser241Gly)
|
|
|
NM_017763.6(RNF43):c.730G>A (p.Ala244Thr)
|
|
|
NM_017763.6(RNF43):c.731C>A (p.Ala244Asp)
|
|
|
NM_017763.6(RNF43):c.779C>G (p.Pro260Arg)
|
|
|
NM_017763.6(RNF43):c.820A>C (p.Ile274Leu)
|
|
|
NM_017763.6(RNF43):c.857G>A (p.Arg286Gln)
|
rs1329721997
|
|
NM_017763.6(RNF43):c.887G>A (p.Arg296His)
|
rs1459309530
|
|
NM_017763.6(RNF43):c.914A>G (p.Gln305Arg)
|
rs889865921
|
|
NM_017763.6(RNF43):c.937A>G (p.Met313Val)
|
|
|
NM_017763.6(RNF43):c.952+5G>C
|
|
|
NM_017763.6(RNF43):c.974_977delinsGCCG (p.Ser325_Leu326delinsCysArg)
|
|
|
NM_018006.4(TRMU):c.-113G>C
|
rs182529223
|
|
NM_018006.5(TRMU):c.*105A>G
|
rs2078637723
|
|
NM_018006.5(TRMU):c.-35G>A
|
rs775079522
|
|
NM_018006.5(TRMU):c.-454_-452del
|
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro)
|
rs138586787
|
|
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)
|
rs774047684
|
|
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
|
|
|
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly)
|
rs2078020035
|
|
NM_018006.5(TRMU):c.256T>C (p.Leu86=)
|
rs2078169664
|
|
NM_018006.5(TRMU):c.271A>G (p.Lys91Glu)
|
rs886057610
|
|
NM_018006.5(TRMU):c.289C>T (p.Pro97Ser)
|
rs886042713
|
|
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
|
|
|
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp)
|
rs2078260817
|
|
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser)
|
rs2078383974
|
|
NM_018006.5(TRMU):c.705+10G>A
|
rs1440658479
|
|
NM_018006.5(TRMU):c.773-12_773-9del
|
rs863224241
|
|
NM_018006.5(TRMU):c.82+8G>A
|
rs1601929107
|
|
NM_018006.5(TRMU):c.865G>A (p.Val289Met)
|
rs886057611
|
|
NM_018006.5(TRMU):c.941C>T (p.Ala314Val)
|
rs760149424
|
|
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala)
|
rs150128284
|
|
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu)
|
rs1578240731
|
|
NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys)
|
|
|
NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu)
|
rs2036591621
|
|
NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro)
|
rs1291676751
|
|
NM_020066.5(FMN2):c.162del (p.Gly55fs)
|
rs1572736047
|
|
NM_020117.11(LARS1):c.1094C>G (p.Pro365Arg)
|
|
|
NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly)
|
rs1753185601
|
|
NM_020117.11(LARS1):c.185G>A (p.Gly62Glu)
|
rs745880730
|
|
NM_020117.11(LARS1):c.242G>T (p.Gly81Val)
|
rs1561495759
|
|
NM_020117.11(LARS1):c.903del (p.Gln302fs)
|
rs749373022
|
|
NM_020117.11(LARS1):c.970T>G (p.Phe324Val)
|
rs1753582790
|
|
NM_020485.5(RHCE):c.148+2367_676dup
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_020975.6(RET):c.*159G>T
|
rs1838381962
|
|
NM_020975.6(RET):c.*1646T>G
|
rs886047011
|
|
NM_020975.6(RET):c.*1797T>C
|
rs886047013
|
|
NM_020975.6(RET):c.*1797T>G
|
rs886047013
|
|
NM_020975.6(RET):c.*180G>A
|
rs1838382247
|
|
NM_020975.6(RET):c.*1886T>G
|
rs1019095754
|
|
NM_020975.6(RET):c.*500C>G
|
rs564665995
|
|
NM_020975.6(RET):c.*506G>T
|
rs886046995
|
|
NM_020975.6(RET):c.*538G>T
|
rs886046997
|
|
NM_020975.6(RET):c.*883G>A
|
rs1838396430
|
|
NM_020975.6(RET):c.-173A>G
|
rs1359755826
|
|
NM_020975.6(RET):c.1039G>A (p.Val347Met)
|
rs1467660660
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
NM_020975.6(RET):c.1264-5C>G
|
rs9282835
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1303G>A (p.Gly435Ser)
|
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
NM_020975.6(RET):c.1412A>C (p.Lys471Thr)
|
rs2132771245
|
|
NM_020975.6(RET):c.1426C>A (p.Pro476Thr)
|
rs1588871312
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1567A>C (p.Lys523Gln)
|
rs766278774
|
|
NM_020975.6(RET):c.1573C>G (p.Arg525Gly)
|
rs545625150
|
|
NM_020975.6(RET):c.158T>C (p.Val53Ala)
|
|
|
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)
|
|
|
NM_020975.6(RET):c.1633C>A (p.Gln545Lys)
|
rs890269439
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1783G>A (p.Glu595Lys)
|
rs1483605155
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
NM_020975.6(RET):c.199C>G (p.Arg67Gly)
|
rs749390385
|
|
NM_020975.6(RET):c.2003C>T (p.Pro668Leu)
|
rs1482522995
|
|
NM_020975.6(RET):c.2077C>T (p.Arg693Cys)
|
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)
|
rs760272063
|
|
NM_020975.6(RET):c.2297C>T (p.Pro766Leu)
|
rs1017108031
|
|
NM_020975.6(RET):c.2330A>G (p.Asn777Ser)
|
rs377767415
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2420C>T (p.Ala807Val)
|
rs1554819523
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
NM_020975.6(RET):c.2515G>A (p.Asp839Asn)
|
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2566T>G (p.Trp856Gly)
|
rs1838163811
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2623T>G (p.Leu875Val)
|
rs1588877642
|
|
NM_020975.6(RET):c.2693A>T (p.Asp898Val)
|
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr)
|
rs1838228352
|
|
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly)
|
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp)
|
rs945693739
|
|
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter)
|
rs767479170
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)
|
rs1564502609
|
|
NM_020975.6(RET):c.338-7T>G
|
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
NM_020975.6(RET):c.47T>A (p.Leu16Gln)
|
rs1564480893
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.487C>T (p.Arg163Trp)
|
rs371153966
|
|
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
|
|
|
NM_020975.6(RET):c.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
NM_020975.6(RET):c.566G>A (p.Arg189His)
|
rs753707182
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.657C>G (p.Asp219Glu)
|
rs1837729196
|
|
NM_020975.6(RET):c.712G>C (p.Glu238Gln)
|
|
|
NM_020975.6(RET):c.737A>T (p.His246Leu)
|
|
|
NM_020975.6(RET):c.757G>A (p.Val253Met)
|
rs587780816
|
|
NM_020975.6(RET):c.796G>A (p.Asp266Asn)
|
rs1554817823
|
|
NM_020975.6(RET):c.826G>T (p.Val276Phe)
|
rs139213499
|
|
NM_020975.6(RET):c.847G>C (p.Val283Leu)
|
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
NM_020975.6(RET):c.889C>T (p.Arg297Cys)
|
|
|
NM_020975.6(RET):c.898G>A (p.Asp300Asn)
|
rs2132719351
|
|
NM_020975.6(RET):c.920C>T (p.Ser307Leu)
|
rs1554817979
|
|
NM_020975.6(RET):c.950C>T (p.Thr317Met)
|
rs760322514
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.983C>T (p.Thr328Ile)
|
|
|
NM_020999.4(NEUROG3):c.221A>G (p.Glu74Gly)
|
|
|
NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)
|
|
|
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del)
|
rs1304094668
|
|
NM_021930.6(RINT1):c.29C>A (p.Ser10Tyr)
|
rs1301146115
|
|
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter)
|
rs1562847240
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp)
|
rs746527671
|
|
NM_022895.3(C12orf43):c.*1890C>A
|
rs886049035
|
|
NM_022895.3(C12orf43):c.*2626G>A
|
rs1877483762
|
|
NM_022895.3(C12orf43):c.*2765C>T
|
rs1877471070
|
|
NM_022895.3(C12orf43):c.*2768G>T
|
rs972789249
|
|
NM_022895.3(C12orf43):c.*2922C>G
|
rs758414199
|
|
NM_023083.4(CAPN10):c.1720C>G (p.Pro574Ala)
|
|
|
NM_023934.4(FUNDC2):c.361-2517_0del
|
|
|
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
|
rs376704970
|
|
NM_024079.5(ALG8):c.478+3A>G
|
|
|
NM_024079.5(ALG8):c.758T>C (p.Leu253Ser)
|
rs2136902870
|
|
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)
|
rs1860433537
|
|
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser)
|
rs1565349263
|
|
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr)
|
rs782424159
|
|
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser)
|
rs2101122120
|
|
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser)
|
rs782798700
|
|
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)
|
rs782108690
|
|
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu)
|
rs2101114444
|
|
NM_024408.4(NOTCH2):c.2896G>C (p.Asp966His)
|
|
|
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr)
|
rs1417119248
|
|
NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)
|
|
|
NM_024408.4(NOTCH2):c.3302C>T (p.Pro1101Leu)
|
|
|
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
|
|
|
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys)
|
rs886044885
|
|
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val)
|
rs1649454489
|
|
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser)
|
rs886044112
|
|
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met)
|
rs1396873392
|
|
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)
|
rs774541297
|
|
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)
|
|
|
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His)
|
rs1345166838
|
|
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro)
|
rs1570660922
|
|
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser)
|
rs1649240420
|
|
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1])
|
rs764518778
|
|
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly)
|
rs1430961661
|
|
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)
|
rs748876258
|
|
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu)
|
rs1649072477
|
|
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp)
|
rs2101143543
|
|
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)
|
rs763117840
|
|
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)
|
rs1464974590
|
|
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu)
|
rs1557834076
|
|
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly)
|
rs1557834060
|
|
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys)
|
rs142614610
|
|
NM_024426.6(WT1):c.1321G>C (p.Asp441His)
|
rs2132920232
|
|
NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs)
|
rs1472145598
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
rs786204243
|
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
rs1567221497
|
|
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)
|
rs367578415
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
NM_024675.4(PALB2):c.1222T>C (p.Tyr408His)
|
rs515726064
|
|
NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe)
|
rs1966978476
|
|
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)
|
rs776294034
|
|
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)
|
rs1555461334
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
NM_024675.4(PALB2):c.1399G>A (p.Gly467Ser)
|
rs45602239
|
|
NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)
|
rs786202699
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
rs75023630
|
|
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)
|
rs869025294
|
|
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)
|
rs1555461232
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)
|
rs764023822
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)
|
rs1567218668
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
rs1567218311
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.21G>T (p.Lys7Asn)
|
rs1424944402
|
|
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)
|
rs1966858909
|
|
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)
|
rs1060502779
|
|
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)
|
rs1060502794
|
|
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg)
|
rs746117401
|
|
NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)
|
rs1967061407
|
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
rs745747228
|
|
NM_024675.4(PALB2):c.247C>A (p.His83Asn)
|
rs773732106
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
NM_024675.4(PALB2):c.2660T>G (p.Ile887Ser)
|
rs45550935
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
|
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)
|
rs1555459734
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
NM_024675.4(PALB2):c.27C>T (p.Leu9=)
|
|
|
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)
|
rs769009609
|
|
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)
|
rs1567214295
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)
|
rs1597079946
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu)
|
rs552354535
|
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
rs1567212950
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
NM_024675.4(PALB2):c.3202-13T>C
|
|
|
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro)
|
rs863224785
|
|
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)
|
rs1555458226
|
|
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)
|
rs1057523330
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)
|
rs911734555
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro)
|
rs62625284
|
|
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)
|
rs1251150895
|
|
NM_024675.4(PALB2):c.364G>A (p.Asp122Asn)
|
rs730881880
|
|
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)
|
rs2142443443
|
|
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
rs587780220
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly)
|
rs779278389
|
|
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)
|
rs1597098293
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.86_108+12dup
|
rs2142459504
|
|
NM_024675.4(PALB2):c.941A>G (p.Gln314Arg)
|
rs2142430398
|
|
NM_024675.4(PALB2):c.968C>T (p.Ala323Val)
|
rs730881882
|
|
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
|
rs2139356308
|
|
NM_025225.2(PNPLA3):c.-108T>C
|
rs2049901492
|
|
NM_025225.2(PNPLA3):c.-180C>T
|
rs1475474278
|
|
NM_025225.3(PNPLA3):c.*1076C>T
|
rs886057605
|
|
NM_025225.3(PNPLA3):c.*141T>G
|
rs886057602
|
|
NM_025225.3(PNPLA3):c.*222G>A
|
rs537933350
|
|
NM_025225.3(PNPLA3):c.*346G>A
|
rs554000765
|
|
NM_025225.3(PNPLA3):c.*812A>G
|
rs2050069264
|
|
NM_025225.3(PNPLA3):c.1112+13G>T
|
rs2050022020
|
|
NM_025225.3(PNPLA3):c.1262C>T (p.Pro421Leu)
|
rs757406991
|
|
NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg)
|
rs2076213
|
|
NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala)
|
rs1339511121
|
|
NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala)
|
rs2049971622
|
|
NM_025225.3(PNPLA3):c.64del (p.His22fs)
|
rs765529904
|
|
NM_025225.3(PNPLA3):c.697-4A>T
|
rs375286131
|
|
NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg)
|
rs2049903797
|
|
NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln)
|
rs2050001627
|
|
NM_031200.3(CCR9):c.3G>T (p.Met1Ile)
|
rs1553617019
|
|
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter)
|
rs1581415304
|
|
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
|
|
|
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
|
|
|
NM_032609.3(COX4I2):c.83-8_83-7del
|
rs528430338
|
|
NM_032634.4(PIGO):c.449G>T (p.Gly150Val)
|
rs1587176408
|
|
NM_032830.3(UTP4):c.-2-3T>C
|
rs1962709947
|
|
NM_032830.3(UTP4):c.1308C>T (p.Phe436=)
|
rs140221825
|
|
NM_032830.3(UTP4):c.418A>G (p.Asn140Asp)
|
rs1962851495
|
|
NM_032830.3(UTP4):c.632G>A (p.Ser211Asn)
|
rs1963017242
|
|
NM_032830.3(UTP4):c.754G>T (p.Val252Leu)
|
rs375128162
|
|
NM_032830.3(UTP4):c.872G>A (p.Arg291His)
|
rs760350216
|
|
NM_032974.5(CASP10):c.1427T>G (p.Phe476Cys)
|
rs1559320359
|
|
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile)
|
rs1559309649
|
|
NM_032977.4(CASP10):c.422C>A (p.Ser141Ter)
|
rs780552445
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_053025.4(MYLK):c.-236C>A
|
rs929104663
|
|
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys)
|
rs140100605
|
|
NM_053025.4(MYLK):c.1304G>A (p.Cys435Tyr)
|
rs1180342445
|
|
NM_053025.4(MYLK):c.1348G>T (p.Glu450Ter)
|
|
|
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer)
|
rs1064792964
|
|
NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter)
|
rs768134055
|
|
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)
|
rs150936840
|
|
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1])
|
rs758966808
|
|
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1])
|
rs1560093606
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3832-8G>C
|
rs202218458
|
|
NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile)
|
|
|
NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr)
|
rs2059054509
|
|
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp)
|
rs1347636672
|
|
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg)
|
rs143900788
|
|
NM_053025.4(MYLK):c.5092A>C (p.Asn1698His)
|
rs1375643348
|
|
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg)
|
rs374662467
|
|
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu)
|
rs202126043
|
|
NM_053025.4(MYLK):c.992C>T (p.Thr331Met)
|
rs371825849
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
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.1020_1043dup (p.Cys342_Glu349dup)
|
rs769621341
|
|
NM_080424.4(SP110):c.1031G>C (p.Arg344Pro)
|
rs144163010
|
|
NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)
|
rs1574675911
|
|
NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)
|
|
|
NM_080424.4(SP110):c.1054A>G (p.Ile352Val)
|
rs1014974380
|
|
NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)
|
|
|
NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr)
|
rs1559162086
|
|
NM_080424.4(SP110):c.1102C>G (p.Pro368Ala)
|
rs962546053
|
|
NM_080424.4(SP110):c.1106G>C (p.Ser369Thr)
|
rs1353393264
|
|
NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)
|
|
|
NM_080424.4(SP110):c.1129+4A>G
|
|
|
NM_080424.4(SP110):c.1130-10T>C
|
|
|
NM_080424.4(SP110):c.1130-16A>G
|
rs2148751501
|
|
NM_080424.4(SP110):c.1173G>A (p.Val391=)
|
rs886055764
|
|
NM_080424.4(SP110):c.1179T>G (p.Asp393Glu)
|
|
|
NM_080424.4(SP110):c.1195A>C (p.Lys399Gln)
|
|
|
NM_080424.4(SP110):c.1225A>G (p.Met409Val)
|
rs150627628
|
|
NM_080424.4(SP110):c.1225A>T (p.Met409Leu)
|
|
|
NM_080424.4(SP110):c.1226T>G (p.Met409Arg)
|
rs369778669
|
|
NM_080424.4(SP110):c.1227G>A (p.Met409Ile)
|
rs201972538
|
|
NM_080424.4(SP110):c.127A>G (p.Ile43Val)
|
rs886055766
|
|
NM_080424.4(SP110):c.1280-10C>G
|
rs201596009
|
|
NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)
|
|
|
NM_080424.4(SP110):c.1298A>G (p.Asp433Gly)
|
rs1157982871
|
|
NM_080424.4(SP110):c.1311C>A (p.Ser437Arg)
|
rs199802117
|
|
NM_080424.4(SP110):c.1339C>G (p.His447Asp)
|
|
|
NM_080424.4(SP110):c.1340A>G (p.His447Arg)
|
|
|
NM_080424.4(SP110):c.1349G>A (p.Gly450Glu)
|
rs200662686
|
|
NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)
|
|
|
NM_080424.4(SP110):c.1400C>A (p.Thr467Asn)
|
rs1331348371
|
|
NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)
|
|
|
NM_080424.4(SP110):c.1412C>T (p.Ala471Val)
|
rs774900609
|
|
NM_080424.4(SP110):c.1421T>G (p.Ile474Ser)
|
rs1393390517
|
|
NM_080424.4(SP110):c.1468C>T (p.Arg490Trp)
|
|
|
NM_080424.4(SP110):c.1478A>T (p.Asp493Val)
|
rs2148714312
|
|
NM_080424.4(SP110):c.148-3T>C
|
|
|
NM_080424.4(SP110):c.1502A>G (p.Glu501Gly)
|
rs2041925691
|
|
NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)
|
|
|
NM_080424.4(SP110):c.1553T>A (p.Ile518Lys)
|
rs200056752
|
|
NM_080424.4(SP110):c.1553T>C (p.Ile518Thr)
|
|
|
NM_080424.4(SP110):c.1555C>T (p.Arg519Cys)
|
rs765616523
|
|
NM_080424.4(SP110):c.1556G>A (p.Arg519His)
|
|
|
NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)
|
|
|
NM_080424.4(SP110):c.1621T>G (p.Cys541Gly)
|
rs2078487165
|
|
NM_080424.4(SP110):c.1627G>T (p.Gly543Trp)
|
|
|
NM_080424.4(SP110):c.1645T>C (p.Cys549Arg)
|
|
|
NM_080424.4(SP110):c.1650_1651delinsCT (p.Thr551Ser)
|
rs2106351365
|
|
NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)
|
|
|
NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)
|
|
|
NM_080424.4(SP110):c.1733G>A (p.Arg578Lys)
|
rs2106348583
|
|
NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)
|
|
|
NM_080424.4(SP110):c.1760A>G (p.Gln587Arg)
|
rs2106348468
|
|
NM_080424.4(SP110):c.1766A>T (p.His589Leu)
|
rs201886262
|
|
NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)
|
|
|
NM_080424.4(SP110):c.178C>A (p.Pro60Thr)
|
rs2044957058
|
|
NM_080424.4(SP110):c.1815+4A>T
|
rs978837440
|
|
NM_080424.4(SP110):c.1815+5_1815+6del
|
|
|
NM_080424.4(SP110):c.185C>G (p.Ser62Cys)
|
rs202029779
|
|
NM_080424.4(SP110):c.185C>T (p.Ser62Phe)
|
rs202029779
|
|
NM_080424.4(SP110):c.1892G>C (p.Arg631Pro)
|
rs143090622
|
|
NM_080424.4(SP110):c.1900G>C (p.Gly634Arg)
|
rs200027337
|
|
NM_080424.4(SP110):c.1991T>C (p.Met664Thr)
|
rs1302656922
|
|
NM_080424.4(SP110):c.1993C>A (p.Arg665Ser)
|
rs201864810
|
|
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)
|
rs200893271
|
|
NM_080424.4(SP110):c.2012A>G (p.His671Arg)
|
|
|
NM_080424.4(SP110):c.2014A>T (p.Lys672Ter)
|
rs201966308
|
|
NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)
|
|
|
NM_080424.4(SP110):c.2028+1G>A
|
rs2106342777
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
NM_080424.4(SP110):c.2038T>C (p.Phe680Leu)
|
rs1371302119
|
|
NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)
|
|
|
NM_080424.4(SP110):c.2059T>G (p.Leu687Val)
|
|
|
NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)
|
|
|
NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)
|
|
|
NM_080424.4(SP110):c.2079dup (p.Asp694fs)
|
rs769672517
|
|
NM_080424.4(SP110):c.2099G>A (p.Gly700Asp)
|
rs2078364090
|
|
NM_080424.4(SP110):c.209C>T (p.Thr70Ile)
|
rs2044953751
|
|
NM_080424.4(SP110):c.2114A>G (p.Asn705Ser)
|
rs147011203
|
|
NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)
|
|
|
NM_080424.4(SP110):c.2119G>T (p.Gly707Cys)
|
rs1423431073
|
|
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)
|
rs181058279
|
|
NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)
|
|
|
NM_080424.4(SP110):c.26A>G (p.Glu9Gly)
|
|
|
NM_080424.4(SP110):c.271C>A (p.Arg91Ser)
|
rs201053153
|
|
NM_080424.4(SP110):c.271C>T (p.Arg91Cys)
|
rs201053153
|
|
NM_080424.4(SP110):c.272G>A (p.Arg91His)
|
|
|
NM_080424.4(SP110):c.316+6G>A
|
rs201244482
|
|
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.362T>C (p.Leu121Pro)
|
rs2148926939
|
|
NM_080424.4(SP110):c.374C>G (p.Thr125Ser)
|
|
|
NM_080424.4(SP110):c.401A>G (p.His134Arg)
|
rs2044658221
|
|
NM_080424.4(SP110):c.404C>T (p.Thr135Ile)
|
|
|
NM_080424.4(SP110):c.470G>A (p.Ser157Asn)
|
|
|
NM_080424.4(SP110):c.470G>C (p.Ser157Thr)
|
|
|
NM_080424.4(SP110):c.473A>G (p.Glu158Gly)
|
|
|
NM_080424.4(SP110):c.500A>G (p.Asp167Gly)
|
|
|
NM_080424.4(SP110):c.513T>G (p.Ser171Arg)
|
rs529350933
|
|
NM_080424.4(SP110):c.569G>T (p.Gly190Val)
|
rs2044640933
|
|
NM_080424.4(SP110):c.583+3G>A
|
|
|
NM_080424.4(SP110):c.583+6A>G
|
rs2148925559
|
|
NM_080424.4(SP110):c.617C>A (p.Ala206Glu)
|
rs28930679
|
|
NM_080424.4(SP110):c.635A>G (p.Glu212Gly)
|
rs1047254
|
|
NM_080424.4(SP110):c.644G>T (p.Ser215Ile)
|
rs2148922803
|
|
NM_080424.4(SP110):c.646C>G (p.Leu216Val)
|
|
|
NM_080424.4(SP110):c.662T>C (p.Val221Ala)
|
|
|
NM_080424.4(SP110):c.665A>G (p.Gln222Arg)
|
|
|
NM_080424.4(SP110):c.669G>A (p.Val223=)
|
|
|
NM_080424.4(SP110):c.671C>T (p.Ala224Val)
|
|
|
NM_080424.4(SP110):c.674G>A (p.Ser225Asn)
|
rs199743367
|
|
NM_080424.4(SP110):c.68T>C (p.Ile23Thr)
|
rs2148952479
|
|
NM_080424.4(SP110):c.718G>C (p.Glu240Gln)
|
rs2044474258
|
|
NM_080424.4(SP110):c.719A>G (p.Glu240Gly)
|
|
|
NM_080424.4(SP110):c.725C>T (p.Pro242Leu)
|
rs765229595
|
|
NM_080424.4(SP110):c.728A>G (p.His243Arg)
|
|
|
NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln)
|
rs2148917098
|
|
NM_080424.4(SP110):c.802G>T (p.Val268Leu)
|
|
|
NM_080424.4(SP110):c.814C>A (p.Pro272Thr)
|
|
|
NM_080424.4(SP110):c.829+15T>C
|
rs372230531
|
|
NM_080424.4(SP110):c.82C>T (p.His28Tyr)
|
rs865950609
|
|
NM_080424.4(SP110):c.832A>G (p.Lys278Glu)
|
|
|
NM_080424.4(SP110):c.848G>C (p.Cys283Ser)
|
rs754775004
|
|
NM_080424.4(SP110):c.848G>T (p.Cys283Phe)
|
rs754775004
|
|
NM_080424.4(SP110):c.87G>C (p.Lys29Asn)
|
rs2148952318
|
|
NM_080424.4(SP110):c.880A>G (p.Lys294Glu)
|
|
|
NM_080424.4(SP110):c.8C>T (p.Thr3Ile)
|
|
|
NM_080424.4(SP110):c.911C>T (p.Ser304Phe)
|
rs2043304942
|
|
NM_080424.4(SP110):c.933G>C (p.Lys311Asn)
|
rs2148861711
|
|
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)
|
rs1567818058
|
|
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
|
|
|
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser)
|
rs41297071
|
|
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=)
|
rs2068243273
|
|
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser)
|
rs886052756
|
|
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln)
|
rs886052755
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.6314A>G (p.Tyr2105Cys)
|
rs2127666900
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138711.6(PPARG):c.832C>T (p.Arg278Cys)
|
rs1176746892
|
|
NM_138715.3(MSR1):c.217G>A (p.Ala73Thr)
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)
|
rs752337482
|
|
NM_144997.7(FLCN):c.10A>G (p.Ile4Val)
|
rs1555611575
|
|
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)
|
rs199889477
|
|
NM_144997.7(FLCN):c.1285C>G (p.His429Asp)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1300+4C>T
|
rs1207963576
|
|
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu)
|
rs772207015
|
|
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)
|
rs750104212
|
|
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)
|
rs556510460
|
|
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)
|
rs2046880742
|
|
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)
|
rs750535468
|
|
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe)
|
rs1360467783
|
|
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)
|
rs2046824022
|
|
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)
|
rs201056799
|
|
NM_144997.7(FLCN):c.1715C>A (p.Pro572His)
|
rs1567804824
|
|
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)
|
rs1048214486
|
|
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
|
rs587778365
|
|
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)
|
rs1567822604
|
|
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)
|
rs1229735191
|
|
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)
|
rs878855219
|
|
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1])
|
rs1209487287
|
|
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu)
|
rs1026067642
|
|
NM_144997.7(FLCN):c.798C>T (p.Gly266=)
|
rs2047092959
|
|
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)
|
rs779449668
|
|
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)
|
rs748031634
|
|
NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile)
|
rs1599713761
|
|
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
|
rs371430235
|
|
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)
|
|
|
NM_153006.3(NAGS):c.1378C>G (p.Leu460Val)
|
rs1272126077
|
|
NM_153758.5(IL19):c.-326A>G
|
|
|
NM_173560.4(RFX6):c.1319A>G (p.Tyr440Cys)
|
rs1018054636
|
|
NM_173560.4(RFX6):c.878A>C (p.His293Pro)
|
rs1775460105
|
|
NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)
|
|
|
NM_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_175914.5(HNF4A):c.*1089del
|
rs749515492
|
|
NM_175914.5(HNF4A):c.*1106G>A
|
rs753675648
|
|
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]
|
rs3834658
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.*1809C>G
|
rs2063876979
|
|
NM_175914.5(HNF4A):c.*1826G>A
|
rs1763003018
|
|
NM_175914.5(HNF4A):c.*2167T>G
|
rs886056687
|
|
NM_175914.5(HNF4A):c.*217C>T
|
rs1019701119
|
|
NM_175914.5(HNF4A):c.*226C>A
|
rs886056680
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
NM_175914.5(HNF4A):c.*2674_*2675del
|
rs886056691
|
|
NM_175914.5(HNF4A):c.*2676dup
|
rs886056692
|
|
NM_175914.5(HNF4A):c.*2677_*2683del
|
rs886056693
|
|
NM_175914.5(HNF4A):c.*2677dup
|
rs886056694
|
|
NM_175914.5(HNF4A):c.*2678_*2679insTT
|
rs761222838
|
|
NM_175914.5(HNF4A):c.*2678dup
|
rs761222838
|
|
NM_175914.5(HNF4A):c.*2679del
|
rs886056695
|
|
NM_175914.5(HNF4A):c.*2698_*2703dup
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2698_*2704del
|
rs886056697
|
|
NM_175914.5(HNF4A):c.*2703del
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2703dup
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2707del
|
rs886056698
|
|
NM_175914.5(HNF4A):c.*2707dup
|
rs886056699
|
|
NM_175914.5(HNF4A):c.*2761G>C
|
rs1212257046
|
|
NM_175914.5(HNF4A):c.*2777del
|
rs886056700
|
|
NM_175914.5(HNF4A):c.*2782A>C
|
rs1192263020
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
NM_175914.5(HNF4A):c.*3024C>T
|
rs886056702
|
|
NM_175914.5(HNF4A):c.*3052G>A
|
rs546761850
|
|
NM_175914.5(HNF4A):c.*3104A>C
|
rs886056703
|
|
NM_175914.5(HNF4A):c.*35C>A
|
rs1019496764
|
|
NM_175914.5(HNF4A):c.*965G>T
|
rs886056683
|
|
NM_175914.5(HNF4A):c.*987G>T
|
rs886056684
|
|
NM_175914.5(HNF4A):c.*993G>A
|
rs2063867733
|
|
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)
|
rs2063496235
|
|
NM_175914.5(HNF4A):c.1064-19C>A
|
rs202202465
|
|
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
|
|
|
NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg)
|
rs199956600
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)
|
|
|
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)
|
rs530389600
|
|
NM_175914.5(HNF4A):c.1306A>T (p.Lys436Ter)
|
|
|
NM_175914.5(HNF4A):c.209A>G (p.His70Arg)
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)
|
rs1131692187
|
|
NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)
|
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
NM_175914.5(HNF4A):c.302C>A (p.Ala101Asp)
|
|
|
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
|
|
|
NM_175914.5(HNF4A):c.337G>C (p.Asp113His)
|
|
|
NM_175914.5(HNF4A):c.337G>T (p.Asp113Tyr)
|
|
|
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile)
|
rs2146127594
|
|
NM_175914.5(HNF4A):c.407C>T (p.Ala136Val)
|
|
|
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)
|
rs765237979
|
|
NM_175914.5(HNF4A):c.426G>A (p.Gln142=)
|
|
|
NM_175914.5(HNF4A):c.426G>C (p.Gln142His)
|
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
NM_175914.5(HNF4A):c.50-4560G>T
|
rs1254732171
|
|
NM_175914.5(HNF4A):c.50-4589G>A
|
|
|
NM_175914.5(HNF4A):c.50-4630T>C
|
rs2063407237
|
|
NM_175914.5(HNF4A):c.50-4682C>T
|
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
NM_175914.5(HNF4A):c.500A>C (p.Glu167Ala)
|
|
|
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
|
|
|
NM_175914.5(HNF4A):c.535T>C (p.Trp179Arg)
|
|
|
NM_175914.5(HNF4A):c.536G>C (p.Trp179Ser)
|
|
|
NM_175914.5(HNF4A):c.539C>A (p.Ala180Asp)
|
|
|
NM_175914.5(HNF4A):c.561C>G (p.Cys187Trp)
|
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro)
|
rs1555816279
|
|
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg)
|
rs1568735272
|
|
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)
|
rs2146437968
|
|
NM_175914.5(HNF4A):c.610G>A (p.Glu204Lys)
|
rs753476712
|
|
NM_175914.5(HNF4A):c.622C>T (p.Leu208Phe)
|
|
|
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
|
|
NM_175914.5(HNF4A):c.670+5G>C
|
rs1568735505
|
|
NM_175914.5(HNF4A):c.677A>T (p.Asp226Val)
|
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
|
|
NM_175914.5(HNF4A):c.731T>C (p.Ile244Thr)
|
|
|
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)
|
rs137853334
|
|
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr)
|
rs1236613475
|
|
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp)
|
rs1568736971
|
|
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
|
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_175914.5(HNF4A):c.937G>A (p.Gly313Arg)
|
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp)
|
rs2146468795
|
|
NM_178161.3(PTF1A):c.*126_*129del
|
rs533517653
|
|
NM_178161.3(PTF1A):c.*272G>A
|
rs1840935977
|
|
NM_178161.3(PTF1A):c.*316T>C
|
rs1840936579
|
|
NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser)
|
rs1192341489
|
|
NM_178161.3(PTF1A):c.201C>T (p.Cys67=)
|
rs539214102
|
|
NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu)
|
rs1840910398
|
|
NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser)
|
rs1840910466
|
|
NM_178161.3(PTF1A):c.440C>T (p.Ala147Val)
|
rs1840912525
|
|
NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp)
|
rs1840913860
|
|
NM_178161.3(PTF1A):c.673T>G (p.Leu225Val)
|
|
|
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)
|
|
|
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)
|
rs146089816
|
|
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)
|
|
|
NM_182643.3(DLC1):c.2753G>C (p.Arg918Pro)
|
rs779524261
|
|
NM_182925.5(FLT4):c.2407-6C>G
|
rs796052107
|
|
NM_182925.5(FLT4):c.2407-7C>T
|
rs796052108
|
|
NM_182925.5(FLT4):c.2414A>C (p.His805Pro)
|
rs796052106
|
|
NM_182925.5(FLT4):c.2433C>A (p.Gly811=)
|
rs796052105
|
|
NM_182925.5(FLT4):c.2470C>A (p.Leu824Met)
|
rs796052104
|
|
NM_182925.5(FLT4):c.2496C>G (p.Ser832=)
|
rs796052103
|
|
NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser)
|
rs796052102
|
|
NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu)
|
rs796052101
|
|
NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn)
|
rs796052100
|
|
NM_182925.5(FLT4):c.2519del (p.Phe840fs)
|
rs796052099
|
|
NM_182925.5(FLT4):c.2542+12A>G
|
rs751737827
|
|
NM_182925.5(FLT4):c.2542+18del
|
rs796052098
|
|
NM_182925.5(FLT4):c.2542+20del
|
rs796052097
|
|
NM_182925.5(FLT4):c.2647+31del
|
rs796052109
|
|
NM_182925.5(FLT4):c.3002-9A>C
|
rs796052114
|
|
NM_182925.5(FLT4):c.3056del (p.Phe1019fs)
|
rs796052113
|
|
NM_182925.5(FLT4):c.3064del (p.Ala1022fs)
|
rs796052112
|
|
NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val)
|
rs56364366
|
|
NM_182925.5(FLT4):c.3072del (p.Met1025fs)
|
rs796052111
|
|
NM_182925.5(FLT4):c.3076del (p.Glu1026fs)
|
rs796052110
|
|
NM_198253.3(TERT):c.1185G>T (p.Glu395Asp)
|
rs1579596881
|
|
NM_198253.3(TERT):c.578C>T (p.Pro193Leu)
|
rs751762765
|
|
NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser)
|
rs1597258512
|
|
NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser)
|
rs1581342223
|
|
NM_201589.4(MAFA):c.121T>G (p.Phe41Val)
|
|
|
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
|
NM_207034.3(EDN3):c.*1111G>A
|
rs886056888
|
|
NM_207034.3(EDN3):c.*1123G>A
|
rs376536945
|
|
NM_207034.3(EDN3):c.*1176C>T
|
rs1990796585
|
|
NM_207034.3(EDN3):c.*1271A>G
|
rs886056889
|
|
NM_207034.3(EDN3):c.*143C>G
|
rs71321536
|
|
NM_207034.3(EDN3):c.*143C>T
|
rs71321536
|
|
NM_207034.3(EDN3):c.*144C>A
|
rs886056880
|
|
NM_207034.3(EDN3):c.*144C>T
|
rs886056880
|
|
NM_207034.3(EDN3):c.*145C>A
|
rs886056881
|
|
NM_207034.3(EDN3):c.*147C>G
|
rs576673862
|
|
NM_207034.3(EDN3):c.*147C>T
|
rs576673862
|
|
NM_207034.3(EDN3):c.*571A>G
|
rs886056882
|
|
NM_207034.3(EDN3):c.*716C>G
|
rs531531144
|
|
NM_207034.3(EDN3):c.*96G>A
|
rs886056875
|
|
NM_207034.3(EDN3):c.-115G>A
|
rs1413431743
|
|
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly)
|
rs761348961
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
|
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|
NM_207034.3(EDN3):c.623T>C (p.Leu208Ser)
|
rs1306262526
|
|
NM_207034.3(EDN3):c.689G>A (p.Arg230His)
|
rs144250756
|
|
NM_207322.3(C2CD4A):c.284A>C (p.His95Pro)
|
rs1596557030
|
|
Single allele
|
|
|
m.15923A>G
|
rs1556424691
|
|
t(X;8)(p22.13;q12.1)
|
|
|