ClinVar Miner

List of variants reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29463
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HGVS dbSNP gnomAD frequency
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
NC_000002.12:g.(?_47783234)_(47805037_?)dup
NC_000002.12:g.(?_47783234)_(47808387_?)dup
NC_000002.12:g.(?_47790917)_(47806870_?)dup
NC_000002.12:g.(?_47790917)_(47808387_?)dup
NC_000002.12:g.(?_9490157)_(9555625_?)dup
NC_000002.12:g.(?_9509959)_(9510151_?)dup
NC_000002.12:g.215349854_215435010del
NC_000002.12:g.47806205_47806210del
NC_000003.11:g.(?_37034542)_(37035260_?)dup
NC_000003.11:g.(?_37034542)_(37092154_?)dup
NC_000003.11:g.(?_37042440)_(37092150_?)dup
NC_000003.11:g.(?_37050291)_(37061964_?)dup
NC_000003.11:g.(?_37055917)_(37059096_?)dup
NC_000003.11:g.(?_37083749)_(37092144_?)dup
NC_000003.11:g.(?_37089000)_(37092154_?)dup
NC_000003.11:g.(?_37089998)_(37092144_?)dup
NC_000003.11:g.108481092_108926543del
NC_000003.12:g.(?_36993051)_(36993673_?)dup
NC_000003.12:g.(?_36993051)_(37050653_?)dup
NC_000003.12:g.(?_37047509)_(37050653_?)dup
NC_000003.12:g.138009002_138059513del
NC_000003.12:g.146056770_146083362dup
NC_000003.12:g.57429239_57506648del
NC_000004.11:g.(?_108816710)_(108955513_?)dup
NC_000004.11:g.(?_108911069)_(108955533_?)dup
NC_000004.11:g.(?_169815658)_(169819885_?)del
NC_000004.11:g.(?_41747824)_(41750627_?)dup
NC_000004.11:g.(?_55094349)_(55127589_?)dup
NC_000004.11:g.(?_55094349)_(55143669_?)dup
NC_000004.11:g.(?_55094349)_(55604723_?)dup
NC_000004.11:g.(?_55124926)_(55151663_?)dup
NC_000004.11:g.(?_55124926)_(55161449_?)dup
NC_000004.11:g.(?_55124930)_(55161445_?)dup
NC_000004.11:g.(?_55124936)_(55161473_?)dup
NC_000004.11:g.(?_55124936)_(55604723_?)dup
NC_000004.11:g.(?_55127252)_(55131226_?)del
NC_000004.11:g.(?_55131076)_(55161473_?)dup
NC_000004.11:g.(?_55133446)_(55136925_?)del
NC_000004.11:g.(?_55140998)_(55161449_?)dup
NC_000004.11:g.(?_55141008)_(55164412_?)dup
NC_000004.11:g.(?_55143535)_(55161439_?)dup
NC_000004.11:g.(?_55143545)_(55161473_?)dup
NC_000004.11:g.(?_55153587)_(55604733_?)dup
NC_000004.11:g.(?_55161282)_(55161473_?)del
NC_000004.11:g.(?_55161282)_(55161473_?)dup
NC_000004.11:g.(?_55522488)_(55604723_?)dup
NC_000004.11:g.(?_55524095)_(55606881_?)dup
NC_000004.11:g.(?_55524172)_(55524258_?)dup
NC_000004.11:g.(?_55524172)_(55604733_?)dup
NC_000004.11:g.(?_55524176)_(55604729_?)dup
NC_000004.11:g.(?_55561668)_(55604723_?)dup
NC_000004.11:g.(?_55561668)_(55604733_?)dup
NC_000004.11:g.(?_55569884)_(55604729_?)dup
NC_000004.11:g.(?_55589740)_(55604723_?)dup
NC_000004.11:g.(?_55589740)_(55604733_?)dup
NC_000004.11:g.(?_55593374)_(55604723_?)dup
NC_000004.11:g.(?_55604585)_(55604723_?)del
NC_000004.12:g.(?_168877882)_(168926395_?)dup
NC_000004.12:g.(?_168877892)_(168926385_?)dup
NC_000004.12:g.(?_54228182)_(54295306_?)dup
NC_000004.12:g.(?_54258759)_(54658091_?)dup
NC_000004.12:g.(?_54258769)_(54261422_?)del
NC_000004.12:g.(?_54270623)_(54295282_?)dup
NC_000004.12:g.(?_54274831)_(54295306_?)dup
NC_000004.12:g.(?_54280306)_(54280492_?)dup
NC_000004.12:g.(?_54656321)_(54658091_?)dup
NC_000004.12:g.(?_54731318)_(54738557_?)dup
NC_000004.12:g.158674880_158700204del
NC_000005.9:g.(?_147204204)_(147211355_?)dup
NC_000005.9:g.(?_147204224)_(147211355_?)dup
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000006.12:g.22008001_22092880del
NC_000007.13:g.(?_142456998)_(142457385_?)del
NC_000007.13:g.(?_142457336)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)dup
NC_000007.13:g.(?_142459625)_(142460927_?)dup
NC_000007.13:g.(?_142460272)_(142460871_?)del
NC_000007.13:g.(?_142460272)_(142460871_?)dup
NC_000007.13:g.(?_6013020)_(6022632_?)dup
NC_000007.13:g.(?_6013024)_(6022628_?)dup
NC_000007.13:g.(?_6013030)_(6013183_?)dup
NC_000007.13:g.(?_6013030)_(6017398_?)dup
NC_000007.13:g.(?_6013030)_(6022642_?)dup
NC_000007.13:g.(?_6017209)_(6017398_?)dup
NC_000007.13:g.(?_6018217)_(6018337_?)dup
NC_000007.13:g.(?_6018217)_(6022632_?)dup
NC_000007.13:g.(?_6022445)_(6022632_?)dup
NC_000007.13:g.(?_6026369)_(6026833_?)del
NC_000007.13:g.(?_6026380)_(6037064_?)dup
NC_000007.13:g.(?_6026380)_(6038916_?)dup
NC_000007.13:g.(?_6026380)_(6042277_?)dup
NC_000007.13:g.(?_6026380)_(6048660_?)dup
NC_000007.13:g.(?_6026384)_(6048656_?)dup
NC_000007.13:g.(?_6031594)_(6043699_?)dup
NC_000007.13:g.(?_6031594)_(6048660_?)dup
NC_000007.13:g.(?_6031594)_(6049099_?)dup
NC_000007.13:g.(?_6035155)_(6049099_?)dup
NC_000007.13:g.(?_6036937)_(6098714_?)dup
NC_000007.13:g.(?_6042074)_(6049099_?)dup
NC_000007.13:g.(?_6042078)_(6048656_?)dup
NC_000007.13:g.(?_6045513)_(6049099_?)dup
NC_000007.13:g.(?_6048556)_(6049099_?)dup
NC_000007.13:g.(?_6048618)_(6049099_?)dup
NC_000007.13:g.151797921_152258693dup
NC_000007.13:g.3627221_3759274del
NC_000007.13:g.4736454_4860123dup
NC_000007.13:g.4929022_5218030dup
NC_000007.13:g.5239584_5401976dup
NC_000007.13:g.95845896_96004178del
NC_000007.14:g.(?_142749281)_(142753040_?)del
NC_000007.14:g.(?_5973389)_(5978706_?)dup
NC_000007.14:g.(?_5977582)_(5978702_?)del
NC_000007.14:g.142749147T>G
NC_000008.10:g.95186036_95301703dup
NC_000010.10:g.(?_88514773)_(88598738_?)dup
NC_000010.10:g.(?_88514773)_(88683486_?)dup
NC_000010.10:g.(?_88598623)_(88603267_?)dup
NC_000010.10:g.(?_88598623)_(88649987_?)dup
NC_000010.10:g.(?_88598623)_(88659893_?)dup
NC_000010.10:g.(?_88598623)_(88683482_?)dup
NC_000010.10:g.(?_88598623)_(88683486_?)dup
NC_000010.10:g.(?_88603164)_(88651992_?)dup
NC_000010.10:g.(?_88635625)_(88651996_?)dup
NC_000010.10:g.(?_88635625)_(88683476_?)dup
NC_000010.10:g.(?_88659541)_(88683476_?)dup
NC_000010.10:g.(?_88659541)_(88683486_?)dup
NC_000010.10:g.(?_88676885)_(88683482_?)dup
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NC_000010.11:g.(?_86755016)_(86756919_?)dup
NC_000010.11:g.(?_86755016)_(86923719_?)dup
NC_000010.11:g.(?_86755016)_(86923725_?)dup
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86838866)_(86923719_?)dup
NC_000011.10:g.17476889C>A rs886048056
NC_000011.10:g.17477161C>A rs1052653345
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000012.11:g.128208742_128917555dup
NC_000012.11:g.80598919_80836812del
NC_000012.11:g.94767704_94880489del
NC_000012.12:g.9092896_9155947dup
NC_000014.8:g.(?_75483779)_(75516364_?)dup
NC_000014.8:g.(?_75483785)_(75516358_?)del
NC_000014.8:g.(?_75489507)_(75489731_?)del
NC_000014.8:g.(?_75497226)_(75498902_?)del
NC_000014.8:g.(?_75498761)_(75500203_?)del
NC_000015.10:g.(?_32672539)_(32679935_?)dup
NC_000015.10:g.(?_32672688)_(32731245_?)dup
NC_000015.10:g.(?_32694020)_(32731255_?)dup
NC_000015.10:g.(?_32696494)_(32718535_?)dup
NC_000015.10:g.(?_32696494)_(32731245_?)dup
NC_000015.10:g.80234873_80310800dup
NC_000015.9:g.(?_31196867)_(34112028_?)dup
NC_000015.9:g.(?_32393486)_(34030811_?)dup
NC_000015.9:g.(?_32964740)_(32988830_?)dup
NC_000015.9:g.(?_32964740)_(33002449_?)dup
NC_000015.9:g.(?_32964740)_(33004759_?)dup
NC_000015.9:g.(?_32964740)_(33023456_?)dup
NC_000015.9:g.(?_32964839)_(33004986_?)dup
NC_000015.9:g.(?_32964879)_(91358519_?)dup
NC_000015.9:g.(?_32964889)_(32976890_?)dup
NC_000015.9:g.(?_32964889)_(32988830_?)dup
NC_000015.9:g.(?_32964889)_(32994756_?)dup
NC_000015.9:g.(?_32964889)_(33004937_?)dup
NC_000015.9:g.(?_32964889)_(33009478_?)dup
NC_000015.9:g.(?_32964889)_(33010412_?)dup
NC_000015.9:g.(?_32964889)_(33010736_?)dup
NC_000015.9:g.(?_32964889)_(33012502_?)dup
NC_000015.9:g.(?_32964889)_(33878337_?)dup
NC_000015.9:g.(?_32971947)_(33023446_?)dup
NC_000015.9:g.(?_32976738)_(33023446_?)dup
NC_000015.9:g.(?_32976738)_(33023456_?)dup
NC_000015.9:g.(?_32976738)_(33023486_?)dup
NC_000015.9:g.(?_32983891)_(32988830_?)dup
NC_000015.9:g.(?_32983891)_(33023446_?)dup
NC_000015.9:g.(?_32988695)_(33004759_?)dup
NC_000015.9:g.(?_33004838)_(33004937_?)dup
NC_000015.9:g.62409198_62521004dup
NC_000016.10:g.(?_68787043)_(68833499_?)dup
NC_000016.9:g.(?_68679283)_(68857549_?)dup
NC_000016.9:g.(?_68771309)_(68772324_?)dup
NC_000016.9:g.(?_68771309)_(68867412_?)dup
NC_000016.9:g.(?_68771313)_(68772320_?)dup
NC_000016.9:g.(?_68771319)_(68867402_?)dup
NC_000016.9:g.(?_68835559)_(68867794_?)dup
NC_000016.9:g.(?_68835563)_(68867412_?)dup
NC_000016.9:g.(?_68835567)_(68867408_?)dup
NC_000016.9:g.(?_68842317)_(68867402_?)dup
NC_000016.9:g.(?_68867187)_(68867408_?)dup
NC_000018.10:g.(?_51030213)_(51030623_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)dup
NC_000018.10:g.48229615_48261302dup
NC_000018.10:g.6335543_6430945dup
NC_000018.10:g.6454094_6548625dup
NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9] rs45445694
NC_000018.9:g.(?_48556583)_(48556993_?)dup
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48603002)_(48604843_?)dup
NC_000018.9:g.(?_48603008)_(48611412_?)dup
NC_000018.9:g.65699090_66534856dup
NC_000019.9:g.(?_39205089)_(40913839_?)dup
NC_000020.10:g.(?_10579323)_(11009878_?)dup
NC_000020.10:g.(?_7812350)_(10654278_?)dup
NC_000021.8:g.(?_34638751)_(34668714_?)dup
NC_000021.8:g.(?_34668469)_(34668662_?)dup
NC_000022.10:g.(?_32439269)_(32464607_?)dup
NC_000022.10:g.(?_32439269)_(32506200_?)dup
NC_000022.10:g.(?_32477833)_(32506200_?)dup
NC_000022.10:g.(?_32500753)_(32894517_?)dup
NC_000022.10:g.21802791_22555544dup
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_48932462)_(49840657_?)dup
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)
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)
NM_001868.4(CPA1):c.531C>T (p.Gly177=)
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)
NM_001868.4(CPA1):c.548G>T (p.Trp183Leu)
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)
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)
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
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
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)
NM_002769.5(PRSS1):c.268G>C (p.Ala90Pro)
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val) rs984312649
NM_002769.5(PRSS1):c.272C>T (p.Ala91Val) rs748678217
NM_002769.5(PRSS1):c.275A>T (p.Lys92Met)
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
NM_002769.5(PRSS1):c.282C>G (p.Ile94Met)
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
NM_002769.5(PRSS1):c.283C>G (p.Arg95Gly)
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)
NM_002769.5(PRSS1):c.290C>T (p.Pro97Leu)
NM_002769.5(PRSS1):c.292C>G (p.Gln98Glu)
NM_002769.5(PRSS1):c.292_305delinsAAATACAACAGCCG (p.Gln98_Lys102delinsLysTyrAsnSerArg) rs1563261113
NM_002769.5(PRSS1):c.294A>T (p.Gln98His) rs1563261128
NM_002769.5(PRSS1):c.295T>C (p.Tyr99His) rs1798766944
NM_002769.5(PRSS1):c.297C>A (p.Tyr99Ter) rs373659879
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.298G>C (p.Asp100His) rs199507985
NM_002769.5(PRSS1):c.298G>T (p.Asp100Tyr)
NM_002769.5(PRSS1):c.2T>G (p.Met1Arg)
NM_002769.5(PRSS1):c.300C>G (p.Asp100Glu)
NM_002769.5(PRSS1):c.302G>A (p.Arg101Lys)
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)
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)

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