NM_004360.4(CDH1):c.*2047A>G
|
rs8045438
|
0.98944
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_019040.5(ELP4):c.927+4C>A
|
rs4922872
|
0.98610
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)
|
rs1873778
|
0.96449
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_004360.5(CDH1):c.48+181G>C
|
rs3743675
|
0.80468
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NC_000007.14:g.22727026C>G
|
rs1800795
|
0.70949
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_004360.5(CDH1):c.2076T>C (p.Ala692=)
|
rs1801552
|
0.70379
|
NM_153758.5(IL19):c.-149+1984T>G
|
rs1800872
|
0.69428
|
NM_000245.4(MET):c.*1428G>A
|
rs1621
|
0.63315
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_000038.6(APC):c.5034G>A (p.Gly1678=)
|
rs42427
|
0.59504
|
NM_000038.6(APC):c.5880G>A (p.Pro1960=)
|
rs465899
|
0.59308
|
NM_000038.6(APC):c.5268T>G (p.Ser1756=)
|
rs866006
|
0.59230
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115
|
0.59177
|
NM_000038.6(APC):c.1635G>A (p.Ala545=)
|
rs351771
|
0.59150
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
NM_000376.3(VDR):c.1025-49G>T
|
rs7975232
|
0.55284
|
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=)
|
rs1133683
|
0.52439
|
NM_001963.6(EGF):c.-382A>G
|
rs4444903
|
0.50533
|
NM_001166108.2(PALLD):c.1964+44318A>G
|
rs12510359
|
0.50401
|
NM_001166108.2(PALLD):c.1965-12625A>G
|
rs62333013
|
0.49745
|
NM_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992
|
0.46792
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
NM_000245.4(MET):c.-207C>G
|
rs1858830
|
0.39920
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_000245.4(MET):c.*2240G>A
|
rs6566
|
0.34157
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
NM_000245.4(MET):c.*1028A>G
|
rs41738
|
0.34071
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
NM_000245.4(MET):c.*1326A>G
|
rs41739
|
0.34010
|
NM_000376.3(VDR):c.1056T>C (p.Ile352=)
|
rs731236
|
0.33962
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_001166108.2(PALLD):c.678C>T (p.Asp226=)
|
rs7673220
|
0.29605
|
NM_001166108.2(PALLD):c.186G>A (p.Lys62=)
|
rs1806729
|
0.29323
|
NM_144991.3(TSPEAR):c.303+9076A>G
|
rs452472
|
0.27108
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
NM_004360.4(CDH1):c.-124-161C>A
|
rs16260
|
0.24474
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys)
|
rs2227983
|
0.22212
|
NM_001166108.2(PALLD):c.18C>T (p.Ser6=)
|
rs61051061
|
0.21059
|
NM_000576.3(IL1B):c.315C>T (p.Phe105=)
|
rs1143634
|
0.19486
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_004360.5(CDH1):c.*1120T>C
|
rs13689
|
0.18034
|
NM_004360.5(CDH1):c.*54C>T
|
rs1801026
|
0.17023
|
NM_000245.4(MET):c.1944A>G (p.Gln648=)
|
rs13223756
|
0.16754
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
NM_017583.6(TRIM44):c.670-27G>C
|
rs3740798
|
0.13698
|
NM_001166108.2(PALLD):c.2679A>G (p.Arg893=)
|
rs1059444
|
0.12743
|
NM_017583.6(TRIM44):c.*23A>G
|
rs61881297
|
0.12522
|
NM_002691.4(POLD1):c.2244T>C (p.Ser748=)
|
rs1274607
|
0.10634
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_004360.5(CDH1):c.*589C>T
|
rs8049282
|
0.07789
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_000245.4(MET):c.*684G>A
|
rs12540703
|
0.05662
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)
|
rs2230247
|
0.04514
|
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)
|
rs2230246
|
0.04513
|
NM_004360.5(CDH1):c.531+10G>C
|
rs33963999
|
0.03907
|
NM_004360.5(CDH1):c.2253C>T (p.Asn751=)
|
rs33964119
|
0.03869
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_002691.4(POLD1):c.1860G>A (p.Thr620=)
|
rs1726790
|
0.03590
|
NM_002691.4(POLD1):c.971-12C>T
|
rs1673044
|
0.03582
|
NM_002691.4(POLD1):c.234C>G (p.Arg78=)
|
rs2228665
|
0.03571
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_002019.4(FLT1):c.2901G>A (p.Ala967=)
|
rs56314249
|
0.03272
|
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)
|
rs1726803
|
0.03166
|
NM_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)
|
rs2230244
|
0.02764
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)
|
rs5744856
|
0.02344
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
NM_000245.4(MET):c.*216C>A
|
rs149188493
|
0.02223
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
NM_002691.4(POLD1):c.2154+13_2154+14insA
|
rs3218767
|
0.02057
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_006231.4(POLE):c.2340G>A (p.Ser780=)
|
rs5744822
|
0.02051
|
NM_004360.5(CDH1):c.*621C>T
|
rs33956791
|
0.02011
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_024529.5(CDC73):c.*1267A>G
|
rs78218016
|
0.01764
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_004360.5(CDH1):c.*410A>T
|
rs33956133
|
0.01714
|
NM_002691.4(POLD1):c.1713C>T (p.Pro571=)
|
rs2230248
|
0.01698
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_004360.5(CDH1):c.2440-143G>A
|
rs34238989
|
0.01561
|
NM_004360.5(CDH1):c.*1873G>A
|
rs35779350
|
0.01533
|
NM_004360.5(CDH1):c.1712-52G>C
|
rs34582129
|
0.01529
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_004360.5(CDH1):c.1008+47T>C
|
rs34374107
|
0.01435
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_024529.5(CDC73):c.*580A>T
|
rs191600804
|
0.01264
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_024529.5(CDC73):c.*2950A>G
|
rs144681513
|
0.01153
|
NM_024529.5(CDC73):c.*3507G>T
|
rs151216299
|
0.01140
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_000038.6(APC):c.7201C>T (p.Leu2401=)
|
rs2229994
|
0.01134
|
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)
|
rs3219440
|
0.01109
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000245.4(MET):c.-14-13C>T
|
rs36080330
|
0.00978
|
NM_002691.4(POLD1):c.1761C>T (p.Ile587=)
|
rs3218755
|
0.00976
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00974
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_016292.3(TRAP1):c.1604C>G (p.Thr535Ser)
|
rs77440336
|
0.00838
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln)
|
rs34015754
|
0.00811
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000545.8(HNF1A):c.326+20C>A
|
rs80051981
|
0.00772
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
NM_004360.4(CDH1):c.*2050T>A
|
rs181705992
|
0.00746
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_000245.4(MET):c.390C>T (p.Leu130=)
|
rs150588908
|
0.00740
|
NM_004360.5(CDH1):c.*1835T>C
|
rs13339481
|
0.00738
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_004360.5(CDH1):c.1711+47G>A
|
rs35667437
|
0.00620
|
NM_004360.5(CDH1):c.*1662G>C
|
rs33967108
|
0.00618
|
NM_004360.5(CDH1):c.*988G>A
|
rs9282653
|
0.00604
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_004360.5(CDH1):c.1137+86T>G
|
rs35160345
|
0.00568
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=)
|
rs114593924
|
0.00564
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_003502.4(AXIN1):c.2403G>A (p.Arg801=)
|
rs113073289
|
0.00535
|
NM_004360.5(CDH1):c.1321-88C>T
|
rs33934457
|
0.00519
|
NM_000245.4(MET):c.*2202G>A
|
rs14456
|
0.00515
|
NM_004360.5(CDH1):c.1712-37T>G
|
rs35831514
|
0.00513
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346
|
0.00510
|
NM_000245.4(MET):c.*1987C>T
|
rs76322625
|
0.00499
|
NM_001166108.2(PALLD):c.1965-12953C>T
|
rs528879194
|
0.00493
|
NM_000458.4(HNF1B):c.-67C>T
|
rs140699244
|
0.00491
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_024529.5(CDC73):c.*2304T>G
|
rs144363422
|
0.00424
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000245.4(MET):c.*1220G>A
|
rs139535303
|
0.00336
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
NM_004360.5(CDH1):c.833-16C>G
|
rs33984587
|
0.00332
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
|
rs17860422
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_000245.4(MET):c.*787G>A
|
rs143472935
|
0.00290
|
NM_000245.4(MET):c.*231T>G
|
rs59399612
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_000245.4(MET):c.*1010G>T
|
rs150534017
|
0.00272
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_024529.5(CDC73):c.308-16C>A
|
rs201766013
|
0.00252
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000245.4(MET):c.*87G>A
|
rs41281081
|
0.00250
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_000245.4(MET):c.3522T>C (p.His1174=)
|
rs146651797
|
0.00243
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)
|
rs201284617
|
0.00236
|
NM_000245.4(MET):c.*385G>A
|
rs181068390
|
0.00235
|
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)
|
rs104893751
|
0.00233
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=)
|
rs113676921
|
0.00218
|
NM_024529.5(CDC73):c.*2085G>C
|
rs150030810
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_004360.5(CDH1):c.-54G>C
|
rs5030874
|
0.00208
|
NM_024529.5(CDC73):c.*3419T>A
|
rs566373225
|
0.00205
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
0.00198
|
NM_004360.5(CDH1):c.687+66A>G
|
rs193267869
|
0.00197
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
NM_024529.5(CDC73):c.*518A>G
|
rs190433473
|
0.00195
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
NM_000245.4(MET):c.*201C>T
|
rs1129355
|
0.00192
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)
|
rs78201625
|
0.00179
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_000245.4(MET):c.2662C>T (p.His888Tyr)
|
rs115574135
|
0.00166
|
NM_000245.4(MET):c.*2100C>T
|
rs190739281
|
0.00165
|
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)
|
rs200735885
|
0.00161
|
NM_001166108.2(PALLD):c.1965-12636G>A
|
rs543821321
|
0.00160
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_004360.5(CDH1):c.164-45T>C
|
rs189978842
|
0.00155
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000245.4(MET):c.*1871G>A
|
rs139377965
|
0.00152
|
NM_000245.4(MET):c.*1224C>T
|
rs149713628
|
0.00150
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
NM_019040.5(ELP4):c.*4974C>T
|
rs138035131
|
0.00148
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_024529.5(CDC73):c.*1365T>C
|
rs180929933
|
0.00143
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_024529.5(CDC73):c.-95G>A
|
rs143969598
|
0.00133
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
NM_000245.4(MET):c.2584-9T>C
|
rs74994656
|
0.00119
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_024529.5(CDC73):c.*1472T>G
|
rs576716003
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_024529.5(CDC73):c.*2446C>T
|
rs572307472
|
0.00114
|
NM_001166108.2(PALLD):c.1965-12665G>C
|
rs535155432
|
0.00111
|
NM_001166108.2(PALLD):c.1965-12908G>A
|
rs758706279
|
0.00107
|
NM_001166108.2(PALLD):c.33-4G>A
|
rs113515140
|
0.00105
|
NM_000245.4(MET):c.*656G>A
|
rs531456758
|
0.00104
|
NM_001166108.2(PALLD):c.1965-12594T>G
|
rs587780760
|
0.00102
|
NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr)
|
rs142116575
|
0.00102
|
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)
|
rs114817817
|
0.00101
|
NM_001166108.2(PALLD):c.3256C>T (p.Leu1086=)
|
rs59633770
|
0.00098
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
NM_004360.5(CDH1):c.388-44G>A
|
rs368884824
|
0.00097
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_000245.4(MET):c.*602C>T
|
rs147343288
|
0.00093
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_004360.5(CDH1):c.387+27C>T
|
rs33932809
|
0.00083
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_024529.5(CDC73):c.*1132G>T
|
rs1017988008
|
0.00078
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000245.4(MET):c.*1886T>A
|
rs536185931
|
0.00076
|
NM_000245.4(MET):c.*944A>G
|
rs565768785
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_001127511.3(APC):c.-204A>G
|
rs554351451
|
0.00076
|
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
|
rs138864377
|
0.00076
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_024529.5(CDC73):c.*3266A>G
|
rs532839308
|
0.00075
|
NM_000245.4(MET):c.3549C>T (p.Gly1183=)
|
rs371165052
|
0.00074
|
NM_000245.4(MET):c.798G>A (p.Arg266=)
|
rs185301166
|
0.00073
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_024529.5(CDC73):c.*3524A>G
|
rs548190260
|
0.00071
|
NM_001166108.2(PALLD):c.2199+8G>A
|
rs200060953
|
0.00070
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
NM_004360.5(CDH1):c.*1693G>T
|
rs138279201
|
0.00069
|
NM_004360.5(CDH1):c.*746C>A
|
rs140240766
|
0.00069
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
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_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000545.8(HNF1A):c.210C>T (p.Ser70=)
|
rs146686581
|
0.00061
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
NM_000245.4(MET):c.*1636C>T
|
rs186175651
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_004360.5(CDH1):c.*424T>A
|
rs867174076
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
NM_003656.5(CAMK1):c.84-13C>T
|
rs41276495
|
0.00054
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_144997.7(FLCN):c.1269C>T (p.His423=)
|
rs41464156
|
0.00053
|
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)
|
rs368806050
|
0.00051
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_001166108.2(PALLD):c.1965-12910C>G
|
rs550499593
|
0.00046
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
NM_024529.5(CDC73):c.513-17A>C
|
rs202192473
|
0.00046
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_004360.5(CDH1):c.*346A>T
|
rs754600872
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.264+11G>A
|
rs139977567
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_000245.4(MET):c.-64G>T
|
rs866509744
|
0.00042
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
NM_024529.5(CDC73):c.*453A>C
|
rs547363180
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
0.00041
|
NM_000245.4(MET):c.3521A>G (p.His1174Arg)
|
rs372830789
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)
|
rs148159407
|
0.00041
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
NM_004360.5(CDH1):c.*16C>T
|
rs769544370
|
0.00041
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
NM_019040.5(ELP4):c.*2716T>C
|
rs549835579
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000245.4(MET):c.2715C>T (p.Ser905=)
|
rs45572835
|
0.00039
|
NM_000245.4(MET):c.3810C>T (p.Gly1270=)
|
rs200865810
|
0.00039
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
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_001166108.2(PALLD):c.2748C>T (p.Asp916=)
|
rs143544548
|
0.00039
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_024529.5(CDC73):c.*1761T>C
|
rs528066706
|
0.00036
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_020975.6(RET):c.2939+13T>C
|
rs149417158
|
0.00035
|
NM_004360.5(CDH1):c.*623A>G
|
rs142125691
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_001166108.2(PALLD):c.2976G>A (p.Thr992=)
|
rs143717202
|
0.00033
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_001166108.2(PALLD):c.1965-12924C>T
|
rs1048547337
|
0.00032
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
0.00031
|
NM_001253772.2(SYT6):c.1471G>A (p.Ala491Thr)
|
rs142164979
|
0.00030
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_000245.4(MET):c.2198C>T (p.Thr733Ile)
|
rs201271860
|
0.00029
|
NM_000245.4(MET):c.3028+11G>T
|
rs369191825
|
0.00029
|
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)
|
rs142936491
|
0.00029
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_004360.5(CDH1):c.1937-25C>A
|
rs201760019
|
0.00029
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
NM_024529.5(CDC73):c.*1787A>G
|
rs747621423
|
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_000245.4(MET):c.1191C>T (p.Cys397=)
|
rs35763409
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_001166108.2(PALLD):c.2892T>C (p.Asp964=)
|
rs140584890
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_000245.4(MET):c.1966-17T>C
|
rs555288487
|
0.00027
|
NM_001166108.2(PALLD):c.1965-12812C>A
|
rs532961259
|
0.00027
|
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)
|
rs137994522
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000245.4(MET):c.*1637G>A
|
rs534514626
|
0.00026
|
NM_000245.4(MET):c.*655C>T
|
rs563978117
|
0.00026
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_002691.4(POLD1):c.624G>A (p.Pro208=)
|
rs78996304
|
0.00025
|
NM_000245.4(MET):c.*2079G>A
|
rs757859772
|
0.00024
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_019040.5(ELP4):c.*4571A>G
|
rs1029065786
|
0.00024
|
NM_024529.5(CDC73):c.*1644C>T
|
rs764317616
|
0.00024
|
NM_024529.5(CDC73):c.-10G>T
|
rs188082584
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000245.4(MET):c.*1784T>A
|
rs554029534
|
0.00023
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_024529.5(CDC73):c.1066+13A>G
|
rs142414871
|
0.00023
|
NM_144997.7(FLCN):c.1326C>T (p.His442=)
|
rs145004158
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_001166108.2(PALLD):c.1965-10T>A
|
rs149239490
|
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_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_024529.5(CDC73):c.*3791T>C
|
rs886045739
|
0.00022
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
NM_000245.4(MET):c.3632+42C>G
|
rs376183825
|
0.00021
|
NM_000245.4(MET):c.4105T>C (p.Leu1369=)
|
rs45575438
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_004360.5(CDH1):c.*196T>G
|
rs576484193
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
NM_000245.4(MET):c.*1593G>A
|
rs764929802
|
0.00020
|
NM_000245.4(MET):c.2568T>C (p.Asn856=)
|
rs118057172
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
NM_001166108.2(PALLD):c.1965-12840C>G
|
rs587780757
|
0.00020
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
NM_019040.5(ELP4):c.*2387C>T
|
rs990066045
|
0.00020
|
NM_024529.5(CDC73):c.424-16C>T
|
rs201012067
|
0.00020
|
NM_144997.7(FLCN):c.1176+15T>C
|
rs550870270
|
0.00020
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000245.4(MET):c.3522+12G>T
|
rs200624981
|
0.00019
|
NM_000245.4(MET):c.665C>T (p.Thr222Met)
|
rs200776610
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_001166108.2(PALLD):c.2101-9G>A
|
rs368890611
|
0.00019
|
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu)
|
rs140360991
|
0.00019
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000537.4(REN):c.1216C>T (p.Arg406Cys)
|
rs547414447
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_001166108.2(PALLD):c.2472+13A>G
|
rs190608408
|
0.00018
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_024529.5(CDC73):c.*1833A>G
|
rs150894778
|
0.00018
|
NM_000245.4(MET):c.2133C>A (p.Thr711=)
|
rs747803111
|
0.00017
|
NM_000245.4(MET):c.4091C>T (p.Pro1364Leu)
|
rs752791731
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
NM_000245.4(MET):c.1201-14A>G
|
rs762306750
|
0.00016
|
NM_000245.4(MET):c.1263C>T (p.Thr421=)
|
rs45499391
|
0.00016
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
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_024529.5(CDC73):c.-143G>C
|
rs778446879
|
0.00016
|
NM_144997.7(FLCN):c.1062+7G>A
|
rs540198776
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
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_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000245.4(MET):c.1233G>A (p.Ala411=)
|
rs374081963
|
0.00014
|
NM_000245.4(MET):c.1270T>C (p.Leu424=)
|
rs372229471
|
0.00014
|
NM_000245.4(MET):c.1975A>T (p.Ile659Leu)
|
rs753958204
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_001963.6(EGF):c.47G>C (p.Ser16Thr)
|
rs200394315
|
0.00014
|
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)
|
rs552776147
|
0.00014
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_020975.6(RET):c.3006C>T (p.Ser1002=)
|
rs370970483
|
0.00014
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000179.3(MSH6):c.102C>A (p.Ala34=)
|
rs201132087
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000245.4(MET):c.2365-14G>T
|
rs769247886
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001166108.2(PALLD):c.1965-12907G>A
|
rs780516159
|
0.00013
|
NM_001166108.2(PALLD):c.1965-13016C>T
|
rs561750970
|
0.00013
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_004360.5(CDH1):c.-49G>T
|
rs564350060
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
NM_024529.5(CDC73):c.*2427T>C
|
rs372585994
|
0.00013
|
NM_024529.5(CDC73):c.*683G>A
|
rs905879297
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000245.4(MET):c.289C>G (p.Pro97Ala)
|
rs199736573
|
0.00012
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr)
|
rs182571219
|
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_006231.4(POLE):c.6274G>A (p.Gly2092Ser)
|
rs757559474
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_024529.5(CDC73):c.*1985T>A
|
rs886045726
|
0.00012
|
NM_024529.5(CDC73):c.840G>A (p.Leu280=)
|
rs10921320
|
0.00012
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000245.4(MET):c.2378G>A (p.Arg793His)
|
rs199643166
|
0.00011
|
NM_000245.4(MET):c.2548A>G (p.Ile850Val)
|
rs200524064
|
0.00011
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser)
|
rs150764613
|
0.00011
|
NM_001166108.2(PALLD):c.2723G>A (p.Arg908His)
|
rs114171764
|
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_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
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_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_019040.5(ELP4):c.*4323G>T
|
rs923696320
|
0.00011
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
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_024529.5(CDC73):c.1316+15A>C
|
rs372909512
|
0.00011
|
NM_024529.5(CDC73):c.371-4A>G
|
rs374021222
|
0.00011
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000245.4(MET):c.-66G>T
|
rs886061941
|
0.00010
|
NM_000245.4(MET):c.2110A>G (p.Asn704Asp)
|
rs373030463
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001166108.2(PALLD):c.2784T>C (p.Pro928=)
|
rs114250766
|
0.00010
|
NM_001166108.2(PALLD):c.3087T>A (p.Phe1029Leu)
|
rs189021816
|
0.00010
|
NM_001166108.2(PALLD):c.3321A>G (p.Ala1107=)
|
rs764265611
|
0.00010
|
NM_001166108.2(PALLD):c.3351C>T (p.Asp1117=)
|
rs115937217
|
0.00010
|
NM_004360.5(CDH1):c.1711+9G>A
|
rs368770384
|
0.00010
|
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)
|
rs149450874
|
0.00010
|
NM_024529.5(CDC73):c.*2420A>C
|
rs536960020
|
0.00010
|
NM_024529.5(CDC73):c.*2677G>A
|
rs192018514
|
0.00010
|
NM_024529.5(CDC73):c.-30C>T
|
rs770313192
|
0.00010
|
NM_024529.5(CDC73):c.1066+10T>C
|
rs376113810
|
0.00010
|
NM_024529.5(CDC73):c.684G>A (p.Glu228=)
|
rs368708158
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_144997.7(FLCN):c.1538+10A>C
|
rs12451312
|
0.00010
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000245.4(MET):c.*1714C>A
|
rs747850853
|
0.00009
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.1863-12T>G
|
rs35189619
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_001166108.2(PALLD):c.1965-12530C>T
|
rs753092219
|
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_001166108.2(PALLD):c.2975C>T (p.Thr992Met)
|
rs750033888
|
0.00009
|
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)
|
rs199646180
|
0.00009
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
|
rs2276331
|
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_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)
|
rs778174499
|
0.00009
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
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_024529.4(CDC73):c.-190G>C
|
rs886045709
|
0.00009
|
NM_024529.5(CDC73):c.*1499T>A
|
rs138503809
|
0.00009
|
NM_144997.7(FLCN):c.1432+8C>T
|
rs201898226
|
0.00009
|
NM_144997.7(FLCN):c.779+9C>T
|
rs373504780
|
0.00009
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
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_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000245.4(MET):c.2543T>C (p.Val848Ala)
|
rs587782205
|
0.00008
|
NM_000245.4(MET):c.280G>C (p.Asp94His)
|
rs899151863
|
0.00008
|
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln)
|
rs199763277
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001166108.2(PALLD):c.1965-12857G>A
|
rs952110792
|
0.00008
|
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys)
|
rs372708613
|
0.00008
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
NM_002691.4(POLD1):c.1686+10C>T
|
rs372652150
|
0.00008
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
NM_004360.5(CDH1):c.1314A>G (p.Thr438=)
|
rs547316616
|
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_019040.5(ELP4):c.*2845T>C
|
rs1006923180
|
0.00008
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
NM_020975.6(RET):c.1596C>T (p.Gly532=)
|
rs144460361
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_020975.6(RET):c.3156C>T (p.Leu1052=)
|
rs191769748
|
0.00008
|
NM_024529.5(CDC73):c.1154+18C>G
|
rs145348897
|
0.00008
|
NM_024529.5(CDC73):c.876A>G (p.Arg292=)
|
rs909578765
|
0.00008
|
NM_144997.7(FLCN):c.792G>A (p.Ala264=)
|
rs140500421
|
0.00008
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.3403-14A>G
|
rs941737393
|
0.00007
|
NM_000245.4(MET):c.*1878A>G
|
rs770910579
|
0.00007
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000245.4(MET):c.1989G>A (p.Ser663=)
|
rs201180585
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.345C>T (p.Asn115=)
|
rs774038166
|
0.00007
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
NM_000245.4(MET):c.960G>A (p.Ala320=)
|
rs191198682
|
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.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
NM_001166108.2(PALLD):c.1965-12569G>A
|
rs568490721
|
0.00007
|
NM_001166108.2(PALLD):c.1965-12748G>C
|
rs551131343
|
0.00007
|
NM_001166108.2(PALLD):c.1965-12817C>T
|
rs1211489449
|
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_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.1710T>C (p.Asn570=)
|
rs202115589
|
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_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_020975.6(RET):c.1182C>T (p.Asn394=)
|
rs376465385
|
0.00007
|
NM_020975.6(RET):c.1371A>T (p.Ser457=)
|
rs376464605
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.81G>A (p.Leu27=)
|
rs369519655
|
0.00007
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
NM_024529.5(CDC73):c.*2625A>G
|
rs531872328
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
NM_024529.5(CDC73):c.648T>A (p.Ala216=)
|
rs143149579
|
0.00007
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
NM_144997.7(FLCN):c.867C>T (p.Leu289=)
|
rs367562964
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
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_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000245.4(MET):c.*803T>A
|
rs1001801655
|
0.00006
|
NM_000245.4(MET):c.105G>C (p.Met35Ile)
|
rs376244358
|
0.00006
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00006
|
NM_000245.4(MET):c.22G>A (p.Ala8Thr)
|
rs758564871
|
0.00006
|
NM_000245.4(MET):c.3168T>C (p.Ser1056=)
|
rs376069508
|
0.00006
|
NM_000245.4(MET):c.3477C>T (p.Tyr1159=)
|
rs372238373
|
0.00006
|
NM_000245.4(MET):c.36C>T (p.Leu12=)
|
rs188625702
|
0.00006
|
NM_000245.4(MET):c.3811G>A (p.Val1271Met)
|
rs751186512
|
0.00006
|
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)
|
rs752669237
|
0.00006
|
NM_000245.4(MET):c.4134G>A (p.Glu1378=)
|
rs879254328
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000245.4(MET):c.900C>T (p.Leu300=)
|
rs540354779
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_001166108.2(PALLD):c.*108C>T
|
rs863224704
|
0.00006
|
NM_001166108.2(PALLD):c.1965-12705C>T
|
rs774034818
|
0.00006
|
NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg)
|
rs139375029
|
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_001368894.2(PAX6):c.*90A>C
|
rs572377074
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)
|
rs200261147
|
0.00006
|
NM_001618.4(PARP1):c.370A>G (p.Thr124Ala)
|
rs139924814
|
0.00006
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
NM_004360.5(CDH1):c.*1076T>C
|
rs541517386
|
0.00006
|
NM_004360.5(CDH1):c.*1691G>T
|
rs373181046
|
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.1416C>A (p.Thr472=)
|
rs139937234
|
0.00006
|
NM_004360.5(CDH1):c.1422C>T (p.Thr474=)
|
rs375843744
|
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.2244C>A (p.Thr748=)
|
rs1303187205
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
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_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
0.00006
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_019040.5(ELP4):c.*4441T>C
|
rs1452069622
|
0.00006
|
NM_020923.3(ZDBF2):c.5795G>A (p.Arg1932His)
|
rs763186071
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
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.2742A>G (p.Pro914=)
|
rs375963128
|
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_024529.5(CDC73):c.*1083A>T
|
rs367704451
|
0.00006
|
NM_024529.5(CDC73):c.*1599A>G
|
rs543573271
|
0.00006
|
NM_024529.5(CDC73):c.*2801A>G
|
rs999015399
|
0.00006
|
NM_024529.5(CDC73):c.*2962T>C
|
rs147904515
|
0.00006
|
NM_024529.5(CDC73):c.*948C>T
|
rs761544591
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_024529.5(CDC73):c.333C>T (p.Ser111=)
|
rs374834265
|
0.00006
|
NM_024529.5(CDC73):c.879C>T (p.Tyr293=)
|
rs199551585
|
0.00006
|
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)
|
rs753221661
|
0.00006
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
NM_144997.7(FLCN):c.396+7C>T
|
rs781155484
|
0.00006
|
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_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)
|
rs561295443
|
0.00005
|
NM_000245.4(MET):c.1392+17A>G
|
rs747447086
|
0.00005
|
NM_000245.4(MET):c.1659C>T (p.Ser553=)
|
rs377284387
|
0.00005
|
NM_000245.4(MET):c.1956C>T (p.Phe652=)
|
rs756154521
|
0.00005
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
NM_000245.4(MET):c.2674G>A (p.Val892Ile)
|
rs761243391
|
0.00005
|
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln)
|
rs45612435
|
0.00005
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
rs45483396
|
0.00005
|
NM_000245.4(MET):c.789G>A (p.Thr263=)
|
rs554190225
|
0.00005
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_001166108.2(PALLD):c.1965-13025C>T
|
rs952079408
|
0.00005
|
NM_001166108.2(PALLD):c.2645G>A (p.Arg882Gln)
|
rs780692056
|
0.00005
|
NM_001903.5(CTNNA1):c.2493G>C (p.Gln831His)
|
rs781450977
|
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_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.1476C>G (p.Thr492=)
|
rs758249079
|
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_020975.6(RET):c.73+17G>T
|
rs763327195
|
0.00005
|
NM_024529.5(CDC73):c.*1251A>G
|
rs550417983
|
0.00005
|
NM_024529.5(CDC73):c.1031-5C>T
|
rs746118697
|
0.00005
|
NM_024529.5(CDC73):c.1150C>T (p.Leu384=)
|
rs377215814
|
0.00005
|
NM_024529.5(CDC73):c.1559+7C>A
|
rs542111225
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
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_144997.7(FLCN):c.1692C>T (p.His564=)
|
rs201810397
|
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_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.3876G>A (p.Thr1292=)
|
rs377494451
|
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.6135C>T (p.Ser2045=)
|
rs187297940
|
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_000179.3(MSH6):c.2271C>T (p.Thr757=)
|
rs142172006
|
0.00004
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
NM_000245.4(MET):c.*221G>A
|
rs886061946
|
0.00004
|
NM_000245.4(MET):c.*76C>T
|
rs527496385
|
0.00004
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
0.00004
|
NM_000245.4(MET):c.1030G>A (p.Gly344Arg)
|
rs761768345
|
0.00004
|
NM_000245.4(MET):c.1038C>T (p.Phe346=)
|
rs376235685
|
0.00004
|
NM_000245.4(MET):c.1062C>T (p.Ala354=)
|
rs755166920
|
0.00004
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
NM_000245.4(MET):c.1320A>G (p.Thr440=)
|
rs763726060
|
0.00004
|
NM_000245.4(MET):c.1359T>C (p.Ala453=)
|
rs755985210
|
0.00004
|
NM_000245.4(MET):c.1374A>G (p.Ser458=)
|
rs755165691
|
0.00004
|
NM_000245.4(MET):c.1392+14G>A
|
rs529823741
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.1528-13C>A
|
rs751613983
|
0.00004
|
NM_000245.4(MET):c.1863-10T>C
|
rs758048261
|
0.00004
|
NM_000245.4(MET):c.1881T>C (p.Gly627=)
|
rs200050499
|
0.00004
|
NM_000245.4(MET):c.1984A>G (p.Ile662Val)
|
rs765244598
|
0.00004
|
NM_000245.4(MET):c.1992G>A (p.Pro664=)
|
rs373842614
|
0.00004
|
NM_000245.4(MET):c.2103-4T>C
|
rs753740913
|
0.00004
|
NM_000245.4(MET):c.2113A>G (p.Ser705Gly)
|
rs781110968
|
0.00004
|
NM_000245.4(MET):c.2342A>C (p.Glu781Ala)
|
rs771231484
|
0.00004
|
NM_000245.4(MET):c.2583+6A>G
|
rs769647929
|
0.00004
|
NM_000245.4(MET):c.2584-8C>G
|
rs370833501
|
0.00004
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.2913C>T (p.Tyr971=)
|
rs371379572
|
0.00004
|
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro)
|
rs771328219
|
0.00004
|
NM_000245.4(MET):c.341A>T (p.Asp114Val)
|
rs773659883
|
0.00004
|
NM_000245.4(MET):c.3459G>A (p.Pro1153=)
|
rs201245213
|
0.00004
|
NM_000245.4(MET):c.3489A>T (p.Gly1163=)
|
rs753101831
|
0.00004
|
NM_000245.4(MET):c.3842C>G (p.Ala1281Gly)
|
rs750337451
|
0.00004
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000245.4(MET):c.428G>A (p.Arg143Gln)
|
rs35469582
|
0.00004
|
NM_000245.4(MET):c.510C>G (p.Ser170Arg)
|
rs587778442
|
0.00004
|
NM_000245.4(MET):c.739A>G (p.Ile247Val)
|
rs749728359
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
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.713+13G>A
|
rs755961371
|
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_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
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_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001127511.3(APC):c.-167G>A
|
rs1278244063
|
0.00004
|
NM_001161630.1(KDM4E):c.1493A>G (p.Asn498Ser)
|
rs869025228
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12565G>A
|
rs368350042
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12574C>T
|
rs763225090
|
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.1965-12896C>T
|
rs1319983866
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12898C>A
|
rs1025237623
|
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.2473-4A>G
|
rs765144938
|
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.2901C>T (p.Pro967=)
|
rs533269596
|
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_001360.3(DHCR7):c.583G>A (p.Ala195Thr)
|
rs151170252
|
0.00004
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met)
|
rs145081333
|
0.00004
|
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)
|
rs757031354
|
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.1023T>C (p.Tyr341=)
|
rs587776398
|
0.00004
|
NM_004360.5(CDH1):c.1137+20G>A
|
rs34210985
|
0.00004
|
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile)
|
rs141864044
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
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.1936+8C>T
|
rs776624068
|
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.2450C>T (p.Ala817Val)
|
rs587782024
|
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.375C>A (p.Pro125=)
|
rs773044699
|
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_004360.5(CDH1):c.780C>T (p.Pro260=)
|
rs765090311
|
0.00004
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
NM_004360.5(CDH1):c.918C>T (p.Ser306=)
|
rs761516528
|
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_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_019040.5(ELP4):c.*3207T>C
|
rs1010978990
|
0.00004
|
NM_020762.4(SRGAP1):c.2225-7G>A
|
rs375559876
|
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.2124C>T (p.Ala708=)
|
rs749646777
|
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.2427C>T (p.Tyr809=)
|
rs577929869
|
0.00004
|
NM_020975.6(RET):c.2790G>A (p.Thr930=)
|
rs746599792
|
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.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.79T>C (p.Leu27=)
|
rs377160777
|
0.00004
|
NM_024529.5(CDC73):c.*1074A>T
|
rs886045718
|
0.00004
|
NM_024529.5(CDC73):c.*1092A>G
|
rs886045720
|
0.00004
|
NM_024529.5(CDC73):c.*2455C>T
|
rs886045729
|
0.00004
|
NM_024529.5(CDC73):c.1154+20A>C
|
rs567786660
|
0.00004
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
NM_024529.5(CDC73):c.762A>G (p.Gln254=)
|
rs141847473
|
0.00004
|
NM_024529.5(CDC73):c.908-5C>T
|
rs200475944
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_144997.7(FLCN):c.1068G>T (p.Leu356=)
|
rs534904034
|
0.00004
|
NM_144997.7(FLCN):c.645C>T (p.Cys215=)
|
rs772360950
|
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_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.70C>T (p.Arg24Ter)
|
rs145945630
|
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_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
NM_000245.4(MET):c.*2051C>T
|
rs886061951
|
0.00003
|
NM_000245.4(MET):c.*296G>C
|
rs1237383281
|
0.00003
|
NM_000245.4(MET):c.*397A>G
|
rs559231345
|
0.00003
|
NM_000245.4(MET):c.1235G>A (p.Arg412His)
|
rs371463233
|
0.00003
|
NM_000245.4(MET):c.1279G>A (p.Val427Ile)
|
rs376364468
|
0.00003
|
NM_000245.4(MET):c.1291A>G (p.Met431Val)
|
rs766929091
|
0.00003
|
NM_000245.4(MET):c.1408T>A (p.Ser470Thr)
|
rs1484724510
|
0.00003
|
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)
|
rs376589619
|
0.00003
|
NM_000245.4(MET):c.1510G>T (p.Val504Phe)
|
rs587780735
|
0.00003
|
NM_000245.4(MET):c.1626C>T (p.His542=)
|
rs762898756
|
0.00003
|
NM_000245.4(MET):c.1643C>T (p.Ser548Leu)
|
rs767715328
|
0.00003
|
NM_000245.4(MET):c.1701+14A>G
|
rs768638354
|
0.00003
|
NM_000245.4(MET):c.1723C>A (p.Leu575Ile)
|
rs587778445
|
0.00003
|
NM_000245.4(MET):c.1810C>G (p.Leu604Val)
|
rs201861645
|
0.00003
|
NM_000245.4(MET):c.1853C>T (p.Thr618Met)
|
rs753407699
|
0.00003
|
NM_000245.4(MET):c.1854G>A (p.Thr618=)
|
rs367764141
|
0.00003
|
NM_000245.4(MET):c.1972G>A (p.Val658Ile)
|
rs587778446
|
0.00003
|
NM_000245.4(MET):c.2055G>A (p.Gly685=)
|
rs766401668
|
0.00003
|
NM_000245.4(MET):c.2271G>A (p.Gly757=)
|
rs755816605
|
0.00003
|
NM_000245.4(MET):c.2325G>T (p.Met775Ile)
|
rs748086754
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.2658C>T (p.His886=)
|
rs748950533
|
0.00003
|
NM_000245.4(MET):c.2769A>C (p.Val923=)
|
rs371015065
|
0.00003
|
NM_000245.4(MET):c.2888-16T>C
|
rs1035141881
|
0.00003
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
rs768678989
|
0.00003
|
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)
|
rs752641437
|
0.00003
|
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr)
|
rs1177400289
|
0.00003
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
NM_000245.4(MET):c.3522+15A>G
|
rs748010112
|
0.00003
|
NM_000245.4(MET):c.3633-4G>C
|
rs1477354447
|
0.00003
|
NM_000245.4(MET):c.37G>A (p.Val13Met)
|
rs781777052
|
0.00003
|
NM_000245.4(MET):c.4086C>T (p.Val1362=)
|
rs753757242
|
0.00003
|
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)
|
rs747239403
|
0.00003
|
NM_000245.4(MET):c.4117G>C (p.Asp1373His)
|
rs398123570
|
0.00003
|
NM_000245.4(MET):c.617T>C (p.Phe206Ser)
|
rs746295363
|
0.00003
|
NM_000245.4(MET):c.639G>A (p.Ser213=)
|
rs587780738
|
0.00003
|
NM_000245.4(MET):c.666G>A (p.Thr222=)
|
rs1444020594
|
0.00003
|
NM_000245.4(MET):c.682T>C (p.Phe228Leu)
|
rs921083171
|
0.00003
|
NM_000245.4(MET):c.690G>A (p.Thr230=)
|
rs200138253
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000245.4(MET):c.788C>T (p.Thr263Met)
|
rs764052874
|
0.00003
|
NM_000245.4(MET):c.900C>G (p.Leu300=)
|
rs540354779
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
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.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
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_001166108.2(PALLD):c.1965-12635C>T
|
rs1385998898
|
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.1965-12737C>T
|
rs1060504775
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12803G>A
|
rs1477864263
|
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.1965-12944G>C
|
rs1231114395
|
0.00003
|
NM_001166108.2(PALLD):c.1965-12950C>T
|
rs1346040206
|
0.00003
|
NM_001166108.2(PALLD):c.1965-13001C>G
|
rs1239099971
|
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.3224+14A>G
|
rs766796340
|
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_001166108.2(PALLD):c.3358+9C>G
|
rs746599370
|
0.00003
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
0.00003
|
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp)
|
rs760222071
|
0.00003
|
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr)
|
rs764737760
|
0.00003
|
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His)
|
rs200022271
|
0.00003
|
NM_002691.4(POLD1):c.841-10A>G
|
rs140160345
|
0.00003
|
NM_004360.5(CDH1):c.*209C>T
|
rs35942505
|
0.00003
|
NM_004360.5(CDH1):c.*409T>A
|
rs778711236
|
0.00003
|
NM_004360.5(CDH1):c.1138-44G>A
|
rs374676556
|
0.00003
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
NM_004360.5(CDH1):c.1173C>T (p.Val391=)
|
rs148080550
|
0.00003
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
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.1371G>A (p.Thr457=)
|
rs370368644
|
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.1689C>T (p.Ala563=)
|
rs587780786
|
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.184G>A (p.Gly62Ser)
|
rs587781898
|
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.221G>A (p.Arg74Gln)
|
rs761562625
|
0.00003
|
NM_004360.5(CDH1):c.2331C>T (p.Asp777=)
|
rs114265540
|
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.2514C>T (p.Ser838=)
|
rs770974998
|
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.688-4T>C
|
rs781633588
|
0.00003
|
NM_004360.5(CDH1):c.714C>T (p.Asn238=)
|
rs780297063
|
0.00003
|
NM_004360.5(CDH1):c.753G>A (p.Thr251=)
|
rs371996897
|
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_004360.5(CDH1):c.833-3C>T
|
rs587782839
|
0.00003
|
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met)
|
rs761901627
|
0.00003
|
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala)
|
rs779863826
|
0.00003
|
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
|
rs778855567
|
0.00003
|
NM_005228.5(EGFR):c.2492G>A (p.Arg831His)
|
rs150036236
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)
|
rs119490107
|
0.00003
|
NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)
|
rs779943666
|
0.00003
|
NM_018023.5(YEATS2):c.3131C>T (p.Pro1044Leu)
|
rs376025260
|
0.00003
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3303G>A
|
rs994285025
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
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+18G>A
|
rs368088386
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2284+15C>T
|
rs768252806
|
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.2656C>T (p.Arg886Trp)
|
rs146838520
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_020975.6(RET):c.897C>T (p.Phe299=)
|
rs529153319
|
0.00003
|
NM_020975.6(RET):c.96G>A (p.Ser32=)
|
rs139821724
|
0.00003
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
NM_024529.5(CDC73):c.*2963A>G
|
rs886045731
|
0.00003
|
NM_024529.5(CDC73):c.*2982T>C
|
rs886045732
|
0.00003
|
NM_024529.5(CDC73):c.*463A>G
|
rs879039427
|
0.00003
|
NM_024529.5(CDC73):c.1031-10T>C
|
rs370349805
|
0.00003
|
NM_024529.5(CDC73):c.1067-8C>T
|
rs780485546
|
0.00003
|
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)
|
rs202209013
|
0.00003
|
NM_024529.5(CDC73):c.1417+9C>T
|
rs769784756
|
0.00003
|
NM_024529.5(CDC73):c.1418-10C>G
|
rs768713729
|
0.00003
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024529.5(CDC73):c.1559+8C>G
|
rs751279026
|
0.00003
|
NM_024529.5(CDC73):c.1581G>A (p.Ser527=)
|
rs141013612
|
0.00003
|
NM_024529.5(CDC73):c.216T>C (p.Pro72=)
|
rs560439847
|
0.00003
|
NM_024529.5(CDC73):c.305C>T (p.Ala102Val)
|
rs778134705
|
0.00003
|
NM_024529.5(CDC73):c.438G>A (p.Val146=)
|
rs755468043
|
0.00003
|
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)
|
rs145694828
|
0.00003
|
NM_024529.5(CDC73):c.729+17del
|
rs776965442
|
0.00003
|
NM_024529.5(CDC73):c.730-7A>G
|
rs745511437
|
0.00003
|
NM_024529.5(CDC73):c.908-7T>C
|
rs367790151
|
0.00003
|
NM_024529.5(CDC73):c.908-8T>C
|
rs754598606
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
rs541028076
|
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.1380C>T (p.Leu460=)
|
rs773581294
|
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.450T>C (p.Phe150=)
|
rs200672897
|
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_182925.5(FLT4):c.2104G>T (p.Ala702Ser)
|
rs746659265
|
0.00003
|
NM_000038.6(APC):c.1538T>C (p.Val513Ala)
|
rs876658167
|
0.00002
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
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.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_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)
|
rs764892330
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.2889C>T (p.Gly963=)
|
rs771726914
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.354A>G (p.Thr118=)
|
rs558590898
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.628-8C>T
|
rs767991179
|
0.00002
|
NM_000245.4(MET):c.*530G>A
|
rs185897782
|
0.00002
|
NM_000245.4(MET):c.1027T>C (p.Phe343Leu)
|
rs774022115
|
0.00002
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.1201-15C>T
|
rs1392417542
|
0.00002
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
NM_000245.4(MET):c.1343G>A (p.Gly448Glu)
|
rs750256779
|
0.00002
|
NM_000245.4(MET):c.1382G>A (p.Arg461His)
|
rs544274181
|
0.00002
|
NM_000245.4(MET):c.1398G>A (p.Val466=)
|
rs779091695
|
0.00002
|
NM_000245.4(MET):c.13G>A (p.Ala5Thr)
|
rs765444467
|
0.00002
|
NM_000245.4(MET):c.1532C>T (p.Thr511Met)
|
rs371124109
|
0.00002
|
NM_000245.4(MET):c.1533G>A (p.Thr511=)
|
rs866306366
|
0.00002
|
NM_000245.4(MET):c.1617C>T (p.Gly539=)
|
rs776490266
|
0.00002
|
NM_000245.4(MET):c.1636G>A (p.Val546Met)
|
rs774462373
|
0.00002
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
NM_000245.4(MET):c.1749A>G (p.Ile583Met)
|
rs776805376
|
0.00002
|
NM_000245.4(MET):c.1766G>T (p.Gly589Val)
|
rs943753621
|
0.00002
|
NM_000245.4(MET):c.1906A>G (p.Met636Val)
|
rs761183186
|
0.00002
|
NM_000245.4(MET):c.1965+14T>C
|
rs543293293
|
0.00002
|
NM_000245.4(MET):c.2102+12T>G
|
rs199685502
|
0.00002
|
NM_000245.4(MET):c.2215C>T (p.Arg739Cys)
|
rs45587940
|
0.00002
|
NM_000245.4(MET):c.2216G>A (p.Arg739His)
|
rs45553236
|
0.00002
|
NM_000245.4(MET):c.2264+12C>T
|
rs1220756470
|
0.00002
|
NM_000245.4(MET):c.2319G>A (p.Pro773=)
|
rs141733128
|
0.00002
|
NM_000245.4(MET):c.2326G>C (p.Val776Leu)
|
rs771976817
|
0.00002
|
NM_000245.4(MET):c.232C>T (p.Leu78Phe)
|
rs766815155
|
0.00002
|
NM_000245.4(MET):c.2344G>A (p.Ala782Thr)
|
rs1262601648
|
0.00002
|
NM_000245.4(MET):c.2373A>G (p.Gln791=)
|
rs760294359
|
0.00002
|
NM_000245.4(MET):c.2377C>T (p.Arg793Cys)
|
rs45440991
|
0.00002
|
NM_000245.4(MET):c.2437C>A (p.Leu813Ile)
|
rs745345346
|
0.00002
|
NM_000245.4(MET):c.2455G>A (p.Ala819Thr)
|
rs786203672
|
0.00002
|
NM_000245.4(MET):c.2562T>C (p.Asn854=)
|
rs1060504946
|
0.00002
|
NM_000245.4(MET):c.2585G>C (p.Gly862Ala)
|
rs1394626435
|
0.00002
|
NM_000245.4(MET):c.2702T>C (p.Leu901Pro)
|
rs755194593
|
0.00002
|
NM_000245.4(MET):c.2723A>G (p.Asn908Ser)
|
rs1478309975
|
0.00002
|
NM_000245.4(MET):c.2731-8A>T
|
rs538856434
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
NM_000245.4(MET):c.2787G>C (p.Gln929His)
|
rs908653562
|
0.00002
|
NM_000245.4(MET):c.3034T>C (p.Phe1012Leu)
|
rs376243090
|
0.00002
|
NM_000245.4(MET):c.3054C>T (p.Asn1018=)
|
rs369148519
|
0.00002
|
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys)
|
rs45628136
|
0.00002
|
NM_000245.4(MET):c.3259+18G>C
|
rs746091644
|
0.00002
|
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly)
|
rs780431412
|
0.00002
|
NM_000245.4(MET):c.3355G>A (p.Gly1119Arg)
|
rs1191752014
|
0.00002
|
NM_000245.4(MET):c.3378C>T (p.Thr1126=)
|
rs201111132
|
0.00002
|
NM_000245.4(MET):c.3451G>A (p.Gly1151Arg)
|
rs534974144
|
0.00002
|
NM_000245.4(MET):c.3474A>G (p.Pro1158=)
|
rs200659843
|
0.00002
|
NM_000245.4(MET):c.34C>T (p.Leu12Phe)
|
rs764455004
|
0.00002
|
NM_000245.4(MET):c.3522+14C>T
|
rs1353133879
|
0.00002
|
NM_000245.4(MET):c.3702C>T (p.Tyr1234=)
|
rs201747580
|
0.00002
|
NM_000245.4(MET):c.3705T>C (p.Tyr1235=)
|
rs754467674
|
0.00002
|
NM_000245.4(MET):c.3880G>A (p.Val1294Ile)
|
rs1263785859
|
0.00002
|
NM_000245.4(MET):c.4011A>G (p.Ile1337Met)
|
rs376418811
|
0.00002
|
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp)
|
rs374383028
|
0.00002
|
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr)
|
rs761522694
|
0.00002
|
NM_000245.4(MET):c.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
NM_000245.4(MET):c.4127A>C (p.Asp1376Ala)
|
rs760339018
|
0.00002
|
NM_000245.4(MET):c.4140C>T (p.Asp1380=)
|
rs370368651
|
0.00002
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
NM_000245.4(MET):c.535G>A (p.Ala179Thr)
|
rs753697730
|
0.00002
|
NM_000245.4(MET):c.623A>G (p.Asp208Gly)
|
rs587782086
|
0.00002
|
NM_000245.4(MET):c.743A>T (p.Lys248Met)
|
rs769181927
|
0.00002
|
NM_000245.4(MET):c.781T>C (p.Phe261Leu)
|
rs765061513
|
0.00002
|
NM_000245.4(MET):c.852A>G (p.Ile284Met)
|
rs759227622
|
0.00002
|
NM_000245.4(MET):c.86C>T (p.Ala29Val)
|
rs775439897
|
0.00002
|
NM_000245.4(MET):c.939G>A (p.Val313=)
|
rs375716972
|
0.00002
|
NM_000251.3(MSH2):c.1014A>C (p.Gly338=)
|
rs774083607
|
0.00002
|
NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)
|
rs1301023135
|
0.00002
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
NM_000264.5(PTCH1):c.68C>T (p.Ala23Val)
|
rs761204245
|
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_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.267C>A (p.Leu89=)
|
rs755794553
|
0.00002
|
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)
|
rs1236604706
|
0.00002
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001166108.2(PALLD):c.*109G>A
|
rs1002500543
|
0.00002
|
NM_001166108.2(PALLD):c.*124C>T
|
rs369747738
|
0.00002
|
NM_001166108.2(PALLD):c.*153A>G
|
rs535118290
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12514G>A
|
rs1355423115
|
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.1965-12566C>T
|
rs864622158
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12587C>T
|
rs1460784357
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12592C>T
|
rs1400689367
|
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.1965-12800C>T
|
rs863224383
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12870T>C
|
rs1474793366
|
0.00002
|
NM_001166108.2(PALLD):c.1965-12875G>A
|
rs587780755
|
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.1965-12962C>T
|
rs987749164
|
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.2101-10C>T
|
rs757885388
|
0.00002
|
NM_001166108.2(PALLD):c.2130T>C (p.Arg710=)
|
rs749041581
|
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.2850+15T>C
|
rs977479187
|
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.2961C>T (p.Ile987=)
|
rs1484758238
|
0.00002
|
NM_001166108.2(PALLD):c.2988C>T (p.Ala996=)
|
rs748161189
|
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.3243C>T (p.His1081=)
|
rs779615947
|
0.00002
|
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=)
|
rs757791701
|
0.00002
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
NM_002253.4(KDR):c.3405-4C>T
|
rs370501217
|
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_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.1009-16G>A
|
rs1057521282
|
0.00002
|
NM_004360.5(CDH1):c.1017T>C (p.Pro339=)
|
rs746639322
|
0.00002
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
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.1566-15C>A
|
rs1064794178
|
0.00002
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
NM_004360.5(CDH1):c.164-17T>C
|
rs916075301
|
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.1824G>A (p.Lys608=)
|
rs373987896
|
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.1977G>A (p.Glu659=)
|
rs368243190
|
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.2103C>T (p.Val701=)
|
rs730881656
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
NM_004360.5(CDH1):c.2157T>G (p.Ala719=)
|
rs762224244
|
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.2346G>A (p.Val782=)
|
rs770269419
|
0.00002
|
NM_004360.5(CDH1):c.2355C>T (p.Asn785=)
|
rs375988871
|
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.2439+14G>A
|
rs752439219
|
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.378G>A (p.Pro126=)
|
rs786201504
|
0.00002
|
NM_004360.5(CDH1):c.388-14T>G
|
rs769151434
|
0.00002
|
NM_004360.5(CDH1):c.388-4T>C
|
rs750722169
|
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.510A>G (p.Pro170=)
|
rs774962542
|
0.00002
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
NM_004360.5(CDH1):c.636A>G (p.Gly212=)
|
rs758991562
|
0.00002
|
NM_004360.5(CDH1):c.688-14C>T
|
rs189969617
|
0.00002
|
NM_004360.5(CDH1):c.801T>C (p.Phe267=)
|
rs763703927
|
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.900C>T (p.Ile300=)
|
rs775452740
|
0.00002
|
NM_004360.5(CDH1):c.906C>T (p.Tyr302=)
|
rs370197479
|
0.00002
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg)
|
rs397517102
|
0.00002
|
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys)
|
rs1377657524
|
0.00002
|
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu)
|
rs772686048
|
0.00002
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
NM_006231.4(POLE):c.5481G>A (p.Ser1827=)
|
rs775867327
|
0.00002
|
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)
|
rs771980261
|
0.00002
|
NM_006521.6(TFE3):c.1694G>A (p.Arg565His)
|
rs782782345
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
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.144G>A (p.Thr48=)
|
rs759872307
|
0.00002
|
NM_020975.6(RET):c.2358T>C (p.His786=)
|
rs758715544
|
0.00002
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
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.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.3200C>T (p.Pro1067Leu)
|
rs760625882
|
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.723C>T (p.Ala241=)
|
rs544252468
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.825C>T (p.Gly275=)
|
rs150797149
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_024529.5(CDC73):c.*1789G>A
|
rs1323646186
|
0.00002
|
NM_024529.5(CDC73):c.*3342G>A
|
rs1174982740
|
0.00002
|
NM_024529.5(CDC73):c.1031-20A>G
|
rs1558312757
|
0.00002
|
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)
|
rs971586985
|
0.00002
|
NM_024529.5(CDC73):c.1179G>A (p.Lys393=)
|
rs200738107
|
0.00002
|
NM_024529.5(CDC73):c.1511G>A (p.Arg504His)
|
rs759222387
|
0.00002
|
NM_024529.5(CDC73):c.1564A>G (p.Met522Val)
|
rs751152405
|
0.00002
|
NM_024529.5(CDC73):c.201G>A (p.Val67=)
|
rs752298916
|
0.00002
|
NM_024529.5(CDC73):c.237+7A>G
|
rs1675543660
|
0.00002
|
NM_024529.5(CDC73):c.27A>G (p.Arg9=)
|
rs763452834
|
0.00002
|
NM_024529.5(CDC73):c.306G>A (p.Ala102=)
|
rs141131532
|
0.00002
|
NM_024529.5(CDC73):c.371-7T>C
|
rs757680253
|
0.00002
|
NM_024529.5(CDC73):c.424-11G>C
|
rs1188223298
|
0.00002
|
NM_024529.5(CDC73):c.432G>A (p.Glu144=)
|
rs934976346
|
0.00002
|
NM_024529.5(CDC73):c.450A>G (p.Lys150=)
|
rs779144943
|
0.00002
|
NM_024529.5(CDC73):c.729+10A>G
|
rs757532746
|
0.00002
|
NM_024529.5(CDC73):c.789T>G (p.Arg263=)
|
rs761846181
|
0.00002
|
NM_024529.5(CDC73):c.829-13A>C
|
rs760909144
|
0.00002
|
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
NM_024529.5(CDC73):c.93C>T (p.Ser31=)
|
rs550111539
|
0.00002
|
NM_024529.5(CDC73):c.973-11T>C
|
rs755543878
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_138711.6(PPARG):c.857G>A (p.Arg286His)
|
rs28936407
|
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_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
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.3149del (p.Ala1050fs)
|
rs730882135
|
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.5901C>T (p.Ser1967=)
|
rs1561603572
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
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.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.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6199-6G>A
|
rs1555114529
|
0.00001
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)
|
rs369232922
|
0.00001
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)
|
rs587779205
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.2391C>T (p.Asp797=)
|
rs754870044
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.2526T>G (p.Ala842=)
|
rs772394197
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
NM_000179.3(MSH6):c.3172+14C>T
|
rs762990595
|
0.00001
|
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)
|
rs371568610
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.668A>G (p.Asn223Ser)
|
rs587779316
|
0.00001
|
NM_000245.4(MET):c.*1477C>T
|
rs750893461
|
0.00001
|
NM_000245.4(MET):c.*41A>G
|
rs771518812
|
0.00001
|
NM_000245.4(MET):c.-7T>C
|
rs863224376
|
0.00001
|
NM_000245.4(MET):c.1029C>G (p.Phe343Leu)
|
rs56340719
|
0.00001
|
NM_000245.4(MET):c.102G>C (p.Glu34Asp)
|
rs1296330997
|
0.00001
|
NM_000245.4(MET):c.1033G>T (p.Val345Leu)
|
rs1232896056
|
0.00001
|
NM_000245.4(MET):c.1068A>G (p.Pro356=)
|
rs934426317
|
0.00001
|
NM_000245.4(MET):c.107A>G (p.Asn36Ser)
|
rs1282716584
|
0.00001
|
NM_000245.4(MET):c.1099A>G (p.Ile367Val)
|
rs774146015
|
0.00001
|
NM_000245.4(MET):c.109G>T (p.Val37Leu)
|
rs863224692
|
0.00001
|
NM_000245.4(MET):c.1101C>A (p.Ile367=)
|
rs747940150
|
0.00001
|
NM_000245.4(MET):c.1113C>T (p.Asn371=)
|
rs772014416
|
0.00001
|
NM_000245.4(MET):c.1137C>T (p.Asn379=)
|
rs1060504942
|
0.00001
|
NM_000245.4(MET):c.1159C>T (p.Gln387Ter)
|
rs757846126
|
0.00001
|
NM_000245.4(MET):c.1161G>A (p.Gln387=)
|
rs1476181476
|
0.00001
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
NM_000245.4(MET):c.1173A>G (p.Gly391=)
|
rs753309112
|
0.00001
|
NM_000245.4(MET):c.1178A>G (p.Asn393Ser)
|
rs754635450
|
0.00001
|
NM_000245.4(MET):c.1183G>A (p.Glu395Lys)
|
rs778469367
|
0.00001
|
NM_000245.4(MET):c.1185G>A (p.Glu395=)
|
rs1369230650
|
0.00001
|
NM_000245.4(MET):c.1200+8A>G
|
rs879254331
|
0.00001
|
NM_000245.4(MET):c.1218A>T (p.Ser406=)
|
rs1358705636
|
0.00001
|
NM_000245.4(MET):c.1221A>G (p.Ser407=)
|
rs200003116
|
0.00001
|
NM_000245.4(MET):c.1222G>A (p.Gly408Ser)
|
rs1289461217
|
0.00001
|
NM_000245.4(MET):c.1224C>G (p.Gly408=)
|
rs965135961
|
0.00001
|
NM_000245.4(MET):c.1232C>T (p.Ala411Val)
|
rs201154533
|
0.00001
|
NM_000245.4(MET):c.1237C>T (p.Arg413Cys)
|
rs201980687
|
0.00001
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
NM_000245.4(MET):c.1241A>C (p.Asp414Ala)
|
rs1554388638
|
0.00001
|
NM_000245.4(MET):c.1242T>A (p.Asp414Glu)
|
rs1230741853
|
0.00001
|
NM_000245.4(MET):c.1266A>G (p.Thr422=)
|
rs1407970053
|
0.00001
|
NM_000245.4(MET):c.1277G>A (p.Arg426His)
|
rs986139438
|
0.00001
|
NM_000245.4(MET):c.1303A>G (p.Ser435Gly)
|
rs1186230260
|
0.00001
|
NM_000245.4(MET):c.1305C>T (p.Ser435=)
|
rs762520351
|
0.00001
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000245.4(MET):c.1365T>G (p.Leu455=)
|
rs369639118
|
0.00001
|
NM_000245.4(MET):c.1371A>G (p.Thr457=)
|
rs201632219
|
0.00001
|
NM_000245.4(MET):c.1392+12C>T
|
rs201184739
|
0.00001
|
NM_000245.4(MET):c.1392+5G>C
|
rs386833405
|
0.00001
|
NM_000245.4(MET):c.1393-6G>A
|
rs202194405
|
0.00001
|
NM_000245.4(MET):c.1393-9G>A
|
rs1474428051
|
0.00001
|
NM_000245.4(MET):c.1406G>A (p.Arg469Gln)
|
rs752842662
|
0.00001
|
NM_000245.4(MET):c.141C>T (p.Thr47=)
|
rs864622222
|
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.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.146A>G (p.Glu49Gly)
|
rs370499060
|
0.00001
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
NM_000245.4(MET):c.147A>G (p.Glu49=)
|
rs398123567
|
0.00001
|
NM_000245.4(MET):c.1490A>G (p.Asn497Ser)
|
rs753713629
|
0.00001
|
NM_000245.4(MET):c.1497T>C (p.Asn499=)
|
rs199922867
|
0.00001
|
NM_000245.4(MET):c.150A>G (p.Thr50=)
|
rs199898841
|
0.00001
|
NM_000245.4(MET):c.1527+13C>T
|
rs751742182
|
0.00001
|
NM_000245.4(MET):c.1527+6C>T
|
rs1793387165
|
0.00001
|
NM_000245.4(MET):c.1528-13C>T
|
rs751613983
|
0.00001
|
NM_000245.4(MET):c.1528-9T>C
|
rs767768257
|
0.00001
|
NM_000245.4(MET):c.154A>G (p.Ile52Val)
|
rs777336138
|
0.00001
|
NM_000245.4(MET):c.1552T>A (p.Leu518Met)
|
rs780293990
|
0.00001
|
NM_000245.4(MET):c.1562G>A (p.Arg521Lys)
|
rs1404664878
|
0.00001
|
NM_000245.4(MET):c.1572G>A (p.Gln524=)
|
rs201878238
|
0.00001
|
NM_000245.4(MET):c.1584A>G (p.Gln528=)
|
rs55755322
|
0.00001
|
NM_000245.4(MET):c.1596C>T (p.Ala532=)
|
rs746546046
|
0.00001
|
NM_000245.4(MET):c.1604T>C (p.Phe535Ser)
|
rs1402713307
|
0.00001
|
NM_000245.4(MET):c.162T>C (p.Asn54=)
|
rs1791464380
|
0.00001
|
NM_000245.4(MET):c.1635T>C (p.Cys545=)
|
rs1465559829
|
0.00001
|
NM_000245.4(MET):c.1639C>A (p.Arg547=)
|
rs1047795344
|
0.00001
|
NM_000245.4(MET):c.1644G>A (p.Ser548=)
|
rs750584257
|
0.00001
|
NM_000245.4(MET):c.1660G>A (p.Gly554Arg)
|
rs200218511
|
0.00001
|
NM_000245.4(MET):c.1662G>A (p.Gly554=)
|
rs779328011
|
0.00001
|
NM_000245.4(MET):c.1663A>G (p.Thr555Ala)
|
rs370883654
|
0.00001
|
NM_000245.4(MET):c.1677G>T (p.Gln559His)
|
rs1290346524
|
0.00001
|
NM_000245.4(MET):c.1693A>G (p.Ile565Val)
|
rs745479104
|
0.00001
|
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys)
|
rs1445578353
|
0.00001
|
NM_000245.4(MET):c.1699A>G (p.Lys567Glu)
|
rs769592729
|
0.00001
|
NM_000245.4(MET):c.1701+7A>T
|
rs749081367
|
0.00001
|
NM_000245.4(MET):c.1702-20G>A
|
rs201975734
|
0.00001
|
NM_000245.4(MET):c.1702-3T>C
|
rs754686930
|
0.00001
|
NM_000245.4(MET):c.1706T>C (p.Phe569Ser)
|
rs778626291
|
0.00001
|
NM_000245.4(MET):c.1719A>G (p.Ala573=)
|
rs199776656
|
0.00001
|
NM_000245.4(MET):c.1739G>A (p.Arg580Lys)
|
rs201975130
|
0.00001
|
NM_000245.4(MET):c.173A>G (p.His58Arg)
|
rs374578653
|
0.00001
|
NM_000245.4(MET):c.1772G>A (p.Arg591Gln)
|
rs775965879
|
0.00001
|
NM_000245.4(MET):c.1786T>A (p.Phe596Ile)
|
rs879254332
|
0.00001
|
NM_000245.4(MET):c.180T>A (p.His60Gln)
|
rs745740862
|
0.00001
|
NM_000245.4(MET):c.1812C>T (p.Leu604=)
|
rs1412870024
|
0.00001
|
NM_000245.4(MET):c.1839T>G (p.Thr613=)
|
rs373586966
|
0.00001
|
NM_000245.4(MET):c.1858A>G (p.Asn620Asp)
|
rs372116735
|
0.00001
|
NM_000245.4(MET):c.1862+19T>C
|
rs752484484
|
0.00001
|
NM_000245.4(MET):c.1862+7A>G
|
rs1305399003
|
0.00001
|
NM_000245.4(MET):c.1862+8T>G
|
rs1366709635
|
0.00001
|
NM_000245.4(MET):c.1863-3C>T
|
rs1160304097
|
0.00001
|
NM_000245.4(MET):c.1863-6T>C
|
rs1168220004
|
0.00001
|
NM_000245.4(MET):c.1887C>T (p.Ala629=)
|
rs1191956704
|
0.00001
|
NM_000245.4(MET):c.1898A>G (p.His633Arg)
|
rs45586239
|
0.00001
|
NM_000245.4(MET):c.1902C>T (p.Phe634=)
|
rs772450441
|
0.00001
|
NM_000245.4(MET):c.1904A>G (p.Asn635Ser)
|
rs773826297
|
0.00001
|
NM_000245.4(MET):c.1907T>A (p.Met636Lys)
|
rs775011117
|
0.00001
|
NM_000245.4(MET):c.1937C>A (p.Thr646Lys)
|
rs751307227
|
0.00001
|
NM_000245.4(MET):c.1966-9C>T
|
rs750268644
|
0.00001
|
NM_000245.4(MET):c.196G>T (p.Ala66Ser)
|
rs770341307
|
0.00001
|
NM_000245.4(MET):c.1986T>G (p.Ile662Met)
|
rs1408351682
|
0.00001
|
NM_000245.4(MET):c.1998C>T (p.Tyr666=)
|
rs566540058
|
0.00001
|
NM_000245.4(MET):c.199A>G (p.Thr67Ala)
|
rs202047059
|
0.00001
|
NM_000245.4(MET):c.2046A>G (p.Leu682=)
|
rs760609715
|
0.00001
|
NM_000245.4(MET):c.2073A>G (p.Ser691=)
|
rs765318603
|
0.00001
|
NM_000245.4(MET):c.2076T>G (p.Ile692Met)
|
rs752740791
|
0.00001
|
NM_000245.4(MET):c.2097A>G (p.Leu699=)
|
rs199585804
|
0.00001
|
NM_000245.4(MET):c.2102+6G>A
|
rs757561412
|
0.00001
|
NM_000245.4(MET):c.2102+7T>C
|
rs1584941903
|
0.00001
|
NM_000245.4(MET):c.2102+9A>T
|
rs201495740
|
0.00001
|
NM_000245.4(MET):c.2103-15A>T
|
rs1471890312
|
0.00001
|
NM_000245.4(MET):c.2103-7T>G
|
rs953588907
|
0.00001
|
NM_000245.4(MET):c.2118T>C (p.Ile706=)
|
rs958023403
|
0.00001
|
NM_000245.4(MET):c.2124A>G (p.Glu708=)
|
rs769757694
|
0.00001
|
NM_000245.4(MET):c.2128T>C (p.Tyr710His)
|
rs1794273981
|
0.00001
|
NM_000245.4(MET):c.2130T>C (p.Tyr710=)
|
rs775235138
|
0.00001
|
NM_000245.4(MET):c.2136A>G (p.Pro712=)
|
rs774439479
|
0.00001
|
NM_000245.4(MET):c.2152A>C (p.Thr718Pro)
|
rs1794275099
|
0.00001
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
NM_000245.4(MET):c.2191C>A (p.Arg731=)
|
rs377336878
|
0.00001
|
NM_000245.4(MET):c.2192G>A (p.Arg731Gln)
|
rs45446492
|
0.00001
|
NM_000245.4(MET):c.2196G>A (p.Glu732=)
|
rs1376208948
|
0.00001
|
NM_000245.4(MET):c.2260A>G (p.Ile754Val)
|
rs1060503539
|
0.00001
|
NM_000245.4(MET):c.2264+5G>A
|
rs745547523
|
0.00001
|
NM_000245.4(MET):c.2265-23A>G
|
rs750004615
|
0.00001
|
NM_000245.4(MET):c.2265-26G>A
|
rs552953455
|
0.00001
|
NM_000245.4(MET):c.2265-71G>T
|
rs1794306386
|
0.00001
|
NM_000245.4(MET):c.2278A>G (p.Ile760Val)
|
rs786202191
|
0.00001
|
NM_000245.4(MET):c.2303A>G (p.Asn768Ser)
|
rs749126070
|
0.00001
|
NM_000245.4(MET):c.230A>C (p.Asp77Ala)
|
rs761221409
|
0.00001
|
NM_000245.4(MET):c.2333A>C (p.Asn778Thr)
|
rs1205392044
|
0.00001
|
NM_000245.4(MET):c.2339A>G (p.His780Arg)
|
rs375523121
|
0.00001
|
NM_000245.4(MET):c.2357T>C (p.Phe786Ser)
|
rs1794313226
|
0.00001
|
NM_000245.4(MET):c.2362G>A (p.Val788Met)
|
rs1489302008
|
0.00001
|
NM_000245.4(MET):c.2364+17A>G
|
rs1169406106
|
0.00001
|
NM_000245.4(MET):c.2364+19G>T
|
rs765711111
|
0.00001
|
NM_000245.4(MET):c.2365-11T>C
|
rs1367439751
|
0.00001
|
NM_000245.4(MET):c.2365-12G>A
|
rs986494432
|
0.00001
|
NM_000245.4(MET):c.2365-16T>C
|
rs763349755
|
0.00001
|
NM_000245.4(MET):c.2370T>C (p.Cys790=)
|
rs942322578
|
0.00001
|
NM_000245.4(MET):c.2381C>G (p.Ser794Cys)
|
rs371939364
|
0.00001
|
NM_000245.4(MET):c.2393T>G (p.Ile798Arg)
|
rs764960693
|
0.00001
|
NM_000245.4(MET):c.2414C>T (p.Ser805Phe)
|
rs1410859976
|
0.00001
|
NM_000245.4(MET):c.241G>T (p.Val81Phe)
|
rs757883355
|
0.00001
|
NM_000245.4(MET):c.2435A>C (p.Gln812Pro)
|
rs777833095
|
0.00001
|
NM_000245.4(MET):c.2439C>T (p.Leu813=)
|
rs757296777
|
0.00001
|
NM_000245.4(MET):c.2440C>A (p.Pro814Thr)
|
rs1052270861
|
0.00001
|
NM_000245.4(MET):c.2441C>T (p.Pro814Leu)
|
rs781452657
|
0.00001
|
NM_000245.4(MET):c.2466G>A (p.Met822Ile)
|
rs780538636
|
0.00001
|
NM_000245.4(MET):c.2471A>G (p.Asp824Gly)
|
rs1446482547
|
0.00001
|
NM_000245.4(MET):c.2493T>G (p.Phe831Leu)
|
rs749730267
|
0.00001
|
NM_000245.4(MET):c.2496T>C (p.Asp832=)
|
rs769035394
|
0.00001
|
NM_000245.4(MET):c.249G>C (p.Glu83Asp)
|
rs751158831
|
0.00001
|
NM_000245.4(MET):c.2501T>C (p.Ile834Thr)
|
rs1215872095
|
0.00001
|
NM_000245.4(MET):c.2527C>G (p.Pro843Ala)
|
rs905891313
|
0.00001
|
NM_000245.4(MET):c.2528C>G (p.Pro843Arg)
|
rs762228405
|
0.00001
|
NM_000245.4(MET):c.2547G>C (p.Met849Ile)
|
rs747989932
|
0.00001
|
NM_000245.4(MET):c.2554A>G (p.Met852Val)
|
rs762863861
|
0.00001
|
NM_000245.4(MET):c.255G>A (p.Lys85=)
|
rs1327946446
|
0.00001
|
NM_000245.4(MET):c.2583+11C>T
|
rs780485505
|
0.00001
|
NM_000245.4(MET):c.2583+7A>T
|
rs756403758
|
0.00001
|
NM_000245.4(MET):c.2591A>G (p.Asp864Gly)
|
rs778309347
|
0.00001
|
NM_000245.4(MET):c.2600C>G (p.Pro867Arg)
|
rs983062105
|
0.00001
|
NM_000245.4(MET):c.2613A>C (p.Lys871Asn)
|
rs1385709850
|
0.00001
|
NM_000245.4(MET):c.2667T>G (p.Ser889=)
|
rs1794770224
|
0.00001
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
NM_000245.4(MET):c.2685G>A (p.Thr895=)
|
rs760722037
|
0.00001
|
NM_000245.4(MET):c.268C>T (p.Leu90=)
|
rs376966336
|
0.00001
|
NM_000245.4(MET):c.2693A>G (p.Asn898Ser)
|
rs766430458
|
0.00001
|
NM_000245.4(MET):c.2698C>G (p.Leu900Val)
|
rs1398243931
|
0.00001
|
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr)
|
rs1313347428
|
0.00001
|
NM_000245.4(MET):c.2714G>A (p.Ser905Asn)
|
rs753091019
|
0.00001
|
NM_000245.4(MET):c.2716G>A (p.Glu906Lys)
|
rs778115147
|
0.00001
|
NM_000245.4(MET):c.2731-10T>C
|
rs1360184564
|
0.00001
|
NM_000245.4(MET):c.2731-9C>G
|
rs1794829593
|
0.00001
|
NM_000245.4(MET):c.2754C>T (p.Thr918=)
|
rs770886012
|
0.00001
|
NM_000245.4(MET):c.2795C>T (p.Thr932Ile)
|
rs758486777
|
0.00001
|
NM_000245.4(MET):c.279A>C (p.Pro93=)
|
rs780928472
|
0.00001
|
NM_000245.4(MET):c.2802G>C (p.Leu934Phe)
|
rs1361155132
|
0.00001
|
NM_000245.4(MET):c.2805T>A (p.Ile935=)
|
rs763131600
|
0.00001
|
NM_000245.4(MET):c.280G>T (p.Asp94Tyr)
|
rs899151863
|
0.00001
|
NM_000245.4(MET):c.281A>G (p.Asp94Gly)
|
rs368328347
|
0.00001
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
NM_000245.4(MET):c.2870A>G (p.Lys957Arg)
|
rs1794836962
|
0.00001
|
NM_000245.4(MET):c.2888-17T>C
|
rs767063578
|
0.00001
|
NM_000245.4(MET):c.2905G>C (p.Val969Leu)
|
rs757925979
|
0.00001
|
NM_000245.4(MET):c.2914G>A (p.Asp972Asn)
|
rs756031094
|
0.00001
|
NM_000245.4(MET):c.291A>G (p.Pro97=)
|
rs1584876383
|
0.00001
|
NM_000245.4(MET):c.2974A>G (p.Thr992Ala)
|
rs774433287
|
0.00001
|
NM_000245.4(MET):c.2977A>G (p.Thr993Ala)
|
rs587778441
|
0.00001
|
NM_000245.4(MET):c.297G>A (p.Gln99=)
|
rs1584876390
|
0.00001
|
NM_000245.4(MET):c.2986G>A (p.Val996Ile)
|
rs773447798
|
0.00001
|
NM_000245.4(MET):c.302G>A (p.Cys101Tyr)
|
rs1791473684
|
0.00001
|
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu)
|
rs565938550
|
0.00001
|
NM_000245.4(MET):c.305G>A (p.Ser102Asn)
|
rs779897466
|
0.00001
|
NM_000245.4(MET):c.306C>G (p.Ser102Arg)
|
rs749383450
|
0.00001
|
NM_000245.4(MET):c.308G>A (p.Ser103Asn)
|
rs768675699
|
0.00001
|
NM_000245.4(MET):c.3091A>G (p.Met1031Val)
|
rs45564937
|
0.00001
|
NM_000245.4(MET):c.3095C>T (p.Ser1032Phe)
|
rs1201989602
|
0.00001
|
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile)
|
rs758440368
|
0.00001
|
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr)
|
rs1794949971
|
0.00001
|
NM_000245.4(MET):c.3134C>G (p.Pro1045Arg)
|
rs1554398862
|
0.00001
|
NM_000245.4(MET):c.3149C>G (p.Thr1050Ser)
|
rs1179812872
|
0.00001
|
NM_000245.4(MET):c.3152T>C (p.Val1051Ala)
|
rs1319458719
|
0.00001
|
NM_000245.4(MET):c.3155A>G (p.His1052Arg)
|
rs763398740
|
0.00001
|
NM_000245.4(MET):c.3157A>T (p.Ile1053Phe)
|
rs1278254320
|
0.00001
|
NM_000245.4(MET):c.315C>T (p.Ala105=)
|
rs1428685262
|
0.00001
|
NM_000245.4(MET):c.3192G>C (p.Gln1064His)
|
rs974352099
|
0.00001
|
NM_000245.4(MET):c.3195A>G (p.Ala1065=)
|
rs1794952295
|
0.00001
|
NM_000245.4(MET):c.319T>G (p.Leu107Val)
|
rs1791474714
|
0.00001
|
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg)
|
rs1554398900
|
0.00001
|
NM_000245.4(MET):c.3208G>A (p.Val1070Met)
|
rs760285693
|
0.00001
|
NM_000245.4(MET):c.3217C>T (p.Pro1073Ser)
|
rs398123569
|
0.00001
|
NM_000245.4(MET):c.3220A>G (p.Ser1074Gly)
|
rs764947837
|
0.00001
|
NM_000245.4(MET):c.3231T>A (p.Ile1077=)
|
rs1251215478
|
0.00001
|
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser)
|
rs1794954978
|
0.00001
|
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser)
|
rs764213589
|
0.00001
|
NM_000245.4(MET):c.3250A>G (p.Ile1084Val)
|
rs757539632
|
0.00001
|
NM_000245.4(MET):c.3260-4A>G
|
rs864622521
|
0.00001
|
NM_000245.4(MET):c.3261G>A (p.Gly1087=)
|
rs1422966258
|
0.00001
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
NM_000245.4(MET):c.3276A>T (p.Val1092=)
|
rs757338659
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000245.4(MET):c.3289T>C (p.Leu1097=)
|
rs45583838
|
0.00001
|
NM_000245.4(MET):c.3292T>C (p.Leu1098=)
|
rs978734201
|
0.00001
|
NM_000245.4(MET):c.3318C>T (p.His1106=)
|
rs755500683
|
0.00001
|
NM_000245.4(MET):c.331G>A (p.Val111Ile)
|
rs368750834
|
0.00001
|
NM_000245.4(MET):c.3341-12T>C
|
rs1235902821
|
0.00001
|
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn)
|
rs367634278
|
0.00001
|
NM_000245.4(MET):c.3397G>C (p.Asp1133His)
|
rs745437003
|
0.00001
|
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)
|
rs1394199299
|
0.00001
|
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu)
|
rs375395179
|
0.00001
|
NM_000245.4(MET):c.3423G>A (p.Ser1141=)
|
rs567551556
|
0.00001
|
NM_000245.4(MET):c.3427C>T (p.Leu1143=)
|
rs774334135
|
0.00001
|
NM_000245.4(MET):c.3430G>A (p.Gly1144Arg)
|
rs1795070539
|
0.00001
|
NM_000245.4(MET):c.3442C>A (p.Arg1148=)
|
rs879254336
|
0.00001
|
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln)
|
rs761808213
|
0.00001
|
NM_000245.4(MET):c.3495T>C (p.Leu1165=)
|
rs758902071
|
0.00001
|
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter)
|
rs200754673
|
0.00001
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala)
|
rs779636840
|
0.00001
|
NM_000245.4(MET):c.3539A>T (p.Asp1180Val)
|
rs751961995
|
0.00001
|
NM_000245.4(MET):c.356C>T (p.Ala119Val)
|
rs904162290
|
0.00001
|
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr)
|
rs970206545
|
0.00001
|
NM_000245.4(MET):c.3594A>G (p.Lys1198=)
|
rs199883640
|
0.00001
|
NM_000245.4(MET):c.3597G>A (p.Lys1199=)
|
rs1795174174
|
0.00001
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
NM_000245.4(MET):c.3633-11C>T
|
rs1424157003
|
0.00001
|
NM_000245.4(MET):c.3633-7T>C
|
rs863224379
|
0.00001
|
NM_000245.4(MET):c.3633-8T>C
|
rs1405684941
|
0.00001
|
NM_000245.4(MET):c.3633-9_3633-8insC
|
rs1562935745
|
0.00001
|
NM_000245.4(MET):c.366C>T (p.Val122=)
|
rs202026780
|
0.00001
|
NM_000245.4(MET):c.3672T>C (p.Gly1224=)
|
rs762218595
|
0.00001
|
NM_000245.4(MET):c.3684C>T (p.Asp1228=)
|
rs786201612
|
0.00001
|
NM_000245.4(MET):c.3685A>G (p.Met1229Val)
|
rs768125521
|
0.00001
|
NM_000245.4(MET):c.3686T>C (p.Met1229Thr)
|
rs1193542215
|
0.00001
|
NM_000245.4(MET):c.3727G>A (p.Ala1243Thr)
|
rs752351789
|
0.00001
|
NM_000245.4(MET):c.3735G>A (p.Leu1245=)
|
rs1323787899
|
0.00001
|
NM_000245.4(MET):c.377A>G (p.Tyr126Cys)
|
rs542267057
|
0.00001
|
NM_000245.4(MET):c.3798+16T>A
|
rs780154942
|
0.00001
|
NM_000245.4(MET):c.3799-10G>A
|
rs1270863054
|
0.00001
|
NM_000245.4(MET):c.3799-5A>G
|
rs1340355638
|
0.00001
|
NM_000245.4(MET):c.3804C>G (p.Ser1268=)
|
rs764822445
|
0.00001
|
NM_000245.4(MET):c.3859G>A (p.Val1287Ile)
|
rs780102059
|
0.00001
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
NM_000245.4(MET):c.3916G>A (p.Glu1306Lys)
|
rs1436537175
|
0.00001
|
NM_000245.4(MET):c.391A>G (p.Ile131Val)
|
rs1309236031
|
0.00001
|
NM_000245.4(MET):c.3935+15T>C
|
rs375531399
|
0.00001
|
NM_000245.4(MET):c.3935+6T>C
|
rs1301383613
|
0.00001
|
NM_000245.4(MET):c.3937T>C (p.Tyr1313His)
|
rs1290917552
|
0.00001
|
NM_000245.4(MET):c.3949C>T (p.Leu1317=)
|
rs1219703716
|
0.00001
|
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln)
|
rs1159812687
|
0.00001
|
NM_000245.4(MET):c.3960G>A (p.Trp1320Ter)
|
rs1174194833
|
0.00001
|
NM_000245.4(MET):c.3966T>A (p.Pro1322=)
|
rs372608840
|
0.00001
|
NM_000245.4(MET):c.3972C>T (p.Ala1324=)
|
rs201519623
|
0.00001
|
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys)
|
rs587778444
|
0.00001
|
NM_000245.4(MET):c.3980G>A (p.Arg1327His)
|
rs1443741792
|
0.00001
|
NM_000245.4(MET):c.3997C>G (p.Leu1333Val)
|
rs758738756
|
0.00001
|
NM_000245.4(MET):c.4008G>A (p.Arg1336=)
|
rs373857586
|
0.00001
|
NM_000245.4(MET):c.400G>A (p.Gly134Ser)
|
rs1584876675
|
0.00001
|
NM_000245.4(MET):c.4018A>G (p.Ile1340Val)
|
rs1060503543
|
0.00001
|
NM_000245.4(MET):c.4042C>A (p.His1348Asn)
|
rs773772398
|
0.00001
|
NM_000245.4(MET):c.405C>T (p.Ser135=)
|
rs200494620
|
0.00001
|
NM_000245.4(MET):c.4068T>C (p.Tyr1356=)
|
rs767214353
|
0.00001
|
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr)
|
rs766190061
|
0.00001
|
NM_000245.4(MET):c.4097C>A (p.Pro1366His)
|
rs778084120
|
0.00001
|
NM_000245.4(MET):c.4119T>C (p.Asp1373=)
|
rs771571698
|
0.00001
|
NM_000245.4(MET):c.4122C>T (p.Asn1374=)
|
rs370767911
|
0.00001
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
rs758486336
|
0.00001
|
NM_000245.4(MET):c.4151C>G (p.Ala1384Gly)
|
rs202166889
|
0.00001
|
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr)
|
rs764303128
|
0.00001
|
NM_000245.4(MET):c.427C>T (p.Arg143Ter)
|
rs779093896
|
0.00001
|
NM_000245.4(MET):c.433G>A (p.Val145Ile)
|
rs1410705895
|
0.00001
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
NM_000245.4(MET):c.447T>G (p.Asn149Lys)
|
rs974448652
|
0.00001
|
NM_000245.4(MET):c.448C>T (p.His150Tyr)
|
rs1436957498
|
0.00001
|
NM_000245.4(MET):c.462A>G (p.Ile154Met)
|
rs771146873
|
0.00001
|
NM_000245.4(MET):c.481A>G (p.Ile161Val)
|
rs1584876914
|
0.00001
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
NM_000245.4(MET):c.508A>C (p.Ser170Arg)
|
rs750102016
|
0.00001
|
NM_000245.4(MET):c.50C>T (p.Thr17Ile)
|
rs747777018
|
0.00001
|
NM_000245.4(MET):c.527T>C (p.Val176Ala)
|
rs1343674412
|
0.00001
|
NM_000245.4(MET):c.531G>A (p.Val177=)
|
rs755804127
|
0.00001
|
NM_000245.4(MET):c.541G>A (p.Gly181Arg)
|
rs779040487
|
0.00001
|
NM_000245.4(MET):c.543A>C (p.Gly181=)
|
rs1316581869
|
0.00001
|
NM_000245.4(MET):c.546C>A (p.Ala182=)
|
rs570036369
|
0.00001
|
NM_000245.4(MET):c.553C>A (p.Leu185Ile)
|
rs376097698
|
0.00001
|
NM_000245.4(MET):c.572G>A (p.Arg191Gln)
|
rs879254342
|
0.00001
|
NM_000245.4(MET):c.573G>T (p.Arg191=)
|
rs1433702089
|
0.00001
|
NM_000245.4(MET):c.585C>T (p.Phe195=)
|
rs587780737
|
0.00001
|
NM_000245.4(MET):c.599C>A (p.Thr200Asn)
|
rs786202727
|
0.00001
|
NM_000245.4(MET):c.600C>G (p.Thr200=)
|
rs1225303075
|
0.00001
|
NM_000245.4(MET):c.620C>G (p.Pro207Arg)
|
rs1246281148
|
0.00001
|
NM_000245.4(MET):c.624T>C (p.Asp208=)
|
rs1285814811
|
0.00001
|
NM_000245.4(MET):c.625C>T (p.His209Tyr)
|
rs866183824
|
0.00001
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
0.00001
|
NM_000245.4(MET):c.630A>G (p.Pro210=)
|
rs770257335
|
0.00001
|
NM_000245.4(MET):c.631T>C (p.Leu211=)
|
rs1584877307
|
0.00001
|
NM_000245.4(MET):c.65G>T (p.Ser22Ile)
|
rs587780739
|
0.00001
|
NM_000245.4(MET):c.669A>G (p.Lys223=)
|
rs863224380
|
0.00001
|
NM_000245.4(MET):c.670G>T (p.Asp224Tyr)
|
rs765257726
|
0.00001
|
NM_000245.4(MET):c.675T>C (p.Gly225=)
|
rs368249740
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.704T>C (p.Ile235Thr)
|
rs1060503530
|
0.00001
|
NM_000245.4(MET):c.716C>T (p.Pro239Leu)
|
rs45551737
|
0.00001
|
NM_000245.4(MET):c.738C>T (p.Pro246=)
|
rs1461455526
|
0.00001
|
NM_000245.4(MET):c.753T>C (p.His251=)
|
rs1392829448
|
0.00001
|
NM_000245.4(MET):c.768C>T (p.Asn256=)
|
rs1221580502
|
0.00001
|
NM_000245.4(MET):c.769A>G (p.Asn257Asp)
|
rs776407390
|
0.00001
|
NM_000245.4(MET):c.776T>C (p.Ile259Thr)
|
rs587780548
|
0.00001
|
NM_000245.4(MET):c.800A>G (p.Glu267Gly)
|
rs751564290
|
0.00001
|
NM_000245.4(MET):c.805C>T (p.Leu269=)
|
rs781257386
|
0.00001
|
NM_000245.4(MET):c.808G>C (p.Asp270His)
|
rs1060503542
|
0.00001
|
NM_000245.4(MET):c.821T>C (p.Phe274Ser)
|
rs758569834
|
0.00001
|
NM_000245.4(MET):c.828A>G (p.Thr276=)
|
rs779512046
|
0.00001
|
NM_000245.4(MET):c.840G>T (p.Arg280Ser)
|
rs1207381066
|
0.00001
|
NM_000245.4(MET):c.866A>G (p.His289Arg)
|
rs1584877845
|
0.00001
|
NM_000245.4(MET):c.874A>C (p.Met292Leu)
|
rs1395827839
|
0.00001
|
NM_000245.4(MET):c.88C>T (p.Leu30=)
|
rs1060504939
|
0.00001
|
NM_000245.4(MET):c.912A>G (p.Arg304=)
|
rs762885066
|
0.00001
|
NM_000245.4(MET):c.965T>C (p.Val322Ala)
|
rs1306040798
|
0.00001
|
NM_000245.4(MET):c.974C>T (p.Pro325Leu)
|
rs780802614
|
0.00001
|
NM_000245.4(MET):c.983A>G (p.Gln328Arg)
|
rs1165913241
|
0.00001
|
NM_000245.4(MET):c.99C>T (p.Ser33=)
|
rs1363905218
|
0.00001
|
NM_000249.4(MLH1):c.116+14C>G
|
rs773103242
|
0.00001
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.2103+6G>T
|
rs1057521607
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000314.8(PTEN):c.210-12C>T
|
rs766570103
|
0.00001
|
NM_000455.5(STK11):c.480G>T (p.Leu160=)
|
rs1176365465
|
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.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
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.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)
|
rs1002380887
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
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.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
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_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
|
rs148924904
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)
|
rs1057519999
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
NM_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
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_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)
|
rs151316420
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)
|
rs373973053
|
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.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)
|
rs121917732
|
0.00001
|
NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)
|
rs869025244
|
0.00001
|
NM_001166108.2(PALLD):c.*100A>G
|
rs754444061
|
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.*163C>T
|
rs777453756
|
0.00001
|
NM_001166108.2(PALLD):c.*185G>T
|
rs1032243256
|
0.00001
|
NM_001166108.2(PALLD):c.*187A>G
|
rs1177108180
|
0.00001
|
NM_001166108.2(PALLD):c.*196G>A
|
rs896702235
|
0.00001
|
NM_001166108.2(PALLD):c.*33C>A
|
rs569054006
|
0.00001
|
NM_001166108.2(PALLD):c.*67A>G
|
rs1424841441
|
0.00001
|
NM_001166108.2(PALLD):c.*77C>T
|
rs1060502976
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12519C>G
|
rs1358006173
|
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.1965-12556C>T
|
rs878854265
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12575G>A
|
rs554297134
|
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.1965-12617G>A
|
rs1046350904
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12671G>A
|
rs1048578217
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12686G>A
|
rs1275232115
|
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.1965-12703C>T
|
rs1232895995
|
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.1965-12718C>T
|
rs570874237
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12735C>G
|
rs1434151476
|
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.1965-12866C>T
|
rs996343137
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12872C>T
|
rs1752030193
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12878G>A
|
rs1752028956
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12890G>A
|
rs1252109828
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12931C>T
|
rs1452134652
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12968G>A
|
rs1442067136
|
0.00001
|
NM_001166108.2(PALLD):c.1965-12971C>T
|
rs752730979
|
0.00001
|
NM_001166108.2(PALLD):c.1965-8T>C
|
rs1374341509
|
0.00001
|
NM_001166108.2(PALLD):c.1965-9dup
|
rs769161509
|
0.00001
|
NM_001166108.2(PALLD):c.2007C>T (p.Ser669=)
|
rs561075148
|
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.2100+12T>G
|
rs1178801747
|
0.00001
|
NM_001166108.2(PALLD):c.2112C>T (p.Tyr704=)
|
rs372414187
|
0.00001
|
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr)
|
rs775439441
|
0.00001
|
NM_001166108.2(PALLD):c.2133A>G (p.Arg711=)
|
rs374250410
|
0.00001
|
NM_001166108.2(PALLD):c.2148C>T (p.Asp716=)
|
rs1335231320
|
0.00001
|
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu)
|
rs768485147
|
0.00001
|
NM_001166108.2(PALLD):c.2175G>A (p.Glu725=)
|
rs762267147
|
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.2251G>A (p.Glu751Lys)
|
rs759161069
|
0.00001
|
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr)
|
rs763802548
|
0.00001
|
NM_001166108.2(PALLD):c.2268C>T (p.Ser756=)
|
rs931772731
|
0.00001
|
NM_001166108.2(PALLD):c.2304G>A (p.Arg768=)
|
rs748432333
|
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.2382A>G (p.Pro794=)
|
rs757114919
|
0.00001
|
NM_001166108.2(PALLD):c.2517T>C (p.Asp839=)
|
rs934779804
|
0.00001
|
NM_001166108.2(PALLD):c.2532A>G (p.Gln844=)
|
rs754158038
|
0.00001
|
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn)
|
rs746329925
|
0.00001
|
NM_001166108.2(PALLD):c.2622+9G>A
|
rs769517051
|
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.2688G>T (p.Arg896=)
|
rs1257537496
|
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.2745A>G (p.Gly915=)
|
rs200328911
|
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.2862A>G (p.Leu954=)
|
rs1306143762
|
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.2904A>G (p.Val968=)
|
rs781313666
|
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.2922C>T (p.His974=)
|
rs1445122482
|
0.00001
|
NM_001166108.2(PALLD):c.3066A>G (p.Glu1022=)
|
rs773814059
|
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.3177T>C (p.Phe1059=)
|
rs778134231
|
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.3258G>A (p.Leu1086=)
|
rs150256686
|
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.3358+7_3358+8dup
|
rs1560937938
|
0.00001
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
NM_001368894.2(PAX6):c.*272T>G
|
rs934715799
|
0.00001
|
NM_001368894.2(PAX6):c.*626G>C
|
rs1250874661
|
0.00001
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)
|
rs1159095794
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)
|
rs75572362
|
0.00001
|
NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp)
|
rs1057519367
|
0.00001
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)
|
rs758599826
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg)
|
rs761247634
|
0.00001
|
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro)
|
rs1306924167
|
0.00001
|
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)
|
rs547972574
|
0.00001
|
NM_002691.4(POLD1):c.2820+12C>T
|
rs567217817
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp)
|
rs80338796
|
0.00001
|
NM_003011.4(SET):c.701A>G (p.Glu234Gly)
|
rs768759521
|
0.00001
|
NM_003482.4(KMT2D):c.11791C>T (p.Leu3931Phe)
|
rs996158824
|
0.00001
|
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
0.00001
|
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
|
rs121908690
|
0.00001
|
NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)
|
rs763767114
|
0.00001
|
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg)
|
rs763114749
|
0.00001
|
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=)
|
rs1060504907
|
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.*774A>G
|
rs549231645
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_004360.5(CDH1):c.1008+12G>T
|
rs756154578
|
0.00001
|
NM_004360.5(CDH1):c.1008+4del
|
rs746392709
|
0.00001
|
NM_004360.5(CDH1):c.1008+8G>A
|
rs990193541
|
0.00001
|
NM_004360.5(CDH1):c.1009-13G>A
|
rs557444760
|
0.00001
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
NM_004360.5(CDH1):c.1009-6C>T
|
rs771652165
|
0.00001
|
NM_004360.5(CDH1):c.1009-8C>T
|
rs201227194
|
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.1047C>T (p.Asp349=)
|
rs929343982
|
0.00001
|
NM_004360.5(CDH1):c.1063T>C (p.Leu355=)
|
rs750470983
|
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.1083T>C (p.Ala361=)
|
rs1057521835
|
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.111C>T (p.Tyr37=)
|
rs876660002
|
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.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
NM_004360.5(CDH1):c.1137+13C>G
|
rs928350847
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_004360.5(CDH1):c.1137+7C>G
|
rs1330335697
|
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.1138-9G>A
|
rs1960888944
|
0.00001
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
NM_004360.5(CDH1):c.114G>C (p.Thr38=)
|
rs786201492
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_004360.5(CDH1):c.1164G>A (p.Glu388=)
|
rs774875972
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)
|
rs150795245
|
0.00001
|
NM_004360.5(CDH1):c.1209C>G (p.Ala403=)
|
rs982151802
|
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.1214A>G (p.Asn405Ser)
|
rs587778175
|
0.00001
|
NM_004360.5(CDH1):c.1217C>G (p.Thr406Ser)
|
rs753770270
|
0.00001
|
NM_004360.5(CDH1):c.1233T>C (p.Ala411=)
|
rs779630879
|
0.00001
|
NM_004360.5(CDH1):c.1243A>G (p.Ile415Val)
|
rs1060501239
|
0.00001
|
NM_004360.5(CDH1):c.1246T>C (p.Leu416=)
|
rs1459059254
|
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.1266A>G (p.Gln422=)
|
rs776805501
|
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.1320+9G>A
|
rs1276697924
|
0.00001
|
NM_004360.5(CDH1):c.1323C>A (p.Gly441=)
|
rs763647680
|
0.00001
|
NM_004360.5(CDH1):c.1325T>C (p.Leu442Ser)
|
rs752074266
|
0.00001
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
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.136C>T (p.Leu46=)
|
rs1410833063
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.1383T>A (p.Pro461=)
|
rs1238176229
|
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.147C>T (p.Gly49=)
|
rs1057521592
|
0.00001
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
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.1566-10C>T
|
rs778678297
|
0.00001
|
NM_004360.5(CDH1):c.1566-13T>C
|
rs768307928
|
0.00001
|
NM_004360.5(CDH1):c.1566-16G>A
|
rs1291528053
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004360.5(CDH1):c.1566-6G>A
|
rs771635021
|
0.00001
|
NM_004360.5(CDH1):c.1566-7C>T
|
rs747783435
|
0.00001
|
NM_004360.5(CDH1):c.1569T>C (p.Tyr523=)
|
rs876659716
|
0.00001
|
NM_004360.5(CDH1):c.156G>A (p.Leu52=)
|
rs748336113
|
0.00001
|
NM_004360.5(CDH1):c.1571G>A (p.Arg524Gln)
|
rs761180883
|
0.00001
|
NM_004360.5(CDH1):c.1587T>C (p.Thr529=)
|
rs200399144
|
0.00001
|
NM_004360.5(CDH1):c.15C>T (p.Ser5=)
|
rs786201287
|
0.00001
|
NM_004360.5(CDH1):c.1601A>G (p.Glu534Gly)
|
rs765495095
|
0.00001
|
NM_004360.5(CDH1):c.1611G>A (p.Pro537=)
|
rs1060504173
|
0.00001
|
NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)
|
rs756154596
|
0.00001
|
NM_004360.5(CDH1):c.1617T>C (p.Thr539=)
|
rs1596960438
|
0.00001
|
NM_004360.5(CDH1):c.1623C>T (p.Ala541=)
|
rs376662384
|
0.00001
|
NM_004360.5(CDH1):c.1628C>T (p.Ser543Phe)
|
rs148400889
|
0.00001
|
NM_004360.5(CDH1):c.163+16C>G
|
rs1395024294
|
0.00001
|
NM_004360.5(CDH1):c.163+17G>A
|
rs1005743424
|
0.00001
|
NM_004360.5(CDH1):c.163+17G>C
|
rs1005743424
|
0.00001
|
NM_004360.5(CDH1):c.163+20G>A
|
rs1057520806
|
0.00001
|
NM_004360.5(CDH1):c.163+6G>A
|
rs1436334058
|
0.00001
|
NM_004360.5(CDH1):c.163+8C>T
|
rs863224396
|
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.164-16G>A
|
rs756957847
|
0.00001
|
NM_004360.5(CDH1):c.164-20C>T
|
rs751307555
|
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+11C>T
|
rs1205631061
|
0.00001
|
NM_004360.5(CDH1):c.1711+20G>T
|
rs754802438
|
0.00001
|
NM_004360.5(CDH1):c.1711+6G>T
|
rs1555516597
|
0.00001
|
NM_004360.5(CDH1):c.1711+7G>T
|
rs762005138
|
0.00001
|
NM_004360.5(CDH1):c.1711+7_1711+9dup
|
rs762825233
|
0.00001
|
NM_004360.5(CDH1):c.1712-16G>T
|
rs1480219208
|
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.1797T>C (p.Thr599=)
|
rs786201932
|
0.00001
|
NM_004360.5(CDH1):c.1833C>T (p.Val611=)
|
rs748413209
|
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.1848T>C (p.Asp616=)
|
rs189334685
|
0.00001
|
NM_004360.5(CDH1):c.185G>T (p.Gly62Val)
|
rs786203727
|
0.00001
|
NM_004360.5(CDH1):c.1875C>T (p.Pro625=)
|
rs1208455506
|
0.00001
|
NM_004360.5(CDH1):c.1885G>C (p.Glu629Gln)
|
rs1028765743
|
0.00001
|
NM_004360.5(CDH1):c.1890A>C (p.Leu630=)
|
rs1178759799
|
0.00001
|
NM_004360.5(CDH1):c.1893A>C (p.Thr631=)
|
rs786201452
|
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.1902G>A (p.Ala634=)
|
rs754404223
|
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.1971C>T (p.Ala657=)
|
rs1567513183
|
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.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
NM_004360.5(CDH1):c.2050A>G (p.Ser684Gly)
|
rs1407001897
|
0.00001
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr)
|
rs876660560
|
0.00001
|
NM_004360.5(CDH1):c.2073C>T (p.Ala691=)
|
rs536104508
|
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.2115G>A (p.Leu705=)
|
rs759256066
|
0.00001
|
NM_004360.5(CDH1):c.2121T>C (p.Ile707=)
|
rs764657974
|
0.00001
|
NM_004360.5(CDH1):c.2154T>G (p.Leu718=)
|
rs1445172318
|
0.00001
|
NM_004360.5(CDH1):c.2164+14G>A
|
rs754977201
|
0.00001
|
NM_004360.5(CDH1):c.2164+17A>C
|
rs746926799
|
0.00001
|
NM_004360.5(CDH1):c.2164+2T>C
|
rs876661120
|
0.00001
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
NM_004360.5(CDH1):c.2164+7C>T
|
rs756306151
|
0.00001
|
NM_004360.5(CDH1):c.2165-10A>C
|
rs753982211
|
0.00001
|
NM_004360.5(CDH1):c.2165-13C>T
|
rs1293704443
|
0.00001
|
NM_004360.5(CDH1):c.2165-20T>C
|
rs1555517631
|
0.00001
|
NM_004360.5(CDH1):c.2167C>T (p.Leu723=)
|
rs142649208
|
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.2220C>G (p.Pro740=)
|
rs1961376847
|
0.00001
|
NM_004360.5(CDH1):c.2221T>C (p.Leu741=)
|
rs772531531
|
0.00001
|
NM_004360.5(CDH1):c.2226G>A (p.Leu742=)
|
rs563767422
|
0.00001
|
NM_004360.5(CDH1):c.2235G>A (p.Glu745=)
|
rs1267384637
|
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.2295+14A>G
|
rs1024244866
|
0.00001
|
NM_004360.5(CDH1):c.2295+15C>T
|
rs754578936
|
0.00001
|
NM_004360.5(CDH1):c.2295+16C>A
|
rs778429713
|
0.00001
|
NM_004360.5(CDH1):c.2296-19C>T
|
rs764266486
|
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.2316G>T (p.Leu772=)
|
rs1057523941
|
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.2325C>T (p.Gly775=)
|
rs970542777
|
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.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
NM_004360.5(CDH1):c.2361T>C (p.Val787=)
|
rs1555517864
|
0.00001
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
NM_004360.5(CDH1):c.2382C>A (p.Val794=)
|
rs786203579
|
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.2436T>C (p.Asp812=)
|
rs1052245560
|
0.00001
|
NM_004360.5(CDH1):c.2439+13C>T
|
rs765027434
|
0.00001
|
NM_004360.5(CDH1):c.2440-11T>A
|
rs769677489
|
0.00001
|
NM_004360.5(CDH1):c.2440-16G>T
|
rs745826347
|
0.00001
|
NM_004360.5(CDH1):c.2440-6del
|
rs745901278
|
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.24C>G (p.Leu8=)
|
rs1057521296
|
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.2542C>T (p.Leu848=)
|
rs1567517746
|
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.2577T>C (p.Tyr859=)
|
rs765545887
|
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.270G>C (p.Arg90=)
|
rs777822181
|
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.306C>A (p.Ala102=)
|
rs772779133
|
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.357G>C (p.Val119=)
|
rs764499933
|
0.00001
|
NM_004360.5(CDH1):c.35T>C (p.Leu12Pro)
|
rs1191249318
|
0.00001
|
NM_004360.5(CDH1):c.360G>A (p.Gly120=)
|
rs757497479
|
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+18T>C
|
rs751887336
|
0.00001
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
NM_004360.5(CDH1):c.387+6T>C
|
rs764434962
|
0.00001
|
NM_004360.5(CDH1):c.388-17A>G
|
rs571617503
|
0.00001
|
NM_004360.5(CDH1):c.388-6T>G
|
rs767963300
|
0.00001
|
NM_004360.5(CDH1):c.388-7C>G
|
rs201402744
|
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.48+19C>T
|
rs1413775908
|
0.00001
|
NM_004360.5(CDH1):c.48G>T (p.Gln16His)
|
rs749591910
|
0.00001
|
NM_004360.5(CDH1):c.49-8C>A
|
rs774761552
|
0.00001
|
NM_004360.5(CDH1):c.531+20G>A
|
rs1960732460
|
0.00001
|
NM_004360.5(CDH1):c.532-7T>C
|
rs1432324307
|
0.00001
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
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.561G>A (p.Lys187=)
|
rs765426607
|
0.00001
|
NM_004360.5(CDH1):c.562G>A (p.Val188Ile)
|
rs775484115
|
0.00001
|
NM_004360.5(CDH1):c.570C>T (p.Tyr190=)
|
rs761753486
|
0.00001
|
NM_004360.5(CDH1):c.574A>G (p.Ile192Val)
|
rs376102028
|
0.00001
|
NM_004360.5(CDH1):c.582C>T (p.Gly194=)
|
rs786202924
|
0.00001
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)
|
rs146777134
|
0.00001
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
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.627A>G (p.Arg209=)
|
rs371601956
|
0.00001
|
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)
|
rs587781766
|
0.00001
|
NM_004360.5(CDH1):c.63C>T (p.Leu21=)
|
rs1212723972
|
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.66C>T (p.Cys22=)
|
rs865838543
|
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.724G>A (p.Val242Ile)
|
rs111662525
|
0.00001
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
NM_004360.5(CDH1):c.758C>T (p.Thr253Ile)
|
rs776503962
|
0.00001
|
NM_004360.5(CDH1):c.768T>C (p.Asn256=)
|
rs759207947
|
0.00001
|
NM_004360.5(CDH1):c.774C>T (p.Asn258=)
|
rs1057522747
|
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.832+9A>T
|
rs1057521268
|
0.00001
|
NM_004360.5(CDH1):c.833-17T>A
|
rs1057520572
|
0.00001
|
NM_004360.5(CDH1):c.833-19T>C
|
rs762712874
|
0.00001
|
NM_004360.5(CDH1):c.833-20A>T
|
rs1057521024
|
0.00001
|
NM_004360.5(CDH1):c.858C>A (p.Ala286=)
|
rs876660354
|
0.00001
|
NM_004360.5(CDH1):c.867G>A (p.Ala289=)
|
rs754143182
|
0.00001
|
NM_004360.5(CDH1):c.870C>T (p.Asp290=)
|
rs755215407
|
0.00001
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
NM_004360.5(CDH1):c.896C>G (p.Ala299Gly)
|
rs745807727
|
0.00001
|
NM_004360.5(CDH1):c.897C>T (p.Ala299=)
|
rs769799936
|
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.939C>T (p.Asp313=)
|
rs955528859
|
0.00001
|
NM_004360.5(CDH1):c.93C>T (p.Gly31=)
|
rs1555509771
|
0.00001
|
NM_004360.5(CDH1):c.975C>T (p.Val325=)
|
rs1597894252
|
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_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)
|
rs28933370
|
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.2000G>A (p.Ser667Asn)
|
rs878854724
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys)
|
rs139429793
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
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.1795-13G>A
|
rs749522265
|
0.00001
|
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)
|
rs2042187560
|
0.00001
|
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)
|
rs371769427
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)
|
rs754688962
|
0.00001
|
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)
|
rs755415626
|
0.00001
|
NM_014215.3(INSRR):c.3537dup (p.Val1180fs)
|
rs761392074
|
0.00001
|
NM_015297.3(PHF24):c.242G>A (p.Arg81Gln)
|
rs374394658
|
0.00001
|
NM_019040.5(ELP4):c.*1404G>C
|
rs748381549
|
0.00001
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
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.1263+19C>T
|
rs371417381
|
0.00001
|
NM_020975.6(RET):c.138C>T (p.Ala46=)
|
rs1177522214
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1649-7T>C
|
rs758817204
|
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.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
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.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.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.2268C>T (p.Ala756=)
|
rs370791179
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
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.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_020975.6(RET):c.2679C>T (p.Phe893=)
|
rs768188546
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
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.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.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
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.3314C>T (p.Ala1105Val)
|
rs532862288
|
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.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.530G>A (p.Arg177Gln)
|
rs759229505
|
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.625+11A>G
|
rs778239396
|
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_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
NM_021930.6(RINT1):c.1107+1G>T
|
rs200989342
|
0.00001
|
NM_024529.4(CDC73):c.-186C>G
|
rs886045710
|
0.00001
|
NM_024529.5(CDC73):c.*1292C>T
|
rs895043816
|
0.00001
|
NM_024529.5(CDC73):c.*1535A>G
|
rs1011765527
|
0.00001
|
NM_024529.5(CDC73):c.*1660A>G
|
rs1310867519
|
0.00001
|
NM_024529.5(CDC73):c.*2651T>G
|
rs886045730
|
0.00001
|
NM_024529.5(CDC73):c.*298A>T
|
rs1678035186
|
0.00001
|
NM_024529.5(CDC73):c.*3063G>A
|
rs182545034
|
0.00001
|
NM_024529.5(CDC73):c.*3714T>C
|
rs886045737
|
0.00001
|
NM_024529.5(CDC73):c.*3783C>T
|
rs1337028451
|
0.00001
|
NM_024529.5(CDC73):c.*3785A>G
|
rs886045738
|
0.00001
|
NM_024529.5(CDC73):c.*3875A>G
|
rs1678100975
|
0.00001
|
NM_024529.5(CDC73):c.*972A>G
|
rs886045717
|
0.00001
|
NM_024529.5(CDC73):c.-121G>A
|
rs886045711
|
0.00001
|
NM_024529.5(CDC73):c.-135C>T
|
rs1675456932
|
0.00001
|
NM_024529.5(CDC73):c.-167A>G
|
rs1156904196
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1030+10T>C
|
rs960030007
|
0.00001
|
NM_024529.5(CDC73):c.1031-18T>G
|
rs1322891058
|
0.00001
|
NM_024529.5(CDC73):c.1031-3C>T
|
rs770103860
|
0.00001
|
NM_024529.5(CDC73):c.1047T>G (p.Pro349=)
|
rs1225995248
|
0.00001
|
NM_024529.5(CDC73):c.1066+5G>A
|
rs1018448425
|
0.00001
|
NM_024529.5(CDC73):c.1067-4A>G
|
rs749519719
|
0.00001
|
NM_024529.5(CDC73):c.1067-4del
|
rs758036472
|
0.00001
|
NM_024529.5(CDC73):c.1067-9T>C
|
rs1253333879
|
0.00001
|
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)
|
rs771907995
|
0.00001
|
NM_024529.5(CDC73):c.1074A>G (p.Arg358=)
|
rs3203682
|
0.00001
|
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile)
|
rs1677294864
|
0.00001
|
NM_024529.5(CDC73):c.1080C>G (p.Pro360=)
|
rs1211967086
|
0.00001
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
NM_024529.5(CDC73):c.1105A>G (p.Thr369Ala)
|
rs762532730
|
0.00001
|
NM_024529.5(CDC73):c.111G>A (p.Lys37=)
|
rs1355286253
|
0.00001
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu)
|
rs587778167
|
0.00001
|
NM_024529.5(CDC73):c.1153A>C (p.Lys385Gln)
|
rs762203137
|
0.00001
|
NM_024529.5(CDC73):c.1154+17A>G
|
rs1677296857
|
0.00001
|
NM_024529.5(CDC73):c.1155-18A>G
|
rs570158564
|
0.00001
|
NM_024529.5(CDC73):c.1167A>C (p.Ser389=)
|
rs762138528
|
0.00001
|
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser)
|
rs746972930
|
0.00001
|
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg)
|
rs374856513
|
0.00001
|
NM_024529.5(CDC73):c.1194A>G (p.Gln398=)
|
rs1325048946
|
0.00001
|
NM_024529.5(CDC73):c.1212A>C (p.Leu404=)
|
rs552978336
|
0.00001
|
NM_024529.5(CDC73):c.1215A>T (p.Ile405=)
|
rs765427308
|
0.00001
|
NM_024529.5(CDC73):c.1234A>G (p.Met412Val)
|
rs752959843
|
0.00001
|
NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
|
rs780906083
|
0.00001
|
NM_024529.5(CDC73):c.1254A>C (p.Ala418=)
|
rs1364135790
|
0.00001
|
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val)
|
rs1198867364
|
0.00001
|
NM_024529.5(CDC73):c.1269A>G (p.Val423=)
|
rs745826358
|
0.00001
|
NM_024529.5(CDC73):c.1287C>T (p.Asp429=)
|
rs756002639
|
0.00001
|
NM_024529.5(CDC73):c.1308T>A (p.Pro436=)
|
rs991835494
|
0.00001
|
NM_024529.5(CDC73):c.131+10G>T
|
rs745330677
|
0.00001
|
NM_024529.5(CDC73):c.131+14G>C
|
rs374880255
|
0.00001
|
NM_024529.5(CDC73):c.131+17T>C
|
rs748937817
|
0.00001
|
NM_024529.5(CDC73):c.131+4A>G
|
rs878855089
|
0.00001
|
NM_024529.5(CDC73):c.1316+10T>A
|
rs1404967161
|
0.00001
|
NM_024529.5(CDC73):c.1317-6T>C
|
rs1422764501
|
0.00001
|
NM_024529.5(CDC73):c.132-10A>T
|
rs757250113
|
0.00001
|
NM_024529.5(CDC73):c.132-12T>A
|
rs751268088
|
0.00001
|
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr)
|
rs1553291414
|
0.00001
|
NM_024529.5(CDC73):c.1359G>A (p.Gln453=)
|
rs1572217729
|
0.00001
|
NM_024529.5(CDC73):c.1374A>G (p.Pro458=)
|
rs1257938148
|
0.00001
|
NM_024529.5(CDC73):c.138A>T (p.Gly46=)
|
rs1572142522
|
0.00001
|
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val)
|
rs1252554973
|
0.00001
|
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)
|
rs1678015324
|
0.00001
|
NM_024529.5(CDC73):c.1451G>A (p.Arg484His)
|
rs774557338
|
0.00001
|
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val)
|
rs761968225
|
0.00001
|
NM_024529.5(CDC73):c.1461A>C (p.Pro487=)
|
rs1214206363
|
0.00001
|
NM_024529.5(CDC73):c.1464T>C (p.Asn488=)
|
rs1001791306
|
0.00001
|
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)
|
rs1465509067
|
0.00001
|
NM_024529.5(CDC73):c.1551A>G (p.Thr517=)
|
rs752668844
|
0.00001
|
NM_024529.5(CDC73):c.1552T>C (p.Leu518=)
|
rs758050507
|
0.00001
|
NM_024529.5(CDC73):c.1559+20A>G
|
rs1281829953
|
0.00001
|
NM_024529.5(CDC73):c.1559+4A>G
|
rs1001095861
|
0.00001
|
NM_024529.5(CDC73):c.1559+9G>A
|
rs1335505407
|
0.00001
|
NM_024529.5(CDC73):c.1560-11del
|
rs772000043
|
0.00001
|
NM_024529.5(CDC73):c.1572G>A (p.Lys524=)
|
rs988984386
|
0.00001
|
NM_024529.5(CDC73):c.1574A>G (p.His525Arg)
|
rs188778681
|
0.00001
|
NM_024529.5(CDC73):c.1575T>G (p.His525Gln)
|
rs1378278674
|
0.00001
|
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu)
|
rs767254478
|
0.00001
|
NM_024529.5(CDC73):c.1595G>A (p.Ter532=)
|
rs1358200605
|
0.00001
|
NM_024529.5(CDC73):c.187C>T (p.Leu63=)
|
rs779704449
|
0.00001
|
NM_024529.5(CDC73):c.198C>T (p.Asn66=)
|
rs1216098981
|
0.00001
|
NM_024529.5(CDC73):c.199G>A (p.Val67Met)
|
rs748952219
|
0.00001
|
NM_024529.5(CDC73):c.204C>T (p.His68=)
|
rs1052345208
|
0.00001
|
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)
|
rs886041158
|
0.00001
|
NM_024529.5(CDC73):c.228A>G (p.Arg76=)
|
rs978907694
|
0.00001
|
NM_024529.5(CDC73):c.238-16A>C
|
rs1440236127
|
0.00001
|
NM_024529.5(CDC73):c.273A>C (p.Arg91=)
|
rs1675670810
|
0.00001
|
NM_024529.5(CDC73):c.280C>T (p.Leu94=)
|
rs747811573
|
0.00001
|
NM_024529.5(CDC73):c.288A>G (p.Gly96=)
|
rs144194535
|
0.00001
|
NM_024529.5(CDC73):c.303A>C (p.Glu101Asp)
|
rs372978307
|
0.00001
|
NM_024529.5(CDC73):c.315G>A (p.Ser105=)
|
rs771258964
|
0.00001
|
NM_024529.5(CDC73):c.318A>C (p.Ala106=)
|
rs1415842827
|
0.00001
|
NM_024529.5(CDC73):c.322A>G (p.Ile108Val)
|
rs1475793228
|
0.00001
|
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)
|
rs763095800
|
0.00001
|
NM_024529.5(CDC73):c.36C>T (p.Asn12=)
|
rs1238773294
|
0.00001
|
NM_024529.5(CDC73):c.370+17A>G
|
rs760583012
|
0.00001
|
NM_024529.5(CDC73):c.371-17T>C
|
rs763780849
|
0.00001
|
NM_024529.5(CDC73):c.371-5T>C
|
rs968260282
|
0.00001
|
NM_024529.5(CDC73):c.372C>G (p.Val124=)
|
rs746368285
|
0.00001
|
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr)
|
rs756584058
|
0.00001
|
NM_024529.5(CDC73):c.391G>A (p.Val131Ile)
|
rs769052041
|
0.00001
|
NM_024529.5(CDC73):c.416G>A (p.Arg139Gln)
|
rs1675778391
|
0.00001
|
NM_024529.5(CDC73):c.423+12G>A
|
rs1442957149
|
0.00001
|
NM_024529.5(CDC73):c.424-17C>A
|
rs750008798
|
0.00001
|
NM_024529.5(CDC73):c.424-7T>C
|
rs370666592
|
0.00001
|
NM_024529.5(CDC73):c.429A>G (p.Glu143=)
|
rs1258202181
|
0.00001
|
NM_024529.5(CDC73):c.489G>A (p.Gly163=)
|
rs776075865
|
0.00001
|
NM_024529.5(CDC73):c.498G>A (p.Gln166=)
|
rs1553279087
|
0.00001
|
NM_024529.5(CDC73):c.501T>C (p.Thr167=)
|
rs200603992
|
0.00001
|
NM_024529.5(CDC73):c.512+10C>G
|
rs147939077
|
0.00001
|
NM_024529.5(CDC73):c.512+13T>C
|
rs1442435592
|
0.00001
|
NM_024529.5(CDC73):c.513-8G>T
|
rs757366134
|
0.00001
|
NM_024529.5(CDC73):c.519G>A (p.Leu173=)
|
rs749039338
|
0.00001
|
NM_024529.5(CDC73):c.534A>G (p.Ser178=)
|
rs150365980
|
0.00001
|
NM_024529.5(CDC73):c.546T>C (p.Ile182=)
|
rs1478351190
|
0.00001
|
NM_024529.5(CDC73):c.552A>C (p.Ala184=)
|
rs1170697980
|
0.00001
|
NM_024529.5(CDC73):c.609T>C (p.Asp203=)
|
rs1160145790
|
0.00001
|
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln)
|
rs1455683303
|
0.00001
|
NM_024529.5(CDC73):c.654A>G (p.Val218=)
|
rs1675913850
|
0.00001
|
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly)
|
rs776394390
|
0.00001
|
NM_024529.5(CDC73):c.690A>G (p.Val230=)
|
rs190156691
|
0.00001
|
NM_024529.5(CDC73):c.729+18C>T
|
rs767669963
|
0.00001
|
NM_024529.5(CDC73):c.729+20C>T
|
rs750619160
|
0.00001
|
NM_024529.5(CDC73):c.729+7A>G
|
rs1060503807
|
0.00001
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
0.00001
|
NM_024529.5(CDC73):c.754A>G (p.Ile252Val)
|
rs374290883
|
0.00001
|
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys)
|
rs878855091
|
0.00001
|
NM_024529.5(CDC73):c.788G>A (p.Arg263His)
|
rs1307745420
|
0.00001
|
NM_024529.5(CDC73):c.78C>T (p.Ile26=)
|
rs1675465371
|
0.00001
|
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu)
|
rs1335804597
|
0.00001
|
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln)
|
rs750706815
|
0.00001
|
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg)
|
rs370333081
|
0.00001
|
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser)
|
rs752383339
|
0.00001
|
NM_024529.5(CDC73):c.822A>G (p.Ala274=)
|
rs927001605
|
0.00001
|
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)
|
rs758391256
|
0.00001
|
NM_024529.5(CDC73):c.825T>C (p.Pro275=)
|
rs945631446
|
0.00001
|
NM_024529.5(CDC73):c.829-17A>C
|
rs1676082795
|
0.00001
|
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
|
rs754070093
|
0.00001
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
NM_024529.5(CDC73):c.84G>A (p.Gly28=)
|
rs780205664
|
0.00001
|
NM_024529.5(CDC73):c.856A>G (p.Ile286Val)
|
rs1362923384
|
0.00001
|
NM_024529.5(CDC73):c.889A>C (p.Arg297=)
|
rs748954863
|
0.00001
|
NM_024529.5(CDC73):c.907+20T>C
|
rs772519117
|
0.00001
|
NM_024529.5(CDC73):c.908-4G>T
|
rs748472788
|
0.00001
|
NM_024529.5(CDC73):c.933T>A (p.Thr311=)
|
rs1409062093
|
0.00001
|
NM_024529.5(CDC73):c.972+9A>C
|
rs1266238884
|
0.00001
|
NM_024529.5(CDC73):c.973-15C>T
|
rs1316699413
|
0.00001
|
NM_024529.5(CDC73):c.987C>T (p.Ala329=)
|
rs1037572907
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)
|
rs1214293842
|
0.00001
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)
|
rs1313891453
|
0.00001
|
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)
|
rs561236067
|
0.00001
|
NM_144997.7(FLCN):c.1301-8T>C
|
rs571192457
|
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.1539-11G>C
|
rs368472222
|
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.619-8C>T
|
rs1274815686
|
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.779+1G>T
|
rs758175953
|
0.00001
|
NM_144997.7(FLCN):c.780-13C>T
|
rs777670469
|
0.00001
|
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)
|
rs748031634
|
0.00001
|
NM_144997.7(FLCN):c.981A>G (p.Ala327=)
|
rs763078516
|
0.00001
|
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)
|
rs770027312
|
0.00001
|
FGFR2-CLIP1 fusion
|
|
|
GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3
|
|
|
GRCh37/hg19 10p11.23(chr10:30728036-30900919)x3
|
|
|
GRCh37/hg19 10p12.1(chr10:27326892-27356151)x3
|
|
|
GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3
|
|
|
GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3
|
|
|
GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3
|
|
|
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3
|
|
|
GRCh37/hg19 11p15.4(chr11:9042668-9165735)x3
|
|
|
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1
|
|
|
GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3
|
|
|
GRCh37/hg19 11q21(chr11:94696615-95528715)x3
|
|
|
GRCh37/hg19 11q23.1(chr11:111735939-111784393)x3
|
|
|
GRCh37/hg19 11q23.1(chr11:111789713-111857622)x4
|
|
|
GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3
|
|
|
GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3
|
|
|
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3
|
|
|
GRCh37/hg19 12p13.32(chr12:4627993-4665594)x3
|
|
|
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3
|
|
|
GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3
|
|
|
GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4
|
|
|
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3
|
|
|
GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3
|
|
|
GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4
|
|
|
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
|
|
|
GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3
|
|
|
GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4
|
|
|
GRCh37/hg19 14q32.33(chr14:105936477-105995652)x3
|
|
|
GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3
|
|
|
GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3
|
|
|
GRCh37/hg19 15q23(chr15:69079813-72040847)x3
|
|
|
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3
|
|
|
GRCh37/hg19 15q26.1(chr15:90931601-90976990)x3
|
|
|
GRCh37/hg19 15q26.1(chr15:91475054-91478581)x3
|
|
|
GRCh37/hg19 15q26.1(chr15:93198718-93536159)x3
|
|
|
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29814850-29830976)x4
|
|
|
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5
|
|
|
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4
|
|
|
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3
|
|
|
GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4
|
|
|
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:324072-705832)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:706802-772110)x4
|
|
|
GRCh37/hg19 16p13.3(chr16:772433-857560)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-323799)x3
|
|
|
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3
|
|
|
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3
|
|
|
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1
|
|
|
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1
|
|
|
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1
|
|
|
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1
|
|
|
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1
|
|
|
GRCh37/hg19 17p11.2(chr17:16052798-16062131)x4
|
|
|
GRCh37/hg19 17p11.2(chr17:17718204-17726877)x3
|
|
|
GRCh37/hg19 17p12(chr17:11887472-12044521)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:7736464-7798352)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3
|
|
|
GRCh37/hg19 18p11.21-q11.1(chr18:14748529-18690826)x3
|
|
|
GRCh37/hg19 18q12.2(chr18:33611007-33722860)x4
|
|
|
GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3
|
|
|
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1
|
|
|
GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3
|
|
|
GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3
|
|
|
GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3
|
|
|
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3
|
|
|
GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1
|
|
|
GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3
|
|
|
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1
|
|
|
GRCh37/hg19 19q13.42(chr19:54647215-54705417)x3
|
|
|
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1
|
|
|
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1
|
|
|
GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3
|
|
|
GRCh37/hg19 1p13.3(chr1:108115974-108313305)x3
|
|
|
GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6
|
|
|
GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3
|
|
|
GRCh37/hg19 1p31.3(chr1:61543299-61548462)x7
|
|
|
GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3
|
|
|
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1
|
|
|
GRCh37/hg19 1p36.22(chr1:11850846-11867218)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3
|
|
|
GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3
|
|
|
GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3
|
|
|
GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3
|
|
|
GRCh37/hg19 1q21.3(chr1:153742283-153752391)x3
|
|
|
GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3
|
|
|
GRCh37/hg19 1q41(chr1:215747156-215751043)x5
|
|
|
GRCh37/hg19 20p11.21(chr20:25284225-25371245)x3
|
|
|
GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3
|
|
|
GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3
|
|
|
GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3
|
|
|
GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3
|
|
|
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1
|
|
|
GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4
|
|
|
GRCh37/hg19 22q13.33(chr22:50318056-50437748)x3
|
|
|
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3
|
|
|
GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3
|
|
|
GRCh37/hg19 2p13.2(chr2:71595585-71645751)x3
|
|
|
GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3
|
|
|
GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3
|
|
|
GRCh37/hg19 2q31.1(chr2:170009392-170072852)x3
|
|
|
GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3
|
|
|
GRCh37/hg19 2q31.3-32.1(chr2:182756899-183051256)x4
|
|
|
GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3
|
|
|
GRCh37/hg19 2q35(chr2:219221864-219423299)x3
|
|
|
GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3
|
|
|
GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3
|
|
|
GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3
|
|
|
GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3
|
|
|
GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3
|
|
|
GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4
|
|
|
GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3
|
|
|
GRCh37/hg19 3q29(chr3:193333511-194338436)x3
|
|
|
GRCh37/hg19 4q13.2(chr4:68488897-68562395)x3
|
|
|
GRCh37/hg19 4q24(chr4:104035661-104119449)x3
|
|
|
GRCh37/hg19 4q32.3(chr4:169325195-169379102)x3
|
|
|
GRCh37/hg19 4q33(chr4:170482863-170581561)x4
|
|
|
GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4
|
|
|
GRCh37/hg19 4q34.1(chr4:174254726-174298418)x4
|
|
|
GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4
|
|
|
GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3
|
|
|
GRCh37/hg19 5q12.3(chr5:64817329-64847428)x7
|
|
|
GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3
|
|
|
GRCh37/hg19 5q23.1-23.2(chr5:121297746-121406237)x4
|
|
|
GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3
|
|
|
GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3
|
|
|
GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3
|
|
|
GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3
|
|
|
GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3
|
|
|
GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3
|
|
|
GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3
|
|
|
GRCh37/hg19 6p22.1(chr6:30029374-30036983)x3
|
|
|
GRCh37/hg19 6p22.2(chr6:26020923-26056336)x4
|
|
|
GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4
|
|
|
GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3
|
|
|
GRCh37/hg19 6q27(chr6:167412952-167447412)x3
|
|
|
GRCh37/hg19 7q11.22(chr7:70163581-70255359)x4
|
|
|
GRCh37/hg19 7q11.23(chr7:73122969-73256410)x3
|
|
|
GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3
|
|
|
GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3
|
|
|
GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3
|
|
|
GRCh37/hg19 7q36.1(chr7:149174751-149523266)x1
|
|
|
GRCh37/hg19 8p11.22(chr8:39645687-39694694)x4
|
|
|
GRCh37/hg19 8p22(chr8:17793168-18457910)x3
|
|
|
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3
|
|
|
GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3
|
|
|
GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3
|
|
|
GRCh37/hg19 9q33.2(chr9:123939453-123954476)x4
|
|
|
GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1
|
|
|
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1
|
|
|
GRCh38/hg38 15q25.2(chr15:82663590-82826799)x1
|
|
|
GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1
|
|
|
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
|
|
|
GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1
|
|
|
GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0
|
|
|
GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1
|
|
|
GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1
|
|
|
GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0
|
|
|
GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1
|
|
|
GRCh38/hg38 1p36.11(chr1:26519016-26520363)x0
|
|
|
GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0
|
|
|
GRCh38/hg38 1p36.21(chr1:13272807-13275727)x1
|
|
|
GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1
|
|
|
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1
|
|
|
GRCh38/hg38 20p13(chr20:3672810-3673617)x1
|
|
|
GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
|
|
|
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1
|
|
|
GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1
|
|
|
GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1
|
|
|
GRCh38/hg38 6p12.2(chr6:52751643-52757905)x1
|
|
|
GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1
|
|
|
GRCh38/hg38 9q34.3(chr9:135665886-135775364)x1
|
|
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_193091321)_(193219852_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193172992_?)del
|
|
|
NC_000001.10:g.(?_193094232)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193099294)_(193111206_?)del
|
|
|
NC_000001.10:g.(?_193099298)_(193099379_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193104729_?)del
|
|
|
NC_000001.10:g.(?_193110974)_(193219848_?)dup
|
|
|
NC_000001.10:g.(?_193172915)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172919)_(193205492_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193205486_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193223945_?)dup
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193205496_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193218850)_(193219852_?)dup
|
|
|
NC_000001.11:g.(?_193122191)_(193122341_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193150392_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122191)_(193250722_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)dup
|
|
|
NC_000001.11:g.(?_193125102)_(193130253_?)del
|
|
|
NC_000001.11:g.(?_193130168)_(193135595_?)del
|
|
|
NC_000001.11:g.(?_193130174)_(193130243_?)del
|
|
|
NC_000001.11:g.(?_193135381)_(193138183_?)del
|
|
|
NC_000001.11:g.(?_193141840)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193147857)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193203785)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193236246)_(193236366_?)del
|
|
|
NC_000001.11:g.(?_193249724)_(193250718_?)del
|
|
|
NC_000004.11:g.(?_169815658)_(169819885_?)del
|
|
|
NC_000004.12:g.(?_168877882)_(168926395_?)dup
|
|
|
NC_000004.12:g.(?_168877892)_(168926385_?)dup
|
|
|
NC_000004.12:g.73740307A>T
|
|
|
NC_000007.13:g.(?_116339129)_(116340348_?)dup
|
|
|
NC_000007.13:g.(?_116339129)_(117144427_?)dup
|
|
|
NC_000007.13:g.(?_116339133)_(116399550_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(116411718_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(116436178_?)del
|
|
|
NC_000007.13:g.(?_116339139)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116339139)_(117307162_?)del
|
|
|
NC_000007.13:g.(?_116371712)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116380902)_(116403184_?)del
|
|
|
NC_000007.13:g.(?_116395399)_(116395579_?)dup
|
|
|
NC_000007.13:g.(?_116417433)_(116436178_?)dup
|
|
|
NC_000007.13:g.(?_116435699)_(116436178_?)dup
|
|
|
NC_000007.13:g.116166573-?_116436183+?dup
|
|
|
NC_000007.14:g.(?_116699075)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116699075)_(117667118_?)del
|
|
|
NC_000007.14:g.(?_116699085)_(116700294_?)dup
|
|
|
NC_000007.14:g.(?_116740842)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116740846)_(116741031_?)del
|
|
|
NC_000008.11:g.52623770_52685461del
|
|
|
NC_000016.10:g.(?_68737292)_(68737463_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68738411_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835537_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835541_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68738291)_(68738417_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68833499_?)dup
|
|
|
NC_000016.10:g.(?_68801660)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68801670)_(68801893_?)del
|
|
|
NC_000016.10:g.(?_68808414)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68810187)_(68813505_?)del
|
|
|
NC_000016.10:g.(?_68815505)_(68815769_?)del
|
|
|
NC_000016.10:g.(?_68821991)_(68822235_?)del
|
|
|
NC_000016.10:g.(?_68821995)_(68823632_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68828314_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68828168)_(68829803_?)del
|
|
|
NC_000016.10:g.(?_68833280)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68833284)_(68833505_?)del
|
|
|
NC_000016.10:g.(?_68833290)_(68835537_?)del
|
|
|
NC_000016.10:g.68602418_68796011del
|
|
|
NC_000016.10:g.68815516del
|
rs2152134667
|
|
NC_000016.10:g.68829654del
|
rs2152142199
|
|
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)_(68771376_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68835806_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68867402_?)dup
|
|
|
NC_000016.9:g.(?_68772190)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68820946)_(68842761_?)del
|
|
|
NC_000016.9:g.(?_68835559)_(68867794_?)dup
|
|
|
NC_000016.9:g.(?_68835563)_(68835806_?)dup
|
|
|
NC_000016.9:g.(?_68835563)_(68847408_?)dup
|
|
|
NC_000016.9:g.(?_68835563)_(68863710_?)del
|
|
|
NC_000016.9:g.(?_68835563)_(68867412_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68835802_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68847404_?)dup
|
|
|
NC_000016.9:g.(?_68835567)_(68867408_?)dup
|
|
|
NC_000016.9:g.(?_68840396)_(68842352_?)del
|
|
|
NC_000016.9:g.(?_68842317)_(68847408_?)del
|
|
|
NC_000016.9:g.(?_68842317)_(68849672_?)dup
|
|
|
NC_000016.9:g.(?_68842317)_(68853338_?)dup
|
|
|
NC_000016.9:g.(?_68842317)_(68867402_?)dup
|
|
|
NC_000016.9:g.(?_68842321)_(68867407_?)del
|
|
|
NC_000016.9:g.(?_68845577)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68853173)_(68853338_?)del
|
|
|
NC_000016.9:g.(?_68853177)_(68863706_?)dup
|
|
|
NC_000016.9:g.(?_68855894)_(68857539_?)del
|
|
|
NC_000016.9:g.(?_68857534)_(68864665_?)del
|
|
|
NC_000016.9:g.(?_68857535)_68864666del
|
|
|
NC_000016.9:g.(?_68861950)_(68863561_?)del
|
|
|
NC_000016.9:g.(?_68863547)_(68867402_?)del
|
|
|
NC_000016.9:g.(?_68867183)_(68867402_?)del
|
|
|
NC_000016.9:g.(?_68867187)_(68867408_?)dup
|
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
NM_000038.6(APC):c.-2_136-2903del
|
|
|
NM_000038.6(APC):c.1015A>T (p.Ser339Cys)
|
|
|
NM_000038.6(APC):c.1046_1140del (p.Gln349fs)
|
rs2149780373
|
|
NM_000038.6(APC):c.10G>C (p.Ala4Pro)
|
rs774219012
|
|
NM_000038.6(APC):c.1259_1269del (p.Cys420fs)
|
rs2149783399
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1313-2_1743+144del
|
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1374T>C (p.Phe458=)
|
rs2149792451
|
|
NM_000038.6(APC):c.1409-2del
|
rs2149808371
|
|
NM_000038.6(APC):c.1463T>C (p.Leu488Pro)
|
rs368434773
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.1592C>G (p.Ala531Gly)
|
rs755879124
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1744-2_1958+1del
|
rs2149840729
|
|
NM_000038.6(APC):c.1744-4C>G
|
rs772745309
|
|
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)
|
rs1554083122
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1904G>A (p.Gly635Glu)
|
rs730881239
|
|
NM_000038.6(APC):c.194del (p.Gln65fs)
|
rs2149784543
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.1993_1994del (p.Leu665fs)
|
rs1580617349
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2160G>A (p.Met720Ile)
|
rs1283428855
|
|
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)
|
rs1554083998
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.2487del (p.Val830fs)
|
rs2149870772
|
|
NM_000038.6(APC):c.2558A>G (p.Glu853Gly)
|
rs1554084263
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2573T>C (p.Ile858Thr)
|
rs1765215022
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2789C>T (p.Thr930Ile)
|
rs1580627038
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2819C>T (p.Ser940Leu)
|
rs544709767
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
|
rs2149880355
|
|
NM_000038.6(APC):c.2938A>T (p.Lys980Ter)
|
rs1554084592
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
NM_000038.6(APC):c.3026del (p.His1009fs)
|
rs2149882615
|
|
NM_000038.6(APC):c.3028del (p.Ser1010fs)
|
rs1554084648
|
|
NM_000038.6(APC):c.3067dup (p.Thr1023fs)
|
rs876658724
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
NM_000038.6(APC):c.3079del (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)
|
rs1554084698
|
|
NM_000038.6(APC):c.3160C>T (p.His1054Tyr)
|
rs1195583636
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)
|
rs1462312032
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.325G>T (p.Glu109Ter)
|
rs1414406816
|
|
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)
|
rs1580633119
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
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.3444_3447del (p.Glu1149fs)
|
rs1554085005
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.346_359del (p.Gly116fs)
|
rs1554069805
|
|
NM_000038.6(APC):c.3490A>G (p.Ile1164Val)
|
rs1554085052
|
|
NM_000038.6(APC):c.3567dup (p.Ser1190fs)
|
rs1554085117
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
NM_000038.6(APC):c.3847del (p.Ala1283fs)
|
rs2149900353
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)
|
rs1554085479
|
|
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.4164_4165del (p.Ser1389fs)
|
rs2149908008
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000038.6(APC):c.422+10C>G
|
rs899376835
|
|
NM_000038.6(APC):c.423-3_531+198del
|
rs2149614301
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4241del (p.Val1414fs)
|
rs1554085659
|
|
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly)
|
rs1303200783
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4440G>C (p.Gln1480His)
|
rs876659881
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)
|
rs1561594148
|
|
NM_000038.6(APC):c.4658C>T (p.Ala1553Val)
|
rs1554086050
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)
|
rs1554086241
|
|
NM_000038.6(APC):c.492_495del (p.Asn164fs)
|
rs1554071590
|
|
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)
|
rs1554086327
|
|
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.5265_5268delinsATCG (p.Ala1755_Ser1756=)
|
rs1554086584
|
|
NM_000038.6(APC):c.52A>G (p.Met18Val)
|
rs587782402
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000038.6(APC):c.5931A>G (p.Gln1977=)
|
rs975299630
|
|
NM_000038.6(APC):c.594dup (p.Ala199fs)
|
rs1554072616
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
NM_000038.6(APC):c.604del (p.Glu202fs)
|
rs2149640346
|
|
NM_000038.6(APC):c.6081C>T (p.Leu2027=)
|
rs1316220949
|
|
NM_000038.6(APC):c.6135del (p.Ala2046fs)
|
rs1554087239
|
|
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg)
|
rs1554087256
|
|
NM_000038.6(APC):c.620G>A (p.Cys207Tyr)
|
rs1268298845
|
|
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.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
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.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)
|
rs1561612604
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)
|
rs199806334
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
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.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn)
|
rs1554089164
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.893_894del (p.His298fs)
|
rs1114167567
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.7629+13G>A
|
rs563651647
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)
|
rs886040557
|
|
NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)
|
rs1593882341
|
|
NM_000059.4(BRCA2):c.8488-15A>G
|
rs775192142
|
|
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser)
|
rs11547328
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000075.4(CDK4):c.71G>A (p.Arg24His)
|
rs104894340
|
|
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu)
|
rs104894340
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)
|
rs1057519882
|
|
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln)
|
rs1057519883
|
|
NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)
|
rs121913385
|
|
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)
|
rs121913385
|
|
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)
|
rs1057519881
|
|
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)
|
rs34968276
|
|
NM_000123.4(ERCC5):c.1081del (p.Leu361fs)
|
rs2140527110
|
|
NM_000136.3(FANCC):c.595dup (p.Leu199fs)
|
rs1057519366
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His)
|
rs387906678
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr)
|
rs1057519900
|
|
NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile)
|
rs1057519800
|
|
NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile)
|
rs1057519799
|
|
NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val)
|
rs1057519798
|
|
NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu)
|
rs1057519901
|
|
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)
|
rs1057519045
|
|
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys)
|
rs121913476
|
|
NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys)
|
rs121913476
|
|
NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile)
|
rs1057519797
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met)
|
rs1057519796
|
|
NM_000141.5(FGFR2):c.1914T>A (p.Asn638Lys)
|
rs1057519854
|
|
NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu)
|
rs1057519795
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.850del (p.His284fs)
|
rs587776836
|
|
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)
|
rs121913111
|
|
NM_000179.3(MSH6):c.-2_260+3387del
|
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1089dup (p.Val364fs)
|
rs2104318953
|
|
NM_000179.3(MSH6):c.1180T>G (p.Ser394Ala)
|
rs1553412587
|
|
NM_000179.3(MSH6):c.1196C>T (p.Pro399Leu)
|
rs878853701
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1553C>A (p.Thr518Asn)
|
rs1553412945
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp)
|
rs1669350157
|
|
NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)
|
rs63751312
|
|
NM_000179.3(MSH6):c.167G>T (p.Gly56Val)
|
rs1572698275
|
|
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp)
|
rs863224618
|
|
NM_000179.3(MSH6):c.1750A>C (p.Thr584Pro)
|
rs1553413123
|
|
NM_000179.3(MSH6):c.1808dup (p.Glu604fs)
|
rs1553413200
|
|
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)
|
rs1669384406
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.1890A>C (p.Ala630=)
|
rs1468271394
|
|
NM_000179.3(MSH6):c.1982del (p.Gly661fs)
|
rs2104380327
|
|
NM_000179.3(MSH6):c.1996T>C (p.Ser666Pro)
|
rs587779222
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)
|
rs1553413693
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)
|
rs1348956744
|
|
NM_000179.3(MSH6):c.2936T>C (p.Leu979Pro)
|
rs1218426245
|
|
NM_000179.3(MSH6):c.2989A>G (p.Lys997Glu)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3300G>C (p.Thr1100=)
|
rs540252208
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2_3556+1del
|
rs2104503689
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3557-3_3573del
|
rs2104521349
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.3801+3A>G
|
rs753049136
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)
|
rs2104556388
|
|
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)
|
rs1553333584
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946G>A (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.4001+11_4001+19del
|
rs2104569281
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.458-2_627+1del
|
rs2104227755
|
|
NM_000179.3(MSH6):c.513A>G (p.Glu171=)
|
rs786201116
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.818G>A (p.Gly273Glu)
|
rs769610487
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)
|
rs121913512
|
|
NM_000222.3(KIT):c.1926A>C (p.Lys642Asn)
|
rs1057519907
|
|
NM_000245.4(MET):c.*105C>A
|
rs886061945
|
|
NM_000245.4(MET):c.*1233G>A
|
rs560568639
|
|
NM_000245.4(MET):c.*1244G>A
|
rs144559852
|
|
NM_000245.4(MET):c.*1244G>T
|
rs144559852
|
|
NM_000245.4(MET):c.*1359T>C
|
rs1795712500
|
|
NM_000245.4(MET):c.*1460C>G
|
rs886061949
|
|
NM_000245.4(MET):c.*1809C>T
|
rs868554436
|
|
NM_000245.4(MET):c.*1882G>T
|
rs886061950
|
|
NM_000245.4(MET):c.*1909A>G
|
rs1795730503
|
|
NM_000245.4(MET):c.*1929A>G
|
rs1321841621
|
|
NM_000245.4(MET):c.*2134T>A
|
rs144156652
|
|
NM_000245.4(MET):c.*2147T>C
|
rs1795737615
|
|
NM_000245.4(MET):c.*2202G>T
|
rs14456
|
|
NM_000245.4(MET):c.*2245G>T
|
rs1447240969
|
|
NM_000245.4(MET):c.*27C>A
|
rs1795669540
|
|
NM_000245.4(MET):c.*2G>T
|
rs1795668471
|
|
NM_000245.4(MET):c.*359G>A
|
rs1795682838
|
|
NM_000245.4(MET):c.*376G>T
|
rs553602374
|
|
NM_000245.4(MET):c.*422T>A
|
rs886061947
|
|
NM_000245.4(MET):c.*438T>A
|
rs955990225
|
|
NM_000245.4(MET):c.*480T>C
|
rs1207133647
|
|
NM_000245.4(MET):c.*493A>C
|
rs1795687373
|
|
NM_000245.4(MET):c.*786C>T
|
rs935854365
|
|
NM_000245.4(MET):c.*984C>T
|
rs573510587
|
|
NM_000245.4(MET):c.*995G>T
|
rs886061948
|
|
NM_000245.4(MET):c.-109C>T
|
rs1796009308
|
|
NM_000245.4(MET):c.-12_17del (p.Met1fs)
|
rs1562882716
|
|
NM_000245.4(MET):c.-157T>G
|
rs886061940
|
|
NM_000245.4(MET):c.-165C>G
|
rs886061939
|
|
NM_000245.4(MET):c.-180C>A
|
rs886061938
|
|
NM_000245.4(MET):c.-182C>A
|
rs536603694
|
|
NM_000245.4(MET):c.-35C>G
|
rs1796012626
|
|
NM_000245.4(MET):c.1001G>A (p.Gly334Glu)
|
rs2116603002
|
|
NM_000245.4(MET):c.1005C>T (p.Ala335=)
|
|
|
NM_000245.4(MET):c.1008C>G (p.Ser336Arg)
|
rs1584878137
|
|
NM_000245.4(MET):c.1009C>A (p.Leu337Met)
|
rs1246936382
|
|
NM_000245.4(MET):c.100G>C (p.Glu34Gln)
|
rs764246939
|
|
NM_000245.4(MET):c.1010T>A (p.Leu337Gln)
|
rs2116603244
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
NM_000245.4(MET):c.1014T>C (p.Asn338=)
|
rs2116603344
|
|
NM_000245.4(MET):c.1015G>A (p.Asp339Asn)
|
rs1463245808
|
|
NM_000245.4(MET):c.1017T>C (p.Asp339=)
|
rs2116603439
|
|
NM_000245.4(MET):c.1018G>A (p.Asp340Asn)
|
rs769544894
|
|
NM_000245.4(MET):c.1018G>C (p.Asp340His)
|
rs769544894
|
|
NM_000245.4(MET):c.1021A>G (p.Ile341Val)
|
rs1791513686
|
|
NM_000245.4(MET):c.1021A>T (p.Ile341Phe)
|
|
|
NM_000245.4(MET):c.1024C>A (p.Leu342Ile)
|
|
|
NM_000245.4(MET):c.1024C>G (p.Leu342Val)
|
rs749082043
|
|
NM_000245.4(MET):c.1029C>A (p.Phe343Leu)
|
|
|
NM_000245.4(MET):c.1029C>T (p.Phe343=)
|
rs56340719
|
|
NM_000245.4(MET):c.1032G>T (p.Gly344=)
|
rs1457756402
|
|
NM_000245.4(MET):c.1033G>A (p.Val345Met)
|
rs1232896056
|
|
NM_000245.4(MET):c.1033del (p.Val345fs)
|
rs1791514332
|
|
NM_000245.4(MET):c.1035G>T (p.Val345=)
|
|
|
NM_000245.4(MET):c.1036T>C (p.Phe346Leu)
|
rs1791514789
|
|
NM_000245.4(MET):c.1039G>T (p.Ala347Ser)
|
|
|
NM_000245.4(MET):c.1041A>C (p.Ala347=)
|
rs1791515202
|
|
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
|
|
|
NM_000245.4(MET):c.1046G>A (p.Ser349Asn)
|
rs1584878246
|
|
NM_000245.4(MET):c.1048A>C (p.Lys350Gln)
|
rs201191014
|
|
NM_000245.4(MET):c.1048A>G (p.Lys350Glu)
|
|
|
NM_000245.4(MET):c.104T>C (p.Met35Thr)
|
|
|
NM_000245.4(MET):c.1050G>A (p.Lys350=)
|
rs1060504940
|
|
NM_000245.4(MET):c.1051C>G (p.Pro351Ala)
|
rs587782807
|
|
NM_000245.4(MET):c.1051C>T (p.Pro351Ser)
|
rs587782807
|
|
NM_000245.4(MET):c.1052C>T (p.Pro351Leu)
|
|
|
NM_000245.4(MET):c.1054G>A (p.Asp352Asn)
|
|
|
NM_000245.4(MET):c.1055A>T (p.Asp352Val)
|
|
|
NM_000245.4(MET):c.1056T>G (p.Asp352Glu)
|
rs2116604421
|
|
NM_000245.4(MET):c.1058C>T (p.Ser353Phe)
|
rs1791516755
|
|
NM_000245.4(MET):c.105G>A (p.Met35Ile)
|
rs376244358
|
|
NM_000245.4(MET):c.1062C>A (p.Ala354=)
|
|
|
NM_000245.4(MET):c.1063G>T (p.Glu355Ter)
|
rs561295443
|
|
NM_000245.4(MET):c.1065A>G (p.Glu355=)
|
rs1584878304
|
|
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
|
|
|
NM_000245.4(MET):c.1066C>T (p.Pro356Ser)
|
|
|
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
|
|
|
NM_000245.4(MET):c.1069A>G (p.Met357Val)
|
rs1554379058
|
|
NM_000245.4(MET):c.1071G>A (p.Met357Ile)
|
rs1246645896
|
|
NM_000245.4(MET):c.1072G>C (p.Asp358His)
|
rs758919662
|
|
NM_000245.4(MET):c.1073A>C (p.Asp358Ala)
|
rs1326405747
|
|
NM_000245.4(MET):c.1074T>C (p.Asp358=)
|
rs1584878345
|
|
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
|
|
|
NM_000245.4(MET):c.1076G>T (p.Arg359Leu)
|
rs201274041
|
|
NM_000245.4(MET):c.1077A>G (p.Arg359=)
|
|
|
NM_000245.4(MET):c.1079C>T (p.Ser360Phe)
|
rs2116604992
|
|
NM_000245.4(MET):c.1081G>A (p.Ala361Thr)
|
|
|
NM_000245.4(MET):c.1081G>C (p.Ala361Pro)
|
rs786202310
|
|
NM_000245.4(MET):c.1082C>T (p.Ala361Val)
|
rs949765512
|
|
NM_000245.4(MET):c.1083C>G (p.Ala361=)
|
|
|
NM_000245.4(MET):c.1083C>T (p.Ala361=)
|
rs1044616410
|
|
NM_000245.4(MET):c.1084A>C (p.Met362Leu)
|
rs1791519202
|
|
NM_000245.4(MET):c.1084A>G (p.Met362Val)
|
|
|
NM_000245.4(MET):c.1086G>A (p.Met362Ile)
|
rs779724665
|
|
NM_000245.4(MET):c.1086G>C (p.Met362Ile)
|
rs779724665
|
|
NM_000245.4(MET):c.1086G>T (p.Met362Ile)
|
|
|
NM_000245.4(MET):c.1087T>C (p.Cys363Arg)
|
|
|
NM_000245.4(MET):c.1088G>A (p.Cys363Tyr)
|
rs1472858680
|
|
NM_000245.4(MET):c.108T>C (p.Asn36=)
|
rs2116580390
|
|
NM_000245.4(MET):c.1090G>A (p.Ala364Thr)
|
rs200016433
|
|
NM_000245.4(MET):c.1091C>T (p.Ala364Val)
|
|
|
NM_000245.4(MET):c.1092A>G (p.Ala364=)
|
|
|
NM_000245.4(MET):c.1096C>G (p.Pro366Ala)
|
|
|
NM_000245.4(MET):c.1100T>A (p.Ile367Asn)
|
|
|
NM_000245.4(MET):c.1104A>G (p.Lys368=)
|
|
|
NM_000245.4(MET):c.1106A>G (p.Tyr369Cys)
|
rs370314484
|
|
NM_000245.4(MET):c.1107T>C (p.Tyr369=)
|
rs1554379127
|
|
NM_000245.4(MET):c.1108G>A (p.Val370Ile)
|
|
|
NM_000245.4(MET):c.1108G>T (p.Val370Phe)
|
|
|
NM_000245.4(MET):c.1113C>A (p.Asn371Lys)
|
rs772014416
|
|
NM_000245.4(MET):c.1113C>G (p.Asn371Lys)
|
rs772014416
|
|
NM_000245.4(MET):c.1114G>A (p.Asp372Asn)
|
rs773200558
|
|
NM_000245.4(MET):c.1123A>G (p.Asn375Asp)
|
rs1375932394
|
|
NM_000245.4(MET):c.1125C>A (p.Asn375Lys)
|
rs776693512
|
|
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)
|
rs776693512
|
|
NM_000245.4(MET):c.1125C>T (p.Asn375=)
|
rs776693512
|
|
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
|
|
|
NM_000245.4(MET):c.1129A>G (p.Ile377Val)
|
rs1554379158
|
|
NM_000245.4(MET):c.1130T>G (p.Ile377Ser)
|
rs1791521654
|
|
NM_000245.4(MET):c.1131C>A (p.Ile377=)
|
rs28444388
|
|
NM_000245.4(MET):c.1131C>G (p.Ile377Met)
|
rs28444388
|
|
NM_000245.4(MET):c.1133T>G (p.Val378Gly)
|
rs2116606225
|
|
NM_000245.4(MET):c.1134C>G (p.Val378=)
|
rs1290039988
|
|
NM_000245.4(MET):c.1136A>G (p.Asn379Ser)
|
rs1320718414
|
|
NM_000245.4(MET):c.1142A>G (p.Asn381Ser)
|
|
|
NM_000245.4(MET):c.1143C>T (p.Asn381=)
|
rs764685570
|
|
NM_000245.4(MET):c.1144A>T (p.Asn382Tyr)
|
rs1791522873
|
|
NM_000245.4(MET):c.1145A>T (p.Asn382Ile)
|
rs2116606480
|
|
NM_000245.4(MET):c.1146T>C (p.Asn382=)
|
|
|
NM_000245.4(MET):c.1149G>A (p.Val383=)
|
rs1033586067
|
|
NM_000245.4(MET):c.114T>A (p.Asn38Lys)
|
rs863224693
|
|
NM_000245.4(MET):c.1152A>G (p.Arg384=)
|
rs2116606658
|
|
NM_000245.4(MET):c.1153T>A (p.Cys385Ser)
|
rs1562884601
|
|
NM_000245.4(MET):c.1155T>C (p.Cys385=)
|
|
|
NM_000245.4(MET):c.1157T>A (p.Leu386His)
|
rs1554379180
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
NM_000245.4(MET):c.1158C>A (p.Leu386=)
|
|
|
NM_000245.4(MET):c.1158C>G (p.Leu386=)
|
|
|
NM_000245.4(MET):c.1158C>T (p.Leu386=)
|
rs1554379184
|
|
NM_000245.4(MET):c.1160A>G (p.Gln387Arg)
|
rs1791523699
|
|
NM_000245.4(MET):c.1164T>A (p.His388Gln)
|
rs1791523904
|
|
NM_000245.4(MET):c.116T>A (p.Met39Lys)
|
rs879254330
|
|
NM_000245.4(MET):c.116T>C (p.Met39Thr)
|
rs879254330
|
|
NM_000245.4(MET):c.1170C>T (p.Tyr390=)
|
rs45552236
|
|
NM_000245.4(MET):c.1172G>T (p.Gly391Val)
|
rs1584878602
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1175C>A (p.Pro392His)
|
|
|
NM_000245.4(MET):c.1179T>A (p.Asn393Lys)
|
|
|
NM_000245.4(MET):c.1179T>C (p.Asn393=)
|
|
|
NM_000245.4(MET):c.117G>A (p.Met39Ile)
|
|
|
NM_000245.4(MET):c.1180C>A (p.His394Asn)
|
rs201628326
|
|
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr)
|
rs1584878668
|
|
NM_000245.4(MET):c.1187A>C (p.His396Pro)
|
rs2116607543
|
|
NM_000245.4(MET):c.1188C>T (p.His396=)
|
|
|
NM_000245.4(MET):c.1190G>A (p.Cys397Tyr)
|
|
|
NM_000245.4(MET):c.1192T>C (p.Phe398Leu)
|
|
|
NM_000245.4(MET):c.1197T>C (p.Asn399=)
|
rs1791526414
|
|
NM_000245.4(MET):c.1199G>A (p.Arg400Lys)
|
rs2116607774
|
|
NM_000245.4(MET):c.119A>T (p.Lys40Met)
|
rs1210616219
|
|
NM_000245.4(MET):c.1200+10A>G
|
rs746880479
|
|
NM_000245.4(MET):c.1200+10A>T
|
rs746880479
|
|
NM_000245.4(MET):c.1200+12C>T
|
|
|
NM_000245.4(MET):c.1200+14G>A
|
rs1791529199
|
|
NM_000245.4(MET):c.1200+20C>T
|
|
|
NM_000245.4(MET):c.1200+2T>C
|
|
|
NM_000245.4(MET):c.1200+3A>G
|
|
|
NM_000245.4(MET):c.1200+6T>A
|
|
|
NM_000245.4(MET):c.1200+9C>T
|
|
|
NM_000245.4(MET):c.1201-12A>C
|
rs2116778819
|
|
NM_000245.4(MET):c.1201-18G>A
|
|
|
NM_000245.4(MET):c.1201-20A>C
|
|
|
NM_000245.4(MET):c.1201-20A>G
|
|
|
NM_000245.4(MET):c.1201-7A>T
|
|
|
NM_000245.4(MET):c.1201-8T>C
|
|
|
NM_000245.4(MET):c.1201-8T>G
|
rs2116778881
|
|
NM_000245.4(MET):c.1201-9T>G
|
rs768133322
|
|
NM_000245.4(MET):c.1204C>A (p.Leu402Ile)
|
rs45441497
|
|
NM_000245.4(MET):c.1207C>A (p.Leu403Met)
|
rs202236031
|
|
NM_000245.4(MET):c.1208T>C (p.Leu403Pro)
|
rs761254993
|
|
NM_000245.4(MET):c.1215T>C (p.Asn405=)
|
rs2116779466
|
|
NM_000245.4(MET):c.1217C>T (p.Ser406Leu)
|
|
|
NM_000245.4(MET):c.1218A>C (p.Ser406=)
|
rs1358705636
|
|
NM_000245.4(MET):c.1220C>T (p.Ser407Leu)
|
rs764580322
|
|
NM_000245.4(MET):c.1222G>T (p.Gly408Cys)
|
|
|
NM_000245.4(MET):c.1226G>A (p.Cys409Tyr)
|
|
|
NM_000245.4(MET):c.1228G>A (p.Glu410Lys)
|
rs1793009396
|
|
NM_000245.4(MET):c.122A>G (p.Tyr41Cys)
|
rs780358093
|
|
NM_000245.4(MET):c.1231G>A (p.Ala411Thr)
|
rs752281264
|
|
NM_000245.4(MET):c.1238G>C (p.Arg413Pro)
|
rs375391602
|
|
NM_000245.4(MET):c.1238G>T (p.Arg413Leu)
|
rs375391602
|
|
NM_000245.4(MET):c.1245A>G (p.Glu415=)
|
rs2116780402
|
|
NM_000245.4(MET):c.1248T>C (p.Tyr416=)
|
rs745726656
|
|
NM_000245.4(MET):c.1249C>A (p.Arg417=)
|
|
|
NM_000245.4(MET):c.1249C>T (p.Arg417Ter)
|
|
|
NM_000245.4(MET):c.1250G>A (p.Arg417Gln)
|
rs2116780504
|
|
NM_000245.4(MET):c.1250G>C (p.Arg417Pro)
|
rs2116780504
|
|
NM_000245.4(MET):c.1253C>T (p.Thr418Ile)
|
rs2116780591
|
|
NM_000245.4(MET):c.1254A>G (p.Thr418=)
|
|
|
NM_000245.4(MET):c.1263C>A (p.Thr421=)
|
rs45499391
|
|
NM_000245.4(MET):c.1265C>T (p.Thr422Ile)
|
rs1793012257
|
|
NM_000245.4(MET):c.1267G>A (p.Ala423Thr)
|
rs922296506
|
|
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
|
|
|
NM_000245.4(MET):c.1272G>A (p.Leu424=)
|
rs1342295714
|
|
NM_000245.4(MET):c.1274A>G (p.Gln425Arg)
|
rs1793013042
|
|
NM_000245.4(MET):c.1276C>T (p.Arg426Cys)
|
rs774779741
|
|
NM_000245.4(MET):c.1280T>C (p.Val427Ala)
|
rs773626056
|
|
NM_000245.4(MET):c.1281T>A (p.Val427=)
|
|
|
NM_000245.4(MET):c.1283A>G (p.Asp428Gly)
|
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
NM_000245.4(MET):c.1286T>C (p.Leu429Ser)
|
|
|
NM_000245.4(MET):c.1287A>C (p.Leu429Phe)
|
rs1793014361
|
|
NM_000245.4(MET):c.1288T>C (p.Phe430Leu)
|
rs2116781526
|
|
NM_000245.4(MET):c.128T>C (p.Leu43Pro)
|
rs1487106127
|
|
NM_000245.4(MET):c.1290C>G (p.Phe430Leu)
|
rs1194542748
|
|
NM_000245.4(MET):c.1295G>A (p.Gly432Asp)
|
rs2116781776
|
|
NM_000245.4(MET):c.1296T>C (p.Gly432=)
|
rs200255054
|
|
NM_000245.4(MET):c.1296T>G (p.Gly432=)
|
rs200255054
|
|
NM_000245.4(MET):c.1297C>G (p.Gln433Glu)
|
rs1584914144
|
|
NM_000245.4(MET):c.1298A>G (p.Gln433Arg)
|
rs774952152
|
|
NM_000245.4(MET):c.1299A>G (p.Gln433=)
|
rs201326561
|
|
NM_000245.4(MET):c.129T>C (p.Leu43=)
|
|
|
NM_000245.4(MET):c.12C>G (p.Pro4=)
|
rs772251895
|
|
NM_000245.4(MET):c.1302C>T (p.Phe434=)
|
rs2116782064
|
|
NM_000245.4(MET):c.1303A>T (p.Ser435Cys)
|
rs1186230260
|
|
NM_000245.4(MET):c.1304G>A (p.Ser435Asn)
|
rs199761604
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
NM_000245.4(MET):c.1309G>A (p.Val437Ile)
|
rs1584914185
|
|
NM_000245.4(MET):c.130C>T (p.Pro44Ser)
|
rs1474436542
|
|
NM_000245.4(MET):c.1310T>C (p.Val437Ala)
|
|
|
NM_000245.4(MET):c.1311C>G (p.Val437=)
|
|
|
NM_000245.4(MET):c.1312C>G (p.Leu438Val)
|
rs587780733
|
|
NM_000245.4(MET):c.1314C>T (p.Leu438=)
|
rs2116782411
|
|
NM_000245.4(MET):c.1317A>G (p.Leu439=)
|
rs2116782479
|
|
NM_000245.4(MET):c.1318A>C (p.Thr440Pro)
|
rs1793016615
|
|
NM_000245.4(MET):c.131C>A (p.Pro44His)
|
rs1554378225
|
|
NM_000245.4(MET):c.1322C>G (p.Ser441Cys)
|
rs751158986
|
|
NM_000245.4(MET):c.1330A>G (p.Thr444Ala)
|
rs2116782829
|
|
NM_000245.4(MET):c.1331C>T (p.Thr444Ile)
|
rs1793017472
|
|
NM_000245.4(MET):c.1333T>C (p.Phe445Leu)
|
|
|
NM_000245.4(MET):c.1333T>G (p.Phe445Val)
|
rs1793017605
|
|
NM_000245.4(MET):c.1336A>C (p.Ile446Leu)
|
|
|
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
|
|
|
NM_000245.4(MET):c.133A>G (p.Asn45Asp)
|
|
|
NM_000245.4(MET):c.1340A>G (p.Lys447Arg)
|
rs1584914259
|
|
NM_000245.4(MET):c.1344A>T (p.Gly448=)
|
|
|
NM_000245.4(MET):c.1347C>A (p.Asp449Glu)
|
rs2116783251
|
|
NM_000245.4(MET):c.1348C>G (p.Leu450Val)
|
|
|
NM_000245.4(MET):c.1348C>T (p.Leu450Phe)
|
rs1793018571
|
|
NM_000245.4(MET):c.134A>G (p.Asn45Ser)
|
rs77651398
|
|
NM_000245.4(MET):c.1350C>T (p.Leu450=)
|
rs2116783338
|
|
NM_000245.4(MET):c.1354A>G (p.Ile452Val)
|
rs1793018926
|
|
NM_000245.4(MET):c.1357G>A (p.Ala453Thr)
|
rs1793019219
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
NM_000245.4(MET):c.135C>T (p.Asn45=)
|
|
|
NM_000245.4(MET):c.1360A>C (p.Asn454His)
|
rs1793019649
|
|
NM_000245.4(MET):c.1361A>G (p.Asn454Ser)
|
|
|
NM_000245.4(MET):c.1361A>T (p.Asn454Ile)
|
rs587780734
|
|
NM_000245.4(MET):c.1362T>C (p.Asn454=)
|
|
|
NM_000245.4(MET):c.1363C>A (p.Leu455Ile)
|
rs780077898
|
|
NM_000245.4(MET):c.1363C>T (p.Leu455Phe)
|
rs780077898
|
|
NM_000245.4(MET):c.1364T>C (p.Leu455Pro)
|
|
|
NM_000245.4(MET):c.1366G>A (p.Gly456Arg)
|
rs1793020405
|
|
NM_000245.4(MET):c.1367_1370del (p.Gly456fs)
|
rs1793020534
|
|
NM_000245.4(MET):c.1370C>T (p.Thr457Ile)
|
|
|
NM_000245.4(MET):c.1377G>A (p.Glu459=)
|
|
|
NM_000245.4(MET):c.1378G>A (p.Gly460Ser)
|
|
|
NM_000245.4(MET):c.1381C>A (p.Arg461Ser)
|
|
|
NM_000245.4(MET):c.1381C>G (p.Arg461Gly)
|
|
|
NM_000245.4(MET):c.1381C>T (p.Arg461Cys)
|
rs1584914359
|
|
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
|
|
|
NM_000245.4(MET):c.1388T>G (p.Met463Arg)
|
rs1584914382
|
|
NM_000245.4(MET):c.1392+10T>G
|
rs2116784727
|
|
NM_000245.4(MET):c.1392+13T>G
|
|
|
NM_000245.4(MET):c.1392+17A>T
|
rs747447086
|
|
NM_000245.4(MET):c.1392+18G>C
|
rs2116784901
|
|
NM_000245.4(MET):c.1392+19T>C
|
rs2116784923
|
|
NM_000245.4(MET):c.1392+1G>T
|
rs1584914409
|
|
NM_000245.4(MET):c.1392+3A>C
|
|
|
NM_000245.4(MET):c.1392+3A>G
|
|
|
NM_000245.4(MET):c.1392+5G>A
|
rs386833405
|
|
NM_000245.4(MET):c.1392+6T>C
|
|
|
NM_000245.4(MET):c.1392+6T>G
|
rs1793022563
|
|
NM_000245.4(MET):c.1392+7G>A
|
|
|
NM_000245.4(MET):c.1392+9T>C
|
rs2116784701
|
|
NM_000245.4(MET):c.1393-10T>C
|
rs2116825333
|
|
NM_000245.4(MET):c.1393-12T>C
|
|
|
NM_000245.4(MET):c.1393-18A>G
|
|
|
NM_000245.4(MET):c.1393-19T>C
|
rs995271235
|
|
NM_000245.4(MET):c.1393-1G>T
|
rs1584921909
|
|
NM_000245.4(MET):c.1393-2A>T
|
rs1584921898
|
|
NM_000245.4(MET):c.1393-6G>C
|
rs202194405
|
|
NM_000245.4(MET):c.1393-8C>G
|
rs2116825376
|
|
NM_000245.4(MET):c.1393G>A (p.Val465Ile)
|
rs754969545
|
|
NM_000245.4(MET):c.1397T>C (p.Val466Ala)
|
|
|
NM_000245.4(MET):c.1399G>A (p.Val467Ile)
|
rs1004264326
|
|
NM_000245.4(MET):c.1399G>T (p.Val467Phe)
|
rs1004264326
|
|
NM_000245.4(MET):c.139A>T (p.Thr47Ser)
|
|
|
NM_000245.4(MET):c.1401T>G (p.Val467=)
|
rs2116825709
|
|
NM_000245.4(MET):c.1403C>G (p.Ser468Cys)
|
rs1793378040
|
|
NM_000245.4(MET):c.1403C>T (p.Ser468Phe)
|
rs1793378040
|
|
NM_000245.4(MET):c.1405C>T (p.Arg469Ter)
|
rs2116825789
|
|
NM_000245.4(MET):c.1406G>C (p.Arg469Pro)
|
rs752842662
|
|
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
|
|
|
NM_000245.4(MET):c.140C>A (p.Thr47Asn)
|
rs2116581323
|
|
NM_000245.4(MET):c.140C>T (p.Thr47Ile)
|
|
|
NM_000245.4(MET):c.1411G>A (p.Gly471Arg)
|
rs1207715563
|
|
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
|
|
|
NM_000245.4(MET):c.1415C>T (p.Pro472Leu)
|
rs1793379533
|
|
NM_000245.4(MET):c.1416A>G (p.Pro472=)
|
|
|
NM_000245.4(MET):c.1417T>C (p.Ser473Pro)
|
rs2116826038
|
|
NM_000245.4(MET):c.141C>A (p.Thr47=)
|
rs864622222
|
|
NM_000245.4(MET):c.141C>G (p.Thr47=)
|
rs864622222
|
|
NM_000245.4(MET):c.1420A>G (p.Thr474Ala)
|
rs1793379665
|
|
NM_000245.4(MET):c.1421C>A (p.Thr474Asn)
|
rs1554390902
|
|
NM_000245.4(MET):c.1421C>T (p.Thr474Ile)
|
rs1554390902
|
|
NM_000245.4(MET):c.1422C>T (p.Thr474=)
|
|
|
NM_000245.4(MET):c.1424C>T (p.Pro475Leu)
|
rs1793380035
|
|
NM_000245.4(MET):c.1427A>G (p.His476Arg)
|
|
|
NM_000245.4(MET):c.1428T>A (p.His476Gln)
|
rs1432416607
|
|
NM_000245.4(MET):c.1428T>C (p.His476=)
|
rs1432416607
|
|
NM_000245.4(MET):c.1430T>A (p.Val477Glu)
|
rs1197127761
|
|
NM_000245.4(MET):c.1430T>G (p.Val477Gly)
|
|
|
NM_000245.4(MET):c.1431G>A (p.Val477=)
|
|
|
NM_000245.4(MET):c.1436T>C (p.Phe479Ser)
|
rs1793380587
|
|
NM_000245.4(MET):c.1439T>C (p.Leu480Pro)
|
|
|
NM_000245.4(MET):c.143C>T (p.Ala48Val)
|
rs80256822
|
|
NM_000245.4(MET):c.1441C>A (p.Leu481Met)
|
rs1012909374
|
|
NM_000245.4(MET):c.1444G>T (p.Asp482Tyr)
|
|
|
NM_000245.4(MET):c.1445A>G (p.Asp482Gly)
|
|
|
NM_000245.4(MET):c.1447T>C (p.Ser483Pro)
|
rs1584922011
|
|
NM_000245.4(MET):c.1449C>T (p.Ser483=)
|
rs1458827441
|
|
NM_000245.4(MET):c.1453C>T (p.Pro485Ser)
|
rs1451954069
|
|
NM_000245.4(MET):c.1455A>G (p.Pro485=)
|
rs1554390925
|
|
NM_000245.4(MET):c.1456G>C (p.Val486Leu)
|
rs746334800
|
|
NM_000245.4(MET):c.145G>A (p.Glu49Lys)
|
rs1060503528
|
|
NM_000245.4(MET):c.1465G>A (p.Glu489Lys)
|
rs1391853762
|
|
NM_000245.4(MET):c.1469T>A (p.Val490Glu)
|
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000245.4(MET):c.1470G>C (p.Val490=)
|
rs1281860482
|
|
NM_000245.4(MET):c.1472T>C (p.Ile491Thr)
|
rs561588772
|
|
NM_000245.4(MET):c.1476G>T (p.Val492=)
|
rs528788133
|
|
NM_000245.4(MET):c.1477G>A (p.Glu493Lys)
|
rs965319455
|
|
NM_000245.4(MET):c.1479G>A (p.Glu493=)
|
rs1793383550
|
|
NM_000245.4(MET):c.1483A>C (p.Thr495Pro)
|
rs1793383674
|
|
NM_000245.4(MET):c.1484C>A (p.Thr495Lys)
|
rs45585831
|
|
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)
|
rs45585831
|
|
NM_000245.4(MET):c.1484C>T (p.Thr495Ile)
|
|
|
NM_000245.4(MET):c.1485A>C (p.Thr495=)
|
rs760256871
|
|
NM_000245.4(MET):c.1485A>G (p.Thr495=)
|
rs760256871
|
|
NM_000245.4(MET):c.1488A>G (p.Leu496=)
|
rs2116827541
|
|
NM_000245.4(MET):c.1489A>G (p.Asn497Asp)
|
rs766209435
|
|
NM_000245.4(MET):c.1496A>C (p.Asn499Thr)
|
rs1253878709
|
|
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)
|
rs1253878709
|
|
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
|
|
|
NM_000245.4(MET):c.1503C>T (p.Tyr501=)
|
rs2116827932
|
|
NM_000245.4(MET):c.1505C>T (p.Thr502Ile)
|
rs2116827998
|
|
NM_000245.4(MET):c.1506A>T (p.Thr502=)
|
|
|
NM_000245.4(MET):c.1507C>G (p.Leu503Val)
|
rs1417433919
|
|
NM_000245.4(MET):c.1508T>A (p.Leu503Gln)
|
rs1562908826
|
|
NM_000245.4(MET):c.1513A>T (p.Ile505Phe)
|
rs1584922200
|
|
NM_000245.4(MET):c.1515C>T (p.Ile505=)
|
rs1424420830
|
|
NM_000245.4(MET):c.1518T>C (p.Thr506=)
|
rs902884572
|
|
NM_000245.4(MET):c.151C>T (p.Pro51Ser)
|
rs758016814
|
|
NM_000245.4(MET):c.1522A>G (p.Lys508Glu)
|
|
|
NM_000245.4(MET):c.1523A>G (p.Lys508Arg)
|
|
|
NM_000245.4(MET):c.1523A>T (p.Lys508Met)
|
|
|
NM_000245.4(MET):c.1526A>T (p.Lys509Met)
|
|
|
NM_000245.4(MET):c.1527+11C>T
|
|
|
NM_000245.4(MET):c.1527+15C>A
|
rs757455983
|
|
NM_000245.4(MET):c.1527+15C>T
|
rs757455983
|
|
NM_000245.4(MET):c.1527+17G>A
|
rs746281781
|
|
NM_000245.4(MET):c.1527+18G>A
|
|
|
NM_000245.4(MET):c.1527+1G>A
|
rs1584922241
|
|
NM_000245.4(MET):c.1527+4A>G
|
rs1793387054
|
|
NM_000245.4(MET):c.1527+5G>A
|
|
|
NM_000245.4(MET):c.1527+6C>A
|
rs1793387165
|
|
NM_000245.4(MET):c.1527+6C>G
|
rs1793387165
|
|
NM_000245.4(MET):c.1528-10C>G
|
rs757448894
|
|
NM_000245.4(MET):c.1528-11T>C
|
|
|
NM_000245.4(MET):c.1528-13del
|
|
|
NM_000245.4(MET):c.1528-14C>T
|
rs2116833406
|
|
NM_000245.4(MET):c.1528-16C>T
|
|
|
NM_000245.4(MET):c.1528-19C>T
|
|
|
NM_000245.4(MET):c.1528-20T>C
|
|
|
NM_000245.4(MET):c.1528-20T>G
|
|
|
NM_000245.4(MET):c.1528-7T>G
|
|
|
NM_000245.4(MET):c.1528-8C>T
|
|
|
NM_000245.4(MET):c.1528-9T>A
|
|
|
NM_000245.4(MET):c.1531A>T (p.Thr511Ser)
|
rs1181927481
|
|
NM_000245.4(MET):c.1533G>C (p.Thr511=)
|
|
|
NM_000245.4(MET):c.1535A>C (p.Lys512Thr)
|
rs1793417875
|
|
NM_000245.4(MET):c.1538T>A (p.Ile513Asn)
|
rs1584923080
|
|
NM_000245.4(MET):c.1538T>C (p.Ile513Thr)
|
rs1584923080
|
|
NM_000245.4(MET):c.1539C>A (p.Ile513=)
|
|
|
NM_000245.4(MET):c.1540C>G (p.Pro514Ala)
|
rs756526057
|
|
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
|
|
|
NM_000245.4(MET):c.1541C>A (p.Pro514Gln)
|
rs1793418567
|
|
NM_000245.4(MET):c.1542A>G (p.Pro514=)
|
rs1584923096
|
|
NM_000245.4(MET):c.1545G>C (p.Leu515Phe)
|
rs1554391227
|
|
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
|
|
|
NM_000245.4(MET):c.1548T>C (p.Asn516=)
|
rs1554391232
|
|
NM_000245.4(MET):c.1550G>C (p.Gly517Ala)
|
|
|
NM_000245.4(MET):c.1552T>C (p.Leu518=)
|
rs780293990
|
|
NM_000245.4(MET):c.1553T>C (p.Leu518Ser)
|
rs2116834331
|
|
NM_000245.4(MET):c.1555G>A (p.Gly519Ser)
|
|
|
NM_000245.4(MET):c.1560C>A (p.Cys520Ter)
|
rs1584923132
|
|
NM_000245.4(MET):c.1561A>G (p.Arg521Gly)
|
rs1176112251
|
|
NM_000245.4(MET):c.1563A>G (p.Arg521=)
|
rs755470995
|
|
NM_000245.4(MET):c.1568T>C (p.Phe523Ser)
|
rs1793420216
|
|
NM_000245.4(MET):c.1568T>G (p.Phe523Cys)
|
rs1793420216
|
|
NM_000245.4(MET):c.1569C>G (p.Phe523Leu)
|
|
|
NM_000245.4(MET):c.1570C>G (p.Gln524Glu)
|
rs2116834835
|
|
NM_000245.4(MET):c.1571A>T (p.Gln524Leu)
|
rs1584923162
|
|
NM_000245.4(MET):c.1572G>C (p.Gln524His)
|
|
|
NM_000245.4(MET):c.157C>A (p.Gln53Lys)
|
|
|
NM_000245.4(MET):c.1580G>A (p.Ser527Asn)
|
rs1328454755
|
|
NM_000245.4(MET):c.1582C>T (p.Gln528Ter)
|
|
|
NM_000245.4(MET):c.1587C>T (p.Cys529=)
|
|
|
NM_000245.4(MET):c.158A>G (p.Gln53Arg)
|
rs1002286461
|
|
NM_000245.4(MET):c.1590C>A (p.Leu530=)
|
|
|
NM_000245.4(MET):c.1590C>G (p.Leu530=)
|
|
|
NM_000245.4(MET):c.1593T>G (p.Ser531=)
|
|
|
NM_000245.4(MET):c.1594G>A (p.Ala532Thr)
|
rs1793421596
|
|
NM_000245.4(MET):c.1597C>A (p.Pro533Thr)
|
rs1793422040
|
|
NM_000245.4(MET):c.1598C>T (p.Pro533Leu)
|
rs2116835610
|
|
NM_000245.4(MET):c.159G>A (p.Gln53=)
|
|
|
NM_000245.4(MET):c.159G>C (p.Gln53His)
|
rs1791464303
|
|
NM_000245.4(MET):c.1600C>T (p.Pro534Ser)
|
rs200283364
|
|
NM_000245.4(MET):c.1601C>T (p.Pro534Leu)
|
rs1793422444
|
|
NM_000245.4(MET):c.1602C>A (p.Pro534=)
|
rs1554391268
|
|
NM_000245.4(MET):c.1602C>T (p.Pro534=)
|
|
|
NM_000245.4(MET):c.1603T>C (p.Phe535Leu)
|
rs1793422722
|
|
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
|
|
|
NM_000245.4(MET):c.1611G>A (p.Gln537=)
|
|
|
NM_000245.4(MET):c.1612T>C (p.Cys538Arg)
|
|
|
NM_000245.4(MET):c.1617C>G (p.Gly539=)
|
rs776490266
|
|
NM_000245.4(MET):c.161A>G (p.Asn54Ser)
|
|
|
NM_000245.4(MET):c.1622G>C (p.Cys541Ser)
|
rs2116836106
|
|
NM_000245.4(MET):c.1623C>G (p.Cys541Trp)
|
|
|
NM_000245.4(MET):c.1625A>G (p.His542Arg)
|
|
|
NM_000245.4(MET):c.1626C>A (p.His542Gln)
|
rs762898756
|
|
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)
|
rs763991073
|
|
NM_000245.4(MET):c.1627G>C (p.Asp543His)
|
|
|
NM_000245.4(MET):c.1629C>T (p.Asp543=)
|
rs2116836336
|
|
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
|
|
|
NM_000245.4(MET):c.1636G>C (p.Val546Leu)
|
|
|
NM_000245.4(MET):c.1637T>A (p.Val546Glu)
|
rs993463693
|
|
NM_000245.4(MET):c.1638G>A (p.Val546=)
|
rs1240760202
|
|
NM_000245.4(MET):c.1639C>T (p.Arg547Ter)
|
rs1047795344
|
|
NM_000245.4(MET):c.1640G>C (p.Arg547Pro)
|
rs761951444
|
|
NM_000245.4(MET):c.1641A>C (p.Arg547=)
|
rs1554391313
|
|
NM_000245.4(MET):c.1643C>G (p.Ser548Trp)
|
|
|
NM_000245.4(MET):c.1645G>A (p.Glu549Lys)
|
|
|
NM_000245.4(MET):c.1646A>G (p.Glu549Gly)
|
|
|
NM_000245.4(MET):c.1647G>A (p.Glu549=)
|
rs1584923365
|
|
NM_000245.4(MET):c.1650A>G (p.Glu550=)
|
rs2116836870
|
|
NM_000245.4(MET):c.1654C>T (p.Leu552=)
|
|
|
NM_000245.4(MET):c.1655T>C (p.Leu552Pro)
|
rs2116837022
|
|
NM_000245.4(MET):c.1656G>A (p.Leu552=)
|
|
|
NM_000245.4(MET):c.1657A>T (p.Ser553Cys)
|
|
|
NM_000245.4(MET):c.1661G>C (p.Gly554Ala)
|
|
|
NM_000245.4(MET):c.1665A>G (p.Thr555=)
|
rs1554391336
|
|
NM_000245.4(MET):c.1665A>T (p.Thr555=)
|
rs1554391336
|
|
NM_000245.4(MET):c.166A>G (p.Ile56Val)
|
rs746806941
|
|
NM_000245.4(MET):c.1670C>T (p.Thr557Ile)
|
rs1584923423
|
|
NM_000245.4(MET):c.1671T>C (p.Thr557=)
|
rs2116837479
|
|
NM_000245.4(MET):c.1676A>G (p.Gln559Arg)
|
rs45460604
|
|
NM_000245.4(MET):c.1677G>A (p.Gln559=)
|
rs1290346524
|
|
NM_000245.4(MET):c.1678A>G (p.Ile560Val)
|
rs1351634349
|
|
NM_000245.4(MET):c.1682G>C (p.Cys561Ser)
|
|
|
NM_000245.4(MET):c.1686G>C (p.Leu562=)
|
rs2116837926
|
|
NM_000245.4(MET):c.1687C>T (p.Pro563Ser)
|
|
|
NM_000245.4(MET):c.1689T>C (p.Pro563=)
|
rs1282444375
|
|
NM_000245.4(MET):c.1692A>C (p.Ala564=)
|
|
|
NM_000245.4(MET):c.1692A>G (p.Ala564=)
|
rs780855618
|
|
NM_000245.4(MET):c.1694T>C (p.Ile565Thr)
|
rs1584923517
|
|
NM_000245.4(MET):c.1696T>G (p.Tyr566Asp)
|
|
|
NM_000245.4(MET):c.16G>A (p.Val6Met)
|
|
|
NM_000245.4(MET):c.16G>T (p.Val6Leu)
|
rs1395233386
|
|
NM_000245.4(MET):c.1700A>G (p.Lys567Arg)
|
rs1793429138
|
|
NM_000245.4(MET):c.1701+11_1701+12del
|
rs2116838472
|
|
NM_000245.4(MET):c.1701+12T>C
|
rs2116838554
|
|
NM_000245.4(MET):c.1701+14dup
|
rs1295548832
|
|
NM_000245.4(MET):c.1701+15C>T
|
|
|
NM_000245.4(MET):c.1701+16A>G
|
|
|
NM_000245.4(MET):c.1701+18C>T
|
|
|
NM_000245.4(MET):c.1701+20G>A
|
|
|
NM_000245.4(MET):c.1701+3A>C
|
rs779880717
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+59G>T
|
rs759007523
|
|
NM_000245.4(MET):c.1701G>C (p.Lys567Asn)
|
rs1793429265
|
|
NM_000245.4(MET):c.1701G>T (p.Lys567Asn)
|
|
|
NM_000245.4(MET):c.1702-10G>A
|
rs2116908387
|
|
NM_000245.4(MET):c.1702-11T>C
|
|
|
NM_000245.4(MET):c.1702-11del
|
|
|
NM_000245.4(MET):c.1702-13G>A
|
|
|
NM_000245.4(MET):c.1702-15A>C
|
rs200635057
|
|
NM_000245.4(MET):c.1702-15A>G
|
|
|
NM_000245.4(MET):c.1702-17C>G
|
|
|
NM_000245.4(MET):c.1702-17C>T
|
|
|
NM_000245.4(MET):c.1702-18T>A
|
|
|
NM_000245.4(MET):c.1702-18T>G
|
|
|
NM_000245.4(MET):c.1702-1G>C
|
rs747390610
|
|
NM_000245.4(MET):c.1702-5T>A
|
|
|
NM_000245.4(MET):c.1702-8C>T
|
rs1554394916
|
|
NM_000245.4(MET):c.1703T>C (p.Val568Ala)
|
|
|
NM_000245.4(MET):c.1713T>C (p.Asn571=)
|
|
|
NM_000245.4(MET):c.1715G>T (p.Ser572Ile)
|
|
|
NM_000245.4(MET):c.1716T>C (p.Ser572=)
|
rs1382410716
|
|
NM_000245.4(MET):c.1717G>A (p.Ala573Thr)
|
|
|
NM_000245.4(MET):c.1718C>T (p.Ala573Val)
|
rs1429917144
|
|
NM_000245.4(MET):c.1719A>C (p.Ala573=)
|
rs199776656
|
|
NM_000245.4(MET):c.1722C>A (p.Pro574=)
|
rs1562920359
|
|
NM_000245.4(MET):c.1722C>T (p.Pro574=)
|
rs1562920359
|
|
NM_000245.4(MET):c.172C>A (p.His58Asn)
|
rs1791464742
|
|
NM_000245.4(MET):c.1730G>A (p.Gly577Glu)
|
|
|
NM_000245.4(MET):c.1731A>C (p.Gly577=)
|
rs2116909048
|
|
NM_000245.4(MET):c.1732G>A (p.Gly578Arg)
|
rs1584939128
|
|
NM_000245.4(MET):c.1734G>A (p.Gly578=)
|
rs2116909104
|
|
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
|
|
|
NM_000245.4(MET):c.1736C>T (p.Thr579Ile)
|
|
|
NM_000245.4(MET):c.1740G>T (p.Arg580Ser)
|
rs1182994959
|
|
NM_000245.4(MET):c.1741C>G (p.Leu581Val)
|
|
|
NM_000245.4(MET):c.1741C>T (p.Leu581=)
|
rs1584939151
|
|
NM_000245.4(MET):c.1745C>T (p.Thr582Ile)
|
|
|
NM_000245.4(MET):c.1746C>T (p.Thr582=)
|
rs2116909310
|
|
NM_000245.4(MET):c.1747A>G (p.Ile583Val)
|
|
|
NM_000245.4(MET):c.174T>C (p.His58=)
|
rs1554378291
|
|
NM_000245.4(MET):c.174T>G (p.His58Gln)
|
rs1554378291
|
|
NM_000245.4(MET):c.1752T>C (p.Cys584=)
|
rs2116909383
|
|
NM_000245.4(MET):c.1758G>T (p.Trp586Cys)
|
rs1562920414
|
|
NM_000245.4(MET):c.1764T>C (p.Phe588=)
|
rs2116909571
|
|
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
|
|
|
NM_000245.4(MET):c.176A>G (p.Glu59Gly)
|
rs1554378297
|
|
NM_000245.4(MET):c.1770T>G (p.Phe590Leu)
|
rs199542598
|
|
NM_000245.4(MET):c.1773G>A (p.Arg591=)
|
|
|
NM_000245.4(MET):c.1776G>C (p.Arg592Ser)
|
|
|
NM_000245.4(MET):c.1780A>G (p.Asn594Asp)
|
rs1794141895
|
|
NM_000245.4(MET):c.1784A>C (p.Lys595Thr)
|
rs1584939204
|
|
NM_000245.4(MET):c.1787T>A (p.Phe596Tyr)
|
rs1330648228
|
|
NM_000245.4(MET):c.1789G>C (p.Asp597His)
|
rs769073123
|
|
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr)
|
rs769073123
|
|
NM_000245.4(MET):c.1791T>C (p.Asp597=)
|
|
|
NM_000245.4(MET):c.1794A>G (p.Leu598=)
|
rs2116910054
|
|
NM_000245.4(MET):c.1795A>G (p.Lys599Glu)
|
rs2116910086
|
|
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
|
|
|
NM_000245.4(MET):c.1799A>C (p.Lys600Thr)
|
|
|
NM_000245.4(MET):c.179A>G (p.His60Arg)
|
rs776426414
|
|
NM_000245.4(MET):c.17T>G (p.Val6Gly)
|
|
|
NM_000245.4(MET):c.1801A>G (p.Thr601Ala)
|
rs1216005099
|
|
NM_000245.4(MET):c.1803T>C (p.Thr601=)
|
rs763481809
|
|
NM_000245.4(MET):c.1805G>A (p.Arg602Lys)
|
rs1484732727
|
|
NM_000245.4(MET):c.1807G>A (p.Val603Ile)
|
rs2116910262
|
|
NM_000245.4(MET):c.1810C>A (p.Leu604Ile)
|
rs201861645
|
|
NM_000245.4(MET):c.1812_1814del (p.Leu605del)
|
rs1060503535
|
|
NM_000245.4(MET):c.1813C>T (p.Leu605Phe)
|
rs774945178
|
|
NM_000245.4(MET):c.1819A>C (p.Asn607His)
|
|
|
NM_000245.4(MET):c.181C>G (p.His61Asp)
|
rs368942722
|
|
NM_000245.4(MET):c.1820A>G (p.Asn607Ser)
|
rs2116910444
|
|
NM_000245.4(MET):c.1821T>A (p.Asn607Lys)
|
rs762389147
|
|
NM_000245.4(MET):c.1821T>C (p.Asn607=)
|
|
|
NM_000245.4(MET):c.1822G>A (p.Glu608Lys)
|
rs2116910480
|
|
NM_000245.4(MET):c.1824G>A (p.Glu608=)
|
rs2116910513
|
|
NM_000245.4(MET):c.1824G>C (p.Glu608Asp)
|
|
|
NM_000245.4(MET):c.1825A>G (p.Ser609Gly)
|
|
|
NM_000245.4(MET):c.1826G>A (p.Ser609Asn)
|
rs1554394973
|
|
NM_000245.4(MET):c.1832C>A (p.Thr611Asn)
|
|
|
NM_000245.4(MET):c.1833C>A (p.Thr611=)
|
rs924927810
|
|
NM_000245.4(MET):c.1838C>A (p.Thr613Asn)
|
rs1258088041
|
|
NM_000245.4(MET):c.1844G>A (p.Ser615Asn)
|
rs1794144964
|
|
NM_000245.4(MET):c.1845T>C (p.Ser615=)
|
rs2116910884
|
|
NM_000245.4(MET):c.1848G>C (p.Glu616Asp)
|
rs2116910921
|
|
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys)
|
rs1794145066
|
|
NM_000245.4(MET):c.1849A>G (p.Ser617Gly)
|
|
|
NM_000245.4(MET):c.1850G>A (p.Ser617Asn)
|
rs1481812764
|
|
NM_000245.4(MET):c.1857G>A (p.Met619Ile)
|
|
|
NM_000245.4(MET):c.1859A>G (p.Asn620Ser)
|
rs2116911133
|
|
NM_000245.4(MET):c.1860T>C (p.Asn620=)
|
|
|
NM_000245.4(MET):c.1862+12A>G
|
|
|
NM_000245.4(MET):c.1862+15dup
|
rs768074029
|
|
NM_000245.4(MET):c.1862+1G>A
|
rs1013431413
|
|
NM_000245.4(MET):c.1862+7A>C
|
|
|
NM_000245.4(MET):c.1862+8T>A
|
|
|
NM_000245.4(MET):c.1862+8T>C
|
|
|
NM_000245.4(MET):c.1863-11T>C
|
rs2116919514
|
|
NM_000245.4(MET):c.1863-13G>C
|
rs764856420
|
|
NM_000245.4(MET):c.1863-13G>T
|
|
|
NM_000245.4(MET):c.1863-16T>C
|
rs759151928
|
|
NM_000245.4(MET):c.1863-17_1863-16del
|
|
|
NM_000245.4(MET):c.1863-18T>C
|
|
|
NM_000245.4(MET):c.1863-19C>T
|
|
|
NM_000245.4(MET):c.1863-2A>G
|
rs1370688649
|
|
NM_000245.4(MET):c.1863-5T>C
|
rs751421114
|
|
NM_000245.4(MET):c.1863-5del
|
rs766900241
|
|
NM_000245.4(MET):c.1863-5dup
|
rs766900241
|
|
NM_000245.4(MET):c.1863-7T>C
|
rs763829971
|
|
NM_000245.4(MET):c.1863-7T>G
|
rs763829971
|
|
NM_000245.4(MET):c.1863A>G (p.Thr621=)
|
rs1794219866
|
|
NM_000245.4(MET):c.1865T>G (p.Leu622Trp)
|
rs1794220084
|
|
NM_000245.4(MET):c.1866G>C (p.Leu622Phe)
|
rs1562921668
|
|
NM_000245.4(MET):c.1868A>G (p.Lys623Arg)
|
rs2116919726
|
|
NM_000245.4(MET):c.1869A>G (p.Lys623=)
|
|
|
NM_000245.4(MET):c.186T>A (p.Ile62=)
|
rs2116582418
|
|
NM_000245.4(MET):c.1871G>T (p.Cys624Phe)
|
rs1794220294
|
|
NM_000245.4(MET):c.1872C>T (p.Cys624=)
|
|
|
NM_000245.4(MET):c.1874C>T (p.Thr625Ile)
|
|
|
NM_000245.4(MET):c.1875A>T (p.Thr625=)
|
|
|
NM_000245.4(MET):c.1877T>C (p.Val626Ala)
|
|
|
NM_000245.4(MET):c.1879G>T (p.Gly627Cys)
|
rs2116919915
|
|
NM_000245.4(MET):c.1880G>A (p.Gly627Asp)
|
|
|
NM_000245.4(MET):c.1881T>G (p.Gly627=)
|
rs200050499
|
|
NM_000245.4(MET):c.1890G>A (p.Met630Ile)
|
|
|
NM_000245.4(MET):c.1890G>T (p.Met630Ile)
|
rs756209410
|
|
NM_000245.4(MET):c.1891A>G (p.Asn631Asp)
|
|
|
NM_000245.4(MET):c.1892A>G (p.Asn631Ser)
|
|
|
NM_000245.4(MET):c.1893T>G (p.Asn631Lys)
|
rs1250868411
|
|
NM_000245.4(MET):c.1896G>A (p.Lys632=)
|
rs749484691
|
|
NM_000245.4(MET):c.1896G>T (p.Lys632Asn)
|
rs749484691
|
|
NM_000245.4(MET):c.1897C>T (p.His633Tyr)
|
|
|
NM_000245.4(MET):c.1898A>T (p.His633Leu)
|
rs45586239
|
|
NM_000245.4(MET):c.1902C>G (p.Phe634Leu)
|
rs772450441
|
|
NM_000245.4(MET):c.190C>G (p.Leu64Val)
|
rs1791466070
|
|
NM_000245.4(MET):c.1911C>T (p.Ser637=)
|
rs2116920428
|
|
NM_000245.4(MET):c.1912A>G (p.Ile638Val)
|
rs1060503536
|
|
NM_000245.4(MET):c.1912A>T (p.Ile638Leu)
|
rs1060503536
|
|
NM_000245.4(MET):c.1913T>C (p.Ile638Thr)
|
rs1554395371
|
|
NM_000245.4(MET):c.1923A>G (p.Ser641=)
|
|
|
NM_000245.4(MET):c.1924A>C (p.Asn642His)
|
|
|
NM_000245.4(MET):c.1927G>T (p.Gly643Cys)
|
|
|
NM_000245.4(MET):c.1928G>A (p.Gly643Asp)
|
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.1934G>A (p.Gly645Glu)
|
|
|
NM_000245.4(MET):c.1936A>G (p.Thr646Ala)
|
|
|
NM_000245.4(MET):c.1937C>T (p.Thr646Ile)
|
rs751307227
|
|
NM_000245.4(MET):c.1938A>G (p.Thr646=)
|
rs2116920903
|
|
NM_000245.4(MET):c.1938A>T (p.Thr646=)
|
|
|
NM_000245.4(MET):c.1939A>G (p.Thr647Ala)
|
|
|
NM_000245.4(MET):c.1944_1945delinsGC (p.Tyr649His)
|
|
|
NM_000245.4(MET):c.1945T>C (p.Tyr649His)
|
|
|
NM_000245.4(MET):c.1952C>T (p.Thr651Ile)
|
rs2116921189
|
|
NM_000245.4(MET):c.1953A>G (p.Thr651=)
|
rs2116921218
|
|
NM_000245.4(MET):c.1958C>T (p.Ser653Phe)
|
rs1554395395
|
|
NM_000245.4(MET):c.1958_1960del (p.Ser653del)
|
rs1430652609
|
|
NM_000245.4(MET):c.1961A>G (p.Tyr654Cys)
|
rs1554395399
|
|
NM_000245.4(MET):c.1965+10_1965+11insAA
|
rs754083112
|
|
NM_000245.4(MET):c.1965+11T>C
|
|
|
NM_000245.4(MET):c.1965+11T>G
|
rs780230492
|
|
NM_000245.4(MET):c.1965+19_1965+20insTACCAAAA
|
|
|
NM_000245.4(MET):c.1965+20A>G
|
rs587777952
|
|
NM_000245.4(MET):c.1965+4A>C
|
rs1362532895
|
|
NM_000245.4(MET):c.1965+7A>G
|
rs2116921524
|
|
NM_000245.4(MET):c.1965+9G>A
|
rs2116921566
|
|
NM_000245.4(MET):c.1966-11C>T
|
rs2116922731
|
|
NM_000245.4(MET):c.1966-13A>T
|
rs767305539
|
|
NM_000245.4(MET):c.1966-16T>C
|
|
|
NM_000245.4(MET):c.1966-3C>T
|
|
|
NM_000245.4(MET):c.1966-7C>A
|
|
|
NM_000245.4(MET):c.1966-7C>T
|
|
|
NM_000245.4(MET):c.1966-8C>G
|
|
|
NM_000245.4(MET):c.1968T>A (p.Asp656Glu)
|
|
|
NM_000245.4(MET):c.1968T>C (p.Asp656=)
|
|
|
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
|
|
|
NM_000245.4(MET):c.1971T>C (p.Pro657=)
|
|
|
NM_000245.4(MET):c.1972G>C (p.Val658Leu)
|
rs587778446
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
NM_000245.4(MET):c.1974A>G (p.Val658=)
|
|
|
NM_000245.4(MET):c.1977A>G (p.Ile659Met)
|
rs1794236479
|
|
NM_000245.4(MET):c.1979C>A (p.Thr660Lys)
|
|
|
NM_000245.4(MET):c.1979C>T (p.Thr660Ile)
|
rs1584941563
|
|
NM_000245.4(MET):c.1982G>A (p.Ser661Asn)
|
rs755139610
|
|
NM_000245.4(MET):c.1989G>C (p.Ser663=)
|
|
|
NM_000245.4(MET):c.1989G>T (p.Ser663=)
|
rs201180585
|
|
NM_000245.4(MET):c.1990C>T (p.Pro664Ser)
|
|
|
NM_000245.4(MET):c.1991C>T (p.Pro664Leu)
|
rs1367341975
|
|
NM_000245.4(MET):c.1992G>T (p.Pro664=)
|
|
|
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
|
|
|
NM_000245.4(MET):c.1995A>G (p.Lys665=)
|
rs2116923469
|
|
NM_000245.4(MET):c.1998C>A (p.Tyr666Ter)
|
rs566540058
|
|
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
|
|
|
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
|
|
|
NM_000245.4(MET):c.1999_2018del (p.Gly667fs)
|
rs2116923507
|
|
NM_000245.4(MET):c.199A>T (p.Thr67Ser)
|
rs202047059
|
|
NM_000245.4(MET):c.2005A>G (p.Met669Val)
|
rs1344902873
|
|
NM_000245.4(MET):c.2007G>T (p.Met669Ile)
|
|
|
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
|
|
|
NM_000245.4(MET):c.2015G>A (p.Gly672Asp)
|
rs2116923826
|
|
NM_000245.4(MET):c.2016C>T (p.Gly672=)
|
rs768149852
|
|
NM_000245.4(MET):c.2018C>G (p.Thr673Ser)
|
rs1401138460
|
|
NM_000245.4(MET):c.2018C>T (p.Thr673Ile)
|
|
|
NM_000245.4(MET):c.2027C>A (p.Thr676Asn)
|
rs2116924095
|
|
NM_000245.4(MET):c.2027C>T (p.Thr676Ile)
|
|
|
NM_000245.4(MET):c.2034T>G (p.Thr678=)
|
rs773107496
|
|
NM_000245.4(MET):c.2037A>G (p.Gly679=)
|
|
|
NM_000245.4(MET):c.2043C>G (p.Tyr681Ter)
|
rs1354964885
|
|
NM_000245.4(MET):c.2045T>G (p.Leu682Arg)
|
|
|
NM_000245.4(MET):c.2046A>C (p.Leu682=)
|
rs760609715
|
|
NM_000245.4(MET):c.204C>T (p.Asn68=)
|
|
|
NM_000245.4(MET):c.2050A>G (p.Ser684Gly)
|
rs1554395462
|
|
NM_000245.4(MET):c.2055G>T (p.Gly685=)
|
rs766401668
|
|
NM_000245.4(MET):c.2059T>C (p.Ser687Pro)
|
rs1562922167
|
|
NM_000245.4(MET):c.2061T>C (p.Ser687=)
|
rs776651937
|
|
NM_000245.4(MET):c.2062A>G (p.Arg688Gly)
|
rs1584941772
|
|
NM_000245.4(MET):c.2065C>T (p.His689Tyr)
|
rs1794244388
|
|
NM_000245.4(MET):c.2070T>C (p.Ile690=)
|
rs759396158
|
|
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
|
|
|
NM_000245.4(MET):c.2074A>G (p.Ile692Val)
|
|
|
NM_000245.4(MET):c.2075T>C (p.Ile692Thr)
|
rs1183432579
|
|
NM_000245.4(MET):c.2078G>A (p.Gly693Asp)
|
|
|
NM_000245.4(MET):c.2079T>A (p.Gly693=)
|
rs1584941818
|
|
NM_000245.4(MET):c.2079T>C (p.Gly693=)
|
rs1584941818
|
|
NM_000245.4(MET):c.207C>T (p.Tyr69=)
|
rs1454856933
|
|
NM_000245.4(MET):c.2080G>A (p.Gly694Arg)
|
rs2116925025
|
|
NM_000245.4(MET):c.2081G>A (p.Gly694Glu)
|
rs1584941830
|
|
NM_000245.4(MET):c.2082A>C (p.Gly694=)
|
rs1156480798
|
|
NM_000245.4(MET):c.2082A>T (p.Gly694=)
|
|
|
NM_000245.4(MET):c.2086del (p.Thr696fs)
|
rs1794245712
|
|
NM_000245.4(MET):c.2087C>T (p.Thr696Ile)
|
|
|
NM_000245.4(MET):c.2088A>G (p.Thr696=)
|
rs201378674
|
|
NM_000245.4(MET):c.2088A>T (p.Thr696=)
|
rs201378674
|
|
NM_000245.4(MET):c.208A>G (p.Ile70Val)
|
rs2116582927
|
|
NM_000245.4(MET):c.2091T>C (p.Cys697=)
|
|
|
NM_000245.4(MET):c.2092A>G (p.Thr698Ala)
|
rs1794246284
|
|
NM_000245.4(MET):c.2099A>G (p.Lys700Arg)
|
rs751907602
|
|
NM_000245.4(MET):c.2100A>C (p.Lys700Asn)
|
rs1794246923
|
|
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
|
|
|
NM_000245.4(MET):c.2102+16T>G
|
|
|
NM_000245.4(MET):c.2102+20del
|
|
|
NM_000245.4(MET):c.2102+4T>C
|
rs200601372
|
|
NM_000245.4(MET):c.2102+5T>A
|
rs1794247110
|
|
NM_000245.4(MET):c.2102+5T>G
|
rs1794247110
|
|
NM_000245.4(MET):c.2102+6G>T
|
rs757561412
|
|
NM_000245.4(MET):c.2102+9A>C
|
|
|
NM_000245.4(MET):c.2103-15del
|
rs1164805994
|
|
NM_000245.4(MET):c.2103-16A>G
|
|
|
NM_000245.4(MET):c.2103-16_2103-11dup
|
|
|
NM_000245.4(MET):c.2103-1G>T
|
rs1336351205
|
|
NM_000245.4(MET):c.2103-20_2103-17del
|
rs2116929536
|
|
NM_000245.4(MET):c.2103-2A>T
|
rs1470403316
|
|
NM_000245.4(MET):c.2103-3C>T
|
rs1431679847
|
|
NM_000245.4(MET):c.2103-6G>A
|
rs1475118987
|
|
NM_000245.4(MET):c.2103-7del
|
rs761227260
|
|
NM_000245.4(MET):c.2103-7dup
|
rs761227260
|
|
NM_000245.4(MET):c.2103-8_2103-7del
|
rs761227260
|
|
NM_000245.4(MET):c.2103-9T>C
|
|
|
NM_000245.4(MET):c.2103-9T>G
|
rs763948315
|
|
NM_000245.4(MET):c.2103T>C (p.Ser701=)
|
rs1554395656
|
|
NM_000245.4(MET):c.2104G>C (p.Val702Leu)
|
rs1485891606
|
|
NM_000245.4(MET):c.2105T>C (p.Val702Ala)
|
|
|
NM_000245.4(MET):c.2110A>T (p.Asn704Tyr)
|
|
|
NM_000245.4(MET):c.2111A>G (p.Asn704Ser)
|
rs1794272939
|
|
NM_000245.4(MET):c.2112C>A (p.Asn704Lys)
|
rs1458912347
|
|
NM_000245.4(MET):c.2114G>A (p.Ser705Asn)
|
rs1003586623
|
|
NM_000245.4(MET):c.2120T>C (p.Leu707Pro)
|
|
|
NM_000245.4(MET):c.2122G>A (p.Glu708Lys)
|
rs2116930184
|
|
NM_000245.4(MET):c.2126G>A (p.Cys709Tyr)
|
rs1554395668
|
|
NM_000245.4(MET):c.212A>G (p.Tyr71Cys)
|
rs1260635670
|
|
NM_000245.4(MET):c.2134C>G (p.Pro712Ala)
|
|
|
NM_000245.4(MET):c.2137G>A (p.Ala713Thr)
|
|
|
NM_000245.4(MET):c.2144C>A (p.Thr715Asn)
|
rs1554395680
|
|
NM_000245.4(MET):c.2145C>A (p.Thr715=)
|
rs1584942689
|
|
NM_000245.4(MET):c.2145C>T (p.Thr715=)
|
rs1584942689
|
|
NM_000245.4(MET):c.2146A>G (p.Ile716Val)
|
|
|
NM_000245.4(MET):c.2147T>C (p.Ile716Thr)
|
|
|
NM_000245.4(MET):c.214G>A (p.Val72Ile)
|
rs762253815
|
|
NM_000245.4(MET):c.2153C>G (p.Thr718Ser)
|
|
|
NM_000245.4(MET):c.2157G>A (p.Glu719=)
|
rs2116930988
|
|
NM_000245.4(MET):c.2159T>A (p.Phe720Tyr)
|
rs2116931016
|
|
NM_000245.4(MET):c.2160T>A (p.Phe720Leu)
|
|
|
NM_000245.4(MET):c.2160T>C (p.Phe720=)
|
|
|
NM_000245.4(MET):c.2161G>T (p.Ala721Ser)
|
|
|
NM_000245.4(MET):c.2163T>A (p.Ala721=)
|
rs2116931078
|
|
NM_000245.4(MET):c.2166T>G (p.Val722=)
|
rs2116931135
|
|
NM_000245.4(MET):c.2168A>C (p.Lys723Thr)
|
rs1554395688
|
|
NM_000245.4(MET):c.2169A>G (p.Lys723=)
|
|
|
NM_000245.4(MET):c.2175A>G (p.Lys725=)
|
|
|
NM_000245.4(MET):c.2176A>G (p.Ile726Val)
|
rs1794275336
|
|
NM_000245.4(MET):c.2178T>C (p.Ile726=)
|
|
|
NM_000245.4(MET):c.2180A>C (p.Asp727Ala)
|
|
|
NM_000245.4(MET):c.2181C>T (p.Asp727=)
|
rs1487292146
|
|
NM_000245.4(MET):c.2185G>A (p.Ala729Thr)
|
|
|
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
|
|
|
NM_000245.4(MET):c.2190C>G (p.Asn730Lys)
|
rs2116931541
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
NM_000245.4(MET):c.2195A>C (p.Glu732Ala)
|
rs1794276426
|
|
NM_000245.4(MET):c.21T>G (p.Leu7=)
|
rs2116578054
|
|
NM_000245.4(MET):c.2200A>C (p.Ser734Arg)
|
rs754228039
|
|
NM_000245.4(MET):c.2200A>G (p.Ser734Gly)
|
rs754228039
|
|
NM_000245.4(MET):c.2201G>A (p.Ser734Asn)
|
|
|
NM_000245.4(MET):c.2202C>T (p.Ser734=)
|
|
|
NM_000245.4(MET):c.2203A>G (p.Ile735Val)
|
rs1398648043
|
|
NM_000245.4(MET):c.2204dup (p.Phe736fs)
|
rs2116931908
|
|
NM_000245.4(MET):c.2205C>T (p.Ile735=)
|
rs1584942785
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
NM_000245.4(MET):c.2210G>A (p.Ser737Asn)
|
rs879254333
|
|
NM_000245.4(MET):c.2213A>C (p.Tyr738Ser)
|
rs2116932101
|
|
NM_000245.4(MET):c.2214C>T (p.Tyr738=)
|
|
|
NM_000245.4(MET):c.2215C>G (p.Arg739Gly)
|
rs45587940
|
|
NM_000245.4(MET):c.2216G>T (p.Arg739Leu)
|
|
|
NM_000245.4(MET):c.2218G>C (p.Glu740Gln)
|
|
|
NM_000245.4(MET):c.2220A>C (p.Glu740Asp)
|
rs1554395720
|
|
NM_000245.4(MET):c.2220A>G (p.Glu740=)
|
rs1554395720
|
|
NM_000245.4(MET):c.2225C>T (p.Pro742Leu)
|
|
|
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
|
|
|
NM_000245.4(MET):c.222T>A (p.Asn74Lys)
|
rs767934760
|
|
NM_000245.4(MET):c.222T>C (p.Asn74=)
|
rs767934760
|
|
NM_000245.4(MET):c.2231T>C (p.Val744Ala)
|
|
|
NM_000245.4(MET):c.2232C>G (p.Val744=)
|
rs1060504944
|
|
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
|
|
|
NM_000245.4(MET):c.2234A>T (p.Tyr745Phe)
|
rs1794278950
|
|
NM_000245.4(MET):c.2238A>T (p.Glu746Asp)
|
rs2116932511
|
|
NM_000245.4(MET):c.2242C>A (p.His748Asn)
|
rs2116932590
|
|
NM_000245.4(MET):c.2243A>G (p.His748Arg)
|
|
|
NM_000245.4(MET):c.2244T>C (p.His748=)
|
rs2116932632
|
|
NM_000245.4(MET):c.2245C>G (p.Pro749Ala)
|
rs1584942863
|
|
NM_000245.4(MET):c.2246C>T (p.Pro749Leu)
|
rs1794279427
|
|
NM_000245.4(MET):c.2248A>C (p.Thr750Pro)
|
|
|
NM_000245.4(MET):c.2248A>G (p.Thr750Ala)
|
rs1060503531
|
|
NM_000245.4(MET):c.2253A>G (p.Lys751=)
|
|
|
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
|
|
|
NM_000245.4(MET):c.2259T>C (p.Phe753=)
|
rs2116932790
|
|
NM_000245.4(MET):c.2263A>C (p.Ser755Arg)
|
rs981401332
|
|
NM_000245.4(MET):c.2264+10A>C
|
|
|
NM_000245.4(MET):c.2264+15C>T
|
|
|
NM_000245.4(MET):c.2264+17G>A
|
rs1794280747
|
|
NM_000245.4(MET):c.2264+18A>G
|
rs1449726871
|
|
NM_000245.4(MET):c.2264+20G>A
|
|
|
NM_000245.4(MET):c.2264+9A>C
|
|
|
NM_000245.4(MET):c.2265-10G>T
|
rs1355716761
|
|
NM_000245.4(MET):c.2265-15A>C
|
rs201304108
|
|
NM_000245.4(MET):c.2265-15A>G
|
rs201304108
|
|
NM_000245.4(MET):c.2265-18T>C
|
|
|
NM_000245.4(MET):c.2265-18del
|
rs761305394
|
|
NM_000245.4(MET):c.2265-1G>A
|
|
|
NM_000245.4(MET):c.2265-25T>G
|
|
|
NM_000245.4(MET):c.2265-29A>C
|
|
|
NM_000245.4(MET):c.2265-29A>G
|
|
|
NM_000245.4(MET):c.2265-29A>T
|
rs2116937133
|
|
NM_000245.4(MET):c.2265-2A>C
|
|
|
NM_000245.4(MET):c.2265-2A>G
|
rs1397775000
|
|
NM_000245.4(MET):c.2265-30C>T
|
rs2116937120
|
|
NM_000245.4(MET):c.2265-31A>G
|
rs370237186
|
|
NM_000245.4(MET):c.2265-33C>A
|
rs2116937074
|
|
NM_000245.4(MET):c.2265-35C>T
|
|
|
NM_000245.4(MET):c.2265-37C>G
|
|
|
NM_000245.4(MET):c.2265-3C>T
|
|
|
NM_000245.4(MET):c.2265-41G>A
|
rs1554395868
|
|
NM_000245.4(MET):c.2265-46G>A
|
|
|
NM_000245.4(MET):c.2265-46G>T
|
rs1584943653
|
|
NM_000245.4(MET):c.2265-48G>A
|
|
|
NM_000245.4(MET):c.2265-48G>T
|
rs587780540
|
|
NM_000245.4(MET):c.2265-49G>C
|
rs1196543273
|
|
NM_000245.4(MET):c.2265-55G>C
|
|
|
NM_000245.4(MET):c.2265-57C>T
|
rs1562923455
|
|
NM_000245.4(MET):c.2265-59T>C
|
|
|
NM_000245.4(MET):c.2265-60T>A
|
|
|
NM_000245.4(MET):c.2265-63C>G
|
rs2116936690
|
|
NM_000245.4(MET):c.2265-64T>C
|
|
|
NM_000245.4(MET):c.2265-65C>G
|
rs2116936655
|
|
NM_000245.4(MET):c.2265-65C>T
|
rs2116936655
|
|
NM_000245.4(MET):c.2265-66C>T
|
|
|
NM_000245.4(MET):c.2265-68T>G
|
|
|
NM_000245.4(MET):c.2265-71G>A
|
|
|
NM_000245.4(MET):c.2265-72T>C
|
|
|
NM_000245.4(MET):c.2265-73T>C
|
rs1794306292
|
|
NM_000245.4(MET):c.2265-9C>T
|
rs2116937381
|
|
NM_000245.4(MET):c.2266G>A (p.Gly756Ser)
|
|
|
NM_000245.4(MET):c.2267G>A (p.Gly756Asp)
|
rs1794309303
|
|
NM_000245.4(MET):c.2271G>T (p.Gly757=)
|
|
|
NM_000245.4(MET):c.2273G>A (p.Ser758Asn)
|
rs2116937610
|
|
NM_000245.4(MET):c.2276C>A (p.Thr759Lys)
|
rs1794309783
|
|
NM_000245.4(MET):c.2276C>T (p.Thr759Ile)
|
|
|
NM_000245.4(MET):c.2277A>G (p.Thr759=)
|
rs1584943719
|
|
NM_000245.4(MET):c.227A>T (p.Glu76Val)
|
|
|
NM_000245.4(MET):c.2280A>T (p.Ile760=)
|
rs2116937734
|
|
NM_000245.4(MET):c.2284G>A (p.Gly762Ser)
|
rs1794310272
|
|
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
|
rs1060503541
|
|
NM_000245.4(MET):c.2285G>C (p.Gly762Ala)
|
rs1060503541
|
|
NM_000245.4(MET):c.2287G>A (p.Val763Ile)
|
rs2116937873
|
|
NM_000245.4(MET):c.228A>G (p.Glu76=)
|
|
|
NM_000245.4(MET):c.2293A>G (p.Lys765Glu)
|
rs1554395889
|
|
NM_000245.4(MET):c.2299C>G (p.Leu767Val)
|
|
|
NM_000245.4(MET):c.229G>A (p.Asp77Asn)
|
rs372320153
|
|
NM_000245.4(MET):c.2304T>C (p.Asn768=)
|
rs2116938117
|
|
NM_000245.4(MET):c.2307A>G (p.Ser769=)
|
rs2116938175
|
|
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
|
|
|
NM_000245.4(MET):c.2311A>G (p.Ser771Gly)
|
|
|
NM_000245.4(MET):c.2311_2314del (p.Val772fs)
|
rs2116938280
|
|
NM_000245.4(MET):c.2312_2315del (p.Ser771fs)
|
rs2116938318
|
|
NM_000245.4(MET):c.2317C>T (p.Pro773Ser)
|
rs2116938395
|
|
NM_000245.4(MET):c.231C>T (p.Asp77=)
|
|
|
NM_000245.4(MET):c.2320A>C (p.Arg774=)
|
rs2116938453
|
|
NM_000245.4(MET):c.2322A>G (p.Arg774=)
|
|
|
NM_000245.4(MET):c.2323A>G (p.Met775Val)
|
rs1794311390
|
|
NM_000245.4(MET):c.2326G>A (p.Val776Ile)
|
|
|
NM_000245.4(MET):c.2328C>T (p.Val776=)
|
|
|
NM_000245.4(MET):c.2334T>G (p.Asn778Lys)
|
rs2116938738
|
|
NM_000245.4(MET):c.2335G>A (p.Val779Met)
|
rs1562923583
|
|
NM_000245.4(MET):c.2337G>A (p.Val779=)
|
rs863224377
|
|
NM_000245.4(MET):c.2339A>C (p.His780Pro)
|
|
|
NM_000245.4(MET):c.2347G>C (p.Gly783Arg)
|
rs879254334
|
|
NM_000245.4(MET):c.2351G>A (p.Arg784Lys)
|
rs1794313115
|
|
NM_000245.4(MET):c.2354A>T (p.Asn785Ile)
|
|
|
NM_000245.4(MET):c.2355C>A (p.Asn785Lys)
|
|
|
NM_000245.4(MET):c.2359A>G (p.Thr787Ala)
|
rs1180556775
|
|
NM_000245.4(MET):c.2360C>T (p.Thr787Ile)
|
rs2116939286
|
|
NM_000245.4(MET):c.2361A>G (p.Thr787=)
|
rs1027607387
|
|
NM_000245.4(MET):c.2363T>C (p.Val788Ala)
|
rs786204142
|
|
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
|
|
|
NM_000245.4(MET):c.2364+11T>G
|
rs2116939479
|
|
NM_000245.4(MET):c.2364+13A>G
|
|
|
NM_000245.4(MET):c.2364+18T>C
|
|
|
NM_000245.4(MET):c.2364+8del
|
rs1422359365
|
|
NM_000245.4(MET):c.2365-10C>G
|
rs2116953381
|
|
NM_000245.4(MET):c.2365-11T>A
|
rs1367439751
|
|
NM_000245.4(MET):c.2365-19T>A
|
|
|
NM_000245.4(MET):c.2365-3T>C
|
|
|
NM_000245.4(MET):c.2365-4C>G
|
rs1060504943
|
|
NM_000245.4(MET):c.2365-5T>C
|
|
|
NM_000245.4(MET):c.2367A>C (p.Ala789=)
|
|
|
NM_000245.4(MET):c.2367A>G (p.Ala789=)
|
rs910873191
|
|
NM_000245.4(MET):c.236A>G (p.Gln79Arg)
|
rs1562883214
|
|
NM_000245.4(MET):c.2372A>C (p.Gln791Pro)
|
|
|
NM_000245.4(MET):c.2372A>G (p.Gln791Arg)
|
rs1794457657
|
|
NM_000245.4(MET):c.2373A>C (p.Gln791His)
|
rs760294359
|
|
NM_000245.4(MET):c.2373A>T (p.Gln791His)
|
rs760294359
|
|
NM_000245.4(MET):c.2374C>A (p.His792Asn)
|
|
|
NM_000245.4(MET):c.2375A>C (p.His792Pro)
|
rs980467681
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
NM_000245.4(MET):c.2378G>T (p.Arg793Leu)
|
rs199643166
|
|
NM_000245.4(MET):c.2379C>T (p.Arg793=)
|
rs1794458829
|
|
NM_000245.4(MET):c.237G>A (p.Gln79=)
|
rs752226182
|
|
NM_000245.4(MET):c.2380T>C (p.Ser794Pro)
|
rs2116953849
|
|
NM_000245.4(MET):c.2381C>A (p.Ser794Tyr)
|
rs371939364
|
|
NM_000245.4(MET):c.2383A>G (p.Asn795Asp)
|
rs200633053
|
|
NM_000245.4(MET):c.2388A>G (p.Ser796=)
|
|
|
NM_000245.4(MET):c.2389G>A (p.Glu797Lys)
|
rs1307693651
|
|
NM_000245.4(MET):c.2391G>A (p.Glu797=)
|
rs2116954046
|
|
NM_000245.4(MET):c.2394A>G (p.Ile798Met)
|
|
|
NM_000245.4(MET):c.2395A>G (p.Ile799Val)
|
|
|
NM_000245.4(MET):c.2398T>A (p.Cys800Ser)
|
|
|
NM_000245.4(MET):c.2399G>T (p.Cys800Phe)
|
rs1209881740
|
|
NM_000245.4(MET):c.239A>G (p.Lys80Arg)
|
rs1791468662
|
|
NM_000245.4(MET):c.2401T>C (p.Cys801Arg)
|
rs1794461185
|
|
NM_000245.4(MET):c.2403T>C (p.Cys801=)
|
|
|
NM_000245.4(MET):c.2404A>G (p.Thr802Ala)
|
|
|
NM_000245.4(MET):c.2405C>T (p.Thr802Ile)
|
|
|
NM_000245.4(MET):c.2406C>T (p.Thr802=)
|
rs1433483763
|
|
NM_000245.4(MET):c.2409T>C (p.Thr803=)
|
rs1584946860
|
|
NM_000245.4(MET):c.2409T>G (p.Thr803=)
|
rs1584946860
|
|
NM_000245.4(MET):c.240G>A (p.Lys80=)
|
rs2116583694
|
|
NM_000245.4(MET):c.2412T>C (p.Pro804=)
|
rs2116954506
|
|
NM_000245.4(MET):c.2417T>C (p.Leu806Pro)
|
rs1390958903
|
|
NM_000245.4(MET):c.2418G>A (p.Leu806=)
|
rs2116954628
|
|
NM_000245.4(MET):c.2418G>C (p.Leu806=)
|
|
|
NM_000245.4(MET):c.2419C>A (p.Gln807Lys)
|
rs2116954655
|
|
NM_000245.4(MET):c.2420A>G (p.Gln807Arg)
|
|
|
NM_000245.4(MET):c.2424G>A (p.Gln808=)
|
|
|
NM_000245.4(MET):c.2426T>C (p.Leu809Pro)
|
|
|
NM_000245.4(MET):c.2427G>A (p.Leu809=)
|
rs1794462604
|
|
NM_000245.4(MET):c.2428A>G (p.Asn810Asp)
|
|
|
NM_000245.4(MET):c.242T>G (p.Val81Gly)
|
|
|
NM_000245.4(MET):c.2430T>A (p.Asn810Lys)
|
rs1160047047
|
|
NM_000245.4(MET):c.2431C>A (p.Leu811Met)
|
|
|
NM_000245.4(MET):c.2431C>T (p.Leu811=)
|
rs1584946893
|
|
NM_000245.4(MET):c.2432T>A (p.Leu811Gln)
|
rs1554396554
|
|
NM_000245.4(MET):c.2432T>C (p.Leu811Pro)
|
rs1554396554
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
NM_000245.4(MET):c.2435A>T (p.Gln812Leu)
|
|
|
NM_000245.4(MET):c.2437C>T (p.Leu813Phe)
|
rs745345346
|
|
NM_000245.4(MET):c.2442C>T (p.Pro814=)
|
|
|
NM_000245.4(MET):c.2443C>T (p.Leu815=)
|
rs2116955196
|
|
NM_000245.4(MET):c.2444T>C (p.Leu815Pro)
|
rs1554396571
|
|
NM_000245.4(MET):c.2445G>A (p.Leu815=)
|
|
|
NM_000245.4(MET):c.2451C>A (p.Thr817=)
|
rs2116955318
|
|
NM_000245.4(MET):c.2451C>G (p.Thr817=)
|
rs2116955318
|
|
NM_000245.4(MET):c.2453A>G (p.Lys818Arg)
|
|
|
NM_000245.4(MET):c.2455G>T (p.Ala819Ser)
|
|
|
NM_000245.4(MET):c.2456C>G (p.Ala819Gly)
|
|
|
NM_000245.4(MET):c.2457C>A (p.Ala819=)
|
rs746040712
|
|
NM_000245.4(MET):c.2457C>T (p.Ala819=)
|
rs746040712
|
|
NM_000245.4(MET):c.245C>T (p.Ala82Val)
|
rs1584876240
|
|
NM_000245.4(MET):c.2461T>A (p.Phe821Ile)
|
|
|
NM_000245.4(MET):c.2461T>C (p.Phe821Leu)
|
rs1794465668
|
|
NM_000245.4(MET):c.2462T>G (p.Phe821Cys)
|
|
|
NM_000245.4(MET):c.2464A>G (p.Met822Val)
|
rs368787826
|
|
NM_000245.4(MET):c.2464A>T (p.Met822Leu)
|
rs368787826
|
|
NM_000245.4(MET):c.2465T>C (p.Met822Thr)
|
rs1562925631
|
|
NM_000245.4(MET):c.2472T>G (p.Asp824Glu)
|
rs1463527073
|
|
NM_000245.4(MET):c.2474G>A (p.Gly825Glu)
|
rs1307584609
|
|
NM_000245.4(MET):c.2475G>A (p.Gly825=)
|
rs891908277
|
|
NM_000245.4(MET):c.2475G>T (p.Gly825=)
|
rs891908277
|
|
NM_000245.4(MET):c.2479C>T (p.Leu827Phe)
|
rs2116955879
|
|
NM_000245.4(MET):c.2487A>T (p.Lys829Asn)
|
|
|
NM_000245.4(MET):c.2488T>C (p.Tyr830His)
|
rs1794468017
|
|
NM_000245.4(MET):c.248A>C (p.Glu83Ala)
|
rs2116583864
|
|
NM_000245.4(MET):c.2495A>T (p.Asp832Val)
|
|
|
NM_000245.4(MET):c.2497C>T (p.Leu833Phe)
|
|
|
NM_000245.4(MET):c.2499C>T (p.Leu833=)
|
|
|
NM_000245.4(MET):c.249G>A (p.Glu83=)
|
rs751158831
|
|
NM_000245.4(MET):c.24dup (p.Pro9fs)
|
|
|
NM_000245.4(MET):c.2500A>G (p.Ile834Val)
|
rs2116956205
|
|
NM_000245.4(MET):c.2501T>A (p.Ile834Asn)
|
rs1215872095
|
|
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
|
|
|
NM_000245.4(MET):c.2506G>A (p.Val836Ile)
|
rs372699296
|
|
NM_000245.4(MET):c.2506G>T (p.Val836Leu)
|
|
|
NM_000245.4(MET):c.2508A>G (p.Val836=)
|
rs1322202293
|
|
NM_000245.4(MET):c.2509C>T (p.His837Tyr)
|
rs1584947043
|
|
NM_000245.4(MET):c.2510A>C (p.His837Pro)
|
rs1041349799
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
NM_000245.4(MET):c.2514T>C (p.Asn838=)
|
|
|
NM_000245.4(MET):c.2515C>T (p.Pro839Ser)
|
|
|
NM_000245.4(MET):c.2517T>G (p.Pro839=)
|
rs1584947055
|
|
NM_000245.4(MET):c.2520G>A (p.Val840=)
|
|
|
NM_000245.4(MET):c.2527C>A (p.Pro843Thr)
|
rs905891313
|
|
NM_000245.4(MET):c.2527C>T (p.Pro843Ser)
|
|
|
NM_000245.4(MET):c.2528C>T (p.Pro843Leu)
|
rs762228405
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
NM_000245.4(MET):c.2532T>C (p.Phe844=)
|
rs1295247757
|
|
NM_000245.4(MET):c.2533G>C (p.Glu845Gln)
|
rs1794470895
|
|
NM_000245.4(MET):c.2534A>G (p.Glu845Gly)
|
rs1794471154
|
|
NM_000245.4(MET):c.2538G>C (p.Lys846Asn)
|
rs1562925732
|
|
NM_000245.4(MET):c.2539C>T (p.Pro847Ser)
|
rs1562925733
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
NM_000245.4(MET):c.2540C>G (p.Pro847Arg)
|
rs2116956803
|
|
NM_000245.4(MET):c.2541A>G (p.Pro847=)
|
rs2116956820
|
|
NM_000245.4(MET):c.2545A>G (p.Met849Val)
|
rs1584947097
|
|
NM_000245.4(MET):c.2547G>T (p.Met849Ile)
|
rs747989932
|
|
NM_000245.4(MET):c.2550C>T (p.Ile850=)
|
rs1424567821
|
|
NM_000245.4(MET):c.2555T>C (p.Met852Thr)
|
rs369758288
|
|
NM_000245.4(MET):c.2557G>A (p.Gly853Ser)
|
rs45575240
|
|
NM_000245.4(MET):c.2559C>A (p.Gly853=)
|
|
|
NM_000245.4(MET):c.2559C>T (p.Gly853=)
|
|
|
NM_000245.4(MET):c.255G>T (p.Lys85Asn)
|
rs1327946446
|
|
NM_000245.4(MET):c.2561A>G (p.Asn854Ser)
|
rs2116957192
|
|
NM_000245.4(MET):c.2568T>G (p.Asn856Lys)
|
rs118057172
|
|
NM_000245.4(MET):c.2569G>A (p.Val857Ile)
|
rs1794474122
|
|
NM_000245.4(MET):c.2573T>G (p.Leu858Arg)
|
rs1794474295
|
|
NM_000245.4(MET):c.2575G>A (p.Glu859Lys)
|
|
|
NM_000245.4(MET):c.2582A>G (p.Lys861Arg)
|
rs895820328
|
|
NM_000245.4(MET):c.2583+10G>T
|
rs2116957648
|
|
NM_000245.4(MET):c.2583+11C>A
|
rs780485505
|
|
NM_000245.4(MET):c.2583+11C>G
|
|
|
NM_000245.4(MET):c.2583+13T>C
|
rs2116957699
|
|
NM_000245.4(MET):c.2583+14T>C
|
|
|
NM_000245.4(MET):c.2583+19A>G
|
|
|
NM_000245.4(MET):c.2583+3A>G
|
rs781401324
|
|
NM_000245.4(MET):c.2583+5G>A
|
rs1432247099
|
|
NM_000245.4(MET):c.2583G>A (p.Lys861=)
|
rs1584947168
|
|
NM_000245.4(MET):c.2584-10T>C
|
rs1308148206
|
|
NM_000245.4(MET):c.2584-10T>G
|
rs1308148206
|
|
NM_000245.4(MET):c.2584-1G>T
|
rs1240673121
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
NM_000245.4(MET):c.2584-4T>C
|
rs1554397896
|
|
NM_000245.4(MET):c.2584-5T>G
|
rs2116982294
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.2584-8C>T
|
rs370833501
|
|
NM_000245.4(MET):c.2584-9T>G
|
rs74994656
|
|
NM_000245.4(MET):c.2584-9_2584-8del
|
rs1491102590
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2585_2605del (p.Gly862_Glu868del)
|
|
|
NM_000245.4(MET):c.2586A>G (p.Gly862=)
|
|
|
NM_000245.4(MET):c.2587A>G (p.Asn863Asp)
|
|
|
NM_000245.4(MET):c.2588A>G (p.Asn863Ser)
|
rs1794766796
|
|
NM_000245.4(MET):c.258T>G (p.Thr86=)
|
rs756911444
|
|
NM_000245.4(MET):c.2590G>A (p.Asp864Asn)
|
|
|
NM_000245.4(MET):c.2590G>T (p.Asp864Tyr)
|
rs1584953171
|
|
NM_000245.4(MET):c.2590_2592del (p.Asp864del)
|
|
|
NM_000245.4(MET):c.2595T>C (p.Ile865=)
|
rs2116982595
|
|
NM_000245.4(MET):c.2596G>C (p.Asp866His)
|
|
|
NM_000245.4(MET):c.25C>A (p.Pro9Thr)
|
rs2116578170
|
|
NM_000245.4(MET):c.25C>T (p.Pro9Ser)
|
rs2116578170
|
|
NM_000245.4(MET):c.2601T>A (p.Pro867=)
|
rs2116982713
|
|
NM_000245.4(MET):c.2604A>G (p.Glu868=)
|
|
|
NM_000245.4(MET):c.2606_2607delinsAG (p.Ala869Glu)
|
|
|
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
|
|
|
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
|
|
|
NM_000245.4(MET):c.2614G>A (p.Gly872Ser)
|
rs1794767589
|
|
NM_000245.4(MET):c.2615G>T (p.Gly872Val)
|
|
|
NM_000245.4(MET):c.2616T>C (p.Gly872=)
|
rs863224378
|
|
NM_000245.4(MET):c.2619A>G (p.Glu873=)
|
|
|
NM_000245.4(MET):c.261G>T (p.Gly87=)
|
rs2116584241
|
|
NM_000245.4(MET):c.2620G>A (p.Val874Met)
|
rs1299130122
|
|
NM_000245.4(MET):c.2622G>C (p.Val874=)
|
|
|
NM_000245.4(MET):c.2626A>C (p.Lys876Gln)
|
rs368891381
|
|
NM_000245.4(MET):c.2629G>T (p.Val877Phe)
|
|
|
NM_000245.4(MET):c.262C>A (p.Pro88Thr)
|
|
|
NM_000245.4(MET):c.262C>G (p.Pro88Ala)
|
rs1169278904
|
|
NM_000245.4(MET):c.2631T>C (p.Val877=)
|
|
|
NM_000245.4(MET):c.2638A>G (p.Lys880Glu)
|
rs2116983288
|
|
NM_000245.4(MET):c.2640G>A (p.Lys880=)
|
|
|
NM_000245.4(MET):c.2640G>C (p.Lys880Asn)
|
|
|
NM_000245.4(MET):c.2647G>A (p.Glu883Lys)
|
rs769253547
|
|
NM_000245.4(MET):c.2653A>G (p.Ile885Val)
|
rs1584953249
|
|
NM_000245.4(MET):c.2656C>G (p.His886Asp)
|
rs1209392687
|
|
NM_000245.4(MET):c.2657A>G (p.His886Arg)
|
rs2116983578
|
|
NM_000245.4(MET):c.2658C>A (p.His886Gln)
|
rs748950533
|
|
NM_000245.4(MET):c.265G>A (p.Val89Met)
|
rs1060503544
|
|
NM_000245.4(MET):c.2662C>G (p.His888Asp)
|
rs115574135
|
|
NM_000245.4(MET):c.2663A>G (p.His888Arg)
|
rs1584953276
|
|
NM_000245.4(MET):c.2670A>C (p.Glu890Asp)
|
|
|
NM_000245.4(MET):c.2670A>G (p.Glu890=)
|
|
|
NM_000245.4(MET):c.2672C>G (p.Ala891Gly)
|
rs1562929174
|
|
NM_000245.4(MET):c.2672C>T (p.Ala891Val)
|
rs1562929174
|
|
NM_000245.4(MET):c.2685G>C (p.Thr895=)
|
rs760722037
|
|
NM_000245.4(MET):c.2697C>G (p.Asp899Glu)
|
|
|
NM_000245.4(MET):c.2697C>T (p.Asp899=)
|
rs1584953336
|
|
NM_000245.4(MET):c.2698C>A (p.Leu900Met)
|
rs1398243931
|
|
NM_000245.4(MET):c.269T>C (p.Leu90Pro)
|
rs1291977283
|
|
NM_000245.4(MET):c.26C>T (p.Pro9Leu)
|
rs1355886011
|
|
NM_000245.4(MET):c.2700G>T (p.Leu900=)
|
rs921308683
|
|
NM_000245.4(MET):c.2701C>G (p.Leu901Val)
|
rs1384134548
|
|
NM_000245.4(MET):c.2703G>A (p.Leu901=)
|
rs1374413099
|
|
NM_000245.4(MET):c.2707T>C (p.Leu903=)
|
rs2116984374
|
|
NM_000245.4(MET):c.270G>A (p.Leu90=)
|
|
|
NM_000245.4(MET):c.2711A>G (p.Asn904Ser)
|
rs765441927
|
|
NM_000245.4(MET):c.2718G>A (p.Glu906=)
|
rs752013993
|
|
NM_000245.4(MET):c.2719C>T (p.Leu907=)
|
rs1237905483
|
|
NM_000245.4(MET):c.272A>G (p.Glu91Gly)
|
rs1791471735
|
|
NM_000245.4(MET):c.2730+1G>A
|
|
|
NM_000245.4(MET):c.2730+8T>C
|
|
|
NM_000245.4(MET):c.2731-11G>A
|
|
|
NM_000245.4(MET):c.2731-11del
|
|
|
NM_000245.4(MET):c.2731-13T>C
|
|
|
NM_000245.4(MET):c.2731-17T>C
|
|
|
NM_000245.4(MET):c.2731-18T>G
|
|
|
NM_000245.4(MET):c.2731-4T>C
|
rs2116991247
|
|
NM_000245.4(MET):c.2731-6T>C
|
rs1279722189
|
|
NM_000245.4(MET):c.2736G>C (p.Lys912Asn)
|
rs1794830011
|
|
NM_000245.4(MET):c.2737C>A (p.Gln913Lys)
|
rs1794830159
|
|
NM_000245.4(MET):c.2737C>G (p.Gln913Glu)
|
|
|
NM_000245.4(MET):c.2739A>C (p.Gln913His)
|
|
|
NM_000245.4(MET):c.2740G>A (p.Ala914Thr)
|
|
|
NM_000245.4(MET):c.2742A>G (p.Ala914=)
|
rs1208554913
|
|
NM_000245.4(MET):c.2745T>G (p.Ile915Met)
|
rs1554398244
|
|
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr)
|
rs1288860579
|
|
NM_000245.4(MET):c.2747C>T (p.Ser916Phe)
|
rs1288860579
|
|
NM_000245.4(MET):c.2748T>G (p.Ser916=)
|
|
|
NM_000245.4(MET):c.274C>G (p.His92Asp)
|
rs1375872823
|
|
NM_000245.4(MET):c.2754C>A (p.Thr918=)
|
rs770886012
|
|
NM_000245.4(MET):c.275A>G (p.His92Arg)
|
|
|
NM_000245.4(MET):c.2760T>C (p.Leu920=)
|
rs1554398258
|
|
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
|
|
|
NM_000245.4(MET):c.2766A>G (p.Lys922=)
|
|
|
NM_000245.4(MET):c.2767G>A (p.Val923Ile)
|
rs1794832354
|
|
NM_000245.4(MET):c.2767G>C (p.Val923Leu)
|
rs1794832354
|
|
NM_000245.4(MET):c.2769A>G (p.Val923=)
|
rs371015065
|
|
NM_000245.4(MET):c.276C>T (p.His92=)
|
rs1224680436
|
|
NM_000245.4(MET):c.2770A>G (p.Ile924Val)
|
rs1247472138
|
|
NM_000245.4(MET):c.2772A>T (p.Ile924=)
|
rs2116991891
|
|
NM_000245.4(MET):c.2773G>A (p.Val925Ile)
|
rs1794833108
|
|
NM_000245.4(MET):c.2774T>C (p.Val925Ala)
|
rs922442405
|
|
NM_000245.4(MET):c.2777A>G (p.Gln926Arg)
|
rs1464316950
|
|
NM_000245.4(MET):c.277C>T (p.Pro93Ser)
|
rs527638748
|
|
NM_000245.4(MET):c.2786A>G (p.Gln929Arg)
|
rs1794833626
|
|
NM_000245.4(MET):c.278C>G (p.Pro93Arg)
|
rs1306740707
|
|
NM_000245.4(MET):c.278C>T (p.Pro93Leu)
|
rs1306740707
|
|
NM_000245.4(MET):c.2790T>C (p.Asn930=)
|
rs933744184
|
|
NM_000245.4(MET):c.2791T>A (p.Phe931Ile)
|
rs1562930067
|
|
NM_000245.4(MET):c.2794A>C (p.Thr932Pro)
|
|
|
NM_000245.4(MET):c.279A>G (p.Pro93=)
|
|
|
NM_000245.4(MET):c.27T>G (p.Pro9=)
|
rs2116578238
|
|
NM_000245.4(MET):c.2800T>C (p.Leu934=)
|
rs1554398274
|
|
NM_000245.4(MET):c.2803A>G (p.Ile935Val)
|
rs1420349380
|
|
NM_000245.4(MET):c.2805T>G (p.Ile935Met)
|
|
|
NM_000245.4(MET):c.2806G>A (p.Ala936Thr)
|
rs1794834628
|
|
NM_000245.4(MET):c.2806G>C (p.Ala936Pro)
|
|
|
NM_000245.4(MET):c.2806G>T (p.Ala936Ser)
|
rs1794834628
|
|
NM_000245.4(MET):c.2807C>T (p.Ala936Val)
|
|
|
NM_000245.4(MET):c.2809G>A (p.Gly937Ser)
|
|
|
NM_000245.4(MET):c.280G>A (p.Asp94Asn)
|
rs899151863
|
|
NM_000245.4(MET):c.2813T>C (p.Val938Ala)
|
rs1554398288
|
|
NM_000245.4(MET):c.2822T>G (p.Ile941Arg)
|
|
|
NM_000245.4(MET):c.2823A>G (p.Ile941Met)
|
|
|
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)
|
rs2116992551
|
|
NM_000245.4(MET):c.2829A>G (p.Thr943=)
|
|
|
NM_000245.4(MET):c.2830G>A (p.Ala944Thr)
|
rs2116992583
|
|
NM_000245.4(MET):c.2832A>C (p.Ala944=)
|
rs1584955001
|
|
NM_000245.4(MET):c.2835G>C (p.Leu945=)
|
rs2116992677
|
|
NM_000245.4(MET):c.2842C>A (p.Leu948Ile)
|
|
|
NM_000245.4(MET):c.2842C>T (p.Leu948=)
|
|
|
NM_000245.4(MET):c.2843T>C (p.Leu948Pro)
|
rs2116992766
|
|
NM_000245.4(MET):c.2844A>G (p.Leu948=)
|
rs2116992782
|
|
NM_000245.4(MET):c.2845C>T (p.Leu949Phe)
|
|
|
NM_000245.4(MET):c.2849G>A (p.Gly950Glu)
|
rs2116992857
|
|
NM_000245.4(MET):c.2849G>T (p.Gly950Val)
|
rs2116992857
|
|
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
|
|
|
NM_000245.4(MET):c.2850G>A (p.Gly950=)
|
|
|
NM_000245.4(MET):c.2859G>C (p.Leu953=)
|
rs1355100822
|
|
NM_000245.4(MET):c.285T>C (p.Cys95=)
|
rs2116584893
|
|
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
|
|
|
NM_000245.4(MET):c.2864T>A (p.Leu955Gln)
|
rs879254335
|
|
NM_000245.4(MET):c.2865G>A (p.Leu955=)
|
|
|
NM_000245.4(MET):c.2866A>G (p.Lys956Glu)
|
|
|
NM_000245.4(MET):c.2870A>T (p.Lys957Met)
|
rs1794836962
|
|
NM_000245.4(MET):c.2873G>A (p.Arg958Lys)
|
|
|
NM_000245.4(MET):c.2874A>G (p.Arg958=)
|
rs1452848504
|
|
NM_000245.4(MET):c.2878C>A (p.Gln960Lys)
|
rs2116993223
|
|
NM_000245.4(MET):c.287T>G (p.Phe96Cys)
|
rs371941340
|
|
NM_000245.4(MET):c.2880A>T (p.Gln960His)
|
rs2116993238
|
|
NM_000245.4(MET):c.2887+12T>C
|
|
|
NM_000245.4(MET):c.2887+16T>A
|
rs1156790048
|
|
NM_000245.4(MET):c.2887+17G>A
|
|
|
NM_000245.4(MET):c.2887+17G>C
|
|
|
NM_000245.4(MET):c.2887+17G>T
|
|
|
NM_000245.4(MET):c.2887+17_2887+18del
|
|
|
NM_000245.4(MET):c.2887+18T>C
|
|
|
NM_000245.4(MET):c.2887+1G>T
|
|
|
NM_000245.4(MET):c.2887+3G>A
|
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
NM_000245.4(MET):c.2887+6T>C
|
rs1584955059
|
|
NM_000245.4(MET):c.2887+9T>C
|
|
|
NM_000245.4(MET):c.2888-10C>G
|
rs1060504945
|
|
NM_000245.4(MET):c.2888-12C>G
|
|
|
NM_000245.4(MET):c.2888-12_2888-9del
|
|
|
NM_000245.4(MET):c.2888-15T>C
|
rs2116995611
|
|
NM_000245.4(MET):c.2888-16_2888-13del
|
rs747887276
|
|
NM_000245.4(MET):c.2888-17T>G
|
rs767063578
|
|
NM_000245.4(MET):c.2888-18C>G
|
|
|
NM_000245.4(MET):c.2888-21_2888-20delinsGC
|
rs2116995433
|
|
NM_000245.4(MET):c.2888-6T>G
|
rs1562930263
|
|
NM_000245.4(MET):c.2888A>G (p.Asp963Gly)
|
rs1554398360
|
|
NM_000245.4(MET):c.2892G>A (p.Leu964=)
|
rs1584955273
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
NM_000245.4(MET):c.2897G>A (p.Ser966Asn)
|
rs1460031754
|
|
NM_000245.4(MET):c.2902T>C (p.Leu968=)
|
|
|
NM_000245.4(MET):c.2905G>T (p.Val969Phe)
|
rs757925979
|
|
NM_000245.4(MET):c.2906T>C (p.Val969Ala)
|
|
|
NM_000245.4(MET):c.2909G>C (p.Arg970Pro)
|
rs45607832
|
|
NM_000245.4(MET):c.2909G>T (p.Arg970Leu)
|
|
|
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
|
|
|
NM_000245.4(MET):c.2910C>T (p.Arg970=)
|
rs756957004
|
|
NM_000245.4(MET):c.2911_2912insGAGT (p.Tyr971Ter)
|
|
|
NM_000245.4(MET):c.2912A>G (p.Tyr971Cys)
|
rs780819058
|
|
NM_000245.4(MET):c.2912A>T (p.Tyr971Phe)
|
|
|
NM_000245.4(MET):c.2917G>A (p.Ala973Thr)
|
rs1584955330
|
|
NM_000245.4(MET):c.2918C>G (p.Ala973Gly)
|
|
|
NM_000245.4(MET):c.2920A>G (p.Arg974Gly)
|
|
|
NM_000245.4(MET):c.2921G>A (p.Arg974Lys)
|
|
|
NM_000245.4(MET):c.2921_2946del (p.Arg974fs)
|
|
|
NM_000245.4(MET):c.2926C>T (p.His976Tyr)
|
|
|
NM_000245.4(MET):c.2927A>G (p.His976Arg)
|
|
|
NM_000245.4(MET):c.2928C>T (p.His976=)
|
rs2116996392
|
|
NM_000245.4(MET):c.2929A>G (p.Thr977Ala)
|
rs1554398378
|
|
NM_000245.4(MET):c.292T>C (p.Cys98Arg)
|
rs1791473262
|
|
NM_000245.4(MET):c.2930C>T (p.Thr977Ile)
|
rs1794847178
|
|
NM_000245.4(MET):c.2933C>T (p.Pro978Leu)
|
rs1060503540
|
|
NM_000245.4(MET):c.2937T>C (p.His979=)
|
|
|
NM_000245.4(MET):c.2941G>A (p.Asp981Asn)
|
rs1794847447
|
|
NM_000245.4(MET):c.2941G>C (p.Asp981His)
|
rs1794847447
|
|
NM_000245.4(MET):c.2941G>T (p.Asp981Tyr)
|
rs1794847447
|
|
NM_000245.4(MET):c.2943T>C (p.Asp981=)
|
rs45561544
|
|
NM_000245.4(MET):c.2946G>C (p.Arg982Ser)
|
rs1554398390
|
|
NM_000245.4(MET):c.294T>C (p.Cys98=)
|
rs2116585117
|
|
NM_000245.4(MET):c.2950G>A (p.Val984Ile)
|
rs1258377870
|
|
NM_000245.4(MET):c.2951T>C (p.Val984Ala)
|
rs1794847963
|
|
NM_000245.4(MET):c.2951dup (p.Ser985fs)
|
|
|
NM_000245.4(MET):c.2954G>C (p.Ser985Thr)
|
rs779906308
|
|
NM_000245.4(MET):c.2956G>T (p.Ala986Ser)
|
rs1794848174
|
|
NM_000245.4(MET):c.2959C>T (p.Arg987Ter)
|
rs1554398397
|
|
NM_000245.4(MET):c.2960G>A (p.Arg987Gln)
|
rs910937816
|
|
NM_000245.4(MET):c.2964T>C (p.Ser988=)
|
rs1554398401
|
|
NM_000245.4(MET):c.2965G>A (p.Val989Ile)
|
rs1442896663
|
|
NM_000245.4(MET):c.2970C>T (p.Ser990=)
|
rs544081614
|
|
NM_000245.4(MET):c.2974A>T (p.Thr992Ser)
|
|
|
NM_000245.4(MET):c.2983A>G (p.Met995Val)
|
rs1794849768
|
|
NM_000245.4(MET):c.2987T>C (p.Val996Ala)
|
rs1554398418
|
|
NM_000245.4(MET):c.298G>C (p.Asp100His)
|
rs1554378400
|
|
NM_000245.4(MET):c.2992A>G (p.Asn998Asp)
|
|
|
NM_000245.4(MET):c.2995G>C (p.Glu999Gln)
|
rs1404824650
|
|
NM_000245.4(MET):c.2996A>T (p.Glu999Val)
|
rs912927724
|
|
NM_000245.4(MET):c.299A>G (p.Asp100Gly)
|
rs1791473592
|
|
NM_000245.4(MET):c.29G>A (p.Gly10Asp)
|
rs919828654
|
|
NM_000245.4(MET):c.3000T>C (p.Ser1000=)
|
|
|
NM_000245.4(MET):c.3001del (p.Ser1000_Val1001insTer)
|
|
|
NM_000245.4(MET):c.3003A>T (p.Val1001=)
|
|
|
NM_000245.4(MET):c.3005A>G (p.Asp1002Gly)
|
rs1794850672
|
|
NM_000245.4(MET):c.3006C>T (p.Asp1002=)
|
rs2116997464
|
|
NM_000245.4(MET):c.3008A>G (p.Tyr1003Cys)
|
|
|
NM_000245.4(MET):c.300C>T (p.Asp100=)
|
rs2116585270
|
|
NM_000245.4(MET):c.3011G>A (p.Arg1004Gln)
|
|
|
NM_000245.4(MET):c.3013G>A (p.Ala1005Thr)
|
rs2116997594
|
|
NM_000245.4(MET):c.3015T>C (p.Ala1005=)
|
rs2116997626
|
|
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser)
|
rs1794851181
|
|
NM_000245.4(MET):c.3018T>G (p.Thr1006=)
|
|
|
NM_000245.4(MET):c.3023C>T (p.Pro1008Leu)
|
|
|
NM_000245.4(MET):c.3026A>C (p.Glu1009Ala)
|
|
|
NM_000245.4(MET):c.3028+10A>C
|
rs763648816
|
|
NM_000245.4(MET):c.3028+10A>G
|
rs763648816
|
|
NM_000245.4(MET):c.3028+11G>A
|
rs369191825
|
|
NM_000245.4(MET):c.3028+15A>G
|
|
|
NM_000245.4(MET):c.3028+16T>C
|
rs749086707
|
|
NM_000245.4(MET):c.3028+17T>G
|
|
|
NM_000245.4(MET):c.3028+3A>G
|
|
|
NM_000245.4(MET):c.3028+5A>G
|
|
|
NM_000245.4(MET):c.3029-15T>C
|
|
|
NM_000245.4(MET):c.3029-16T>C
|
rs2117029242
|
|
NM_000245.4(MET):c.3029-18T>C
|
rs1794944566
|
|
NM_000245.4(MET):c.3029-1G>A
|
rs2117029383
|
|
NM_000245.4(MET):c.3029-2A>G
|
rs2117029370
|
|
NM_000245.4(MET):c.3029-5T>C
|
rs2117029329
|
|
NM_000245.4(MET):c.3029A>C (p.Asp1010Ala)
|
rs2117029391
|
|
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu)
|
rs1584957663
|
|
NM_000245.4(MET):c.3031del (p.Gln1011fs)
|
|
|
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser)
|
rs1794945602
|
|
NM_000245.4(MET):c.3038C>G (p.Pro1013Arg)
|
rs1203610182
|
|
NM_000245.4(MET):c.303C>T (p.Cys101=)
|
|
|
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser)
|
rs2117029538
|
|
NM_000245.4(MET):c.3043T>G (p.Ser1015Ala)
|
rs539345989
|
|
NM_000245.4(MET):c.3045A>G (p.Ser1015=)
|
|
|
NM_000245.4(MET):c.3048T>G (p.Ser1016=)
|
|
|
NM_000245.4(MET):c.3048_3049delinsAA (p.Gln1017Lys)
|
rs2117029651
|
|
NM_000245.4(MET):c.3049C>G (p.Gln1017Glu)
|
rs1794946568
|
|
NM_000245.4(MET):c.3050A>G (p.Gln1017Arg)
|
|
|
NM_000245.4(MET):c.3051G>A (p.Gln1017=)
|
|
|
NM_000245.4(MET):c.3053A>G (p.Asn1018Ser)
|
|
|
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser)
|
rs950642030
|
|
NM_000245.4(MET):c.3060A>C (p.Ser1020=)
|
rs2117029833
|
|
NM_000245.4(MET):c.3060A>T (p.Ser1020=)
|
|
|
NM_000245.4(MET):c.3061T>C (p.Cys1021Arg)
|
rs2117029846
|
|
NM_000245.4(MET):c.3064C>G (p.Arg1022Gly)
|
rs1193441628
|
|
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu)
|
rs45612435
|
|
NM_000245.4(MET):c.3065_3067del (p.Arg1022del)
|
rs2117029920
|
|
NM_000245.4(MET):c.3070G>A (p.Val1024Met)
|
rs1584957724
|
|
NM_000245.4(MET):c.3071T>C (p.Val1024Ala)
|
rs2117030004
|
|
NM_000245.4(MET):c.3071T>G (p.Val1024Gly)
|
|
|
NM_000245.4(MET):c.3074A>G (p.Gln1025Arg)
|
rs1794947477
|
|
NM_000245.4(MET):c.3075G>A (p.Gln1025=)
|
|
|
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala)
|
rs373419003
|
|
NM_000245.4(MET):c.3083T>C (p.Leu1028Pro)
|
|
|
NM_000245.4(MET):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_000245.4(MET):c.3087A>G (p.Thr1029=)
|
|
|
NM_000245.4(MET):c.3090C>T (p.Asp1030=)
|
rs766136369
|
|
NM_000245.4(MET):c.3092T>C (p.Met1031Thr)
|
rs1255185058
|
|
NM_000245.4(MET):c.3094T>A (p.Ser1032Thr)
|
rs2117030307
|
|
NM_000245.4(MET):c.3097C>G (p.Pro1033Ala)
|
rs1294910019
|
|
NM_000245.4(MET):c.3098C>G (p.Pro1033Arg)
|
|
|
NM_000245.4(MET):c.3099C>T (p.Pro1033=)
|
rs754909964
|
|
NM_000245.4(MET):c.309C>T (p.Ser103=)
|
|
|
NM_000245.4(MET):c.30C>T (p.Gly10=)
|
|
|
NM_000245.4(MET):c.3100A>G (p.Ile1034Val)
|
rs993773653
|
|
NM_000245.4(MET):c.3102C>A (p.Ile1034=)
|
|
|
NM_000245.4(MET):c.3106A>T (p.Thr1036Ser)
|
|
|
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly)
|
rs1794948966
|
|
NM_000245.4(MET):c.3112G>T (p.Gly1038Trp)
|
|
|
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn)
|
rs777748634
|
|
NM_000245.4(MET):c.3115G>C (p.Asp1039His)
|
|
|
NM_000245.4(MET):c.3115del (p.Asp1039fs)
|
|
|
NM_000245.4(MET):c.3116A>G (p.Asp1039Gly)
|
rs1794949125
|
|
NM_000245.4(MET):c.3117C>A (p.Asp1039Glu)
|
rs575907920
|
|
NM_000245.4(MET):c.3117C>G (p.Asp1039Glu)
|
rs575907920
|
|
NM_000245.4(MET):c.3117C>T (p.Asp1039=)
|
|
|
NM_000245.4(MET):c.3126A>G (p.Ile1042Met)
|
rs1237033724
|
|
NM_000245.4(MET):c.3127T>C (p.Ser1043Pro)
|
rs2117030729
|
|
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr)
|
rs1267419620
|
|
NM_000245.4(MET):c.312A>C (p.Lys104Asn)
|
rs1554378412
|
|
NM_000245.4(MET):c.312A>T (p.Lys104Asn)
|
rs1554378412
|
|
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys)
|
rs1357266763
|
|
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
|
|
|
NM_000245.4(MET):c.3131_3143del (p.Ser1044fs)
|
|
|
NM_000245.4(MET):c.3132T>A (p.Ser1044Arg)
|
rs746291237
|
|
NM_000245.4(MET):c.3135A>G (p.Pro1045=)
|
rs1584957836
|
|
NM_000245.4(MET):c.3138A>G (p.Leu1046=)
|
|
|
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro)
|
rs1794950215
|
|
NM_000245.4(MET):c.3143A>G (p.Gln1048Arg)
|
|
|
NM_000245.4(MET):c.3148A>G (p.Thr1050Ala)
|
rs1794950502
|
|
NM_000245.4(MET):c.3149C>A (p.Thr1050Asn)
|
rs1179812872
|
|
NM_000245.4(MET):c.3149C>T (p.Thr1050Ile)
|
rs1179812872
|
|
NM_000245.4(MET):c.3150T>A (p.Thr1050=)
|
|
|
NM_000245.4(MET):c.3150T>C (p.Thr1050=)
|
|
|
NM_000245.4(MET):c.3151G>A (p.Val1051Ile)
|
rs775997318
|
|
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
|
|
|
NM_000245.4(MET):c.3151G>T (p.Val1051Phe)
|
|
|
NM_000245.4(MET):c.3156_3166del (p.His1052fs)
|
|
|
NM_000245.4(MET):c.3157A>G (p.Ile1053Val)
|
rs1278254320
|
|
NM_000245.4(MET):c.3158T>C (p.Ile1053Thr)
|
|
|
NM_000245.4(MET):c.3160G>A (p.Asp1054Asn)
|
rs2117031109
|
|
NM_000245.4(MET):c.3160G>T (p.Asp1054Tyr)
|
|
|
NM_000245.4(MET):c.3161A>T (p.Asp1054Val)
|
rs2117031126
|
|
NM_000245.4(MET):c.3162C>A (p.Asp1054Glu)
|
|
|
NM_000245.4(MET):c.3162C>T (p.Asp1054=)
|
rs1166344170
|
|
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile)
|
rs1060503534
|
|
NM_000245.4(MET):c.3163C>G (p.Leu1055Val)
|
rs1060503534
|
|
NM_000245.4(MET):c.3166A>G (p.Ser1056Gly)
|
|
|
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
|
|
|
NM_000245.4(MET):c.3175A>C (p.Asn1059His)
|
rs1794951633
|
|
NM_000245.4(MET):c.3181G>A (p.Glu1061Lys)
|
rs2117031426
|
|
NM_000245.4(MET):c.3181G>C (p.Glu1061Gln)
|
rs2117031426
|
|
NM_000245.4(MET):c.3183G>A (p.Glu1061=)
|
rs1554398889
|
|
NM_000245.4(MET):c.3183G>C (p.Glu1061Asp)
|
rs1554398889
|
|
NM_000245.4(MET):c.3184C>T (p.Leu1062=)
|
|
|
NM_000245.4(MET):c.3186G>A (p.Leu1062=)
|
rs1584957891
|
|
NM_000245.4(MET):c.318T>C (p.Asn106=)
|
|
|
NM_000245.4(MET):c.3192G>A (p.Gln1064=)
|
|
|
NM_000245.4(MET):c.3194C>T (p.Ala1065Val)
|
rs2117031577
|
|
NM_000245.4(MET):c.3197T>A (p.Val1066Glu)
|
rs2117031615
|
|
NM_000245.4(MET):c.3198G>A (p.Val1066=)
|
rs1162352573
|
|
NM_000245.4(MET):c.3199C>G (p.Gln1067Glu)
|
rs45628136
|
|
NM_000245.4(MET):c.31A>G (p.Ile11Val)
|
rs1584875601
|
|
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu)
|
rs1554398900
|
|
NM_000245.4(MET):c.3201G>A (p.Gln1067=)
|
rs1447318689
|
|
NM_000245.4(MET):c.3202C>T (p.His1068Tyr)
|
rs1330566980
|
|
NM_000245.4(MET):c.3203A>C (p.His1068Pro)
|
rs767587065
|
|
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
|
|
|
NM_000245.4(MET):c.3204T>A (p.His1068Gln)
|
rs1397743069
|
|
NM_000245.4(MET):c.3204T>G (p.His1068Gln)
|
rs1397743069
|
|
NM_000245.4(MET):c.3206T>C (p.Val1069Ala)
|
rs1794953455
|
|
NM_000245.4(MET):c.3208G>T (p.Val1070Leu)
|
rs760285693
|
|
NM_000245.4(MET):c.3214G>A (p.Gly1072Arg)
|
|
|
NM_000245.4(MET):c.3215G>A (p.Gly1072Glu)
|
rs1584957937
|
|
NM_000245.4(MET):c.3215G>C (p.Gly1072Ala)
|
|
|
NM_000245.4(MET):c.3216G>T (p.Gly1072=)
|
rs2117031874
|
|
NM_000245.4(MET):c.3217C>A (p.Pro1073Thr)
|
|
|
NM_000245.4(MET):c.3219C>T (p.Pro1073=)
|
rs1794954190
|
|
NM_000245.4(MET):c.321A>G (p.Leu107=)
|
rs1040920548
|
|
NM_000245.4(MET):c.321A>T (p.Leu107Phe)
|
rs1040920548
|
|
NM_000245.4(MET):c.3222T>C (p.Ser1074=)
|
rs2117031958
|
|
NM_000245.4(MET):c.3230T>A (p.Ile1077Asn)
|
|
|
NM_000245.4(MET):c.3231T>G (p.Ile1077Met)
|
rs1251215478
|
|
NM_000245.4(MET):c.3233T>C (p.Val1078Ala)
|
|
|
NM_000245.4(MET):c.3234G>A (p.Val1078=)
|
|
|
NM_000245.4(MET):c.3236A>C (p.His1079Pro)
|
rs758292223
|
|
NM_000245.4(MET):c.3240C>T (p.Phe1080=)
|
|
|
NM_000245.4(MET):c.3244G>A (p.Glu1082Lys)
|
|
|
NM_000245.4(MET):c.3245A>T (p.Glu1082Val)
|
|
|
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)
|
rs1794955289
|
|
NM_000245.4(MET):c.3247G>A (p.Val1083Ile)
|
rs1794955378
|
|
NM_000245.4(MET):c.324A>G (p.Ser108=)
|
|
|
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu)
|
rs1562931818
|
|
NM_000245.4(MET):c.3254G>C (p.Gly1085Ala)
|
|
|
NM_000245.4(MET):c.3257G>A (p.Arg1086Lys)
|
rs2117032447
|
|
NM_000245.4(MET):c.3259+10T>C
|
rs2117032551
|
|
NM_000245.4(MET):c.3259+4A>G
|
|
|
NM_000245.4(MET):c.3259+5G>A
|
rs1794955894
|
|
NM_000245.4(MET):c.3259+9T>C
|
rs1794955980
|
|
NM_000245.4(MET):c.3260-11C>A
|
rs1795027494
|
|
NM_000245.4(MET):c.3260-12del
|
|
|
NM_000245.4(MET):c.3260-24_3260-14del
|
rs760284924
|
|
NM_000245.4(MET):c.3260-4A>C
|
rs864622521
|
|
NM_000245.4(MET):c.3263A>G (p.His1088Arg)
|
rs786204102
|
|
NM_000245.4(MET):c.3268G>T (p.Gly1090Cys)
|
|
|
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg)
|
rs751556706
|
|
NM_000245.4(MET):c.3274G>T (p.Val1092Leu)
|
|
|
NM_000245.4(MET):c.3279T>C (p.Tyr1093=)
|
|
|
NM_000245.4(MET):c.3280C>T (p.His1094Tyr)
|
rs121913244
|
|
NM_000245.4(MET):c.3282T>G (p.His1094Gln)
|
rs1185332869
|
|
NM_000245.4(MET):c.3284G>A (p.Gly1095Glu)
|
rs1795029105
|
|
NM_000245.4(MET):c.3284G>C (p.Gly1095Ala)
|
rs1795029105
|
|
NM_000245.4(MET):c.3287C>G (p.Thr1096Ser)
|
rs45592846
|
|
NM_000245.4(MET):c.3287C>T (p.Thr1096Ile)
|
rs45592846
|
|
NM_000245.4(MET):c.328G>A (p.Gly110Ser)
|
|
|
NM_000245.4(MET):c.3291G>T (p.Leu1097Phe)
|
rs2117039952
|
|
NM_000245.4(MET):c.3294G>A (p.Leu1098=)
|
rs2117039979
|
|
NM_000245.4(MET):c.3295G>A (p.Asp1099Asn)
|
|
|
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser)
|
rs1795029901
|
|
NM_000245.4(MET):c.3300T>C (p.Asn1100=)
|
rs1554399341
|
|
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn)
|
rs749678495
|
|
NM_000245.4(MET):c.3302A>G (p.Asp1101Gly)
|
|
|
NM_000245.4(MET):c.3303T>C (p.Asp1101=)
|
|
|
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
|
|
|
NM_000245.4(MET):c.3305G>A (p.Gly1102Asp)
|
rs1060503533
|
|
NM_000245.4(MET):c.3306C>A (p.Gly1102=)
|
rs2117040150
|
|
NM_000245.4(MET):c.3309G>A (p.Lys1103=)
|
rs2117040173
|
|
NM_000245.4(MET):c.330T>C (p.Gly110=)
|
|
|
NM_000245.4(MET):c.3312A>C (p.Lys1104Asn)
|
|
|
NM_000245.4(MET):c.3312A>G (p.Lys1104=)
|
rs1584959967
|
|
NM_000245.4(MET):c.3313A>G (p.Ile1105Val)
|
rs2117040207
|
|
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
|
|
|
NM_000245.4(MET):c.3316C>T (p.His1106Tyr)
|
rs1795030662
|
|
NM_000245.4(MET):c.3321T>C (p.Cys1107=)
|
rs1584959989
|
|
NM_000245.4(MET):c.3324T>C (p.Ala1108=)
|
|
|
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
|
|
|
NM_000245.4(MET):c.3326T>A (p.Val1109Glu)
|
|
|
NM_000245.4(MET):c.3327G>A (p.Val1109=)
|
rs2117040350
|
|
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys)
|
rs1584960002
|
|
NM_000245.4(MET):c.3336G>A (p.Leu1112=)
|
rs1488332998
|
|
NM_000245.4(MET):c.3338A>T (p.Asn1113Ile)
|
rs2117040446
|
|
NM_000245.4(MET):c.3339C>G (p.Asn1113Lys)
|
rs1214629015
|
|
NM_000245.4(MET):c.3339C>T (p.Asn1113=)
|
rs1214629015
|
|
NM_000245.4(MET):c.3340+13T>G
|
|
|
NM_000245.4(MET):c.3340+15A>G
|
|
|
NM_000245.4(MET):c.3340+16T>G
|
|
|
NM_000245.4(MET):c.3340+2dup
|
rs1554399352
|
|
NM_000245.4(MET):c.3340+5G>A
|
|
|
NM_000245.4(MET):c.3340+5del
|
|
|
NM_000245.4(MET):c.3340+6T>A
|
|
|
NM_000245.4(MET):c.3340+6T>C
|
rs1240062915
|
|
NM_000245.4(MET):c.3340+7G>A
|
rs2117040526
|
|
NM_000245.4(MET):c.3340+8G>A
|
rs541156628
|
|
NM_000245.4(MET):c.3341-10G>A
|
rs1281663962
|
|
NM_000245.4(MET):c.3341-10G>T
|
rs1281663962
|
|
NM_000245.4(MET):c.3341-11G>A
|
|
|
NM_000245.4(MET):c.3341-14A>C
|
|
|
NM_000245.4(MET):c.3341-15C>G
|
|
|
NM_000245.4(MET):c.3341-18C>T
|
rs959432467
|
|
NM_000245.4(MET):c.3341-19C>G
|
|
|
NM_000245.4(MET):c.3341-8T>C
|
rs1323109627
|
|
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu)
|
rs2117044727
|
|
NM_000245.4(MET):c.3344T>C (p.Ile1115Thr)
|
rs1795065701
|
|
NM_000245.4(MET):c.3345C>T (p.Ile1115=)
|
rs1554399534
|
|
NM_000245.4(MET):c.3346A>G (p.Thr1116Ala)
|
rs2117044784
|
|
NM_000245.4(MET):c.3348T>G (p.Thr1116=)
|
rs2117044816
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
NM_000245.4(MET):c.3353T>C (p.Ile1118Thr)
|
rs1795065976
|
|
NM_000245.4(MET):c.3354A>C (p.Ile1118=)
|
|
|
NM_000245.4(MET):c.3356_3358del (p.Gly1119del)
|
rs1584961122
|
|
NM_000245.4(MET):c.3362T>C (p.Val1121Ala)
|
|
|
NM_000245.4(MET):c.3365C>A (p.Ser1122Tyr)
|
|
|
NM_000245.4(MET):c.3367C>T (p.Gln1123Ter)
|
|
|
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg)
|
rs2117045243
|
|
NM_000245.4(MET):c.3369A>G (p.Gln1123=)
|
|
|
NM_000245.4(MET):c.3372T>C (p.Phe1124=)
|
rs2117045349
|
|
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
|
|
|
NM_000245.4(MET):c.3379G>A (p.Glu1127Lys)
|
rs1158021755
|
|
NM_000245.4(MET):c.3381G>A (p.Glu1127=)
|
|
|
NM_000245.4(MET):c.3382G>A (p.Gly1128Arg)
|
|
|
NM_000245.4(MET):c.3384A>G (p.Gly1128=)
|
|
|
NM_000245.4(MET):c.3387C>A (p.Ile1129=)
|
|
|
NM_000245.4(MET):c.3387C>T (p.Ile1129=)
|
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
NM_000245.4(MET):c.3397G>A (p.Asp1133Asn)
|
rs745437003
|
|
NM_000245.4(MET):c.3397G>T (p.Asp1133Tyr)
|
rs745437003
|
|
NM_000245.4(MET):c.3399T>C (p.Asp1133=)
|
rs2117046045
|
|
NM_000245.4(MET):c.339A>G (p.Lys113=)
|
rs2116586309
|
|
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
|
|
|
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn)
|
rs1795069423
|
|
NM_000245.4(MET):c.3405T>G (p.Ser1135Arg)
|
rs1554399556
|
|
NM_000245.4(MET):c.3408T>C (p.His1136=)
|
rs202110450
|
|
NM_000245.4(MET):c.3409C>A (p.Pro1137Thr)
|
|
|
NM_000245.4(MET):c.340G>A (p.Asp114Asn)
|
rs2116586335
|
|
NM_000245.4(MET):c.340G>T (p.Asp114Tyr)
|
rs2116586335
|
|
NM_000245.4(MET):c.3410C>T (p.Pro1137Leu)
|
rs2117046293
|
|
NM_000245.4(MET):c.3411C>T (p.Pro1137=)
|
|
|
NM_000245.4(MET):c.3413A>T (p.Asn1138Ile)
|
rs2117046370
|
|
NM_000245.4(MET):c.3414T>C (p.Asn1138=)
|
rs769474791
|
|
NM_000245.4(MET):c.3415G>A (p.Val1139Ile)
|
rs1795069790
|
|
NM_000245.4(MET):c.3415G>T (p.Val1139Phe)
|
|
|
NM_000245.4(MET):c.3417C>G (p.Val1139=)
|
rs2117046480
|
|
NM_000245.4(MET):c.3418C>T (p.Leu1140Phe)
|
rs1333930330
|
|
NM_000245.4(MET):c.3420C>T (p.Leu1140=)
|
|
|
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln)
|
rs1795070394
|
|
NM_000245.4(MET):c.3432A>G (p.Gly1144=)
|
|
|
NM_000245.4(MET):c.3437G>A (p.Cys1146Tyr)
|
rs1795070664
|
|
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
|
|
|
NM_000245.4(MET):c.3439C>T (p.Leu1147=)
|
rs1795070786
|
|
NM_000245.4(MET):c.343A>G (p.Asn115Asp)
|
|
|
NM_000245.4(MET):c.3441G>C (p.Leu1147=)
|
rs200456335
|
|
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter)
|
rs879254336
|
|
NM_000245.4(MET):c.3443del (p.Arg1148fs)
|
|
|
NM_000245.4(MET):c.3446G>A (p.Ser1149Asn)
|
rs1795071435
|
|
NM_000245.4(MET):c.3446G>C (p.Ser1149Thr)
|
rs1795071435
|
|
NM_000245.4(MET):c.3453G>T (p.Gly1151=)
|
|
|
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu)
|
rs1795071897
|
|
NM_000245.4(MET):c.3459G>T (p.Pro1153=)
|
|
|
NM_000245.4(MET):c.345C>G (p.Asn115Lys)
|
|
|
NM_000245.4(MET):c.3462G>C (p.Leu1154=)
|
|
|
NM_000245.4(MET):c.3467T>C (p.Val1156Ala)
|
rs2117047452
|
|
NM_000245.4(MET):c.3468C>T (p.Val1156=)
|
rs2117047472
|
|
NM_000245.4(MET):c.346A>G (p.Ile116Val)
|
rs1554378434
|
|
NM_000245.4(MET):c.3471A>C (p.Leu1157=)
|
|
|
NM_000245.4(MET):c.3475T>C (p.Tyr1159His)
|
rs2117047603
|
|
NM_000245.4(MET):c.3478A>G (p.Met1160Val)
|
rs1554399597
|
|
NM_000245.4(MET):c.347T>A (p.Ile116Asn)
|
|
|
NM_000245.4(MET):c.3486T>C (p.His1162=)
|
rs765565377
|
|
NM_000245.4(MET):c.3488G>A (p.Gly1163Glu)
|
rs879254338
|
|
NM_000245.4(MET):c.348C>G (p.Ile116Met)
|
rs2116586543
|
|
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
|
|
|
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter)
|
rs1795073205
|
|
NM_000245.4(MET):c.3500A>G (p.Asn1167Ser)
|
|
|
NM_000245.4(MET):c.3501T>C (p.Asn1167=)
|
|
|
NM_000245.4(MET):c.3503T>C (p.Phe1168Ser)
|
|
|
NM_000245.4(MET):c.3504C>T (p.Phe1168=)
|
rs2117048132
|
|
NM_000245.4(MET):c.3505A>C (p.Ile1169Leu)
|
|
|
NM_000245.4(MET):c.3505A>G (p.Ile1169Val)
|
rs752109953
|
|
NM_000245.4(MET):c.3508C>A (p.Arg1170=)
|
rs200754673
|
|
NM_000245.4(MET):c.3508C>G (p.Arg1170Gly)
|
rs200754673
|
|
NM_000245.4(MET):c.3509G>C (p.Arg1170Pro)
|
rs369838973
|
|
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu)
|
rs369838973
|
|
NM_000245.4(MET):c.350A>G (p.Asn117Ser)
|
|
|
NM_000245.4(MET):c.3513T>G (p.Asn1171Lys)
|
|
|
NM_000245.4(MET):c.3516G>A (p.Glu1172=)
|
|
|
NM_000245.4(MET):c.3518C>G (p.Thr1173Ser)
|
rs121913675
|
|
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
NM_000245.4(MET):c.3520C>T (p.His1174Tyr)
|
rs1795074297
|
|
NM_000245.4(MET):c.3522+10C>T
|
|
|
NM_000245.4(MET):c.3522+11T>C
|
rs201726372
|
|
NM_000245.4(MET):c.3522+14C>G
|
|
|
NM_000245.4(MET):c.3522+18C>T
|
|
|
NM_000245.4(MET):c.3522+19T>C
|
|
|
NM_000245.4(MET):c.3522+8G>A
|
|
|
NM_000245.4(MET):c.3522+8G>C
|
|
|
NM_000245.4(MET):c.3522+9A>G
|
|
|
NM_000245.4(MET):c.3523-10T>C
|
rs2117059286
|
|
NM_000245.4(MET):c.3523-12C>T
|
|
|
NM_000245.4(MET):c.3523-14C>T
|
|
|
NM_000245.4(MET):c.3523-16CT[2]
|
|
|
NM_000245.4(MET):c.3523-19T>C
|
|
|
NM_000245.4(MET):c.3523-3C>T
|
rs763246917
|
|
NM_000245.4(MET):c.3523-4G>A
|
|
|
NM_000245.4(MET):c.3523-6C>T
|
rs1554400069
|
|
NM_000245.4(MET):c.3523A>C (p.Asn1175His)
|
|
|
NM_000245.4(MET):c.3524A>C (p.Asn1175Thr)
|
rs1554400071
|
|
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
|
|
|
NM_000245.4(MET):c.3529A>G (p.Thr1177Ala)
|
|
|
NM_000245.4(MET):c.352A>G (p.Met118Val)
|
rs1060503538
|
|
NM_000245.4(MET):c.3531T>G (p.Thr1177=)
|
rs1584964218
|
|
NM_000245.4(MET):c.3532G>A (p.Val1178Ile)
|
rs1584964221
|
|
NM_000245.4(MET):c.3534A>T (p.Val1178=)
|
rs544545520
|
|
NM_000245.4(MET):c.3538G>T (p.Asp1180Tyr)
|
|
|
NM_000245.4(MET):c.353T>C (p.Met118Thr)
|
|
|
NM_000245.4(MET):c.353T>G (p.Met118Arg)
|
rs2116586678
|
|
NM_000245.4(MET):c.3544A>G (p.Ile1182Val)
|
rs1795171767
|
|
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr)
|
rs1795171887
|
|
NM_000245.4(MET):c.3547G>A (p.Gly1183Ser)
|
|
|
NM_000245.4(MET):c.3548G>A (p.Gly1183Asp)
|
|
|
NM_000245.4(MET):c.354G>A (p.Met118Ile)
|
rs1562883374
|
|
NM_000245.4(MET):c.3552T>C (p.Phe1184=)
|
rs765771575
|
|
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_000245.4(MET):c.3555T>C (p.Gly1185=)
|
rs2117059754
|
|
NM_000245.4(MET):c.3561A>T (p.Gln1187His)
|
|
|
NM_000245.4(MET):c.3562G>A (p.Val1188Ile)
|
rs121913669
|
|
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)
|
rs121913669
|
|
NM_000245.4(MET):c.3563_3564del (p.Val1188fs)
|
rs1562935204
|
|
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr)
|
rs1348453406
|
|
NM_000245.4(MET):c.3568A>G (p.Lys1190Glu)
|
|
|
NM_000245.4(MET):c.3573C>T (p.Gly1191=)
|
|
|
NM_000245.4(MET):c.3576G>C (p.Met1192Ile)
|
|
|
NM_000245.4(MET):c.3578A>G (p.Lys1193Arg)
|
|
|
NM_000245.4(MET):c.3582T>C (p.Tyr1194=)
|
rs1584964312
|
|
NM_000245.4(MET):c.3583C>G (p.Leu1195Val)
|
rs121913673
|
|
NM_000245.4(MET):c.3583C>T (p.Leu1195Phe)
|
rs121913673
|
|
NM_000245.4(MET):c.3584T>A (p.Leu1195His)
|
|
|
NM_000245.4(MET):c.3588A>G (p.Ala1196=)
|
|
|
NM_000245.4(MET):c.3589A>G (p.Ser1197Gly)
|
|
|
NM_000245.4(MET):c.3589A>T (p.Ser1197Cys)
|
rs2117060265
|
|
NM_000245.4(MET):c.358C>G (p.Leu120Val)
|
|
|
NM_000245.4(MET):c.3592A>G (p.Lys1198Glu)
|
rs2117060312
|
|
NM_000245.4(MET):c.3596A>G (p.Lys1199Arg)
|
rs2117060357
|
|
NM_000245.4(MET):c.3598T>C (p.Phe1200Leu)
|
rs1554400099
|
|
NM_000245.4(MET):c.3601G>A (p.Val1201Ile)
|
rs778646229
|
|
NM_000245.4(MET):c.3603C>A (p.Val1201=)
|
rs1484737027
|
|
NM_000245.4(MET):c.360A>G (p.Leu120=)
|
|
|
NM_000245.4(MET):c.3612C>G (p.Asp1204Glu)
|
|
|
NM_000245.4(MET):c.3616G>A (p.Ala1206Thr)
|
rs2117060579
|
|
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
|
|
|
NM_000245.4(MET):c.361G>A (p.Val121Ile)
|
|
|
NM_000245.4(MET):c.3621A>G (p.Ala1207=)
|
rs747811080
|
|
NM_000245.4(MET):c.3632+10A>C
|
|
|
NM_000245.4(MET):c.3632+17C>G
|
rs758230781
|
|
NM_000245.4(MET):c.3632+17C>T
|
rs758230781
|
|
NM_000245.4(MET):c.3632+20T>A
|
rs2117060902
|
|
NM_000245.4(MET):c.3632+7A>C
|
rs1795175584
|
|
NM_000245.4(MET):c.3632+9C>G
|
rs1584964366
|
|
NM_000245.4(MET):c.3633-11C>A
|
|
|
NM_000245.4(MET):c.3633-13G>A
|
|
|
NM_000245.4(MET):c.3633-18T>C
|
|
|
NM_000245.4(MET):c.3633-2A>G
|
rs879254337
|
|
NM_000245.4(MET):c.3633-4G>A
|
rs1477354447
|
|
NM_000245.4(MET):c.3634C>A (p.Leu1212Met)
|
|
|
NM_000245.4(MET):c.3636G>A (p.Leu1212=)
|
|
|
NM_000245.4(MET):c.3636G>T (p.Leu1212=)
|
|
|
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys)
|
rs1261418076
|
|
NM_000245.4(MET):c.3648C>A (p.Phe1216Leu)
|
rs1584965464
|
|
NM_000245.4(MET):c.364G>A (p.Val122Ile)
|
rs2116586974
|
|
NM_000245.4(MET):c.3651A>C (p.Thr1217=)
|
|
|
NM_000245.4(MET):c.3651A>G (p.Thr1217=)
|
|
|
NM_000245.4(MET):c.3653T>C (p.Val1218Ala)
|
rs1191381216
|
|
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
|
|
|
NM_000245.4(MET):c.3657G>C (p.Lys1219Asn)
|
rs1795207276
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000245.4(MET):c.365T>C (p.Val122Ala)
|
|
|
NM_000245.4(MET):c.3661_3662delinsAT (p.Ala1221Ile)
|
|
|
NM_000245.4(MET):c.3678C>T (p.Ala1226=)
|
rs1584965488
|
|
NM_000245.4(MET):c.3679A>G (p.Arg1227Gly)
|
rs2117065927
|
|
NM_000245.4(MET):c.367G>A (p.Asp123Asn)
|
rs760106468
|
|
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)
|
rs121913671
|
|
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
|
|
|
NM_000245.4(MET):c.3687G>A (p.Met1229Ile)
|
|
|
NM_000245.4(MET):c.3688T>C (p.Tyr1230His)
|
rs121913247
|
|
NM_000245.4(MET):c.3688T>G (p.Tyr1230Asp)
|
rs121913247
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.368A>T (p.Asp123Val)
|
|
|
NM_000245.4(MET):c.3690T>C (p.Tyr1230=)
|
rs1584965524
|
|
NM_000245.4(MET):c.3691G>A (p.Asp1231Asn)
|
rs1168862161
|
|
NM_000245.4(MET):c.369C>T (p.Asp123=)
|
rs1417054613
|
|
NM_000245.4(MET):c.36C>A (p.Leu12=)
|
rs188625702
|
|
NM_000245.4(MET):c.3704A>G (p.Tyr1235Cys)
|
|
|
NM_000245.4(MET):c.3709G>A (p.Val1237Ile)
|
rs1031263507
|
|
NM_000245.4(MET):c.3709G>T (p.Val1237Leu)
|
|
|
NM_000245.4(MET):c.3713A>T (p.His1238Leu)
|
rs1562935856
|
|
NM_000245.4(MET):c.3714C>G (p.His1238Gln)
|
|
|
NM_000245.4(MET):c.3717C>A (p.Asn1239Lys)
|
rs2117066535
|
|
NM_000245.4(MET):c.3719A>G (p.Lys1240Arg)
|
|
|
NM_000245.4(MET):c.371C>A (p.Thr124Asn)
|
|
|
NM_000245.4(MET):c.371C>T (p.Thr124Ile)
|
rs1791477416
|
|
NM_000245.4(MET):c.3725G>T (p.Gly1242Val)
|
rs776086430
|
|
NM_000245.4(MET):c.3726T>A (p.Gly1242=)
|
rs2117066669
|
|
NM_000245.4(MET):c.3726T>C (p.Gly1242=)
|
rs2117066669
|
|
NM_000245.4(MET):c.372C>G (p.Thr124=)
|
rs574911056
|
|
NM_000245.4(MET):c.372C>T (p.Thr124=)
|
|
|
NM_000245.4(MET):c.3731A>C (p.Lys1244Thr)
|
rs121913677
|
|
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)
|
rs121913677
|
|
NM_000245.4(MET):c.3739G>A (p.Val1247Met)
|
rs1562935903
|
|
NM_000245.4(MET):c.373T>A (p.Tyr125Asn)
|
|
|
NM_000245.4(MET):c.3741G>C (p.Val1247=)
|
rs1584965646
|
|
NM_000245.4(MET):c.3744G>A (p.Lys1248=)
|
rs2117066950
|
|
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
|
|
|
NM_000245.4(MET):c.3749T>C (p.Met1250Thr)
|
rs121913245
|
|
NM_000245.4(MET):c.374A>G (p.Tyr125Cys)
|
|
|
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)
|
rs121913676
|
|
NM_000245.4(MET):c.3757G>A (p.Glu1253Lys)
|
|
|
NM_000245.4(MET):c.3760A>C (p.Ser1254Arg)
|
|
|
NM_000245.4(MET):c.3765G>A (p.Leu1255=)
|
rs1584965685
|
|
NM_000245.4(MET):c.3765G>C (p.Leu1255=)
|
rs1584965685
|
|
NM_000245.4(MET):c.3767A>G (p.Gln1256Arg)
|
|
|
NM_000245.4(MET):c.376T>C (p.Tyr126His)
|
|
|
NM_000245.4(MET):c.3772C>T (p.Gln1258Ter)
|
rs1795213262
|
|
NM_000245.4(MET):c.3778T>C (p.Phe1260Leu)
|
|
|
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
|
|
|
NM_000245.4(MET):c.3783C>G (p.Thr1261=)
|
|
|
NM_000245.4(MET):c.3784A>G (p.Thr1262Ala)
|
|
|
NM_000245.4(MET):c.3789G>A (p.Lys1263=)
|
|
|
NM_000245.4(MET):c.378T>C (p.Tyr126=)
|
rs2116587316
|
|
NM_000245.4(MET):c.3790T>A (p.Ser1264Thr)
|
|
|
NM_000245.4(MET):c.3790T>C (p.Ser1264Pro)
|
rs1795214265
|
|
NM_000245.4(MET):c.3794A>T (p.Asp1265Val)
|
rs2117067679
|
|
NM_000245.4(MET):c.3795T>C (p.Asp1265=)
|
rs2117067697
|
|
NM_000245.4(MET):c.3797T>A (p.Val1266Glu)
|
rs2117067730
|
|
NM_000245.4(MET):c.3798+11G>A
|
|
|
NM_000245.4(MET):c.3798+12G>A
|
|
|
NM_000245.4(MET):c.3798+12G>C
|
rs1001362196
|
|
NM_000245.4(MET):c.3798+15A>T
|
rs769814035
|
|
NM_000245.4(MET):c.3798+1G>A
|
rs1795214615
|
|
NM_000245.4(MET):c.3798+6G>A
|
rs2117067806
|
|
NM_000245.4(MET):c.3798+9T>C
|
|
|
NM_000245.4(MET):c.3799-11del
|
|
|
NM_000245.4(MET):c.3799-12T>C
|
|
|
NM_000245.4(MET):c.3799-15T>G
|
rs1297603367
|
|
NM_000245.4(MET):c.3799-17G>A
|
|
|
NM_000245.4(MET):c.3799-17G>C
|
|
|
NM_000245.4(MET):c.3799-18del
|
|
|
NM_000245.4(MET):c.3799-19C>G
|
|
|
NM_000245.4(MET):c.3799-19C>T
|
|
|
NM_000245.4(MET):c.3799-3T>A
|
rs1584977801
|
|
NM_000245.4(MET):c.3799-4C>T
|
rs2117107162
|
|
NM_000245.4(MET):c.3799-8T>C
|
|
|
NM_000245.4(MET):c.379G>A (p.Asp127Asn)
|
|
|
NM_000245.4(MET):c.379G>C (p.Asp127His)
|
rs1584876615
|
|
NM_000245.4(MET):c.37G>C (p.Val13Leu)
|
|
|
NM_000245.4(MET):c.37G>T (p.Val13Leu)
|
|
|
NM_000245.4(MET):c.3807T>C (p.Phe1269=)
|
rs1554402156
|
|
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser)
|
rs727504014
|
|
NM_000245.4(MET):c.3810C>G (p.Gly1270=)
|
rs200865810
|
|
NM_000245.4(MET):c.3812T>A (p.Val1271Glu)
|
|
|
NM_000245.4(MET):c.3816C>A (p.Leu1272=)
|
rs757012119
|
|
NM_000245.4(MET):c.3816C>T (p.Leu1272=)
|
|
|
NM_000245.4(MET):c.3817del (p.Leu1273fs)
|
|
|
NM_000245.4(MET):c.3819C>G (p.Leu1273=)
|
|
|
NM_000245.4(MET):c.3819C>T (p.Leu1273=)
|
|
|
NM_000245.4(MET):c.381T>A (p.Asp127Glu)
|
rs2116587402
|
|
NM_000245.4(MET):c.3821G>A (p.Trp1274Ter)
|
|
|
NM_000245.4(MET):c.3828G>A (p.Leu1276=)
|
|
|
NM_000245.4(MET):c.382G>A (p.Asp128Asn)
|
|
|
NM_000245.4(MET):c.3834A>C (p.Thr1278=)
|
rs1584977880
|
|
NM_000245.4(MET):c.3837A>G (p.Arg1279=)
|
|
|
NM_000245.4(MET):c.3838G>A (p.Gly1280Arg)
|
|
|
NM_000245.4(MET):c.383A>G (p.Asp128Gly)
|
rs1554378477
|
|
NM_000245.4(MET):c.3841G>A (p.Ala1281Thr)
|
|
|
NM_000245.4(MET):c.3842C>T (p.Ala1281Val)
|
rs750337451
|
|
NM_000245.4(MET):c.3844C>T (p.Pro1282Ser)
|
|
|
NM_000245.4(MET):c.3846A>T (p.Pro1282=)
|
|
|
NM_000245.4(MET):c.3848dup (p.Tyr1284fs)
|
|
|
NM_000245.4(MET):c.3853C>A (p.Pro1285Thr)
|
|
|
NM_000245.4(MET):c.3855T>C (p.Pro1285=)
|
rs1584977903
|
|
NM_000245.4(MET):c.3858C>G (p.Asp1286Glu)
|
|
|
NM_000245.4(MET):c.3860T>G (p.Val1287Gly)
|
|
|
NM_000245.4(MET):c.3861A>G (p.Val1287=)
|
rs749438942
|
|
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser)
|
rs1584977945
|
|
NM_000245.4(MET):c.3867C>T (p.Thr1289=)
|
rs587780532
|
|
NM_000245.4(MET):c.386A>C (p.Gln129Pro)
|
rs1791478036
|
|
NM_000245.4(MET):c.3870T>C (p.Phe1290=)
|
rs926365001
|
|
NM_000245.4(MET):c.3871G>C (p.Asp1291His)
|
|
|
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
|
|
|
NM_000245.4(MET):c.3874A>G (p.Ile1292Val)
|
|
|
NM_000245.4(MET):c.3876A>G (p.Ile1292Met)
|
rs786204044
|
|
NM_000245.4(MET):c.3879T>A (p.Thr1293=)
|
rs1554402170
|
|
NM_000245.4(MET):c.387A>G (p.Gln129=)
|
rs1791478119
|
|
NM_000245.4(MET):c.387A>T (p.Gln129His)
|
rs1791478119
|
|
NM_000245.4(MET):c.3885C>T (p.Tyr1295=)
|
rs1795648934
|
|
NM_000245.4(MET):c.3889T>C (p.Leu1297=)
|
rs1584977995
|
|
NM_000245.4(MET):c.388C>T (p.Leu130Phe)
|
rs1584876640
|
|
NM_000245.4(MET):c.3891G>A (p.Leu1297=)
|
rs1584977997
|
|
NM_000245.4(MET):c.3895G>C (p.Gly1299Arg)
|
|
|
NM_000245.4(MET):c.3897G>T (p.Gly1299=)
|
rs2117108701
|
|
NM_000245.4(MET):c.38T>C (p.Val13Ala)
|
|
|
NM_000245.4(MET):c.3905T>C (p.Leu1302Pro)
|
rs2117108825
|
|
NM_000245.4(MET):c.3906C>T (p.Leu1302=)
|
rs1584978021
|
|
NM_000245.4(MET):c.3912A>G (p.Gln1304=)
|
|
|
NM_000245.4(MET):c.3915C>T (p.Pro1305=)
|
rs555099334
|
|
NM_000245.4(MET):c.3921C>T (p.Tyr1307=)
|
rs2117109060
|
|
NM_000245.4(MET):c.3929A>G (p.Asp1310Gly)
|
|
|
NM_000245.4(MET):c.3929A>T (p.Asp1310Val)
|
rs1390590380
|
|
NM_000245.4(MET):c.3930C>A (p.Asp1310Glu)
|
rs773763852
|
|
NM_000245.4(MET):c.3930C>T (p.Asp1310=)
|
rs773763852
|
|
NM_000245.4(MET):c.3933C>A (p.Pro1311=)
|
|
|
NM_000245.4(MET):c.3935+14C>G
|
rs1215580408
|
|
NM_000245.4(MET):c.3935+18A>T
|
|
|
NM_000245.4(MET):c.3935+20C>G
|
|
|
NM_000245.4(MET):c.3935+2T>A
|
rs1562941469
|
|
NM_000245.4(MET):c.3935+3A>G
|
rs1554402183
|
|
NM_000245.4(MET):c.3935+5G>A
|
|
|
NM_000245.4(MET):c.3935+7_3935+8insCCT
|
|
|
NM_000245.4(MET):c.3935+8G>A
|
rs2117109392
|
|
NM_000245.4(MET):c.3936-11T>G
|
|
|
NM_000245.4(MET):c.3936-13C>G
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000245.4(MET):c.3936-17C>G
|
rs2117110177
|
|
NM_000245.4(MET):c.3936-18T>C
|
|
|
NM_000245.4(MET):c.3936-20T>A
|
rs2117110129
|
|
NM_000245.4(MET):c.3936-2A>G
|
rs1795654625
|
|
NM_000245.4(MET):c.3936-8T>G
|
rs1274027255
|
|
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
|
|
|
NM_000245.4(MET):c.393T>A (p.Ile131=)
|
rs1584876662
|
|
NM_000245.4(MET):c.3940G>A (p.Glu1314Lys)
|
rs1395763398
|
|
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
|
|
|
NM_000245.4(MET):c.3945A>T (p.Val1315=)
|
rs879254340
|
|
NM_000245.4(MET):c.395G>A (p.Ser132Asn)
|
rs1791478666
|
|
NM_000245.4(MET):c.395G>T (p.Ser132Ile)
|
rs1791478666
|
|
NM_000245.4(MET):c.3961C>T (p.His1321Tyr)
|
rs1795655626
|
|
NM_000245.4(MET):c.3963C>T (p.His1321=)
|
|
|
NM_000245.4(MET):c.3964C>G (p.Pro1322Ala)
|
rs368312290
|
|
NM_000245.4(MET):c.3964C>T (p.Pro1322Ser)
|
rs368312290
|
|
NM_000245.4(MET):c.3967A>G (p.Lys1323Glu)
|
rs1584978266
|
|
NM_000245.4(MET):c.3968A>G (p.Lys1323Arg)
|
|
|
NM_000245.4(MET):c.3972C>G (p.Ala1324=)
|
|
|
NM_000245.4(MET):c.3978G>A (p.Met1326Ile)
|
rs1795656686
|
|
NM_000245.4(MET):c.3978G>C (p.Met1326Ile)
|
rs1795656686
|
|
NM_000245.4(MET):c.3979C>T (p.Arg1327Cys)
|
rs2117111027
|
|
NM_000245.4(MET):c.3981C>A (p.Arg1327=)
|
|
|
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu)
|
rs755043272
|
|
NM_000245.4(MET):c.3984A>G (p.Pro1328=)
|
|
|
NM_000245.4(MET):c.3985T>A (p.Ser1329Thr)
|
rs2117111134
|
|
NM_000245.4(MET):c.3986C>G (p.Ser1329Cys)
|
rs1398543726
|
|
NM_000245.4(MET):c.3986C>T (p.Ser1329Phe)
|
rs1398543726
|
|
NM_000245.4(MET):c.3987C>T (p.Ser1329=)
|
rs2117111166
|
|
NM_000245.4(MET):c.3989T>C (p.Phe1330Ser)
|
|
|
NM_000245.4(MET):c.3991T>C (p.Ser1331Pro)
|
rs1562941559
|
|
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala)
|
rs1562941559
|
|
NM_000245.4(MET):c.3993T>C (p.Ser1331=)
|
rs2117111260
|
|
NM_000245.4(MET):c.3994G>C (p.Glu1332Gln)
|
rs748382550
|
|
NM_000245.4(MET):c.3998T>G (p.Leu1333Arg)
|
|
|
NM_000245.4(MET):c.3999G>A (p.Leu1333=)
|
|
|
NM_000245.4(MET):c.4000G>T (p.Val1334Leu)
|
rs1795657629
|
|
NM_000245.4(MET):c.4002G>T (p.Val1334=)
|
rs1214651018
|
|
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp)
|
rs1258671501
|
|
NM_000245.4(MET):c.4008G>T (p.Arg1336=)
|
rs373857586
|
|
NM_000245.4(MET):c.4009A>G (p.Ile1337Val)
|
|
|
NM_000245.4(MET):c.4009A>T (p.Ile1337Leu)
|
|
|
NM_000245.4(MET):c.4015G>A (p.Ala1339Thr)
|
|
|
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro)
|
rs1795658722
|
|
NM_000245.4(MET):c.4017G>C (p.Ala1339=)
|
rs2023748
|
|
NM_000245.4(MET):c.401G>A (p.Gly134Asp)
|
rs2116587889
|
|
NM_000245.4(MET):c.4023C>T (p.Phe1341=)
|
rs2117111707
|
|
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys)
|
rs2117111729
|
|
NM_000245.4(MET):c.4027A>G (p.Thr1343Ala)
|
|
|
NM_000245.4(MET):c.4032C>T (p.Phe1344=)
|
|
|
NM_000245.4(MET):c.4035T>C (p.Ile1345=)
|
|
|
NM_000245.4(MET):c.4037G>A (p.Gly1346Glu)
|
rs2117111902
|
|
NM_000245.4(MET):c.403A>T (p.Ser135Cys)
|
rs1791478961
|
|
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp)
|
rs1562941622
|
|
NM_000245.4(MET):c.4044C>T (p.His1348=)
|
rs1386889641
|
|
NM_000245.4(MET):c.4047T>C (p.Tyr1349=)
|
|
|
NM_000245.4(MET):c.4048G>A (p.Val1350Ile)
|
|
|
NM_000245.4(MET):c.404G>A (p.Ser135Asn)
|
rs1203410917
|
|
NM_000245.4(MET):c.4050C>T (p.Val1350=)
|
|
|
NM_000245.4(MET):c.4051C>T (p.His1351Tyr)
|
rs2117112144
|
|
NM_000245.4(MET):c.4052A>C (p.His1351Pro)
|
|
|
NM_000245.4(MET):c.4052A>G (p.His1351Arg)
|
rs1490801483
|
|
NM_000245.4(MET):c.4052A>T (p.His1351Leu)
|
rs1490801483
|
|
NM_000245.4(MET):c.4056G>C (p.Val1352=)
|
|
|
NM_000245.4(MET):c.4058A>T (p.Asn1353Ile)
|
|
|
NM_000245.4(MET):c.4059C>T (p.Asn1353=)
|
rs45571634
|
|
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
|
|
|
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter)
|
rs767214353
|
|
NM_000245.4(MET):c.4074C>A (p.Asn1358Lys)
|
|
|
NM_000245.4(MET):c.4077A>G (p.Val1359=)
|
|
|
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu)
|
rs1795661591
|
|
NM_000245.4(MET):c.4080A>G (p.Lys1360=)
|
|
|
NM_000245.4(MET):c.4086C>A (p.Val1362=)
|
rs753757242
|
|
NM_000245.4(MET):c.4086C>G (p.Val1362=)
|
rs753757242
|
|
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser)
|
rs45578433
|
|
NM_000245.4(MET):c.4092_4093inv (p.Tyr1365His)
|
|
|
NM_000245.4(MET):c.4094A>G (p.Tyr1365Cys)
|
rs1795662590
|
|
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
|
|
|
NM_000245.4(MET):c.4096C>A (p.Pro1366Thr)
|
rs1795662723
|
|
NM_000245.4(MET):c.4098T>G (p.Pro1366=)
|
rs1645508828
|
|
NM_000245.4(MET):c.4103T>C (p.Leu1368Pro)
|
rs2117112993
|
|
NM_000245.4(MET):c.4104G>A (p.Leu1368=)
|
rs1795663226
|
|
NM_000245.4(MET):c.4107G>A (p.Leu1369=)
|
rs1795663624
|
|
NM_000245.4(MET):c.4109C>G (p.Ser1370Ter)
|
|
|
NM_000245.4(MET):c.410A>G (p.Asn137Ser)
|
rs1584876716
|
|
NM_000245.4(MET):c.4110A>C (p.Ser1370=)
|
|
|
NM_000245.4(MET):c.4110A>G (p.Ser1370=)
|
rs1795663778
|
|
NM_000245.4(MET):c.4112C>T (p.Ser1371Leu)
|
|
|
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala)
|
rs1584978594
|
|
NM_000245.4(MET):c.4117G>T (p.Asp1373Tyr)
|
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
NM_000245.4(MET):c.4118A>T (p.Asp1373Val)
|
rs773898036
|
|
NM_000245.4(MET):c.4120A>G (p.Asn1374Asp)
|
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
NM_000245.4(MET):c.4123G>A (p.Ala1375Thr)
|
rs373517956
|
|
NM_000245.4(MET):c.4123G>T (p.Ala1375Ser)
|
rs373517956
|
|
NM_000245.4(MET):c.4124C>T (p.Ala1375Val)
|
|
|
NM_000245.4(MET):c.4126G>A (p.Asp1376Asn)
|
|
|
NM_000245.4(MET):c.4130A>G (p.Asp1377Gly)
|
|
|
NM_000245.4(MET):c.4131T>C (p.Asp1377=)
|
|
|
NM_000245.4(MET):c.4132G>A (p.Glu1378Lys)
|
rs1795665686
|
|
NM_000245.4(MET):c.4135G>A (p.Val1379Met)
|
rs1554402266
|
|
NM_000245.4(MET):c.4136T>G (p.Val1379Gly)
|
rs2117113573
|
|
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu)
|
rs370368651
|
|
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala)
|
rs1292389793
|
|
NM_000245.4(MET):c.4142C>T (p.Thr1381Ile)
|
rs2117113682
|
|
NM_000245.4(MET):c.4144C>A (p.Arg1382=)
|
rs200315561
|
|
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter)
|
rs200315561
|
|
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro)
|
rs752694306
|
|
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu)
|
rs752694306
|
|
NM_000245.4(MET):c.4146A>G (p.Arg1382=)
|
|
|
NM_000245.4(MET):c.4156T>C (p.Phe1386Leu)
|
|
|
NM_000245.4(MET):c.4159T>C (p.Trp1387Arg)
|
|
|
NM_000245.4(MET):c.4162G>A (p.Glu1388Lys)
|
|
|
NM_000245.4(MET):c.4167A>G (p.Thr1389=)
|
rs2117114225
|
|
NM_000245.4(MET):c.4170A>G (p.Ser1390=)
|
rs1584978746
|
|
NM_000245.4(MET):c.4172del (p.Ter1391CysextTer?)
|
rs2117114331
|
|
NM_000245.4(MET):c.424C>G (p.Gln142Glu)
|
rs1554378495
|
|
NM_000245.4(MET):c.425A>G (p.Gln142Arg)
|
rs768640780
|
|
NM_000245.4(MET):c.427C>A (p.Arg143=)
|
rs779093896
|
|
NM_000245.4(MET):c.42C>G (p.Leu14=)
|
rs2116578695
|
|
NM_000245.4(MET):c.434T>C (p.Val145Ala)
|
|
|
NM_000245.4(MET):c.439C>T (p.Pro147Ser)
|
rs2116588845
|
|
NM_000245.4(MET):c.43C>T (p.Leu15=)
|
rs2116578733
|
|
NM_000245.4(MET):c.450T>C (p.His150=)
|
rs2116589122
|
|
NM_000245.4(MET):c.451A>G (p.Thr151Ala)
|
rs2116589147
|
|
NM_000245.4(MET):c.452C>T (p.Thr151Ile)
|
rs1584876832
|
|
NM_000245.4(MET):c.453T>C (p.Thr151=)
|
|
|
NM_000245.4(MET):c.456T>C (p.Ala152=)
|
rs1584876842
|
|
NM_000245.4(MET):c.457G>A (p.Asp153Asn)
|
|
|
NM_000245.4(MET):c.463C>A (p.Gln155Lys)
|
|
|
NM_000245.4(MET):c.464A>G (p.Gln155Arg)
|
rs2116589485
|
|
NM_000245.4(MET):c.465G>T (p.Gln155His)
|
rs863224695
|
|
NM_000245.4(MET):c.466T>C (p.Ser156Pro)
|
rs2116589535
|
|
NM_000245.4(MET):c.466_467insATGT (p.Ser156fs)
|
|
|
NM_000245.4(MET):c.467del (p.Ser156fs)
|
|
|
NM_000245.4(MET):c.468G>A (p.Ser156=)
|
rs576502224
|
|
NM_000245.4(MET):c.468G>C (p.Ser156=)
|
rs576502224
|
|
NM_000245.4(MET):c.471G>A (p.Glu157=)
|
rs1451799154
|
|
NM_000245.4(MET):c.471G>C (p.Glu157Asp)
|
rs1451799154
|
|
NM_000245.4(MET):c.472G>T (p.Val158Phe)
|
rs1227091238
|
|
NM_000245.4(MET):c.473T>C (p.Val158Ala)
|
rs2116589740
|
|
NM_000245.4(MET):c.474T>C (p.Val158=)
|
rs1584876891
|
|
NM_000245.4(MET):c.476A>G (p.His159Arg)
|
|
|
NM_000245.4(MET):c.477C>A (p.His159Gln)
|
rs1584876898
|
|
NM_000245.4(MET):c.478T>C (p.Cys160Arg)
|
|
|
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
|
|
|
NM_000245.4(MET):c.482T>C (p.Ile161Thr)
|
rs1060503532
|
|
NM_000245.4(MET):c.491C>T (p.Pro164Leu)
|
rs1562883575
|
|
NM_000245.4(MET):c.492A>G (p.Pro164=)
|
|
|
NM_000245.4(MET):c.495G>C (p.Gln165His)
|
rs1060503537
|
|
NM_000245.4(MET):c.496A>G (p.Ile166Val)
|
|
|
NM_000245.4(MET):c.497T>G (p.Ile166Arg)
|
rs773830746
|
|
NM_000245.4(MET):c.498A>G (p.Ile166Met)
|
rs2116590397
|
|
NM_000245.4(MET):c.501A>C (p.Glu167Asp)
|
rs1584876986
|
|
NM_000245.4(MET):c.501A>G (p.Glu167=)
|
|
|
NM_000245.4(MET):c.504G>A (p.Glu168=)
|
rs55985569
|
|
NM_000245.4(MET):c.505C>T (p.Pro169Ser)
|
|
|
NM_000245.4(MET):c.508A>G (p.Ser170Gly)
|
|
|
NM_000245.4(MET):c.509G>A (p.Ser170Asn)
|
rs1584877029
|
|
NM_000245.4(MET):c.50C>G (p.Thr17Ser)
|
rs747777018
|
|
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
|
|
|
NM_000245.4(MET):c.519T>C (p.Pro173=)
|
rs2116590943
|
|
NM_000245.4(MET):c.51C>T (p.Thr17=)
|
rs1584875653
|
|
NM_000245.4(MET):c.522C>G (p.Asp174Glu)
|
rs863224696
|
|
NM_000245.4(MET):c.522C>T (p.Asp174=)
|
|
|
NM_000245.4(MET):c.524G>A (p.Cys175Tyr)
|
rs1584877055
|
|
NM_000245.4(MET):c.528G>A (p.Val176=)
|
|
|
NM_000245.4(MET):c.52T>C (p.Leu18=)
|
|
|
NM_000245.4(MET):c.52T>G (p.Leu18Val)
|
|
|
NM_000245.4(MET):c.531G>T (p.Val177=)
|
rs755804127
|
|
NM_000245.4(MET):c.532A>G (p.Ser178Gly)
|
|
|
NM_000245.4(MET):c.535G>T (p.Ala179Ser)
|
rs753697730
|
|
NM_000245.4(MET):c.537C>G (p.Ala179=)
|
|
|
NM_000245.4(MET):c.538C>G (p.Leu180Val)
|
rs1584877113
|
|
NM_000245.4(MET):c.538C>T (p.Leu180=)
|
|
|
NM_000245.4(MET):c.540G>A (p.Leu180=)
|
rs1791488808
|
|
NM_000245.4(MET):c.550_579dup (p.Ile193_Asn194insValLeuSerSerValLysAspArgPheIle)
|
|
|
NM_000245.4(MET):c.553C>G (p.Leu185Val)
|
rs376097698
|
|
NM_000245.4(MET):c.554T>A (p.Leu185His)
|
rs1791489495
|
|
NM_000245.4(MET):c.554T>C (p.Leu185Pro)
|
rs1791489495
|
|
NM_000245.4(MET):c.558A>G (p.Ser186=)
|
|
|
NM_000245.4(MET):c.559T>A (p.Ser187Thr)
|
rs1791489630
|
|
NM_000245.4(MET):c.562G>A (p.Val188Ile)
|
rs2116591991
|
|
NM_000245.4(MET):c.564A>T (p.Val188=)
|
rs1791489742
|
|
NM_000245.4(MET):c.567G>A (p.Lys189=)
|
rs879254341
|
|
NM_000245.4(MET):c.568G>A (p.Asp190Asn)
|
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
|
|
|
NM_000245.4(MET):c.570C>G (p.Asp190Glu)
|
rs1791490183
|
|
NM_000245.4(MET):c.571C>A (p.Arg191=)
|
rs530932258
|
|
NM_000245.4(MET):c.571C>G (p.Arg191Gly)
|
rs530932258
|
|
NM_000245.4(MET):c.571C>T (p.Arg191Trp)
|
rs530932258
|
|
NM_000245.4(MET):c.572G>T (p.Arg191Leu)
|
|
|
NM_000245.4(MET):c.576C>T (p.Phe192=)
|
rs2116592376
|
|
NM_000245.4(MET):c.577A>C (p.Ile193Leu)
|
rs747138607
|
|
NM_000245.4(MET):c.57G>A (p.Val19=)
|
rs1584875673
|
|
NM_000245.4(MET):c.581A>C (p.Asn194Thr)
|
rs370170168
|
|
NM_000245.4(MET):c.581A>G (p.Asn194Ser)
|
rs370170168
|
|
NM_000245.4(MET):c.583T>C (p.Phe195Leu)
|
|
|
NM_000245.4(MET):c.584T>A (p.Phe195Tyr)
|
|
|
NM_000245.4(MET):c.586T>C (p.Phe196Leu)
|
|
|
NM_000245.4(MET):c.589G>A (p.Val197Ile)
|
rs2116592694
|
|
NM_000245.4(MET):c.594C>T (p.Gly198=)
|
rs549459978
|
|
NM_000245.4(MET):c.596A>G (p.Asn199Ser)
|
rs1342574948
|
|
NM_000245.4(MET):c.597T>C (p.Asn199=)
|
rs2116592884
|
|
NM_000245.4(MET):c.601A>G (p.Ile201Val)
|
rs2116592997
|
|
NM_000245.4(MET):c.602T>C (p.Ile201Thr)
|
rs2116593025
|
|
NM_000245.4(MET):c.605A>C (p.Asn202Thr)
|
|
|
NM_000245.4(MET):c.608C>A (p.Ser203Tyr)
|
|
|
NM_000245.4(MET):c.608C>T (p.Ser203Phe)
|
|
|
NM_000245.4(MET):c.608CTT[1] (p.Ser204del)
|
rs764811491
|
|
NM_000245.4(MET):c.609T>A (p.Ser203=)
|
rs1269191859
|
|
NM_000245.4(MET):c.610T>C (p.Ser204Pro)
|
rs1791492133
|
|
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
|
|
|
NM_000245.4(MET):c.612T>C (p.Ser204=)
|
|
|
NM_000245.4(MET):c.613T>G (p.Tyr205Asp)
|
|
|
NM_000245.4(MET):c.615T>C (p.Tyr205=)
|
rs2116593354
|
|
NM_000245.4(MET):c.618C>T (p.Phe206=)
|
rs2116593426
|
|
NM_000245.4(MET):c.61A>G (p.Arg21Gly)
|
|
|
NM_000245.4(MET):c.621A>G (p.Pro207=)
|
rs2116593527
|
|
NM_000245.4(MET):c.622G>T (p.Asp208Tyr)
|
rs2116593557
|
|
NM_000245.4(MET):c.628C>A (p.Pro210Thr)
|
rs983457211
|
|
NM_000245.4(MET):c.628C>T (p.Pro210Ser)
|
rs983457211
|
|
NM_000245.4(MET):c.629del (p.Pro210fs)
|
rs1554378645
|
|
NM_000245.4(MET):c.632T>C (p.Leu211Ser)
|
|
|
NM_000245.4(MET):c.633G>A (p.Leu211=)
|
rs552870344
|
|
NM_000245.4(MET):c.635A>T (p.His212Leu)
|
|
|
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
|
|
|
NM_000245.4(MET):c.639G>C (p.Ser213=)
|
|
|
NM_000245.4(MET):c.640A>G (p.Ile214Val)
|
rs786203065
|
|
NM_000245.4(MET):c.646G>A (p.Val216Met)
|
|
|
NM_000245.4(MET):c.647T>C (p.Val216Ala)
|
rs1396083482
|
|
NM_000245.4(MET):c.653G>T (p.Arg218Met)
|
rs1441045077
|
|
NM_000245.4(MET):c.654G>C (p.Arg218Ser)
|
rs35284565
|
|
NM_000245.4(MET):c.654G>T (p.Arg218Ser)
|
rs35284565
|
|
NM_000245.4(MET):c.665C>G (p.Thr222Arg)
|
|
|
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
|
|
|
NM_000245.4(MET):c.66C>A (p.Ser22Arg)
|
rs773018125
|
|
NM_000245.4(MET):c.66C>G (p.Ser22Arg)
|
|
|
NM_000245.4(MET):c.672T>C (p.Asp224=)
|
rs2116594941
|
|
NM_000245.4(MET):c.674G>A (p.Gly225Asp)
|
rs1791495307
|
|
NM_000245.4(MET):c.674G>T (p.Gly225Val)
|
rs1791495307
|
|
NM_000245.4(MET):c.679A>G (p.Met227Val)
|
|
|
NM_000245.4(MET):c.680T>C (p.Met227Thr)
|
rs1226545782
|
|
NM_000245.4(MET):c.689C>A (p.Thr230Lys)
|
|
|
NM_000245.4(MET):c.690G>T (p.Thr230=)
|
rs200138253
|
|
NM_000245.4(MET):c.693C>A (p.Asp231Glu)
|
|
|
NM_000245.4(MET):c.694C>G (p.Gln232Glu)
|
|
|
NM_000245.4(MET):c.69T>C (p.Asn23=)
|
|
|
NM_000245.4(MET):c.700T>C (p.Tyr234His)
|
|
|
NM_000245.4(MET):c.702C>T (p.Tyr234=)
|
rs2116595737
|
|
NM_000245.4(MET):c.703A>C (p.Ile235Leu)
|
rs1266863567
|
|
NM_000245.4(MET):c.703A>G (p.Ile235Val)
|
rs1266863567
|
|
NM_000245.4(MET):c.709G>A (p.Val237Ile)
|
rs757402499
|
|
NM_000245.4(MET):c.711T>C (p.Val237=)
|
rs932492107
|
|
NM_000245.4(MET):c.713T>C (p.Leu238Ser)
|
rs34349517
|
|
NM_000245.4(MET):c.717T>C (p.Pro239=)
|
|
|
NM_000245.4(MET):c.717T>G (p.Pro239=)
|
|
|
NM_000245.4(MET):c.720G>A (p.Glu240=)
|
|
|
NM_000245.4(MET):c.723C>T (p.Phe241=)
|
|
|
NM_000245.4(MET):c.724A>G (p.Arg242Gly)
|
rs904275312
|
|
NM_000245.4(MET):c.728A>G (p.Asp243Gly)
|
rs1562883992
|
|
NM_000245.4(MET):c.72G>A (p.Gly24=)
|
rs770829669
|
|
NM_000245.4(MET):c.732T>G (p.Ser244=)
|
rs770202229
|
|
NM_000245.4(MET):c.733T>C (p.Tyr245His)
|
|
|
NM_000245.4(MET):c.738C>A (p.Pro246=)
|
rs1461455526
|
|
NM_000245.4(MET):c.738dup (p.Ile247fs)
|
rs1584877533
|
|
NM_000245.4(MET):c.73G>T (p.Glu25Ter)
|
rs2116579525
|
|
NM_000245.4(MET):c.744G>T (p.Lys248Asn)
|
rs1562884016
|
|
NM_000245.4(MET):c.748G>A (p.Val250Ile)
|
rs2116596826
|
|
NM_000245.4(MET):c.749T>C (p.Val250Ala)
|
rs2116596855
|
|
NM_000245.4(MET):c.750C>T (p.Val250=)
|
rs2116596869
|
|
NM_000245.4(MET):c.754G>A (p.Ala252Thr)
|
|
|
NM_000245.4(MET):c.755C>T (p.Ala252Val)
|
rs1791500546
|
|
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
|
|
|
NM_000245.4(MET):c.759T>G (p.Phe253Leu)
|
rs2116597103
|
|
NM_000245.4(MET):c.75G>A (p.Glu25=)
|
rs925600985
|
|
NM_000245.4(MET):c.762A>G (p.Glu254=)
|
rs760278126
|
|
NM_000245.4(MET):c.764G>T (p.Ser255Ile)
|
rs1294994065
|
|
NM_000245.4(MET):c.765C>T (p.Ser255=)
|
rs2116597275
|
|
NM_000245.4(MET):c.767A>G (p.Asn256Ser)
|
|
|
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
|
|
|
NM_000245.4(MET):c.76T>C (p.Cys26Arg)
|
rs2116579595
|
|
NM_000245.4(MET):c.770A>G (p.Asn257Ser)
|
rs759388741
|
|
NM_000245.4(MET):c.771T>G (p.Asn257Lys)
|
rs2116597435
|
|
NM_000245.4(MET):c.774T>C (p.Phe258=)
|
rs2116597528
|
|
NM_000245.4(MET):c.774del (p.Phe258fs)
|
rs1281772042
|
|
NM_000245.4(MET):c.775_777del (p.Ile259del)
|
rs1791501640
|
|
NM_000245.4(MET):c.780C>T (p.Tyr260=)
|
rs2116597678
|
|
NM_000245.4(MET):c.786G>C (p.Leu262Phe)
|
rs1791501952
|
|
NM_000245.4(MET):c.789G>T (p.Thr263=)
|
rs554190225
|
|
NM_000245.4(MET):c.790G>T (p.Val264Phe)
|
rs2116597936
|
|
NM_000245.4(MET):c.797G>A (p.Arg266Lys)
|
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000245.4(MET):c.79A>T (p.Lys27Ter)
|
rs2116579656
|
|
NM_000245.4(MET):c.7G>A (p.Ala3Thr)
|
rs1416393044
|
|
NM_000245.4(MET):c.805C>G (p.Leu269Val)
|
rs781257386
|
|
NM_000245.4(MET):c.807A>G (p.Leu269=)
|
|
|
NM_000245.4(MET):c.809A>G (p.Asp270Gly)
|
rs1791503359
|
|
NM_000245.4(MET):c.80A>G (p.Lys27Arg)
|
rs555920594
|
|
NM_000245.4(MET):c.80_81delinsGG (p.Lys27Arg)
|
|
|
NM_000245.4(MET):c.811G>A (p.Ala271Thr)
|
rs1162540199
|
|
NM_000245.4(MET):c.813T>C (p.Ala271=)
|
rs750586651
|
|
NM_000245.4(MET):c.816G>C (p.Gln272His)
|
rs1168091854
|
|
NM_000245.4(MET):c.818C>G (p.Thr273Ser)
|
rs368144654
|
|
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
|
|
|
NM_000245.4(MET):c.826A>C (p.Thr276Pro)
|
rs769128478
|
|
NM_000245.4(MET):c.826A>G (p.Thr276Ala)
|
rs769128478
|
|
NM_000245.4(MET):c.826A>T (p.Thr276Ser)
|
rs769128478
|
|
NM_000245.4(MET):c.82G>A (p.Glu28Lys)
|
rs1562882876
|
|
NM_000245.4(MET):c.82G>C (p.Glu28Gln)
|
|
|
NM_000245.4(MET):c.835A>G (p.Ile279Val)
|
|
|
NM_000245.4(MET):c.836T>C (p.Ile279Thr)
|
rs2116599173
|
|
NM_000245.4(MET):c.837C>G (p.Ile279Met)
|
|
|
NM_000245.4(MET):c.838A>G (p.Arg280Gly)
|
|
|
NM_000245.4(MET):c.839G>A (p.Arg280Lys)
|
rs770528254
|
|
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
|
|
|
NM_000245.4(MET):c.83A>T (p.Glu28Val)
|
|
|
NM_000245.4(MET):c.840G>A (p.Arg280=)
|
rs1207381066
|
|
NM_000245.4(MET):c.841T>C (p.Phe281Leu)
|
|
|
NM_000245.4(MET):c.841T>G (p.Phe281Val)
|
rs1791504987
|
|
NM_000245.4(MET):c.844T>G (p.Cys282Gly)
|
|
|
NM_000245.4(MET):c.845G>C (p.Cys282Ser)
|
rs879254343
|
|
NM_000245.4(MET):c.847T>C (p.Ser283Pro)
|
rs1791505194
|
|
NM_000245.4(MET):c.84G>C (p.Glu28Asp)
|
rs759602956
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
NM_000245.4(MET):c.851T>C (p.Ile284Thr)
|
rs2116599526
|
|
NM_000245.4(MET):c.855C>T (p.Asn285=)
|
rs1791505633
|
|
NM_000245.4(MET):c.856T>G (p.Ser286Ala)
|
|
|
NM_000245.4(MET):c.858T>C (p.Ser286=)
|
rs1791505734
|
|
NM_000245.4(MET):c.85G>C (p.Ala29Pro)
|
rs765246117
|
|
NM_000245.4(MET):c.85G>T (p.Ala29Ser)
|
rs765246117
|
|
NM_000245.4(MET):c.860G>A (p.Gly287Glu)
|
|
|
NM_000245.4(MET):c.860G>C (p.Gly287Ala)
|
rs2116599722
|
|
NM_000245.4(MET):c.861A>G (p.Gly287=)
|
|
|
NM_000245.4(MET):c.862T>C (p.Leu288=)
|
rs1584877825
|
|
NM_000245.4(MET):c.868T>C (p.Ser290Pro)
|
rs2116599896
|
|
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
|
|
|
NM_000245.4(MET):c.874A>G (p.Met292Val)
|
rs1395827839
|
|
NM_000245.4(MET):c.875T>G (p.Met292Arg)
|
|
|
NM_000245.4(MET):c.87A>G (p.Ala29=)
|
rs1584875753
|
|
NM_000245.4(MET):c.880A>C (p.Met294Leu)
|
|
|
NM_000245.4(MET):c.883C>T (p.Pro295Ser)
|
|
|
NM_000245.4(MET):c.885T>G (p.Pro295=)
|
|
|
NM_000245.4(MET):c.888G>A (p.Leu296=)
|
rs1341728679
|
|
NM_000245.4(MET):c.889G>C (p.Glu297Gln)
|
|
|
NM_000245.4(MET):c.891G>C (p.Glu297Asp)
|
rs1791506647
|
|
NM_000245.4(MET):c.894T>C (p.Cys298=)
|
|
|
NM_000245.4(MET):c.89T>C (p.Leu30Pro)
|
|
|
NM_000245.4(MET):c.8C>T (p.Ala3Val)
|
|
|
NM_000245.4(MET):c.910A>G (p.Arg304Gly)
|
|
|
NM_000245.4(MET):c.911G>A (p.Arg304Lys)
|
|
|
NM_000245.4(MET):c.914A>G (p.Lys305Arg)
|
rs763935791
|
|
NM_000245.4(MET):c.915A>G (p.Lys305=)
|
|
|
NM_000245.4(MET):c.916A>C (p.Lys306Gln)
|
rs1032682239
|
|
NM_000245.4(MET):c.917_919del (p.Lys306del)
|
rs1584877929
|
|
NM_000245.4(MET):c.920G>A (p.Arg307Lys)
|
rs2116600992
|
|
NM_000245.4(MET):c.921A>G (p.Arg307=)
|
rs2116601014
|
|
NM_000245.4(MET):c.924C>G (p.Ser308=)
|
rs1791507929
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
NM_000245.4(MET):c.926C>T (p.Thr309Ile)
|
|
|
NM_000245.4(MET):c.927A>G (p.Thr309=)
|
|
|
NM_000245.4(MET):c.92C>T (p.Ala31Val)
|
|
|
NM_000245.4(MET):c.930G>T (p.Lys310Asn)
|
|
|
NM_000245.4(MET):c.938T>C (p.Val313Ala)
|
rs1562884246
|
|
NM_000245.4(MET):c.93A>G (p.Ala31=)
|
rs763196530
|
|
NM_000245.4(MET):c.940T>G (p.Phe314Val)
|
rs2116601372
|
|
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
|
|
|
NM_000245.4(MET):c.945T>C (p.Asn315=)
|
rs1060504941
|
|
NM_000245.4(MET):c.947T>C (p.Ile316Thr)
|
rs1584877972
|
|
NM_000245.4(MET):c.949C>A (p.Leu317Ile)
|
rs750531377
|
|
NM_000245.4(MET):c.949C>T (p.Leu317Phe)
|
rs750531377
|
|
NM_000245.4(MET):c.950T>C (p.Leu317Pro)
|
|
|
NM_000245.4(MET):c.952C>T (p.Gln318Ter)
|
rs1791509642
|
|
NM_000245.4(MET):c.954G>A (p.Gln318=)
|
|
|
NM_000245.4(MET):c.955G>T (p.Ala319Ser)
|
rs545332056
|
|
NM_000245.4(MET):c.956C>T (p.Ala319Val)
|
rs1791510135
|
|
NM_000245.4(MET):c.960G>C (p.Ala320=)
|
|
|
NM_000245.4(MET):c.961T>C (p.Tyr321His)
|
rs2116601933
|
|
NM_000245.4(MET):c.962A>G (p.Tyr321Cys)
|
|
|
NM_000245.4(MET):c.965T>A (p.Val322Asp)
|
|
|
NM_000245.4(MET):c.968G>A (p.Ser323Asn)
|
rs2116602095
|
|
NM_000245.4(MET):c.96G>A (p.Lys32=)
|
rs2116580040
|
|
NM_000245.4(MET):c.970A>C (p.Lys324Gln)
|
|
|
NM_000245.4(MET):c.970A>G (p.Lys324Glu)
|
rs1791511003
|
|
NM_000245.4(MET):c.972G>C (p.Lys324Asn)
|
|
|
NM_000245.4(MET):c.973C>A (p.Pro325Thr)
|
|
|
NM_000245.4(MET):c.977G>C (p.Gly326Ala)
|
rs1791511601
|
|
NM_000245.4(MET):c.978G>A (p.Gly326=)
|
rs769507421
|
|
NM_000245.4(MET):c.978G>C (p.Gly326=)
|
rs769507421
|
|
NM_000245.4(MET):c.979G>T (p.Ala327Ser)
|
rs2116602432
|
|
NM_000245.4(MET):c.984G>A (p.Gln328=)
|
rs2116602563
|
|
NM_000245.4(MET):c.985C>G (p.Leu329Val)
|
|
|
NM_000245.4(MET):c.987T>G (p.Leu329=)
|
rs921189227
|
|
NM_000245.4(MET):c.990T>C (p.Ala330=)
|
rs2116602743
|
|
NM_000245.4(MET):c.991A>G (p.Arg331Gly)
|
rs1791512225
|
|
NM_000245.4(MET):c.992G>T (p.Arg331Ile)
|
|
|
NM_000245.4(MET):c.994C>A (p.Gln332Lys)
|
|
|
NM_000245.4(MET):c.995A>G (p.Gln332Arg)
|
rs1060503529
|
|
NM_000245.4(MET):c.998T>C (p.Ile333Thr)
|
rs1584878120
|
|
NM_000245.4(MET):c.9C>T (p.Ala3=)
|
rs1797064273
|
|
NM_000249.4(MLH1):c.1039-2_1409+150del
|
rs2125879653
|
|
NM_000249.4(MLH1):c.1039-2_1409+1del
|
rs2125879720
|
|
NM_000249.4(MLH1):c.1039-6dup
|
rs1553650466
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.116+3A>G
|
rs1553637475
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
|
rs1575538276
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp)
|
rs2125902825
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2_1667+1del
|
rs2125943381
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1573T>C (p.Leu525=)
|
rs63750137
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)
|
rs2125984594
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg)
|
rs2125985111
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1896+179G>C
|
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.207+346G>C
|
|
|
NM_000249.4(MLH1):c.208-3C>T
|
rs267607720
|
|
NM_000249.4(MLH1):c.2131dup (p.Ser711fs)
|
rs2148522538
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
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.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.322_335del (p.Ser108fs)
|
rs1553641269
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.365del (p.Gly122fs)
|
rs2125757477
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.604del (p.Ala202fs)
|
rs1553644155
|
|
NM_000249.4(MLH1):c.631_632del (p.Ser211fs)
|
rs2125808812
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.678-234_678-233insAGTG
|
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000249.4(MLH1):c.908T>G (p.Val303Gly)
|
rs267607813
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000251.3(MSH2):c.-1_211+1177del
|
|
|
NM_000251.3(MSH2):c.-2_211+156del
|
rs2103865247
|
|
NM_000251.3(MSH2):c.-2_211+1del
|
rs2103865151
|
|
NM_000251.3(MSH2):c.-4_211+864del
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1077-2_1276+1del
|
rs2104435254
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1497A>G (p.Ala499=)
|
rs1357985821
|
|
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs)
|
rs1553366522
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs)
|
rs1553366561
|
|
NM_000251.3(MSH2):c.1662-1_1759+1048del
|
|
|
NM_000251.3(MSH2):c.1760-3_2005+453del
|
rs2104334736
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
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.1825G>C (p.Ala609Pro)
|
rs150980616
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly)
|
rs41295290
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2006-12T>G
|
rs2104367663
|
|
NM_000251.3(MSH2):c.2006-2_2210+1del
|
rs2104368001
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.212-1_366+1dup
|
rs2103975062
|
|
NM_000251.3(MSH2):c.212-1_366+712del
|
rs2103974925
|
|
NM_000251.3(MSH2):c.212-2_366+1del
|
rs2103974901
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)
|
rs1553369686
|
|
NM_000251.3(MSH2):c.2444del (p.Tyr815fs)
|
rs2104409719
|
|
NM_000251.3(MSH2):c.2498T>A (p.Leu833His)
|
rs1573578539
|
|
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys)
|
rs1573579234
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.367-28A>G
|
rs748645813
|
|
NM_000251.3(MSH2):c.367-2_645+1del
|
rs2104016560
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)
|
rs1553350946
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.646-1_648del
|
rs1553351549
|
|
NM_000251.3(MSH2):c.646-1_792+486del
|
rs2104097954
|
|
NM_000251.3(MSH2):c.648_650del (p.Ile217del)
|
rs1553351554
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2_1076+1del
|
rs2104242036
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000264.5(PTCH1):c.3168+139G>C
|
|
|
NM_000264.5(PTCH1):c.3449+255G>T
|
|
|
NM_000264.5(PTCH1):c.584+1366G>A
|
|
|
NM_000280.4:c.1267A>T
|
|
|
NM_000314.8(PTEN):c.*667A>T
|
rs886047409
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.450G>A (p.Glu150=)
|
rs757777398
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
NM_000321.3(RB1):c.1389+34G>A
|
|
|
NM_000321.3(RB1):c.1696-7964C>T
|
|
|
NM_000321.3(RB1):c.380+2T>C
|
|
|
NM_000325.6(PITX2):c.412-283C>A
|
|
|
NM_000376.3(VDR):c.1024+283G>A
|
rs1544410
|
|
NM_000435.3(NOTCH3):c.5161T>A (p.Trp1721Arg)
|
rs869025230
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.464+322C>T
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.647C>T (p.Ser216Phe)
|
rs1057520017
|
|
NM_000455.5(STK11):c.734+14C>A
|
rs763346212
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile)
|
rs1553612535
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000535.7(PMS2):c.1144+250_2175-1948del
|
|
|
NM_000535.7(PMS2):c.1145-1_2006+2del
|
rs2128719778
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
|
rs1583299036
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.933C>G (p.His311Gln)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000535.7(PMS2):c.94G>T (p.Val32Leu)
|
rs977251189
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
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>A (p.Pro291Gln)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)
|
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1101-313G>A
|
|
|
NM_000546.6(TP53):c.1118del (p.Lys373fs)
|
rs2150988776
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.314G>T (p.Gly105Val)
|
rs587781504
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>G (p.Leu111Arg)
|
rs1057519997
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)
|
rs786203071
|
|
NM_000546.6(TP53):c.431A>T (p.Gln144Leu)
|
rs786203071
|
|
NM_000546.6(TP53):c.432G>T (p.Gln144His)
|
rs786201419
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>C (p.Leu194Pro)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)
|
rs1057520007
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)
|
rs1597368376
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
NM_000546.6(TP53):c.641A>T (p.His214Leu)
|
rs1057519992
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)
|
rs587782177
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
NM_000546.6(TP53):c.647T>A (p.Val216Glu)
|
rs1057520004
|
|
NM_000546.6(TP53):c.647T>G (p.Val216Gly)
|
rs1057520004
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.721T>C (p.Ser241Pro)
|
rs1057520002
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.724T>G (p.Cys242Gly)
|
rs1057519982
|
|
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)
|
rs121912655
|
|
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
|
rs375874539
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
rs985033810
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>C (p.Ile255Thr)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>G (p.Ile255Ser)
|
rs876659675
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.796G>T (p.Gly266Ter)
|
rs1057519990
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.7G>C (p.Glu3Gln)
|
rs2073524362
|
|
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808T>G (p.Phe270Val)
|
rs1057519988
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.810T>G (p.Phe270Leu)
|
rs1057519987
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.820G>C (p.Val274Leu)
|
rs1057520005
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>T (p.Glu286Val)
|
rs1057519985
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_000551.4(VHL):c.-10C>T
|
rs1192379474
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.266T>A (p.Leu89His)
|
rs5030807
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
rs869025650
|
|
NM_000551.4(VHL):c.463+9G>A
|
rs1057522720
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.473T>A (p.Leu158Gln)
|
rs121913346
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.508G>A (p.Val170Ile)
|
rs1553620326
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_000634.3(CXCR1):c.827G>C (p.Ser276Thr)
|
|
|
NM_000698.5(ALOX5):c.490T>G (p.Leu164Val)
|
rs869025237
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
NM_000743.5(CHRNA3):c.378-230_378-229inv
|
|
|
NM_000745.4(CHRNA5):c.*552T>C
|
|
|
NM_000745.4(CHRNA5):c.304-96C>A
|
|
|
NM_000750.5(CHRNB4):c.*319_*320delinsAT
|
|
|
NM_000870.7(HTR4):c.1076+211C>A
|
|
|
NM_000870.7(HTR4):c.26+7221G>A
|
|
|
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)
|
rs2115160662
|
|
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
|
rs1783569729
|
|
NM_000963.4(PTGS2):c.*427T>C
|
|
|
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
NM_001005738.2(FPR2):c.-15+1402C>T
|
|
|
NM_001007228.2(SPOP):c.259T>A (p.Tyr87Asn)
|
rs1057519972
|
|
NM_001007228.2(SPOP):c.260A>C (p.Tyr87Ser)
|
rs1057519971
|
|
NM_001007228.2(SPOP):c.260A>G (p.Tyr87Cys)
|
rs1057519971
|
|
NM_001007228.2(SPOP):c.304T>G (p.Phe102Val)
|
rs1057519964
|
|
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)
|
rs193920894
|
|
NM_001007228.2(SPOP):c.306C>G (p.Phe102Leu)
|
rs1057519965
|
|
NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)
|
rs1057519968
|
|
NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)
|
rs1057519968
|
|
NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)
|
rs1057519969
|
|
NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)
|
rs1057519970
|
|
NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)
|
rs1057519966
|
|
NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)
|
rs1057519966
|
|
NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)
|
rs1057519967
|
|
NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)
|
rs1057519967
|
|
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)
|
rs193921065
|
|
NM_001012426.2(FOXP4):c.-16-161C>A
|
|
|
NM_001012426.2(FOXP4):c.-17+129G>C
|
|
|
NM_001012426.2(FOXP4):c.-17+229T>C
|
|
|
NM_001012426.2(FOXP4):c.511-141G>T
|
|
|
NM_001012426.2(FOXP4):c.511-214T>C
|
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe)
|
rs879254257
|
|
NM_001079668.3(NKX2-1):c.*303del
|
|
|
NM_001079668.3(NKX2-1):c.463+4A>G
|
rs1881201369
|
|
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val)
|
rs121917731
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)
|
rs863224846
|
|
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met)
|
rs1057519875
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001127500.2(MET):c.(?_-1)_1200+?dup
|
|
|
NM_001127500.2(MET):c.1528-?_*2262dup4962
|
|
|
NM_001127511.3(APC):c.-128G>C
|
rs543098847
|
|
NM_001127511.3(APC):c.-142G>A
|
rs951500465
|
|
NM_001127511.3(APC):c.166-28469_166-27547del
|
rs2149682237
|
|
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)
|
rs375349172
|
|
NM_001131034.4(RNF212):c.314T>C (p.Leu105Ser)
|
rs869025240
|
|
NM_001166108.2(PALLD):c.*112C>T
|
|
|
NM_001166108.2(PALLD):c.*136G>A
|
rs752296365
|
|
NM_001166108.2(PALLD):c.*136G>C
|
|
|
NM_001166108.2(PALLD):c.*136G>T
|
|
|
NM_001166108.2(PALLD):c.*155C>G
|
rs1560940853
|
|
NM_001166108.2(PALLD):c.*161C>T
|
rs1762577012
|
|
NM_001166108.2(PALLD):c.*172G>A
|
rs1762578631
|
|
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.*33-14C>G
|
rs2126616657
|
|
NM_001166108.2(PALLD):c.*33-8C>T
|
|
|
NM_001166108.2(PALLD):c.*33C>T
|
rs569054006
|
|
NM_001166108.2(PALLD):c.*37G>T
|
|
|
NM_001166108.2(PALLD):c.*40G>C
|
rs2126617157
|
|
NM_001166108.2(PALLD):c.*41C>T
|
rs2126617192
|
|
NM_001166108.2(PALLD):c.*43T>C
|
rs796831946
|
|
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.*93G>A
|
|
|
NM_001166108.2(PALLD):c.*96A>T
|
|
|
NM_001166108.2(PALLD):c.1964+44317_1964+44318inv
|
|
|
NM_001166108.2(PALLD):c.1965-12515C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12515C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12532C>A
|
rs979242789
|
|
NM_001166108.2(PALLD):c.1965-12536C>T
|
rs2151120978
|
|
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.1965-12554G>C
|
|
|
NM_001166108.2(PALLD):c.1965-12563C>T
|
rs2151120642
|
|
NM_001166108.2(PALLD):c.1965-12570C>T
|
rs587780761
|
|
NM_001166108.2(PALLD):c.1965-12572G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12573C>G
|
rs1220928329
|
|
NM_001166108.2(PALLD):c.1965-12575G>C
|
rs554297134
|
|
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.1965-12590G>A
|
|
|
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.1965-12599C>T
|
rs900642927
|
|
NM_001166108.2(PALLD):c.1965-12601A>G
|
|
|
NM_001166108.2(PALLD):c.1965-12602C>T
|
rs1002022068
|
|
NM_001166108.2(PALLD):c.1965-12605C>T
|
rs1553965526
|
|
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.1965-12641C>T
|
rs1553965480
|
|
NM_001166108.2(PALLD):c.1965-12648C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12656C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12658C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12663C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12665G>A
|
rs535155432
|
|
NM_001166108.2(PALLD):c.1965-12671G>C
|
|
|
NM_001166108.2(PALLD):c.1965-12677G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12678C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12679C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12683G>A
|
rs864622321
|
|
NM_001166108.2(PALLD):c.1965-12684C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12688C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12688CCG[3]
|
rs200020758
|
|
NM_001166108.2(PALLD):c.1965-12692A>C
|
rs864622591
|
|
NM_001166108.2(PALLD):c.1965-12693_1965-12682del
|
|
|
NM_001166108.2(PALLD):c.1965-12693_1965-12692insCCC
|
|
|
NM_001166108.2(PALLD):c.1965-12694CCA[3]
|
rs201979617
|
|
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[4]
|
rs748729107
|
|
NM_001166108.2(PALLD):c.1965-12701GCC[6]
|
rs748729107
|
|
NM_001166108.2(PALLD):c.1965-12704A>G
|
rs863224386
|
|
NM_001166108.2(PALLD):c.1965-12723C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12723C>T
|
rs748894104
|
|
NM_001166108.2(PALLD):c.1965-12725C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12730G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12735C>A
|
rs1434151476
|
|
NM_001166108.2(PALLD):c.1965-12736A>C
|
rs864622226
|
|
NM_001166108.2(PALLD):c.1965-12744T>C
|
|
|
NM_001166108.2(PALLD):c.1965-12749G>A
|
rs1209607829
|
|
NM_001166108.2(PALLD):c.1965-12755A>C
|
rs863224385
|
|
NM_001166108.2(PALLD):c.1965-12758G>C
|
rs777359545
|
|
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.1965-12761C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12761C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12761_1965-12756del
|
rs730882137
|
|
NM_001166108.2(PALLD):c.1965-12762C>G
|
|
|
NM_001166108.2(PALLD):c.1965-12764G>C
|
rs863224384
|
|
NM_001166108.2(PALLD):c.1965-12764G>T
|
|
|
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.1965-12771CGCCCC[3]
|
rs730882137
|
|
NM_001166108.2(PALLD):c.1965-12772T>C
|
rs1161219308
|
|
NM_001166108.2(PALLD):c.1965-12772delinsCCGCCCC
|
rs1553965326
|
|
NM_001166108.2(PALLD):c.1965-12773G>C
|
rs1240958245
|
|
NM_001166108.2(PALLD):c.1965-12782C>A
|
rs2151117841
|
|
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.1965-12809C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12811G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12812C>T
|
rs532961259
|
|
NM_001166108.2(PALLD):c.1965-12816C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12821G>A
|
|
|
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.1965-12830G>T
|
rs587780758
|
|
NM_001166108.2(PALLD):c.1965-12832C>A
|
rs1060502975
|
|
NM_001166108.2(PALLD):c.1965-12836C>G
|
rs1752038882
|
|
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.1965-12854G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12859C>T
|
rs1752033511
|
|
NM_001166108.2(PALLD):c.1965-12860G>A
|
|
|
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.1965-12911G>T
|
|
|
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.1965-12923G>A
|
rs2151116162
|
|
NM_001166108.2(PALLD):c.1965-12926G>C
|
|
|
NM_001166108.2(PALLD):c.1965-12928G>C
|
rs587780753
|
|
NM_001166108.2(PALLD):c.1965-12934G>A
|
|
|
NM_001166108.2(PALLD):c.1965-12935C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12938C>A
|
|
|
NM_001166108.2(PALLD):c.1965-12941G>A
|
rs864622590
|
|
NM_001166108.2(PALLD):c.1965-12944G>A
|
rs1231114395
|
|
NM_001166108.2(PALLD):c.1965-12947C>G
|
rs1279362848
|
|
NM_001166108.2(PALLD):c.1965-12947C>T
|
|
|
NM_001166108.2(PALLD):c.1965-12964C>T
|
rs1752004838
|
|
NM_001166108.2(PALLD):c.1965-12974C>T
|
rs1314232427
|
|
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.1965-12986C>T
|
rs1405467936
|
|
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.1965-13004C>T
|
|
|
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.1965-13019G>A
|
|
|
NM_001166108.2(PALLD):c.1965-13022G>A
|
rs1305250587
|
|
NM_001166108.2(PALLD):c.1965-13026G>A
|
rs1751989868
|
|
NM_001166108.2(PALLD):c.1965-13028_1965-13016dup
|
rs1751989521
|
|
NM_001166108.2(PALLD):c.1965-17G>C
|
|
|
NM_001166108.2(PALLD):c.1965-19T>C
|
|
|
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.1986T>C (p.Ser662=)
|
rs774706421
|
|
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.2085G>T (p.Leu695=)
|
rs2151193953
|
|
NM_001166108.2(PALLD):c.2100+5T>C
|
|
|
NM_001166108.2(PALLD):c.2100G>C (p.Pro700=)
|
rs1553968628
|
|
NM_001166108.2(PALLD):c.2101-11_2101-10del
|
rs2151217010
|
|
NM_001166108.2(PALLD):c.2101-11dup
|
|
|
NM_001166108.2(PALLD):c.2101-20T>G
|
|
|
NM_001166108.2(PALLD):c.2101-3T>C
|
rs1350140320
|
|
NM_001166108.2(PALLD):c.2101-6_2101-4del
|
rs867266337
|
|
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.2169T>A (p.Ile723=)
|
rs2151217538
|
|
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala)
|
|
|
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln)
|
rs1754736103
|
|
NM_001166108.2(PALLD):c.2199+16G>A
|
|
|
NM_001166108.2(PALLD):c.2199+18A>G
|
|
|
NM_001166108.2(PALLD):c.2199+5del
|
rs376654786
|
|
NM_001166108.2(PALLD):c.2251-12T>C
|
|
|
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.2274A>G (p.Glu758=)
|
|
|
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.2298G>A (p.Glu766=)
|
|
|
NM_001166108.2(PALLD):c.2319T>C (p.Pro773=)
|
rs961514057
|
|
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.2370T>C (p.Asn790=)
|
|
|
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.2442A>C (p.Thr814=)
|
|
|
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val)
|
|
|
NM_001166108.2(PALLD):c.2466G>A (p.Lys822=)
|
rs2151264658
|
|
NM_001166108.2(PALLD):c.2472+8G>A
|
|
|
NM_001166108.2(PALLD):c.2473-10C>G
|
|
|
NM_001166108.2(PALLD):c.2473-18C>T
|
|
|
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.2541C>G (p.Leu847=)
|
|
|
NM_001166108.2(PALLD):c.2541C>T (p.Leu847=)
|
rs863224382
|
|
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn)
|
rs1380474191
|
|
NM_001166108.2(PALLD):c.2550C>G (p.Thr850=)
|
rs772737020
|
|
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.2586T>C (p.Asp862=)
|
rs1431878477
|
|
NM_001166108.2(PALLD):c.2598T>C (p.Tyr866=)
|
rs997146277
|
|
NM_001166108.2(PALLD):c.2622+3A>G
|
|
|
NM_001166108.2(PALLD):c.2622+8A>G
|
rs2151306705
|
|
NM_001166108.2(PALLD):c.2623-8T>C
|
rs2151407394
|
|
NM_001166108.2(PALLD):c.2625C>T (p.Gly875=)
|
rs2151407453
|
|
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.2814T>A (p.Thr938=)
|
|
|
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.2850+8T>G
|
rs2151424618
|
|
NM_001166108.2(PALLD):c.2851-10T>C
|
rs1761518453
|
|
NM_001166108.2(PALLD):c.2851-6A>G
|
rs1347888847
|
|
NM_001166108.2(PALLD):c.2853C>T (p.Val951=)
|
|
|
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.2874T>C (p.Asp958=)
|
rs2126494210
|
|
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.2916T>C (p.Ser972=)
|
rs566543059
|
|
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu)
|
rs2126495446
|
|
NM_001166108.2(PALLD):c.2943C>T (p.Asn981=)
|
|
|
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg)
|
|
|
NM_001166108.2(PALLD):c.2949G>A (p.Val983=)
|
|
|
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.2988C>A (p.Ala996=)
|
|
|
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala)
|
|
|
NM_001166108.2(PALLD):c.3003T>C (p.Cys1001=)
|
|
|
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr)
|
rs1761543823
|
|
NM_001166108.2(PALLD):c.3016C>A (p.Arg1006=)
|
rs1304987799
|
|
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln)
|
|
|
NM_001166108.2(PALLD):c.3045G>A (p.Glu1015=)
|
|
|
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.3058+15G>A
|
|
|
NM_001166108.2(PALLD):c.3059-13C>T
|
|
|
NM_001166108.2(PALLD):c.3059-20T>C
|
|
|
NM_001166108.2(PALLD):c.3059-6T>C
|
|
|
NM_001166108.2(PALLD):c.3059-6del
|
rs755470870
|
|
NM_001166108.2(PALLD):c.3069A>G (p.Ala1023=)
|
rs2126572022
|
|
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.3150A>G (p.Val1050=)
|
rs781516286
|
|
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.3186A>G (p.Lys1062=)
|
|
|
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val)
|
rs200399043
|
|
NM_001166108.2(PALLD):c.3222G>C (p.Val1074=)
|
|
|
NM_001166108.2(PALLD):c.3224+18G>A
|
|
|
NM_001166108.2(PALLD):c.3225-16_3225-15del
|
|
|
NM_001166108.2(PALLD):c.3225-18C>G
|
|
|
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.3261C>T (p.Leu1087=)
|
|
|
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu)
|
rs1553984987
|
|
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His)
|
|
|
NM_001166108.2(PALLD):c.3288T>C (p.Ala1096=)
|
rs2126589237
|
|
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met)
|
rs368806050
|
|
NM_001166108.2(PALLD):c.3303G>A (p.Val1101=)
|
|
|
NM_001166108.2(PALLD):c.3333C>T (p.Ser1111=)
|
|
|
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.3358+17C>T
|
rs1337504036
|
|
NM_001166108.2(PALLD):c.671_672inv (p.Met224Thr)
|
rs373066707
|
|
NM_001166110.1(PALLD):c.640-?_960+?del
|
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)
|
rs770704003
|
|
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)
|
rs1407334063
|
|
NM_001243133.2(NLRP3):c.-121T>C
|
|
|
NM_001243133.2(NLRP3):c.-146T>C
|
|
|
NM_001243133.2(NLRP3):c.-748-307A>G
|
|
|
NM_001243133.2(NLRP3):c.1486G>A (p.Asp496Asn)
|
|
|
NM_001243133.2(NLRP3):c.2151-225C>A
|
|
|
NM_001243133.2(NLRP3):c.2338C>A (p.Leu780Ile)
|
|
|
NM_001243133.2(NLRP3):c.2353T>C (p.Cys785Arg)
|
|
|
NM_001243133.2(NLRP3):c.2835-14C>A
|
|
|
NM_001281766.3(EPHA5):c.1748G>A (p.Gly583Glu)
|
rs1057520012
|
|
NM_001282663.2(MICAL2):c.3131A>G (p.Asp1044Gly)
|
rs869025227
|
|
NM_001304359.2(MUC5AC):c.1386+63G>T
|
|
|
NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn)
|
|
|
NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly)
|
|
|
NM_001304359.2(MUC5AC):c.15862-71G>T
|
|
|
NM_001304359.2(MUC5AC):c.2093-112C>T
|
|
|
NM_001304359.2(MUC5AC):c.211+43T>C
|
|
|
NM_001304359.2(MUC5AC):c.3777-148T>A
|
|
|
NM_001304359.2(MUC5AC):c.7242A>T (p.Ser2414=)
|
|
|
NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser)
|
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly)
|
rs747241612
|
|
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu)
|
rs866987936
|
|
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)
|
rs1057519896
|
|
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)
|
rs1057519896
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*20_*21del (p.Ter437=)
|
rs759391101
|
|
NM_001368894.2(PAX6):c.*247T>A
|
rs1468270124
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-167G>T
|
rs1956928845
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
NM_001368894.2(PAX6):c.10+5G>C
|
rs587776572
|
|
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
|
rs397514640
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)
|
rs1953969921
|
|
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)
|
rs759557055
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)
|
rs371018133
|
|
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)
|
rs1953501315
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)
|
rs373715028
|
|
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)
|
rs1954524676
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)
|
rs1592415376
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr)
|
rs137853148
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
NM_001378902.1(ROS1):c.3167A>G (p.Asn1056Ser)
|
|
|
NM_001378902.1(ROS1):c.3388G>A (p.Gly1130Arg)
|
|
|
NM_001378902.1(ROS1):c.3430+42C>T
|
|
|
NM_001378902.1(ROS1):c.5062-46A>C
|
|
|
NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg)
|
rs1057519788
|
|
NM_001378902.1(ROS1):c.682C>G (p.Gln228Glu)
|
|
|
NM_001382430.1(AKT1):c.287+402_287+403delinsGG
|
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)
|
rs864321679
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
|
|
|
NM_001654.5(ARAF):c.640T>G (p.Ser214Ala)
|
rs1057519876
|
|
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)
|
rs1057519786
|
|
NM_001654.5(ARAF):c.641C>T (p.Ser214Phe)
|
rs1057519786
|
|
NM_001664.4(RHOA):c.118G>A (p.Glu40Lys)
|
rs1057519951
|
|
NM_001664.4(RHOA):c.118G>C (p.Glu40Gln)
|
rs1057519951
|
|
NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe)
|
rs1057519954
|
|
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)
|
rs1057519952
|
|
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln)
|
rs1057519953
|
|
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu)
|
rs1057519953
|
|
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)
|
rs762408881
|
|
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)
|
rs1555303073
|
|
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
|
|
|
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
|
|
|
NM_001903.5(CTNNA1):c.105+1G>C
|
rs374313094
|
|
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)
|
rs1426385729
|
|
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)
|
rs1754363697
|
|
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
|
|
|
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)
|
rs1758714268
|
|
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)
|
rs201498915
|
|
NM_001903.5(CTNNA1):c.1390-6_1392delinsA
|
|
|
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
|
|
|
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
|
|
|
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
|
|
|
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)
|
rs2149656252
|
|
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)
|
rs2150288001
|
|
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)
|
rs1763609978
|
|
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
|
|
|
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
|
|
|
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
|
|
|
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
|
|
|
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
|
|
|
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)
|
rs1764805365
|
|
NM_001903.5(CTNNA1):c.1997del (p.Gly666fs)
|
rs1181915653
|
|
NM_001903.5(CTNNA1):c.2008dup (p.Arg670fs)
|
|
|
NM_001903.5(CTNNA1):c.2017_2018dup (p.Met673fs)
|
|
|
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)
|
rs1580907792
|
|
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
|
|
|
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)
|
rs773235871
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
|
|
|
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
|
|
|
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)
|
rs1581105774
|
|
NM_001903.5(CTNNA1):c.468+1G>T
|
|
|
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
|
|
|
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
|
|
|
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
|
|
|
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)
|
rs2149651992
|
|
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
|
|
|
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)
|
rs745411817
|
|
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
|
|
|
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)
|
rs1760848495
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)
|
rs587776850
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp)
|
rs1553631848
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)
|
rs1575330336
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis)
|
rs1553630102
|
|
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_001982.4(ERBB3):c.310G>A (p.Val104Met)
|
rs1057519893
|
|
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu)
|
rs1057519893
|
|
NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn)
|
rs1057519891
|
|
NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr)
|
rs1057519891
|
|
NM_001982.4(ERBB3):c.890A>T (p.Asp297Val)
|
rs1057519892
|
|
NM_002019.4(FLT1):c.1106+219G>T
|
|
|
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs)
|
rs796052115
|
|
NM_002019.4(FLT1):c.2594-52G>A
|
|
|
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs)
|
rs555490448
|
|
NM_002019.4(FLT1):c.2708-190C>T
|
|
|
NM_002019.4(FLT1):c.2708-195G>T
|
|
|
NM_002019.4(FLT1):c.2708-29A>C
|
rs558381447
|
|
NM_002019.4(FLT1):c.2708-39G>C
|
rs537105078
|
|
NM_002019.4(FLT1):c.2871A>T (p.Leu957=)
|
rs148695719
|
|
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs)
|
rs573848371
|
|
NM_002019.4(FLT1):c.3174+225T>G
|
|
|
NM_002019.4(FLT1):c.3175-69A>T
|
rs576912997
|
|
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=)
|
rs2296189
|
|
NM_002019.4(FLT1):c.3287-16A>C
|
rs537403174
|
|
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser)
|
rs730882263
|
|
NM_002019.4(FLT1):c.3721-78C>A
|
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)
|
rs121913503
|
|
NM_002168.4(IDH2):c.515G>T (p.Arg172Met)
|
rs121913503
|
|
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_002354.3(EPCAM):c.556-3_657+288del
|
rs2103756948
|
|
NM_002354.3(EPCAM):c.859-2_903+43del
|
rs2103768437
|
|
NM_002430.3(MN1):c.912GCA[5] (p.Gln309del)
|
rs747503495
|
|
NM_002467.6(MYC):c.173C>T (p.Pro58Leu)
|
rs1057519918
|
|
NM_002467.6(MYC):c.217A>C (p.Thr73Pro)
|
rs750664148
|
|
NM_002467.6(MYC):c.218C>T (p.Thr73Ile)
|
rs756091827
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)
|
rs121913250
|
|
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)
|
rs121913237
|
|
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)
|
rs121913237
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002529.4(NTRK1):c.1120A>G (p.Ile374Val)
|
rs1347421266
|
|
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)
|
rs1035934237
|
|
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)
|
rs1647927494
|
|
NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser)
|
rs202161010
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
NM_002555.6(SLC22A18):c.865-1046C>T
|
|
|
NM_002691.4(POLD1):c.-1-12C>T
|
rs778338383
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002691.4(POLD1):c.3218+9_3218+10inv
|
|
|
NM_002691.4(POLD1):c.463+8_463+9delinsTT
|
rs796285537
|
|
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile)
|
rs1057519728
|
|
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val)
|
rs1057519728
|
|
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu)
|
rs1057519908
|
|
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr)
|
rs1057519909
|
|
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)
|
rs869025608
|
|
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)
|
rs869025608
|
|
NM_002755.4(MAP2K1):c.361T>A (p.Cys121Ser)
|
rs1057519856
|
|
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser)
|
rs1057519731
|
|
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)
|
rs397507546
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr)
|
rs1057519958
|
|
NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe)
|
rs1057519958
|
|
NM_003000.3(SDHB):c.661del (p.Asp221fs)
|
|
|
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
NM_003238.6(TGFB2):c.510+148T>G
|
|
|
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
NM_003376.6(VEGFA):c.*237C>T
|
|
|
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)
|
rs1057520009
|
|
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)
|
rs1057520010
|
|
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)
|
rs1057520010
|
|
NM_003488.4(AKAP1):c.946GGCTTGGATAGAAATGAGGAG[1] (p.316GLDRNEE[1])
|
rs746089021
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)
|
|
|
NM_003902.5(FUBP1):c.1611G>A (p.Trp537Ter)
|
rs869025239
|
|
NM_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
NM_004048.4(B2M):c.1A>G (p.Met1Val)
|
rs1023835002
|
|
NM_004048.4(B2M):c.1A>T (p.Met1Leu)
|
rs1023835002
|
|
NM_004048.4(B2M):c.2T>C (p.Met1Thr)
|
rs1057519879
|
|
NM_004048.4(B2M):c.2T>G (p.Met1Arg)
|
rs1057519879
|
|
NM_004048.4(B2M):c.3G>A (p.Met1Ile)
|
rs1057519877
|
|
NM_004132.5(HABP2):c.1590C>T (p.Gly530=)
|
rs2133792767
|
|
NM_004136.4(IREB2):c.1023+1037G>A
|
|
|
NM_004136.4(IREB2):c.1024-1244T>A
|
|
|
NM_004304.5(ALK):c.2205-116G>A
|
|
|
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)
|
rs1057519785
|
|
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)
|
rs1057519784
|
|
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)
|
rs1057519783
|
|
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr)
|
rs1057519782
|
|
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala)
|
rs1057519781
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile)
|
rs180177032
|
|
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser)
|
rs180177033
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)
|
rs121913365
|
|
NM_004336.5(BUB1):c.3069del (p.His1024fs)
|
rs587776642
|
|
NM_004360.3(CDH1):c.388-?_*2042+?del
|
|
|
NM_004360.3(CDH1):c.48+6_48+7delinsTT
|
rs786200947
|
|
NM_004360.4(CDH1):c.-124-?_*2042+?dup4815
|
|
|
NM_004360.4(CDH1):c.164-?_*(1_?)dup
|
|
|
NM_004360.4:c.(1008+1_1009-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1320+1_1321-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(2164+1_2165-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(1137+1_1138-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(387+1_388-1)del
|
|
|
NM_004360.4:c.(387+1_388-1)_(1711+1_1712-1)dup
|
|
|
NM_004360.5(CDH1):c.*1176T>G
|
rs9282654
|
|
NM_004360.5(CDH1):c.*1591T>C
|
rs886052246
|
|
NM_004360.5(CDH1):c.*179G>T
|
rs1596977076
|
|
NM_004360.5(CDH1):c.*1974_*1978del
|
rs557163298
|
|
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.-57C>T
|
rs981792194
|
|
NM_004360.5(CDH1):c.1001A>G (p.Asp334Gly)
|
|
|
NM_004360.5(CDH1):c.1002C>T (p.Asp334=)
|
rs761981219
|
|
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+11_1008+19del
|
rs1567506816
|
|
NM_004360.5(CDH1):c.1008+12G>A
|
rs756154578
|
|
NM_004360.5(CDH1):c.1008+13_1008+14delinsAT
|
|
|
NM_004360.5(CDH1):c.1008+15G>A
|
rs1057520564
|
|
NM_004360.5(CDH1):c.1008+16G>C
|
rs780181188
|
|
NM_004360.5(CDH1):c.1008+16G>T
|
|
|
NM_004360.5(CDH1):c.1008+19C>G
|
|
|
NM_004360.5(CDH1):c.1008+1G>T
|
rs1960844889
|
|
NM_004360.5(CDH1):c.1008+2T>C
|
rs1060501237
|
|
NM_004360.5(CDH1):c.1008+2T>G
|
|
|
NM_004360.5(CDH1):c.1008+2_1008+4del
|
|
|
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+5_1008+8dup
|
rs1555515665
|
|
NM_004360.5(CDH1):c.1008+6G>A
|
rs1960845278
|
|
NM_004360.5(CDH1):c.1008+7G>C
|
rs1960845329
|
|
NM_004360.5(CDH1):c.1008+7G>T
|
|
|
NM_004360.5(CDH1):c.1008+8G>C
|
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
NM_004360.5(CDH1):c.1008+8dup
|
rs1555515665
|
|
NM_004360.5(CDH1):c.1008G>A (p.Glu336=)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1009-10C>G
|
rs1060504171
|
|
NM_004360.5(CDH1):c.1009-10C>T
|
rs1060504171
|
|
NM_004360.5(CDH1):c.1009-12A>C
|
rs2152132463
|
|
NM_004360.5(CDH1):c.1009-13G>T
|
rs557444760
|
|
NM_004360.5(CDH1):c.1009-14C>G
|
rs368293695
|
|
NM_004360.5(CDH1):c.1009-14del
|
|
|
NM_004360.5(CDH1):c.1009-16_1009-15del
|
rs1567506961
|
|
NM_004360.5(CDH1):c.1009-17T>G
|
|
|
NM_004360.5(CDH1):c.1009-18G>T
|
|
|
NM_004360.5(CDH1):c.1009-19T>G
|
rs2152132447
|
|
NM_004360.5(CDH1):c.1009-1G>C
|
rs1597894632
|
|
NM_004360.5(CDH1):c.1009-20T>C
|
|
|
NM_004360.5(CDH1):c.1009-32G>A
|
|
|
NM_004360.5(CDH1):c.1009-3C>G
|
|
|
NM_004360.5(CDH1):c.1009-4G>A
|
rs2152132477
|
|
NM_004360.5(CDH1):c.1009-5T>C
|
rs1555515708
|
|
NM_004360.5(CDH1):c.1009-6C>A
|
rs771652165
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
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.1020G>T (p.Thr340=)
|
rs61747632
|
|
NM_004360.5(CDH1):c.1020_1051del (p.Tyr341fs)
|
|
|
NM_004360.5(CDH1):c.1022A>G (p.Tyr341Cys)
|
rs1960854403
|
|
NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)
|
rs587776398
|
|
NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)
|
|
|
NM_004360.5(CDH1):c.1025C>A (p.Thr342Asn)
|
rs2152132510
|
|
NM_004360.5(CDH1):c.1026C>T (p.Thr342=)
|
rs2152132512
|
|
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.1029G>C (p.Leu343=)
|
rs1597894681
|
|
NM_004360.5(CDH1):c.1029G>T (p.Leu343=)
|
rs1597894681
|
|
NM_004360.5(CDH1):c.102C>G (p.Ala34=)
|
rs864622213
|
|
NM_004360.5(CDH1):c.102C>T (p.Ala34=)
|
rs864622213
|
|
NM_004360.5(CDH1):c.1032G>A (p.Val344=)
|
rs2152132524
|
|
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.1036C>T (p.Gln346Ter)
|
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.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1040_1041dup (p.Ala348fs)
|
|
|
NM_004360.5(CDH1):c.1041T>C (p.Ala347=)
|
rs1960855371
|
|
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.1044T>C (p.Ala348=)
|
|
|
NM_004360.5(CDH1):c.1048C>A (p.Leu350Ile)
|
|
|
NM_004360.5(CDH1):c.1051C>G (p.Gln351Glu)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)
|
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>A (p.Gly352=)
|
rs876658922
|
|
NM_004360.5(CDH1):c.1056T>C (p.Gly352=)
|
|
|
NM_004360.5(CDH1):c.1056del (p.Glu353fs)
|
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
NM_004360.5(CDH1):c.1058A>T (p.Glu353Val)
|
rs1555515730
|
|
NM_004360.5(CDH1):c.1059G>A (p.Glu353=)
|
rs537703872
|
|
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.1062G>A (p.Gly354=)
|
rs1006997341
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004360.5(CDH1):c.1062dup (p.Leu355fs)
|
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.106A>T (p.Ser36Cys)
|
rs1555509773
|
|
NM_004360.5(CDH1):c.1070del (p.Thr357fs)
|
|
|
NM_004360.5(CDH1):c.1071A>G (p.Thr357=)
|
rs1555515736
|
|
NM_004360.5(CDH1):c.1072A>G (p.Thr358Ala)
|
|
|
NM_004360.5(CDH1):c.1074A>G (p.Thr358=)
|
rs2152132612
|
|
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.1078del (p.Thr360fs)
|
|
|
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.1080A>G (p.Thr360=)
|
rs2152132618
|
|
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.1085del (p.Val362fs)
|
rs1555515739
|
|
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.1091_1092del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1091del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1092A>C (p.Thr364=)
|
rs1960858246
|
|
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.1093_1094del (p.Val365fs)
|
|
|
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.1097_1112del (p.Thr366fs)
|
|
|
NM_004360.5(CDH1):c.1098_1099insAA (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1098_1101del (p.Asp367fs)
|
|
|
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.1104C>T (p.Thr368=)
|
rs1597894838
|
|
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.1107C>T (p.Asn369=)
|
rs786201189
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
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.1116T>G (p.Pro372=)
|
rs1555515761
|
|
NM_004360.5(CDH1):c.1122C>A (p.Ile374=)
|
|
|
NM_004360.5(CDH1):c.1123T>G (p.Phe375Val)
|
rs1597894887
|
|
NM_004360.5(CDH1):c.1123_1129del (p.Phe375fs)
|
|
|
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.1128T>C (p.Asn376=)
|
rs1960860496
|
|
NM_004360.5(CDH1):c.1128_1137+1delinsGGAGT
|
|
|
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)
|
rs786203442
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
NM_004360.5(CDH1):c.1135_1137+5delinsTTAGA
|
|
|
NM_004360.5(CDH1):c.1137+106A>G
|
|
|
NM_004360.5(CDH1):c.1137+10T>C
|
rs1555515772
|
|
NM_004360.5(CDH1):c.1137+114A>C
|
|
|
NM_004360.5(CDH1):c.1137+16C>T
|
rs2152132741
|
|
NM_004360.5(CDH1):c.1137+17T>A
|
|
|
NM_004360.5(CDH1):c.1137+18T>C
|
|
|
NM_004360.5(CDH1):c.1137+19A>G
|
|
|
NM_004360.5(CDH1):c.1137+20G>C
|
rs34210985
|
|
NM_004360.5(CDH1):c.1137+2T>A
|
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
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+6T>G
|
|
|
NM_004360.5(CDH1):c.1137+81C>T
|
|
|
NM_004360.5(CDH1):c.1137+8T>C
|
rs2152132731
|
|
NM_004360.5(CDH1):c.1137+9A>C
|
rs780705655
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
NM_004360.5(CDH1):c.1137+9A>T
|
rs780705655
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1137G>T (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1138-10T>G
|
rs758324153
|
|
NM_004360.5(CDH1):c.1138-16T>A
|
rs2152133274
|
|
NM_004360.5(CDH1):c.1138-17A>G
|
rs1300278605
|
|
NM_004360.5(CDH1):c.1138-19A>C
|
|
|
NM_004360.5(CDH1):c.1138-19A>G
|
|
|
NM_004360.5(CDH1):c.1138-22G>T
|
|
|
NM_004360.5(CDH1):c.1138-2A>G
|
rs2152133290
|
|
NM_004360.5(CDH1):c.1138-5T>G
|
rs763879027
|
|
NM_004360.5(CDH1):c.1138-6C>T
|
rs1960889054
|
|
NM_004360.5(CDH1):c.1138-7T>C
|
|
|
NM_004360.5(CDH1):c.1138-7_1138-3del
|
|
|
NM_004360.5(CDH1):c.1138-8C>T
|
rs2152133278
|
|
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.1140C>T (p.Tyr380=)
|
rs2152133295
|
|
NM_004360.5(CDH1):c.1141A>T (p.Lys381Ter)
|
|
|
NM_004360.5(CDH1):c.1142A>G (p.Lys381Arg)
|
rs780867132
|
|
NM_004360.5(CDH1):c.1143G>A (p.Lys381=)
|
rs143727462
|
|
NM_004360.5(CDH1):c.1143_1145delinsA (p.Gly382fs)
|
|
|
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.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1146T>A (p.Gly382=)
|
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
NM_004360.5(CDH1):c.114G>A (p.Thr38=)
|
rs786201492
|
|
NM_004360.5(CDH1):c.1150G>A (p.Val384Met)
|
|
|
NM_004360.5(CDH1):c.1152G>A (p.Val384=)
|
rs1960890121
|
|
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.1155dup (p.Glu386Ter)
|
|
|
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.1162G>T (p.Glu388Ter)
|
|
|
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.1170del (p.Asn390fs)
|
rs1567507724
|
|
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.1179C>A (p.Ile393=)
|
|
|
NM_004360.5(CDH1):c.1179C>T (p.Ile393=)
|
rs2152133374
|
|
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.1182C>T (p.Thr394=)
|
|
|
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.1185A>C (p.Thr395=)
|
rs1190964498
|
|
NM_004360.5(CDH1):c.1186C>A (p.Leu396Met)
|
rs1597895834
|
|
NM_004360.5(CDH1):c.1186C>T (p.Leu396=)
|
rs1597895834
|
|
NM_004360.5(CDH1):c.1189A>G (p.Lys397Glu)
|
|
|
NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter)
|
rs1960892947
|
|
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.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
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.1203T>C (p.Ala401=)
|
rs786201239
|
|
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.1209C>A (p.Ala403=)
|
rs982151802
|
|
NM_004360.5(CDH1):c.1209C>T (p.Ala403=)
|
|
|
NM_004360.5(CDH1):c.120G>A (p.Thr40=)
|
rs786201115
|
|
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.1211_1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212C>T (p.Pro404=)
|
rs2152133441
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
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.1215T>C (p.Asn405=)
|
rs1555515891
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
NM_004360.5(CDH1):c.1217C>A (p.Thr406Asn)
|
rs753770270
|
|
NM_004360.5(CDH1):c.1218C>T (p.Thr406=)
|
rs876659476
|
|
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.1220del (p.Pro407fs)
|
rs886037822
|
|
NM_004360.5(CDH1):c.1221A>C (p.Pro407=)
|
rs1555515894
|
|
NM_004360.5(CDH1):c.1222G>C (p.Ala408Pro)
|
rs1960894869
|
|
NM_004360.5(CDH1):c.1222G>T (p.Ala408Ser)
|
|
|
NM_004360.5(CDH1):c.1222dup (p.Ala408fs)
|
|
|
NM_004360.5(CDH1):c.1223C>A (p.Ala408Glu)
|
|
|
NM_004360.5(CDH1):c.1223C>G (p.Ala408Gly)
|
rs138135866
|
|
NM_004360.5(CDH1):c.1224G>T (p.Ala408=)
|
rs200161607
|
|
NM_004360.5(CDH1):c.1226G>A (p.Trp409Ter)
|
|
|
NM_004360.5(CDH1):c.1227G>A (p.Trp409Ter)
|
rs1960895237
|
|
NM_004360.5(CDH1):c.1228G>C (p.Glu410Gln)
|
rs187906987
|
|
NM_004360.5(CDH1):c.1228G>T (p.Glu410Ter)
|
|
|
NM_004360.5(CDH1):c.122T>G (p.Val41Gly)
|
|
|
NM_004360.5(CDH1):c.1230G>A (p.Glu410=)
|
rs876659952
|
|
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.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
NM_004360.5(CDH1):c.1235T>C (p.Val412Ala)
|
rs1960895805
|
|
NM_004360.5(CDH1):c.1236A>C (p.Val412=)
|
|
|
NM_004360.5(CDH1):c.1236A>G (p.Val412=)
|
|
|
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.1242C>T (p.Thr414=)
|
rs779601817
|
|
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.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
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.1254T>C (p.Asp418=)
|
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.1257T>C (p.Asp419=)
|
rs876658765
|
|
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.1260T>C (p.Gly420=)
|
rs1555515903
|
|
NM_004360.5(CDH1):c.1260dup (p.Gly421fs)
|
|
|
NM_004360.5(CDH1):c.1262G>A (p.Gly421Glu)
|
rs2152133559
|
|
NM_004360.5(CDH1):c.1263A>G (p.Gly421=)
|
|
|
NM_004360.5(CDH1):c.1264C>T (p.Gln422Ter)
|
|
|
NM_004360.5(CDH1):c.1265A>G (p.Gln422Arg)
|
rs2152133567
|
|
NM_004360.5(CDH1):c.1266del (p.Gln422fs)
|
|
|
NM_004360.5(CDH1):c.1267T>C (p.Phe423Leu)
|
rs786202027
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)
|
rs570930882
|
|
NM_004360.5(CDH1):c.1273del (p.Val425fs)
|
|
|
NM_004360.5(CDH1):c.1274T>C (p.Val425Ala)
|
|
|
NM_004360.5(CDH1):c.1275C>T (p.Val425=)
|
rs1555515907
|
|
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.1278C>T (p.Thr426=)
|
rs2152133592
|
|
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.1281A>G (p.Thr427=)
|
rs2152133600
|
|
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.1290G>A (p.Val430=)
|
rs2152133615
|
|
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.1295_1296delinsTTTT (p.Asn432fs)
|
|
|
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys)
|
rs187862045
|
|
NM_004360.5(CDH1):c.1298A>T (p.Asp433Val)
|
|
|
NM_004360.5(CDH1):c.1298_1320+12del
|
|
|
NM_004360.5(CDH1):c.129G>A (p.Arg43=)
|
rs2152114446
|
|
NM_004360.5(CDH1):c.129_163+9dup
|
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
NM_004360.5(CDH1):c.1300G>A (p.Gly434Ser)
|
|
|
NM_004360.5(CDH1):c.1301G>A (p.Gly434Asp)
|
rs1555515914
|
|
NM_004360.5(CDH1):c.1301del (p.Gly434fs)
|
|
|
NM_004360.5(CDH1):c.1302C>T (p.Gly434=)
|
rs754580159
|
|
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>A (p.Leu436=)
|
rs557551011
|
|
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.1312del (p.Thr438fs)
|
rs1555515920
|
|
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.1315_1316delinsCAA (p.Ala439fs)
|
|
|
NM_004360.5(CDH1):c.1316C>A (p.Ala439Glu)
|
rs1597896180
|
|
NM_004360.5(CDH1):c.1317A>G (p.Ala439=)
|
rs2152133668
|
|
NM_004360.5(CDH1):c.1319del (p.Lys440fs)
|
|
|
NM_004360.5(CDH1):c.131G>T (p.Arg44Leu)
|
rs1375178645
|
|
NM_004360.5(CDH1):c.1320+10G>A
|
|
|
NM_004360.5(CDH1):c.1320+11T>C
|
rs2152133704
|
|
NM_004360.5(CDH1):c.1320+12A>T
|
rs765062939
|
|
NM_004360.5(CDH1):c.1320+13C>G
|
|
|
NM_004360.5(CDH1):c.1320+15T>C
|
|
|
NM_004360.5(CDH1):c.1320+15T>G
|
|
|
NM_004360.5(CDH1):c.1320+17_1320+18insTAAGATG
|
|
|
NM_004360.5(CDH1):c.1320+18C>T
|
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
|
|
NM_004360.5(CDH1):c.1320+1G>C
|
rs886039685
|
|
NM_004360.5(CDH1):c.1320+35C>T
|
|
|
NM_004360.5(CDH1):c.1320+43C>G
|
|
|
NM_004360.5(CDH1):c.1320+5G>C
|
rs1567508007
|
|
NM_004360.5(CDH1):c.1320+9G>C
|
rs1276697924
|
|
NM_004360.5(CDH1):c.1320+9G>T
|
rs1276697924
|
|
NM_004360.5(CDH1):c.1321-10T>C
|
rs1597897718
|
|
NM_004360.5(CDH1):c.1321-11del
|
rs761117936
|
|
NM_004360.5(CDH1):c.1321-140T>C
|
|
|
NM_004360.5(CDH1):c.1321-14T>C
|
rs1960956644
|
|
NM_004360.5(CDH1):c.1321-17T>C
|
|
|
NM_004360.5(CDH1):c.1321-18A>G
|
rs1567508765
|
|
NM_004360.5(CDH1):c.1321-19C>T
|
rs202163839
|
|
NM_004360.5(CDH1):c.1321-19_1321-16del
|
rs1555516065
|
|
NM_004360.5(CDH1):c.1321-1G>A
|
|
|
NM_004360.5(CDH1):c.1321-1G>C
|
rs2152134665
|
|
NM_004360.5(CDH1):c.1321-1G>T
|
|
|
NM_004360.5(CDH1):c.1321-25_1321-12del
|
|
|
NM_004360.5(CDH1):c.1321-36C>T
|
|
|
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.1321-4C>G
|
rs1322242543
|
|
NM_004360.5(CDH1):c.1321-5T>C
|
rs1057522088
|
|
NM_004360.5(CDH1):c.1321-65A>T
|
|
|
NM_004360.5(CDH1):c.1321-6_1324del
|
|
|
NM_004360.5(CDH1):c.1321-8C>T
|
rs2152134657
|
|
NM_004360.5(CDH1):c.1321-9G>A
|
rs2152134654
|
|
NM_004360.5(CDH1):c.1321-9_1331dup
|
|
|
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.1324T>C (p.Leu442=)
|
rs1555516075
|
|
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.1335G>A (p.Glu445=)
|
|
|
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.1338_1345del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1340_1346del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1341G>A (p.Lys447=)
|
rs767885546
|
|
NM_004360.5(CDH1):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004360.5(CDH1):c.1342dup (p.Gln448fs)
|
rs1960958360
|
|
NM_004360.5(CDH1):c.1343dup (p.Gln449fs)
|
|
|
NM_004360.5(CDH1):c.1344G>A (p.Gln448=)
|
|
|
NM_004360.5(CDH1):c.1347G>A (p.Gln449=)
|
rs2152134716
|
|
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.1350C>G (p.Tyr450Ter)
|
|
|
NM_004360.5(CDH1):c.1350C>T (p.Tyr450=)
|
|
|
NM_004360.5(CDH1):c.1350_1362del (p.Gln449_Tyr450insTer)
|
rs2152134718
|
|
NM_004360.5(CDH1):c.1351A>T (p.Ile451Phe)
|
rs377416092
|
|
NM_004360.5(CDH1):c.1354C>T (p.Leu452=)
|
rs1597897808
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
NM_004360.5(CDH1):c.1356A>G (p.Leu452=)
|
rs61747633
|
|
NM_004360.5(CDH1):c.1356A>T (p.Leu452=)
|
rs61747633
|
|
NM_004360.5(CDH1):c.1356_1362del (p.His453fs)
|
rs2152134736
|
|
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.1362A>T (p.Val454=)
|
rs2152134754
|
|
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.1365A>C (p.Ala455=)
|
rs1597897842
|
|
NM_004360.5(CDH1):c.1365A>T (p.Ala455=)
|
rs1597897842
|
|
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.1368G>A (p.Val456=)
|
rs1555516103
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
NM_004360.5(CDH1):c.136C>G (p.Leu46Val)
|
rs1410833063
|
|
NM_004360.5(CDH1):c.136del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1371G>T (p.Thr457=)
|
|
|
NM_004360.5(CDH1):c.1373del (p.Asn458fs)
|
rs1960960044
|
|
NM_004360.5(CDH1):c.1374T>C (p.Asn458=)
|
rs786202640
|
|
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.137del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1380A>G (p.Val460=)
|
rs1597897867
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
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.1382_1389del (p.Pro461fs)
|
|
|
NM_004360.5(CDH1):c.1385T>C (p.Phe462Ser)
|
rs587782622
|
|
NM_004360.5(CDH1):c.1386del (p.Phe462fs)
|
|
|
NM_004360.5(CDH1):c.1387G>A (p.Glu463Lys)
|
rs1960961009
|
|
NM_004360.5(CDH1):c.138G>A (p.Leu46=)
|
rs1567471510
|
|
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.1392C>G (p.Val464=)
|
rs373811706
|
|
NM_004360.5(CDH1):c.1397T>C (p.Leu466Pro)
|
rs2152134822
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)
|
rs1597897917
|
|
NM_004360.5(CDH1):c.1398C>T (p.Leu466=)
|
rs2152134824
|
|
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.139_163+18del
|
|
|
NM_004360.5(CDH1):c.13A>G (p.Ser5Gly)
|
rs1555509637
|
|
NM_004360.5(CDH1):c.1401C>T (p.Thr467=)
|
|
|
NM_004360.5(CDH1):c.1401del (p.Thr468fs)
|
|
|
NM_004360.5(CDH1):c.1403C>T (p.Thr468Ile)
|
rs876659141
|
|
NM_004360.5(CDH1):c.1404C>G (p.Thr468=)
|
rs1555516122
|
|
NM_004360.5(CDH1):c.1404C>T (p.Thr468=)
|
rs1555516122
|
|
NM_004360.5(CDH1):c.1404del (p.Ser469fs)
|
|
|
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.1416C>G (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.1416dup (p.Val473fs)
|
|
|
NM_004360.5(CDH1):c.1418del (p.Val473fs)
|
rs1960962662
|
|
NM_004360.5(CDH1):c.1419C>T (p.Val473=)
|
rs1597897961
|
|
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.1425G>A (p.Val475=)
|
rs750900851
|
|
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.1431G>A (p.Val477=)
|
|
|
NM_004360.5(CDH1):c.1433T>C (p.Leu478Pro)
|
rs35520415
|
|
NM_004360.5(CDH1):c.1434G>A (p.Leu478=)
|
rs1960963649
|
|
NM_004360.5(CDH1):c.1434G>C (p.Leu478=)
|
|
|
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.1438_1453del (p.Val480fs)
|
|
|
NM_004360.5(CDH1):c.143G>C (p.Arg48Thr)
|
|
|
NM_004360.5(CDH1):c.1440G>C (p.Val480=)
|
rs756517599
|
|
NM_004360.5(CDH1):c.1443T>C (p.Asn481=)
|
rs876658750
|
|
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.1449C>A (p.Ala483=)
|
rs1960964572
|
|
NM_004360.5(CDH1):c.1449C>T (p.Ala483=)
|
rs1960964572
|
|
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
|
|
|
NM_004360.5(CDH1):c.1450_1463del (p.Pro484fs)
|
|
|
NM_004360.5(CDH1):c.1451C>T (p.Pro484Leu)
|
rs1960964657
|
|
NM_004360.5(CDH1):c.1452C>G (p.Pro484=)
|
rs1597898030
|
|
NM_004360.5(CDH1):c.1452C>T (p.Pro484=)
|
rs1597898030
|
|
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.1455C>T (p.Ile485=)
|
rs786201613
|
|
NM_004360.5(CDH1):c.1456T>A (p.Phe486Ile)
|
rs1331977824
|
|
NM_004360.5(CDH1):c.1458T>C (p.Phe486=)
|
rs2152134949
|
|
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.1460_1461del (p.Val487fs)
|
rs1567508939
|
|
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.1464T>A (p.Pro488=)
|
rs876658378
|
|
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.1466dup (p.Pro489_Glu490insTer)
|
|
|
NM_004360.5(CDH1):c.1467T>C (p.Pro489=)
|
rs1301576524
|
|
NM_004360.5(CDH1):c.1467del (p.Glu490fs)
|
|
|
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.1470A>G (p.Glu490=)
|
rs1037089262
|
|
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.1476A>G (p.Arg492=)
|
rs1597898097
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1479G>A (p.Val493=)
|
rs755157715
|
|
NM_004360.5(CDH1):c.1479G>C (p.Val493=)
|
rs755157715
|
|
NM_004360.5(CDH1):c.147_163+1del
|
rs1555509779
|
|
NM_004360.5(CDH1):c.1480G>A (p.Glu494Lys)
|
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
NM_004360.5(CDH1):c.1481A>G (p.Glu494Gly)
|
rs1555516153
|
|
NM_004360.5(CDH1):c.1482A>G (p.Glu494=)
|
rs1060504175
|
|
NM_004360.5(CDH1):c.1483G>T (p.Val495Leu)
|
rs931521632
|
|
NM_004360.5(CDH1):c.1484T>G (p.Val495Gly)
|
|
|
NM_004360.5(CDH1):c.1484del (p.Val495fs)
|
|
|
NM_004360.5(CDH1):c.1486T>C (p.Ser496Pro)
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)
|
rs1567508990
|
|
NM_004360.5(CDH1):c.1489G>T (p.Glu497Ter)
|
|
|
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.1491G>A (p.Glu497=)
|
rs2152135018
|
|
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)
|
rs2152135021
|
|
NM_004360.5(CDH1):c.1492del (p.Asp498fs)
|
|
|
NM_004360.5(CDH1):c.1494C>T (p.Asp498=)
|
rs56836234
|
|
NM_004360.5(CDH1):c.1496T>C (p.Phe499Ser)
|
rs1555516163
|
|
NM_004360.5(CDH1):c.1497T>C (p.Phe499=)
|
rs878854678
|
|
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.1506C>G (p.Gly502=)
|
rs2152135052
|
|
NM_004360.5(CDH1):c.1509G>A (p.Gln503=)
|
|
|
NM_004360.5(CDH1):c.1509G>C (p.Gln503His)
|
rs876659548
|
|
NM_004360.5(CDH1):c.150C>G (p.Arg50=)
|
rs786201262
|
|
NM_004360.5(CDH1):c.150C>T (p.Arg50=)
|
rs786201262
|
|
NM_004360.5(CDH1):c.150_151dup (p.Val51fs)
|
rs2152114474
|
|
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.1518A>T (p.Thr506=)
|
rs1597898197
|
|
NM_004360.5(CDH1):c.1519T>A (p.Ser507Thr)
|
|
|
NM_004360.5(CDH1):c.1520C>T (p.Ser507Phe)
|
rs2152135087
|
|
NM_004360.5(CDH1):c.1521C>T (p.Ser507=)
|
rs149687235
|
|
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.1524C>T (p.Tyr508=)
|
rs786201302
|
|
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.1527T>A (p.Thr509=)
|
rs1438802668
|
|
NM_004360.5(CDH1):c.1527T>C (p.Thr509=)
|
rs1438802668
|
|
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.152_163+11del
|
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
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>A (p.Glu512=)
|
rs1597898279
|
|
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.153C>A (p.Val51=)
|
rs786201265
|
|
NM_004360.5(CDH1):c.153C>T (p.Val51=)
|
rs786201265
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
NM_004360.5(CDH1):c.1542C>T (p.Asp514=)
|
rs1555516187
|
|
NM_004360.5(CDH1):c.1543A>T (p.Thr515Ser)
|
rs1219371636
|
|
NM_004360.5(CDH1):c.1543dup (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1544C>T (p.Thr515Ile)
|
rs1555516188
|
|
NM_004360.5(CDH1):c.1544_1545del (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1545A>G (p.Thr515=)
|
rs2152135137
|
|
NM_004360.5(CDH1):c.1549A>G (p.Met517Val)
|
rs876658146
|
|
NM_004360.5(CDH1):c.154C>T (p.Leu52=)
|
rs374569322
|
|
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.1551_1554del (p.Met517fs)
|
|
|
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.1554A>G (p.Glu518=)
|
|
|
NM_004360.5(CDH1):c.1555C>T (p.Gln519Ter)
|
|
|
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+10A>C
|
|
|
NM_004360.5(CDH1):c.1565+12G>A
|
rs2152135179
|
|
NM_004360.5(CDH1):c.1565+12G>T
|
|
|
NM_004360.5(CDH1):c.1565+13A>G
|
rs1057522979
|
|
NM_004360.5(CDH1):c.1565+14T>G
|
|
|
NM_004360.5(CDH1):c.1565+18T>C
|
|
|
NM_004360.5(CDH1):c.1565+19C>G
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+20A>G
|
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
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.1565+7G>A
|
|
|
NM_004360.5(CDH1):c.1565+7G>T
|
rs1555516206
|
|
NM_004360.5(CDH1):c.1565+9G>A
|
|
|
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.1566-10C>A
|
|
|
NM_004360.5(CDH1):c.1566-10C>G
|
rs778678297
|
|
NM_004360.5(CDH1):c.1566-17A>C
|
|
|
NM_004360.5(CDH1):c.1566-17A>G
|
rs1555516507
|
|
NM_004360.5(CDH1):c.1566-2A>G
|
rs1555516520
|
|
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.1566-6G>C
|
rs771635021
|
|
NM_004360.5(CDH1):c.1566-7C>G
|
rs747783435
|
|
NM_004360.5(CDH1):c.1566-7del
|
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
NM_004360.5(CDH1):c.1566-8C>T
|
|
|
NM_004360.5(CDH1):c.1566-9C>G
|
rs1555516509
|
|
NM_004360.5(CDH1):c.1566-9C>T
|
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.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1569T>G (p.Tyr523Ter)
|
rs876659716
|
|
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>A (p.Arg524=)
|
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
|
NM_004360.5(CDH1):c.1572G>T (p.Arg524=)
|
rs771419468
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1578G>C (p.Trp526Cys)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1581A>G (p.Arg527=)
|
rs2152136765
|
|
NM_004360.5(CDH1):c.1582_1583del (p.Asp528fs)
|
|
|
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.1587dup (p.Ala530fs)
|
rs1555516532
|
|
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.1590C>T (p.Ala530=)
|
rs786201805
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
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.1593C>T (p.Asn531=)
|
rs1596960362
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
NM_004360.5(CDH1):c.1597C>T (p.Leu533=)
|
|
|
NM_004360.5(CDH1):c.1598T>C (p.Leu533Pro)
|
rs1961074036
|
|
NM_004360.5(CDH1):c.159C>G (p.Gly53=)
|
rs2152114488
|
|
NM_004360.5(CDH1):c.1600dup (p.Glu534fs)
|
|
|
NM_004360.5(CDH1):c.1602G>A (p.Glu534=)
|
rs753031606
|
|
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.1605T>A (p.Ile535=)
|
rs1555516544
|
|
NM_004360.5(CDH1):c.1605T>C (p.Ile535=)
|
rs1555516544
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.1608T>C (p.Asn536=)
|
|
|
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.1612del (p.Asp538fs)
|
rs1555516545
|
|
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val)
|
rs863224726
|
|
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.1616del (p.Thr539fs)
|
rs2152136838
|
|
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.1623C>G (p.Ala541=)
|
rs376662384
|
|
NM_004360.5(CDH1):c.1624A>G (p.Ile542Val)
|
|
|
NM_004360.5(CDH1):c.1626T>A (p.Ile542=)
|
|
|
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met)
|
rs1961075798
|
|
NM_004360.5(CDH1):c.1629C>T (p.Ser543=)
|
rs1596960459
|
|
NM_004360.5(CDH1):c.1629del (p.Thr544fs)
|
|
|
NM_004360.5(CDH1):c.163+10C>A
|
|
|
NM_004360.5(CDH1):c.163+10C>T
|
rs1597838801
|
|
NM_004360.5(CDH1):c.163+10_163+17dup
|
rs878854679
|
|
NM_004360.5(CDH1):c.163+115A>T
|
|
|
NM_004360.5(CDH1):c.163+11G>A
|
|
|
NM_004360.5(CDH1):c.163+11_163+15dup
|
|
|
NM_004360.5(CDH1):c.163+12C>T
|
rs2152114503
|
|
NM_004360.5(CDH1):c.163+14G>A
|
|
|
NM_004360.5(CDH1):c.163+14G>T
|
rs1057521411
|
|
NM_004360.5(CDH1):c.163+16C>T
|
rs1395024294
|
|
NM_004360.5(CDH1):c.163+18G>A
|
rs1555509793
|
|
NM_004360.5(CDH1):c.163+18G>C
|
|
|
NM_004360.5(CDH1):c.163+18G>T
|
|
|
NM_004360.5(CDH1):c.163+1G>A
|
rs1962463097
|
|
NM_004360.5(CDH1):c.163+29142_164-30404del
|
|
|
NM_004360.5(CDH1):c.163+2T>C
|
|
|
NM_004360.5(CDH1):c.163+4_163+6dup
|
rs1205684749
|
|
NM_004360.5(CDH1):c.163+75A>T
|
|
|
NM_004360.5(CDH1):c.163+7G>T
|
rs2152114498
|
|
NM_004360.5(CDH1):c.163+7_163+9del
|
|
|
NM_004360.5(CDH1):c.163+81G>A
|
|
|
NM_004360.5(CDH1):c.163+8C>A
|
rs863224396
|
|
NM_004360.5(CDH1):c.163+8_163+9delinsAC
|
rs1555509789
|
|
NM_004360.5(CDH1):c.163+90T>G
|
|
|
NM_004360.5(CDH1):c.163+9G>T
|
rs1247318124
|
|
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.164-10T>C
|
rs1555514398
|
|
NM_004360.5(CDH1):c.164-12T>C
|
rs2152126575
|
|
NM_004360.5(CDH1):c.164-14627G>A
|
rs9929218
|
|
NM_004360.5(CDH1):c.164-14627G>C
|
|
|
NM_004360.5(CDH1):c.164-15A>T
|
rs1960502893
|
|
NM_004360.5(CDH1):c.164-17_164-16del
|
|
|
NM_004360.5(CDH1):c.164-1G>A
|
rs1597884512
|
|
NM_004360.5(CDH1):c.164-20C>G
|
|
|
NM_004360.5(CDH1):c.164-21_288del
|
|
|
NM_004360.5(CDH1):c.164-2A>G
|
rs2152126585
|
|
NM_004360.5(CDH1):c.164-3C>T
|
rs2152126584
|
|
NM_004360.5(CDH1):c.164-4G>A
|
rs780375749
|
|
NM_004360.5(CDH1):c.164-5T>C
|
rs2152126582
|
|
NM_004360.5(CDH1):c.164-6579_164-1957del
|
|
|
NM_004360.5(CDH1):c.164-6C>T
|
rs557313031
|
|
NM_004360.5(CDH1):c.164-7C>T
|
|
|
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.1641G>A (p.Glu547=)
|
rs778565234
|
|
NM_004360.5(CDH1):c.1641del (p.Glu547fs)
|
rs2152136881
|
|
NM_004360.5(CDH1):c.1642C>G (p.Leu548Val)
|
rs1181682630
|
|
NM_004360.5(CDH1):c.1642C>T (p.Leu548=)
|
rs1181682630
|
|
NM_004360.5(CDH1):c.1643T>G (p.Leu548Arg)
|
rs747801796
|
|
NM_004360.5(CDH1):c.1647C>T (p.Asp549=)
|
|
|
NM_004360.5(CDH1):c.1648A>C (p.Arg550=)
|
|
|
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.1651G>T (p.Glu551Ter)
|
|
|
NM_004360.5(CDH1):c.1653G>A (p.Glu551=)
|
|
|
NM_004360.5(CDH1):c.1658T>G (p.Phe553Cys)
|
rs1961077541
|
|
NM_004360.5(CDH1):c.1659T>C (p.Phe553=)
|
rs1180742144
|
|
NM_004360.5(CDH1):c.1660G>T (p.Glu554Ter)
|
|
|
NM_004360.5(CDH1):c.1662G>A (p.Glu554=)
|
rs2152136943
|
|
NM_004360.5(CDH1):c.1663C>G (p.His555Asp)
|
rs587782768
|
|
NM_004360.5(CDH1):c.1665C>T (p.His555=)
|
rs559270110
|
|
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.1671G>A (p.Lys557=)
|
rs2152136951
|
|
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.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
NM_004360.5(CDH1):c.1680G>T (p.Thr560=)
|
rs35741240
|
|
NM_004360.5(CDH1):c.1682A>G (p.Tyr561Cys)
|
rs918685758
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
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.1686A>G (p.Thr562=)
|
rs2152136980
|
|
NM_004360.5(CDH1):c.1686_1687insCG (p.Ala563fs)
|
rs1961079421
|
|
NM_004360.5(CDH1):c.1688C>G (p.Ala563Gly)
|
rs1596960694
|
|
NM_004360.5(CDH1):c.1689C>A (p.Ala563=)
|
rs587780786
|
|
NM_004360.5(CDH1):c.1689C>G (p.Ala563=)
|
rs587780786
|
|
NM_004360.5(CDH1):c.1689_1694delinsACGTA (p.Leu564fs)
|
|
|
NM_004360.5(CDH1):c.1690C>G (p.Leu564Val)
|
rs786201342
|
|
NM_004360.5(CDH1):c.1690C>T (p.Leu564=)
|
rs786201342
|
|
NM_004360.5(CDH1):c.1692A>C (p.Leu564=)
|
rs1060504168
|
|
NM_004360.5(CDH1):c.1692A>T (p.Leu564=)
|
rs1060504168
|
|
NM_004360.5(CDH1):c.1693A>G (p.Ile565Val)
|
rs1961080115
|
|
NM_004360.5(CDH1):c.1695_1696insTT (p.Ile566fs)
|
rs2152137001
|
|
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.1701T>C (p.Ala567=)
|
rs1555516589
|
|
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.1705_1708del (p.Asp569fs)
|
|
|
NM_004360.5(CDH1):c.1707C>A (p.Asp569Glu)
|
rs876660905
|
|
NM_004360.5(CDH1):c.1707C>T (p.Asp569=)
|
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.1710del (p.Asn570fs)
|
rs1961081411
|
|
NM_004360.5(CDH1):c.1711+10C>A
|
rs1264027031
|
|
NM_004360.5(CDH1):c.1711+10C>T
|
|
|
NM_004360.5(CDH1):c.1711+11dup
|
rs1961082342
|
|
NM_004360.5(CDH1):c.1711+12T>C
|
rs2152137038
|
|
NM_004360.5(CDH1):c.1711+13C>T
|
rs1961082476
|
|
NM_004360.5(CDH1):c.1711+16C>G
|
rs2152137043
|
|
NM_004360.5(CDH1):c.1711+18G>A
|
|
|
NM_004360.5(CDH1):c.1711+1G>A
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1G>T
|
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1711+20G>A
|
rs754802438
|
|
NM_004360.5(CDH1):c.1711+2_1711+7del
|
rs786203089
|
|
NM_004360.5(CDH1):c.1711+5G>A
|
rs1131690818
|
|
NM_004360.5(CDH1):c.1711+6G>A
|
rs1555516597
|
|
NM_004360.5(CDH1):c.1711+7G>A
|
rs762005138
|
|
NM_004360.5(CDH1):c.1711+7G>C
|
rs762005138
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
NM_004360.5(CDH1):c.1711+9del
|
rs762825233
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
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.1712-14G>A
|
rs2152138120
|
|
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.1712-16G>A
|
rs1480219208
|
|
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.1712-3T>C
|
rs1269786119
|
|
NM_004360.5(CDH1):c.1712-54dup
|
|
|
NM_004360.5(CDH1):c.1712-5C>A
|
|
|
NM_004360.5(CDH1):c.1712-5C>G
|
rs1596963305
|
|
NM_004360.5(CDH1):c.1712-5_1712-4del
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
NM_004360.5(CDH1):c.1713T>G (p.Gly571=)
|
|
|
NM_004360.5(CDH1):c.1714dup (p.Ser572fs)
|
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
NM_004360.5(CDH1):c.1716T>G (p.Ser572=)
|
rs876660176
|
|
NM_004360.5(CDH1):c.1718C>T (p.Pro573Leu)
|
rs1555516819
|
|
NM_004360.5(CDH1):c.1719A>G (p.Pro573=)
|
rs1596963337
|
|
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.1722T>C (p.Val574=)
|
rs1961156325
|
|
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.1728T>C (p.Thr576=)
|
rs786203525
|
|
NM_004360.5(CDH1):c.1728T>G (p.Thr576=)
|
|
|
NM_004360.5(CDH1):c.1729G>A (p.Gly577Arg)
|
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
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.1733del (p.Thr578fs)
|
|
|
NM_004360.5(CDH1):c.1736G>A (p.Gly579Glu)
|
rs1596963374
|
|
NM_004360.5(CDH1):c.1737G>C (p.Gly579=)
|
rs2152138178
|
|
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.1746dup (p.Leu583fs)
|
rs1131690817
|
|
NM_004360.5(CDH1):c.1747C>T (p.Leu583=)
|
rs898744939
|
|
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.1753C>T (p.Leu585=)
|
rs2152138217
|
|
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.1763_1764del (p.Val588fs)
|
rs1961158988
|
|
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.1776C>T (p.Ala592=)
|
rs876660329
|
|
NM_004360.5(CDH1):c.1778C>G (p.Pro593Arg)
|
rs1567512288
|
|
NM_004360.5(CDH1):c.1779C>T (p.Pro593=)
|
rs1596963500
|
|
NM_004360.5(CDH1):c.1779del (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
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.1786G>T (p.Glu596Ter)
|
|
|
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.1792C>T (p.Arg598Ter)
|
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.1795del (p.Thr599fs)
|
|
|
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.1805_1806delinsAG (p.Phe602Ter)
|
|
|
NM_004360.5(CDH1):c.1806_1807del (p.Phe602fs)
|
|
|
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.180C>T (p.Cys60=)
|
rs1555514402
|
|
NM_004360.5(CDH1):c.1812G>A (p.Glu604=)
|
rs2152138351
|
|
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.1821A>T (p.Pro607=)
|
rs1961162578
|
|
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.1828C>T (p.Gln610Ter)
|
|
|
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.182delinsGT (p.Thr61fs)
|
|
|
NM_004360.5(CDH1):c.1830G>A (p.Gln610=)
|
rs1596963602
|
|
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.183C>G (p.Thr61=)
|
|
|
NM_004360.5(CDH1):c.183C>T (p.Thr61=)
|
rs575896144
|
|
NM_004360.5(CDH1):c.1840A>G (p.Ile614Val)
|
rs587782838
|
|
NM_004360.5(CDH1):c.1840A>T (p.Ile614Phe)
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
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.1845T>C (p.Ile615=)
|
rs2152138425
|
|
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.1849_1856del (p.Ala617fs)
|
rs2152138436
|
|
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.1851A>C (p.Ala617=)
|
rs995805388
|
|
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.1860T>G (p.Pro620=)
|
rs786201329
|
|
NM_004360.5(CDH1):c.1861C>G (p.Pro621Ala)
|
|
|
NM_004360.5(CDH1):c.1861C>T (p.Pro621Ser)
|
rs1961165024
|
|
NM_004360.5(CDH1):c.1863C>G (p.Pro621=)
|
rs2152138477
|
|
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>C (p.Asn622=)
|
rs786201678
|
|
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.1869A>G (p.Thr623=)
|
rs786201138
|
|
NM_004360.5(CDH1):c.186T>A (p.Gly62=)
|
rs2152126630
|
|
NM_004360.5(CDH1):c.1871C>T (p.Ser624Phe)
|
rs1961166045
|
|
NM_004360.5(CDH1):c.1872T>A (p.Ser624=)
|
rs876659970
|
|
NM_004360.5(CDH1):c.1874C>T (p.Pro625Leu)
|
rs1961166603
|
|
NM_004360.5(CDH1):c.1875C>A (p.Pro625=)
|
|
|
NM_004360.5(CDH1):c.1876T>G (p.Phe626Val)
|
rs876660603
|
|
NM_004360.5(CDH1):c.1878_1885del (p.Phe626fs)
|
rs2152138505
|
|
NM_004360.5(CDH1):c.187C>A (p.Arg63=)
|
|
|
NM_004360.5(CDH1):c.187C>G (p.Arg63Gly)
|
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
NM_004360.5(CDH1):c.1881A>C (p.Thr627=)
|
|
|
NM_004360.5(CDH1):c.1881A>G (p.Thr627=)
|
rs1060504176
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
NM_004360.5(CDH1):c.1889_1892del (p.Leu630fs)
|
rs2152138523
|
|
NM_004360.5(CDH1):c.1889del (p.Leu630fs)
|
|
|
NM_004360.5(CDH1):c.188G>C (p.Arg63Pro)
|
|
|
NM_004360.5(CDH1):c.1893A>T (p.Thr631=)
|
rs786201452
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
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.1895_1896del (p.His632fs)
|
rs1060501224
|
|
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.1899G>C (p.Gly633=)
|
rs1961169875
|
|
NM_004360.5(CDH1):c.189A>G (p.Arg63=)
|
rs2152126635
|
|
NM_004360.5(CDH1):c.18C>T (p.Arg6=)
|
rs786201300
|
|
NM_004360.5(CDH1):c.1900G>T (p.Ala634Ser)
|
rs1060501240
|
|
NM_004360.5(CDH1):c.1901C>A (p.Ala634Glu)
|
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1906_1907insA (p.Ala636fs)
|
|
|
NM_004360.5(CDH1):c.1907C>T (p.Ala636Val)
|
rs1555516894
|
|
NM_004360.5(CDH1):c.1910A>G (p.Asn637Ser)
|
|
|
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)
|
rs1567512585
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
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.1917_1918del (p.Ile640fs)
|
rs1555516896
|
|
NM_004360.5(CDH1):c.1918A>G (p.Ile640Val)
|
|
|
NM_004360.5(CDH1):c.1920dup (p.Gln641fs)
|
rs2152138595
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
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.1926C>G (p.Tyr642Ter)
|
|
|
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.1928del (p.Asn643fs)
|
|
|
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.1935_1936+9del
|
|
|
NM_004360.5(CDH1):c.1936+10T>A
|
rs762902051
|
|
NM_004360.5(CDH1):c.1936+12A>G
|
rs1555516903
|
|
NM_004360.5(CDH1):c.1936+13G>A
|
|
|
NM_004360.5(CDH1):c.1936+17T>C
|
rs2152138662
|
|
NM_004360.5(CDH1):c.1936+1G>A
|
rs2152138630
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
NM_004360.5(CDH1):c.1936+5G>A
|
rs1567512631
|
|
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.1936+9C>T
|
|
|
NM_004360.5(CDH1):c.1937-111C>A
|
|
|
NM_004360.5(CDH1):c.1937-11G>C
|
|
|
NM_004360.5(CDH1):c.1937-11_1937-8dup
|
rs751319164
|
|
NM_004360.5(CDH1):c.1937-12T>C
|
|
|
NM_004360.5(CDH1):c.1937-14A>G
|
rs2152139209
|
|
NM_004360.5(CDH1):c.1937-16T>C
|
|
|
NM_004360.5(CDH1):c.1937-16T>G
|
rs1406580034
|
|
NM_004360.5(CDH1):c.1937-18T>C
|
|
|
NM_004360.5(CDH1):c.1937-19T>C
|
|
|
NM_004360.5(CDH1):c.1937-20_1937-17del
|
|
|
NM_004360.5(CDH1):c.1937-20del
|
|
|
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>G
|
rs1057523153
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
NM_004360.5(CDH1):c.1937-6C>A
|
rs753223955
|
|
NM_004360.5(CDH1):c.1937-6C>T
|
rs753223955
|
|
NM_004360.5(CDH1):c.1937-9T>A
|
rs765700023
|
|
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.1939C>T (p.Gln647Ter)
|
rs778195664
|
|
NM_004360.5(CDH1):c.1941A>G (p.Gln647=)
|
|
|
NM_004360.5(CDH1):c.1942G>A (p.Glu648Lys)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1944A>G (p.Glu648=)
|
rs1596965497
|
|
NM_004360.5(CDH1):c.1944A>T (p.Glu648Asp)
|
rs1596965497
|
|
NM_004360.5(CDH1):c.1947T>A (p.Ser649=)
|
|
|
NM_004360.5(CDH1):c.1948A>G (p.Ile650Val)
|
rs1555517077
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
NM_004360.5(CDH1):c.1950C>T (p.Ile650=)
|
rs786202320
|
|
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.1955dup (p.Leu652fs)
|
|
|
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>A (p.Lys653=)
|
rs1596965552
|
|
NM_004360.5(CDH1):c.1959G>T (p.Lys653Asn)
|
rs1596965552
|
|
NM_004360.5(CDH1):c.195G>A (p.Arg65=)
|
rs1057522751
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
NM_004360.5(CDH1):c.1962_1971del (p.Pro654_Lys655insTer)
|
rs1961224909
|
|
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.1965del (p.Met656fs)
|
|
|
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.1972T>C (p.Leu658=)
|
|
|
NM_004360.5(CDH1):c.1973dup (p.Leu658fs)
|
rs1961225620
|
|
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.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1980G>A (p.Val660=)
|
rs2152139319
|
|
NM_004360.5(CDH1):c.1982G>A (p.Gly661Asp)
|
rs756092625
|
|
NM_004360.5(CDH1):c.1982del (p.Gly661fs)
|
rs1596965628
|
|
NM_004360.5(CDH1):c.1982dup (p.Gly661_Asp662insTer)
|
|
|
NM_004360.5(CDH1):c.1983T>C (p.Gly661=)
|
rs748114797
|
|
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.1984_1987dup (p.Tyr663Ter)
|
|
|
NM_004360.5(CDH1):c.1985A>G (p.Asp662Gly)
|
|
|
NM_004360.5(CDH1):c.1985A>T (p.Asp662Val)
|
rs1961226929
|
|
NM_004360.5(CDH1):c.1989C>T (p.Tyr663=)
|
|
|
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.1993del (p.Ile665fs)
|
rs1567513227
|
|
NM_004360.5(CDH1):c.1997A>G (p.Asn666Ser)
|
|
|
NM_004360.5(CDH1):c.1998T>A (p.Asn666Lys)
|
rs1167042883
|
|
NM_004360.5(CDH1):c.1998T>C (p.Asn666=)
|
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.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.19A>G (p.Ser7Gly)
|
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.1A>T (p.Met1Leu)
|
|
|
NM_004360.5(CDH1):c.2001C>G (p.Leu667=)
|
rs1961228237
|
|
NM_004360.5(CDH1):c.2003A>G (p.Lys668Arg)
|
|
|
NM_004360.5(CDH1):c.2004G>A (p.Lys668=)
|
rs2152139367
|
|
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.2007C>T (p.Leu669=)
|
rs1596965732
|
|
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.2016C>T (p.Asn672=)
|
rs2152139394
|
|
NM_004360.5(CDH1):c.2018del (p.Gln673fs)
|
rs1961229029
|
|
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.2029dup (p.Gln677fs)
|
rs1555517100
|
|
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.202del (p.Tyr68fs)
|
rs786202151
|
|
NM_004360.5(CDH1):c.2031del (p.Gln677_Val678insTer)
|
|
|
NM_004360.5(CDH1):c.2032G>A (p.Val678Met)
|
rs764788846
|
|
NM_004360.5(CDH1):c.2033dup (p.Thr679fs)
|
|
|
NM_004360.5(CDH1):c.2034G>A (p.Val678=)
|
rs2152139423
|
|
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.2037C>G (p.Thr679=)
|
|
|
NM_004360.5(CDH1):c.2038A>G (p.Thr680Ala)
|
rs876658936
|
|
NM_004360.5(CDH1):c.2039C>T (p.Thr680Ile)
|
|
|
NM_004360.5(CDH1):c.2041T>C (p.Leu681=)
|
rs1555517106
|
|
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.2049_2056del (p.Val683_Ser684insTer)
|
|
|
NM_004360.5(CDH1):c.2051G>A (p.Ser684Asn)
|
|
|
NM_004360.5(CDH1):c.2053G>C (p.Val685Leu)
|
rs550612843
|
|
NM_004360.5(CDH1):c.2054dup (p.Cys686fs)
|
rs2152139452
|
|
NM_004360.5(CDH1):c.2055G>A (p.Val685=)
|
|
|
NM_004360.5(CDH1):c.2055G>C (p.Val685=)
|
|
|
NM_004360.5(CDH1):c.2056T>C (p.Cys686Arg)
|
|
|
NM_004360.5(CDH1):c.2062del (p.Cys688fs)
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2068G>A (p.Gly690Arg)
|
|
|
NM_004360.5(CDH1):c.2069G>A (p.Gly690Glu)
|
rs1272471005
|
|
NM_004360.5(CDH1):c.2070G>A (p.Gly690=)
|
rs757587966
|
|
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.2076_2077inv (p.Gly693Ser)
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
NM_004360.5(CDH1):c.2082C>T (p.Val694=)
|
rs2152139529
|
|
NM_004360.5(CDH1):c.2084G>A (p.Cys695Tyr)
|
rs1961233403
|
|
NM_004360.5(CDH1):c.2084G>T (p.Cys695Phe)
|
|
|
NM_004360.5(CDH1):c.2085T>A (p.Cys695Ter)
|
|
|
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.208dup (p.Ser70fs)
|
rs1555514406
|
|
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.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
NM_004360.5(CDH1):c.2097G>A (p.Gln699=)
|
rs2152139545
|
|
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.2100del (p.Val701fs)
|
rs1555517136
|
|
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.2104G>T (p.Glu702Ter)
|
rs149127230
|
|
NM_004360.5(CDH1):c.2108C>G (p.Ala703Gly)
|
|
|
NM_004360.5(CDH1):c.2109A>G (p.Ala703=)
|
|
|
NM_004360.5(CDH1):c.210C>T (p.Ser70=)
|
rs1597884617
|
|
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.2113T>C (p.Leu705=)
|
rs369525438
|
|
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
|
|
|
NM_004360.5(CDH1):c.2115G>T (p.Leu705Phe)
|
rs759256066
|
|
NM_004360.5(CDH1):c.2116C>T (p.Gln706Ter)
|
|
|
NM_004360.5(CDH1):c.2116del (p.Gln706fs)
|
rs1961235503
|
|
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.2124T>A (p.Pro708=)
|
rs786201660
|
|
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.2131C>T (p.Leu711=)
|
rs121964871
|
|
NM_004360.5(CDH1):c.2132T>C (p.Leu711Pro)
|
|
|
NM_004360.5(CDH1):c.2133G>A (p.Leu711=)
|
rs2152139627
|
|
NM_004360.5(CDH1):c.2136G>A (p.Gly712=)
|
rs763402728
|
|
NM_004360.5(CDH1):c.2136G>C (p.Gly712=)
|
|
|
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.213C>G (p.Leu71=)
|
rs376667778
|
|
NM_004360.5(CDH1):c.2141T>A (p.Leu714His)
|
|
|
NM_004360.5(CDH1):c.2141T>C (p.Leu714Pro)
|
rs2152139650
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
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.2151T>C (p.Ile717=)
|
rs1205147360
|
|
NM_004360.5(CDH1):c.2152C>A (p.Leu718Ile)
|
rs876658591
|
|
NM_004360.5(CDH1):c.2157T>C (p.Ala719=)
|
rs762224244
|
|
NM_004360.5(CDH1):c.215A>T (p.Asp72Val)
|
|
|
NM_004360.5(CDH1):c.2160G>T (p.Leu720Phe)
|
|
|
NM_004360.5(CDH1):c.2161C>T (p.Leu721=)
|
|
|
NM_004360.5(CDH1):c.2163A>C (p.Leu721=)
|
|
|
NM_004360.5(CDH1):c.2163A>G (p.Leu721=)
|
rs767867011
|
|
NM_004360.5(CDH1):c.2164+10G>A
|
rs753911528
|
|
NM_004360.5(CDH1):c.2164+10G>C
|
rs753911528
|
|
NM_004360.5(CDH1):c.2164+10G>T
|
rs753911528
|
|
NM_004360.5(CDH1):c.2164+15C>T
|
rs777904889
|
|
NM_004360.5(CDH1):c.2164+16A>G
|
|
|
NM_004360.5(CDH1):c.2164+17dup
|
rs34939176
|
|
NM_004360.5(CDH1):c.2164+18G>A
|
|
|
NM_004360.5(CDH1):c.2164+1G>A
|
|
|
NM_004360.5(CDH1):c.2164+1G>C
|
rs1961238458
|
|
NM_004360.5(CDH1):c.2164+1G>T
|
|
|
NM_004360.5(CDH1):c.2164+1_2164+2del
|
|
|
NM_004360.5(CDH1):c.2164+1del
|
|
|
NM_004360.5(CDH1):c.2164+2T>A
|
|
|
NM_004360.5(CDH1):c.2164+3_2164+6del
|
rs1415253676
|
|
NM_004360.5(CDH1):c.2164+4A>C
|
rs1961238672
|
|
NM_004360.5(CDH1):c.2164+5G>A
|
|
|
NM_004360.5(CDH1):c.2164+6_2439+966del
|
|
|
NM_004360.5(CDH1):c.2164+7C>A
|
rs756306151
|
|
NM_004360.5(CDH1):c.2164+7C>G
|
rs756306151
|
|
NM_004360.5(CDH1):c.2164+8C>T
|
rs780024078
|
|
NM_004360.5(CDH1):c.2164+9A>C
|
rs1596966209
|
|
NM_004360.5(CDH1):c.2164+9A>G
|
rs1596966209
|
|
NM_004360.5(CDH1):c.2164A>C (p.Ile722Leu)
|
rs1596966182
|
|
NM_004360.5(CDH1):c.2165-111G>C
|
|
|
NM_004360.5(CDH1):c.2165-11C>A
|
|
|
NM_004360.5(CDH1):c.2165-11C>G
|
rs766659597
|
|
NM_004360.5(CDH1):c.2165-11dup
|
|
|
NM_004360.5(CDH1):c.2165-12C>A
|
|
|
NM_004360.5(CDH1):c.2165-12C>G
|
rs760834250
|
|
NM_004360.5(CDH1):c.2165-14C>A
|
|
|
NM_004360.5(CDH1):c.2165-14C>T
|
rs1369257168
|
|
NM_004360.5(CDH1):c.2165-17C>T
|
rs730881657
|
|
NM_004360.5(CDH1):c.2165-19G>C
|
rs1555517632
|
|
NM_004360.5(CDH1):c.2165-19G>T
|
rs1555517632
|
|
NM_004360.5(CDH1):c.2165-1G>A
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-1G>T
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165-2A>C
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2165-2A>G
|
rs1596970624
|
|
NM_004360.5(CDH1):c.2165-4C>T
|
rs1060504170
|
|
NM_004360.5(CDH1):c.2165-59C>T
|
|
|
NM_004360.5(CDH1):c.2165-5C>T
|
rs1567515317
|
|
NM_004360.5(CDH1):c.2165-6T>C
|
rs2152141358
|
|
NM_004360.5(CDH1):c.2165-6dup
|
rs2152141362
|
|
NM_004360.5(CDH1):c.2165-7A>G
|
rs1961372418
|
|
NM_004360.5(CDH1):c.2165-8C>A
|
rs1555517633
|
|
NM_004360.5(CDH1):c.2165-8C>T
|
rs1555517633
|
|
NM_004360.5(CDH1):c.2165-9C>G
|
|
|
NM_004360.5(CDH1):c.2165-9C>T
|
rs1596970607
|
|
NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)
|
rs878854682
|
|
NM_004360.5(CDH1):c.2168T>C (p.Leu723Pro)
|
|
|
NM_004360.5(CDH1):c.2169G>A (p.Leu723=)
|
rs2152141376
|
|
NM_004360.5(CDH1):c.216C>T (p.Asp72=)
|
rs2152126685
|
|
NM_004360.5(CDH1):c.2174T>G (p.Leu725Arg)
|
rs2152141384
|
|
NM_004360.5(CDH1):c.2175G>A (p.Leu725=)
|
|
|
NM_004360.5(CDH1):c.2178G>A (p.Leu726=)
|
rs751544748
|
|
NM_004360.5(CDH1):c.2181C>T (p.Leu727=)
|
rs781156061
|
|
NM_004360.5(CDH1):c.2183T>A (p.Leu728Ter)
|
|
|
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.2187G>C (p.Leu729=)
|
rs961833483
|
|
NM_004360.5(CDH1):c.218C>A (p.Thr73Asn)
|
rs1555514410
|
|
NM_004360.5(CDH1):c.218C>G (p.Thr73Ser)
|
|
|
NM_004360.5(CDH1):c.2190_2193del (p.Leu731fs)
|
|
|
NM_004360.5(CDH1):c.2191C>T (p.Leu731Phe)
|
rs1060501235
|
|
NM_004360.5(CDH1):c.2194C>G (p.Arg732Gly)
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.2198G>A (p.Arg733Lys)
|
rs2152141417
|
|
NM_004360.5(CDH1):c.2199G>A (p.Arg733=)
|
rs1555517637
|
|
NM_004360.5(CDH1):c.2199G>T (p.Arg733Ser)
|
rs1555517637
|
|
NM_004360.5(CDH1):c.219C>A (p.Thr73=)
|
rs1567501098
|
|
NM_004360.5(CDH1):c.21C>T (p.Ser7=)
|
rs1555509640
|
|
NM_004360.5(CDH1):c.2200A>T (p.Arg734Ter)
|
|
|
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.2205G>C (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.2208G>A (p.Val736=)
|
rs745899007
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2211C>A (p.Val737=)
|
rs1596970764
|
|
NM_004360.5(CDH1):c.2211C>G (p.Val737=)
|
rs1596970764
|
|
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.2217G>A (p.Glu739=)
|
rs1596970771
|
|
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.2220C>T (p.Pro740=)
|
rs1961376847
|
|
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
|
|
|
NM_004360.5(CDH1):c.2222T>A (p.Leu741Ter)
|
rs2152141461
|
|
NM_004360.5(CDH1):c.2222T>G (p.Leu741Ter)
|
|
|
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.2229C>G (p.Pro743=)
|
rs786203083
|
|
NM_004360.5(CDH1):c.2229C>T (p.Pro743=)
|
rs786203083
|
|
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.2232A>G (p.Pro744=)
|
rs879026401
|
|
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.2247G>A (p.Arg749=)
|
rs1555517667
|
|
NM_004360.5(CDH1):c.2247G>C (p.Arg749=)
|
rs1555517667
|
|
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.2253del (p.Asn751fs)
|
rs2152141521
|
|
NM_004360.5(CDH1):c.2258A>G (p.Tyr753Cys)
|
rs1596970973
|
|
NM_004360.5(CDH1):c.2262C>T (p.Tyr754=)
|
rs1596970988
|
|
NM_004360.5(CDH1):c.2263T>C (p.Tyr755His)
|
rs1961380635
|
|
NM_004360.5(CDH1):c.2265T>C (p.Tyr755=)
|
rs876658944
|
|
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.2271A>G (p.Glu757=)
|
rs2152141556
|
|
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)
|
rs786202785
|
|
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.2275G>T (p.Gly759Ter)
|
|
|
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala)
|
rs945866627
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
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.2280C>A (p.Gly760=)
|
rs768547540
|
|
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.2283A>G (p.Gly761=)
|
|
|
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.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.228dup (p.Val77fs)
|
|
|
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.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2293dup (p.Gln765fs)
|
|
|
NM_004360.5(CDH1):c.2294A>T (p.Gln765Leu)
|
|
|
NM_004360.5(CDH1):c.2295+10G>C
|
|
|
NM_004360.5(CDH1):c.2295+14del
|
|
|
NM_004360.5(CDH1):c.2295+19G>A
|
|
|
NM_004360.5(CDH1):c.2295+1G>A
|
|
|
NM_004360.5(CDH1):c.2295+1G>C
|
rs1596971108
|
|
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.2295+8T>G
|
rs2152141611
|
|
NM_004360.5(CDH1):c.2295+9T>G
|
rs2152141612
|
|
NM_004360.5(CDH1):c.2295G>A (p.Gln765=)
|
rs1961383748
|
|
NM_004360.5(CDH1):c.2296-10T>A
|
|
|
NM_004360.5(CDH1):c.2296-12T>C
|
rs1555517817
|
|
NM_004360.5(CDH1):c.2296-14T>A
|
rs755950355
|
|
NM_004360.5(CDH1):c.2296-14T>G
|
|
|
NM_004360.5(CDH1):c.2296-15C>A
|
|
|
NM_004360.5(CDH1):c.2296-15C>G
|
rs1057521164
|
|
NM_004360.5(CDH1):c.2296-15C>T
|
rs1057521164
|
|
NM_004360.5(CDH1):c.2296-15del
|
rs1462943595
|
|
NM_004360.5(CDH1):c.2296-16C>T
|
rs1057521683
|
|
NM_004360.5(CDH1):c.2296-16_2296-4del
|
rs2152142187
|
|
NM_004360.5(CDH1):c.2296-17A>G
|
rs2152142185
|
|
NM_004360.5(CDH1):c.2296-18A>C
|
rs750381383
|
|
NM_004360.5(CDH1):c.2296-19C>G
|
rs764266486
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
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.2296-4A>G
|
|
|
NM_004360.5(CDH1):c.2296-60C>A
|
|
|
NM_004360.5(CDH1):c.2296-6C>A
|
rs1961423221
|
|
NM_004360.5(CDH1):c.2296-7T>C
|
|
|
NM_004360.5(CDH1):c.2296-8C>T
|
rs1596972325
|
|
NM_004360.5(CDH1):c.2296-9dup
|
|
|
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.2297_2307delinsTTGA (p.Asp766fs)
|
|
|
NM_004360.5(CDH1):c.2298C>T (p.Asp766=)
|
rs1057523470
|
|
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.2301del (p.Phe767fs)
|
|
|
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.2310C>T (p.Ser770=)
|
rs754162869
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
NM_004360.5(CDH1):c.2311_2317del (p.Gln771fs)
|
|
|
NM_004360.5(CDH1):c.2312A>G (p.Gln771Arg)
|
rs1182000968
|
|
NM_004360.5(CDH1):c.2313G>T (p.Gln771His)
|
|
|
NM_004360.5(CDH1):c.2314C>T (p.Leu772=)
|
|
|
NM_004360.5(CDH1):c.2315T>A (p.Leu772Gln)
|
|
|
NM_004360.5(CDH1):c.2315T>C (p.Leu772Pro)
|
rs1596972390
|
|
NM_004360.5(CDH1):c.2316G>A (p.Leu772=)
|
rs1057523941
|
|
NM_004360.5(CDH1):c.2317C>T (p.His773Tyr)
|
rs1555517823
|
|
NM_004360.5(CDH1):c.2319C>T (p.His773=)
|
rs2152142262
|
|
NM_004360.5(CDH1):c.231G>A (p.Val77=)
|
rs1446769308
|
|
NM_004360.5(CDH1):c.231G>T (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.2324del (p.Gly775fs)
|
rs1060501248
|
|
NM_004360.5(CDH1):c.2325C>A (p.Gly775=)
|
|
|
NM_004360.5(CDH1):c.2326C>T (p.Leu776=)
|
rs765299711
|
|
NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)
|
rs2152142271
|
|
NM_004360.5(CDH1):c.2328G>A (p.Leu776=)
|
|
|
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.2337G>C (p.Arg779=)
|
rs771292184
|
|
NM_004360.5(CDH1):c.2337G>T (p.Arg779=)
|
|
|
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.2340T>C (p.Pro780=)
|
|
|
NM_004360.5(CDH1):c.2343A>C (p.Glu781Asp)
|
|
|
NM_004360.5(CDH1):c.2343A>G (p.Glu781=)
|
rs587780119
|
|
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.2346G>C (p.Val782=)
|
|
|
NM_004360.5(CDH1):c.2347A>G (p.Thr783Ala)
|
rs2152142308
|
|
NM_004360.5(CDH1):c.2349T>G (p.Thr783=)
|
rs1555517848
|
|
NM_004360.5(CDH1):c.234C>T (p.Gly78=)
|
rs1060504174
|
|
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.2351_2352del (p.Arg784fs)
|
|
|
NM_004360.5(CDH1):c.2352T>C (p.Arg784=)
|
rs768796172
|
|
NM_004360.5(CDH1):c.2354A>G (p.Asn785Ser)
|
rs2152142322
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
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.2364A>G (p.Ala788=)
|
rs1555517873
|
|
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.2367A>G (p.Pro789=)
|
rs2152142342
|
|
NM_004360.5(CDH1):c.2368A>G (p.Thr790Ala)
|
rs1596972607
|
|
NM_004360.5(CDH1):c.2370C>A (p.Thr790=)
|
rs1596972620
|
|
NM_004360.5(CDH1):c.2370C>G (p.Thr790=)
|
|
|
NM_004360.5(CDH1):c.2370C>T (p.Thr790=)
|
rs1596972620
|
|
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.237A>G (p.Thr79=)
|
rs1597884701
|
|
NM_004360.5(CDH1):c.2381T>C (p.Val794Ala)
|
rs1447544874
|
|
NM_004360.5(CDH1):c.2382C>T (p.Val794=)
|
rs786203579
|
|
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.2386del (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
|
rs1555517889
|
|
NM_004360.5(CDH1):c.2388G>A (p.Arg796=)
|
|
|
NM_004360.5(CDH1):c.2388G>C (p.Arg796=)
|
rs1287819180
|
|
NM_004360.5(CDH1):c.2388G>T (p.Arg796=)
|
rs1287819180
|
|
NM_004360.5(CDH1):c.2389dup (p.Tyr797fs)
|
rs1961431691
|
|
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.2397C>G (p.Pro799=)
|
rs1246883958
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
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.2406C>T (p.Ala802=)
|
rs1555517903
|
|
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.2416G>T (p.Glu806Ter)
|
|
|
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.2421T>C (p.Ile807=)
|
rs761852331
|
|
NM_004360.5(CDH1):c.2422G>T (p.Gly808Ter)
|
|
|
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.2430del (p.Phe810fs)
|
rs786203752
|
|
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+13C>A
|
rs765027434
|
|
NM_004360.5(CDH1):c.2439+13C>G
|
rs765027434
|
|
NM_004360.5(CDH1):c.2439+16G>A
|
|
|
NM_004360.5(CDH1):c.2439+16G>T
|
|
|
NM_004360.5(CDH1):c.2439+18_2439+32del
|
rs1567516239
|
|
NM_004360.5(CDH1):c.2439+1G>T
|
rs1567516230
|
|
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.2439+8A>C
|
rs2152142497
|
|
NM_004360.5(CDH1):c.2439+8A>G
|
|
|
NM_004360.5(CDH1):c.2439+9T>G
|
rs1555517919
|
|
NM_004360.5(CDH1):c.243T>C (p.Gly81=)
|
rs765879351
|
|
NM_004360.5(CDH1):c.2440-10T>C
|
rs864622564
|
|
NM_004360.5(CDH1):c.2440-118G>A
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
NM_004360.5(CDH1):c.2440-13C>A
|
rs1567517555
|
|
NM_004360.5(CDH1):c.2440-13C>T
|
rs1567517555
|
|
NM_004360.5(CDH1):c.2440-14C>T
|
rs1301388290
|
|
NM_004360.5(CDH1):c.2440-16G>A
|
rs745826347
|
|
NM_004360.5(CDH1):c.2440-18T>C
|
rs773215346
|
|
NM_004360.5(CDH1):c.2440-1G>T
|
rs1596976101
|
|
NM_004360.5(CDH1):c.2440-2A>G
|
rs1555518210
|
|
NM_004360.5(CDH1):c.2440-396_*223del
|
|
|
NM_004360.5(CDH1):c.2440-396_*224delinsGGA
|
rs2152143625
|
|
NM_004360.5(CDH1):c.2440-3T>C
|
|
|
NM_004360.5(CDH1):c.2440-4T>C
|
rs1555518209
|
|
NM_004360.5(CDH1):c.2440-4T>G
|
rs1555518209
|
|
NM_004360.5(CDH1):c.2440-52A>G
|
|
|
NM_004360.5(CDH1):c.2440-5T>C
|
rs1596976081
|
|
NM_004360.5(CDH1):c.2440-6C>T
|
rs139757930
|
|
NM_004360.5(CDH1):c.2440-7T>G
|
rs1014948943
|
|
NM_004360.5(CDH1):c.2440-7del
|
|
|
NM_004360.5(CDH1):c.2440A>G (p.Asn814Asp)
|
rs2152143825
|
|
NM_004360.5(CDH1):c.2441A>G (p.Asn814Ser)
|
|
|
NM_004360.5(CDH1):c.2443C>T (p.Leu815=)
|
|
|
NM_004360.5(CDH1):c.2444T>G (p.Leu815Arg)
|
rs1596976107
|
|
NM_004360.5(CDH1):c.2444del (p.Leu815fs)
|
rs1596976114
|
|
NM_004360.5(CDH1):c.2445G>A (p.Leu815=)
|
rs2152143838
|
|
NM_004360.5(CDH1):c.2446A>G (p.Lys816Glu)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2447A>T (p.Lys816Ile)
|
rs1961532809
|
|
NM_004360.5(CDH1):c.2448A>G (p.Lys816=)
|
rs762704513
|
|
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.244_248del (p.Val82fs)
|
|
|
NM_004360.5(CDH1):c.2450C>A (p.Ala817Glu)
|
|
|
NM_004360.5(CDH1):c.2454T>C (p.Ala818=)
|
rs761471987
|
|
NM_004360.5(CDH1):c.245T>A (p.Val82Glu)
|
rs942284129
|
|
NM_004360.5(CDH1):c.2461_2467del (p.Asp821fs)
|
|
|
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.2466C>T (p.Pro822=)
|
rs2152143868
|
|
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.2469A>G (p.Thr823=)
|
rs2152143874
|
|
NM_004360.5(CDH1):c.246G>A (p.Val82=)
|
rs1597884733
|
|
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.2472C>A (p.Ala824=)
|
rs1596976216
|
|
NM_004360.5(CDH1):c.2474del (p.Pro825fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2475G>A (p.Pro825=)
|
rs755658014
|
|
NM_004360.5(CDH1):c.2475G>C (p.Pro825=)
|
|
|
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.247delinsGTGTGG (p.Ile83fs)
|
|
|
NM_004360.5(CDH1):c.2480A>G (p.Tyr827Cys)
|
rs1555518224
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.2481T>C (p.Tyr827=)
|
rs767045364
|
|
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.2487T>C (p.Ser829=)
|
rs1555518229
|
|
NM_004360.5(CDH1):c.2488C>T (p.Leu830=)
|
rs1961535052
|
|
NM_004360.5(CDH1):c.2488_2489dup (p.Leu831fs)
|
|
|
NM_004360.5(CDH1):c.2490G>A (p.Leu830=)
|
rs754360330
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
NM_004360.5(CDH1):c.2492T>G (p.Leu831Arg)
|
|
|
NM_004360.5(CDH1):c.2493C>A (p.Leu831=)
|
rs779267700
|
|
NM_004360.5(CDH1):c.2493C>G (p.Leu831=)
|
rs779267700
|
|
NM_004360.5(CDH1):c.2493C>T (p.Leu831=)
|
rs779267700
|
|
NM_004360.5(CDH1):c.2494G>T (p.Val832Leu)
|
rs35572355
|
|
NM_004360.5(CDH1):c.2496G>A (p.Val832=)
|
rs2152143935
|
|
NM_004360.5(CDH1):c.2496G>C (p.Val832=)
|
rs2152143935
|
|
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.24C>T (p.Leu8=)
|
rs1057521296
|
|
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.2505_2506dup (p.Glu836fs)
|
rs1555518236
|
|
NM_004360.5(CDH1):c.2510G>A (p.Gly837Glu)
|
rs1961536737
|
|
NM_004360.5(CDH1):c.2511A>C (p.Gly837=)
|
rs2152143962
|
|
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.2517T>A (p.Gly839=)
|
|
|
NM_004360.5(CDH1):c.2517T>C (p.Gly839=)
|
|
|
NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro)
|
rs1555518243
|
|
NM_004360.5(CDH1):c.251C>A (p.Thr84Lys)
|
|
|
NM_004360.5(CDH1):c.2520del (p.Glu841fs)
|
|
|
NM_004360.5(CDH1):c.2521G>C (p.Glu841Gln)
|
rs377489352
|
|
NM_004360.5(CDH1):c.2522A>T (p.Glu841Val)
|
|
|
NM_004360.5(CDH1):c.2526T>C (p.Ala842=)
|
|
|
NM_004360.5(CDH1):c.2527G>A (p.Ala843Thr)
|
rs768350776
|
|
NM_004360.5(CDH1):c.2529T>C (p.Ala843=)
|
rs1596976414
|
|
NM_004360.5(CDH1):c.2529T>G (p.Ala843=)
|
|
|
NM_004360.5(CDH1):c.2529_2530delinsAG (p.Ser844Gly)
|
rs1961538497
|
|
NM_004360.5(CDH1):c.252A>G (p.Thr84=)
|
rs1416475937
|
|
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.2532T>C (p.Ser844=)
|
rs1961538842
|
|
NM_004360.5(CDH1):c.2533C>T (p.Leu845=)
|
rs1281904866
|
|
NM_004360.5(CDH1):c.2534T>A (p.Leu845Gln)
|
|
|
NM_004360.5(CDH1):c.2535G>A (p.Leu845=)
|
rs144902472
|
|
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.2541C>G (p.Ser847=)
|
rs147968870
|
|
NM_004360.5(CDH1):c.2541C>T (p.Ser847=)
|
rs147968870
|
|
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.2550C>G (p.Ser850=)
|
rs1057521295
|
|
NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)
|
rs2152144059
|
|
NM_004360.5(CDH1):c.2552C>G (p.Ser851Ter)
|
|
|
NM_004360.5(CDH1):c.2553A>G (p.Ser851=)
|
rs1555518253
|
|
NM_004360.5(CDH1):c.2554G>A (p.Glu852Lys)
|
|
|
NM_004360.5(CDH1):c.2555A>G (p.Glu852Gly)
|
|
|
NM_004360.5(CDH1):c.2556G>A (p.Glu852=)
|
rs760315494
|
|
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.255C>A (p.Val85=)
|
rs755461028
|
|
NM_004360.5(CDH1):c.255C>T (p.Val85=)
|
rs755461028
|
|
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.2562C>T (p.Asp854=)
|
rs1172127740
|
|
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.2580C>T (p.Asp860=)
|
rs2152144118
|
|
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.2584T>C (p.Leu862=)
|
rs2152144131
|
|
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.258A>G (p.Lys86=)
|
rs2152126783
|
|
NM_004360.5(CDH1):c.2590G>C (p.Glu864Gln)
|
rs142927667
|
|
NM_004360.5(CDH1):c.2592A>G (p.Glu864=)
|
rs2152144154
|
|
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.2598C>A (p.Gly866=)
|
|
|
NM_004360.5(CDH1):c.2598C>T (p.Gly866=)
|
|
|
NM_004360.5(CDH1):c.2599A>G (p.Asn867Asp)
|
|
|
NM_004360.5(CDH1):c.259A>C (p.Arg87=)
|
rs2152126787
|
|
NM_004360.5(CDH1):c.259dup (p.Arg87fs)
|
|
|
NM_004360.5(CDH1):c.25T>G (p.Ser9Ala)
|
rs1555509645
|
|
NM_004360.5(CDH1):c.25_26del (p.Ser9fs)
|
|
|
NM_004360.5(CDH1):c.2600A>C (p.Asn867Thr)
|
|
|
NM_004360.5(CDH1):c.2601T>C (p.Asn867=)
|
rs2152144175
|
|
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.2614C>T (p.Leu872=)
|
rs749203461
|
|
NM_004360.5(CDH1):c.2616G>A (p.Leu872=)
|
rs1596976693
|
|
NM_004360.5(CDH1):c.2617G>A (p.Ala873Thr)
|
|
|
NM_004360.5(CDH1):c.2618C>T (p.Ala873Val)
|
|
|
NM_004360.5(CDH1):c.261G>A (p.Arg87=)
|
rs878854689
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
NM_004360.5(CDH1):c.2620G>C (p.Asp874His)
|
rs1555518283
|
|
NM_004360.5(CDH1):c.2622C>T (p.Asp874=)
|
rs1555518285
|
|
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.2631A>C (p.Gly877=)
|
rs1280792587
|
|
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.2646C>T (p.Asp882=)
|
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.264T>C (p.Pro88=)
|
rs2152126798
|
|
NM_004360.5(CDH1):c.265C>T (p.Leu89=)
|
|
|
NM_004360.5(CDH1):c.267A>C (p.Leu89=)
|
|
|
NM_004360.5(CDH1):c.267dup (p.Arg90fs)
|
|
|
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>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.26C>G (p.Ser9Trp)
|
|
|
NM_004360.5(CDH1):c.26C>T (p.Ser9Leu)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.270G>A (p.Arg90=)
|
rs777822181
|
|
NM_004360.5(CDH1):c.270G>T (p.Arg90=)
|
rs777822181
|
|
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.279C>T (p.Asn93=)
|
rs1051478263
|
|
NM_004360.5(CDH1):c.27G>C (p.Ser9=)
|
rs786201257
|
|
NM_004360.5(CDH1):c.281_283delinsGT (p.Pro94fs)
|
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
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.291T>C (p.His97=)
|
rs2152126862
|
|
NM_004360.5(CDH1):c.293T>A (p.Phe98Tyr)
|
rs1555514451
|
|
NM_004360.5(CDH1):c.294C>T (p.Phe98=)
|
|
|
NM_004360.5(CDH1):c.294delinsTT (p.Leu99fs)
|
|
|
NM_004360.5(CDH1):c.297G>A (p.Leu99=)
|
rs876660223
|
|
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.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.300C>G (p.Val100=)
|
rs786201463
|
|
NM_004360.5(CDH1):c.301_314del (p.Tyr101fs)
|
|
|
NM_004360.5(CDH1):c.302A>G (p.Tyr101Cys)
|
|
|
NM_004360.5(CDH1):c.303C>G (p.Tyr101Ter)
|
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
NM_004360.5(CDH1):c.307T>G (p.Trp103Gly)
|
|
|
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)
|
rs1555514464
|
|
NM_004360.5(CDH1):c.309G>A (p.Trp103Ter)
|
rs2152126900
|
|
NM_004360.5(CDH1):c.309G>C (p.Trp103Cys)
|
|
|
NM_004360.5(CDH1):c.30G>A (p.Ala10=)
|
|
|
NM_004360.5(CDH1):c.30G>T (p.Ala10=)
|
rs1203525339
|
|
NM_004360.5(CDH1):c.311A>G (p.Asp104Gly)
|
|
|
NM_004360.5(CDH1):c.311A>T (p.Asp104Val)
|
rs760351575
|
|
NM_004360.5(CDH1):c.312C>T (p.Asp104=)
|
rs1960517823
|
|
NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)
|
rs1165815510
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
NM_004360.5(CDH1):c.318del (p.Tyr107fs)
|
|
|
NM_004360.5(CDH1):c.31C>T (p.Leu11=)
|
rs2152113973
|
|
NM_004360.5(CDH1):c.31del (p.Leu11fs)
|
rs2152113974
|
|
NM_004360.5(CDH1):c.320A>G (p.Tyr107Cys)
|
rs1060501241
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
NM_004360.5(CDH1):c.321C>T (p.Tyr107=)
|
rs765929630
|
|
NM_004360.5(CDH1):c.322del (p.Arg108fs)
|
|
|
NM_004360.5(CDH1):c.325_326del (p.Lys109fs)
|
rs1960519159
|
|
NM_004360.5(CDH1):c.326del (p.Lys109fs)
|
|
|
NM_004360.5(CDH1):c.327G>A (p.Lys109=)
|
rs1057522987
|
|
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.331del (p.Ser111fs)
|
|
|
NM_004360.5(CDH1):c.332C>T (p.Ser111Phe)
|
rs1567501376
|
|
NM_004360.5(CDH1):c.333del (p.Thr112fs)
|
|
|
NM_004360.5(CDH1):c.336C>A (p.Thr112=)
|
rs876660703
|
|
NM_004360.5(CDH1):c.336del (p.Val114fs)
|
|
|
NM_004360.5(CDH1):c.338A>C (p.Lys113Thr)
|
rs1960520003
|
|
NM_004360.5(CDH1):c.340G>A (p.Val114Ile)
|
|
|
NM_004360.5(CDH1):c.342C>G (p.Val114=)
|
rs1555514470
|
|
NM_004360.5(CDH1):c.342C>T (p.Val114=)
|
rs1555514470
|
|
NM_004360.5(CDH1):c.343A>G (p.Thr115Ala)
|
|
|
NM_004360.5(CDH1):c.344C>G (p.Thr115Arg)
|
rs370973869
|
|
NM_004360.5(CDH1):c.346C>T (p.Leu116=)
|
rs1555514474
|
|
NM_004360.5(CDH1):c.348_351dup (p.Thr118fs)
|
rs2152126989
|
|
NM_004360.5(CDH1):c.34C>T (p.Leu12=)
|
rs781696878
|
|
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.351T>C (p.Asn117=)
|
rs1555514475
|
|
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.357G>T (p.Val119=)
|
rs764499933
|
|
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.360del (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.360dup (p.His121fs)
|
rs878854690
|
|
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.363C>T (p.His121=)
|
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.366C>T (p.His122=)
|
rs140123339
|
|
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.372C>A (p.Arg124=)
|
rs786201511
|
|
NM_004360.5(CDH1):c.372C>G (p.Arg124=)
|
rs786201511
|
|
NM_004360.5(CDH1):c.372C>T (p.Arg124=)
|
rs786201511
|
|
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>G (p.Pro125=)
|
rs773044699
|
|
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.376_382del (p.Pro126fs)
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
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.377del (p.Pro126fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.379C>A (p.Pro127Thr)
|
rs1060501250
|
|
NM_004360.5(CDH1):c.381C>T (p.Pro127=)
|
rs62055766
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.383A>G (p.His128Arg)
|
rs1960525322
|
|
NM_004360.5(CDH1):c.384dup (p.Gln129fs)
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
NM_004360.5(CDH1):c.387+11A>G
|
|
|
NM_004360.5(CDH1):c.387+11A>T
|
|
|
NM_004360.5(CDH1):c.387+13T>G
|
rs2152127104
|
|
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+5G>T
|
|
|
NM_004360.5(CDH1):c.387+6T>A
|
|
|
NM_004360.5(CDH1):c.387+76C>A
|
|
|
NM_004360.5(CDH1):c.387+7T>A
|
rs1555514499
|
|
NM_004360.5(CDH1):c.387+9G>A
|
rs1296702309
|
|
NM_004360.5(CDH1):c.387G>C (p.Gln129His)
|
|
|
NM_004360.5(CDH1):c.387G>T (p.Gln129His)
|
rs764700595
|
|
NM_004360.5(CDH1):c.388-12C>G
|
rs1960723322
|
|
NM_004360.5(CDH1):c.388-12C>T
|
rs1960723322
|
|
NM_004360.5(CDH1):c.388-12_388-10del
|
rs1213234602
|
|
NM_004360.5(CDH1):c.388-15C>G
|
|
|
NM_004360.5(CDH1):c.388-17A>T
|
rs571617503
|
|
NM_004360.5(CDH1):c.388-18C>T
|
rs1555515167
|
|
NM_004360.5(CDH1):c.388-19T>A
|
|
|
NM_004360.5(CDH1):c.388-1G>T
|
|
|
NM_004360.5(CDH1):c.388-20C>A
|
|
|
NM_004360.5(CDH1):c.388-20C>T
|
|
|
NM_004360.5(CDH1):c.388-21_388-20del
|
|
|
NM_004360.5(CDH1):c.388-3T>C
|
rs112139520
|
|
NM_004360.5(CDH1):c.388-7C>T
|
rs201402744
|
|
NM_004360.5(CDH1):c.388-8C>G
|
rs774601444
|
|
NM_004360.5(CDH1):c.388-9T>C
|
rs2152129573
|
|
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.390C>G (p.Ala130=)
|
rs1555515177
|
|
NM_004360.5(CDH1):c.390C>T (p.Ala130=)
|
rs1555515177
|
|
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.399T>G (p.Ser133=)
|
rs1801024
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
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.405C>T (p.Ile135=)
|
rs1047878465
|
|
NM_004360.5(CDH1):c.407A>G (p.Gln136Arg)
|
rs1184630483
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
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.410del (p.Ala137fs)
|
|
|
NM_004360.5(CDH1):c.413A>G (p.Glu138Gly)
|
rs864622284
|
|
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.415T>C (p.Leu139=)
|
rs2152129630
|
|
NM_004360.5(CDH1):c.416del (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.417G>A (p.Leu139=)
|
rs1057521858
|
|
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.419_420del (p.Leu140fs)
|
|
|
NM_004360.5(CDH1):c.420C>A (p.Leu140=)
|
|
|
NM_004360.5(CDH1):c.420C>G (p.Leu140=)
|
rs763562818
|
|
NM_004360.5(CDH1):c.421A>C (p.Thr141Pro)
|
|
|
NM_004360.5(CDH1):c.423A>G (p.Thr141=)
|
rs1597890499
|
|
NM_004360.5(CDH1):c.423A>T (p.Thr141=)
|
|
|
NM_004360.5(CDH1):c.423_424dup (p.Phe142fs)
|
|
|
NM_004360.5(CDH1):c.428C>T (p.Pro143Leu)
|
rs777714207
|
|
NM_004360.5(CDH1):c.42dup (p.Leu15fs)
|
|
|
NM_004360.5(CDH1):c.431A>G (p.Asn144Ser)
|
rs1597890516
|
|
NM_004360.5(CDH1):c.431del (p.Asn144fs)
|
|
|
NM_004360.5(CDH1):c.434C>A (p.Ser145Tyr)
|
rs1960726290
|
|
NM_004360.5(CDH1):c.435C>T (p.Ser145=)
|
rs1060504177
|
|
NM_004360.5(CDH1):c.437C>T (p.Ser146Phe)
|
|
|
NM_004360.5(CDH1):c.438T>C (p.Ser146=)
|
rs2152129677
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
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.441T>A (p.Pro147=)
|
|
|
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.444C>G (p.Gly148=)
|
rs1555515203
|
|
NM_004360.5(CDH1):c.444C>T (p.Gly148=)
|
rs1555515203
|
|
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.454_460del (p.Gln152fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
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.455_465del (p.Gln152fs)
|
rs1555515210
|
|
NM_004360.5(CDH1):c.456G>A (p.Gln152=)
|
rs745589555
|
|
NM_004360.5(CDH1):c.456_457delinsTT (p.Gln152_Lys153delinsHisTer)
|
|
|
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter)
|
rs1567504575
|
|
NM_004360.5(CDH1):c.459G>C (p.Lys153Asn)
|
|
|
NM_004360.5(CDH1):c.459G>T (p.Lys153Asn)
|
|
|
NM_004360.5(CDH1):c.45G>A (p.Leu15=)
|
rs746331438
|
|
NM_004360.5(CDH1):c.45_46insT (p.Gln16fs)
|
|
|
NM_004360.5(CDH1):c.464A>G (p.Asp155Gly)
|
|
|
NM_004360.5(CDH1):c.464_467dup (p.Trp156Ter)
|
|
|
NM_004360.5(CDH1):c.465C>G (p.Asp155Glu)
|
rs1597890615
|
|
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)
|
rs1555515215
|
|
NM_004360.5(CDH1):c.469G>A (p.Val157Ile)
|
rs1960728608
|
|
NM_004360.5(CDH1):c.46C>G (p.Gln16Glu)
|
|
|
NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)
|
|
|
NM_004360.5(CDH1):c.470T>C (p.Val157Ala)
|
rs587783046
|
|
NM_004360.5(CDH1):c.471dup (p.Ile158fs)
|
rs1960728762
|
|
NM_004360.5(CDH1):c.479_480del (p.Pro160fs)
|
|
|
NM_004360.5(CDH1):c.47A>G (p.Gln16Arg)
|
|
|
NM_004360.5(CDH1):c.47A>T (p.Gln16Leu)
|
rs775705607
|
|
NM_004360.5(CDH1):c.47dup (p.Val17fs)
|
|
|
NM_004360.5(CDH1):c.48+10A>G
|
rs1057520986
|
|
NM_004360.5(CDH1):c.48+10A>T
|
rs1057520986
|
|
NM_004360.5(CDH1):c.48+12C>A
|
rs1221801902
|
|
NM_004360.5(CDH1):c.48+13C>T
|
rs1057520555
|
|
NM_004360.5(CDH1):c.48+14C>T
|
rs765134569
|
|
NM_004360.5(CDH1):c.48+15C>G
|
|
|
NM_004360.5(CDH1):c.48+16T>C
|
rs587782389
|
|
NM_004360.5(CDH1):c.48+16T>G
|
|
|
NM_004360.5(CDH1):c.48+17G>A
|
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.48+1G>C
|
|
|
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+7C>G
|
rs587782380
|
|
NM_004360.5(CDH1):c.48+83C>T
|
|
|
NM_004360.5(CDH1):c.48+8G>A
|
|
|
NM_004360.5(CDH1):c.48+8G>T
|
rs1322726212
|
|
NM_004360.5(CDH1):c.480C>T (p.Pro160=)
|
rs769371658
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
NM_004360.5(CDH1):c.483C>A (p.Ile161=)
|
rs779445240
|
|
NM_004360.5(CDH1):c.484_485delinsT (p.Cys163fs)
|
|
|
NM_004360.5(CDH1):c.485G>T (p.Ser162Ile)
|
rs1567504603
|
|
NM_004360.5(CDH1):c.486C>T (p.Ser162=)
|
rs1555515219
|
|
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>A (p.Cys163Ter)
|
rs1064794230
|
|
NM_004360.5(CDH1):c.489C>G (p.Cys163Trp)
|
rs1064794230
|
|
NM_004360.5(CDH1):c.489C>T (p.Cys163=)
|
|
|
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.49-10C>T
|
rs975083998
|
|
NM_004360.5(CDH1):c.49-11C>T
|
rs746446678
|
|
NM_004360.5(CDH1):c.49-12C>T
|
|
|
NM_004360.5(CDH1):c.49-13T>A
|
|
|
NM_004360.5(CDH1):c.49-13T>C
|
|
|
NM_004360.5(CDH1):c.49-13dup
|
rs2152114312
|
|
NM_004360.5(CDH1):c.49-14T>G
|
rs2152114314
|
|
NM_004360.5(CDH1):c.49-15T>A
|
rs780547331
|
|
NM_004360.5(CDH1):c.49-16C>A
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
NM_004360.5(CDH1):c.49-16C>T
|
rs1057517618
|
|
NM_004360.5(CDH1):c.49-16_49-15insA
|
|
|
NM_004360.5(CDH1):c.49-17C>T
|
|
|
NM_004360.5(CDH1):c.49-19T>C
|
rs1555509751
|
|
NM_004360.5(CDH1):c.49-1G>A
|
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
NM_004360.5(CDH1):c.49-1G>T
|
|
|
NM_004360.5(CDH1):c.49-20C>T
|
rs545811852
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.49-3C>A
|
rs587782366
|
|
NM_004360.5(CDH1):c.49-3C>G
|
|
|
NM_004360.5(CDH1):c.49-4C>G
|
rs1057520916
|
|
NM_004360.5(CDH1):c.49-5C>G
|
rs1962455069
|
|
NM_004360.5(CDH1):c.49-5C>T
|
rs1962455069
|
|
NM_004360.5(CDH1):c.49-6C>G
|
|
|
NM_004360.5(CDH1):c.49-6C>T
|
rs1353157721
|
|
NM_004360.5(CDH1):c.49-8C>T
|
rs774761552
|
|
NM_004360.5(CDH1):c.49-8del
|
|
|
NM_004360.5(CDH1):c.49-8dup
|
rs1240151598
|
|
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.497del (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.497dup (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.498T>C (p.Asn166=)
|
rs1555515224
|
|
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.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004360.5(CDH1):c.505G>A (p.Gly169Ser)
|
rs1597890692
|
|
NM_004360.5(CDH1):c.506del (p.Gly169fs)
|
|
|
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.510A>C (p.Pro170=)
|
rs774962542
|
|
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.516T>C (p.Pro172=)
|
|
|
NM_004360.5(CDH1):c.516T>G (p.Pro172=)
|
rs2152129814
|
|
NM_004360.5(CDH1):c.519A>C (p.Lys173Asn)
|
|
|
NM_004360.5(CDH1):c.51C>T (p.Val17=)
|
rs1597838436
|
|
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.521del (p.Asn174fs)
|
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004360.5(CDH1):c.522C>A (p.Asn174Lys)
|
rs571581856
|
|
NM_004360.5(CDH1):c.522C>G (p.Asn174Lys)
|
|
|
NM_004360.5(CDH1):c.522C>T (p.Asn174=)
|
rs571581856
|
|
NM_004360.5(CDH1):c.525G>C (p.Leu175=)
|
|
|
NM_004360.5(CDH1):c.526G>A (p.Val176Ile)
|
rs2152129832
|
|
NM_004360.5(CDH1):c.528T>C (p.Val176=)
|
rs1555515230
|
|
NM_004360.5(CDH1):c.52_53dup (p.Ser19fs)
|
rs1962455626
|
|
NM_004360.5(CDH1):c.531+10G>T
|
rs33963999
|
|
NM_004360.5(CDH1):c.531+12A>T
|
|
|
NM_004360.5(CDH1):c.531+13G>A
|
|
|
NM_004360.5(CDH1):c.531+14T>A
|
rs1393798077
|
|
NM_004360.5(CDH1):c.531+14T>C
|
|
|
NM_004360.5(CDH1):c.531+16C>A
|
rs376565246
|
|
NM_004360.5(CDH1):c.531+16C>G
|
rs376565246
|
|
NM_004360.5(CDH1):c.531+16C>T
|
rs376565246
|
|
NM_004360.5(CDH1):c.531+17T>C
|
rs1057520562
|
|
NM_004360.5(CDH1):c.531+18_531+19del
|
rs779748364
|
|
NM_004360.5(CDH1):c.531+19T>C
|
|
|
NM_004360.5(CDH1):c.531+19del
|
rs2152129873
|
|
NM_004360.5(CDH1):c.531+1G>A
|
rs1131690808
|
|
NM_004360.5(CDH1):c.531+1G>C
|
rs1131690808
|
|
NM_004360.5(CDH1):c.531+1del
|
|
|
NM_004360.5(CDH1):c.531+20_531+25del
|
|
|
NM_004360.5(CDH1):c.531+2T>C
|
|
|
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.531+8A>G
|
rs2152129854
|
|
NM_004360.5(CDH1):c.531+9_531+12del
|
rs1597890765
|
|
NM_004360.5(CDH1):c.531G>A (p.Gln177=)
|
rs876659103
|
|
NM_004360.5(CDH1):c.532-13A>G
|
|
|
NM_004360.5(CDH1):c.532-15T>C
|
|
|
NM_004360.5(CDH1):c.532-17T>C
|
|
|
NM_004360.5(CDH1):c.532-18del
|
rs2152130015
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.532-1del
|
|
|
NM_004360.5(CDH1):c.532-25T>C
|
|
|
NM_004360.5(CDH1):c.532-2A>C
|
|
|
NM_004360.5(CDH1):c.532-2A>G
|
|
|
NM_004360.5(CDH1):c.532-4T>C
|
rs2152130035
|
|
NM_004360.5(CDH1):c.532-7T>A
|
|
|
NM_004360.5(CDH1):c.532-7T>G
|
|
|
NM_004360.5(CDH1):c.532-8G>A
|
rs1960735285
|
|
NM_004360.5(CDH1):c.532-8G>C
|
rs1960735285
|
|
NM_004360.5(CDH1):c.532A>G (p.Ile178Val)
|
|
|
NM_004360.5(CDH1):c.534C>A (p.Ile178=)
|
|
|
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu)
|
rs1555515244
|
|
NM_004360.5(CDH1):c.537del (p.Lys179fs)
|
rs2152130050
|
|
NM_004360.5(CDH1):c.53C>A (p.Ser18Tyr)
|
|
|
NM_004360.5(CDH1):c.540C>T (p.Ser180=)
|
rs1597890935
|
|
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.546A>G (p.Lys182=)
|
rs201141645
|
|
NM_004360.5(CDH1):c.547G>A (p.Asp183Asn)
|
|
|
NM_004360.5(CDH1):c.548A>G (p.Asp183Gly)
|
rs1960736116
|
|
NM_004360.5(CDH1):c.549C>T (p.Asp183=)
|
rs1567504746
|
|
NM_004360.5(CDH1):c.550A>G (p.Lys184Glu)
|
|
|
NM_004360.5(CDH1):c.552A>C (p.Lys184Asn)
|
rs1555515248
|
|
NM_004360.5(CDH1):c.552_555del (p.Glu185fs)
|
rs2152130073
|
|
NM_004360.5(CDH1):c.553G>T (p.Glu185Ter)
|
|
|
NM_004360.5(CDH1):c.554A>T (p.Glu185Val)
|
rs1060501228
|
|
NM_004360.5(CDH1):c.555del (p.Gly186fs)
|
rs2152130081
|
|
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.558C>T (p.Gly186=)
|
rs876660863
|
|
NM_004360.5(CDH1):c.55T>C (p.Ser19Pro)
|
|
|
NM_004360.5(CDH1):c.55_74del (p.Ser19fs)
|
|
|
NM_004360.5(CDH1):c.562G>C (p.Val188Leu)
|
rs775484115
|
|
NM_004360.5(CDH1):c.563T>C (p.Val188Ala)
|
|
|
NM_004360.5(CDH1):c.564T>C (p.Val188=)
|
rs2152130105
|
|
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.570C>A (p.Tyr190Ter)
|
rs761753486
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.572G>A (p.Ser191Asn)
|
rs2152130119
|
|
NM_004360.5(CDH1):c.573C>T (p.Ser191=)
|
rs1185108871
|
|
NM_004360.5(CDH1):c.576C>A (p.Ile192=)
|
|
|
NM_004360.5(CDH1):c.576C>T (p.Ile192=)
|
rs2152130125
|
|
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.582C>G (p.Gly194=)
|
rs786202924
|
|
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.586G>T (p.Gly196Ter)
|
|
|
NM_004360.5(CDH1):c.587G>A (p.Gly196Glu)
|
|
|
NM_004360.5(CDH1):c.588A>G (p.Gly196=)
|
rs1597891031
|
|
NM_004360.5(CDH1):c.58T>A (p.Trp20Arg)
|
|
|
NM_004360.5(CDH1):c.591T>G (p.Ala197=)
|
rs2152130151
|
|
NM_004360.5(CDH1):c.592G>C (p.Asp198His)
|
rs1308439785
|
|
NM_004360.5(CDH1):c.593A>T (p.Asp198Val)
|
|
|
NM_004360.5(CDH1):c.594C>T (p.Asp198=)
|
rs2152130155
|
|
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>C (p.Thr199=)
|
|
|
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>A (p.Trp20Ter)
|
rs121964875
|
|
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.600C>A (p.Pro200=)
|
rs973385466
|
|
NM_004360.5(CDH1):c.600C>G (p.Pro200=)
|
rs973385466
|
|
NM_004360.5(CDH1):c.600C>T (p.Pro200=)
|
rs973385466
|
|
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.602_603del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602dup (p.Val202fs)
|
|
|
NM_004360.5(CDH1):c.603T>C (p.Pro201=)
|
rs2152130170
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
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.606T>C (p.Val202=)
|
|
|
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.609T>A (p.Gly203=)
|
rs1597891089
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
NM_004360.5(CDH1):c.60del (p.Trp20fs)
|
rs2152114347
|
|
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.612C>A (p.Val204=)
|
|
|
NM_004360.5(CDH1):c.612C>T (p.Val204=)
|
rs1555515273
|
|
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.621T>C (p.Ile207=)
|
rs1597891129
|
|
NM_004360.5(CDH1):c.624A>G (p.Glu208=)
|
|
|
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.628G>T (p.Glu210Ter)
|
|
|
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.631del (p.Thr211fs)
|
rs1597891145
|
|
NM_004360.5(CDH1):c.632_633del (p.Thr211fs)
|
|
|
NM_004360.5(CDH1):c.634G>C (p.Gly212Arg)
|
rs1064796210
|
|
NM_004360.5(CDH1):c.634G>T (p.Gly212Ter)
|
|
|
NM_004360.5(CDH1):c.635G>T (p.Gly212Val)
|
rs1555515276
|
|
NM_004360.5(CDH1):c.637T>A (p.Trp213Arg)
|
rs1555515277
|
|
NM_004360.5(CDH1):c.638G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.638G>T (p.Trp213Leu)
|
rs1567504890
|
|
NM_004360.5(CDH1):c.639G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639del (p.Trp213fs)
|
|
|
NM_004360.5(CDH1):c.640del (p.Trp213_Leu214insTer)
|
|
|
NM_004360.5(CDH1):c.641T>C (p.Leu214Pro)
|
rs1960741733
|
|
NM_004360.5(CDH1):c.641T>G (p.Leu214Arg)
|
|
|
NM_004360.5(CDH1):c.641dup (p.Lys215fs)
|
|
|
NM_004360.5(CDH1):c.642G>A (p.Leu214=)
|
|
|
NM_004360.5(CDH1):c.645G>A (p.Lys215=)
|
rs2152130244
|
|
NM_004360.5(CDH1):c.648G>A (p.Val216=)
|
rs1597891175
|
|
NM_004360.5(CDH1):c.649A>G (p.Thr217Ala)
|
rs1567504901
|
|
NM_004360.5(CDH1):c.64_80del (p.Cys22fs)
|
|
|
NM_004360.5(CDH1):c.650C>T (p.Thr217Ile)
|
rs778382252
|
|
NM_004360.5(CDH1):c.651A>G (p.Thr217=)
|
rs2152130262
|
|
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.653_654del (p.Glu218fs)
|
|
|
NM_004360.5(CDH1):c.654G>A (p.Glu218=)
|
|
|
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.656del (p.Pro219fs)
|
rs1555515284
|
|
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.660G>A (p.Leu220=)
|
rs747484647
|
|
NM_004360.5(CDH1):c.669A>G (p.Glu223=)
|
rs2152130290
|
|
NM_004360.5(CDH1):c.66C>A (p.Cys22Ter)
|
rs865838543
|
|
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.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
NM_004360.5(CDH1):c.680C>T (p.Thr227Ile)
|
|
|
NM_004360.5(CDH1):c.683A>G (p.Tyr228Cys)
|
rs1597891240
|
|
NM_004360.5(CDH1):c.684C>T (p.Tyr228=)
|
rs1960744183
|
|
NM_004360.5(CDH1):c.687+11C>T
|
rs746109821
|
|
NM_004360.5(CDH1):c.687+15G>C
|
rs2152130342
|
|
NM_004360.5(CDH1):c.687+16A>G
|
rs912025920
|
|
NM_004360.5(CDH1):c.687+18G>A
|
rs544659881
|
|
NM_004360.5(CDH1):c.687+19C>T
|
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>T
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+21del
|
rs778134914
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
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+56del
|
rs771109236
|
|
NM_004360.5(CDH1):c.687+5G>A
|
rs786202423
|
|
NM_004360.5(CDH1):c.687+6T>C
|
|
|
NM_004360.5(CDH1):c.687+7A>G
|
rs2152130331
|
|
NM_004360.5(CDH1):c.687+9C>G
|
rs2152130336
|
|
NM_004360.5(CDH1):c.688-10G>A
|
rs1050660802
|
|
NM_004360.5(CDH1):c.688-11G>T
|
rs2152130974
|
|
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.688-15A>T
|
rs1555515410
|
|
NM_004360.5(CDH1):c.688-16C>A
|
|
|
NM_004360.5(CDH1):c.688-18C>G
|
rs1567505564
|
|
NM_004360.5(CDH1):c.688-18C>T
|
rs1567505564
|
|
NM_004360.5(CDH1):c.688-18del
|
rs1960778485
|
|
NM_004360.5(CDH1):c.688-1G>C
|
|
|
NM_004360.5(CDH1):c.688-20C>A
|
rs1064795881
|
|
NM_004360.5(CDH1):c.688-53C>G
|
|
|
NM_004360.5(CDH1):c.688-7C>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.690C>G (p.Leu230=)
|
rs863224397
|
|
NM_004360.5(CDH1):c.690C>T (p.Leu230=)
|
rs863224397
|
|
NM_004360.5(CDH1):c.692T>A (p.Phe231Tyr)
|
|
|
NM_004360.5(CDH1):c.693C>T (p.Phe231=)
|
|
|
NM_004360.5(CDH1):c.694T>A (p.Ser232Thr)
|
|
|
NM_004360.5(CDH1):c.695C>G (p.Ser232Cys)
|
rs1555515422
|
|
NM_004360.5(CDH1):c.696_697del (p.His233fs)
|
rs1060501214
|
|
NM_004360.5(CDH1):c.696_750del (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.698dup (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.699C>G (p.His233Gln)
|
rs115494727
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
NM_004360.5(CDH1):c.6C>T (p.Gly2=)
|
rs786201283
|
|
NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)
|
rs878854694
|
|
NM_004360.5(CDH1):c.702T>C (p.Ala234=)
|
rs1555515428
|
|
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.708A>C (p.Ser236=)
|
rs863224398
|
|
NM_004360.5(CDH1):c.708A>G (p.Ser236=)
|
rs863224398
|
|
NM_004360.5(CDH1):c.709T>G (p.Ser237Ala)
|
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
NM_004360.5(CDH1):c.710C>G (p.Ser237Cys)
|
rs1960780087
|
|
NM_004360.5(CDH1):c.711C>A (p.Ser237=)
|
rs1597892308
|
|
NM_004360.5(CDH1):c.711C>G (p.Ser237=)
|
|
|
NM_004360.5(CDH1):c.711C>T (p.Ser237=)
|
|
|
NM_004360.5(CDH1):c.713A>C (p.Asn238Thr)
|
|
|
NM_004360.5(CDH1):c.713A>G (p.Asn238Ser)
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.716G>A (p.Gly239Glu)
|
rs2152131027
|
|
NM_004360.5(CDH1):c.717G>A (p.Gly239=)
|
rs749491453
|
|
NM_004360.5(CDH1):c.717del (p.Asn240fs)
|
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
NM_004360.5(CDH1):c.720T>C (p.Asn240=)
|
rs2152131034
|
|
NM_004360.5(CDH1):c.720T>G (p.Asn240Lys)
|
rs2152131034
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.721G>A (p.Ala241Thr)
|
rs1555515434
|
|
NM_004360.5(CDH1):c.723A>T (p.Ala241=)
|
rs768781036
|
|
NM_004360.5(CDH1):c.726T>G (p.Val242=)
|
|
|
NM_004360.5(CDH1):c.734C>T (p.Pro245Leu)
|
|
|
NM_004360.5(CDH1):c.735A>C (p.Pro245=)
|
|
|
NM_004360.5(CDH1):c.736A>G (p.Met246Val)
|
rs1960781848
|
|
NM_004360.5(CDH1):c.737_760delinsGGGC (p.Met246fs)
|
|
|
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.750C>T (p.Ile250=)
|
rs1960782299
|
|
NM_004360.5(CDH1):c.751A>G (p.Thr251Ala)
|
|
|
NM_004360.5(CDH1):c.752C>T (p.Thr251Met)
|
rs1454205778
|
|
NM_004360.5(CDH1):c.753G>T (p.Thr251=)
|
rs371996897
|
|
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.759C>A (p.Thr253=)
|
rs372934565
|
|
NM_004360.5(CDH1):c.75G>A (p.Pro25=)
|
rs786202428
|
|
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn)
|
rs1555515445
|
|
NM_004360.5(CDH1):c.763C>T (p.Gln255Ter)
|
|
|
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.76G>T (p.Glu26Ter)
|
rs786201058
|
|
NM_004360.5(CDH1):c.770A>G (p.Asp257Gly)
|
rs1555515446
|
|
NM_004360.5(CDH1):c.771C>T (p.Asp257=)
|
rs2152131103
|
|
NM_004360.5(CDH1):c.771CAA[1] (p.Asn258del)
|
|
|
NM_004360.5(CDH1):c.772A>T (p.Asn258Tyr)
|
rs1555515449
|
|
NM_004360.5(CDH1):c.776del (p.Lys259fs)
|
|
|
NM_004360.5(CDH1):c.778C>T (p.Pro260Ser)
|
rs1567505715
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
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.786C>T (p.Phe262=)
|
rs876658994
|
|
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.789C>G (p.Thr263=)
|
rs1555515457
|
|
NM_004360.5(CDH1):c.789C>T (p.Thr263=)
|
rs1555515457
|
|
NM_004360.5(CDH1):c.78G>T (p.Glu26Asp)
|
|
|
NM_004360.5(CDH1):c.793G>A (p.Glu265Lys)
|
rs876659503
|
|
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)
|
rs876659503
|
|
NM_004360.5(CDH1):c.795G>A (p.Glu265=)
|
rs878854695
|
|
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.800_810del (p.Phe267fs)
|
rs1960785108
|
|
NM_004360.5(CDH1):c.806G>A (p.Gly269Glu)
|
|
|
NM_004360.5(CDH1):c.806G>C (p.Gly269Ala)
|
|
|
NM_004360.5(CDH1):c.807G>A (p.Gly269=)
|
|
|
NM_004360.5(CDH1):c.807dup (p.Ser270fs)
|
|
|
NM_004360.5(CDH1):c.80C>T (p.Pro27Leu)
|
rs1597838536
|
|
NM_004360.5(CDH1):c.811_812delinsTTAAGGGATATA (p.Val271fs)
|
|
|
NM_004360.5(CDH1):c.812_833-564del
|
rs1960785868
|
|
NM_004360.5(CDH1):c.813C>G (p.Val271=)
|
rs1300078492
|
|
NM_004360.5(CDH1):c.815T>C (p.Met272Thr)
|
rs1567505776
|
|
NM_004360.5(CDH1):c.817G>T (p.Glu273Ter)
|
|
|
NM_004360.5(CDH1):c.819A>G (p.Glu273=)
|
rs1555515468
|
|
NM_004360.5(CDH1):c.81C>G (p.Pro27=)
|
rs1962457719
|
|
NM_004360.5(CDH1):c.81del (p.Cys28fs)
|
|
|
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.828T>C (p.Leu276=)
|
rs2152131206
|
|
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.82del (p.Cys28fs)
|
rs1962457888
|
|
NM_004360.5(CDH1):c.830del (p.Pro277fs)
|
|
|
NM_004360.5(CDH1):c.832+17G>A
|
rs373179391
|
|
NM_004360.5(CDH1):c.832+18A>T
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+4T>C
|
rs1555515470
|
|
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.832+7C>G
|
rs1060504169
|
|
NM_004360.5(CDH1):c.832+9A>C
|
|
|
NM_004360.5(CDH1):c.832+9A>G
|
rs1057521268
|
|
NM_004360.5(CDH1):c.832G>A (p.Gly278Arg)
|
rs943875725
|
|
NM_004360.5(CDH1):c.833-10A>G
|
rs1168685891
|
|
NM_004360.5(CDH1):c.833-13T>C
|
|
|
NM_004360.5(CDH1):c.833-14T>C
|
|
|
NM_004360.5(CDH1):c.833-15C>G
|
rs2152131854
|
|
NM_004360.5(CDH1):c.833-15del
|
|
|
NM_004360.5(CDH1):c.833-17T>C
|
rs1057520572
|
|
NM_004360.5(CDH1):c.833-18C>G
|
rs1960832962
|
|
NM_004360.5(CDH1):c.833-19T>G
|
|
|
NM_004360.5(CDH1):c.833-20A>G
|
rs1057521024
|
|
NM_004360.5(CDH1):c.833-2A>C
|
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004360.5(CDH1):c.833-476_1138-463del
|
|
|
NM_004360.5(CDH1):c.833-4C>A
|
rs1960833702
|
|
NM_004360.5(CDH1):c.833-4C>T
|
rs1960833702
|
|
NM_004360.5(CDH1):c.833-6T>C
|
rs1399679461
|
|
NM_004360.5(CDH1):c.833-8_836del
|
rs1567506511
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
NM_004360.5(CDH1):c.833-9C>T
|
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.837C>T (p.Thr279=)
|
rs1364692858
|
|
NM_004360.5(CDH1):c.83G>A (p.Cys28Tyr)
|
|
|
NM_004360.5(CDH1):c.840T>A (p.Ser280=)
|
rs2152131883
|
|
NM_004360.5(CDH1):c.841_844del (p.Val281fs)
|
|
|
NM_004360.5(CDH1):c.843G>C (p.Val281=)
|
rs1131690814
|
|
NM_004360.5(CDH1):c.843G>T (p.Val281=)
|
rs1131690814
|
|
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
|
|
|
NM_004360.5(CDH1):c.845T>A (p.Met282Lys)
|
rs730881652
|
|
NM_004360.5(CDH1):c.846_847delinsTT (p.Met282_Glu283delinsIleTer)
|
|
|
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.84C>A (p.Cys28Ter)
|
|
|
NM_004360.5(CDH1):c.850G>A (p.Val284Ile)
|
rs786202364
|
|
NM_004360.5(CDH1):c.853A>C (p.Thr285Pro)
|
|
|
NM_004360.5(CDH1):c.854_855del (p.Thr285fs)
|
|
|
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.861A>G (p.Thr287=)
|
rs1597893981
|
|
NM_004360.5(CDH1):c.864C>G (p.Asp288Glu)
|
|
|
NM_004360.5(CDH1):c.864C>T (p.Asp288=)
|
rs1057520804
|
|
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.86dup (p.His29fs)
|
|
|
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.873T>C (p.Asp291=)
|
rs786202039
|
|
NM_004360.5(CDH1):c.874G>A (p.Asp292Asn)
|
rs1597894017
|
|
NM_004360.5(CDH1):c.876T>C (p.Asp292=)
|
rs1055713249
|
|
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.878dup (p.Asn294fs)
|
|
|
NM_004360.5(CDH1):c.87C>A (p.His29Gln)
|
rs1555509762
|
|
NM_004360.5(CDH1):c.87C>G (p.His29Gln)
|
|
|
NM_004360.5(CDH1):c.87C>T (p.His29=)
|
rs1555509762
|
|
NM_004360.5(CDH1):c.882C>T (p.Asn294=)
|
rs1960836782
|
|
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.885C>G (p.Thr295=)
|
rs1555515612
|
|
NM_004360.5(CDH1):c.885C>T (p.Thr295=)
|
rs1555515612
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)
|
rs895188181
|
|
NM_004360.5(CDH1):c.888C>G (p.Tyr296Ter)
|
|
|
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.894C>A (p.Ala298=)
|
rs139110184
|
|
NM_004360.5(CDH1):c.896C>T (p.Ala299Val)
|
rs745807727
|
|
NM_004360.5(CDH1):c.897C>G (p.Ala299=)
|
|
|
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.903T>C (p.Ala301=)
|
|
|
NM_004360.5(CDH1):c.903T>G (p.Ala301=)
|
|
|
NM_004360.5(CDH1):c.905A>G (p.Tyr302Cys)
|
rs768467134
|
|
NM_004360.5(CDH1):c.907A>G (p.Thr303Ala)
|
rs876660744
|
|
NM_004360.5(CDH1):c.907A>T (p.Thr303Ser)
|
rs876660744
|
|
NM_004360.5(CDH1):c.907del (p.Thr303fs)
|
rs2152131991
|
|
NM_004360.5(CDH1):c.908C>T (p.Thr303Ile)
|
|
|
NM_004360.5(CDH1):c.909C>T (p.Thr303=)
|
rs786202408
|
|
NM_004360.5(CDH1):c.90T>A (p.Pro30=)
|
|
|
NM_004360.5(CDH1):c.90T>C (p.Pro30=)
|
rs1555509766
|
|
NM_004360.5(CDH1):c.90T>G (p.Pro30=)
|
rs1555509766
|
|
NM_004360.5(CDH1):c.910A>G (p.Ile304Val)
|
rs1597894113
|
|
NM_004360.5(CDH1):c.912C>T (p.Ile304=)
|
|
|
NM_004360.5(CDH1):c.914T>A (p.Leu305His)
|
rs1960838832
|
|
NM_004360.5(CDH1):c.915C>T (p.Leu305=)
|
rs1057522178
|
|
NM_004360.5(CDH1):c.916A>G (p.Ser306Gly)
|
rs1555515624
|
|
NM_004360.5(CDH1):c.919C>T (p.Gln307Ter)
|
|
|
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.921A>G (p.Gln307=)
|
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.927T>C (p.Pro309=)
|
rs1597894149
|
|
NM_004360.5(CDH1):c.927T>G (p.Pro309=)
|
rs1597894149
|
|
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.933C>T (p.Leu311=)
|
rs35539711
|
|
NM_004360.5(CDH1):c.935C>T (p.Pro312Leu)
|
|
|
NM_004360.5(CDH1):c.935del (p.Pro312fs)
|
rs2152132050
|
|
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.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
NM_004360.5(CDH1):c.941A>T (p.Lys314Ile)
|
rs1960840529
|
|
NM_004360.5(CDH1):c.943_944del (p.Asn315fs)
|
rs2152132067
|
|
NM_004360.5(CDH1):c.943_946del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.944A>C (p.Asn315Thr)
|
rs1960840611
|
|
NM_004360.5(CDH1):c.944del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.945T>C (p.Asn315=)
|
rs2152132072
|
|
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.954C>T (p.Thr318=)
|
rs1597894198
|
|
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.960C>T (p.Asn320=)
|
rs1555515647
|
|
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.966C>T (p.Asn322=)
|
rs1555515654
|
|
NM_004360.5(CDH1):c.968C>T (p.Thr323Ile)
|
rs1487750656
|
|
NM_004360.5(CDH1):c.968del (p.Thr323fs)
|
|
|
NM_004360.5(CDH1):c.969A>G (p.Thr323=)
|
rs1567506753
|
|
NM_004360.5(CDH1):c.970G>T (p.Gly324Ter)
|
|
|
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.971del (p.Gly324fs)
|
|
|
NM_004360.5(CDH1):c.972A>C (p.Gly324=)
|
|
|
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.975C>G (p.Val325=)
|
rs1597894252
|
|
NM_004360.5(CDH1):c.976A>G (p.Ile326Val)
|
rs1567506764
|
|
NM_004360.5(CDH1):c.977T>A (p.Ile326Asn)
|
|
|
NM_004360.5(CDH1):c.978C>A (p.Ile326=)
|
|
|
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.984G>A (p.Val328=)
|
rs1960843053
|
|
NM_004360.5(CDH1):c.985G>T (p.Val329Phe)
|
rs1597894279
|
|
NM_004360.5(CDH1):c.988dup (p.Thr330fs)
|
rs2152132139
|
|
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.990C>G (p.Thr330=)
|
rs786203728
|
|
NM_004360.5(CDH1):c.990C>T (p.Thr330=)
|
rs786203728
|
|
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.993T>G (p.Thr331=)
|
rs1597894299
|
|
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_004360.5(CDH1):c.996G>A (p.Gly332=)
|
rs876658414
|
|
NM_004360.5(CDH1):c.996G>C (p.Gly332=)
|
rs876658414
|
|
NM_004360.5(CDH1):c.9T>C (p.Pro3=)
|
rs935070259
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln)
|
rs1057519862
|
|
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met)
|
rs1057519890
|
|
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)
|
rs121913469
|
|
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser)
|
rs121913470
|
|
NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp)
|
rs121913470
|
|
NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr)
|
rs121913468
|
|
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)
|
rs397516975
|
|
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser)
|
rs28933369
|
|
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup)
|
rs587776805
|
|
NM_004448.4(ERBB2):c.2329G>A (p.Val777Met)
|
rs121913471
|
|
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu)
|
rs121913471
|
|
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile)
|
rs1057519738
|
|
NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg)
|
rs1131692237
|
|
NM_004448.4(ERBB2):c.926G>A (p.Gly309Glu)
|
rs1057519787
|
|
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr)
|
rs1057519816
|
|
NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe)
|
rs1057519816
|
|
NM_004465.2(FGF10):c.*1093A>G
|
|
|
NM_004465.2(FGF10):c.*723C>A
|
|
|
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)
|
rs71369530
|
|
NM_004491.5(ARHGAP35):c.1959_1960delinsAA (p.Pro654Thr)
|
rs869312173
|
|
NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu)
|
rs869025229
|
|
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp)
|
rs567511335
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg)
|
rs869025235
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)
|
rs1057519779
|
|
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)
|
rs1057519914
|
|
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)
|
rs786205165
|
|
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
|
rs786205165
|
|
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp)
|
rs1057519913
|
|
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)
|
rs1057519917
|
|
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
|
rs587777894
|
|
NM_004958.4(MTOR):c.6667C>A (p.Gln2223Lys)
|
rs1057519778
|
|
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)
|
rs1057519916
|
|
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)
|
rs1057519915
|
|
NM_004958.4(MTOR):c.7514G>C (p.Arg2505Pro)
|
rs1057519777
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
rs121913240
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
NM_004985.5(KRAS):c.445A>T (p.Arg149Ter)
|
rs2141505552
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp)
|
rs1057519801
|
|
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val)
|
rs1057519912
|
|
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe)
|
rs1057519912
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
NM_005228.5(EGFR):c.1661A>G (p.Glu554Gly)
|
rs779741928
|
|
NM_005228.5(EGFR):c.2068G>A (p.Glu690Lys)
|
rs1057519794
|
|
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)
|
rs28929495
|
|
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)
|
rs121913428
|
|
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)
|
rs121913428
|
|
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)
|
rs121913421
|
|
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)
|
rs121913229
|
|
NM_005228.5(EGFR):c.2309_2310insGTC (p.Asp770delinsGluSer)
|
rs1554350382
|
|
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)
|
rs121434568
|
|
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)
|
rs121913444
|
|
NM_005228.5(EGFR):c.88+24313G>C
|
|
|
NM_005343.4(HRAS):c.179G>T (p.Gly60Val)
|
rs730880460
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)
|
rs28933406
|
|
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)
|
rs121913233
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
NM_005343.4(HRAS):c.183G>T (p.Gln61His)
|
rs121913496
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)
|
rs104894226
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)
|
rs104894231
|
|
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)
|
rs104894231
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser)
|
rs1057519962
|
|
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys)
|
rs1057519962
|
|
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)
|
rs1057519919
|
|
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)
|
rs1057519956
|
|
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)
|
rs1057519957
|
|
NM_005591.4(MRE11):c.668A>G (p.His223Arg)
|
|
|
NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn)
|
rs1057519949
|
|
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)
|
rs1057519950
|
|
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)
|
rs1057519963
|
|
NM_005648.4(ELOC):c.235T>A (p.Tyr79Asn)
|
rs1057519974
|
|
NM_005648.4(ELOC):c.236A>C (p.Tyr79Ser)
|
rs1057519973
|
|
NM_005648.4(ELOC):c.236A>T (p.Tyr79Phe)
|
rs1057519973
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2046del (p.Val683fs)
|
|
|
NM_005732.4(RAD50):c.2524+1_2524+9del
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_005973.5(PRCC):c.722C>T (p.Ser241Leu)
|
|
|
NM_005996.4(TBX3):c.1432_1433del (p.Leu478fs)
|
|
|
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)
|
rs1553153748
|
|
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)
|
rs1057519922
|
|
NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln)
|
rs1057519922
|
|
NM_006164.5(NFE2L2):c.236A>T (p.Glu79Val)
|
rs1057519923
|
|
NM_006164.5(NFE2L2):c.237G>T (p.Glu79Asp)
|
rs1057519924
|
|
NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr)
|
rs1057519920
|
|
NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly)
|
rs1057519921
|
|
NM_006182.4(DDR2):c.1294-109C>T
|
|
|
NM_006182.4(DDR2):c.1728+293A>G
|
|
|
NM_006182.4(DDR2):c.2434-59G>A
|
|
|
NM_006183.5(NTS):c.185G>A (p.Cys62Tyr)
|
rs869025243
|
|
NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter)
|
rs1085307084
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)
|
rs749415085
|
|
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)
|
rs772110575
|
|
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)
|
rs772110575
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)
|
rs1057519926
|
|
NM_006218.4(PIK3CA):c.1412C>T (p.Pro471Leu)
|
rs1057519872
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)
|
rs1057519940
|
|
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
|
rs2108413471
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)
|
rs1057519928
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)
|
rs1057519933
|
|
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)
|
rs1057519935
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
NM_006231.4(POLE):c.1231G>T (p.Val411Leu)
|
rs1057519945
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
NM_006231.4(POLE):c.856C>T (p.Pro286Ser)
|
rs1057519944
|
|
NM_006231.4(POLE):c.857C>A (p.Pro286His)
|
rs1057519943
|
|
NM_006231.4(POLE):c.857C>G (p.Pro286Arg)
|
rs1057519943
|
|
NM_006269.2(RP1):c.5001del (p.Arg1668fs)
|
rs869320622
|
|
NM_006368.5(CREB3):c.823T>G (p.Tyr275Asp)
|
rs869025236
|
|
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe)
|
rs371769427
|
|
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)
|
rs1057519959
|
|
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
NM_006982.3(ALX1):c.791G>T (p.Gly264Val)
|
|
|
NM_007294.4(BRCA1):c.1431A>G (p.Val477=)
|
rs2154446463
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)
|
rs754688962
|
|
NM_013247.5(HTRA2):c.695T>A (p.Leu232Gln)
|
rs869025234
|
|
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
|
|
|
NM_014215.3(INSRR):c.3397+4del
|
rs1451820799
|
|
NM_014215.3(INSRR):c.3397+9G>A
|
rs1322273300
|
|
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly)
|
rs1057519946
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_014491.4(FOXP2):c.1164G>T (p.Val388=)
|
|
|
NM_014491.4(FOXP2):c.2003+1336G>C
|
|
|
NM_014491.4(FOXP2):c.2003+4074C>A
|
|
|
NM_014883.4(FAM13A):c.1459-515_1459-514inv
|
|
|
NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)
|
rs869312174
|
|
NM_015428.4(ZNF473):c.2359A>T (p.Arg787Ter)
|
rs869025232
|
|
NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr)
|
rs869025231
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
|
|
|
NM_015965.7(NDUFA13):c.94+1G>A
|
|
|
NM_016507.4(CDK12):c.2636G>T (p.Gly879Val)
|
rs1131692238
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*1615A>C
|
rs1171230486
|
|
NM_019040.5(ELP4):c.*1626G>A
|
rs1269133831
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
NM_019040.5(ELP4):c.*2041C>G
|
rs544117348
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
NM_019040.5(ELP4):c.*2522G>T
|
rs1948594512
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*2992G>A
|
rs1948639449
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_019040.5(ELP4):c.*3588A>G
|
rs906435505
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_019040.5(ELP4):c.*3706T>A
|
rs1948715280
|
|
NM_019040.5(ELP4):c.*3715T>A
|
rs558836571
|
|
NM_019040.5(ELP4):c.*3772G>C
|
rs865924000
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
NM_019040.5(ELP4):c.*4056G>A
|
rs1948752515
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
NM_019040.5(ELP4):c.*4542G>T
|
rs1948792866
|
|
NM_019040.5(ELP4):c.1023T>G (p.Tyr341Ter)
|
rs1945237259
|
|
NM_020297.4(ABCC9):c.2663G>T (p.Gly888Val)
|
rs869025242
|
|
NM_020348.3(CNNM1):c.957G>C (p.Glu319Asp)
|
rs869025226
|
|
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)
|
rs2035064004
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
NM_020893.6(CCDC180):c.1843C>G (p.Pro615Ala)
|
rs869025225
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_020975.4(RET):c.[2410G>A;2832C>G]
|
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
NM_020975.6(RET):c.1232C>G (p.Ser411Cys)
|
rs2132746693
|
|
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.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1311C>T (p.Asn437=)
|
rs1190189942
|
|
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.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)
|
rs377767434
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1617C>A (p.Gly539=)
|
rs1554818648
|
|
NM_020975.6(RET):c.1648+14A>G
|
rs1356301733
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del)
|
rs121913313
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.186G>A (p.Glu62=)
|
rs1588862529
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
NM_020975.6(RET):c.1892A>G (p.Asp631Gly)
|
rs121913308
|
|
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del)
|
rs121913312
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1921G>C (p.Ala641Pro)
|
rs377767411
|
|
NM_020975.6(RET):c.1942G>T (p.Val648Phe)
|
rs77711105
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2089C>T (p.Leu697=)
|
rs1588874416
|
|
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.2262G>A (p.Thr754=)
|
rs779080598
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2330A>G (p.Asn777Ser)
|
rs377767415
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2393-5C>T
|
rs1554819512
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2433C>T (p.Ser811=)
|
rs1290818295
|
|
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.2487T>C (p.Ser829=)
|
rs2132946081
|
|
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.2535C>T (p.Ala845=)
|
rs377767425
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del)
|
rs121913309
|
|
NM_020975.6(RET):c.2700T>C (p.Tyr900=)
|
rs1185622721
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2985G>A (p.Arg995=)
|
rs1252674267
|
|
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.31C>T (p.Leu11=)
|
rs587780812
|
|
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.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
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.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.810C>A (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.868-18G>T
|
rs57098408
|
|
NM_020975.6(RET):c.921A>G (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val)
|
rs151055286
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)
|
rs147001633
|
|
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)
|
rs1057519899
|
|
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)
|
rs1057519898
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)
|
rs1057519897
|
|
NM_024529.5(CDC73):c.*1056A>C
|
rs548106852
|
|
NM_024529.5(CDC73):c.*1075A>G
|
rs886045719
|
|
NM_024529.5(CDC73):c.*1144del
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1144dup
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1296C>G
|
rs1269411417
|
|
NM_024529.5(CDC73):c.*1303A>G
|
rs886045723
|
|
NM_024529.5(CDC73):c.*1442C>T
|
rs1678053550
|
|
NM_024529.5(CDC73):c.*1821G>T
|
rs1678060916
|
|
NM_024529.5(CDC73):c.*1858C>G
|
rs886045724
|
|
NM_024529.5(CDC73):c.*1956T>C
|
rs886045725
|
|
NM_024529.5(CDC73):c.*2043A>T
|
rs886045727
|
|
NM_024529.5(CDC73):c.*2131A>T
|
rs886045728
|
|
NM_024529.5(CDC73):c.*244T>A
|
rs1678034707
|
|
NM_024529.5(CDC73):c.*2639C>G
|
rs1361287206
|
|
NM_024529.5(CDC73):c.*3086C>T
|
rs886045733
|
|
NM_024529.5(CDC73):c.*3257A>G
|
rs886045734
|
|
NM_024529.5(CDC73):c.*3409_*3410del
|
rs886045735
|
|
NM_024529.5(CDC73):c.*3542A>G
|
rs886045736
|
|
NM_024529.5(CDC73):c.*3641G>A
|
rs565579791
|
|
NM_024529.5(CDC73):c.*3695C>G
|
rs1678098304
|
|
NM_024529.5(CDC73):c.*3786T>A
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3786T>C
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3808TTG[1]
|
rs143131672
|
|
NM_024529.5(CDC73):c.*3887G>T
|
rs1678101144
|
|
NM_024529.5(CDC73):c.*937G>A
|
rs886045715
|
|
NM_024529.5(CDC73):c.*94A>G
|
rs547969893
|
|
NM_024529.5(CDC73):c.*956T>C
|
rs886045716
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)
|
rs1677132309
|
|
NM_024529.5(CDC73):c.1003C>A (p.Pro335Thr)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg)
|
rs1476163101
|
|
NM_024529.5(CDC73):c.1004C>T (p.Pro335Leu)
|
|
|
NM_024529.5(CDC73):c.1005T>A (p.Pro335=)
|
rs2103178081
|
|
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser)
|
rs2103178083
|
|
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
|
|
|
NM_024529.5(CDC73):c.100A>C (p.Lys34Gln)
|
|
|
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)
|
rs2103178097
|
|
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro)
|
rs993696396
|
|
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
|
|
|
NM_024529.5(CDC73):c.1016C>A (p.Pro339Gln)
|
|
|
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg)
|
rs1060500018
|
|
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu)
|
rs1060500018
|
|
NM_024529.5(CDC73):c.1017A>G (p.Pro339=)
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
NM_024529.5(CDC73):c.1020A>G (p.Val340=)
|
|
|
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
|
|
|
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser)
|
rs1572196474
|
|
NM_024529.5(CDC73):c.1023A>G (p.Pro341=)
|
rs2103178122
|
|
NM_024529.5(CDC73):c.1026A>G (p.Arg342=)
|
rs770903733
|
|
NM_024529.5(CDC73):c.102G>A (p.Lys34=)
|
|
|
NM_024529.5(CDC73):c.102G>C (p.Lys34Asn)
|
|
|
NM_024529.5(CDC73):c.1030+10_1030+11del
|
|
|
NM_024529.5(CDC73):c.1030+12G>A
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+12G>T
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+14A>C
|
|
|
NM_024529.5(CDC73):c.1030+14A>T
|
|
|
NM_024529.5(CDC73):c.1030+19G>A
|
|
|
NM_024529.5(CDC73):c.1030+19del
|
rs2103178144
|
|
NM_024529.5(CDC73):c.1030+2T>C
|
|
|
NM_024529.5(CDC73):c.1030+4G>T
|
|
|
NM_024529.5(CDC73):c.1030+7A>C
|
|
|
NM_024529.5(CDC73):c.1030+8T>G
|
rs1035535558
|
|
NM_024529.5(CDC73):c.1030+9A>G
|
|
|
NM_024529.5(CDC73):c.1030+9_1030+10insC
|
rs2103178136
|
|
NM_024529.5(CDC73):c.1031-10T>A
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-10T>G
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-11_1031-10del
|
|
|
NM_024529.5(CDC73):c.1031-12del
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-12dup
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-19T>C
|
|
|
NM_024529.5(CDC73):c.1031-7T>C
|
rs781077021
|
|
NM_024529.5(CDC73):c.1032T>C (p.Val344=)
|
rs148612206
|
|
NM_024529.5(CDC73):c.1038A>G (p.Gln346=)
|
|
|
NM_024529.5(CDC73):c.1038A>T (p.Gln346His)
|
rs2102038062
|
|
NM_024529.5(CDC73):c.1039G>T (p.Ala347Ser)
|
rs1553288361
|
|
NM_024529.5(CDC73):c.1040C>T (p.Ala347Val)
|
rs1677289364
|
|
NM_024529.5(CDC73):c.1041A>G (p.Ala347=)
|
rs2102038069
|
|
NM_024529.5(CDC73):c.1045C>A (p.Pro349Thr)
|
|
|
NM_024529.5(CDC73):c.1048C>T (p.Pro350Ser)
|
rs773264613
|
|
NM_024529.5(CDC73):c.1049C>T (p.Pro350Leu)
|
rs2102038095
|
|
NM_024529.5(CDC73):c.104A>G (p.Asn35Ser)
|
|
|
NM_024529.5(CDC73):c.1052C>T (p.Pro351Leu)
|
rs1677289653
|
|
NM_024529.5(CDC73):c.1052del (p.Pro351fs)
|
rs1553288362
|
|
NM_024529.5(CDC73):c.1054A>C (p.Asn352His)
|
rs1677289702
|
|
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
|
|
|
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser)
|
rs1677289748
|
|
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
|
|
|
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn)
|
rs1677289784
|
|
NM_024529.5(CDC73):c.1066+11G>A
|
|
|
NM_024529.5(CDC73):c.1066+13A>C
|
|
|
NM_024529.5(CDC73):c.1066+19T>C
|
|
|
NM_024529.5(CDC73):c.1066+3G>A
|
rs2102038126
|
|
NM_024529.5(CDC73):c.1066+6G>T
|
rs1677289869
|
|
NM_024529.5(CDC73):c.1066+9G>A
|
rs2102038137
|
|
NM_024529.5(CDC73):c.1067-18T>A
|
|
|
NM_024529.5(CDC73):c.1067-2_1069del
|
rs2102038469
|
|
NM_024529.5(CDC73):c.1067-3T>A
|
rs1572202351
|
|
NM_024529.5(CDC73):c.1067-8C>G
|
rs780485546
|
|
NM_024529.5(CDC73):c.1067-9T>A
|
rs1253333879
|
|
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val)
|
rs2102038477
|
|
NM_024529.5(CDC73):c.1069T>C (p.Ser357Pro)
|
|
|
NM_024529.5(CDC73):c.1070C>G (p.Ser357Cys)
|
rs2102038479
|
|
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala)
|
rs1060500010
|
|
NM_024529.5(CDC73):c.1077A>G (p.Thr359=)
|
rs746991059
|
|
NM_024529.5(CDC73):c.1077A>T (p.Thr359=)
|
rs746991059
|
|
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser)
|
rs770734388
|
|
NM_024529.5(CDC73):c.1079C>G (p.Pro360Arg)
|
|
|
NM_024529.5(CDC73):c.1079C>T (p.Pro360Leu)
|
rs1677295002
|
|
NM_024529.5(CDC73):c.1080C>T (p.Pro360=)
|
rs1211967086
|
|
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val)
|
rs2102038517
|
|
NM_024529.5(CDC73):c.1092T>A (p.Ile364=)
|
|
|
NM_024529.5(CDC73):c.1095T>A (p.Pro365=)
|
|
|
NM_024529.5(CDC73):c.1096G>A (p.Ala366Thr)
|
rs2102038531
|
|
NM_024529.5(CDC73):c.1098A>G (p.Ala366=)
|
rs775127570
|
|
NM_024529.5(CDC73):c.10G>C (p.Val4Leu)
|
rs1675463101
|
|
NM_024529.5(CDC73):c.10del (p.Val4fs)
|
rs2103111548
|
|
NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)
|
|
|
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
|
|
|
NM_024529.5(CDC73):c.1102A>T (p.Thr368Ser)
|
rs1358233620
|
|
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)
|
rs2102038553
|
|
NM_024529.5(CDC73):c.1104C>T (p.Thr368=)
|
rs2102038555
|
|
NM_024529.5(CDC73):c.110A>G (p.Lys37Arg)
|
rs890428520
|
|
NM_024529.5(CDC73):c.1112T>C (p.Leu371Ser)
|
rs2102038560
|
|
NM_024529.5(CDC73):c.1114A>C (p.Ile372Leu)
|
|
|
NM_024529.5(CDC73):c.1119C>T (p.Thr373=)
|
rs1015188625
|
|
NM_024529.5(CDC73):c.111G>C (p.Lys37Asn)
|
rs1355286253
|
|
NM_024529.5(CDC73):c.1120A>G (p.Met374Val)
|
rs2102038567
|
|
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr)
|
rs1677295843
|
|
NM_024529.5(CDC73):c.1129G>C (p.Ala377Pro)
|
|
|
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
|
|
|
NM_024529.5(CDC73):c.1131A>T (p.Ala377=)
|
|
|
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu)
|
rs1677295923
|
|
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
|
|
|
NM_024529.5(CDC73):c.1143A>G (p.Leu381=)
|
rs1384414870
|
|
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
|
|
|
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
|
|
|
NM_024529.5(CDC73):c.114C>T (p.Thr38=)
|
|
|
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val)
|
rs377215814
|
|
NM_024529.5(CDC73):c.1154+13T>C
|
|
|
NM_024529.5(CDC73):c.1154+14T>C
|
rs2102038628
|
|
NM_024529.5(CDC73):c.1154+19T>G
|
rs2102038640
|
|
NM_024529.5(CDC73):c.1154+7A>C
|
|
|
NM_024529.5(CDC73):c.1154+7A>G
|
|
|
NM_024529.5(CDC73):c.1154+8A>G
|
rs2102038618
|
|
NM_024529.5(CDC73):c.1154+9T>G
|
|
|
NM_024529.5(CDC73):c.1155-10T>G
|
|
|
NM_024529.5(CDC73):c.1155-12G>A
|
rs2102058222
|
|
NM_024529.5(CDC73):c.1155-12G>C
|
|
|
NM_024529.5(CDC73):c.1155-14C>G
|
|
|
NM_024529.5(CDC73):c.1155-14C>T
|
rs377158112
|
|
NM_024529.5(CDC73):c.1155-14_1155-13del
|
|
|
NM_024529.5(CDC73):c.1155-17T>G
|
|
|
NM_024529.5(CDC73):c.1155-19C>T
|
|
|
NM_024529.5(CDC73):c.1155-3A>G
|
rs1060500014
|
|
NM_024529.5(CDC73):c.1155-5C>T
|
|
|
NM_024529.5(CDC73):c.1155-6dup
|
|
|
NM_024529.5(CDC73):c.1155-8T>C
|
rs2102058227
|
|
NM_024529.5(CDC73):c.1155A>G (p.Lys385=)
|
rs1572215260
|
|
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
|
|
|
NM_024529.5(CDC73):c.1161C>T (p.Val387=)
|
rs1572215263
|
|
NM_024529.5(CDC73):c.1162C>G (p.Pro388Ala)
|
rs1470371131
|
|
NM_024529.5(CDC73):c.1162C>T (p.Pro388Ser)
|
|
|
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu)
|
rs2102058240
|
|
NM_024529.5(CDC73):c.1164A>G (p.Pro388=)
|
rs1572215267
|
|
NM_024529.5(CDC73):c.1165T>A (p.Ser389Thr)
|
rs1677687458
|
|
NM_024529.5(CDC73):c.1168G>C (p.Asp390His)
|
rs1677687568
|
|
NM_024529.5(CDC73):c.1171G>A (p.Glu391Lys)
|
rs2102058252
|
|
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
|
|
|
NM_024529.5(CDC73):c.1176G>A (p.Lys392=)
|
rs767993995
|
|
NM_024529.5(CDC73):c.1176G>C (p.Lys392Asn)
|
rs767993995
|
|
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del)
|
rs1677687636
|
|
NM_024529.5(CDC73):c.1182A>G (p.Lys394=)
|
rs2102058268
|
|
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu)
|
rs374856513
|
|
NM_024529.5(CDC73):c.1186G>A (p.Gly396Ser)
|
rs866793539
|
|
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
|
|
|
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
|
|
|
NM_024529.5(CDC73):c.1188T>C (p.Gly396=)
|
rs1205766785
|
|
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
|
|
|
NM_024529.5(CDC73):c.1193A>G (p.Gln398Arg)
|
rs878855088
|
|
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu)
|
rs878855088
|
|
NM_024529.5(CDC73):c.1195C>G (p.Arg399Gly)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
|
|
|
NM_024529.5(CDC73):c.119A>G (p.Tyr40Cys)
|
rs1019931450
|
|
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
|
|
|
NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)
|
|
|
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile)
|
rs1677688538
|
|
NM_024529.5(CDC73):c.1212A>G (p.Leu404=)
|
rs552978336
|
|
NM_024529.5(CDC73):c.121G>C (p.Val41Leu)
|
|
|
NM_024529.5(CDC73):c.121GTT[1] (p.Val42del)
|
rs2103111771
|
|
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys)
|
rs1572215316
|
|
NM_024529.5(CDC73):c.1222A>G (p.Arg408Gly)
|
rs1677688718
|
|
NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)
|
|
|
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro)
|
rs1242516197
|
|
NM_024529.5(CDC73):c.1233G>A (p.Gln411=)
|
|
|
NM_024529.5(CDC73):c.1234A>C (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
|
|
|
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu)
|
rs1553291031
|
|
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
|
|
|
NM_024529.5(CDC73):c.1239A>G (p.Gln413=)
|
rs1677689666
|
|
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser)
|
rs1297552782
|
|
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
|
|
|
NM_024529.5(CDC73):c.1246G>C (p.Gly416Arg)
|
rs2102058377
|
|
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala)
|
rs1553291033
|
|
NM_024529.5(CDC73):c.1247del (p.Gly416fs)
|
rs1572215344
|
|
NM_024529.5(CDC73):c.1248C>G (p.Gly416=)
|
|
|
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.1251T>C (p.Thr417=)
|
|
|
NM_024529.5(CDC73):c.1252G>A (p.Ala418Thr)
|
|
|
NM_024529.5(CDC73):c.1257T>C (p.Ile419=)
|
|
|
NM_024529.5(CDC73):c.1266A>G (p.Thr422=)
|
rs1553291034
|
|
NM_024529.5(CDC73):c.1269A>T (p.Val423=)
|
rs745826358
|
|
NM_024529.5(CDC73):c.126T>C (p.Val42=)
|
rs1675466558
|
|
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys)
|
rs1677690233
|
|
NM_024529.5(CDC73):c.1275T>C (p.Tyr425=)
|
|
|
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly)
|
rs2102058411
|
|
NM_024529.5(CDC73):c.1278A>G (p.Arg426=)
|
rs1677690277
|
|
NM_024529.5(CDC73):c.1279G>A (p.Val427Ile)
|
rs2102058420
|
|
NM_024529.5(CDC73):c.1282G>A (p.Val428Ile)
|
|
|
NM_024529.5(CDC73):c.1283T>C (p.Val428Ala)
|
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
NM_024529.5(CDC73):c.1290G>A (p.Gln430=)
|
rs1336120271
|
|
NM_024529.5(CDC73):c.1293C>A (p.Pro431=)
|
|
|
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe)
|
rs2102058450
|
|
NM_024529.5(CDC73):c.1296T>G (p.Leu432=)
|
rs2102058457
|
|
NM_024529.5(CDC73):c.12G>C (p.Val4=)
|
rs2103111556
|
|
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)
|
rs1558276082
|
|
NM_024529.5(CDC73):c.1302T>C (p.Leu434=)
|
|
|
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
|
|
|
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg)
|
rs1344996460
|
|
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu)
|
rs1344996460
|
|
NM_024529.5(CDC73):c.1308T>G (p.Pro436=)
|
rs991835494
|
|
NM_024529.5(CDC73):c.131+11_131+12delinsAC
|
|
|
NM_024529.5(CDC73):c.131+13T>C
|
|
|
NM_024529.5(CDC73):c.131+15G>T
|
|
|
NM_024529.5(CDC73):c.131+16C>A
|
|
|
NM_024529.5(CDC73):c.131+16C>T
|
|
|
NM_024529.5(CDC73):c.131+17dup
|
rs2103111814
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1G>T
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+7C>T
|
rs1572139906
|
|
NM_024529.5(CDC73):c.131+8C>A
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>G
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>T
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+9G>T
|
rs780780877
|
|
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu)
|
rs2102058489
|
|
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
|
|
|
NM_024529.5(CDC73):c.1314C>T (p.Asp438=)
|
|
|
NM_024529.5(CDC73):c.1316+11C>G
|
|
|
NM_024529.5(CDC73):c.1316+11C>T
|
rs917463973
|
|
NM_024529.5(CDC73):c.1316+13C>A
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+13C>G
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+14T>C
|
|
|
NM_024529.5(CDC73):c.1316+14TA[6]
|
rs747940099
|
|
NM_024529.5(CDC73):c.1316+14del
|
|
|
NM_024529.5(CDC73):c.1316+15A>G
|
rs372909512
|
|
NM_024529.5(CDC73):c.1316+17A>G
|
|
|
NM_024529.5(CDC73):c.1316+18T>A
|
|
|
NM_024529.5(CDC73):c.1316+18del
|
|
|
NM_024529.5(CDC73):c.1316+19A>G
|
|
|
NM_024529.5(CDC73):c.1316+1del
|
rs2102058495
|
|
NM_024529.5(CDC73):c.1316+20_1316+22del
|
rs2102058536
|
|
NM_024529.5(CDC73):c.1316+4A>G
|
rs2102058500
|
|
NM_024529.5(CDC73):c.1316+6A>T
|
rs2102058502
|
|
NM_024529.5(CDC73):c.1316+8A>G
|
rs1572215403
|
|
NM_024529.5(CDC73):c.1317-10C>G
|
rs2102061741
|
|
NM_024529.5(CDC73):c.1317-16A>G
|
|
|
NM_024529.5(CDC73):c.1317-17C>T
|
|
|
NM_024529.5(CDC73):c.1317-20A>G
|
rs767329060
|
|
NM_024529.5(CDC73):c.1317-3T>C
|
|
|
NM_024529.5(CDC73):c.1317-7C>T
|
rs1677755980
|
|
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
|
|
|
NM_024529.5(CDC73):c.132-12del
|
|
|
NM_024529.5(CDC73):c.132-13T>A
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-13T>G
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-14_132-13insAATT
|
rs530110098
|
|
NM_024529.5(CDC73):c.132-15C>T
|
rs2103113865
|
|
NM_024529.5(CDC73):c.132-16G>C
|
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
NM_024529.5(CDC73):c.132-18T>C
|
rs1572142481
|
|
NM_024529.5(CDC73):c.132-19C>G
|
|
|
NM_024529.5(CDC73):c.132-20del
|
rs2103113858
|
|
NM_024529.5(CDC73):c.132-2A>C
|
|
|
NM_024529.5(CDC73):c.132-7A>G
|
|
|
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
|
|
|
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
|
|
|
NM_024529.5(CDC73):c.1322G>A (p.Arg441His)
|
rs778432682
|
|
NM_024529.5(CDC73):c.1323C>T (p.Arg441=)
|
rs747780211
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
|
|
|
NM_024529.5(CDC73):c.1329A>G (p.Val443=)
|
|
|
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
|
|
|
NM_024529.5(CDC73):c.1332C>G (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1332C>T (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024529.5(CDC73):c.1338T>C (p.Phe446=)
|
rs2102061810
|
|
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
|
|
|
NM_024529.5(CDC73):c.1341G>A (p.Val447=)
|
rs771409544
|
|
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
|
|
|
NM_024529.5(CDC73):c.1350T>C (p.Pro450=)
|
rs2102061831
|
|
NM_024529.5(CDC73):c.1353A>G (p.Ala451=)
|
rs1677756910
|
|
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg)
|
rs1444457760
|
|
NM_024529.5(CDC73):c.1368T>C (p.Gly456=)
|
rs1553291416
|
|
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
|
|
|
NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)
|
|
|
NM_024529.5(CDC73):c.1381T>G (p.Leu461Val)
|
|
|
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)
|
rs1199579887
|
|
NM_024529.5(CDC73):c.1385C>G (p.Pro462Arg)
|
rs1572217735
|
|
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
|
|
|
NM_024529.5(CDC73):c.1389T>C (p.Asp463=)
|
rs2102061880
|
|
NM_024529.5(CDC73):c.138A>G (p.Gly46=)
|
|
|
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
|
|
|
NM_024529.5(CDC73):c.1397del (p.Pro466fs)
|
rs2102061886
|
|
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
|
|
|
NM_024529.5(CDC73):c.13C>T (p.Leu5Phe)
|
rs1296841626
|
|
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)
|
rs587776561
|
|
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr)
|
rs1677757493
|
|
NM_024529.5(CDC73):c.1405dup (p.Ile469fs)
|
rs1677757559
|
|
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr)
|
rs1677757603
|
|
NM_024529.5(CDC73):c.1410T>C (p.Phe470=)
|
rs2102061903
|
|
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu)
|
rs1677757689
|
|
NM_024529.5(CDC73):c.1417+14T>C
|
|
|
NM_024529.5(CDC73):c.1417+14del
|
|
|
NM_024529.5(CDC73):c.1417+15G>A
|
|
|
NM_024529.5(CDC73):c.1417+20T>A
|
|
|
NM_024529.5(CDC73):c.1417+20_1417+23del
|
|
|
NM_024529.5(CDC73):c.1417+5G>T
|
rs2102061922
|
|
NM_024529.5(CDC73):c.1417+8T>C
|
|
|
NM_024529.5(CDC73):c.1417dup (p.Ile473fs)
|
rs2102061912
|
|
NM_024529.5(CDC73):c.1418-10C>A
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10C>T
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10CT[2]
|
rs1572226215
|
|
NM_024529.5(CDC73):c.1418-11C>G
|
rs1328380226
|
|
NM_024529.5(CDC73):c.1418-11C>T
|
|
|
NM_024529.5(CDC73):c.1418-12C>T
|
rs2102073203
|
|
NM_024529.5(CDC73):c.1418-14C>T
|
|
|
NM_024529.5(CDC73):c.1418-15C>T
|
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-17C>T
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-3T>C
|
rs1678015232
|
|
NM_024529.5(CDC73):c.1418-6C>G
|
rs1678015138
|
|
NM_024529.5(CDC73):c.1418-7T>C
|
rs2102073224
|
|
NM_024529.5(CDC73):c.1418-8C>T
|
rs2102073220
|
|
NM_024529.5(CDC73):c.1422A>G (p.Lys474=)
|
|
|
NM_024529.5(CDC73):c.1425C>T (p.Ala475=)
|
rs1572226219
|
|
NM_024529.5(CDC73):c.1431T>C (p.His477=)
|
rs2102073261
|
|
NM_024529.5(CDC73):c.1432C>G (p.Leu478Val)
|
rs1060500025
|
|
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp)
|
rs1553292962
|
|
NM_024529.5(CDC73):c.1440T>C (p.Tyr480=)
|
|
|
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr)
|
rs1678015613
|
|
NM_024529.5(CDC73):c.1443T>C (p.Asp481=)
|
|
|
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys)
|
rs2102073303
|
|
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp)
|
rs2103113897
|
|
NM_024529.5(CDC73):c.144A>G (p.Glu48=)
|
rs2103113897
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024529.5(CDC73):c.1453C>T (p.Leu485=)
|
rs761968225
|
|
NM_024529.5(CDC73):c.1455G>T (p.Leu485=)
|
|
|
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys)
|
rs200806263
|
|
NM_024529.5(CDC73):c.1460C>T (p.Pro487Leu)
|
rs1678015855
|
|
NM_024529.5(CDC73):c.1462A>C (p.Asn488His)
|
|
|
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
|
|
|
NM_024529.5(CDC73):c.1465G>C (p.Val489Leu)
|
rs2102073378
|
|
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg)
|
rs2102073385
|
|
NM_024529.5(CDC73):c.1470G>C (p.Gln490His)
|
|
|
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu)
|
rs2102073386
|
|
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile)
|
rs2102073388
|
|
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys)
|
rs2102073392
|
|
NM_024529.5(CDC73):c.1479T>C (p.Asp493=)
|
|
|
NM_024529.5(CDC73):c.147C>T (p.Gly49=)
|
rs1310600802
|
|
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile)
|
rs1199025166
|
|
NM_024529.5(CDC73):c.1482A>G (p.Val494=)
|
rs1286819904
|
|
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala)
|
rs1558326136
|
|
NM_024529.5(CDC73):c.1485A>G (p.Thr495=)
|
rs2102073429
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
NM_024529.5(CDC73):c.1488A>G (p.Val496=)
|
rs2102073439
|
|
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu)
|
rs2103113904
|
|
NM_024529.5(CDC73):c.1491A>G (p.Leu497=)
|
rs1448322761
|
|
NM_024529.5(CDC73):c.149A>G (p.Gln50Arg)
|
rs1276311364
|
|
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His)
|
rs1553292970
|
|
NM_024529.5(CDC73):c.1503T>C (p.Tyr501=)
|
|
|
NM_024529.5(CDC73):c.1506C>T (p.His502=)
|
rs2102073494
|
|
NM_024529.5(CDC73):c.1509A>G (p.Lys503=)
|
rs2102073498
|
|
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys)
|
rs1292596060
|
|
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr)
|
rs1558326147
|
|
NM_024529.5(CDC73):c.1519G>T (p.Asp507Tyr)
|
rs1678017026
|
|
NM_024529.5(CDC73):c.151C>T (p.Pro51Ser)
|
rs540541696
|
|
NM_024529.5(CDC73):c.1520A>T (p.Asp507Val)
|
rs2102073531
|
|
NM_024529.5(CDC73):c.1521T>C (p.Asp507=)
|
rs1476554322
|
|
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024529.5(CDC73):c.1527A>G (p.Pro509=)
|
rs765271361
|
|
NM_024529.5(CDC73):c.1528G>A (p.Val510Met)
|
|
|
NM_024529.5(CDC73):c.1528G>C (p.Val510Leu)
|
|
|
NM_024529.5(CDC73):c.1529T>C (p.Val510Ala)
|
rs2102073560
|
|
NM_024529.5(CDC73):c.1536A>G (p.Leu512=)
|
|
|
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)
|
rs1060500011
|
|
NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)
|
|
|
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile)
|
rs1678017409
|
|
NM_024529.5(CDC73):c.1558A>C (p.Arg520=)
|
|
|
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly)
|
rs1553292974
|
|
NM_024529.5(CDC73):c.1559+10del
|
rs767962310
|
|
NM_024529.5(CDC73):c.1559+13C>G
|
|
|
NM_024529.5(CDC73):c.1559+16A>G
|
rs2102073684
|
|
NM_024529.5(CDC73):c.1559+18A>C
|
rs988361827
|
|
NM_024529.5(CDC73):c.1559+4A>T
|
rs1001095861
|
|
NM_024529.5(CDC73):c.1559+8C>T
|
rs751279026
|
|
NM_024529.5(CDC73):c.1560-16A>G
|
rs935733228
|
|
NM_024529.5(CDC73):c.1560-18C>A
|
|
|
NM_024529.5(CDC73):c.1560-18C>T
|
rs925676253
|
|
NM_024529.5(CDC73):c.1560-20T>C
|
|
|
NM_024529.5(CDC73):c.1560-4del
|
|
|
NM_024529.5(CDC73):c.1560-4dup
|
rs761016442
|
|
NM_024529.5(CDC73):c.1560-9T>A
|
rs1572226919
|
|
NM_024529.5(CDC73):c.1560G>A (p.Arg520=)
|
rs1487870537
|
|
NM_024529.5(CDC73):c.1564A>T (p.Met522Leu)
|
rs751152405
|
|
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu)
|
rs1558326418
|
|
NM_024529.5(CDC73):c.156A>G (p.Arg52=)
|
rs886045712
|
|
NM_024529.5(CDC73):c.1576A>G (p.Lys526Glu)
|
|
|
NM_024529.5(CDC73):c.1578A>G (p.Lys526=)
|
rs1678030993
|
|
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)
|
rs1675541893
|
|
NM_024529.5(CDC73):c.1581G>T (p.Ser527=)
|
rs141013612
|
|
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer)
|
rs1368184407
|
|
NM_024529.5(CDC73):c.1587G>C (p.Leu529Phe)
|
|
|
NM_024529.5(CDC73):c.158A>G (p.Glu53Gly)
|
rs1572142551
|
|
NM_024529.5(CDC73):c.1590A>G (p.Arg530=)
|
rs1456447381
|
|
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
|
|
|
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
|
|
|
NM_024529.5(CDC73):c.159G>A (p.Glu53=)
|
rs2103113918
|
|
NM_024529.5(CDC73):c.15T>G (p.Leu5=)
|
rs2103111572
|
|
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
NM_024529.5(CDC73):c.162C>T (p.Tyr54=)
|
rs121434265
|
|
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys)
|
rs2103113933
|
|
NM_024529.5(CDC73):c.165C>T (p.Tyr55=)
|
rs2103113938
|
|
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
|
|
|
NM_024529.5(CDC73):c.168A>T (p.Thr56=)
|
rs2103113949
|
|
NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)
|
|
|
NM_024529.5(CDC73):c.174T>C (p.Asp58=)
|
rs1060503806
|
|
NM_024529.5(CDC73):c.177C>T (p.Ser59=)
|
rs1675542356
|
|
NM_024529.5(CDC73):c.178A>G (p.Ile60Val)
|
rs1572142567
|
|
NM_024529.5(CDC73):c.178A>T (p.Ile60Phe)
|
|
|
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
|
|
|
NM_024529.5(CDC73):c.17del (p.Ser6fs)
|
|
|
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
|
|
|
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)
|
rs1060500015
|
|
NM_024529.5(CDC73):c.189A>G (p.Leu63=)
|
rs1675542629
|
|
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
|
|
|
NM_024529.5(CDC73):c.18C>T (p.Ser6=)
|
rs564726032
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.192T>C (p.Leu64=)
|
rs1675542758
|
|
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
|
|
|
NM_024529.5(CDC73):c.193A>C (p.Asn65His)
|
rs2103113994
|
|
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp)
|
rs1675542823
|
|
NM_024529.5(CDC73):c.196A>T (p.Asn66Tyr)
|
|
|
NM_024529.5(CDC73):c.1A>G (p.Met1Val)
|
rs1558276054
|
|
NM_024529.5(CDC73):c.201del (p.His68fs)
|
rs2103114004
|
|
NM_024529.5(CDC73):c.202C>T (p.His68Tyr)
|
|
|
NM_024529.5(CDC73):c.203A>C (p.His68Pro)
|
|
|
NM_024529.5(CDC73):c.205C>G (p.Leu69Val)
|
rs1675543142
|
|
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe)
|
rs1675543142
|
|
NM_024529.5(CDC73):c.211C>G (p.His71Asp)
|
rs2103114010
|
|
NM_024529.5(CDC73):c.213T>C (p.His71=)
|
|
|
NM_024529.5(CDC73):c.21C>G (p.Val7=)
|
rs769522707
|
|
NM_024529.5(CDC73):c.21C>T (p.Val7=)
|
rs769522707
|
|
NM_024529.5(CDC73):c.220dup (p.Tyr74fs)
|
rs1572142597
|
|
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
|
|
|
NM_024529.5(CDC73):c.225C>A (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.225C>G (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.225C>T (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
|
|
|
NM_024529.5(CDC73):c.22C>T (p.Leu8=)
|
rs1366872937
|
|
NM_024529.5(CDC73):c.230G>A (p.Arg77His)
|
rs1572142617
|
|
NM_024529.5(CDC73):c.230G>C (p.Arg77Pro)
|
rs1572142617
|
|
NM_024529.5(CDC73):c.230G>T (p.Arg77Leu)
|
|
|
NM_024529.5(CDC73):c.233C>G (p.Ala78Gly)
|
|
|
NM_024529.5(CDC73):c.234A>C (p.Ala78=)
|
rs2103114047
|
|
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
|
|
|
NM_024529.5(CDC73):c.237+18del
|
rs753979898
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+1G>C
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+3A>G
|
|
|
NM_024529.5(CDC73):c.237+5G>A
|
rs1675543609
|
|
NM_024529.5(CDC73):c.237_237+1insA
|
|
|
NM_024529.5(CDC73):c.238-10T>G
|
|
|
NM_024529.5(CDC73):c.238-14A>G
|
rs2103117745
|
|
NM_024529.5(CDC73):c.238-17T>C
|
|
|
NM_024529.5(CDC73):c.238-17T>G
|
|
|
NM_024529.5(CDC73):c.238-3dup
|
rs1553278252
|
|
NM_024529.5(CDC73):c.238-5T>C
|
rs2103117757
|
|
NM_024529.5(CDC73):c.238-6T>A
|
rs1675669973
|
|
NM_024529.5(CDC73):c.238-7G>A
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-7G>C
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-8G>A
|
rs2103117753
|
|
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala)
|
rs2103117767
|
|
NM_024529.5(CDC73):c.244A>G (p.Asn82Asp)
|
rs2103117785
|
|
NM_024529.5(CDC73):c.245del (p.Asn82fs)
|
rs1060500009
|
|
NM_024529.5(CDC73):c.249T>C (p.Ile83=)
|
|
|
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser)
|
rs754686636
|
|
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
|
|
|
NM_024529.5(CDC73):c.252T>C (p.Pro84=)
|
rs1572146630
|
|
NM_024529.5(CDC73):c.258T>C (p.Val86=)
|
rs1060500023
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.261A>G (p.Arg87=)
|
rs2103117840
|
|
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln)
|
rs2103111603
|
|
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
|
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
NM_024529.5(CDC73):c.282A>G (p.Leu94=)
|
|
|
NM_024529.5(CDC73):c.282A>T (p.Leu94=)
|
rs932737851
|
|
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro)
|
rs2103117916
|
|
NM_024529.5(CDC73):c.285T>G (p.Leu95=)
|
rs1572146653
|
|
NM_024529.5(CDC73):c.288A>T (p.Gly96=)
|
|
|
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
|
|
|
NM_024529.5(CDC73):c.294C>A (p.Leu98=)
|
|
|
NM_024529.5(CDC73):c.294C>G (p.Leu98=)
|
|
|
NM_024529.5(CDC73):c.294C>T (p.Leu98=)
|
rs1675671233
|
|
NM_024529.5(CDC73):c.295A>G (p.Asn99Asp)
|
rs2103117949
|
|
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser)
|
rs1060500017
|
|
NM_024529.5(CDC73):c.299G>A (p.Gly100Asp)
|
|
|
NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)
|
|
|
NM_024529.5(CDC73):c.29A>T (p.Gln10Leu)
|
rs2103111611
|
|
NM_024529.5(CDC73):c.2dup (p.Met1fs)
|
|
|
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys)
|
rs772376553
|
|
NM_024529.5(CDC73):c.304G>A (p.Ala102Thr)
|
rs1675671504
|
|
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser)
|
rs1675671504
|
|
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
|
|
|
NM_024529.5(CDC73):c.307+10T>G
|
|
|
NM_024529.5(CDC73):c.307+15A>G
|
|
|
NM_024529.5(CDC73):c.307+16A>G
|
|
|
NM_024529.5(CDC73):c.307+17T>A
|
|
|
NM_024529.5(CDC73):c.307+19G>T
|
|
|
NM_024529.5(CDC73):c.307+1G>A
|
|
|
NM_024529.5(CDC73):c.307+3G>A
|
|
|
NM_024529.5(CDC73):c.307+5G>A
|
|
|
NM_024529.5(CDC73):c.307+5G>C
|
|
|
NM_024529.5(CDC73):c.307+5G>T
|
rs2103117996
|
|
NM_024529.5(CDC73):c.307+7A>G
|
rs1553278270
|
|
NM_024529.5(CDC73):c.307+9T>C
|
rs2103118004
|
|
NM_024529.5(CDC73):c.307+9T>G
|
|
|
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro)
|
rs1675671751
|
|
NM_024529.5(CDC73):c.308-10A>C
|
rs1572150389
|
|
NM_024529.5(CDC73):c.308-10_308-9del
|
rs2103121417
|
|
NM_024529.5(CDC73):c.308-11del
|
|
|
NM_024529.5(CDC73):c.308-12T>G
|
|
|
NM_024529.5(CDC73):c.308-15T>G
|
rs1196256327
|
|
NM_024529.5(CDC73):c.308-16C>G
|
|
|
NM_024529.5(CDC73):c.308-18A>C
|
|
|
NM_024529.5(CDC73):c.308-20G>A
|
|
|
NM_024529.5(CDC73):c.308-3C>T
|
|
|
NM_024529.5(CDC73):c.308-6C>T
|
|
|
NM_024529.5(CDC73):c.308-7T>A
|
|
|
NM_024529.5(CDC73):c.308-9T>C
|
rs1572150390
|
|
NM_024529.5(CDC73):c.309A>G (p.Ser103=)
|
|
|
NM_024529.5(CDC73):c.30G>A (p.Gln10=)
|
rs764533991
|
|
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser)
|
rs1675773683
|
|
NM_024529.5(CDC73):c.312A>G (p.Thr104=)
|
rs747337987
|
|
NM_024529.5(CDC73):c.312A>T (p.Thr104=)
|
|
|
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)
|
rs1675773790
|
|
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
|
|
|
NM_024529.5(CDC73):c.318A>G (p.Ala106=)
|
|
|
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly)
|
rs1374821216
|
|
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
|
|
|
NM_024529.5(CDC73):c.328A>C (p.Arg110=)
|
rs2103121465
|
|
NM_024529.5(CDC73):c.331del (p.Ser111fs)
|
rs2103121472
|
|
NM_024529.5(CDC73):c.336T>A (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.336T>G (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)
|
rs2103121496
|
|
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe)
|
rs1675774810
|
|
NM_024529.5(CDC73):c.342A>G (p.Leu114=)
|
|
|
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
|
|
|
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
|
|
|
NM_024529.5(CDC73):c.349G>A (p.Gly117Ser)
|
rs1675774944
|
|
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
|
|
|
NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)
|
|
|
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)
|
rs886041278
|
|
NM_024529.5(CDC73):c.357G>A (p.Gln119=)
|
rs2103121514
|
|
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)
|
rs1572150469
|
|
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln)
|
rs2103121520
|
|
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
|
|
|
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
|
|
|
NM_024529.5(CDC73):c.360A>T (p.Arg120=)
|
rs2103121528
|
|
NM_024529.5(CDC73):c.366T>C (p.Thr122=)
|
rs2103121532
|
|
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
|
|
|
NM_024529.5(CDC73):c.370+10G>T
|
rs1572150508
|
|
NM_024529.5(CDC73):c.370+11T>A
|
|
|
NM_024529.5(CDC73):c.370+15A>G
|
rs773172494
|
|
NM_024529.5(CDC73):c.370+3A>G
|
|
|
NM_024529.5(CDC73):c.370+7C>T
|
rs1375228161
|
|
NM_024529.5(CDC73):c.370+9T>A
|
rs1553278822
|
|
NM_024529.5(CDC73):c.371-10T>A
|
|
|
NM_024529.5(CDC73):c.371-11T>C
|
|
|
NM_024529.5(CDC73):c.371-11_371-10del
|
|
|
NM_024529.5(CDC73):c.371-12T>G
|
|
|
NM_024529.5(CDC73):c.371-13C>G
|
|
|
NM_024529.5(CDC73):c.371-13C>T
|
|
|
NM_024529.5(CDC73):c.371-13_371-12del
|
rs1558282411
|
|
NM_024529.5(CDC73):c.371-14T>G
|
|
|
NM_024529.5(CDC73):c.371-16T>G
|
|
|
NM_024529.5(CDC73):c.371-17T>G
|
rs763780849
|
|
NM_024529.5(CDC73):c.371-19A>T
|
rs2103121613
|
|
NM_024529.5(CDC73):c.371-20T>C
|
rs2103121611
|
|
NM_024529.5(CDC73):c.371-4A>C
|
|
|
NM_024529.5(CDC73):c.371-5TA[3]
|
rs1553278836
|
|
NM_024529.5(CDC73):c.371-6T>A
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-6T>C
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-9_371-6del
|
|
|
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr)
|
rs1455915064
|
|
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
|
|
|
NM_024529.5(CDC73):c.375A>G (p.Lys125=)
|
rs1572150593
|
|
NM_024529.5(CDC73):c.375dup (p.Arg126fs)
|
rs1572150584
|
|
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)
|
rs1553278844
|
|
NM_024529.5(CDC73):c.377G>A (p.Arg126Gln)
|
rs1675777366
|
|
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr)
|
rs1675777420
|
|
NM_024529.5(CDC73):c.37A>G (p.Ile13Val)
|
rs762220544
|
|
NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)
|
|
|
NM_024529.5(CDC73):c.380C>T (p.Ala127Val)
|
rs1558282443
|
|
NM_024529.5(CDC73):c.386A>G (p.Asp129Gly)
|
rs1675777865
|
|
NM_024529.5(CDC73):c.393T>A (p.Val131=)
|
rs1572150622
|
|
NM_024529.5(CDC73):c.396A>G (p.Leu132=)
|
|
|
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
|
|
|
NM_024529.5(CDC73):c.399A>G (p.Ala133=)
|
rs1553278851
|
|
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
|
|
|
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly)
|
rs1675778193
|
|
NM_024529.5(CDC73):c.405A>G (p.Ala135=)
|
rs2103121701
|
|
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)
|
rs2103121703
|
|
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr)
|
rs369542555
|
|
NM_024529.5(CDC73):c.412C>G (p.Pro138Ala)
|
|
|
NM_024529.5(CDC73):c.413C>T (p.Pro138Leu)
|
rs2103121717
|
|
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
NM_024529.5(CDC73):c.419T>G (p.Ile140Ser)
|
rs1675778444
|
|
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
|
|
|
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg)
|
rs767638609
|
|
NM_024529.5(CDC73):c.423+10C>A
|
|
|
NM_024529.5(CDC73):c.423+11dup
|
|
|
NM_024529.5(CDC73):c.423+12_423+13del
|
rs770561055
|
|
NM_024529.5(CDC73):c.423+13T>C
|
rs2103121752
|
|
NM_024529.5(CDC73):c.423+14A>G
|
|
|
NM_024529.5(CDC73):c.423+14A>T
|
|
|
NM_024529.5(CDC73):c.423+15T>A
|
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTNNNNNNN
|
rs2103121762
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCAAGAAACTGTATTTT
|
rs2103121737
|
|
NM_024529.5(CDC73):c.423+1G>A
|
rs1131691732
|
|
NM_024529.5(CDC73):c.423+6G>A
|
|
|
NM_024529.5(CDC73):c.423+6G>T
|
|
|
NM_024529.5(CDC73):c.423+9dup
|
|
|
NM_024529.5(CDC73):c.423G>A (p.Glu141=)
|
rs1291044007
|
|
NM_024529.5(CDC73):c.424-10T>C
|
|
|
NM_024529.5(CDC73):c.424-11G>A
|
|
|
NM_024529.5(CDC73):c.424-12G>A
|
|
|
NM_024529.5(CDC73):c.424-14G>A
|
|
|
NM_024529.5(CDC73):c.424-15A>G
|
|
|
NM_024529.5(CDC73):c.430G>A (p.Glu144Lys)
|
rs1558283535
|
|
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg)
|
rs1675832296
|
|
NM_024529.5(CDC73):c.434G>A (p.Cys145Tyr)
|
|
|
NM_024529.5(CDC73):c.436G>C (p.Val146Leu)
|
|
|
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
|
|
|
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del)
|
rs1572139757
|
|
NM_024529.5(CDC73):c.441C>T (p.Arg147=)
|
|
|
NM_024529.5(CDC73):c.444T>G (p.Leu148=)
|
|
|
NM_024529.5(CDC73):c.455_456del (p.Arg152fs)
|
rs1060500019
|
|
NM_024529.5(CDC73):c.456A>G (p.Arg152=)
|
rs1675832662
|
|
NM_024529.5(CDC73):c.459G>A (p.Leu153=)
|
rs1572152394
|
|
NM_024529.5(CDC73):c.465C>G (p.Ala155=)
|
rs559275109
|
|
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys)
|
rs2103123773
|
|
NM_024529.5(CDC73):c.467G>A (p.Arg156His)
|
rs1572152406
|
|
NM_024529.5(CDC73):c.46A>G (p.Lys16Glu)
|
rs1675464429
|
|
NM_024529.5(CDC73):c.471G>A (p.Leu157=)
|
rs1675832895
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
NM_024529.5(CDC73):c.480C>T (p.His160=)
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
NM_024529.5(CDC73):c.483dup (p.Glu162fs)
|
rs1553279085
|
|
NM_024529.5(CDC73):c.48G>A (p.Lys16=)
|
rs2103111654
|
|
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
|
|
|
NM_024529.5(CDC73):c.495A>G (p.Val165=)
|
rs2103123800
|
|
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter)
|
rs2103123807
|
|
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
|
|
|
NM_024529.5(CDC73):c.4del (p.Ala2fs)
|
rs1060500020
|
|
NM_024529.5(CDC73):c.501T>A (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501T>G (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501_502del (p.Glu168fs)
|
rs2103123824
|
|
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)
|
rs1553279088
|
|
NM_024529.5(CDC73):c.510T>C (p.Ile170=)
|
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
NM_024529.5(CDC73):c.512+10C>A
|
rs147939077
|
|
NM_024529.5(CDC73):c.512+11T>G
|
|
|
NM_024529.5(CDC73):c.512+14T>G
|
rs2103123848
|
|
NM_024529.5(CDC73):c.512+15T>A
|
|
|
NM_024529.5(CDC73):c.512+16A>G
|
rs2103123856
|
|
NM_024529.5(CDC73):c.512+18G>T
|
rs2103123859
|
|
NM_024529.5(CDC73):c.512+3A>C
|
rs1558283570
|
|
NM_024529.5(CDC73):c.512+4A>C
|
|
|
NM_024529.5(CDC73):c.512+5G>C
|
rs557303948
|
|
NM_024529.5(CDC73):c.512+6A>C
|
|
|
NM_024529.5(CDC73):c.512+6A>G
|
|
|
NM_024529.5(CDC73):c.512+6A>T
|
rs1216367951
|
|
NM_024529.5(CDC73):c.512+8T>C
|
rs2103123836
|
|
NM_024529.5(CDC73):c.513-10T>C
|
|
|
NM_024529.5(CDC73):c.513-12A>G
|
|
|
NM_024529.5(CDC73):c.513-14G>T
|
|
|
NM_024529.5(CDC73):c.513-18A>G
|
|
|
NM_024529.5(CDC73):c.513-1G>A
|
|
|
NM_024529.5(CDC73):c.513-20A>T
|
|
|
NM_024529.5(CDC73):c.513-8G>C
|
rs757366134
|
|
NM_024529.5(CDC73):c.516T>C (p.Ser172=)
|
|
|
NM_024529.5(CDC73):c.517T>C (p.Leu173=)
|
rs1675912278
|
|
NM_024529.5(CDC73):c.525A>G (p.Glu175=)
|
|
|
NM_024529.5(CDC73):c.528T>C (p.Ala176=)
|
|
|
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
|
|
|
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
|
|
|
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
|
|
|
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
|
|
|
NM_024529.5(CDC73):c.53_54del (p.Ile18fs)
|
rs1558276157
|
|
NM_024529.5(CDC73):c.540A>G (p.Glu180=)
|
rs2103126183
|
|
NM_024529.5(CDC73):c.54T>C (p.Ile18=)
|
rs2103111672
|
|
NM_024529.5(CDC73):c.555C>A (p.Ile185=)
|
|
|
NM_024529.5(CDC73):c.55G>A (p.Val19Met)
|
rs1060500013
|
|
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
|
|
|
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
|
|
|
NM_024529.5(CDC73):c.591C>T (p.Ile197=)
|
rs1675913192
|
|
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
|
|
|
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
|
|
|
NM_024529.5(CDC73):c.606T>C (p.Asp202=)
|
|
|
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
|
|
|
NM_024529.5(CDC73):c.60G>A (p.Val20=)
|
rs1572139778
|
|
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
|
|
|
NM_024529.5(CDC73):c.617C>G (p.Thr206Ser)
|
|
|
NM_024529.5(CDC73):c.619G>A (p.Ala207Thr)
|
rs1060500016
|
|
NM_024529.5(CDC73):c.621C>T (p.Ala207=)
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter)
|
rs2103126265
|
|
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
|
|
|
NM_024529.5(CDC73):c.633G>A (p.Arg211=)
|
|
|
NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)
|
|
|
NM_024529.5(CDC73):c.640G>A (p.Val214Met)
|
rs1675913675
|
|
NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)
|
|
|
NM_024529.5(CDC73):c.645T>C (p.Asp215=)
|
rs2103126282
|
|
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
|
|
|
NM_024529.5(CDC73):c.648T>C (p.Ala216=)
|
rs143149579
|
|
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)
|
rs1675465013
|
|
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)
|
rs886045713
|
|
NM_024529.5(CDC73):c.65G>A (p.Gly22Glu)
|
|
|
NM_024529.5(CDC73):c.65G>C (p.Gly22Ala)
|
rs1675465059
|
|
NM_024529.5(CDC73):c.663C>T (p.Thr221=)
|
rs2103126329
|
|
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)
|
rs770439843
|
|
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln)
|
rs1572154825
|
|
NM_024529.5(CDC73):c.670A>G (p.Ile224Val)
|
rs1675914120
|
|
NM_024529.5(CDC73):c.672T>A (p.Ile224=)
|
|
|
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly)
|
rs2103126362
|
|
NM_024529.5(CDC73):c.678C>T (p.Ser226=)
|
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.684G>C (p.Glu228Asp)
|
rs368708158
|
|
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.687A>G (p.Arg229=)
|
rs1675914685
|
|
NM_024529.5(CDC73):c.687A>T (p.Arg229Ser)
|
rs1675914685
|
|
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.688G>A (p.Val230Ile)
|
rs2103126383
|
|
NM_024529.5(CDC73):c.689T>A (p.Val230Glu)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.689T>C (p.Val230Ala)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg)
|
rs1060500022
|
|
NM_024529.5(CDC73):c.699A>G (p.Thr233=)
|
|
|
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
|
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
|
|
|
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala)
|
rs2103126444
|
|
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
|
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
NM_024529.5(CDC73):c.711C>A (p.Ile237=)
|
rs2103126478
|
|
NM_024529.5(CDC73):c.718del (p.Ser240fs)
|
rs1572154885
|
|
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala)
|
rs1572154890
|
|
NM_024529.5(CDC73):c.723A>G (p.Thr241=)
|
rs2103126502
|
|
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
|
|
|
NM_024529.5(CDC73):c.726A>G (p.Gly242=)
|
rs2103126513
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
NM_024529.5(CDC73):c.729+10A>T
|
|
|
NM_024529.5(CDC73):c.729+13T>C
|
|
|
NM_024529.5(CDC73):c.729+18_729+21del
|
rs1558285044
|
|
NM_024529.5(CDC73):c.729+19T>G
|
|
|
NM_024529.5(CDC73):c.729+1G>T
|
rs1060500012
|
|
NM_024529.5(CDC73):c.729+3A>G
|
|
|
NM_024529.5(CDC73):c.729+5T>C
|
|
|
NM_024529.5(CDC73):c.729+6del
|
|
|
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn)
|
rs2103126521
|
|
NM_024529.5(CDC73):c.730-10T>C
|
rs2103130504
|
|
NM_024529.5(CDC73):c.730-14C>T
|
|
|
NM_024529.5(CDC73):c.730-19A>G
|
|
|
NM_024529.5(CDC73):c.730-5T>C
|
rs2103130512
|
|
NM_024529.5(CDC73):c.730-6T>C
|
rs1060503809
|
|
NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)
|
|
|
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)
|
rs368199363
|
|
NM_024529.5(CDC73):c.733T>G (p.Phe245Val)
|
rs2103130516
|
|
NM_024529.5(CDC73):c.738C>T (p.Ser246=)
|
rs2103130522
|
|
NM_024529.5(CDC73):c.744C>T (p.Asn248=)
|
rs866174269
|
|
NM_024529.5(CDC73):c.745A>G (p.Ile249Val)
|
|
|
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr)
|
rs973863694
|
|
NM_024529.5(CDC73):c.748T>A (p.Phe250Ile)
|
rs2103130536
|
|
NM_024529.5(CDC73):c.751G>A (p.Ala251Thr)
|
rs1676029137
|
|
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly)
|
rs2103130541
|
|
NM_024529.5(CDC73):c.753A>T (p.Ala251=)
|
|
|
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg)
|
rs2103130545
|
|
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
|
|
|
NM_024529.5(CDC73):c.766G>A (p.Val256Ile)
|
rs1472498930
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_024529.5(CDC73):c.768A>G (p.Val256=)
|
|
|
NM_024529.5(CDC73):c.76A>G (p.Ile26Val)
|
rs1675465327
|
|
NM_024529.5(CDC73):c.774C>G (p.Ala258=)
|
|
|
NM_024529.5(CDC73):c.774C>T (p.Ala258=)
|
rs1161574170
|
|
NM_024529.5(CDC73):c.779AAG[1] (p.Glu261del)
|
|
|
NM_024529.5(CDC73):c.786G>A (p.Gly262=)
|
|
|
NM_024529.5(CDC73):c.786G>T (p.Gly262=)
|
rs764471804
|
|
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
|
|
|
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
|
|
|
NM_024529.5(CDC73):c.795T>C (p.Pro265=)
|
rs1060503804
|
|
NM_024529.5(CDC73):c.798A>G (p.Glu266=)
|
rs2103130582
|
|
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
|
|
|
NM_024529.5(CDC73):c.7dup (p.Asp3fs)
|
rs1675462891
|
|
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg)
|
rs2103130586
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro)
|
rs750706815
|
|
NM_024529.5(CDC73):c.804A>T (p.Arg268=)
|
rs2103130595
|
|
NM_024529.5(CDC73):c.805C>A (p.Pro269Thr)
|
rs1572158663
|
|
NM_024529.5(CDC73):c.805C>T (p.Pro269Ser)
|
rs1572158663
|
|
NM_024529.5(CDC73):c.807T>G (p.Pro269=)
|
|
|
NM_024529.5(CDC73):c.809C>A (p.Ala270Asp)
|
rs981067363
|
|
NM_024529.5(CDC73):c.809_826del (p.Ala270_Pro275del)
|
|
|
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)
|
rs765029460
|
|
NM_024529.5(CDC73):c.811C>T (p.Pro271Ser)
|
rs765029460
|
|
NM_024529.5(CDC73):c.812C>G (p.Pro271Arg)
|
|
|
NM_024529.5(CDC73):c.814A>G (p.Asn272Asp)
|
|
|
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile)
|
rs752383339
|
|
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys)
|
rs2103130616
|
|
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
|
|
|
NM_024529.5(CDC73):c.818C>T (p.Ala273Val)
|
rs2103130620
|
|
NM_024529.5(CDC73):c.81C>T (p.Phe27=)
|
|
|
NM_024529.5(CDC73):c.828+10C>G
|
rs1442123779
|
|
NM_024529.5(CDC73):c.828+14A>C
|
rs746954367
|
|
NM_024529.5(CDC73):c.828+14A>G
|
|
|
NM_024529.5(CDC73):c.828+15C>T
|
|
|
NM_024529.5(CDC73):c.828+16T>C
|
rs1450561584
|
|
NM_024529.5(CDC73):c.828+16T>G
|
|
|
NM_024529.5(CDC73):c.828+18C>T
|
|
|
NM_024529.5(CDC73):c.828+4A>G
|
rs777621924
|
|
NM_024529.5(CDC73):c.828+7A>C
|
|
|
NM_024529.5(CDC73):c.828+8T>A
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8T>C
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8TGCTTTAC[3]
|
|
|
NM_024529.5(CDC73):c.828G>A (p.Val276=)
|
rs1558287563
|
|
NM_024529.5(CDC73):c.829-12A>C
|
|
|
NM_024529.5(CDC73):c.829-12A>G
|
|
|
NM_024529.5(CDC73):c.829-13_829-8del
|
|
|
NM_024529.5(CDC73):c.829-20C>G
|
|
|
NM_024529.5(CDC73):c.829-3C>T
|
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
NM_024529.5(CDC73):c.831T>C (p.Asp277=)
|
rs1572160261
|
|
NM_024529.5(CDC73):c.832C>A (p.Pro278Thr)
|
|
|
NM_024529.5(CDC73):c.833C>A (p.Pro278His)
|
rs1676083095
|
|
NM_024529.5(CDC73):c.833C>T (p.Pro278Leu)
|
rs1676083095
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
NM_024529.5(CDC73):c.838T>A (p.Leu280Met)
|
|
|
NM_024529.5(CDC73):c.83G>A (p.Gly28Glu)
|
|
|
NM_024529.5(CDC73):c.83G>C (p.Gly28Ala)
|
rs1054465259
|
|
NM_024529.5(CDC73):c.842G>T (p.Arg281Leu)
|
|
|
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
|
|
|
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser)
|
rs369024183
|
|
NM_024529.5(CDC73):c.848A>C (p.Lys283Thr)
|
rs1676083588
|
|
NM_024529.5(CDC73):c.849A>G (p.Lys283=)
|
rs757206621
|
|
NM_024529.5(CDC73):c.84G>C (p.Gly28=)
|
|
|
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
|
|
|
NM_024529.5(CDC73):c.852G>A (p.Gln284=)
|
rs773602413
|
|
NM_024529.5(CDC73):c.852G>C (p.Gln284His)
|
rs773602413
|
|
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
|
|
|
NM_024529.5(CDC73):c.855T>C (p.Pro285=)
|
rs1553280489
|
|
NM_024529.5(CDC73):c.858C>T (p.Ile286=)
|
rs2103132194
|
|
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)
|
rs1131691698
|
|
NM_024529.5(CDC73):c.85del (p.Glu29fs)
|
rs587776560
|
|
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu)
|
rs1131691352
|
|
NM_024529.5(CDC73):c.861A>G (p.Pro287=)
|
rs2103132198
|
|
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
|
|
|
NM_024529.5(CDC73):c.867C>A (p.Ala289=)
|
rs749915144
|
|
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser)
|
rs2103132204
|
|
NM_024529.5(CDC73):c.877dup (p.Tyr293fs)
|
rs2103132218
|
|
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter)
|
rs2103132220
|
|
NM_024529.5(CDC73):c.87G>A (p.Glu29=)
|
rs752004076
|
|
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp)
|
rs752004076
|
|
NM_024529.5(CDC73):c.880G>C (p.Asp294His)
|
rs2103132225
|
|
NM_024529.5(CDC73):c.881A>G (p.Asp294Gly)
|
rs1572160332
|
|
NM_024529.5(CDC73):c.882T>C (p.Asp294=)
|
rs112540003
|
|
NM_024529.5(CDC73):c.892T>G (p.Phe298Val)
|
rs1676084476
|
|
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
|
|
|
NM_024529.5(CDC73):c.893del (p.Phe298fs)
|
rs2103132250
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
NM_024529.5(CDC73):c.907+10T>C
|
rs2103132274
|
|
NM_024529.5(CDC73):c.907+11T>C
|
|
|
NM_024529.5(CDC73):c.907+16C>G
|
|
|
NM_024529.5(CDC73):c.907+16C>T
|
|
|
NM_024529.5(CDC73):c.907+17T>C
|
rs2103132285
|
|
NM_024529.5(CDC73):c.907+19A>C
|
|
|
NM_024529.5(CDC73):c.907+19A>G
|
|
|
NM_024529.5(CDC73):c.907+2C>T
|
|
|
NM_024529.5(CDC73):c.907+4A>G
|
rs768964233
|
|
NM_024529.5(CDC73):c.907+6T>A
|
rs2103132269
|
|
NM_024529.5(CDC73):c.907+8G>A
|
|
|
NM_024529.5(CDC73):c.907+8G>C
|
rs1676084560
|
|
NM_024529.5(CDC73):c.907+8del
|
|
|
NM_024529.5(CDC73):c.908-10T>A
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-10T>C
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-14C>G
|
|
|
NM_024529.5(CDC73):c.908-16C>T
|
|
|
NM_024529.5(CDC73):c.908-18G>A
|
rs529592893
|
|
NM_024529.5(CDC73):c.908-19A>G
|
|
|
NM_024529.5(CDC73):c.908-3T>C
|
rs2103133616
|
|
NM_024529.5(CDC73):c.908-4G>A
|
rs748472788
|
|
NM_024529.5(CDC73):c.908-4G>C
|
|
|
NM_024529.5(CDC73):c.908-6T>C
|
rs2103133605
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-6dup
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-9T>C
|
rs1060503805
|
|
NM_024529.5(CDC73):c.908-9T>G
|
rs1060503805
|
|
NM_024529.5(CDC73):c.90C>T (p.Phe30=)
|
rs2103111735
|
|
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
|
|
|
NM_024529.5(CDC73):c.912G>A (p.Thr304=)
|
rs758730118
|
|
NM_024529.5(CDC73):c.912G>T (p.Thr304=)
|
rs758730118
|
|
NM_024529.5(CDC73):c.915A>G (p.Glu305=)
|
|
|
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp)
|
rs2103133623
|
|
NM_024529.5(CDC73):c.921C>T (p.Phe307=)
|
|
|
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
|
|
|
NM_024529.5(CDC73):c.923A>C (p.Lys308Thr)
|
|
|
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg)
|
rs376649069
|
|
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr)
|
rs1558276199
|
|
NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)
|
|
|
NM_024529.5(CDC73):c.942C>T (p.Thr314=)
|
|
|
NM_024529.5(CDC73):c.945C>T (p.Tyr315=)
|
rs1572161610
|
|
NM_024529.5(CDC73):c.957A>G (p.Thr319=)
|
rs2103133662
|
|
NM_024529.5(CDC73):c.963A>G (p.Lys321=)
|
|
|
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys)
|
rs1676130837
|
|
NM_024529.5(CDC73):c.96del (p.Trp32fs)
|
|
|
NM_024529.5(CDC73):c.972+12_972+14dup
|
|
|
NM_024529.5(CDC73):c.972+13G>C
|
|
|
NM_024529.5(CDC73):c.972+14G>T
|
rs1676131155
|
|
NM_024529.5(CDC73):c.972+17G>A
|
rs1309551469
|
|
NM_024529.5(CDC73):c.972+17G>C
|
|
|
NM_024529.5(CDC73):c.972+19A>G
|
|
|
NM_024529.5(CDC73):c.972+19dup
|
rs2103133685
|
|
NM_024529.5(CDC73):c.972+3A>G
|
rs1676130958
|
|
NM_024529.5(CDC73):c.972+8A>G
|
|
|
NM_024529.5(CDC73):c.972G>A (p.Thr324=)
|
rs369930569
|
|
NM_024529.5(CDC73):c.973-13T>A
|
rs2103178012
|
|
NM_024529.5(CDC73):c.973-14T>G
|
|
|
NM_024529.5(CDC73):c.973-16T>A
|
|
|
NM_024529.5(CDC73):c.973-18A>G
|
|
|
NM_024529.5(CDC73):c.973-20C>T
|
|
|
NM_024529.5(CDC73):c.973-6T>C
|
rs1677131770
|
|
NM_024529.5(CDC73):c.973-8T>C
|
rs557096653
|
|
NM_024529.5(CDC73):c.973-9C>A
|
rs377332359
|
|
NM_024529.5(CDC73):c.973-9C>G
|
rs377332359
|
|
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser)
|
rs2103178025
|
|
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
|
|
|
NM_024529.5(CDC73):c.980C>T (p.Ala327Val)
|
rs1677131810
|
|
NM_024529.5(CDC73):c.981A>C (p.Ala327=)
|
|
|
NM_024529.5(CDC73):c.981A>G (p.Ala327=)
|
rs1263863175
|
|
NM_024529.5(CDC73):c.984T>C (p.Ser328=)
|
|
|
NM_024529.5(CDC73):c.985G>A (p.Ala329Thr)
|
|
|
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser)
|
rs1436120903
|
|
NM_024529.5(CDC73):c.988C>A (p.Arg330=)
|
rs1244272523
|
|
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp)
|
rs1244272523
|
|
NM_024529.5(CDC73):c.989G>T (p.Arg330Leu)
|
rs149875598
|
|
NM_024529.5(CDC73):c.990G>T (p.Arg330=)
|
rs1677132126
|
|
NM_024529.5(CDC73):c.993G>C (p.Lys331Asn)
|
|
|
NM_024529.5(CDC73):c.994A>T (p.Thr332Ser)
|
rs1572196406
|
|
NM_024529.5(CDC73):c.99C>T (p.Pro33=)
|
rs1572139851
|
|
NM_024529.5(CDC73):c.99del (p.Lys34fs)
|
|
|
NM_024529.5(CDC73):c.9C>T (p.Asp3=)
|
rs746910026
|
|
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.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
NM_024675.4(PALB2):c.21G>T (p.Lys7Asn)
|
rs1424944402
|
|
NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)
|
rs1967061407
|
|
NM_024675.4(PALB2):c.247C>A (p.His83Asn)
|
rs773732106
|
|
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)
|
rs1597079946
|
|
NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu)
|
rs552354535
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
NM_024675.4(PALB2):c.364G>A (p.Asp122Asn)
|
rs730881880
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
NM_024675.4(PALB2):c.941A>G (p.Gln314Arg)
|
rs2142430398
|
|
NM_024832.5(RIN3):c.367+51A>T
|
|
|
NM_024832.5(RIN3):c.44+240_44+241inv
|
|
|
NM_024832.5(RIN3):c.532+232A>C
|
|
|
NM_024832.5(RIN3):c.532+23G>T
|
|
|
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
|
rs2139356308
|
|
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)
|
rs121434498
|
|
NM_030662.4(MAP2K2):c.171T>G (p.Phe57Leu)
|
rs1057519910
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032229.3(SLITRK6):c.1915dup (p.Tyr639fs)
|
rs869312872
|
|
NM_032854.4(CORO6):c.1348G>A (p.Val450Met)
|
rs772136445
|
|
NM_033238.3(PML):c.2264G>C (p.Arg755Pro)
|
rs780746013
|
|
NM_033274.5(ADAM19):c.1130+67G>T
|
|
|
NM_033274.5(ADAM19):c.180+659A>C
|
|
|
NM_033274.5(ADAM19):c.251+324T>G
|
|
|
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)
|
rs770248150
|
|
NM_057157.2:c.1184T>C
|
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_138554.5(TLR4):c.*4092C>T
|
|
|
NM_138554.5(TLR4):c.*455G>A
|
|
|
NM_138554.5(TLR4):c.1431A>T (p.Lys477Asn)
|
|
|
NM_138554.5(TLR4):c.6G>T (p.Met2Ile)
|
|
|
NM_138711.6(PPARG):c.466del (p.Ser156fs)
|
rs587776687
|
|
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)
|
rs121909242
|
|
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter)
|
rs121909243
|
|
NM_138761.4(BAX):c.121del (p.Glu41fs)
|
rs398122840
|
|
NM_138761.4(BAX):c.121dup (p.Glu41fs)
|
rs398122840
|
|
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
|
rs1555564365
|
|
NM_144689.5(ZNF420):c.362A>G (p.Asn121Ser)
|
rs771433810
|
|
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)
|
rs752337482
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.10A>G (p.Ile4Val)
|
rs1555611575
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
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.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
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.1353T>C (p.Pro451=)
|
rs1597580172
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
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.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)
|
rs2046824022
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
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.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
|
rs587778365
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)
|
rs1567822604
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
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.756G>A (p.Ala252=)
|
rs746664975
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|
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_144997.7(FLCN):c.871+13T>C
|
rs770537219
|
|
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
|
rs371430235
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|
NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)
|
rs869025238
|
|
NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg)
|
rs869025233
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
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_198148.3(CPXM2):c.497G>A (p.Gly166Glu)
|
rs869025241
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)
|
rs1554040964
|
|
NM_198253.3(TERT):c.200C>T (p.Ala67Val)
|
rs1554043124
|
|
NM_198253.3(TERT):c.337dup (p.Glu113fs)
|
rs1554043088
|
|
NM_198253.3(TERT):c.578C>T (p.Pro193Leu)
|
rs751762765
|
|
NM_198569.3(ADGRG6):c.2127+438T>C
|
|
|
NM_198569.3(ADGRG6):c.2541+173_2541+175inv
|
|
|
NM_198569.3(ADGRG6):c.2541+185_2541+187delinsTCT
|
|
|
NM_203416.4(CD163):c.3344-144C>G
|
|
|
NM_203416.4(CD163):c.45T>A (p.Ala15=)
|
|
|
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
|
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)
|
rs751409106
|
|
NM_207122.2(EXT2):c.1242C>T (p.Ile414=)
|
rs2135127852
|
|
NM_207517.3(ADAMTSL3):c.318-243T>C
|
|
|
NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)
|
|
|
NR_125801.1(PACERR):n.536C>G
|
|
|
PDGRL, 2-BP DEL
|
|
|
Single allele
|
|
|
chr10:108525702..109883836 complex variant
|
|
|
chr11:1092954..1857751 complex variant
|
|
|
chr12:10074776-18800953 complex variant
|
|
|
chr12:13090968..16310672 complex variant
|
|
|
chr12:4920767-5603935 complex variant
|
|
|
chr14:104643721..105932775 complex variant
|
|
|
chr14:20635208..21155433 complex variant
|
|
|
chr17:45008570..45994044 complex variant
|
|
|
chr19:19230868-24115369 complex variant
|
|
|
chr19:36674305-38652962 complex variant
|
|
|
chr19:44501518-45322744 complex variant
|
|
|
chr19:54754752-55624113 complex variant
|
|
|
chr19:55143156-55294969 complex variant
|
|
|
chr19:56133299..57648277 complex variant
|
|
|
chr1:16902894-17264939 complex variant
|
|
|
chr1:17555508-24706269 complex variant
|
|
|
chr1:248525146-248525657 complex variant
|
|
|
chr1:909238-16736132 complex variant
|
|
|
chr20:60885242-61929348 complex variant
|
|
|
chr20:61880169-61908597 complex variant
|
|
|
chr21:45970718..47545826 complex variant
|
|
|
chr2:130949553-130952725 complex variant
|
|
|
chr4:88537276..88537405 complex variant
|
|
|
chr6:29910378..30075843 complex variant
|
|
|
chr6:29910602..29912297 complex variant
|
|
|
chr6:31237124-31378388 complex variant
|
|
|
chr6:32609097-32629809 complex variant
|
|
|
chr9:21187003-21228040 complex variant
|
|
|
m.3308T>C
|
rs28358582
|
|
nsv1067861
|
|
|
t(12;16)(q13.13;p11.2)
|
|
|
t(17;19)(q25.1;p13.3)
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
t(8;10)(q12.1;q23.31)
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|