NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_080704.4(TRPV1):c.-34+7395T>C
|
rs161380
|
0.83591
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_000038.6(APC):c.1635G>A (p.Ala545=)
|
rs351771
|
0.59150
|
NM_000018.4(ACADVL):c.1605+6T>C
|
rs17671352
|
0.56622
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_007294.4(BRCA1):c.-20+101C>G
|
rs799905
|
0.49338
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_020975.6(RET):c.867+48A>G
|
rs2435352
|
0.37996
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_005591.4(MRE11):c.1225+19T>C
|
rs641936
|
0.36577
|
NM_006231.4(POLE):c.6657+16C>T
|
rs5745075
|
0.34836
|
NM_000179.3(MSH6):c.3438+14A>T
|
rs2020911
|
0.32279
|
NM_000199.5(SGSH):c.664-36T>C
|
rs35087113
|
0.31148
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_007294.4(BRCA1):c.*1287C>T
|
rs12516
|
0.30331
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_000179.3(MSH6):c.457+52T>A
|
rs3136282
|
0.29585
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_004628.5(XPC):c.*96C>G
|
rs2229090
|
0.22357
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_001201543.2(FAM161A):c.1584-11G>A
|
rs17513666
|
0.17214
|
NM_004360.5(CDH1):c.*54C>T
|
rs1801026
|
0.17023
|
NM_002878.4(RAD51D):c.234C>T (p.Ser78=)
|
rs9901455
|
0.15951
|
NM_002691.4(POLD1):c.463+8G>T
|
rs1726802
|
0.13898
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln)
|
rs4796033
|
0.11973
|
NM_002691.4(POLD1):c.3218+10A>G
|
rs2463239
|
0.11362
|
NM_001384140.1(PCDH15):c.157+59097T>C
|
rs75443986
|
0.09222
|
NM_003060.4(SLC22A5):c.-77G>A
|
rs13180295
|
0.07424
|
NM_003060.4(SLC22A5):c.-78C>T
|
rs13180043
|
0.07424
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
NM_000535.7(PMS2):c.164-108G>C
|
rs12538294
|
0.06053
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)
|
rs1804670
|
0.05209
|
NM_000016.6(ACADM):c.351A>C (p.Thr117=)
|
rs74090726
|
0.05204
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_020975.6(RET):c.*1969T>C
|
rs3026785
|
0.04255
|
NM_001127511.3(APC):c.166-29015A>T
|
rs75581138
|
0.04169
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_002485.5(NBN):c.703-18G>A
|
rs769418
|
0.03898
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_174878.3(CLRN1):c.6A>C (p.Pro2=)
|
rs111033422
|
0.03830
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)
|
rs116139984
|
0.02971
|
NM_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
NM_001692.4(ATP6V1B1):c.1248+9A>G
|
rs78140305
|
0.02887
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02877
|
NM_001692.4(ATP6V1B1):c.*12G>A
|
rs77794859
|
0.02854
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02846
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_005732.4(RAD50):c.551+85A>G
|
rs75639632
|
0.02708
|
NM_005732.4(RAD50):c.2025C>T (p.Asp675=)
|
rs34147298
|
0.02660
|
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)
|
rs71647807
|
0.02596
|
NM_005732.4(RAD50):c.214-44G>A
|
rs74769721
|
0.02590
|
NM_032383.5(HPS3):c.970+7A>G
|
rs114029765
|
0.02580
|
NM_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02531
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_002354.3(EPCAM):c.859-7C>T
|
rs72882786
|
0.02290
|
NM_000478.6(ALPL):c.1189+19G>T
|
rs61778393
|
0.02227
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
NM_000492.4(CFTR):c.489+91A>G
|
rs56094102
|
0.02063
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
NM_005732.4(RAD50):c.1052-38C>T
|
rs104895045
|
0.01852
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=)
|
rs35004053
|
0.01800
|
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met)
|
rs55909005
|
0.01791
|
NM_002354.3(EPCAM):c.426-20A>G
|
rs6744170
|
0.01762
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01663
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000051.4(ATM):c.186-17A>G
|
rs4987907
|
0.01587
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_006231.4(POLE):c.2550C>T (p.Ile850=)
|
rs5744834
|
0.01438
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
NM_007294.4(BRCA1):c.*36C>G
|
rs3092995
|
0.01385
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)
|
rs115244417
|
0.01348
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_002435.3(MPI):c.345+16C>T
|
rs143242949
|
0.01224
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_000128.4(F11):c.-54G>A
|
rs4253814
|
0.01170
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)
|
rs3219440
|
0.01109
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_002691.4(POLD1):c.849G>T (p.Gln283His)
|
rs113282414
|
0.01085
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
NM_020975.6(RET):c.868-18G>A
|
rs57098408
|
0.01028
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000441.2(SLC26A4):c.1002-9A>C
|
rs10234822
|
0.01002
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)
|
rs11020793
|
0.00960
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_000101.3(CYBA):c.-70G>A
|
rs72550704
|
0.00941
|
NM_001127511.3(APC):c.78C>A (p.Ser26Arg)
|
rs113782655
|
0.00928
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_006231.4(POLE):c.3265_3275+15dup
|
rs1555225627
|
0.00913
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000546.6(TP53):c.*1175A>C
|
rs78378222
|
0.00849
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)
|
rs77407094
|
0.00782
|
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)
|
rs144845223
|
0.00779
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_002878.4(RAD51D):c.-238A>T
|
rs188262287
|
0.00757
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_007294.4(BRCA1):c.*781C>T
|
rs8176319
|
0.00732
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_001142800.2(EYS):c.6726-24613G>T
|
rs151229098
|
0.00698
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_000075.4(CDK4):c.696G>A (p.Leu232=)
|
rs2227953
|
0.00692
|
NM_000075.4(CDK4):c.447A>G (p.Thr149=)
|
rs2069501
|
0.00690
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)
|
rs1805023
|
0.00690
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
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_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_001384474.1(LOXHD1):c.611-15T>C
|
rs146912450
|
0.00662
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_005732.4(RAD50):c.3037-3T>C
|
rs115737081
|
0.00627
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_005591.4(MRE11):c.2071-53G>T
|
rs13447742
|
0.00597
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
|
rs34388030
|
0.00590
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
NM_000249.4(MLH1):c.1038+51C>T
|
rs55986674
|
0.00582
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_032043.3(BRIP1):c.1141-94G>T
|
rs114901675
|
0.00573
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_000038.6(APC):c.*248A>G
|
rs186777258
|
0.00487
|
NM_005373.3(MPL):c.210G>A (p.Pro70=)
|
rs6086
|
0.00482
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)
|
rs146403122
|
0.00472
|
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)
|
rs2230017
|
0.00469
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00456
|
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)
|
rs35306212
|
0.00455
|
NM_006231.4(POLE):c.1359+18C>T
|
rs5744775
|
0.00455
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_006231.4(POLE):c.5811+16T>C
|
rs115381003
|
0.00423
|
NM_005732.4(RAD50):c.2910C>T (p.Asp970=)
|
rs148269640
|
0.00422
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_002691.4(POLD1):c.*54C>A
|
rs117012238
|
0.00414
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_014249.4(NR2E3):c.245+8C>T
|
rs9920371
|
0.00409
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_002878.4(RAD51D):c.873C>T (p.Arg291=)
|
rs140848654
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg)
|
rs559836164
|
0.00365
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000027.4(AGA):c.394+19_394+20del
|
rs575232762
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)
|
rs35800931
|
0.00325
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000520.6(HEXA):c.253+5074C>T
|
rs149661366
|
0.00322
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
NM_004168.4(SDHA):c.1664-24del
|
rs534296796
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)
|
rs146348818
|
0.00293
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000077.5(CDKN2A):c.150+216A>G
|
rs147602781
|
0.00277
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)
|
rs201208890
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00258
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000077.5(CDKN2A):c.458-491C>T
|
rs181044510
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001875.5(CPS1):c.4102-561T>C
|
rs550848657
|
0.00220
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)
|
rs146212490
|
0.00206
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys)
|
rs150956802
|
0.00200
|
NM_020975.6(RET):c.337+12G>A
|
rs200468424
|
0.00198
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_002878.4(RAD51D):c.-99T>C
|
rs533209845
|
0.00193
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_006231.4(POLE):c.5811+13C>T
|
rs150195182
|
0.00190
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_005732.4(RAD50):c.3165-8T>G
|
rs369581851
|
0.00189
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)
|
rs80356851
|
0.00183
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_000018.4(ACADVL):c.1752-36G>A
|
rs200709964
|
0.00173
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
NM_000018.4(ACADVL):c.752+24C>T
|
rs201030339
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_000251.1(MSH2):c.-179C>T
|
rs17224094
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_005732.4(RAD50):c.2091C>T (p.Val697=)
|
rs61747588
|
0.00156
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_133259.4(LRPPRC):c.3148+12C>T
|
rs199684766
|
0.00153
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_000179.3(MSH6):c.3801+21T>C
|
rs34315174
|
0.00151
|
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_058195.4(CDKN2A):c.194-3652G>C
|
rs531597737
|
0.00134
|
NM_000137.4(FAH):c.961-17G>A
|
rs372657388
|
0.00133
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_005732.4(RAD50):c.3165-4A>T
|
rs104895050
|
0.00133
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_001048174.2(MUTYH):c.-60C>T
|
rs185172591
|
0.00123
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)
|
rs140769823
|
0.00116
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_002878.4(RAD51D):c.263+1509C>T
|
rs201506572
|
0.00116
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001048174.2(MUTYH):c.914-27G>A
|
rs188830619
|
0.00113
|
NM_024675.4(PALB2):c.2834+18A>T
|
rs114491776
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_000159.4(GCDH):c.636-38G>A
|
rs138216703
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000059.4(BRCA2):c.7805+23G>A
|
rs113653200
|
0.00103
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp)
|
rs8052503
|
0.00103
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000249.4(MLH1):c.589-25G>A
|
rs188146618
|
0.00101
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp)
|
rs147959853
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000077.5(CDKN2A):c.-2G>A
|
rs191394143
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000059.4(BRCA2):c.6937+594T>G
|
rs191253965
|
0.00096
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_002691.4(POLD1):c.3120+12G>A
|
rs182231620
|
0.00094
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_015166.4(MLC1):c.177+15A>G
|
rs148099137
|
0.00092
|
NM_000314.8(PTEN):c.801+23G>A
|
rs116160352
|
0.00091
|
NM_002691.4(POLD1):c.971-19G>A
|
rs56022846
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000546.6(TP53):c.994-17C>T
|
rs368691910
|
0.00087
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000528.4(MAN2B1):c.1109+41C>A
|
rs200862799
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_000455.5(STK11):c.920+32G>A
|
rs374147918
|
0.00080
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_002691.4(POLD1):c.2565-17G>A
|
rs200576676
|
0.00078
|
NM_002878.4(RAD51D):c.263+1570T>A
|
rs376472075
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_007294.4(BRCA1):c.5278-22C>T
|
rs185646848
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)
|
rs150951106
|
0.00076
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)
|
rs149265851
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)
|
rs730880036
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_005732.4(RAD50):c.885+11G>A
|
rs117081789
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000077.5(CDKN2A):c.150+1104C>A
|
rs756102261
|
0.00069
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
NM_000159.4(GCDH):c.*101G>A
|
rs140251161
|
0.00067
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_007294.4(BRCA1):c.81-12C>G
|
rs80358055
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_000030.3(AGXT):c.*39G>A
|
rs369979466
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_001164508.2(NEB):c.23241+16C>T
|
rs75221580
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
NM_002691.4(POLD1):c.3218+17G>A
|
rs375490101
|
0.00061
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)
|
rs147641617
|
0.00059
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NR_003051.3(RMRP):n.-12A>C
|
rs372044910
|
0.00058
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001369.3(DNAH5):c.11570+124G>C
|
rs543104462
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)
|
rs914207699
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000110.4(DPYD):c.2766+19A>G
|
rs375268978
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
|
rs35762515
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
0.00053
|
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)
|
rs117656396
|
0.00053
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
NM_000035.4(ALDOB):c.799+11C>T
|
rs182245025
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_001164277.2(SLC37A4):c.985+228C>G
|
rs201997939
|
0.00050
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000059.4(BRCA2):c.631+25C>T
|
rs367871824
|
0.00048
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000110.4(DPYD):c.1524+16C>A
|
rs199469537
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_006231.4(POLE):c.63-14C>T
|
rs373998767
|
0.00048
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
NM_000383.4(AIRE):c.1567-18C>T
|
rs372108131
|
0.00047
|
NM_000426.4(LAMA2):c.6269-831C>G
|
rs371162111
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
NM_000441.2(SLC26A4):c.*51T>C
|
rs371263685
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_054012.4(ASS1):c.175-16G>T
|
rs373936572
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
NM_005732.4(RAD50):c.687del (p.Ser229fs)
|
rs760146707
|
0.00042
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)
|
rs3743088
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)
|
rs35548413
|
0.00041
|
NM_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)
|
rs201466849
|
0.00041
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
NM_025136.4(OPA3):c.-7C>G
|
rs199590627
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_003000.3(SDHB):c.287-26A>G
|
rs201397253
|
0.00040
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000329.3(RPE65):c.644-42del
|
rs61752893
|
0.00039
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000159.4(GCDH):c.636-18C>T
|
rs183109666
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000520.6(HEXA):c.1074-100T>C
|
rs868411141
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_002878.4(RAD51D):c.904-11T>A
|
rs374449943
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_000038.6(APC):c.730-22G>C
|
rs115634618
|
0.00037
|
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
|
rs144657355
|
0.00037
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
0.00036
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00036
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_000051.4(ATM):c.8010+185_8010+186del
|
rs984385407
|
0.00035
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer)
|
rs764994176
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_058195.4(CDKN2A):c.-28C>G
|
rs149253558
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_058216.3(RAD51C):c.571+16A>G
|
rs141621051
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000128.4(F11):c.1084G>A (p.Gly362Arg)
|
rs142096488
|
0.00032
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
NM_000277.3(PAH):c.969+7C>T
|
rs80324017
|
0.00032
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
NM_003001.5(SDHC):c.20+22G>C
|
rs182261879
|
0.00032
|
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)
|
rs146104321
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_000018.4(ACADVL):c.343-41C>A
|
rs368107662
|
0.00031
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
NM_000051.4(ATM):c.4612-32_4612-30del
|
rs113149503
|
0.00031
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000151.4(G6PC1):c.340+20C>T
|
rs183285298
|
0.00031
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_002691.4(POLD1):c.3121-14G>A
|
rs367766963
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_006231.4(POLE):c.5173+17A>G
|
rs368209692
|
0.00031
|
NM_007294.4(BRCA1):c.5193+22C>T
|
rs8176260
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
NM_001048174.2(MUTYH):c.116-54C>T
|
rs367908623
|
0.00030
|
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)
|
rs138936064
|
0.00030
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_001953.5(TYMP):c.1159+5G>A
|
rs748559929
|
0.00030
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000414.4(HSD17B4):c.1261+14A>G
|
rs371682983
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_002691.4(POLD1):c.3219-19C>A
|
rs374168125
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_000520.6(HEXA):c.1073+41C>T
|
rs367719010
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_000441.2(SLC26A4):c.1001+30A>G
|
rs556184448
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)
|
rs116001129
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)
|
rs121918729
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
NM_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000055.4(BCHE):c.155C>T (p.Thr52Met)
|
rs56309853
|
0.00024
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00024
|
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=)
|
rs376334860
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_014249.4(NR2E3):c.571+51C>T
|
rs200759758
|
0.00024
|
NM_014625.4(NPHS2):c.85G>A (p.Ala29Thr)
|
rs561887984
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)
|
rs374360796
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000455.5(STK11):c.290+22C>T
|
rs371255627
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_002691.4(POLD1):c.1137+16C>T
|
rs56082047
|
0.00023
|
NM_002878.4(RAD51D):c.263+1605G>A
|
rs147933658
|
0.00023
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
NM_006231.4(POLE):c.5379-19C>T
|
rs376722984
|
0.00023
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_001113525.2(ZNF276):c.*1862C>T
|
rs776077648
|
0.00022
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)
|
rs187658135
|
0.00022
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)
|
rs149867679
|
0.00022
|
NM_015166.4(MLC1):c.983G>A (p.Arg328His)
|
rs145376667
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_020975.6(RET):c.337+34C>T
|
rs368088467
|
0.00022
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00021
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)
|
rs28364528
|
0.00021
|
NM_000077.5(CDKN2A):c.458-492G>C
|
rs527814073
|
0.00021
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
NM_005591.4(MRE11):c.845+11T>C
|
rs140145979
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)
|
rs140588714
|
0.00021
|
NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)
|
rs567617489
|
0.00021
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NR_003051.3(RMRP):n.270T>C
|
rs551655682
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)
|
rs201508063
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu)
|
rs769316835
|
0.00019
|
NM_000055.4(BCHE):c.570T>C (p.Ala190=)
|
rs115463466
|
0.00019
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000075.4(CDK4):c.306A>G (p.Thr102=)
|
rs201202764
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000251.3(MSH2):c.1276+47T>A
|
rs148018406
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001164277.2(SLC37A4):c.1124+36C>G
|
rs547915912
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)
|
rs199914263
|
0.00019
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
NM_002691.4(POLD1):c.2155-8C>T
|
rs759802920
|
0.00019
|
NM_002878.4(RAD51D):c.264-14del
|
rs757481281
|
0.00019
|
NM_006231.4(POLE):c.3378+10A>G
|
rs193075152
|
0.00019
|
NM_006231.4(POLE):c.6532-19G>T
|
rs201114228
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_020975.6(RET):c.73+9278G>A
|
rs537638504
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
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_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000546.6(TP53):c.74+14T>C
|
rs184743157
|
0.00018
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001048174.2(MUTYH):c.420+16G>A
|
rs576152721
|
0.00018
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
NM_001692.4(ATP6V1B1):c.785+10C>T
|
rs76241121
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
NM_000059.4(BRCA2):c.67+17T>C
|
rs767648965
|
0.00017
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
NM_000380.4(XPA):c.683G>A (p.Arg228Gln)
|
rs1805160
|
0.00017
|
NM_000426.4(LAMA2):c.8989-12C>G
|
rs144860334
|
0.00017
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
NM_002691.4(POLD1):c.2006+16C>T
|
rs372942171
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_005359.6(SMAD4):c.904+14T>C
|
rs200973136
|
0.00017
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
NM_133259.4(LRPPRC):c.1649+11C>T
|
rs200115839
|
0.00017
|
NM_000018.4(ACADVL):c.1678+39C>G
|
rs377062362
|
0.00016
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
NM_000051.4(ATM):c.3403-16_3403-15insA
|
rs569564716
|
0.00016
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp)
|
rs557577836
|
0.00016
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000077.5(CDKN2A):c.151-14G>A
|
rs767030551
|
0.00016
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)
|
rs139026662
|
0.00016
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp)
|
rs370699820
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000232.5(SGCB):c.*18C>G
|
rs191486389
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000520.6(HEXA):c.1073+51G>A
|
rs545676277
|
0.00016
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001113525.2(ZNF276):c.*1674G>C
|
rs56216970
|
0.00016
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)
|
rs545645581
|
0.00016
|
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)
|
rs146413074
|
0.00016
|
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)
|
rs768964978
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)
|
rs144002969
|
0.00016
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_001692.4(ATP6V1B1):c.368-6C>T
|
rs200038589
|
0.00016
|
NM_003000.3(SDHB):c.642+17T>C
|
rs200597595
|
0.00016
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_014249.4(NR2E3):c.571+65C>T
|
rs538878781
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949
|
0.00016
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000235.4(LIPA):c.966+3A>T
|
rs201242614
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
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_006019.4(TCIRG1):c.148C>T (p.Arg50Cys)
|
rs370319355
|
0.00015
|
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)
|
rs372826788
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_020975.6(RET):c.2607+4C>T
|
rs200634990
|
0.00015
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_000018.4(ACADVL):c.1605+22A>G
|
rs1052646012
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)
|
rs373540400
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000159.4(GCDH):c.1244-15A>G
|
rs201407990
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000271.5(NPC1):c.3477+14C>T
|
rs56043719
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
|
rs587780993
|
0.00014
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)
|
rs145832952
|
0.00014
|
NM_001283009.2(RTEL1):c.1596-9C>T
|
rs200803729
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
0.00014
|
NM_002691.4(POLD1):c.758+8C>G
|
rs377133822
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala)
|
rs140673499
|
0.00014
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
NM_007294.4(BRCA1):c.5194-18G>T
|
rs80358090
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_020975.6(RET):c.1017G>A (p.Ser339=)
|
rs369810881
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
0.00014
|
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)
|
rs200142963
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_000016.6(ACADM):c.-17C>G
|
rs367734665
|
0.00013
|
NM_000018.4(ACADVL):c.342+25C>T
|
rs771711857
|
0.00013
|
NM_000038.6(APC):c.1548+17T>C
|
rs367690523
|
0.00013
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)
|
rs121907993
|
0.00013
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000249.4(MLH1):c.117-48A>G
|
rs377111182
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00013
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
NM_000337.5(SGCD):c.-378G>T
|
rs531296131
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
NM_000520.6(HEXA):c.253+5107G>A
|
rs748336538
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=)
|
rs370489767
|
0.00013
|
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)
|
rs375314465
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile)
|
rs765233946
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002691.4(POLD1):c.2251-8G>A
|
rs56051075
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_020975.6(RET):c.1893C>T (p.Asp631=)
|
rs55846256
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)
|
rs267608235
|
0.00012
|
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)
|
rs374684043
|
0.00012
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00012
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001048174.2(MUTYH):c.1393-17C>G
|
rs199664013
|
0.00012
|
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)
|
rs149732545
|
0.00012
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=)
|
rs201316401
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_002691.4(POLD1):c.1495-14G>A
|
rs542376819
|
0.00012
|
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met)
|
rs766509761
|
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_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)
|
rs138493864
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)
|
rs199564404
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
NM_000136.3(FANCC):c.522-4A>G
|
rs371422485
|
0.00011
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)
|
rs121918720
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=)
|
rs367622610
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)
|
rs1014454531
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001048174.2(MUTYH):c.132G>A (p.Pro44=)
|
rs144551668
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001369.3(DNAH5):c.4053+13C>T
|
rs543363871
|
0.00011
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)
|
rs559635859
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001378454.1(ALMS1):c.-16A>G
|
rs746944958
|
0.00011
|
NM_001378454.1(ALMS1):c.12114+4C>T
|
rs373191489
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=)
|
rs562434013
|
0.00011
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)
|
rs369682197
|
0.00011
|
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)
|
rs200735968
|
0.00011
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_003640.5(ELP1):c.3573-7C>G
|
rs370571926
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
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_006231.4(POLE):c.1226+13G>A
|
rs577646338
|
0.00011
|
NM_006231.4(POLE):c.4291-11G>A
|
rs369564167
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
NM_007194.4(CHEK2):c.1008+13C>T
|
rs193264230
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
NM_007294.4(BRCA1):c.5278-20C>T
|
rs193149108
|
0.00011
|
NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)
|
rs563014885
|
0.00011
|
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)
|
rs775006954
|
0.00011
|
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)
|
rs184241759
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_020975.6(RET):c.1437C>T (p.Ala479=)
|
rs576806356
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_020975.6(RET):c.337+11C>T
|
rs754967305
|
0.00011
|
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln)
|
rs387907487
|
0.00011
|
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln)
|
rs368990025
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000018.4(ACADVL):c.1751+46C>G
|
rs375203448
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000251.3(MSH2):c.-181G>A
|
rs786201698
|
0.00010
|
NM_000251.3(MSH2):c.1662-23A>G
|
rs56404027
|
0.00010
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
NM_000314.8(PTEN):c.802-54_802-16del
|
rs1028746954
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000441.2(SLC26A4):c.1804-23T>C
|
rs370827220
|
0.00010
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00010
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000492.3(CFTR):c.-165G>A
|
rs145483167
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000546.6(TP53):c.673-37C>T
|
rs374907737
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)
|
rs762180740
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001164277.2(SLC37A4):c.1124+25T>C
|
rs782603352
|
0.00010
|
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)
|
rs569831771
|
0.00010
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)
|
rs146759807
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_001378454.1(ALMS1):c.12298+14G>A
|
rs755931726
|
0.00010
|
NM_001378454.1(ALMS1):c.1433-3T>C
|
rs367710998
|
0.00010
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr)
|
rs773754661
|
0.00010
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
0.00010
|
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg)
|
rs370816148
|
0.00010
|
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)
|
rs727503151
|
0.00010
|
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=)
|
rs141969350
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00010
|
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)
|
rs149450874
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00010
|
NM_005732.4(RAD50):c.204C>T (p.His68=)
|
rs28903084
|
0.00010
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_014625.4(NPHS2):c.671G>A (p.Arg224His)
|
rs138545216
|
0.00010
|
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)
|
rs200382943
|
0.00010
|
NM_020975.6(RET):c.1879+17C>T
|
rs369920430
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer)
|
rs778770773
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln)
|
rs139997459
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_133259.4(LRPPRC):c.3901-6T>G
|
rs553466522
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
NM_000017.4(ACADS):c.989G>A (p.Arg330His)
|
rs199633532
|
0.00009
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000018.4(ACADVL):c.277+24T>C
|
rs199945418
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000038.6(APC):c.1958+10G>T
|
rs375175370
|
0.00009
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)
|
rs115017300
|
0.00009
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000152.5(GAA):c.1754+21C>T
|
rs373387713
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000251.3(MSH2):c.1276+11A>G
|
rs189015988
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000251.3(MSH2):c.367-19A>T
|
rs730881783
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys)
|
rs531650682
|
0.00009
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)
|
rs201709908
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
NM_000546.6(TP53):c.993+13G>C
|
rs369599972
|
0.00009
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001142800.2(EYS):c.1766+2598del
|
rs765911767
|
0.00009
|
NM_001164277.2(SLC37A4):c.*7T>G
|
rs369243698
|
0.00009
|
NM_001164277.2(SLC37A4):c.-504G>A
|
rs1045560610
|
0.00009
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile)
|
rs370726988
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)
|
rs761942658
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_005591.4(MRE11):c.2070+14A>C
|
rs369127675
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)
|
rs200017020
|
0.00009
|
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)
|
rs150401251
|
0.00009
|
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)
|
rs199579239
|
0.00009
|
NM_006231.4(POLE):c.2174-11G>A
|
rs111570840
|
0.00009
|
NM_006231.4(POLE):c.4005+20G>A
|
rs775205537
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00009
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
NM_020975.6(RET):c.2136+15G>A
|
rs751183869
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)
|
rs397507447
|
0.00009
|
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg)
|
rs145281185
|
0.00009
|
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)
|
rs192687061
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)
|
rs199727887
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
NM_152564.5(VPS13B):c.7950C>T (p.His2650=)
|
rs61754503
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00008
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000179.3(MSH6):c.457+19_457+20del
|
rs1491215647
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.2458+16G>A
|
rs373624698
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928
|
0.00008
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000337.6(SGCD):c.-59G>A
|
rs375477247
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)
|
rs144885874
|
0.00008
|
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)
|
rs79036642
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)
|
rs368863709
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
NM_002691.4(POLD1):c.2718-4G>A
|
rs755348897
|
0.00008
|
NM_002878.4(RAD51D):c.263+1627C>T
|
rs188981311
|
0.00008
|
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys)
|
rs570762078
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
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_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
NM_006231.4(POLE):c.3378+7G>T
|
rs755370377
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_007294.4(BRCA1):c.987T>C (p.Asn329=)
|
rs774849810
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_020975.6(RET):c.1879+13C>T
|
rs375573788
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)
|
rs753078725
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
NM_000018.4(ACADVL):c.63-31C>T
|
rs372982295
|
0.00007
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)
|
rs121908738
|
0.00007
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000038.6(APC):c.934-14C>T
|
rs778707022
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
NM_000059.4(BRCA2):c.8953+16C>T
|
rs81002892
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000128.4(F11):c.783G>C (p.Glu261Asp)
|
rs201079681
|
0.00007
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu)
|
rs200945035
|
0.00007
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000455.5(STK11):c.734+20G>A
|
rs375315233
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000551.4(VHL):c.135G>A (p.Pro45=)
|
rs773519476
|
0.00007
|
NM_001048174.2(MUTYH):c.21C>T (p.Ala7=)
|
rs201982344
|
0.00007
|
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter)
|
rs143088549
|
0.00007
|
NM_001164277.2(SLC37A4):c.626+25C>T
|
rs533221443
|
0.00007
|
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys)
|
rs148660993
|
0.00007
|
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)
|
rs375923289
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.1339-3A>C
|
rs572922738
|
0.00007
|
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=)
|
rs375011895
|
0.00007
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
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_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_020975.6(RET):c.1182C>T (p.Asn394=)
|
rs376465385
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer)
|
rs781176348
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NR_003051.3(RMRP):n.-22_-13dup
|
rs1554651507
|
0.00007
|
NR_003051.3(RMRP):n.271T>C
|
rs377349293
|
0.00007
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)
|
rs200376609
|
0.00006
|
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)
|
rs368469075
|
0.00006
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.2461G>A (p.Val821Ile)
|
rs138498551
|
0.00006
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)
|
rs374892194
|
0.00006
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000038.6(APC):c.789T>A (p.Gly263=)
|
rs767053295
|
0.00006
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)
|
rs104894552
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)
|
rs199660374
|
0.00006
|
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)
|
rs200756519
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
NM_000059.4(BRCA2):c.735A>C (p.Arg245Ser)
|
rs375790538
|
0.00006
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)
|
rs371166254
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00006
|
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)
|
rs199996641
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)
|
rs189768576
|
0.00006
|
NM_000110.4(DPYD):c.2579del (p.Gln860fs)
|
rs746991079
|
0.00006
|
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)
|
rs141044036
|
0.00006
|
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)
|
rs141798540
|
0.00006
|
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)
|
rs201894064
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000128.4(F11):c.683G>A (p.Arg228Gln)
|
rs281875246
|
0.00006
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000136.3(FANCC):c.1329+238C>T
|
rs768988593
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000155.4(GALT):c.821-46G>T
|
rs111033776
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000159.4(GCDH):c.636-24C>G
|
rs762538155
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)
|
rs63749919
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)
|
rs146794392
|
0.00006
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
NM_000249.4(MLH1):c.117-39G>A
|
rs1057517605
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00006
|
NM_000249.4(MLH1):c.954C>T (p.His318=)
|
rs146777069
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.1(MSH2):c.-182C>T
|
rs876658327
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)
|
rs752896980
|
0.00006
|
NM_000277.3(PAH):c.352+11G>C
|
rs371926082
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000314.8(PTEN):c.-111G>T
|
rs761148721
|
0.00006
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000337.6(SGCD):c.-44+11G>A
|
rs184722381
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00006
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe)
|
rs569286697
|
0.00006
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)
|
rs146525742
|
0.00006
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val)
|
rs371998143
|
0.00006
|
NM_000455.5(STK11):c.1109-21C>T
|
rs371145906
|
0.00006
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
NM_000455.5(STK11):c.920+28C>T
|
rs371039379
|
0.00006
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)
|
rs752871324
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)
|
rs372115638
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.803+23A>T
|
rs370719706
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000543.5(SMPD1):c.1497G>A (p.Val499=)
|
rs749498245
|
0.00006
|
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys)
|
rs375570126
|
0.00006
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
NM_000546.6(TP53):c.97-28T>A
|
rs200989844
|
0.00006
|
NM_000546.6(TP53):c.993+234G>A
|
rs17883348
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)
|
rs587782263
|
0.00006
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)
|
rs140812286
|
0.00006
|
NM_001127511.3(APC):c.125G>A (p.Gly42Asp)
|
rs1057517570
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)
|
rs371491059
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
NM_001164277.2(SLC37A4):c.149-16G>A
|
rs373027415
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.11872+7T>A
|
rs763235048
|
0.00006
|
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)
|
rs368146962
|
0.00006
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)
|
rs368659119
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
0.00006
|
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu)
|
rs200636395
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser)
|
rs35649068
|
0.00006
|
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=)
|
rs373657978
|
0.00006
|
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)
|
rs145196117
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile)
|
rs773180520
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)
|
rs201006221
|
0.00006
|
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg)
|
rs746234949
|
0.00006
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
NM_002878.4(RAD51D):c.263+7G>A
|
rs56218020
|
0.00006
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
0.00006
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)
|
rs750840234
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
NM_004628.5(XPC):c.*156G>A
|
rs121965092
|
0.00006
|
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)
|
rs183167499
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_005359.6(SMAD4):c.606C>G (p.Ala202=)
|
rs780665234
|
0.00006
|
NM_005359.6(SMAD4):c.667+9T>C
|
rs776523203
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)
|
rs587782895
|
0.00006
|
NM_006231.4(POLE):c.1478del (p.Leu493fs)
|
rs760070332
|
0.00006
|
NM_006231.4(POLE):c.1687-16C>G
|
rs530732187
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
|
rs397507213
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)
|
rs80357353
|
0.00006
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)
|
rs201441987
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_014215.3(INSRR):c.3397+8G>T
|
rs145596747
|
0.00006
|
NM_014249.4(NR2E3):c.45A>G (p.Ala15=)
|
rs752130237
|
0.00006
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_015166.4(MLC1):c.715-5C>A
|
rs751850836
|
0.00006
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)
|
rs751248771
|
0.00006
|
NM_020975.6(RET):c.1150C>G (p.Pro384Ala)
|
rs536298339
|
0.00006
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
NM_020975.6(RET):c.2409C>T (p.Ile803=)
|
rs535051804
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)
|
rs140656599
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)
|
rs137853826
|
0.00006
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)
|
rs746122031
|
0.00006
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)
|
rs886056062
|
0.00006
|
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)
|
rs373011028
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.2343C>T (p.Gly781=)
|
rs762082443
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)
|
rs552326056
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.6325+7390C>T
|
rs207461108
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NR_003051.4(RMRP):n.264G>T
|
rs727502774
|
0.00006
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000038.6(APC):c.532-17A>T
|
rs997606437
|
0.00005
|
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)
|
rs587781546
|
0.00005
|
NM_000038.6(APC):c.7472T>C (p.Met2491Thr)
|
rs369075403
|
0.00005
|
NM_000038.6(APC):c.7878T>G (p.Thr2626=)
|
rs757020188
|
0.00005
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.5005+14A>T
|
rs374337879
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
NM_000059.4(BRCA2):c.7007+18T>A
|
rs377471435
|
0.00005
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=)
|
rs540561728
|
0.00005
|
NM_000071.3(CBS):c.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00005
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000136.3(FANCC):c.897-8T>C
|
rs878853673
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000287.4(PEX6):c.2730G>A (p.Thr910=)
|
rs774721609
|
0.00005
|
NM_000295.5(SERPINA1):c.646+2T>C
|
rs112661131
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000349.3(STAR):c.563G>A (p.Arg188His)
|
rs61736315
|
0.00005
|
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)
|
rs104894085
|
0.00005
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000391.4(TPP1):c.1125C>T (p.Arg375=)
|
rs587780972
|
0.00005
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
0.00005
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
NM_000455.5(STK11):c.465-18G>T
|
rs587781177
|
0.00005
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000478.6(ALPL):c.649-11G>C
|
rs376565308
|
0.00005
|
NM_000481.4(AMT):c.231G>A (p.Ser77=)
|
rs779002947
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3874-4A>G
|
rs201381687
|
0.00005
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
NM_000546.6(TP53):c.782+12C>T
|
rs17881780
|
0.00005
|
NM_000551.4(VHL):c.552C>T (p.Leu184=)
|
rs779157605
|
0.00005
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)
|
rs375698433
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001164277.2(SLC37A4):c.985+290T>C
|
rs781943252
|
0.00005
|
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)
|
rs371431256
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=)
|
rs201095989
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
0.00005
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=)
|
rs376757358
|
0.00005
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00005
|
NM_001384474.1(LOXHD1):c.6050-15C>T
|
rs397517864
|
0.00005
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002691.4(POLD1):c.2717+14C>T
|
rs367945387
|
0.00005
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_003640.5(ELP1):c.3223-16C>G
|
rs372907186
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)
|
rs371904636
|
0.00005
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
NM_004628.5(XPC):c.2138G>A (p.Arg713His)
|
rs778769039
|
0.00005
|
NM_004628.5(XPC):c.877C>T (p.Arg293Ter)
|
rs373519125
|
0.00005
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005562.3(LAMC2):c.503+14G>A
|
rs372097432
|
0.00005
|
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser)
|
rs751451482
|
0.00005
|
NM_006231.4(POLE):c.4952+11T>A
|
rs779889181
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)
|
rs757377148
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)
|
rs146015192
|
0.00005
|
NM_015346.4(ZFYVE26):c.2716C>T (p.Arg906Cys)
|
rs267604033
|
0.00005
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
NM_020975.6(RET):c.1441C>G (p.Leu481Val)
|
rs767210575
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_020975.6(RET):c.337+29G>A
|
rs578158807
|
0.00005
|
NM_024312.5(GNPTAB):c.3335+6T>G
|
rs34788341
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr)
|
rs770492164
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NR_003051.3(RMRP):n.-19_-13dup
|
rs1554651506
|
0.00005
|
NR_003051.4(RMRP):n.37C>A
|
rs549085067
|
0.00005
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1679-34C>T
|
rs779439503
|
0.00004
|
NM_000018.4(ACADVL):c.278-39C>T
|
rs202244937
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)
|
rs768236474
|
0.00004
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000038.6(APC):c.2297C>T (p.Ala766Val)
|
rs200339830
|
0.00004
|
NM_000038.6(APC):c.2534G>A (p.Arg845His)
|
rs776878597
|
0.00004
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
NM_000038.6(APC):c.263G>A (p.Arg88Gln)
|
rs587780592
|
0.00004
|
NM_000038.6(APC):c.2838A>G (p.Thr946=)
|
rs142835322
|
0.00004
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.3552C>T (p.Ala1184=)
|
rs759407858
|
0.00004
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
NM_000038.6(APC):c.4416A>T (p.Val1472=)
|
rs773352404
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.531+16G>A
|
rs770126046
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys)
|
rs752604668
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.6694C>G (p.His2232Asp)
|
rs730881256
|
0.00004
|
NM_000038.6(APC):c.669A>C (p.Gln223His)
|
rs769482880
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)
|
rs143060722
|
0.00004
|
NM_000038.6(APC):c.7594C>T (p.His2532Tyr)
|
rs375080917
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
NM_000038.6(APC):c.8325G>A (p.Gly2775=)
|
rs770719841
|
0.00004
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=)
|
rs193922106
|
0.00004
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)
|
rs775903570
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle)
|
rs397507697
|
0.00004
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
rs376338226
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)
|
rs587782754
|
0.00004
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
rs587782751
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=)
|
rs80359795
|
0.00004
|
NM_000059.4(BRCA2):c.67+19T>C
|
rs587780865
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu)
|
rs767901025
|
0.00004
|
NM_000098.3(CPT2):c.62C>A (p.Pro21His)
|
rs1399429530
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000098.3(CPT2):c.99G>C (p.Gln33His)
|
rs1196469539
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)
|
rs1057516968
|
0.00004
|
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
|
rs367619008
|
0.00004
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile)
|
rs199789515
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000128.4(F11):c.1778C>T (p.Thr593Met)
|
rs145906668
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000128.4(F11):c.422C>T (p.Thr141Met)
|
rs200593979
|
0.00004
|
NM_000128.4(F11):c.723C>G (p.Phe241Leu)
|
rs281875265
|
0.00004
|
NM_000128.4(F11):c.803G>A (p.Arg268His)
|
rs201688862
|
0.00004
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000136.3(FANCC):c.1073-4G>A
|
rs147695697
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)
|
rs549712764
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)
|
rs141456457
|
0.00004
|
NM_000159.4(GCDH):c.848del (p.Leu283fs)
|
rs761491320
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00004
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.4001+10dup
|
rs730882138
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00004
|
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs)
|
rs1057516219
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000232.5(SGCB):c.429+24G>T
|
rs367761233
|
0.00004
|
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)
|
rs776472526
|
0.00004
|
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)
|
rs779712562
|
0.00004
|
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)
|
rs267607218
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
NM_000249.4(MLH1):c.381-43C>G
|
rs368847278
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000249.4(MLH1):c.579A>G (p.Ser193=)
|
rs587781038
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000251.1(MSH2):c.-225G>C
|
rs138068023
|
0.00004
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.287G>A (p.Arg96His)
|
rs63750002
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg)
|
rs1329159364
|
0.00004
|
NM_000271.5(NPC1):c.1275G>A (p.Ser425=)
|
rs190032589
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
NM_000337.6(SGCD):c.4-12C>T
|
rs727504580
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr)
|
rs751209734
|
0.00004
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)
|
rs1044429462
|
0.00004
|
NM_000359.3(TGM1):c.2066G>A (p.Arg689His)
|
rs764380548
|
0.00004
|
NM_000359.3(TGM1):c.377G>A (p.Arg126His)
|
rs200491579
|
0.00004
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000380.4(XPA):c.571C>G (p.Leu191Val)
|
rs562768588
|
0.00004
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000414.4(HSD17B4):c.113-2206T>C
|
rs541081959
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00004
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
NM_000455.5(STK11):c.432G>A (p.Pro144=)
|
rs376788924
|
0.00004
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00004
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
NM_000455.5(STK11):c.734+11C>T
|
rs773604294
|
0.00004
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
NM_000455.5(STK11):c.862+23C>T
|
rs200302435
|
0.00004
|
NM_000455.5(STK11):c.920+29G>A
|
rs191273506
|
0.00004
|
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr)
|
rs587782040
|
0.00004
|
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr)
|
rs199780731
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)
|
rs149889416
|
0.00004
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00004
|
NM_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)
|
rs768028181
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000535.6(PMS2):c.-46T>A
|
rs765248325
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His)
|
rs750345585
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
NM_000546.6(TP53):c.255T>C (p.Pro85=)
|
rs775515332
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000546.6(TP53):c.376-18dup
|
rs756417643
|
0.00004
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00004
|
NM_000546.6(TP53):c.672+15T>C
|
rs140756213
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_000546.6(TP53):c.993+227A>C
|
rs764562217
|
0.00004
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)
|
rs374175877
|
0.00004
|
NM_001048174.2(MUTYH):c.1062C>T (p.Ala354=)
|
rs778193554
|
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_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00004
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)
|
rs587778534
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001079866.2(BCS1L):c.-50+425T>C
|
rs886055625
|
0.00004
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)
|
rs140814100
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)
|
rs199565036
|
0.00004
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001164277.2(SLC37A4):c.1125-41C>T
|
rs782175115
|
0.00004
|
NM_001164277.2(SLC37A4):c.382-17C>T
|
rs1369693461
|
0.00004
|
NM_001164277.2(SLC37A4):c.626+13C>T
|
rs746096087
|
0.00004
|
NM_001164277.2(SLC37A4):c.985+248G>A
|
rs369907198
|
0.00004
|
NM_001164277.2(SLC37A4):c.986-11G>A
|
rs1487063543
|
0.00004
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys)
|
rs773265745
|
0.00004
|
NM_001283009.2(RTEL1):c.2851+52T>C
|
rs370125588
|
0.00004
|
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)
|
rs146221660
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile)
|
rs779222334
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val)
|
rs770925697
|
0.00004
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11547+16T>C
|
rs373935106
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-17A>G
|
rs762591261
|
0.00004
|
NM_001378454.1(ALMS1):c.11669-7C>A
|
rs548573570
|
0.00004
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=)
|
rs377661858
|
0.00004
|
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)
|
rs750502331
|
0.00004
|
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala)
|
rs377283762
|
0.00004
|
NM_001378454.1(ALMS1):c.1432+15G>A
|
rs376610564
|
0.00004
|
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=)
|
rs368992526
|
0.00004
|
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=)
|
rs374151754
|
0.00004
|
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala)
|
rs376991574
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.450+11T>C
|
rs763724672
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=)
|
rs190319211
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)
|
rs190445250
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp)
|
rs376892136
|
0.00004
|
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu)
|
rs369660958
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)
|
rs145536062
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001953.5(TYMP):c.215-1G>C
|
rs767245071
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002485.5(NBN):c.73G>A (p.Val25Ile)
|
rs587781748
|
0.00004
|
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup)
|
rs762942184
|
0.00004
|
NM_002691.4(POLD1):c.1383+8C>T
|
rs374719944
|
0.00004
|
NM_002691.4(POLD1):c.1383+9G>C
|
rs767098823
|
0.00004
|
NM_002691.4(POLD1):c.2007-14G>A
|
rs374710307
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_002691.4(POLD1):c.2718-5C>T
|
rs368965066
|
0.00004
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00004
|
NM_002878.4(RAD51D):c.145-14G>C
|
rs200470533
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888
|
0.00004
|
NM_003640.5(ELP1):c.1973A>G (p.His658Arg)
|
rs372151936
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003823.4(TNFRSF6B):c.*83G>A
|
rs767909940
|
0.00004
|
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg)
|
rs917853575
|
0.00004
|
NM_004004.5(GJB2):c.-259C>T
|
rs1417111166
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu)
|
rs779358271
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
NM_004168.4(SDHA):c.1432+7G>C
|
rs760526397
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.456+9C>T
|
rs200565489
|
0.00004
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)
|
rs368595543
|
0.00004
|
NM_004329.3(BMPR1A):c.1474-9A>G
|
rs372031054
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004360.4(CDH1):c.-288del
|
rs5030658
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)
|
rs757958943
|
0.00004
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00004
|
NM_004628.5(XPC):c.736C>T (p.Pro246Ser)
|
rs587778761
|
0.00004
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00004
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
|
rs756436580
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005562.3(LAMC2):c.-15C>T
|
rs762430522
|
0.00004
|
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp)
|
rs563159537
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met)
|
rs377377656
|
0.00004
|
NM_006231.4(POLE):c.1924-6T>C
|
rs755311168
|
0.00004
|
NM_006231.4(POLE):c.2174-15C>T
|
rs750771177
|
0.00004
|
NM_006231.4(POLE):c.2468+19G>A
|
rs768950827
|
0.00004
|
NM_006231.4(POLE):c.3275+16A>G
|
rs5744858
|
0.00004
|
NM_006231.4(POLE):c.3379-18C>T
|
rs1057517632
|
0.00004
|
NM_006231.4(POLE):c.4149+12C>G
|
rs566422403
|
0.00004
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
NM_006231.4(POLE):c.4952+17C>T
|
rs750268044
|
0.00004
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
NM_006231.4(POLE):c.720+16T>C
|
rs200320553
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
NM_007294.4(BRCA1):c.135-23C>T
|
rs763633355
|
0.00004
|
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)
|
rs777228325
|
0.00004
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.4358-2720G>A
|
rs183331660
|
0.00004
|
NM_007294.4(BRCA1):c.4358-2726A>G
|
rs775348455
|
0.00004
|
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)
|
rs80357022
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)
|
rs28897697
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
NM_013339.4(ALG6):c.156G>A (p.Pro52=)
|
rs751004049
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_014249.4(NR2E3):c.677G>A (p.Arg226His)
|
rs544290323
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)
|
rs201122403
|
0.00004
|
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)
|
rs200178876
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)
|
rs587780316
|
0.00004
|
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
|
rs374681194
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)
|
rs753083465
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
NM_020975.6(RET):c.1724C>T (p.Thr575Ile)
|
rs587780808
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.509C>T (p.Thr170Ile)
|
rs200547906
|
0.00004
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)
|
rs752280639
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)
|
rs368276974
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_147127.5(EVC2):c.707T>C (p.Val236Ala)
|
rs764307512
|
0.00004
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NR_003051.3(RMRP):n.-25_-3dup
|
rs1554651413
|
0.00004
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.118+18T>A
|
rs755405418
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)
|
rs796051904
|
0.00003
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp)
|
rs532174593
|
0.00003
|
NM_000017.4(ACADS):c.815G>A (p.Arg272His)
|
rs374726386
|
0.00003
|
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)
|
rs1267288663
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1332+27C>T
|
rs200161683
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1434+23G>A
|
rs759991740
|
0.00003
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
NM_000018.4(ACADVL):c.1678+24G>A
|
rs751665756
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1751+30C>T
|
rs757837505
|
0.00003
|
NM_000018.4(ACADVL):c.1752-23T>C
|
rs368009800
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG
|
rs781605283
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.1312+16T>A
|
rs376965806
|
0.00003
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
NM_000038.6(APC):c.1686G>A (p.Thr562=)
|
rs770256026
|
0.00003
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
NM_000038.6(APC):c.221-16T>C
|
rs1046591128
|
0.00003
|
NM_000038.6(APC):c.2855C>A (p.Ala952Asp)
|
rs776560257
|
0.00003
|
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)
|
rs777881096
|
0.00003
|
NM_000038.6(APC):c.296G>A (p.Arg99Gln)
|
rs199842850
|
0.00003
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00003
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
NM_000038.6(APC):c.477C>T (p.Tyr159=)
|
rs863224281
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu)
|
rs370532497
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.6945A>G (p.Gln2315=)
|
rs786201348
|
0.00003
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)
|
rs587779807
|
0.00003
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
NM_000038.6(APC):c.933+16A>G
|
rs1057517599
|
0.00003
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000048.4(ASL):c.209T>C (p.Val70Ala)
|
rs1027739421
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)
|
rs201277352
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu)
|
rs1252906835
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)
|
rs773917820
|
0.00003
|
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg)
|
rs786204547
|
0.00003
|
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)
|
rs758025913
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
|
rs115129687
|
0.00003
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)
|
rs80358520
|
0.00003
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.426-22G>T
|
rs368499005
|
0.00003
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp)
|
rs431825328
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
NM_000059.4(BRCA2):c.632-16A>C
|
rs81002905
|
0.00003
|
NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=)
|
rs373696964
|
0.00003
|
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala)
|
rs80358909
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
NM_000059.4(BRCA2):c.747T>A (p.Ser249=)
|
rs767165913
|
0.00003
|
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=)
|
rs748631472
|
0.00003
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=)
|
rs371278843
|
0.00003
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=)
|
rs80359805
|
0.00003
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)
|
rs919442493
|
0.00003
|
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)
|
rs767281996
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)
|
rs139671324
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
NM_000075.4(CDK4):c.549C>T (p.Pro183=)
|
rs778696237
|
0.00003
|
NM_000077.5(CDKN2A):c.150+40C>T
|
rs1057517604
|
0.00003
|
NM_000077.5(CDKN2A):c.458-541A>G
|
rs938889880
|
0.00003
|
NM_000082.4(ERCC8):c.399+1G>A
|
rs774047625
|
0.00003
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr)
|
rs539867676
|
0.00003
|
NM_000092.5(COL4A4):c.4091-336C>T
|
rs925971110
|
0.00003
|
NM_000092.5(COL4A4):c.4091-356_4091-355dup
|
rs1553620826
|
0.00003
|
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys)
|
rs759631057
|
0.00003
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
NM_000098.3(CPT2):c.930C>T (p.Gly310=)
|
rs371971257
|
0.00003
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser)
|
rs672601282
|
0.00003
|
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln)
|
rs138616379
|
0.00003
|
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)
|
rs147601618
|
0.00003
|
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)
|
rs141597515
|
0.00003
|
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)
|
rs547099198
|
0.00003
|
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)
|
rs1801267
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)
|
rs104893918
|
0.00003
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr)
|
rs186839348
|
0.00003
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)
|
rs745352643
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)
|
rs773905328
|
0.00003
|
NM_000128.4(F11):c.1135+5G>A
|
rs758515608
|
0.00003
|
NM_000128.4(F11):c.1716+1G>A
|
rs373297713
|
0.00003
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile)
|
rs1443680543
|
0.00003
|
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)
|
rs1030509993
|
0.00003
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000137.4(FAH):c.1195G>C (p.Asp399His)
|
rs1449927772
|
0.00003
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.157C>T (p.Arg53Trp)
|
rs752371343
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.23C>T (p.Ala8Val)
|
rs376511103
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.1059+24G>A
|
rs111033840
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000155.4(GALT):c.957C>T (p.His319=)
|
rs111033792
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
NM_000159.4(GCDH):c.636-26C>T
|
rs772762469
|
0.00003
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)
|
rs63749895
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)
|
rs587779930
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
NM_000179.3(MSH6):c.628-12C>T
|
rs752105994
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00003
|
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile)
|
rs1302190999
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)
|
rs201223111
|
0.00003
|
NM_000228.3(LAMB3):c.2137+37G>A
|
rs374527059
|
0.00003
|
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)
|
rs747809412
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
NM_000249.4(MLH1):c.884+15A>G
|
rs372817491
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000251.3(MSH2):c.2006-26dup
|
rs781614743
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000251.3(MSH2):c.943-25T>C
|
rs775155213
|
0.00003
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00003
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000255.4(MMUT):c.1677-1G>A
|
rs754369323
|
0.00003
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)
|
rs200596762
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631
|
0.00003
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534
|
0.00003
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000277.3(PAH):c.-66_-65del
|
rs997821067
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)
|
rs1445192595
|
0.00003
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000310.4(PPT1):c.2T>C (p.Met1Thr)
|
rs796052927
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000314.8(PTEN):c.635-16G>A
|
rs750772657
|
0.00003
|
NM_000317.3(PTS):c.243_243+1dup
|
rs866922524
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000337.6(SGCD):c.-43-1G>A
|
rs767016855
|
0.00003
|
NM_000337.6(SGCD):c.-44G>T
|
rs727503420
|
0.00003
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
|
rs104894090
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
NM_000359.3(TGM1):c.1609C>T (p.Arg537Trp)
|
rs943299597
|
0.00003
|
NM_000359.3(TGM1):c.2440C>T (p.Arg814Ter)
|
rs755589419
|
0.00003
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
NM_000380.3(XPA):c.-66T>G
|
rs886063218
|
0.00003
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)
|
rs763162812
|
0.00003
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000396.4(CTSK):c.120+1G>A
|
rs1057517279
|
0.00003
|
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly)
|
rs375958814
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000404.4(GLB1):c.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.6269-829A>G
|
rs758519410
|
0.00003
|
NM_000426.4(LAMA2):c.640-1G>A
|
rs1296761337
|
0.00003
|
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=)
|
rs372212378
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His)
|
rs200779286
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000455.5(STK11):c.1035C>T (p.His345=)
|
rs751619208
|
0.00003
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)
|
rs762482152
|
0.00003
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)
|
rs367657406
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)
|
rs755635209
|
0.00003
|
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)
|
rs74315271
|
0.00003
|
NM_000487.6(ARSA):c.542dup (p.Leu183fs)
|
rs776748338
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1585-19T>C
|
rs778457306
|
0.00003
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)
|
rs121909044
|
0.00003
|
NM_000492.4(CFTR):c.1680-26T>C
|
rs397508265
|
0.00003
|
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro)
|
rs374702882
|
0.00003
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)
|
rs79633941
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)
|
rs748026786
|
0.00003
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00003
|
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)
|
rs1233061680
|
0.00003
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
NM_000528.4(MAN2B1):c.2664+1G>A
|
rs771953225
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000546.6(TP53):c.180A>C (p.Pro60=)
|
rs749289195
|
0.00003
|
NM_000546.6(TP53):c.214C>G (p.Pro72Ala)
|
rs587782769
|
0.00003
|
NM_000546.6(TP53):c.30C>T (p.Val10=)
|
rs568171603
|
0.00003
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
NM_000546.6(TP53):c.993+284C>T
|
rs554738122
|
0.00003
|
NM_000551.4(VHL):c.375C>T (p.His125=)
|
rs863224372
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)
|
rs377517768
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)
|
rs759861826
|
0.00003
|
NM_001042432.2(CLN3):c.295-2A>C
|
rs1478660606
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
NM_001048174.2(MUTYH):c.914-21T>C
|
rs780013757
|
0.00003
|
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)
|
rs587778538
|
0.00003
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)
|
rs747956412
|
0.00003
|
NM_001127511.3(APC):c.130G>A (p.Ala44Thr)
|
rs367773779
|
0.00003
|
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)
|
rs770241997
|
0.00003
|
NM_001127511.3(APC):c.83G>A (p.Gly28Asp)
|
rs1057517606
|
0.00003
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_001164277.2(SLC37A4):c.-535G>C
|
rs138523194
|
0.00003
|
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=)
|
rs1310970870
|
0.00003
|
NM_001164277.2(SLC37A4):c.381+15A>G
|
rs1057520372
|
0.00003
|
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=)
|
rs1470803048
|
0.00003
|
NM_001164277.2(SLC37A4):c.986-18C>T
|
rs374784735
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn)
|
rs267598926
|
0.00003
|
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)
|
rs369419645
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)
|
rs778734749
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)
|
rs145043679
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001365088.1(SLC12A6):c.316+2dup
|
rs778694021
|
0.00003
|
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg)
|
rs187607395
|
0.00003
|
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=)
|
rs760299487
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr)
|
rs763907736
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)
|
rs28730862
|
0.00003
|
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser)
|
rs371269253
|
0.00003
|
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=)
|
rs374328093
|
0.00003
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)
|
rs367641723
|
0.00003
|
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)
|
rs371524359
|
0.00003
|
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=)
|
rs754758293
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys)
|
rs373979607
|
0.00003
|
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=)
|
rs199769789
|
0.00003
|
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala)
|
rs1193275022
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)
|
rs746145270
|
0.00003
|
NM_001378454.1(ALMS1):c.4872C>T (p.Pro1624=)
|
rs372692493
|
0.00003
|
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp)
|
rs764135516
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.7675-19G>A
|
rs1399037677
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
|
rs1213279792
|
0.00003
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
|
rs371904071
|
0.00003
|
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)
|
rs200718841
|
0.00003
|
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=)
|
rs199850691
|
0.00003
|
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser)
|
rs370622410
|
0.00003
|
NM_001378454.1(ALMS1):c.9888C>T (p.Thr3296=)
|
rs372451785
|
0.00003
|
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)
|
rs760669176
|
0.00003
|
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=)
|
rs761010290
|
0.00003
|
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=)
|
rs727503144
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)
|
rs369043488
|
0.00003
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002435.3(MPI):c.121G>A (p.Ala41Thr)
|
rs779821212
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)
|
rs779199089
|
0.00003
|
NM_002691.4(POLD1):c.1137+10G>A
|
rs367666867
|
0.00003
|
NM_002691.4(POLD1):c.1892+11C>T
|
rs376751542
|
0.00003
|
NM_002691.4(POLD1):c.2564+19C>T
|
rs1057522890
|
0.00003
|
NM_002691.4(POLD1):c.3121-9C>T
|
rs149742605
|
0.00003
|
NM_002691.4(POLD1):c.758G>A (p.Arg253Gln)
|
rs1366413924
|
0.00003
|
NM_002691.4(POLD1):c.970+12G>C
|
rs778084767
|
0.00003
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg)
|
rs546225564
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)
|
rs372499865
|
0.00003
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_003823.4(TNFRSF6B):c.*75G>A
|
rs1375849919
|
0.00003
|
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter)
|
rs747918186
|
0.00003
|
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His)
|
rs767090761
|
0.00003
|
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys)
|
rs768195916
|
0.00003
|
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His)
|
rs575430880
|
0.00003
|
NM_004004.6(GJB2):c.-7G>A
|
rs398123813
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004329.3(BMPR1A):c.198C>T (p.His66=)
|
rs150493865
|
0.00003
|
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)
|
rs747266339
|
0.00003
|
NM_004329.3(BMPR1A):c.530+12T>C
|
rs976070262
|
0.00003
|
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)
|
rs574229174
|
0.00003
|
NM_004329.3(BMPR1A):c.68-12A>G
|
rs201120747
|
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.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
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.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
NM_004360.5(CDH1):c.832+17G>C
|
rs373179391
|
0.00003
|
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu)
|
rs375859472
|
0.00003
|
NM_004628.5(XPC):c.597A>C (p.Lys199Asn)
|
rs587778759
|
0.00003
|
NM_004628.5(XPC):c.622-2A>C
|
rs201940931
|
0.00003
|
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys)
|
rs587778760
|
0.00003
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_004646.4(NPHS1):c.397+2T>C
|
rs1054950770
|
0.00003
|
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys)
|
rs950655735
|
0.00003
|
NM_004937.3(CTNS):c.461+8C>T
|
rs368822078
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_005562.3(LAMC2):c.1468+1G>T
|
rs1043996591
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg)
|
rs757186755
|
0.00003
|
NM_006231.4(POLE):c.138del (p.Leu46fs)
|
rs1555230420
|
0.00003
|
NM_006231.4(POLE):c.1641C>A (p.Leu547=)
|
rs267603387
|
0.00003
|
NM_006231.4(POLE):c.1795-14C>T
|
rs369023182
|
0.00003
|
NM_006231.4(POLE):c.2276G>A (p.Arg759His)
|
rs746774432
|
0.00003
|
NM_006231.4(POLE):c.424-10C>T
|
rs748433747
|
0.00003
|
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys)
|
rs766511597
|
0.00003
|
NM_006231.4(POLE):c.5173+10C>T
|
rs371098994
|
0.00003
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
NM_007294.4(BRCA1):c.212+21G>A
|
rs80358147
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
NM_007294.4(BRCA1):c.4185+10G>C
|
rs80358104
|
0.00003
|
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)
|
rs28897674
|
0.00003
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)
|
rs273901761
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg)
|
rs777512062
|
0.00003
|
NM_014249.4(NR2E3):c.450G>A (p.Pro150=)
|
rs746581775
|
0.00003
|
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)
|
rs759765652
|
0.00003
|
NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)
|
rs374016332
|
0.00003
|
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)
|
rs554638593
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_014625.4(NPHS2):c.795-12T>G
|
rs376637418
|
0.00003
|
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)
|
rs751767084
|
0.00003
|
NM_014625.4(NPHS2):c.948del (p.Ala317fs)
|
rs775170915
|
0.00003
|
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)
|
rs1057517090
|
0.00003
|
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
|
rs118204049
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_017739.4(POMGNT1):c.*531C>T
|
rs769094628
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020533.3(MCOLN1):c.31+1G>A
|
rs1057516246
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020975.6(RET):c.1018G>T (p.Val340Phe)
|
rs367737920
|
0.00003
|
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)
|
rs770587835
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
NM_020975.6(RET):c.1878G>A (p.Gln626=)
|
rs147692872
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2285-4T>G
|
rs376601566
|
0.00003
|
NM_020975.6(RET):c.2298G>A (p.Pro766=)
|
rs140658743
|
0.00003
|
NM_020975.6(RET):c.2392+19T>C
|
rs778745375
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.308A>G (p.His103Arg)
|
rs375390467
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)
|
rs387907483
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
NM_024675.4(PALB2):c.2208C>A (p.Ala736=)
|
rs369113809
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
rs587782217
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032520.5(GNPTG):c.742-1G>T
|
rs373976323
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
NM_054012.4(ASS1):c.190G>A (p.Val64Ile)
|
rs556297791
|
0.00003
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_058216.3(RAD51C):c.706-13C>G
|
rs747406535
|
0.00003
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
NM_133259.4(LRPPRC):c.1369+5G>A
|
rs199628926
|
0.00003
|
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)
|
rs370537508
|
0.00003
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)
|
rs758871283
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys)
|
rs767379405
|
0.00003
|
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn)
|
rs142487082
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)
|
rs1343246818
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
NM_152564.5(VPS13B):c.11745+5G>A
|
rs398124328
|
0.00003
|
NM_152564.5(VPS13B):c.1206+23T>A
|
rs745316537
|
0.00003
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_174878.3(CLRN1):c.254-2132C>T
|
rs758741442
|
0.00003
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp)
|
rs199473712
|
0.00003
|
NM_198129.4(LAMA3):c.8044-1G>T
|
rs141789403
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NR_003051.4(RMRP):n.146C>T
|
rs759632477
|
0.00003
|
NR_003051.4(RMRP):n.263C>G
|
rs533294975
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp)
|
rs369416846
|
0.00002
|
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)
|
rs199717731
|
0.00002
|
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG
|
rs1555527381
|
0.00002
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1678+22C>T
|
rs761650394
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.1752-32_1752-31del
|
rs758750087
|
0.00002
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
NM_000038.6(APC):c.280C>A (p.Arg94Ser)
|
rs550945533
|
0.00002
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)
|
rs141298709
|
0.00002
|
NM_000038.6(APC):c.5271T>C (p.Ser1757=)
|
rs752875511
|
0.00002
|
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)
|
rs529543591
|
0.00002
|
NM_000038.6(APC):c.5708A>G (p.Asn1903Ser)
|
rs750404000
|
0.00002
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)
|
rs756266694
|
0.00002
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp)
|
rs1060503281
|
0.00002
|
NM_000038.6(APC):c.835-20A>G
|
rs777546674
|
0.00002
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
NM_000048.4(ASL):c.524+2T>G
|
rs869312976
|
0.00002
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
NM_000048.4(ASL):c.918+5G>A
|
rs781331391
|
0.00002
|
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)
|
rs761064915
|
0.00002
|
NM_000051.4(ATM):c.3402+3A>G
|
rs786203688
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
NM_000051.4(ATM):c.6198+5A>G
|
rs771047560
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.7515+20A>G
|
rs80124497
|
0.00002
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
NM_000051.4(ATM):c.8268+6T>A
|
rs747153940
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00002
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)
|
rs747598704
|
0.00002
|
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter)
|
rs140080572
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=)
|
rs80359782
|
0.00002
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
NM_000059.4(BRCA2):c.183A>G (p.Leu61=)
|
rs776638534
|
0.00002
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
rs144192844
|
0.00002
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly)
|
rs398122754
|
0.00002
|
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)
|
rs759181823
|
0.00002
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)
|
rs28897719
|
0.00002
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu)
|
rs80358653
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4677T>C (p.Phe1559=)
|
rs786201540
|
0.00002
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.5214T>G (p.Thr1738=)
|
rs864622338
|
0.00002
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)
|
rs397507352
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
rs80358812
|
0.00002
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
rs398122542
|
0.00002
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
rs28897737
|
0.00002
|
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)
|
rs80358839
|
0.00002
|
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)
|
rs80358852
|
0.00002
|
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)
|
rs773211804
|
0.00002
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)
|
rs80358894
|
0.00002
|
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=)
|
rs760272304
|
0.00002
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
rs80358995
|
0.00002
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
rs80359131
|
0.00002
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly)
|
rs80359219
|
0.00002
|
NM_000059.4(BRCA2):c.9501+4A>G
|
rs81002848
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
rs80359254
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)
|
rs751429914
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.2263+14A>G
|
rs886038225
|
0.00002
|
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup)
|
rs753836989
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys)
|
rs587778185
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000077.5(CDKN2A):c.150+20C>T
|
rs550846229
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)
|
rs761518401
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup)
|
rs773268719
|
0.00002
|
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)
|
rs764451365
|
0.00002
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
NM_000092.5(COL4A4):c.4091-330T>C
|
rs774439386
|
0.00002
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln)
|
rs1131691925
|
0.00002
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)
|
rs72549305
|
0.00002
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
NM_000112.4(SLC26A2):c.2218T>A (p.Ter740Lys)
|
rs747357127
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.422+1G>A
|
rs1198472093
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_000128.4(F11):c.325+5G>T
|
rs372102736
|
0.00002
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000128.4(F11):c.682C>T (p.Arg228Ter)
|
rs752907087
|
0.00002
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000137.4(FAH):c.707-1G>A
|
rs149052294
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000153.4(GALC):c.179C>T (p.Ala60Val)
|
rs759110815
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)
|
rs536209426
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.507+10G>A
|
rs753052473
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg)
|
rs771126053
|
0.00002
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)
|
rs377722465
|
0.00002
|
NM_000179.3(MSH6):c.2508C>T (p.Asn836=)
|
rs758170249
|
0.00002
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)
|
rs587779254
|
0.00002
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
NM_000179.3(MSH6):c.321T>C (p.Pro107=)
|
rs730881823
|
0.00002
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)
|
rs587781482
|
0.00002
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp)
|
rs587779938
|
0.00002
|
NM_000179.3(MSH6):c.4000_4001+17dup
|
rs1064794929
|
0.00002
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=)
|
rs863224335
|
0.00002
|
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)
|
rs554884560
|
0.00002
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)
|
rs143370662
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000203.5(IDUA):c.946G>A (p.Val316Met)
|
rs755445369
|
0.00002
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
NM_000228.3(LAMB3):c.977del (p.His326fs)
|
rs753711190
|
0.00002
|
NM_000228.3(LAMB3):c.978del (p.Phe327fs)
|
rs763559509
|
0.00002
|
NM_000231.3(SGCG):c.196-6195C>T
|
rs207473592
|
0.00002
|
NM_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)
|
rs1365923535
|
0.00002
|
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)
|
rs749180806
|
0.00002
|
NM_000235.4(LIPA):c.538+6T>C
|
rs772236690
|
0.00002
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1510+11G>C
|
rs370675562
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000251.3(MSH2):c.1854A>G (p.Pro618=)
|
rs786203744
|
0.00002
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000251.3(MSH2):c.366+24A>G
|
rs200890440
|
0.00002
|
NM_000251.3(MSH2):c.42G>A (p.Ala14=)
|
rs374396150
|
0.00002
|
NM_000251.3(MSH2):c.438T>C (p.Gly146=)
|
rs587779161
|
0.00002
|
NM_000251.3(MSH2):c.762T>C (p.Asn254=)
|
rs587779180
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)
|
rs1238694184
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)
|
rs774333145
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000337.6(SGCD):c.-44+1G>A
|
rs959438136
|
0.00002
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000353.3(TAT):c.-12-1G>A
|
rs777389158
|
0.00002
|
NM_000353.3(TAT):c.340G>A (p.Gly114Ser)
|
rs759311161
|
0.00002
|
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter)
|
rs140000324
|
0.00002
|
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)
|
rs760429286
|
0.00002
|
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter)
|
rs773303931
|
0.00002
|
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)
|
rs121918725
|
0.00002
|
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)
|
rs771820315
|
0.00002
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
NM_000360.4(TH):c.644+1G>A
|
rs1266265578
|
0.00002
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
NM_000370.3(TTPA):c.205-2A>G
|
rs758349851
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_000380.4(XPA):c.646C>T (p.Gln216Ter)
|
rs761978351
|
0.00002
|
NM_000380.4(XPA):c.774dup (p.Lys259Ter)
|
rs752573039
|
0.00002
|
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
|
rs72547573
|
0.00002
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
|
rs72547566
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)
|
rs179363880
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
0.00002
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
NM_000404.4(GLB1):c.858C>T (p.Thr286=)
|
rs770638519
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)
|
rs371376404
|
0.00002
|
NM_000426.4(LAMA2):c.4176+1G>A
|
rs1404492484
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=)
|
rs398123382
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)
|
rs200712253
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=)
|
rs1048663788
|
0.00002
|
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)
|
rs994170964
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
NM_000455.5(STK11):c.1109-13G>A
|
rs568152768
|
0.00002
|
NM_000455.5(STK11):c.1109-14C>T
|
rs780434041
|
0.00002
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)
|
rs587782783
|
0.00002
|
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)
|
rs748464757
|
0.00002
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00002
|
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)
|
rs587781596
|
0.00002
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)
|
rs766076920
|
0.00002
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys)
|
rs374482942
|
0.00002
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
NM_000492.3(CFTR):c.-837T>C
|
rs1415964307
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.436del (p.Val146fs)
|
rs1057517174
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)
|
rs1554901851
|
0.00002
|
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg)
|
rs1193170151
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
NM_000546.6(TP53):c.234A>G (p.Ala78=)
|
rs375099397
|
0.00002
|
NM_000546.6(TP53):c.249G>A (p.Ala83=)
|
rs55754907
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.114C>T (p.Ser38=)
|
rs417164
|
0.00002
|
NM_000551.4(VHL):c.14C>T (p.Ala5Val)
|
rs755333116
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)
|
rs369299948
|
0.00002
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile)
|
rs779701238
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.441T>C (p.Ala147=)
|
rs786201352
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)
|
rs779997419
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001079866.2(BCS1L):c.-50+405A>G
|
rs898301590
|
0.00002
|
NM_001127511.3(APC):c.48T>C (p.Ser16=)
|
rs980704771
|
0.00002
|
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)
|
rs199422208
|
0.00002
|
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)
|
rs765794816
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)
|
rs779969348
|
0.00002
|
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)
|
rs199543257
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)
|
rs772521748
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001164277.2(SLC37A4):c.-530G>A
|
rs1417861590
|
0.00002
|
NM_001164277.2(SLC37A4):c.1124+18G>C
|
rs1555190434
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)
|
rs953252068
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)
|
rs745721191
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_001164277.2(SLC37A4):c.785+12A>G
|
rs976964945
|
0.00002
|
NM_001164277.2(SLC37A4):c.985+240_985+241insTA
|
rs782397393
|
0.00002
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser)
|
rs869312958
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)
|
rs773858764
|
0.00002
|
NM_001283009.2(RTEL1):c.1266+3A>G
|
rs889856101
|
0.00002
|
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)
|
rs587777037
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn)
|
rs372055524
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)
|
rs775034584
|
0.00002
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=)
|
rs771511314
|
0.00002
|
NM_001370259.2(MEN1):c.784-16C>T
|
rs754257177
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser)
|
rs770904502
|
0.00002
|
NM_001378454.1(ALMS1):c.10214-19G>A
|
rs763103896
|
0.00002
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
NM_001378454.1(ALMS1):c.10384+3A>G
|
rs752727300
|
0.00002
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
0.00002
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_001378454.1(ALMS1):c.11668+17A>G
|
rs201109126
|
0.00002
|
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=)
|
rs374909171
|
0.00002
|
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=)
|
rs750372739
|
0.00002
|
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)
|
rs377523400
|
0.00002
|
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg)
|
rs201959964
|
0.00002
|
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp)
|
rs368113488
|
0.00002
|
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)
|
rs200814417
|
0.00002
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
NM_001378454.1(ALMS1):c.1237+8C>A
|
rs771449454
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.1338+18G>A
|
rs369695595
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro)
|
rs373936479
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu)
|
rs376834704
|
0.00002
|
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)
|
rs373378385
|
0.00002
|
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys)
|
rs369228801
|
0.00002
|
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=)
|
rs376517753
|
0.00002
|
NM_001378454.1(ALMS1):c.3120T>A (p.Thr1040=)
|
rs372764773
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=)
|
rs770845249
|
0.00002
|
NM_001378454.1(ALMS1):c.450+7C>A
|
rs775200355
|
0.00002
|
NM_001378454.1(ALMS1):c.451-20T>C
|
rs762592063
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=)
|
rs535259433
|
0.00002
|
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp)
|
rs777664567
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu)
|
rs994637726
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.764+19A>G
|
rs1035974697
|
0.00002
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
0.00002
|
NM_001378454.1(ALMS1):c.7674+9G>T
|
rs1046548369
|
0.00002
|
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)
|
rs548882067
|
0.00002
|
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)
|
rs568470985
|
0.00002
|
NM_001378454.1(ALMS1):c.8928A>G (p.Val2976=)
|
rs373374154
|
0.00002
|
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr)
|
rs374259576
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=)
|
rs368408369
|
0.00002
|
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile)
|
rs551840069
|
0.00002
|
NM_001378454.1(ALMS1):c.9907+7T>G
|
rs375870610
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4368-3204C>T
|
rs375657329
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=)
|
rs876657498
|
0.00002
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)
|
rs753776604
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002435.3(MPI):c.345+26G>A
|
rs144839533
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.1124+37C>G
|
rs577575764
|
0.00002
|
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu)
|
rs767123014
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002485.5(NBN):c.2184+8G>C
|
rs730881842
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002617.4(PEX10):c.113-1G>A
|
rs867305222
|
0.00002
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002691.4(POLD1):c.1776-18C>T
|
rs775669198
|
0.00002
|
NM_002691.4(POLD1):c.2155-6C>T
|
rs112481714
|
0.00002
|
NM_002691.4(POLD1):c.2250+16C>T
|
rs768471202
|
0.00002
|
NM_002691.4(POLD1):c.2433C>T (p.Gly811=)
|
rs1051057675
|
0.00002
|
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg)
|
rs774568050
|
0.00002
|
NM_002878.4(RAD51D):c.263+1612del
|
rs750282687
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
0.00002
|
NM_003001.5(SDHC):c.*20T>G
|
rs587778662
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp)
|
rs756317669
|
0.00002
|
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=)
|
rs555469304
|
0.00002
|
NM_004004.6(GJB2):c.-22-1G>A
|
rs551625098
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)
|
rs786204597
|
0.00002
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)
|
rs730881434
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
NM_004360.5(CDH1):c.1300G>C (p.Gly434Arg)
|
rs587781783
|
0.00002
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00002
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
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.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
NM_004360.5(CDH1):c.388-4T>C
|
rs750722169
|
0.00002
|
NM_004360.5(CDH1):c.510A>G (p.Pro170=)
|
rs774962542
|
0.00002
|
NM_004360.5(CDH1):c.688-14C>T
|
rs189969617
|
0.00002
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
0.00002
|
NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)
|
rs199527751
|
0.00002
|
NM_004628.5(XPC):c.478G>T (p.Val160Leu)
|
rs587778763
|
0.00002
|
NM_004628.5(XPC):c.718C>T (p.Arg240Cys)
|
rs552222088
|
0.00002
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
NM_004646.4(NPHS1):c.822_840+6dup
|
rs779725493
|
0.00002
|
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)
|
rs763972372
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005359.6(SMAD4):c.1140-11T>A
|
rs1224777335
|
0.00002
|
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)
|
rs587780792
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005562.3(LAMC2):c.80-2A>G
|
rs771613805
|
0.00002
|
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys)
|
rs773275841
|
0.00002
|
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu)
|
rs587782166
|
0.00002
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00002
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006019.4(TCIRG1):c.1555-2A>C
|
rs758977199
|
0.00002
|
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro)
|
rs766094330
|
0.00002
|
NM_006231.4(POLE):c.3379-17G>A
|
rs907214942
|
0.00002
|
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu)
|
rs746585658
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006231.4(POLE):c.6532-11G>C
|
rs372829291
|
0.00002
|
NM_006231.4(POLE):c.850A>G (p.Lys284Glu)
|
rs568483856
|
0.00002
|
NM_006231.4(POLE):c.909+20G>A
|
rs750593090
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)
|
rs1268502139
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1462-20T>C
|
rs747767986
|
0.00002
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007294.4(BRCA1):c.-20+57G>A
|
rs556032779
|
0.00002
|
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)
|
rs41286290
|
0.00002
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)
|
rs80357029
|
0.00002
|
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)
|
rs28897684
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
NM_007294.4(BRCA1):c.4675+11A>G
|
rs750095985
|
0.00002
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)
|
rs80357341
|
0.00002
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
NM_007294.4(BRCA1):c.5074+23A>G
|
rs778115859
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)
|
rs759867616
|
0.00002
|
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)
|
rs754152768
|
0.00002
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)
|
rs80357103
|
0.00002
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)
|
rs564706097
|
0.00002
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_014249.4(NR2E3):c.264G>T (p.Gly88=)
|
rs558123422
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_014363.6(SACS):c.1A>G (p.Met1Val)
|
rs771943685
|
0.00002
|
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)
|
rs766457071
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)
|
rs200587413
|
0.00002
|
NM_014625.4(NPHS2):c.695C>T (p.Thr232Ile)
|
rs774199987
|
0.00002
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
NM_015346.4(ZFYVE26):c.274-2A>G
|
rs769329153
|
0.00002
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)
|
rs558285072
|
0.00002
|
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)
|
rs200832994
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_017739.4(POMGNT1):c.*500G>A
|
rs764840485
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018941.4(CLN8):c.543+1G>T
|
rs756267448
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.1095G>A (p.Ser365=)
|
rs201992974
|
0.00002
|
NM_020975.6(RET):c.1188G>A (p.Ser396=)
|
rs758510657
|
0.00002
|
NM_020975.6(RET):c.1264-4C>T
|
rs587780806
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.2226G>A (p.Thr742=)
|
rs762876946
|
0.00002
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)
|
rs377767422
|
0.00002
|
NM_020975.6(RET):c.2833G>A (p.Val945Met)
|
rs587780811
|
0.00002
|
NM_020975.6(RET):c.2875C>T (p.Arg959Trp)
|
rs587778658
|
0.00002
|
NM_020975.6(RET):c.2939+6C>T
|
rs181245759
|
0.00002
|
NM_020975.6(RET):c.335G>A (p.Arg112His)
|
rs587780814
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)
|
rs142025274
|
0.00002
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1839G>A (p.Gln613=)
|
rs199682414
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
NM_024675.4(PALB2):c.807T>C (p.Gly269=)
|
rs180177093
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu)
|
rs754487754
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu)
|
rs771211831
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys)
|
rs761584357
|
0.00002
|
NM_032520.5(GNPTG):c.53-2A>G
|
rs779597308
|
0.00002
|
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg)
|
rs762814533
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu)
|
rs748327367
|
0.00002
|
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)
|
rs528789830
|
0.00002
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)
|
rs372385738
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
NM_058216.3(RAD51C):c.837+14A>G
|
rs1057517644
|
0.00002
|
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)
|
rs886056064
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)
|
rs750108569
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_152564.5(VPS13B):c.8445+50del
|
rs761647040
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)
|
rs751388655
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153676.4(USH1C):c.388-8T>A
|
rs777486804
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_174878.3(CLRN1):c.254-2115del
|
rs1032160668
|
0.00002
|
NM_198129.4(LAMA3):c.1064-2A>G
|
rs756617534
|
0.00002
|
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter)
|
rs540179310
|
0.00002
|
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter)
|
rs534665666
|
0.00002
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del)
|
rs766970587
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)
|
rs727505165
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)
|
rs181961185
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NR_003051.3(RMRP):n.-22_-6dup
|
rs727502777
|
0.00002
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
NR_003051.4(RMRP):n.215C>T
|
rs772665785
|
0.00002
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
NM_000016.6(ACADM):c.1194+1G>A
|
rs769331400
|
0.00001
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.850-2A>G
|
rs761317029
|
0.00001
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
NM_000017.4(ACADS):c.1030-1G>A
|
rs1226857910
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000017.4(ACADS):c.107dup (p.Thr37fs)
|
rs750941135
|
0.00001
|
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)
|
rs796051905
|
0.00001
|
NM_000017.4(ACADS):c.1148G>A (p.Arg383His)
|
rs35233375
|
0.00001
|
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs)
|
rs1057516421
|
0.00001
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
NM_000017.4(ACADS):c.1A>G (p.Met1Val)
|
rs1291226969
|
0.00001
|
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs)
|
rs765758808
|
0.00001
|
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)
|
rs1346829948
|
0.00001
|
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)
|
rs755247580
|
0.00001
|
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)
|
rs746368198
|
0.00001
|
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala)
|
rs762083095
|
0.00001
|
NM_000017.4(ACADS):c.981_983del (p.Thr328del)
|
rs1347248007
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
0.00001
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.138+2T>C
|
rs1057516817
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1434+38G>C
|
rs763704056
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.1752-33C>T
|
rs760851448
|
0.00001
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
NM_000018.4(ACADVL):c.343-23G>A
|
rs781064781
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000022.4(ADA):c.218+1G>A
|
rs528390681
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000023.4(SGCA):c.*12+2T>C
|
rs1297436069
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)
|
rs1057516664
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
NM_000023.4(SGCA):c.956+21C>T
|
rs367690233
|
0.00001
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
NM_000027.4(AGA):c.508-2A>G
|
rs986682657
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.86del (p.Leu29fs)
|
rs764598121
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.525-1G>A
|
rs180177234
|
0.00001
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)
|
rs900220679
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)
|
rs777324536
|
0.00001
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
NM_000038.6(APC):c.1409-17T>G
|
rs764042245
|
0.00001
|
NM_000038.6(APC):c.1441G>A (p.Val481Met)
|
rs587780542
|
0.00001
|
NM_000038.6(APC):c.1744-14C>A
|
rs761403505
|
0.00001
|
NM_000038.6(APC):c.2105G>A (p.Gly702Glu)
|
rs876658289
|
0.00001
|
NM_000038.6(APC):c.2260G>T (p.Val754Phe)
|
rs764099150
|
0.00001
|
NM_000038.6(APC):c.228C>T (p.Asn76=)
|
rs766325173
|
0.00001
|
NM_000038.6(APC):c.2308T>C (p.Ser770Pro)
|
rs587781419
|
0.00001
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
NM_000038.6(APC):c.2830A>G (p.Asn944Asp)
|
rs749720558
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn)
|
rs374380039
|
0.00001
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
NM_000038.6(APC):c.3555A>G (p.Thr1185=)
|
rs786201125
|
0.00001
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)
|
rs587781637
|
0.00001
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
NM_000038.6(APC):c.3959T>A (p.Val1320Glu)
|
rs760485028
|
0.00001
|
NM_000038.6(APC):c.4005C>T (p.Ser1335=)
|
rs751729992
|
0.00001
|
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg)
|
rs1399790840
|
0.00001
|
NM_000038.6(APC):c.422+19G>C
|
rs767046355
|
0.00001
|
NM_000038.6(APC):c.4311A>G (p.Lys1437=)
|
rs371784771
|
0.00001
|
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)
|
rs587780597
|
0.00001
|
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)
|
rs756048549
|
0.00001
|
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)
|
rs730882128
|
0.00001
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
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.5108G>C (p.Gly1703Ala)
|
rs587778042
|
0.00001
|
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly)
|
rs587780598
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5283C>A (p.Asn1761Lys)
|
rs933729249
|
0.00001
|
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu)
|
rs199630012
|
0.00001
|
NM_000038.6(APC):c.5365G>C (p.Val1789Leu)
|
rs1554086666
|
0.00001
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile)
|
rs730881253
|
0.00001
|
NM_000038.6(APC):c.5805G>A (p.Gln1935=)
|
rs377040690
|
0.00001
|
NM_000038.6(APC):c.5816A>T (p.Asp1939Val)
|
rs754783550
|
0.00001
|
NM_000038.6(APC):c.5891C>T (p.Ser1964Phe)
|
rs1060503274
|
0.00001
|
NM_000038.6(APC):c.597G>A (p.Ala199=)
|
rs587780601
|
0.00001
|
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)
|
rs774815653
|
0.00001
|
NM_000038.6(APC):c.6022G>A (p.Ala2008Thr)
|
rs1343830702
|
0.00001
|
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr)
|
rs770406711
|
0.00001
|
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly)
|
rs786204043
|
0.00001
|
NM_000038.6(APC):c.6440C>T (p.Pro2147Leu)
|
rs779469633
|
0.00001
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
NM_000038.6(APC):c.646-20G>A
|
rs1057517635
|
0.00001
|
NM_000038.6(APC):c.695G>A (p.Arg232Gln)
|
rs201727026
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.7079G>T (p.Gly2360Val)
|
rs750960862
|
0.00001
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
NM_000038.6(APC):c.7396T>C (p.Ser2466Pro)
|
rs786203234
|
0.00001
|
NM_000038.6(APC):c.7533C>T (p.Leu2511=)
|
rs1057522957
|
0.00001
|
NM_000038.6(APC):c.7558G>A (p.Gly2520Arg)
|
rs746138566
|
0.00001
|
NM_000038.6(APC):c.7667C>T (p.Ser2556Leu)
|
rs761133356
|
0.00001
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
NM_000038.6(APC):c.8146G>A (p.Val2716Met)
|
rs587778044
|
0.00001
|
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys)
|
rs587782312
|
0.00001
|
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr)
|
rs863224552
|
0.00001
|
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys)
|
rs755366812
|
0.00001
|
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala)
|
rs587780608
|
0.00001
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
NM_000038.6(APC):c.934-21C>A
|
rs754906600
|
0.00001
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr)
|
rs757959356
|
0.00001
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
NM_000045.4(ARG1):c.560+5G>A
|
rs763312659
|
0.00001
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg)
|
rs866970619
|
0.00001
|
NM_000048.4(ASL):c.1026G>C (p.Val342=)
|
rs768461888
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)
|
rs771012029
|
0.00001
|
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)
|
rs752100894
|
0.00001
|
NM_000048.4(ASL):c.281G>A (p.Arg94His)
|
rs777437569
|
0.00001
|
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)
|
rs770375565
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00001
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)
|
rs759952363
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
NM_000048.4(ASL):c.839G>A (p.Gly280Glu)
|
rs1085307952
|
0.00001
|
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)
|
rs750431938
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)
|
rs1057516879
|
0.00001
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)
|
rs769653717
|
0.00001
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)
|
rs750505963
|
0.00001
|
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)
|
rs774323189
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.210A>T (p.Lys70Asn)
|
rs1064793030
|
0.00001
|
NM_000051.4(ATM):c.2207C>T (p.Ala736Val)
|
rs587780617
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2639-7T>C
|
rs912886321
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
NM_000051.4(ATM):c.4236+8T>C
|
rs765636697
|
0.00001
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
0.00001
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5319+6_5319+7del
|
rs777478613
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)
|
rs769872474
|
0.00001
|
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val)
|
rs199885813
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.6007-10A>G
|
rs373395916
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.7131T>C (p.Asp2377=)
|
rs373309822
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)
|
rs864622563
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)
|
rs1315805984
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)
|
rs1555138472
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
NM_000051.4(ATM):c.8584+6C>G
|
rs863224300
|
0.00001
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter)
|
rs1180133690
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
0.00001
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)
|
rs751798708
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)
|
rs786204643
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)
|
rs1555288410
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val)
|
rs1487547257
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile)
|
rs755851188
|
0.00001
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser)
|
rs1423701688
|
0.00001
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)
|
rs774221179
|
0.00001
|
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)
|
rs1213481140
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)
|
rs755202606
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)
|
rs1131691741
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)
|
rs1305262063
|
0.00001
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.52-1G>T
|
rs1057517351
|
0.00001
|
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)
|
rs770337031
|
0.00001
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
NM_000055.4(BCHE):c.1517+1G>T
|
rs1057517218
|
0.00001
|
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter)
|
rs1057516482
|
0.00001
|
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter)
|
rs1057517144
|
0.00001
|
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys)
|
rs116097205
|
0.00001
|
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter)
|
rs990121358
|
0.00001
|
NM_000055.4(BCHE):c.307G>C (p.Gly103Arg)
|
rs979653503
|
0.00001
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter)
|
rs747196387
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)
|
rs587779889
|
0.00001
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
NM_000059.4(BRCA2):c.-9T>C
|
rs276174802
|
0.00001
|
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)
|
rs587782100
|
0.00001
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
NM_000059.4(BRCA2):c.1197C>G (p.Thr399=)
|
rs377308954
|
0.00001
|
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=)
|
rs276174807
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)
|
rs786201654
|
0.00001
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
rs587782159
|
0.00001
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)
|
rs397507271
|
0.00001
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
0.00001
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
rs276174810
|
0.00001
|
NM_000059.4(BRCA2):c.171C>T (p.Tyr57=)
|
rs201523522
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
rs398122732
|
0.00001
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=)
|
rs755049218
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=)
|
rs535547513
|
0.00001
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
rs276174818
|
0.00001
|
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)
|
rs431825294
|
0.00001
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
rs587782158
|
0.00001
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)
|
rs587779360
|
0.00001
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
rs768143929
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)
|
rs80358508
|
0.00001
|
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile)
|
rs80358509
|
0.00001
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr)
|
rs431825303
|
0.00001
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
rs80358563
|
0.00001
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
rs80358564
|
0.00001
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
rs398122761
|
0.00001
|
NM_000059.4(BRCA2):c.3401G>C (p.Ser1134Thr)
|
rs398122764
|
0.00001
|
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)
|
rs80358587
|
0.00001
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)
|
rs80358597
|
0.00001
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
rs786203756
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=)
|
rs276174835
|
0.00001
|
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=)
|
rs141196976
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.378A>G (p.Gln126=)
|
rs786201593
|
0.00001
|
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe)
|
rs397507315
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala)
|
rs543339423
|
0.00001
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr)
|
rs80358654
|
0.00001
|
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=)
|
rs770531115
|
0.00001
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
NM_000059.4(BRCA2):c.4242G>T (p.Thr1414=)
|
rs750495335
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)
|
rs80358666
|
0.00001
|
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu)
|
rs80358668
|
0.00001
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.449A>G (p.His150Arg)
|
rs397507722
|
0.00001
|
NM_000059.4(BRCA2):c.452T>C (p.Val151Ala)
|
rs730881503
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.4658C>T (p.Thr1553Ile)
|
rs80358697
|
0.00001
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=)
|
rs750813972
|
0.00001
|
NM_000059.4(BRCA2):c.4699C>T (p.Leu1567=)
|
rs146514381
|
0.00001
|
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr)
|
rs56249050
|
0.00001
|
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)
|
rs368952892
|
0.00001
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
NM_000059.4(BRCA2):c.4858T>C (p.Leu1620=)
|
rs528771743
|
0.00001
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
0.00001
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)
|
rs80359490
|
0.00001
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
NM_000059.4(BRCA2):c.5217T>C (p.Tyr1739=)
|
rs80358746
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe)
|
rs80358748
|
0.00001
|
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)
|
rs80358750
|
0.00001
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
rs183478654
|
0.00001
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)
|
rs80358759
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)
|
rs80358762
|
0.00001
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00001
|
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)
|
rs773600818
|
0.00001
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
0.00001
|
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=)
|
rs587780658
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
rs41293501
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)
|
rs80358897
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.68-17del
|
rs752172011
|
0.00001
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.6906A>G (p.Lys2302=)
|
rs786201621
|
0.00001
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala)
|
rs80358926
|
0.00001
|
NM_000059.4(BRCA2):c.7008-25C>T
|
rs751803680
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val)
|
rs80358960
|
0.00001
|
NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr)
|
rs80358962
|
0.00001
|
NM_000059.4(BRCA2):c.7436-9C>A
|
rs398122584
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)
|
rs549269828
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7805+9T>A
|
rs768471151
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.78A>G (p.Pro26=)
|
rs772146565
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
NM_000059.4(BRCA2):c.7976+24G>A
|
rs189855685
|
0.00001
|
NM_000059.4(BRCA2):c.7977-15T>G
|
rs431825361
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)
|
rs80359060
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
rs587776472
|
0.00001
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
NM_000059.4(BRCA2):c.8488-19G>A
|
rs398122607
|
0.00001
|
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)
|
rs80359111
|
0.00001
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
rs80359119
|
0.00001
|
NM_000059.4(BRCA2):c.8667A>G (p.Ala2889=)
|
rs786203480
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)
|
rs397508009
|
0.00001
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
rs80359141
|
0.00001
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
rs587782021
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.918T>C (p.Asp306=)
|
rs184408918
|
0.00001
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
rs397507428
|
0.00001
|
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)
|
rs398122615
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
NM_000059.4(BRCA2):c.9593G>A (p.Cys3198Tyr)
|
rs587782435
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)
|
rs80359238
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=)
|
rs730881598
|
0.00001
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
NM_000059.4(BRCA2):c.9864A>G (p.Thr3288=)
|
rs778401681
|
0.00001
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
rs80359249
|
0.00001
|
NM_000059.4(BRCA2):c.9945A>G (p.Lys3315=)
|
rs752308575
|
0.00001
|
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)
|
rs567476314
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)
|
rs144220513
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)
|
rs1262587749
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
0.00001
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)
|
rs766630908
|
0.00001
|
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)
|
rs558925493
|
0.00001
|
NM_000070.3(CAPN3):c.309G>A (p.Pro103=)
|
rs376146681
|
0.00001
|
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)
|
rs774685118
|
0.00001
|
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys)
|
rs1349313665
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe)
|
rs1555421055
|
0.00001
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)
|
rs200580015
|
0.00001
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NM_000075.4(CDK4):c.355-12C>T
|
rs1004281478
|
0.00001
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg)
|
rs104894094
|
0.00001
|
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)
|
rs763269347
|
0.00001
|
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)
|
rs587781733
|
0.00001
|
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)
|
rs754195015
|
0.00001
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
NM_000082.4(ERCC8):c.1042-1G>A
|
rs897535441
|
0.00001
|
NM_000082.4(ERCC8):c.1042-2A>G
|
rs372237310
|
0.00001
|
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)
|
rs750622098
|
0.00001
|
NM_000082.4(ERCC8):c.1122+1G>A
|
rs1482664387
|
0.00001
|
NM_000082.4(ERCC8):c.1137del (p.Gln380fs)
|
rs1343747301
|
0.00001
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)
|
rs281875222
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00001
|
NM_000082.4(ERCC8):c.843+1G>T
|
rs1305258765
|
0.00001
|
NM_000091.5(COL4A3):c.145-2_145-1del
|
rs1491486533
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)
|
rs1396602090
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val)
|
rs920413118
|
0.00001
|
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)
|
rs1265432530
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.3751+1G>A
|
rs781566652
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
|
rs142093416
|
0.00001
|
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)
|
rs201648982
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)
|
rs1189502123
|
0.00001
|
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=)
|
rs780675797
|
0.00001
|
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=)
|
rs750748339
|
0.00001
|
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=)
|
rs565940301
|
0.00001
|
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu)
|
rs771916354
|
0.00001
|
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=)
|
rs1553624041
|
0.00001
|
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile)
|
rs1258564025
|
0.00001
|
NM_000092.5(COL4A4):c.4081+7T>C
|
rs779775976
|
0.00001
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
0.00001
|
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala)
|
rs1364711591
|
0.00001
|
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr)
|
rs767457222
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val)
|
rs760044982
|
0.00001
|
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)
|
rs766550724
|
0.00001
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr)
|
rs769660371
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter)
|
rs1317793581
|
0.00001
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)
|
rs755395180
|
0.00001
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)
|
rs778743524
|
0.00001
|
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn)
|
rs28936376
|
0.00001
|
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)
|
rs767004984
|
0.00001
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)
|
rs756839691
|
0.00001
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn)
|
rs183385770
|
0.00001
|
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)
|
rs1207177925
|
0.00001
|
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val)
|
rs760663364
|
0.00001
|
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)
|
rs1057516388
|
0.00001
|
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln)
|
rs267598786
|
0.00001
|
NM_000110.4(DPYD):c.3G>A (p.Met1Ile)
|
rs768020954
|
0.00001
|
NM_000110.4(DPYD):c.483+1G>T
|
rs1057516763
|
0.00001
|
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
|
rs72549310
|
0.00001
|
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)
|
rs72549307
|
0.00001
|
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)
|
rs146170505
|
0.00001
|
NM_000110.4(DPYD):c.680+1G>A
|
rs867460475
|
0.00001
|
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)
|
rs755416212
|
0.00001
|
NM_000110.4(DPYD):c.763-2A>G
|
rs1300669537
|
0.00001
|
NM_000112.4(SLC26A2):c.1922A>G (p.His641Arg)
|
rs1253691463
|
0.00001
|
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)
|
rs762137330
|
0.00001
|
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)
|
rs1419613966
|
0.00001
|
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)
|
rs769319202
|
0.00001
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.1821+1G>A
|
rs1228919836
|
0.00001
|
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)
|
rs774791374
|
0.00001
|
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)
|
rs751448793
|
0.00001
|
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met)
|
rs374470147
|
0.00001
|
NM_000124.4(ERCC6):c.2830-2A>G
|
rs373227647
|
0.00001
|
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)
|
rs771604820
|
0.00001
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)
|
rs762976316
|
0.00001
|
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)
|
rs886047039
|
0.00001
|
NM_000128.3(F11):c.-456G>A
|
rs1004061199
|
0.00001
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
NM_000128.4(F11):c.1136-7_1136-4del
|
rs1439195599
|
0.00001
|
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)
|
rs771896253
|
0.00001
|
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)
|
rs779802284
|
0.00001
|
NM_000128.4(F11):c.1253G>T (p.Gly418Val)
|
rs121965071
|
0.00001
|
NM_000128.4(F11):c.1275G>C (p.Trp425Cys)
|
rs533626812
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.1517A>G (p.Asp506Gly)
|
rs281875258
|
0.00001
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)
|
rs201007090
|
0.00001
|
NM_000128.4(F11):c.1627G>A (p.Glu543Lys)
|
rs142952627
|
0.00001
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
NM_000128.4(F11):c.1718G>A (p.Gly573Glu)
|
rs754109115
|
0.00001
|
NM_000128.4(F11):c.1789G>A (p.Glu597Lys)
|
rs281875251
|
0.00001
|
NM_000128.4(F11):c.188C>T (p.Ala63Val)
|
rs281875244
|
0.00001
|
NM_000128.4(F11):c.302A>G (p.Lys101Arg)
|
rs281875272
|
0.00001
|
NM_000128.4(F11):c.326-1G>A
|
rs1057517364
|
0.00001
|
NM_000128.4(F11):c.374A>G (p.Tyr125Cys)
|
rs1554082187
|
0.00001
|
NM_000128.4(F11):c.408C>A (p.Cys136Ter)
|
rs143648758
|
0.00001
|
NM_000128.4(F11):c.484C>T (p.Arg162Cys)
|
rs748139184
|
0.00001
|
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)
|
rs757817254
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000128.4(F11):c.680G>A (p.Gly227Asp)
|
rs1489595409
|
0.00001
|
NM_000128.4(F11):c.730C>T (p.Gln244Ter)
|
rs747702749
|
0.00001
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
NM_000128.4(F11):c.865+1G>C
|
rs1349655563
|
0.00001
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)
|
rs762526878
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)
|
rs587778316
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)
|
rs878853664
|
0.00001
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000136.3(FANCC):c.-79+1G>A
|
rs1228886763
|
0.00001
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg)
|
rs753539920
|
0.00001
|
NM_000137.4(FAH):c.1190del (p.Gln397fs)
|
rs786204551
|
0.00001
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
NM_000137.4(FAH):c.787G>A (p.Val263Met)
|
rs1168279912
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
NM_000151.4(G6PC1):c.447-1G>A
|
rs1411037881
|
0.00001
|
NM_000151.4(G6PC1):c.798del (p.Thr267fs)
|
rs749323139
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000153.2(GALC):c.-261C>A
|
rs1307710694
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.*14A>G
|
rs143444570
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)
|
rs1057516816
|
0.00001
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.195+1G>A
|
rs1009872980
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.2T>A (p.Met1Lys)
|
rs780972896
|
0.00001
|
NM_000153.4(GALC):c.328+1G>T
|
rs779701490
|
0.00001
|
NM_000153.4(GALC):c.3G>A (p.Met1Ile)
|
rs758685128
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
0.00001
|
NM_000153.4(GALC):c.621+1G>A
|
rs759511006
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln)
|
rs575139300
|
0.00001
|
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)
|
rs959842362
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.496C>G (p.Pro166Ala)
|
rs367543257
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.788G>A (p.Arg263Gln)
|
rs777023967
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)
|
rs769567764
|
0.00001
|
NM_000159.4(GCDH):c.*201A>C
|
rs1356787323
|
0.00001
|
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)
|
rs778153326
|
0.00001
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
NM_000159.4(GCDH):c.198del (p.Ile67fs)
|
rs1057517088
|
0.00001
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
0.00001
|
NM_000159.4(GCDH):c.365C>T (p.Ala122Val)
|
rs766325846
|
0.00001
|
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)
|
rs752334462
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
NM_000159.4(GCDH):c.636-1G>A
|
rs398123195
|
0.00001
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
NM_000159.4(GCDH):c.852+5G>A
|
rs886054243
|
0.00001
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)
|
rs373203481
|
0.00001
|
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)
|
rs794726972
|
0.00001
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.*5C>G
|
rs764814250
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)
|
rs751362463
|
0.00001
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)
|
rs751025203
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)
|
rs748603803
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)
|
rs863224616
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)
|
rs587779917
|
0.00001
|
NM_000179.3(MSH6):c.1677C>T (p.Cys559=)
|
rs63749893
|
0.00001
|
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)
|
rs762089407
|
0.00001
|
NM_000179.3(MSH6):c.1776A>T (p.Val592=)
|
rs56132616
|
0.00001
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)
|
rs587778532
|
0.00001
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp)
|
rs587779223
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.2035T>C (p.Leu679=)
|
rs757741943
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)
|
rs771662801
|
0.00001
|
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met)
|
rs63750304
|
0.00001
|
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)
|
rs574358605
|
0.00001
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
NM_000179.3(MSH6):c.2876G>A (p.Arg959His)
|
rs757653982
|
0.00001
|
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)
|
rs587779927
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)
|
rs730881800
|
0.00001
|
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)
|
rs786201843
|
0.00001
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)
|
rs371568610
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
NM_000179.3(MSH6):c.3438+17G>C
|
rs759737239
|
0.00001
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)
|
rs748398941
|
0.00001
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
NM_000179.3(MSH6):c.363C>T (p.Arg121=)
|
rs587779276
|
0.00001
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)
|
rs61753796
|
0.00001
|
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)
|
rs759092293
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)
|
rs730881809
|
0.00001
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
NM_000179.3(MSH6):c.458-13C>G
|
rs1057522695
|
0.00001
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)
|
rs774162322
|
0.00001
|
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)
|
rs863224629
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)
|
rs876659071
|
0.00001
|
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)
|
rs587782510
|
0.00001
|
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)
|
rs377216828
|
0.00001
|
NM_000179.3(MSH6):c.87C>G (p.Arg29=)
|
rs778354962
|
0.00001
|
NM_000179.3(MSH6):c.910G>A (p.Val304Met)
|
rs876661207
|
0.00001
|
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)
|
rs760100983
|
0.00001
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)
|
rs757884073
|
0.00001
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
NM_000199.5(SGSH):c.376dup (p.Val126fs)
|
rs1555621971
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)
|
rs1465083754
|
0.00001
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.299+1G>T
|
rs398123259
|
0.00001
|
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)
|
rs777698606
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.973-4G>A
|
rs745832717
|
0.00001
|
NM_000227.6(LAMA3):c.108del (p.Leu38fs)
|
rs1231716161
|
0.00001
|
NM_000227.6(LAMA3):c.1A>T (p.Met1Leu)
|
rs747547191
|
0.00001
|
NM_000228.3(LAMB3):c.1597+1G>T
|
rs1553277072
|
0.00001
|
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile)
|
rs886045859
|
0.00001
|
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)
|
rs759518184
|
0.00001
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
NM_000228.3(LAMB3):c.628+42G>A
|
rs587776812
|
0.00001
|
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser)
|
rs1553277846
|
0.00001
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)
|
rs772684869
|
0.00001
|
NM_000235.4(LIPA):c.1188G>A (p.Arg396=)
|
rs750001661
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)
|
rs1457072724
|
0.00001
|
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
|
rs121965086
|
0.00001
|
NM_000235.4(LIPA):c.822+1G>A
|
rs1204744283
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
NM_000249.4(MLH1):c.1039-5T>C
|
rs587782626
|
0.00001
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly)
|
rs755898663
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.144A>C (p.Gln48His)
|
rs147342421
|
0.00001
|
NM_000249.4(MLH1):c.1591G>A (p.Val531Met)
|
rs764663152
|
0.00001
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)
|
rs1289807424
|
0.00001
|
NM_000249.4(MLH1):c.1731+14C>G
|
rs745643356
|
0.00001
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+26del
|
rs1057517621
|
0.00001
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
NM_000249.4(MLH1):c.2172G>A (p.Leu724=)
|
rs780045031
|
0.00001
|
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)
|
rs63751070
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.546-18T>C
|
rs1057517622
|
0.00001
|
NM_000249.4(MLH1):c.601G>C (p.Val201Leu)
|
rs534184145
|
0.00001
|
NM_000249.4(MLH1):c.636C>T (p.Thr212=)
|
rs138735345
|
0.00001
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu)
|
rs587778447
|
0.00001
|
NM_000249.4(MLH1):c.791-14T>C
|
rs751254837
|
0.00001
|
NM_000249.4(MLH1):c.884+10C>T
|
rs864622424
|
0.00001
|
NM_000249.4(MLH1):c.884+10del
|
rs878853793
|
0.00001
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)
|
rs587782087
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000251.3(MSH2):c.1077-15G>T
|
rs753277524
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.1145G>A (p.Arg382His)
|
rs267607947
|
0.00001
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
NM_000251.3(MSH2):c.1311G>T (p.Val437=)
|
rs730881781
|
0.00001
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.1831G>A (p.Val611Met)
|
rs369385048
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
NM_000251.3(MSH2):c.2634+12T>C
|
rs372907481
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.934C>G (p.Leu312Val)
|
rs756398636
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)
|
rs1346775255
|
0.00001
|
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)
|
rs887126161
|
0.00001
|
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)
|
rs764173488
|
0.00001
|
NM_000255.4(MMUT):c.1560+1G>T
|
rs200019422
|
0.00001
|
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)
|
rs886061559
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.1957-2A>G
|
rs1554158379
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)
|
rs782313913
|
0.00001
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421
|
0.00001
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306
|
0.00001
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)
|
rs754761542
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5637-173C>T
|
rs207472020
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
0.00001
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe)
|
rs1435915496
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1948-1G>A
|
rs1555634508
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu)
|
rs752386083
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)
|
rs369098773
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.631+2T>C
|
rs1555638833
|
0.00001
|
NM_000271.5(NPC1):c.956-1G>A
|
rs756853895
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)
|
rs199475677
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.169-42T>A
|
rs281865459
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)
|
rs62507272
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)
|
rs199475589
|
0.00001
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.737C>T (p.Ala246Val)
|
rs199475610
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)
|
rs1412916235
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)
|
rs759584047
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.2806+1G>A
|
rs751900826
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)
|
rs62653610
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
0.00001
|
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn)
|
rs138070585
|
0.00001
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)
|
rs764220898
|
0.00001
|
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)
|
rs772436715
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)
|
rs1187245939
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000310.4(PPT1):c.*529_*530insATCG
|
rs1475500814
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)
|
rs796052925
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)
|
rs758542021
|
0.00001
|
NM_000314.8(PTEN):c.210-12C>T
|
rs766570103
|
0.00001
|
NM_000314.8(PTEN):c.210-17T>C
|
rs750987148
|
0.00001
|
NM_000314.8(PTEN):c.210-26A>G
|
rs776849737
|
0.00001
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.613A>G (p.Met205Val)
|
rs776763121
|
0.00001
|
NM_000314.8(PTEN):c.738G>A (p.Pro246=)
|
rs774364894
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000314.8(PTEN):c.801+8C>G
|
rs1057517630
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.289G>A (p.Val97Met)
|
rs750455879
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.315-1G>C
|
rs776543880
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)
|
rs1554584372
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
0.00001
|
NM_000349.3(STAR):c.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
NM_000349.3(STAR):c.577C>T (p.Arg193Ter)
|
rs387907235
|
0.00001
|
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser)
|
rs1183465672
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2475+19G>A
|
rs373894772
|
0.00001
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly)
|
rs149347593
|
0.00001
|
NM_000353.3(TAT):c.1223C>T (p.Thr408Met)
|
rs200815080
|
0.00001
|
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)
|
rs118203916
|
0.00001
|
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)
|
rs757879229
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.235+1G>A
|
rs748924248
|
0.00001
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)
|
rs1296165092
|
0.00001
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
NM_000359.3(TGM1):c.1184C>T (p.Thr395Ile)
|
rs372498705
|
0.00001
|
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)
|
rs397514522
|
0.00001
|
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)
|
rs886041950
|
0.00001
|
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)
|
rs147516124
|
0.00001
|
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln)
|
rs775373347
|
0.00001
|
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter)
|
rs398122904
|
0.00001
|
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)
|
rs201853046
|
0.00001
|
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)
|
rs886041250
|
0.00001
|
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)
|
rs147916609
|
0.00001
|
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)
|
rs121918716
|
0.00001
|
NM_000359.3(TGM1):c.428G>A (p.Arg143His)
|
rs121918719
|
0.00001
|
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)
|
rs778635368
|
0.00001
|
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)
|
rs1465243895
|
0.00001
|
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)
|
rs199678720
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_000359.3(TGM1):c.674G>A (p.Arg225His)
|
rs549195122
|
0.00001
|
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter)
|
rs1199770893
|
0.00001
|
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)
|
rs367699137
|
0.00001
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)
|
rs1437822062
|
0.00001
|
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)
|
rs780990272
|
0.00001
|
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)
|
rs397514525
|
0.00001
|
NM_000360.4(TH):c.1200+5G>C
|
rs774895306
|
0.00001
|
NM_000360.4(TH):c.1301C>G (p.Ser434Cys)
|
rs767211543
|
0.00001
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.749A>T (p.Glu250Val)
|
rs878855309
|
0.00001
|
NM_000360.4(TH):c.848C>T (p.Thr283Met)
|
rs121917764
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000360.4(TH):c.91-892C>T
|
rs775961364
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000380.4(XPA):c.-43G>A
|
rs886063217
|
0.00001
|
NM_000380.4(XPA):c.338_339del (p.Met113fs)
|
rs748286715
|
0.00001
|
NM_000380.4(XPA):c.642_645dup (p.Gln216fs)
|
rs764582394
|
0.00001
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
NM_000382.3(ALDH3A2):c.798+1_798+6del
|
rs1057517352
|
0.00001
|
NM_000383.4(AIRE):c.1096-1G>A
|
rs780906602
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
0.00001
|
NM_000383.4(AIRE):c.1566+2T>A
|
rs1057516985
|
0.00001
|
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)
|
rs386833673
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys)
|
rs763636007
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1552-1G>A
|
rs1057516511
|
0.00001
|
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)
|
rs1348967263
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
NM_000396.4(CTSK):c.289_290del (p.Leu97fs)
|
rs773943327
|
0.00001
|
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)
|
rs1553197383
|
0.00001
|
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)
|
rs29001685
|
0.00001
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)
|
rs1553606400
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)
|
rs780232995
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)
|
rs202007119
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
|
rs72555371
|
0.00001
|
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)
|
rs1228819238
|
0.00001
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)
|
rs1214295886
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)
|
rs778708979
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.2122-2A>G
|
rs1341761252
|
0.00001
|
NM_000414.4(HSD17B4):c.58+121A>G
|
rs775377217
|
0.00001
|
NM_000414.4(HSD17B4):c.58+123G>C
|
rs762157656
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln)
|
rs201177178
|
0.00001
|
NM_000426.4(LAMA2):c.1782+2dup
|
rs1272011145
|
0.00001
|
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)
|
rs398123369
|
0.00001
|
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)
|
rs778059153
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.2322+1G>C
|
rs945091158
|
0.00001
|
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser)
|
rs398123370
|
0.00001
|
NM_000426.4(LAMA2):c.2451-1del
|
rs767784355
|
0.00001
|
NM_000426.4(LAMA2):c.2451-6A>G
|
rs896691971
|
0.00001
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)
|
rs797045679
|
0.00001
|
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)
|
rs1441933780
|
0.00001
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
NM_000426.4(LAMA2):c.3736-2A>T
|
rs372715292
|
0.00001
|
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=)
|
rs138702650
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del)
|
rs1446213044
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)
|
rs778106503
|
0.00001
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.5072-3C>A
|
rs759155854
|
0.00001
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.6269-820A>G
|
rs544696321
|
0.00001
|
NM_000426.4(LAMA2):c.6269-855A>T
|
rs1554297879
|
0.00001
|
NM_000426.4(LAMA2):c.6269-856C>G
|
rs763589558
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000426.4(LAMA2):c.6993-2A>C
|
rs200669208
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His)
|
rs797045680
|
0.00001
|
NM_000426.4(LAMA2):c.7572+1G>A
|
rs1554305006
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)
|
rs749797580
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1342-2A>C
|
rs1413121429
|
0.00001
|
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr)
|
rs751744677
|
0.00001
|
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)
|
rs1298350213
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter)
|
rs778901860
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro)
|
rs981410021
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2090-1G>A
|
rs1455597424
|
0.00001
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-2A>G
|
rs1275029034
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-4A>C
|
rs727503432
|
0.00001
|
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)
|
rs200706874
|
0.00001
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
0.00001
|
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)
|
rs1275009555
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.501_502insCAA (p.Asn167_Gly168insGln)
|
rs758521444
|
0.00001
|
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)
|
rs111033365
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)
|
rs1446406563
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
NM_000455.5(STK11):c.1137C>T (p.His379=)
|
rs786201505
|
0.00001
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)
|
rs587782876
|
0.00001
|
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)
|
rs587782687
|
0.00001
|
NM_000455.5(STK11):c.318G>A (p.Arg106=)
|
rs777784520
|
0.00001
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
NM_000455.5(STK11):c.464+8C>T
|
rs863224669
|
0.00001
|
NM_000455.5(STK11):c.465-7C>T
|
rs864622317
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.594C>T (p.Ala198=)
|
rs772940660
|
0.00001
|
NM_000455.5(STK11):c.614C>T (p.Ala205Val)
|
rs587782468
|
0.00001
|
NM_000455.5(STK11):c.621C>T (p.Asp207=)
|
rs569380138
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000455.5(STK11):c.863-6C>T
|
rs757276643
|
0.00001
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
NM_000465.4(BARD1):c.1315-21C>A
|
rs747393586
|
0.00001
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys)
|
rs878854014
|
0.00001
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu)
|
rs148760338
|
0.00001
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)
|
rs371243939
|
0.00001
|
NM_000478.6(ALPL):c.1172G>A (p.Arg391His)
|
rs1442918125
|
0.00001
|
NM_000478.6(ALPL):c.1349G>A (p.Arg450His)
|
rs150799088
|
0.00001
|
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)
|
rs1054159992
|
0.00001
|
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)
|
rs1413274209
|
0.00001
|
NM_000478.6(ALPL):c.147C>T (p.Asn49=)
|
rs539884496
|
0.00001
|
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)
|
rs781264043
|
0.00001
|
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)
|
rs121918000
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000478.6(ALPL):c.629A>G (p.His210Arg)
|
rs748031071
|
0.00001
|
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)
|
rs199665722
|
0.00001
|
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)
|
rs786204442
|
0.00001
|
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)
|
rs786204634
|
0.00001
|
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)
|
rs1057516334
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)
|
rs199476376
|
0.00001
|
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)
|
rs375493957
|
0.00001
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)
|
rs398123414
|
0.00001
|
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)
|
rs762284875
|
0.00001
|
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)
|
rs199476345
|
0.00001
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
|
rs74315470
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)
|
rs199476384
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)
|
rs199476386
|
0.00001
|
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)
|
rs74315473
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
NM_000492.4(CFTR):c.-602A>T
|
rs879620559
|
0.00001
|
NM_000492.4(CFTR):c.1117-31A>G
|
rs1554381590
|
0.00001
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His)
|
rs778175128
|
0.00001
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu)
|
rs397508302
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2815C>G (p.His939Asp)
|
rs397508439
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.290T>C (p.Val97Ala)
|
rs1235363099
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr)
|
rs397508555
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser)
|
rs1554394076
|
0.00001
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.3874-14C>G
|
rs184271150
|
0.00001
|
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)
|
rs397508643
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
NM_000492.4(CFTR):c.489+25A>G
|
rs531830892
|
0.00001
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+25A>G
|
rs1554380840
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000492.4(CFTR):c.913T>G (p.Phe305Val)
|
rs201885470
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
0.00001
|
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)
|
rs1412048304
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)
|
rs367634557
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)
|
rs772733691
|
0.00001
|
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg)
|
rs757389720
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)
|
rs387907572
|
0.00001
|
NM_000497.4(CYP11B1):c.955-1G>A
|
rs1456715954
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1074-86G>A
|
rs1050913691
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)
|
rs749368995
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)
|
rs28940871
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.1421+13G>A
|
rs375201437
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.253+1G>A
|
rs770093080
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile)
|
rs1273494297
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)
|
rs781493030
|
0.00001
|
NM_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
NM_000520.6(HEXA):c.749G>T (p.Gly250Val)
|
rs121907959
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)
|
rs749646826
|
0.00001
|
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)
|
rs768218036
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.512-3C>A
|
rs1376742145
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)
|
rs750689750
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000528.4(MAN2B1):c.-19A>G
|
rs886054234
|
0.00001
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)
|
rs1290585382
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)
|
rs750173812
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn)
|
rs864621976
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.705+13G>A
|
rs776790763
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)
|
rs1402734026
|
0.00001
|
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)
|
rs1554935371
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)
|
rs750433951
|
0.00001
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.1023C>T (p.Phe341=)
|
rs864622369
|
0.00001
|
NM_000546.6(TP53):c.1136G>A (p.Arg379His)
|
rs863224682
|
0.00001
|
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)
|
rs1060501196
|
0.00001
|
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)
|
rs587782776
|
0.00001
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
NM_000546.6(TP53):c.222C>T (p.Ala74=)
|
rs786201577
|
0.00001
|
NM_000546.6(TP53):c.250G>A (p.Ala84Thr)
|
rs587781307
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.399G>A (p.Met133Ile)
|
rs1064795139
|
0.00001
|
NM_000546.6(TP53):c.408A>G (p.Gln136=)
|
rs758781593
|
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.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)
|
rs587778718
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.74+9A>C
|
rs1057517593
|
0.00001
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.877G>T (p.Gly293Trp)
|
rs587780076
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000546.6(TP53):c.97-15T>C
|
rs1555526843
|
0.00001
|
NM_000546.6(TP53):c.993+290T>C
|
rs1642789
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.1A>T (p.Met1Leu)
|
rs1060503557
|
0.00001
|
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)
|
rs200885420
|
0.00001
|
NM_000551.4(VHL):c.258C>G (p.Pro86=)
|
rs781063331
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.416C>G (p.Ser139Cys)
|
rs587780732
|
0.00001
|
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)
|
rs778205243
|
0.00001
|
NM_000551.4(VHL):c.71G>A (p.Gly24Asp)
|
rs878854129
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1082+1G>C
|
rs751112302
|
0.00001
|
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)
|
rs777393482
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3259+3A>T
|
rs748859491
|
0.00001
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.83-17_83-16del
|
rs751326594
|
0.00001
|
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)
|
rs755747010
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)
|
rs747389432
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)
|
rs59428328
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter)
|
rs1317833419
|
0.00001
|
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)
|
rs762067626
|
0.00001
|
NM_001039958.2(MESP2):c.885G>C (p.Thr295=)
|
rs761196555
|
0.00001
|
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)
|
rs766664800
|
0.00001
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)
|
rs587780084
|
0.00001
|
NM_001048174.2(MUTYH):c.1222C>G (p.Leu408Val)
|
rs587782043
|
0.00001
|
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)
|
rs199575659
|
0.00001
|
NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=)
|
rs768239149
|
0.00001
|
NM_001048174.2(MUTYH):c.138G>A (p.Glu46=)
|
rs376861118
|
0.00001
|
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His)
|
rs587782794
|
0.00001
|
NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu)
|
rs780209880
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
0.00001
|
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)
|
rs200747973
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=)
|
rs730881836
|
0.00001
|
NM_001048174.2(MUTYH):c.305-7C>A
|
rs863224698
|
0.00001
|
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)
|
rs201103359
|
0.00001
|
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp)
|
rs773674701
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln)
|
rs758567247
|
0.00001
|
NM_001048174.2(MUTYH):c.492+20G>A
|
rs776504435
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
NM_001048174.2(MUTYH):c.592A>G (p.Ile198Val)
|
rs200965879
|
0.00001
|
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)
|
rs369854269
|
0.00001
|
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val)
|
rs587782764
|
0.00001
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
NM_001048174.2(MUTYH):c.798C>T (p.Arg266=)
|
rs587780750
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001048174.2(MUTYH):c.914-8G>A
|
rs757672024
|
0.00001
|
NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu)
|
rs587781601
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter)
|
rs550497120
|
0.00001
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)
|
rs775793638
|
0.00001
|
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)
|
rs779331797
|
0.00001
|
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)
|
rs1057516255
|
0.00001
|
NM_001079866.2(BCS1L):c.889+1G>T
|
rs1057516346
|
0.00001
|
NM_001127511.3(APC):c.-12T>C
|
rs1057517554
|
0.00001
|
NM_001127511.3(APC):c.122C>T (p.Pro41Leu)
|
rs1057517584
|
0.00001
|
NM_001127511.3(APC):c.149G>C (p.Trp50Ser)
|
rs1366978080
|
0.00001
|
NM_001127511.3(APC):c.3G>A (p.Met1Ile)
|
rs1057517567
|
0.00001
|
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu)
|
rs587781374
|
0.00001
|
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)
|
rs587780747
|
0.00001
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)
|
rs794727119
|
0.00001
|
NM_001130987.2(DYSF):c.1576+18T>C
|
rs768373625
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)
|
rs759675023
|
0.00001
|
NM_001130987.2(DYSF):c.2698-2A>G
|
rs1420930684
|
0.00001
|
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)
|
rs398123775
|
0.00001
|
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)
|
rs535323489
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)
|
rs576460368
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=)
|
rs143393575
|
0.00001
|
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
|
rs763674597
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4528-2A>G
|
rs1213965862
|
0.00001
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)
|
rs1280185461
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)
|
rs1258728780
|
0.00001
|
NM_001142800.2(EYS):c.2260-2dup
|
rs1554220492
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001164277.2(SLC37A4):c.*1A>G
|
rs782422570
|
0.00001
|
NM_001164277.2(SLC37A4):c.-499C>T
|
rs1236559416
|
0.00001
|
NM_001164277.2(SLC37A4):c.-522G>A
|
rs1375919926
|
0.00001
|
NM_001164277.2(SLC37A4):c.-527C>T
|
rs1290401578
|
0.00001
|
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)
|
rs1474838395
|
0.00001
|
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)
|
rs946752823
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+49C>T
|
rs782799385
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+8T>C
|
rs377506675
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-29G>A
|
rs1262126192
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-44G>A
|
rs1256742179
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-53G>A
|
rs1555190416
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)
|
rs1157093654
|
0.00001
|
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)
|
rs1555190374
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-23C>T
|
rs1283313486
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-6C>G
|
rs1407509189
|
0.00001
|
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)
|
rs1555191621
|
0.00001
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)
|
rs193302885
|
0.00001
|
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)
|
rs782578166
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)
|
rs782358834
|
0.00001
|
NM_001164277.2(SLC37A4):c.382-16G>A
|
rs778665353
|
0.00001
|
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)
|
rs1438731101
|
0.00001
|
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)
|
rs777627677
|
0.00001
|
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)
|
rs764654621
|
0.00001
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
NM_001164277.2(SLC37A4):c.626+12C>T
|
rs549251533
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001164277.2(SLC37A4):c.785+13T>C
|
rs1351380633
|
0.00001
|
NM_001164277.2(SLC37A4):c.785+16G>A
|
rs1283553362
|
0.00001
|
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)
|
rs1555191906
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=)
|
rs369860234
|
0.00001
|
NM_001164277.2(SLC37A4):c.871+7G>A
|
rs782177602
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-16G>A
|
rs766656496
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)
|
rs763008231
|
0.00001
|
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)
|
rs1555190738
|
0.00001
|
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)
|
rs957014690
|
0.00001
|
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)
|
rs955402383
|
0.00001
|
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=)
|
rs782234184
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+195C>T
|
rs1189232257
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+217C>T
|
rs1213577149
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+226C>T
|
rs959584744
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+245C>T
|
rs1348642148
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+246G>A
|
rs1314659619
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+259G>C
|
rs1384684015
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+270C>T
|
rs782800127
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+271A>C
|
rs1313690608
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+276G>A
|
rs1555190629
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+283A>G
|
rs1009983005
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+295G>A
|
rs1208499204
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-12T>C
|
rs1180556897
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)
|
rs782282206
|
0.00001
|
NM_001164508.2(NEB):c.11076+1G>A
|
rs1460365350
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.1365+2T>C
|
rs770797137
|
0.00001
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
NM_001164508.2(NEB):c.1470+2dup
|
rs1477702016
|
0.00001
|
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle)
|
rs746163908
|
0.00001
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.22696-1G>A
|
rs745511810
|
0.00001
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser)
|
rs1232744915
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
0.00001
|
NM_001164508.2(NEB):c.2415+2T>C
|
rs1057517399
|
0.00001
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001164508.2(NEB):c.24300+1G>A
|
rs1366853918
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA
|
rs1357452519
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)
|
rs1287246452
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001283009.2(RTEL1):c.1037+1G>T
|
rs895722334
|
0.00001
|
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn)
|
rs755129499
|
0.00001
|
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn)
|
rs781231332
|
0.00001
|
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)
|
rs377024903
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)
|
rs797045923
|
0.00001
|
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=)
|
rs368388044
|
0.00001
|
NM_001283009.2(RTEL1):c.396-48G>A
|
rs1274609500
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)
|
rs560281693
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)
|
rs1354718634
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)
|
rs104886035
|
0.00001
|
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg)
|
rs373352413
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)
|
rs121912195
|
0.00001
|
NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr)
|
rs763333510
|
0.00001
|
NM_001360.3(DHCR7):c.413-2A>G
|
rs775575609
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn)
|
rs368269558
|
0.00001
|
NM_001360.3(DHCR7):c.626+1G>T
|
rs1471145742
|
0.00001
|
NM_001360.3(DHCR7):c.627-1G>A
|
rs1057517210
|
0.00001
|
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp)
|
rs769583377
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)
|
rs373121544
|
0.00001
|
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)
|
rs777248132
|
0.00001
|
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)
|
rs756564881
|
0.00001
|
NM_001360.3(DHCR7):c.831+2T>A
|
rs1057516920
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)
|
rs774187452
|
0.00001
|
NM_001365088.1(SLC12A6):c.2043-2A>G
|
rs1372841592
|
0.00001
|
NM_001365088.1(SLC12A6):c.271+17732A>G
|
rs781478530
|
0.00001
|
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)
|
rs1057516262
|
0.00001
|
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile)
|
rs759559343
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001378454.1(ALMS1):c.-19C>T
|
rs1553396078
|
0.00001
|
NM_001378454.1(ALMS1):c.-20G>A
|
rs935547269
|
0.00001
|
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)
|
rs746923506
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+10T>C
|
rs752454047
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
NM_001378454.1(ALMS1):c.10079-10G>A
|
rs778996015
|
0.00001
|
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr)
|
rs145678202
|
0.00001
|
NM_001378454.1(ALMS1):c.10213+11T>C
|
rs1553416883
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu)
|
rs1170663588
|
0.00001
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg)
|
rs1288339942
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln)
|
rs188864796
|
0.00001
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp)
|
rs369256893
|
0.00001
|
NM_001378454.1(ALMS1):c.11457C>T (p.Tyr3819=)
|
rs373397289
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)
|
rs376255515
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+13A>G
|
rs753246208
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+4C>T
|
rs753353269
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-12C>T
|
rs774970704
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-14A>G
|
rs768036112
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>A
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser)
|
rs369008610
|
0.00001
|
NM_001378454.1(ALMS1):c.11873-11G>A
|
rs571456553
|
0.00001
|
NM_001378454.1(ALMS1):c.11873-6C>T
|
rs749542120
|
0.00001
|
NM_001378454.1(ALMS1):c.1188G>A (p.Gln396=)
|
rs368655814
|
0.00001
|
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)
|
rs185423930
|
0.00001
|
NM_001378454.1(ALMS1):c.12114+12T>C
|
rs377393930
|
0.00001
|
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys)
|
rs1270753573
|
0.00001
|
NM_001378454.1(ALMS1):c.12298+7C>T
|
rs1252100215
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
NM_001378454.1(ALMS1):c.12363-14G>A
|
rs377374398
|
0.00001
|
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp)
|
rs763519566
|
0.00001
|
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=)
|
rs374020124
|
0.00001
|
NM_001378454.1(ALMS1):c.12462+10T>C
|
rs748315200
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser)
|
rs267599450
|
0.00001
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+7A>G
|
rs1468328132
|
0.00001
|
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=)
|
rs372610345
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=)
|
rs377037998
|
0.00001
|
NM_001378454.1(ALMS1):c.1854C>T (p.Thr618=)
|
rs1327400351
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys)
|
rs771496254
|
0.00001
|
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly)
|
rs1446915143
|
0.00001
|
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys)
|
rs377000488
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln)
|
rs370978261
|
0.00001
|
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)
|
rs368270850
|
0.00001
|
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)
|
rs949198387
|
0.00001
|
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val)
|
rs200704524
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)
|
rs1045405319
|
0.00001
|
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile)
|
rs1240072348
|
0.00001
|
NM_001378454.1(ALMS1):c.324+10G>C
|
rs778690416
|
0.00001
|
NM_001378454.1(ALMS1):c.325-6T>C
|
rs760582213
|
0.00001
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3324A>G (p.Gln1108=)
|
rs780391682
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser)
|
rs777259139
|
0.00001
|
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)
|
rs377354387
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.450+3A>G
|
rs1371008925
|
0.00001
|
NM_001378454.1(ALMS1):c.451-19T>C
|
rs768590349
|
0.00001
|
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro)
|
rs368273962
|
0.00001
|
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)
|
rs1414087888
|
0.00001
|
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=)
|
rs371708421
|
0.00001
|
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr)
|
rs371903967
|
0.00001
|
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg)
|
rs372540975
|
0.00001
|
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val)
|
rs760829019
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5199A>G (p.Gln1733=)
|
rs374143515
|
0.00001
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=)
|
rs372017680
|
0.00001
|
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)
|
rs375830111
|
0.00001
|
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys)
|
rs372714431
|
0.00001
|
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile)
|
rs373489525
|
0.00001
|
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val)
|
rs545488125
|
0.00001
|
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg)
|
rs376161519
|
0.00001
|
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=)
|
rs373438786
|
0.00001
|
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu)
|
rs372116790
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr)
|
rs374673974
|
0.00001
|
NM_001378454.1(ALMS1):c.647-5T>C
|
rs913268523
|
0.00001
|
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=)
|
rs189124891
|
0.00001
|
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)
|
rs1200119538
|
0.00001
|
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg)
|
rs145953016
|
0.00001
|
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile)
|
rs371544118
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6966C>T (p.Phe2322=)
|
rs370287018
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val)
|
rs368310126
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.72G>A (p.Glu24=)
|
rs1483677896
|
0.00001
|
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.7541-15A>G
|
rs1169514054
|
0.00001
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.764+14T>C
|
rs1553400457
|
0.00001
|
NM_001378454.1(ALMS1):c.764+4G>A
|
rs1167438151
|
0.00001
|
NM_001378454.1(ALMS1):c.765-16A>G
|
rs765256601
|
0.00001
|
NM_001378454.1(ALMS1):c.7675-2A>G
|
rs748477695
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val)
|
rs199831059
|
0.00001
|
NM_001378454.1(ALMS1):c.7743C>T (p.Ser2581=)
|
rs370740871
|
0.00001
|
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)
|
rs754078506
|
0.00001
|
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)
|
rs200859630
|
0.00001
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln)
|
rs185447739
|
0.00001
|
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys)
|
rs1248081824
|
0.00001
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln)
|
rs772197358
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)
|
rs376206840
|
0.00001
|
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His)
|
rs765685958
|
0.00001
|
NM_001378454.1(ALMS1):c.9782-13T>G
|
rs530508947
|
0.00001
|
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=)
|
rs757139660
|
0.00001
|
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)
|
rs375515965
|
0.00001
|
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys)
|
rs200826787
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+14A>G
|
rs1402624178
|
0.00001
|
NM_001378454.1(ALMS1):c.9907+17A>C
|
rs772675597
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del
|
rs1554821194
|
0.00001
|
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)
|
rs770416107
|
0.00001
|
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter)
|
rs1198732380
|
0.00001
|
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)
|
rs1554814611
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu)
|
rs1217234229
|
0.00001
|
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile)
|
rs866017859
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)
|
rs398122974
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1248+1G>C
|
rs1553420702
|
0.00001
|
NM_001875.5(CPS1):c.1263+5G>C
|
rs1275489342
|
0.00001
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)
|
rs1553509297
|
0.00001
|
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)
|
rs1388955593
|
0.00001
|
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)
|
rs754706559
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser)
|
rs757059355
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)
|
rs1553516442
|
0.00001
|
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)
|
rs749238466
|
0.00001
|
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)
|
rs770471782
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)
|
rs750670270
|
0.00001
|
NM_001875.5(CPS1):c.4102-563G>A
|
rs207462825
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)
|
rs973321068
|
0.00001
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NM_001918.5(DBT):c.*358A>C
|
rs1553228540
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)
|
rs767760099
|
0.00001
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.1A>G (p.Met1Val)
|
rs528828174
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)
|
rs369049359
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)
|
rs200564603
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
0.00001
|
NM_002485.5(NBN):c.2071-4A>G
|
rs746994234
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
NM_002485.5(NBN):c.37+7G>A
|
rs372850559
|
0.00001
|
NM_002485.5(NBN):c.38-7A>G
|
rs863224392
|
0.00001
|
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)
|
rs543852763
|
0.00001
|
NM_002485.5(NBN):c.483A>G (p.Thr161=)
|
rs758276775
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)
|
rs1425486695
|
0.00001
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002617.4(PEX10):c.776+2T>C
|
rs1335685844
|
0.00001
|
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)
|
rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
|
rs758250423
|
0.00001
|
NM_002617.4(PEX10):c.977G>A (p.Arg326His)
|
rs140890506
|
0.00001
|
NM_002691.4(POLD1):c.1514G>A (p.Arg505His)
|
rs1043752384
|
0.00001
|
NM_002691.4(POLD1):c.1686+11G>A
|
rs534413213
|
0.00001
|
NM_002691.4(POLD1):c.1776-19G>A
|
rs772329761
|
0.00001
|
NM_002691.4(POLD1):c.2007-15C>T
|
rs769431445
|
0.00001
|
NM_002691.4(POLD1):c.2154+4G>A
|
rs373416476
|
0.00001
|
NM_002691.4(POLD1):c.2251-4G>A
|
rs768364989
|
0.00001
|
NM_002691.4(POLD1):c.2565-13C>T
|
rs559638270
|
0.00001
|
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr)
|
rs555452657
|
0.00001
|
NM_002691.4(POLD1):c.2821-4G>A
|
rs369042179
|
0.00001
|
NM_002691.4(POLD1):c.3068-13C>T
|
rs575387524
|
0.00001
|
NM_002691.4(POLD1):c.317-2A>G
|
rs761230747
|
0.00001
|
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)
|
rs368033860
|
0.00001
|
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)
|
rs377690809
|
0.00001
|
NM_002691.4(POLD1):c.590-2A>G
|
rs758877520
|
0.00001
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
NM_002878.4(RAD51D):c.198G>T (p.Val66=)
|
rs200810304
|
0.00001
|
NM_002878.4(RAD51D):c.286G>T (p.Gly96Cys)
|
rs762951311
|
0.00001
|
NM_002878.4(RAD51D):c.433C>T (p.Arg145Cys)
|
rs755173206
|
0.00001
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_002878.4(RAD51D):c.739-10T>C
|
rs199998187
|
0.00001
|
NM_002878.4(RAD51D):c.739-3C>T
|
rs1235042092
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)
|
rs781330134
|
0.00001
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
NM_003060.4(SLC22A5):c.1587-1G>C
|
rs766398620
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.498-1G>C
|
rs747592919
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003640.5(ELP1):c.1461-1G>A
|
rs539544212
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003640.5(ELP1):c.1542C>T (p.Phe514=)
|
rs267602078
|
0.00001
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901
|
0.00001
|
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)
|
rs886063345
|
0.00001
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
NM_003640.5(ELP1):c.552+1G>T
|
rs765572951
|
0.00001
|
NM_003823.4(TNFRSF6B):c.*10C>T
|
rs766685059
|
0.00001
|
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr)
|
rs750153793
|
0.00001
|
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys)
|
rs753653499
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr)
|
rs1373154561
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)
|
rs766975999
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
0.00001
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)
|
rs372178531
|
0.00001
|
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)
|
rs759014147
|
0.00001
|
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)
|
rs143248687
|
0.00001
|
NM_004329.3(BMPR1A):c.676-3A>C
|
rs587782760
|
0.00001
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
NM_004360.5(CDH1):c.1090A>T (p.Thr364Ser)
|
rs778868539
|
0.00001
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_004360.5(CDH1):c.1266A>G (p.Gln422=)
|
rs776805501
|
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.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)
|
rs779648243
|
0.00001
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
NM_004360.5(CDH1):c.2440-6del
|
rs745901278
|
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.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004360.5(CDH1):c.582C>T (p.Gly194=)
|
rs786202924
|
0.00001
|
NM_004360.5(CDH1):c.867G>A (p.Ala289=)
|
rs754143182
|
0.00001
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
NM_004628.5(XPC):c.1229A>G (p.Glu410Gly)
|
rs587778762
|
0.00001
|
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)
|
rs771891932
|
0.00001
|
NM_004628.5(XPC):c.2033+4C>T
|
rs753195190
|
0.00001
|
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala)
|
rs55779831
|
0.00001
|
NM_004628.5(XPC):c.2703del (p.Ala902fs)
|
rs1280251289
|
0.00001
|
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)
|
rs745679643
|
0.00001
|
NM_004628.5(XPC):c.739C>T (p.Arg247Ter)
|
rs764321665
|
0.00001
|
NM_004628.5(XPC):c.779+1G>T
|
rs975121308
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1170+7C>T
|
rs906888001
|
0.00001
|
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser)
|
rs746189747
|
0.00001
|
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=)
|
rs267605438
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
NM_004646.4(NPHS1):c.2815+3A>G
|
rs1223946044
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.3312-23C>T
|
rs755493354
|
0.00001
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
NM_004646.4(NPHS1):c.58+1G>A
|
rs386833954
|
0.00001
|
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg)
|
rs755962215
|
0.00001
|
NM_004937.3(CTNS):c.-8C>T
|
rs372701935
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)
|
rs564408927
|
0.00001
|
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=)
|
rs786201261
|
0.00001
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
NM_005359.6(SMAD4):c.249+9T>C
|
rs770523387
|
0.00001
|
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)
|
rs281875323
|
0.00001
|
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)
|
rs750355699
|
0.00001
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)
|
rs751985298
|
0.00001
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
NM_005476.7(GNE):c.127G>A (p.Val43Ile)
|
rs1223454836
|
0.00001
|
NM_005476.7(GNE):c.1354A>G (p.Met452Val)
|
rs746051210
|
0.00001
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)
|
rs1357906793
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_005609.4(PYGM):c.1092+1G>A
|
rs749560316
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005732.4(RAD50):c.1052-16del
|
rs757412385
|
0.00001
|
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)
|
rs1247689593
|
0.00001
|
NM_005732.4(RAD50):c.2923-7T>C
|
rs1329253830
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)
|
rs1489993984
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg)
|
rs759557477
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_006231.4(POLE):c.1309G>A (p.Val437Met)
|
rs115047349
|
0.00001
|
NM_006231.4(POLE):c.1360-20C>G
|
rs781212006
|
0.00001
|
NM_006231.4(POLE):c.1378G>A (p.Val460Met)
|
rs753586583
|
0.00001
|
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)
|
rs980578884
|
0.00001
|
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs)
|
rs1060500792
|
0.00001
|
NM_006231.4(POLE):c.1524G>T (p.Gln508His)
|
rs762030811
|
0.00001
|
NM_006231.4(POLE):c.2562-5T>G
|
rs1461925348
|
0.00001
|
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)
|
rs770470552
|
0.00001
|
NM_006231.4(POLE):c.2707-9G>A
|
rs1057521516
|
0.00001
|
NM_006231.4(POLE):c.3061-12G>C
|
rs779496994
|
0.00001
|
NM_006231.4(POLE):c.3378+15C>T
|
rs574954983
|
0.00001
|
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter)
|
rs151278283
|
0.00001
|
NM_006231.4(POLE):c.4150-13G>A
|
rs780409701
|
0.00001
|
NM_006231.4(POLE):c.423+20T>C
|
rs201628896
|
0.00001
|
NM_006231.4(POLE):c.424-2A>G
|
rs1555230117
|
0.00001
|
NM_006231.4(POLE):c.5174-17G>A
|
rs201254290
|
0.00001
|
NM_006231.4(POLE):c.5379-5T>C
|
rs761910924
|
0.00001
|
NM_006231.4(POLE):c.5398G>A (p.Val1800Met)
|
rs199777048
|
0.00001
|
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter)
|
rs1470483579
|
0.00001
|
NM_006231.4(POLE):c.775C>T (p.Arg259Cys)
|
rs777638541
|
0.00001
|
NM_006231.4(POLE):c.796C>T (p.Arg266Ter)
|
rs767666219
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006261.5(PROP1):c.110-2A>G
|
rs1057516846
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.593-9C>T
|
rs1057517597
|
0.00001
|
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007194.4(CHEK2):c.908+18T>A
|
rs755416802
|
0.00001
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met)
|
rs767656411
|
0.00001
|
NM_007294.4(BRCA1):c.*743G>T
|
rs886052971
|
0.00001
|
NM_007294.4(BRCA1):c.*800T>C
|
rs1555574136
|
0.00001
|
NM_007294.4(BRCA1):c.-20+103G>C
|
rs1057517546
|
0.00001
|
NM_007294.4(BRCA1):c.-20+55G>A
|
rs772215665
|
0.00001
|
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr)
|
rs79727659
|
0.00001
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg)
|
rs863224752
|
0.00001
|
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)
|
rs769650474
|
0.00001
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
NM_007294.4(BRCA1):c.135-18T>G
|
rs80358085
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
|
rs80357360
|
0.00001
|
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)
|
rs80357221
|
0.00001
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)
|
rs786201323
|
0.00001
|
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg)
|
rs62625304
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=)
|
rs587780795
|
0.00001
|
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)
|
rs80357159
|
0.00001
|
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
|
rs552505690
|
0.00001
|
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)
|
rs756211343
|
0.00001
|
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)
|
rs80356902
|
0.00001
|
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)
|
rs80357064
|
0.00001
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)
|
rs80357355
|
0.00001
|
NM_007294.4(BRCA1):c.1998A>G (p.Leu666=)
|
rs864622452
|
0.00001
|
NM_007294.4(BRCA1):c.212+4T>C
|
rs398122652
|
0.00001
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys)
|
rs786204151
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys)
|
rs398122662
|
0.00001
|
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val)
|
rs80357091
|
0.00001
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile)
|
rs864622588
|
0.00001
|
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)
|
rs80357361
|
0.00001
|
NM_007294.4(BRCA1):c.290C>G (p.Thr97Arg)
|
rs431825393
|
0.00001
|
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)
|
rs431825394
|
0.00001
|
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=)
|
rs273899691
|
0.00001
|
NM_007294.4(BRCA1):c.301+10G>A
|
rs80358001
|
0.00001
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
|
rs786202155
|
0.00001
|
NM_007294.4(BRCA1):c.3286del (p.Gln1096fs)
|
rs80357533
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile)
|
rs748894760
|
0.00001
|
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr)
|
rs80356867
|
0.00001
|
NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val)
|
rs762744684
|
0.00001
|
NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)
|
rs786202900
|
0.00001
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)
|
rs398122676
|
0.00001
|
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)
|
rs80357160
|
0.00001
|
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)
|
rs80357189
|
0.00001
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)
|
rs142383077
|
0.00001
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)
|
rs80357218
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4185+9C>T
|
rs80358034
|
0.00001
|
NM_007294.4(BRCA1):c.4186-19C>T
|
rs80358016
|
0.00001
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4358-2715C>A
|
rs746972533
|
0.00001
|
NM_007294.4(BRCA1):c.4358-2735A>G
|
rs1057517571
|
0.00001
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu)
|
rs80357031
|
0.00001
|
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro)
|
rs398122686
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=)
|
rs756281673
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met)
|
rs273900737
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys)
|
rs80357045
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)
|
rs55816927
|
0.00001
|
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)
|
rs200432771
|
0.00001
|
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)
|
rs28897695
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
NM_007294.4(BRCA1):c.5074+14C>T
|
rs370299792
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5075-9A>T
|
rs80358059
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5152+10A>G
|
rs80358114
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)
|
rs80357324
|
0.00001
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
NM_007294.4(BRCA1):c.5332+3A>G
|
rs766614917
|
0.00001
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)
|
rs730881456
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5467+22G>C
|
rs779046757
|
0.00001
|
NM_007294.4(BRCA1):c.548-18T>G
|
rs397507251
|
0.00001
|
NM_007294.4(BRCA1):c.548-3T>C
|
rs397507252
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)
|
rs273902776
|
0.00001
|
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)
|
rs786201502
|
0.00001
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
NM_007294.4(BRCA1):c.593+9A>G
|
rs80358133
|
0.00001
|
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)
|
rs273902779
|
0.00001
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
NM_007294.4(BRCA1):c.755G>A (p.Arg252His)
|
rs80357138
|
0.00001
|
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)
|
rs397509319
|
0.00001
|
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)
|
rs80357707
|
0.00001
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
NM_012203.2(GRHPR):c.214+1G>T
|
rs1244822375
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup)
|
rs540605802
|
0.00001
|
NM_014249.4(NR2E3):c.-10C>T
|
rs771015928
|
0.00001
|
NM_014249.4(NR2E3):c.1101-10T>C
|
rs763647845
|
0.00001
|
NM_014249.4(NR2E3):c.119-6C>T
|
rs745910334
|
0.00001
|
NM_014249.4(NR2E3):c.183C>T (p.Ile61=)
|
rs771404428
|
0.00001
|
NM_014249.4(NR2E3):c.350-31C>T
|
rs1322109793
|
0.00001
|
NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)
|
rs1261697277
|
0.00001
|
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)
|
rs779518180
|
0.00001
|
NM_014249.4(NR2E3):c.747+10G>A
|
rs780825147
|
0.00001
|
NM_014249.4(NR2E3):c.858C>T (p.Ala286=)
|
rs566024312
|
0.00001
|
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)
|
rs767926148
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle)
|
rs1555250190
|
0.00001
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)
|
rs767622491
|
0.00001
|
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)
|
rs746194271
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5122del (p.Ala1708fs)
|
rs1485885260
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)
|
rs1057516747
|
0.00001
|
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter)
|
rs1462028977
|
0.00001
|
NM_014625.4(NPHS2):c.378+1G>A
|
rs762631237
|
0.00001
|
NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter)
|
rs755972674
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_014625.4(NPHS2):c.535-1G>T
|
rs1291398331
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_014625.4(NPHS2):c.873+2T>A
|
rs967339926
|
0.00001
|
NM_014625.4(NPHS2):c.88G>A (p.Glu30Lys)
|
rs1477180313
|
0.00001
|
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)
|
rs748203170
|
0.00001
|
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)
|
rs751970061
|
0.00001
|
NM_015166.4(MLC1):c.136del (p.Cys46fs)
|
rs1057516766
|
0.00001
|
NM_015166.4(MLC1):c.321+1G>A
|
rs765879182
|
0.00001
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
NM_015166.4(MLC1):c.714+1G>A
|
rs761620701
|
0.00001
|
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile)
|
rs1227088497
|
0.00001
|
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)
|
rs1057516465
|
0.00001
|
NM_015346.4(ZFYVE26):c.1017+1G>T
|
rs1224762841
|
0.00001
|
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)
|
rs981804211
|
0.00001
|
NM_015346.4(ZFYVE26):c.2333-1G>C
|
rs746606852
|
0.00001
|
NM_015346.4(ZFYVE26):c.273+8G>A
|
rs750522064
|
0.00001
|
NM_015346.4(ZFYVE26):c.3020-2A>G
|
rs1470672632
|
0.00001
|
NM_015346.4(ZFYVE26):c.4089_4091del (p.Pro1364del)
|
rs1487236153
|
0.00001
|
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs)
|
rs868672014
|
0.00001
|
NM_015346.4(ZFYVE26):c.7504C>T (p.Gln2502Ter)
|
rs1555392776
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_017739.4(POMGNT1):c.*30_*33del
|
rs1553162554
|
0.00001
|
NM_017739.4(POMGNT1):c.*404_*405dup
|
rs940315351
|
0.00001
|
NM_017739.4(POMGNT1):c.1152+2T>C
|
rs1553163335
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-1G>C
|
rs770219373
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)
|
rs377170894
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)
|
rs796052352
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)
|
rs750081097
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_020533.3(MCOLN1):c.681-19A>C
|
rs768736321
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020533.3(MCOLN1):c.984+1G>A
|
rs767950930
|
0.00001
|
NM_020975.6(RET):c.139G>A (p.Gly47Ser)
|
rs529018971
|
0.00001
|
NM_020975.6(RET):c.1648+24G>A
|
rs1057517640
|
0.00001
|
NM_020975.6(RET):c.1760-3C>T
|
rs587781734
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
NM_020975.6(RET):c.2802-4G>T
|
rs878855061
|
0.00001
|
NM_020975.6(RET):c.2887C>A (p.Leu963Ile)
|
rs864622603
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.3057G>A (p.Ala1019=)
|
rs369579749
|
0.00001
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)
|
rs776615468
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
NM_020975.6(RET):c.667G>A (p.Val223Met)
|
rs587780815
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.835G>A (p.Ala279Thr)
|
rs777221273
|
0.00001
|
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met)
|
rs387907484
|
0.00001
|
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter)
|
rs941971930
|
0.00001
|
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter)
|
rs1162410484
|
0.00001
|
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs)
|
rs758100654
|
0.00001
|
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup)
|
rs778682733
|
0.00001
|
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr)
|
rs760075470
|
0.00001
|
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser)
|
rs387907486
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)
|
rs752243337
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)
|
rs398124392
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)
|
rs28937901
|
0.00001
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)
|
rs200646278
|
0.00001
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)
|
rs137853822
|
0.00001
|
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp)
|
rs373662553
|
0.00001
|
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys)
|
rs779572693
|
0.00001
|
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val)
|
rs142172397
|
0.00001
|
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)
|
rs281865009
|
0.00001
|
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)
|
rs142065232
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)
|
rs1481471124
|
0.00001
|
NM_024649.5(BBS1):c.*10T>A
|
rs765633556
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln)
|
rs749461008
|
0.00001
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe)
|
rs757397623
|
0.00001
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
|
rs749842477
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
rs45537237
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
NM_024675.4(PALB2):c.2508C>G (p.Val836=)
|
rs786203603
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2748+13C>G
|
rs771355581
|
0.00001
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile)
|
rs764140747
|
0.00001
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3201+20G>T
|
rs774029323
|
0.00001
|
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)
|
rs747861082
|
0.00001
|
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser)
|
rs188254555
|
0.00001
|
NM_024675.4(PALB2):c.3351-10A>G
|
rs1057517611
|
0.00001
|
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)
|
rs373783514
|
0.00001
|
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr)
|
rs146444298
|
0.00001
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)
|
rs372686500
|
0.00001
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile)
|
rs786202499
|
0.00001
|
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe)
|
rs751882053
|
0.00001
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
NM_024675.4(PALB2):c.993A>G (p.Glu331=)
|
rs760362870
|
0.00001
|
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.198-1G>C
|
rs1555202740
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met)
|
rs774112668
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter)
|
rs1555520107
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.730_732del (p.Ala244del)
|
rs1171314440
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
NM_032316.3(NICN1):c.*2317A>G
|
rs1553638927
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter)
|
rs1407085233
|
0.00001
|
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)
|
rs193302848
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.838+1G>T
|
rs750214431
|
0.00001
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile)
|
rs776987532
|
0.00001
|
NM_058195.4(CDKN2A):c.193+7A>G
|
rs770519197
|
0.00001
|
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys)
|
rs1057517601
|
0.00001
|
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu)
|
rs1057517575
|
0.00001
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr)
|
rs587782222
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)
|
rs765300465
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.905-7C>T
|
rs757624360
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)
|
rs774934005
|
0.00001
|
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)
|
rs762224854
|
0.00001
|
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)
|
rs886056056
|
0.00001
|
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)
|
rs1453934366
|
0.00001
|
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)
|
rs1166980943
|
0.00001
|
NM_133259.4(LRPPRC):c.4128+1G>A
|
rs1475772376
|
0.00001
|
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)
|
rs1163476569
|
0.00001
|
NM_133259.4(LRPPRC):c.650+1G>C
|
rs1249427615
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.341-1G>A
|
rs1554874130
|
0.00001
|
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val)
|
rs374367160
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=)
|
rs267601071
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3229-2del
|
rs1057516283
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.657C>T (p.Gly219=)
|
rs189345248
|
0.00001
|
NM_138694.4(PKHD1):c.6996+9T>A
|
rs878855203
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp)
|
rs752776137
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu)
|
rs141169758
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)
|
rs1159758018
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)
|
rs146538906
|
0.00001
|
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys)
|
rs761946397
|
0.00001
|
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met)
|
rs267601674
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.1302+2dup
|
rs766708621
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4224+6A>G
|
rs1173901763
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)
|
rs120074150
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7780-2A>C
|
rs1378196300
|
0.00001
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
NM_152618.3(BBS12):c.*803_*804insT
|
rs1332628916
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)
|
rs770746493
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)
|
rs755314355
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
0.00001
|
NM_153676.4(USH1C):c.1531-11A>G
|
rs397517872
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_153717.3(EVC):c.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138
|
0.00001
|
NM_153717.3(EVC):c.835_837del (p.Lys279del)
|
rs761463883
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)
|
rs758345818
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_174878.3(CLRN1):c.254-2057T>C
|
rs778574679
|
0.00001
|
NM_174878.3(CLRN1):c.254-2082T>G
|
rs963890618
|
0.00001
|
NM_174878.3(CLRN1):c.254-2111del
|
rs1211060908
|
0.00001
|
NM_174878.3(CLRN1):c.291C>T (p.Ile97=)
|
rs1231233910
|
0.00001
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)
|
rs886060726
|
0.00001
|
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs)
|
rs776270090
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)
|
rs774916970
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)
|
rs1057516795
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_198129.4(LAMA3):c.10000T>A (p.Ter3334Lys)
|
rs1555756804
|
0.00001
|
NM_198129.4(LAMA3):c.1064-1G>A
|
rs780441868
|
0.00001
|
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter)
|
rs757972988
|
0.00001
|
NM_198129.4(LAMA3):c.1742-1G>A
|
rs778808869
|
0.00001
|
NM_198129.4(LAMA3):c.2147+1G>A
|
rs1555700517
|
0.00001
|
NM_198129.4(LAMA3):c.2571+2dup
|
rs1203300407
|
0.00001
|
NM_198129.4(LAMA3):c.3093+1G>C
|
rs1392528129
|
0.00001
|
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter)
|
rs868258726
|
0.00001
|
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter)
|
rs1317347725
|
0.00001
|
NM_198129.4(LAMA3):c.5113-2A>G
|
rs1057516475
|
0.00001
|
NM_198129.4(LAMA3):c.7158+1G>A
|
rs1057516279
|
0.00001
|
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)
|
rs774133746
|
0.00001
|
NM_198129.4(LAMA3):c.8295+2T>C
|
rs1555743457
|
0.00001
|
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)
|
rs772038362
|
0.00001
|
NM_198129.4(LAMA3):c.9511+1G>A
|
rs1296034886
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=)
|
rs397517967
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)
|
rs397517992
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)
|
rs397517995
|
0.00001
|
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)
|
rs762610249
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr)
|
rs1177455978
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=)
|
rs397518028
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn)
|
rs750687826
|
0.00001
|
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)
|
rs727505274
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
0.00001
|
NR_003051.3(RMRP):n.-13_-7dup7
|
rs1554651462
|
0.00001
|
NR_003051.3(RMRP):n.-15delT
|
rs1554651530
|
0.00001
|
NR_003051.3(RMRP):n.-16_-4dup
|
rs1554651422
|
0.00001
|
NR_003051.3(RMRP):n.-19_-12dup8
|
rs1554651505
|
0.00001
|
NR_003051.3(RMRP):n.-20_-18delCTC
|
rs1210447003
|
0.00001
|
NR_003051.3(RMRP):n.-20_-18dupCTC
|
rs1554651542
|
0.00001
|
NR_003051.3(RMRP):n.-20_-2dup
|
rs1554651404
|
0.00001
|
NR_003051.3(RMRP):n.-21_-2dup
|
rs1554651403
|
0.00001
|
NR_003051.3(RMRP):n.-22_-4dup
|
rs1554651427
|
0.00001
|
NR_003051.3(RMRP):n.-23_-10dup
|
rs1554651489
|
0.00001
|
NR_003051.3(RMRP):n.-23_-5dup19
|
rs1554651428
|
0.00001
|
NR_003051.3(RMRP):n.-23_-6dup
|
rs1554651453
|
0.00001
|
NR_003051.3(RMRP):n.-25_-8dup18
|
rs1554651473
|
0.00001
|
NR_003051.3(RMRP):n.-2_6dup8
|
rs1169511671
|
0.00001
|
NR_003051.3(RMRP):n.-7delA
|
rs911564838
|
0.00001
|
NR_003051.4(RMRP):n.122_124dup
|
rs1240755048
|
0.00001
|
NR_003051.4(RMRP):n.130C>T
|
rs1335579840
|
0.00001
|
NR_003051.4(RMRP):n.256C>G
|
rs1170858087
|
0.00001
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
NR_003051.4(RMRP):n.67delA
|
rs1317019943
|
0.00001
|
NR_003051.4(RMRP):n.71_72delGA
|
rs1491544612
|
0.00001
|
NC_000005.10:g.70946066_70946176del
|
rs1554082110
|
|
NC_000014.9:g.87925139C>T
|
rs1555377065
|
|
NC_000014.9:g.87925152T>C
|
rs1555377066
|
|
NC_000014.9:g.87925176G>A
|
rs1234372203
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000016.10:g.(?_151209)_(182142_?)del
|
|
|
NC_000016.10:g.(?_169780)_(182142_?)del
|
|
|
NM_000016.6(ACADM):c.1045del (p.Arg349fs)
|
rs1057516463
|
|
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)
|
rs988752772
|
|
NM_000016.6(ACADM):c.1073del (p.Lys358fs)
|
rs1057517411
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.118+1G>T
|
rs113887538
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1195-1G>C
|
rs1553127378
|
|
NM_000016.6(ACADM):c.1195-2A>T
|
rs879234543
|
|
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)
|
rs1553127382
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del)
|
rs1553127399
|
|
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu)
|
rs1553127400
|
|
NM_000016.6(ACADM):c.173_174del (p.Glu58fs)
|
rs1057517179
|
|
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)
|
rs1057520214
|
|
NM_000016.6(ACADM):c.1A>G (p.Met1Val)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp)
|
rs1553122943
|
|
NM_000016.6(ACADM):c.216+1G>T
|
rs1057516801
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.270_271del (p.Ile91fs)
|
rs766173642
|
|
NM_000016.6(ACADM):c.286+2T>G
|
rs1553122996
|
|
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)
|
rs1553123077
|
|
NM_000016.6(ACADM):c.387+1G>A
|
rs1057516983
|
|
NM_000016.6(ACADM):c.387+1G>T
|
rs1057516983
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.387+2dup
|
rs1553123086
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.469-2A>C
|
rs1553123857
|
|
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)
|
rs1553123858
|
|
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del)
|
rs1553123864
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.539_541del (p.Gly180del)
|
rs776120077
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.624T>C (p.Asp208=)
|
rs886046523
|
|
NM_000016.6(ACADM):c.708+2T>G
|
rs1553124805
|
|
NM_000016.6(ACADM):c.708+6G>T
|
rs958629659
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup)
|
rs760137614
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)
|
rs1553125264
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
|
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT
|
rs1553125391
|
|
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA
|
rs1553125389
|
|
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)
|
rs875989855
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.949C>T (p.Gln317Ter)
|
rs1057516564
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)
|
rs1057516485
|
|
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)
|
rs786204631
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000017.4(ACADS):c.1029+1G>A
|
rs1057516639
|
|
NM_000017.4(ACADS):c.1031del (p.Glu344fs)
|
rs1057517155
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr)
|
rs768733898
|
|
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)
|
rs541587321
|
|
NM_000017.4(ACADS):c.1086+1G>A
|
rs1555244367
|
|
NM_000017.4(ACADS):c.1086+1G>T
|
rs1555244367
|
|
NM_000017.4(ACADS):c.1086+1del
|
rs1555244366
|
|
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter)
|
rs1555244413
|
|
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)
|
rs202124189
|
|
NM_000017.4(ACADS):c.1182del (p.Ser395fs)
|
rs1555244432
|
|
NM_000017.4(ACADS):c.1213del (p.His405fs)
|
rs1555244455
|
|
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)
|
rs1057516733
|
|
NM_000017.4(ACADS):c.211-1G>A
|
rs1057516566
|
|
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile)
|
rs1358146160
|
|
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)
|
rs387906308
|
|
NM_000017.4(ACADS):c.315del (p.Ser106fs)
|
rs1057516385
|
|
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)
|
rs387906951
|
|
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)
|
rs780571371
|
|
NM_000017.4(ACADS):c.32del (p.Gly11fs)
|
rs1057516967
|
|
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter)
|
rs749491616
|
|
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)
|
rs752677472
|
|
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter)
|
rs149107232
|
|
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile)
|
rs764413160
|
|
NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln)
|
rs1555243966
|
|
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup)
|
rs1555243967
|
|
NM_000017.4(ACADS):c.47-6C>A
|
rs749023748
|
|
NM_000017.4(ACADS):c.473-2A>G
|
rs1057516231
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter)
|
rs1057516848
|
|
NM_000017.4(ACADS):c.593_594del (p.Phe198fs)
|
rs1057516685
|
|
NM_000017.4(ACADS):c.675dup (p.Lys226fs)
|
rs1057516436
|
|
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)
|
rs786204691
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del)
|
rs1555244266
|
|
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup)
|
rs1555244270
|
|
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)
|
rs932525260
|
|
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)
|
rs796051906
|
|
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)
|
rs1555244280
|
|
NM_000017.4(ACADS):c.995C>T (p.Ala332Val)
|
rs1555244290
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC
|
rs6145976
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
|
rs753389263
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT
|
rs1555527399
|
|
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG
|
rs1555527393
|
|
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA
|
rs1555527401
|
|
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG
|
rs1555527385
|
|
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)
|
rs1315330884
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)
|
rs1057517281
|
|
NM_000018.4(ACADVL):c.1182+2T>C
|
rs1555528635
|
|
NM_000018.4(ACADVL):c.1183-1G>A
|
rs1057516818
|
|
NM_000018.4(ACADVL):c.1183-2dup
|
rs1555528721
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1270-38A>G
|
rs1555528742
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1333-25T>C
|
rs770876053
|
|
NM_000018.4(ACADVL):c.1333-2A>T
|
rs1057517280
|
|
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)
|
rs1057517331
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
NM_000018.4(ACADVL):c.139-3C>T
|
rs1555527630
|
|
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)
|
rs1555528803
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+24G>A
|
rs1555528806
|
|
NM_000018.4(ACADVL):c.1434+27G>A
|
rs1271483942
|
|
NM_000018.4(ACADVL):c.1434+2T>G
|
rs1555528804
|
|
NM_000018.4(ACADVL):c.1532+2T>C
|
rs111851815
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro)
|
rs200771970
|
|
NM_000018.4(ACADVL):c.1606-1G>A
|
rs1057517386
|
|
NM_000018.4(ACADVL):c.1606-28G>A
|
rs773931227
|
|
NM_000018.4(ACADVL):c.1606-2A>C
|
rs113467582
|
|
NM_000018.4(ACADVL):c.1606-36G>A
|
rs890862631
|
|
NM_000018.4(ACADVL):c.1606-42C>G
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1606-42C>T
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=)
|
rs1555528948
|
|
NM_000018.4(ACADVL):c.1678+27C>A
|
rs759729168
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
NM_000018.4(ACADVL):c.16_32del (p.Met6fs)
|
rs1555527450
|
|
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs)
|
rs1555529004
|
|
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)
|
rs1057516226
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter)
|
rs1555529172
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.204+31dup
|
rs1555527700
|
|
NM_000018.4(ACADVL):c.204+5G>A
|
rs958328801
|
|
NM_000018.4(ACADVL):c.205-5C>G
|
rs768537914
|
|
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr)
|
rs1555527718
|
|
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs)
|
rs1452339268
|
|
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)
|
rs1555527732
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.277+1G>T
|
rs1057517012
|
|
NM_000018.4(ACADVL):c.277+1del
|
rs1555527741
|
|
NM_000018.4(ACADVL):c.277+27del
|
rs775298132
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)
|
rs1555527806
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del)
|
rs1555527820
|
|
NM_000018.4(ACADVL):c.33del (p.Arg12fs)
|
rs1555527464
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)
|
rs1555527907
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
NM_000018.4(ACADVL):c.478-1G>C
|
rs1057517130
|
|
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)
|
rs796051908
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)
|
rs1220348903
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
NM_000018.4(ACADVL):c.62+6T>C
|
rs1555527495
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.759_761del (p.Gly254del)
|
rs1555528346
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.891del (p.Lys298fs)
|
rs1057517180
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly)
|
rs1555528469
|
|
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000022.4(ADA):c.1078+2T>A
|
rs1555843178
|
|
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer)
|
rs1555843039
|
|
NM_000022.4(ADA):c.218+2T>G
|
rs1555845120
|
|
NM_000022.4(ADA):c.218+2dup
|
rs1555845122
|
|
NM_000022.4(ADA):c.219-1G>A
|
rs751147673
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)
|
rs1555844616
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.479-3_479-2del
|
rs1555844457
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)
|
rs1555844416
|
|
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)
|
rs1555844120
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.790del (p.Trp264fs)
|
rs1555844006
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)
|
rs1057517107
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.158-2A>G
|
rs1057516300
|
|
NM_000023.4(SGCA):c.220del (p.Arg74fs)
|
rs1555568325
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)
|
rs1555568389
|
|
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)
|
rs1555568396
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)
|
rs1057517142
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
NM_000023.4(SGCA):c.559del (p.Leu187fs)
|
rs1057516888
|
|
NM_000023.4(SGCA):c.584+1del
|
rs1555568876
|
|
NM_000023.4(SGCA):c.585-2A>T
|
rs1555568965
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)
|
rs1555568984
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.718T>G (p.Phe240Val)
|
rs1555569031
|
|
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)
|
rs1555569038
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.755del (p.Lys252fs)
|
rs1057516548
|
|
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)
|
rs750086289
|
|
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)
|
rs1057516729
|
|
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)
|
rs1555569303
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)
|
rs1555569339
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.28del (p.Leu10fs)
|
rs1057517062
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.308_310del (p.Gly103del)
|
rs1553994762
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.376del (p.Leu126fs)
|
rs1553994755
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
NM_000027.4(AGA):c.490C>T (p.Gln164Ter)
|
rs1057517329
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.623-2A>G
|
rs1483909684
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.70del (p.Ser24fs)
|
rs1057517239
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
NM_000027.4(AGA):c.941-2A>G
|
rs1553993921
|
|
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)
|
rs1201784742
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1072-91G>A
|
rs180177159
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)
|
rs1553648333
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs)
|
rs1553648488
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)
|
rs121908530
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.596-2A>G
|
rs180177245
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)
|
rs1554702065
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.112+1del
|
rs1057516534
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)
|
rs781023784
|
|
NM_000035.4(ALDOB):c.287del (p.Asn96fs)
|
rs1554702890
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.325-1G>A
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
NM_000035.4(ALDOB):c.380-2A>G
|
rs1300461861
|
|
NM_000035.4(ALDOB):c.420del (p.Asp141fs)
|
rs1057517421
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.546del (p.Leu183fs)
|
rs1057517091
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)
|
rs1554702442
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.712dup (p.His238fs)
|
rs1554702425
|
|
NM_000035.4(ALDOB):c.806_808del (p.Cys269del)
|
rs1159180033
|
|
NM_000035.4(ALDOB):c.812del (p.Leu271fs)
|
rs1554702353
|
|
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
|
NM_000035.4(ALDOB):c.940dup (p.Trp314fs)
|
rs1554702328
|
|
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)
|
rs1554702325
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1530dup (p.Gly511fs)
|
rs1554081749
|
|
NM_000038.6(APC):c.1548+2T>C
|
rs1057517561
|
|
NM_000038.6(APC):c.1571G>C (p.Gly524Ala)
|
rs587782868
|
|
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)
|
rs1554082135
|
|
NM_000038.6(APC):c.170A>T (p.Asp57Val)
|
rs794729227
|
|
NM_000038.6(APC):c.1744-14_1744-13del
|
rs1554083086
|
|
NM_000038.6(APC):c.1958+27del
|
rs1402242990
|
|
NM_000038.6(APC):c.2196T>C (p.Asn732=)
|
rs781693283
|
|
NM_000038.6(APC):c.2309C>G (p.Ser770Ter)
|
rs1060503310
|
|
NM_000038.6(APC):c.2385C>T (p.Leu795=)
|
rs80188155
|
|
NM_000038.6(APC):c.2483C>T (p.Thr828Ile)
|
rs786203696
|
|
NM_000038.6(APC):c.2658G>T (p.Gln886His)
|
rs587780593
|
|
NM_000038.6(APC):c.2659A>G (p.Ile887Val)
|
rs730881241
|
|
NM_000038.6(APC):c.2716T>G (p.Ser906Ala)
|
rs786204146
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs)
|
rs1057517553
|
|
NM_000038.6(APC):c.3040A>G (p.Met1014Val)
|
rs1554084654
|
|
NM_000038.6(APC):c.3179_3184del (p.Ile1060_Gln1062delinsLys)
|
rs1057517624
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3275A>C (p.His1092Pro)
|
rs587779788
|
|
NM_000038.6(APC):c.332G>A (p.Ser111Asn)
|
rs786202322
|
|
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)
|
rs1554085081
|
|
NM_000038.6(APC):c.3535T>C (p.Tyr1179His)
|
rs751249843
|
|
NM_000038.6(APC):c.3612A>G (p.Gln1204=)
|
rs864622196
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
NM_000038.6(APC):c.388del (p.Ser130fs)
|
rs1554069828
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3956del (p.Pro1319fs)
|
rs1057517558
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile)
|
rs373607243
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
NM_000038.6(APC):c.422+2T>C
|
rs879254169
|
|
NM_000038.6(APC):c.423-28G>T
|
rs570467572
|
|
NM_000038.6(APC):c.4456_4458del (p.Asp1486del)
|
rs761504791
|
|
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs)
|
rs1554086015
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.476dup (p.Tyr159Ter)
|
rs878853451
|
|
NM_000038.6(APC):c.4783G>C (p.Ala1595Pro)
|
rs749782426
|
|
NM_000038.6(APC):c.4850_4855del (p.Leu1617_Leu1618del)
|
rs1057517588
|
|
NM_000038.6(APC):c.5240T>C (p.Met1747Thr)
|
rs864622751
|
|
NM_000038.6(APC):c.5250C>T (p.Val1750=)
|
rs2229997
|
|
NM_000038.6(APC):c.531+1G>C
|
rs876659973
|
|
NM_000038.6(APC):c.532-939G>A
|
rs551489857
|
|
NM_000038.6(APC):c.532-939G>T
|
rs551489857
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
NM_000038.6(APC):c.5432C>T (p.Ser1811Leu)
|
rs1060503325
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
NM_000038.6(APC):c.5603ATG[5] (p.Asp1871dup)
|
rs779014936
|
|
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)
|
rs1554086854
|
|
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)
|
rs1554086862
|
|
NM_000038.6(APC):c.5743A>G (p.Lys1915Glu)
|
rs587778031
|
|
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu)
|
rs587779801
|
|
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)
|
rs1057517544
|
|
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)
|
rs786202975
|
|
NM_000038.6(APC):c.6310A>G (p.Ile2104Val)
|
rs878853462
|
|
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)
|
rs1057517568
|
|
NM_000038.6(APC):c.6474C>A (p.Pro2158=)
|
rs772027192
|
|
NM_000038.6(APC):c.6775A>G (p.Lys2259Glu)
|
rs763707129
|
|
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del)
|
rs1057517569
|
|
NM_000038.6(APC):c.6850C>A (p.Pro2284Thr)
|
rs1554087789
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
NM_000038.6(APC):c.7105_7107del (p.Pro2369del)
|
rs1064794884
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu)
|
rs758713824
|
|
NM_000038.6(APC):c.7402T>G (p.Ser2468Ala)
|
rs375586273
|
|
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)
|
rs554356011
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
|
NM_000038.6(APC):c.7865C>T (p.Pro2622Leu)
|
rs267600320
|
|
NM_000038.6(APC):c.7945C>T (p.Pro2649Ser)
|
rs864622245
|
|
NM_000038.6(APC):c.8128A>C (p.Ser2710Arg)
|
rs760472102
|
|
NM_000038.6(APC):c.8189C>T (p.Ala2730Val)
|
rs976132108
|
|
NM_000038.6(APC):c.8258A>G (p.Glu2753Gly)
|
rs876660649
|
|
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr)
|
rs863224553
|
|
NM_000038.6(APC):c.835-15G>A
|
rs1057521022
|
|
NM_000038.6(APC):c.836G>T (p.Gly279Val)
|
rs587780607
|
|
NM_000038.6(APC):c.8419A>C (p.Thr2807Pro)
|
rs894164638
|
|
NM_000038.6(APC):c.876G>C (p.Leu292Phe)
|
rs760059672
|
|
NM_000038.6(APC):c.895T>A (p.Ser299Thr)
|
rs763630775
|
|
NM_000038.6(APC):c.933+19C>A
|
rs778599778
|
|
NM_000038.6(APC):c.933+2T>C
|
rs1057517559
|
|
NM_000045.4(ARG1):c.124_126del (p.Glu42del)
|
rs779949397
|
|
NM_000045.4(ARG1):c.129del (p.Glu44fs)
|
rs1169538148
|
|
NM_000045.4(ARG1):c.130+1G>T
|
rs113767658
|
|
NM_000045.4(ARG1):c.131-7_131-2del
|
rs768972828
|
|
NM_000045.4(ARG1):c.131-9dup
|
rs1160133142
|
|
NM_000045.4(ARG1):c.272dup (p.Arg92fs)
|
rs796051923
|
|
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
|
rs1554249332
|
|
NM_000045.4(ARG1):c.422A>T (p.His141Leu)
|
rs1554250849
|
|
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer)
|
rs1554250852
|
|
NM_000045.4(ARG1):c.466-2A>G
|
rs1554251045
|
|
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro)
|
rs1554251136
|
|
NM_000045.4(ARG1):c.58-2A>C
|
rs1554250040
|
|
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs)
|
rs1554251158
|
|
NM_000045.4(ARG1):c.693del (p.Phe231fs)
|
rs1554251191
|
|
NM_000045.4(ARG1):c.767_769del (p.Glu256del)
|
rs1554251236
|
|
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter)
|
rs747579073
|
|
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)
|
rs1326930389
|
|
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)
|
rs1399124034
|
|
NM_000045.4(ARG1):c.874del (p.Thr292fs)
|
rs771395982
|
|
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)
|
rs866970619
|
|
NM_000045.4(ARG1):c.945dup (p.Asp316Ter)
|
rs1420954130
|
|
NM_000045.4(ARG1):c.959_962del (p.Pro320fs)
|
rs1554251368
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000048.4(ASL):c.1062+1G>T
|
rs1554327825
|
|
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)
|
rs875989948
|
|
NM_000048.4(ASL):c.1102A>G (p.Met368Val)
|
rs1554328202
|
|
NM_000048.4(ASL):c.1105del (p.Leu369fs)
|
rs1554328206
|
|
NM_000048.4(ASL):c.111_133del (p.Asp38fs)
|
rs1554326267
|
|
NM_000048.4(ASL):c.1164C>G (p.His388Gln)
|
rs75300185
|
|
NM_000048.4(ASL):c.1207del (p.Val403fs)
|
rs1554328363
|
|
NM_000048.4(ASL):c.1249_1250+12del
|
rs1554328381
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
NM_000048.4(ASL):c.13-1G>C
|
rs1554326239
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)
|
rs932494060
|
|
NM_000048.4(ASL):c.1325del (p.Gly442fs)
|
rs1554328479
|
|
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)
|
rs1554326365
|
|
NM_000048.4(ASL):c.291+1G>T
|
rs201523601
|
|
NM_000048.4(ASL):c.485A>G (p.Gln162Arg)
|
rs1554327025
|
|
NM_000048.4(ASL):c.503G>A (p.Arg168His)
|
rs727503811
|
|
NM_000048.4(ASL):c.631_647del (p.Val211fs)
|
rs1554327181
|
|
NM_000048.4(ASL):c.686G>C (p.Ser229Thr)
|
rs1554327272
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)
|
rs1554327573
|
|
NM_000048.4(ASL):c.785T>C (p.Leu262Pro)
|
rs1554327586
|
|
NM_000048.4(ASL):c.916C>T (p.Arg306Trp)
|
rs868834862
|
|
NM_000048.4(ASL):c.973_976del (p.Leu325fs)
|
rs763407938
|
|
NM_000049.4(ASPA):c.170C>T (p.Ala57Val)
|
rs1555538148
|
|
NM_000049.4(ASPA):c.188G>C (p.Arg63Thr)
|
rs1555538151
|
|
NM_000049.4(ASPA):c.236+1G>A
|
rs1555538157
|
|
NM_000049.4(ASPA):c.237-1G>A
|
rs1057517291
|
|
NM_000049.4(ASPA):c.237-1G>T
|
rs1057517291
|
|
NM_000049.4(ASPA):c.244_245del (p.Met82fs)
|
rs786204620
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
NM_000049.4(ASPA):c.245del (p.Met82fs)
|
rs1057516962
|
|
NM_000049.4(ASPA):c.32del (p.Ile11fs)
|
rs767666474
|
|
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)
|
rs1446467099
|
|
NM_000049.4(ASPA):c.382del (p.Glu129fs)
|
rs1555538825
|
|
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)
|
rs199565861
|
|
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)
|
rs777936704
|
|
NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs)
|
rs1555539105
|
|
NM_000049.4(ASPA):c.527-2A>C
|
rs778385612
|
|
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)
|
rs786204572
|
|
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)
|
rs1335267315
|
|
NM_000049.4(ASPA):c.548C>A (p.Pro183His)
|
rs1555539857
|
|
NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del)
|
rs1555539888
|
|
NM_000049.4(ASPA):c.626del (p.Phe209fs)
|
rs1555539897
|
|
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter)
|
rs1057516416
|
|
NM_000049.4(ASPA):c.650_651del (p.Pro217fs)
|
rs1057516498
|
|
NM_000049.4(ASPA):c.679_682del (p.Glu227fs)
|
rs1555540674
|
|
NM_000049.4(ASPA):c.697del (p.Arg233fs)
|
rs1057516315
|
|
NM_000049.4(ASPA):c.731A>G (p.His244Arg)
|
rs1057516995
|
|
NM_000049.4(ASPA):c.745-1G>A
|
rs1555541278
|
|
NM_000049.4(ASPA):c.745-2A>G
|
rs1057517066
|
|
NM_000049.4(ASPA):c.796dup (p.Asp266fs)
|
rs1555541291
|
|
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)
|
rs1057517085
|
|
NM_000049.4(ASPA):c.831del (p.Val278fs)
|
rs1555541304
|
|
NM_000049.4(ASPA):c.839C>T (p.Pro280Leu)
|
rs1555541310
|
|
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter)
|
rs375736464
|
|
NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del)
|
rs1555541321
|
|
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)
|
rs766720790
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
NM_000049.4(ASPA):c.922del (p.Ile308fs)
|
rs1057516309
|
|
NM_000049.4(ASPA):c.924del (p.Arg309fs)
|
rs1057517260
|
|
NM_000049.4(ASPA):c.935T>G (p.Leu312Ter)
|
rs1555541343
|
|
NM_000050.4(ASS1):c.366delG
|
rs1057516544
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.-111_-109delinsAC
|
rs1555051087
|
|
NM_000051.4(ATM):c.-31+595G>A
|
rs1555051574
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-1G>T
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>C
|
rs1555069514
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)
|
rs762557654
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del)
|
rs1555070659
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.153dup (p.Gly52fs)
|
rs1555054197
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1754dup (p.Leu585fs)
|
rs1555072012
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1856del (p.Asn619fs)
|
rs1057517300
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2125-1G>A
|
rs1402299151
|
|
NM_000051.4(ATM):c.2125del (p.Ile709fs)
|
rs1057517248
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)
|
rs879254046
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2839-18dup
|
rs730881287
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3068del (p.Gly1023fs)
|
rs1057516590
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.318A>C (p.Lys106Asn)
|
rs1555055319
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile)
|
rs1555086177
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)
|
rs1057516301
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.382G>A (p.Val128Met)
|
rs587779835
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3990del (p.Lys1330fs)
|
rs1057517100
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
|
rs1555095841
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)
|
rs1057516311
|
|
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys)
|
rs1227046364
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del)
|
rs1555099818
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4612-1G>A
|
rs1555100351
|
|
NM_000051.4(ATM):c.4612-2A>C
|
rs1555100347
|
|
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4695del (p.Pro1566fs)
|
rs1057517452
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+23_4776+25del
|
rs770860526
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)
|
rs1057516358
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5320-4_5323del
|
rs1057516540
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)
|
rs1555106493
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser)
|
rs1555110330
|
|
NM_000051.4(ATM):c.588del (p.Gly197fs)
|
rs1057516683
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5896dup (p.Ser1966fs)
|
rs1555110514
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5918+16A>G
|
rs3092911
|
|
NM_000051.4(ATM):c.5919-2A>C
|
rs746623393
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6452+2T>C
|
rs1064795006
|
|
NM_000051.4(ATM):c.6452+6A>G
|
rs878853531
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer)
|
rs1555119092
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu)
|
rs1555119886
|
|
NM_000051.4(ATM):c.6975+5_6975+9del
|
rs1555120086
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7123AGT[1] (p.Ser2376del)
|
rs1555121978
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7629+2dup
|
rs1555124141
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.7785T>C (p.Asp2595=)
|
rs34838175
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)
|
rs1555125212
|
|
NM_000051.4(ATM):c.7796del (p.Thr2599fs)
|
rs1555125223
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7927+5del
|
rs786204437
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8010+30dup
|
rs3218702
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8106dup (p.Asp2703fs)
|
rs1555127231
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8418+1G>A
|
rs766533795
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg)
|
rs141534716
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
NM_000051.4(ATM):c.8586del (p.Gly2863fs)
|
rs1555139467
|
|
NM_000051.4(ATM):c.8671+2T>C
|
rs1057516229
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
NM_000051.4(ATM):c.8987+3_8987+35del
|
rs774188684
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>C
|
rs786202087
|
|
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)
|
rs144636562
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)
|
rs1555152009
|
|
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)
|
rs1555152104
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
NM_000053.3(ATP7B):c.-122_-118dup
|
rs1555304635
|
|
NM_000053.3(ATP7B):c.-127CG[2][1]
|
rs1555304648
|
|
NM_000053.3(ATP7B):c.-127_-126GC[2][1]
|
rs1322135702
|
|
NM_000053.3(ATP7B):c.-128_-127insGCCGT
|
rs766338038
|
|
NM_000053.3(ATP7B):c.-676_-659dup
|
rs1555304816
|
|
NM_000053.4(ATP7B):c.-388C>T
|
rs913869716
|
|
NM_000053.4(ATP7B):c.-436_-422del
|
rs1484840087
|
|
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
|
rs1057516516
|
|
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)
|
rs778490238
|
|
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)
|
rs1555296939
|
|
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)
|
rs1555296015
|
|
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)
|
rs1057517141
|
|
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)
|
rs1057517444
|
|
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)
|
rs1057516305
|
|
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)
|
rs1555295017
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1544-2A>C
|
rs1555294398
|
|
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)
|
rs773385516
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
NM_000053.4(ATP7B):c.1700_1707+16del
|
rs1555294199
|
|
NM_000053.4(ATP7B):c.1708-1G>A
|
rs137853280
|
|
NM_000053.4(ATP7B):c.1708-2A>G
|
rs1057517024
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.2035del (p.His679fs)
|
rs786204764
|
|
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)
|
rs1555291848
|
|
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del)
|
rs770107276
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del)
|
rs1555291787
|
|
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)
|
rs1555291784
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His)
|
rs1555291272
|
|
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)
|
rs751202110
|
|
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro)
|
rs1555291265
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)
|
rs1555291207
|
|
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)
|
rs1555291195
|
|
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)
|
rs1555291181
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2304del (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val)
|
rs1217463955
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)
|
rs28942074
|
|
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg)
|
rs1555291085
|
|
NM_000053.4(ATP7B):c.2356-1G>A
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-1G>C
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe)
|
rs1555290883
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)
|
rs1555290810
|
|
NM_000053.4(ATP7B):c.2447+1del
|
rs1057516732
|
|
NM_000053.4(ATP7B):c.2447+2T>G
|
rs1555290800
|
|
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2575+1G>A
|
rs766149114
|
|
NM_000053.4(ATP7B):c.2576-2A>G
|
rs757265256
|
|
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly)
|
rs1555288669
|
|
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)
|
rs376355660
|
|
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp)
|
rs483352684
|
|
NM_000053.4(ATP7B):c.268_270del (p.Lys90del)
|
rs751970838
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
|
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)
|
rs1555288479
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)
|
rs1555288385
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del)
|
rs1424494639
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His)
|
rs201038679
|
|
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser)
|
rs1555287372
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala)
|
rs1416453532
|
|
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)
|
rs1555286633
|
|
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)
|
rs1555286628
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)
|
rs1555286522
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)
|
rs1555285393
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly)
|
rs755554442
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser)
|
rs777879359
|
|
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)
|
rs1555285311
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)
|
rs748924063
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)
|
rs1555284582
|
|
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly)
|
rs1555284575
|
|
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)
|
rs781266802
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)
|
rs1486594906
|
|
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)
|
rs1555283994
|
|
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala)
|
rs587783316
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)
|
rs1555283916
|
|
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)
|
rs1057516740
|
|
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)
|
rs1555283900
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val)
|
rs1555283882
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)
|
rs1555283826
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)
|
rs1057517384
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3904-2A>G
|
rs1057517233
|
|
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)
|
rs1057516227
|
|
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)
|
rs1057516228
|
|
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr)
|
rs760285767
|
|
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)
|
rs1555283564
|
|
NM_000053.4(ATP7B):c.4022-2A>C
|
rs1555282816
|
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)
|
rs1555282751
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)
|
rs1555282678
|
|
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)
|
rs755584106
|
|
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)
|
rs780811477
|
|
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser)
|
rs1365425480
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)
|
rs1057517191
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs)
|
rs774744497
|
|
NM_000053.4(ATP7B):c.432_434del (p.Val145del)
|
rs1555296674
|
|
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs)
|
rs1555282097
|
|
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe)
|
rs183365083
|
|
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)
|
rs1392030070
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.525dup (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)
|
rs1555296472
|
|
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)
|
rs1555296414
|
|
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del)
|
rs1417723997
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
|
rs761084829
|
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
|
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter)
|
rs1057517265
|
|
NM_000055.4(BCHE):c.1027dup (p.Thr343fs)
|
rs754214624
|
|
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter)
|
rs1553778114
|
|
NM_000055.4(BCHE):c.1073dup (p.Leu358fs)
|
rs1057516450
|
|
NM_000055.4(BCHE):c.110del (p.Lys37fs)
|
rs1057517439
|
|
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter)
|
rs1057517221
|
|
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter)
|
rs1278095773
|
|
NM_000055.4(BCHE):c.1240del (p.Arg414fs)
|
rs1057517288
|
|
NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del)
|
rs1398106709
|
|
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter)
|
rs762341786
|
|
NM_000055.4(BCHE):c.1372dup (p.Trp458fs)
|
rs1553778044
|
|
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter)
|
rs1553778017
|
|
NM_000055.4(BCHE):c.149del (p.Gly50fs)
|
rs762189020
|
|
NM_000055.4(BCHE):c.1615dup (p.Met539fs)
|
rs1553774172
|
|
NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter)
|
rs747099939
|
|
NM_000055.4(BCHE):c.1684+1G>T
|
rs1057516496
|
|
NM_000055.4(BCHE):c.1685-2A>G
|
rs779366544
|
|
NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup)
|
rs1553772963
|
|
NM_000055.4(BCHE):c.185C>T (p.Ala62Val)
|
rs1553778274
|
|
NM_000055.4(BCHE):c.206_207del (p.Leu69fs)
|
rs1057516784
|
|
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser)
|
rs3732880
|
|
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs)
|
rs398124632
|
|
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter)
|
rs760182781
|
|
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter)
|
rs1553778291
|
|
NM_000055.4(BCHE):c.493del (p.Glu165fs)
|
rs1057516707
|
|
NM_000055.4(BCHE):c.495_498del (p.Arg166fs)
|
rs772259613
|
|
NM_000055.4(BCHE):c.611del (p.Gln204fs)
|
rs1553778198
|
|
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter)
|
rs568724445
|
|
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter)
|
rs1057517208
|
|
NM_000055.4(BCHE):c.662del (p.Thr221fs)
|
rs1553778185
|
|
NM_000055.4(BCHE):c.666_667del (p.Phe223fs)
|
rs747983616
|
|
NM_000055.4(BCHE):c.687del (p.Ala230fs)
|
rs1553778179
|
|
NM_000055.4(BCHE):c.793del (p.Tyr265fs)
|
rs778568717
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)
|
rs1555419001
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
NM_000057.4(BLM):c.1114del (p.Ile373fs)
|
rs1555419704
|
|
NM_000057.4(BLM):c.1151del (p.Asp384fs)
|
rs1555419724
|
|
NM_000057.4(BLM):c.1210del (p.Arg404fs)
|
rs1555419742
|
|
NM_000057.4(BLM):c.1220+1G>A
|
rs1555419748
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)
|
rs778786003
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)
|
rs878853553
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr)
|
rs1555419932
|
|
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)
|
rs1555419934
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs)
|
rs1057517266
|
|
NM_000057.4(BLM):c.1740del (p.Thr581fs)
|
rs1057517432
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1795del (p.Arg599fs)
|
rs1057517431
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1883-2A>G
|
rs1555420142
|
|
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)
|
rs587778110
|
|
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del)
|
rs1555420164
|
|
NM_000057.4(BLM):c.1978C>T (p.His660Tyr)
|
rs139688226
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.1A>C (p.Met1Leu)
|
rs1215497457
|
|
NM_000057.4(BLM):c.204C>A (p.Thr68=)
|
rs199927688
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr)
|
rs28406486
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del)
|
rs1555418278
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2407-1G>A
|
rs1555420871
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
NM_000057.4(BLM):c.2407-9del
|
rs747699258
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.24T>G (p.Asn8Lys)
|
rs1060500635
|
|
NM_000057.4(BLM):c.2555+1G>T
|
rs1555420917
|
|
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)
|
rs1555418301
|
|
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)
|
rs1057516452
|
|
NM_000057.4(BLM):c.2807del (p.Asn936fs)
|
rs1245531016
|
|
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)
|
rs1057516700
|
|
NM_000057.4(BLM):c.2824-1G>C
|
rs1555423062
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.3022del (p.Glu1008fs)
|
rs1057516719
|
|
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)
|
rs1555423425
|
|
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del)
|
rs1555418313
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)
|
rs762716289
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)
|
rs1057516728
|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.3901del (p.Leu1301fs)
|
rs1555425063
|
|
NM_000057.4(BLM):c.3917del (p.Gly1306fs)
|
rs764086459
|
|
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)
|
rs1555425074
|
|
NM_000057.4(BLM):c.3956del (p.Ile1319fs)
|
rs1555425080
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs)
|
rs1555425105
|
|
NM_000057.4(BLM):c.4122C>T (p.Ser1374=)
|
rs145277875
|
|
NM_000057.4(BLM):c.4123del (p.Ser1375fs)
|
rs1555425410
|
|
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter)
|
rs1555425417
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys)
|
rs1555425441
|
|
NM_000057.4(BLM):c.443dup (p.Leu148fs)
|
rs1057516297
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)
|
rs773427744
|
|
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup)
|
rs1555418362
|
|
NM_000057.4(BLM):c.543del (p.Ser181fs)
|
rs1555418380
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.662_665del (p.Thr221fs)
|
rs1057517229
|
|
NM_000057.4(BLM):c.678_680dup (p.Asp227dup)
|
rs1555418424
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.942del (p.Ser315fs)
|
rs1555418701
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
NM_000057.4(BLM):c.98+3_98+6del
|
rs1555418015
|
|
NM_000057.4(BLM):c.99-1G>C
|
rs897262346
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.4131_4132ins6
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
|
NM_000059.4(BRCA2):c.10150C>G (p.Arg3384Gly)
|
rs397507568
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=)
|
rs786203441
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)
|
rs1555281716
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr)
|
rs1057517562
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)
|
rs397507579
|
|
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)
|
rs587776459
|
|
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu)
|
rs80358430
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
rs786202916
|
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
rs138734772
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala)
|
rs80358457
|
|
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)
|
rs1555282048
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
|
NM_000059.4(BRCA2):c.189A>C (p.Lys63Asn)
|
rs80358480
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1910-2A>T
|
rs1228762581
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)
|
rs80358484
|
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
rs80358490
|
|
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile)
|
rs55824746
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)
|
rs56331088
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
rs80358524
|
|
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)
|
rs276174825
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
rs730881515
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
rs397507293
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
rs730881517
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)
|
rs80358538
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)
|
rs398122759
|
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
rs80358549
|
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
rs764921920
|
|
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)
|
rs1057517566
|
|
NM_000059.4(BRCA2):c.308dup (p.Leu103fs)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
rs276174832
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)
|
rs80359383
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)
|
rs1555283219
|
|
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)
|
rs80358590
|
|
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)
|
rs431825307
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3612T>C (p.Ala1204=)
|
rs863224305
|
|
NM_000059.4(BRCA2):c.3758C>T (p.Ala1253Val)
|
rs730881527
|
|
NM_000059.4(BRCA2):c.3767del (p.His1256fs)
|
rs1555283393
|
|
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)
|
rs886038094
|
|
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)
|
rs1555283397
|
|
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)
|
rs397507686
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)
|
rs397507319
|
|
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)
|
rs397507320
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)
|
rs878853577
|
|
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly)
|
rs1060502476
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)
|
rs80358655
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
rs55796504
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4110C>A (p.Gly1370=)
|
rs758430181
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile)
|
rs80358661
|
|
NM_000059.4(BRCA2):c.4216_4218del (p.Lys1406del)
|
rs758636052
|
|
NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala)
|
rs878853581
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile)
|
rs786202874
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
NM_000059.4(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile)
|
rs786202031
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)
|
rs1057517636
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=)
|
rs206075
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
rs80359788
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs)
|
rs1555283876
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.475+14C>T
|
rs55698822
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
rs80358707
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.487A>C (p.Ser163Arg)
|
rs767985386
|
|
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val)
|
rs80358713
|
|
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)
|
rs397507342
|
|
NM_000059.4(BRCA2):c.4935del (p.Glu1646fs)
|
rs80359472
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer)
|
rs879254123
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
NM_000059.4(BRCA2):c.517-12C>A
|
rs398122795
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter)
|
rs1555284111
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)
|
rs1555284120
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)
|
rs786201560
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)
|
rs80358767
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
rs80358770
|
|
NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)
|
rs1057517595
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
rs80358775
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)
|
rs886040598
|
|
NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly)
|
rs786202808
|
|
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)
|
rs80358783
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)
|
rs876658494
|
|
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)
|
rs397507798
|
|
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)
|
rs80358799
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)
|
rs1555284402
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His)
|
rs587783043
|
|
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)
|
rs397507363
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)
|
rs397507826
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs)
|
rs1555284538
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
NM_000059.4(BRCA2):c.6198_6199del (p.Ser2067fs)
|
rs80359564
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+2T>A
|
rs81002899
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
rs1403648108
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=)
|
rs746099644
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter)
|
rs397507860
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys)
|
rs397507374
|
|
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)
|
rs397507374
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6601T>C (p.Ser2201Pro)
|
rs869320796
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe)
|
rs1057517557
|
|
NM_000059.4(BRCA2):c.67+16A>T
|
rs529148674
|
|
NM_000059.4(BRCA2):c.67+19del
|
rs1555280125
|
|
NM_000059.4(BRCA2):c.67+2T>C
|
rs81002885
|
|
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)
|
rs1555284811
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg)
|
rs80358903
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.681+8_681+11del
|
rs1555281365
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)
|
rs80358908
|
|
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)
|
rs761744738
|
|
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)
|
rs886040932
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.6907T>C (p.Ser2303Pro)
|
rs1060502494
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
NM_000059.4(BRCA2):c.6959T>C (p.Leu2320Ser)
|
rs80358923
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-20_7008-17del
|
rs276174887
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7022G>T (p.Arg2341Leu)
|
rs786202839
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7037A>G (p.Asn2346Ser)
|
rs397507381
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)
|
rs398122575
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)
|
rs80359637
|
|
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=)
|
rs276174891
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
rs80358951
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)
|
rs80358957
|
|
NM_000059.4(BRCA2):c.7331A>G (p.Asp2444Gly)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.7343A>G (p.Lys2448Arg)
|
rs431825353
|
|
NM_000059.4(BRCA2):c.734G>C (p.Arg245Thr)
|
rs879255462
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7398A>G (p.Val2466=)
|
rs863224311
|
|
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr)
|
rs80358963
|
|
NM_000059.4(BRCA2):c.7436-10T>C
|
rs398122582
|
|
NM_000059.4(BRCA2):c.7436-19A>G
|
rs398122583
|
|
NM_000059.4(BRCA2):c.7487A>C (p.Lys2496Thr)
|
rs80358975
|
|
NM_000059.4(BRCA2):c.7493A>C (p.Lys2498Thr)
|
rs587776469
|
|
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=)
|
rs140693106
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe)
|
rs571800995
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)
|
rs397507388
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.764dup (p.Asn255fs)
|
rs1555281474
|
|
NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys)
|
rs876659501
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7806-3C>G
|
rs863224598
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.794-17G>A
|
rs750013303
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly)
|
rs80359039
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg)
|
rs587781889
|
|
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly)
|
rs398122597
|
|
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)
|
rs80359696
|
|
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)
|
rs80359059
|
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
rs863224469
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8246AGA[1] (p.Lys2750del)
|
rs80359703
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8324T>A (p.Met2775Lys)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8331+15A>G
|
rs550087774
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)
|
rs80359707
|
|
NM_000059.4(BRCA2):c.8352G>A (p.Arg2784=)
|
rs747664806
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
|
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8438G>A (p.Gly2813Glu)
|
rs80359092
|
|
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)
|
rs56096120
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)
|
rs80359098
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)
|
rs80359102
|
|
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)
|
rs863224599
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)
|
rs80359139
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)
|
rs276174913
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)
|
rs80359146
|
|
NM_000059.4(BRCA2):c.8953+16del
|
rs1555288414
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
NM_000059.4(BRCA2):c.8958A>G (p.Ile2986Met)
|
rs398122719
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9117+9C>T
|
rs81002869
|
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
rs80359170
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
rs201561974
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
NM_000059.4(BRCA2):c.9256+1G>A
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)
|
rs80359200
|
|
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)
|
rs80359203
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)
|
rs397507426
|
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
rs80359216
|
|
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)
|
rs587776476
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu)
|
rs397508057
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu)
|
rs397507432
|
|
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp)
|
rs80359235
|
|
NM_000059.4(BRCA2):c.9648+1G>A
|
rs730881573
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
NM_000059.4(BRCA2):c.9746C>T (p.Thr3249Ile)
|
rs1555289943
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)
|
rs1555421271
|
|
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)
|
rs1555421280
|
|
NM_000070.3(CAPN3):c.1115+1G>A
|
rs1555421293
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1198del (p.Ser400fs)
|
rs1555421842
|
|
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)
|
rs1555421847
|
|
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)
|
rs1555421854
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)
|
rs727503838
|
|
NM_000070.3(CAPN3):c.1355-6G>T
|
rs28364485
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)
|
rs557164942
|
|
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)
|
rs1555422136
|
|
NM_000070.3(CAPN3):c.1524+1G>T
|
rs1275289254
|
|
NM_000070.3(CAPN3):c.1537-40C>G
|
rs1172112518
|
|
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)
|
rs1555422293
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)
|
rs1555422298
|
|
NM_000070.3(CAPN3):c.1711del (p.Leu571fs)
|
rs1334369407
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1833CAA[1] (p.Asn612del)
|
rs1555422829
|
|
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)
|
rs1555422832
|
|
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)
|
rs1555422839
|
|
NM_000070.3(CAPN3):c.1882del (p.Thr628fs)
|
rs1555422847
|
|
NM_000070.3(CAPN3):c.1914+13G>C
|
rs769337232
|
|
NM_000070.3(CAPN3):c.1914+2T>C
|
rs1555422856
|
|
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs)
|
rs1555422954
|
|
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)
|
rs777636094
|
|
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg)
|
rs1555422962
|
|
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del)
|
rs770529441
|
|
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)
|
rs1555423015
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
NM_000070.3(CAPN3):c.2050+1G>A
|
rs768374736
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2051-1G>C
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)
|
rs1555423046
|
|
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)
|
rs867628179
|
|
NM_000070.3(CAPN3):c.2115+1_2115+2dup
|
rs760919949
|
|
NM_000070.3(CAPN3):c.212del (p.Lys71fs)
|
rs1555417321
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2184+2T>C
|
rs1555423146
|
|
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup)
|
rs1555423156
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His)
|
rs201012232
|
|
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys)
|
rs1555417323
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del)
|
rs1555423200
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)
|
rs764086484
|
|
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr)
|
rs1457098622
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln)
|
rs1555417328
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2440-6_2440-3del
|
rs1555423426
|
|
NM_000070.3(CAPN3):c.2440-8_2440-7insA
|
rs1555423427
|
|
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)
|
rs1555417257
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000070.3(CAPN3):c.369del (p.Gly124fs)
|
rs1555420083
|
|
NM_000070.3(CAPN3):c.380-8_395del
|
rs1555420302
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)
|
rs768426565
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000070.3(CAPN3):c.632+4A>G
|
rs1555420507
|
|
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)
|
rs1555420629
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn)
|
rs1251403881
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del)
|
rs1555417278
|
|
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu)
|
rs762020512
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000070.3(CAPN3):c.835_837del (p.Ser279del)
|
rs776185666
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
NM_000070.3(CAPN3):c.945+5G>A
|
rs773547765
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000071.3(CBS):c.*19G>A
|
rs1555869794
|
|
NM_000071.3(CBS):c.*19G>C
|
rs1555869794
|
|
NM_000071.3(CBS):c.*20T>C
|
rs1555869789
|
|
NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer)
|
rs1555873925
|
|
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)
|
rs863223436
|
|
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)
|
rs1555872822
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1219_1223+8del
|
rs1555872787
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)
|
rs1555872506
|
|
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)
|
rs1282119406
|
|
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)
|
rs1057516645
|
|
NM_000071.3(CBS):c.1358+1G>A
|
rs786204679
|
|
NM_000071.3(CBS):c.1358+2T>C
|
rs866630296
|
|
NM_000071.3(CBS):c.1359-1G>C
|
rs865990681
|
|
NM_000071.3(CBS):c.1468-1G>A
|
rs1057516895
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
NM_000071.3(CBS):c.1545del (p.Ile516fs)
|
rs1555871095
|
|
NM_000071.3(CBS):c.1552+1G>A
|
rs1434118781
|
|
NM_000071.3(CBS):c.1553-1G>C
|
rs1555869979
|
|
NM_000071.3(CBS):c.1553-2A>C
|
rs760609383
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)
|
rs1555869958
|
|
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)
|
rs1555869934
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)
|
rs1365095601
|
|
NM_000071.3(CBS):c.18_36del (p.Glu9fs)
|
rs1057516552
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
NM_000071.3(CBS):c.209+2T>C
|
rs1555876755
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.316+1G>A
|
rs1057516256
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)
|
rs1555875325
|
|
NM_000071.3(CBS):c.451+1G>T
|
rs1555875292
|
|
NM_000071.3(CBS):c.467del (p.Leu156fs)
|
rs767036273
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.539T>C (p.Val180Ala)
|
rs1555875010
|
|
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)
|
rs1555874874
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)
|
rs1057517435
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000071.3(CBS):c.829-1G>C
|
rs1555874263
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)
|
rs746575551
|
|
NM_000071.3(CBS):c.954+1G>A
|
rs1057517373
|
|
NM_000071.3(CBS):c.954+2T>G
|
rs1555874121
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del)
|
rs770784286
|
|
NM_000075.4(CDK4):c.505_522+5del
|
rs1555201295
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.150+104_150+105del
|
rs1057517608
|
|
NM_000077.5(CDKN2A):c.150+1104C>T
|
rs756102261
|
|
NM_000077.5(CDKN2A):c.150+170dup
|
rs753316964
|
|
NM_000077.5(CDKN2A):c.150+193G>A
|
rs1057517587
|
|
NM_000077.5(CDKN2A):c.150+71_150+76del
|
rs753508262
|
|
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
|
rs104894099
|
|
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)
|
rs730881675
|
|
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)
|
rs34886500
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser)
|
rs778971134
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)
|
rs104894098
|
|
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)
|
rs45476696
|
|
NM_000077.5(CDKN2A):c.458-465G>C
|
rs563204204
|
|
NM_000082.4(ERCC8):c.1006del (p.Thr336fs)
|
rs1554072703
|
|
NM_000082.4(ERCC8):c.1042-1G>C
|
rs897535441
|
|
NM_000082.4(ERCC8):c.1125del (p.Thr376fs)
|
rs1554071508
|
|
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)
|
rs754890794
|
|
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)
|
rs1554071495
|
|
NM_000082.4(ERCC8):c.276-2A>G
|
rs1554074597
|
|
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)
|
rs1131691783
|
|
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)
|
rs1404477615
|
|
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)
|
rs774542633
|
|
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)
|
rs1249878855
|
|
NM_000082.4(ERCC8):c.482-2A>G
|
rs1554073420
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000082.4(ERCC8):c.562_564del (p.Glu188del)
|
rs1404307838
|
|
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter)
|
rs1554073177
|
|
NM_000082.4(ERCC8):c.679del (p.Asp227fs)
|
rs1554073175
|
|
NM_000082.4(ERCC8):c.719-2A>G
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.719-2A>T
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.77+2T>G
|
rs1554076239
|
|
NM_000082.4(ERCC8):c.928del (p.Val310fs)
|
rs1554072713
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del)
|
rs1553755078
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del)
|
rs1553755767
|
|
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)
|
rs745472969
|
|
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)
|
rs1553749403
|
|
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)
|
rs1553757060
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1])
|
rs1444785718
|
|
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)
|
rs1553758893
|
|
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)
|
rs1553758919
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2])
|
rs1553759665
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)
|
rs1553725815
|
|
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del)
|
rs1553750572
|
|
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)
|
rs1553762279
|
|
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3])
|
rs1553762295
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.325-18G>T
|
rs777117192
|
|
NM_000091.5(COL4A3):c.325-1G>A
|
rs762518741
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del)
|
rs756342074
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.3883-2A>G
|
rs1553765265
|
|
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup)
|
rs1476762825
|
|
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)
|
rs941454321
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)
|
rs1445615417
|
|
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)
|
rs1553766363
|
|
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu)
|
rs1553766367
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4640+1G>A
|
rs1553766404
|
|
NM_000091.5(COL4A3):c.468+1G>A
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
NM_000091.5(COL4A3):c.4756-1G>A
|
rs1553766735
|
|
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del)
|
rs775551399
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)
|
rs1351781261
|
|
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs)
|
rs1553766929
|
|
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg)
|
rs1553766932
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.645+2T>C
|
rs1553752199
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.713dup (p.Pro240fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.829-2A>C
|
rs1553753119
|
|
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)
|
rs1422638161
|
|
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs)
|
rs1553690604
|
|
NM_000092.5(COL4A4):c.1029+2T>C
|
rs1553682895
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.114+1G>C
|
rs1553712110
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp)
|
rs1553669704
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1])
|
rs764884579
|
|
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)
|
rs1553644402
|
|
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup)
|
rs777985749
|
|
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup)
|
rs1553644306
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
NM_000092.5(COL4A4):c.2383+2_2383+5dup
|
rs1553643488
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)
|
rs748473278
|
|
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val)
|
rs772699709
|
|
NM_000092.5(COL4A4):c.3151-2A>G
|
rs1369097739
|
|
NM_000092.5(COL4A4):c.328-1G>A
|
rs754669149
|
|
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu)
|
rs1553696235
|
|
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del)
|
rs780991255
|
|
NM_000092.5(COL4A4):c.372+2T>G
|
rs1553696207
|
|
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg)
|
rs1553625644
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr)
|
rs754359129
|
|
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala)
|
rs1553624173
|
|
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs)
|
rs1553624127
|
|
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala)
|
rs1331634432
|
|
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn)
|
rs1369617472
|
|
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe)
|
rs16823077
|
|
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys)
|
rs747708741
|
|
NM_000092.5(COL4A4):c.4081+14C>T
|
rs1553623984
|
|
NM_000092.5(COL4A4):c.4081+15T>C
|
rs1356475870
|
|
NM_000092.5(COL4A4):c.4081+22A>C
|
rs1553623967
|
|
NM_000092.5(COL4A4):c.4081+22A>G
|
rs1553623967
|
|
NM_000092.5(COL4A4):c.4091-323A>G
|
rs774221440
|
|
NM_000092.5(COL4A4):c.4091-346A>G
|
rs753906137
|
|
NM_000092.5(COL4A4):c.4091-348T>C
|
rs1553620812
|
|
NM_000092.5(COL4A4):c.4091-349G>A
|
rs1434118080
|
|
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)
|
rs1553695389
|
|
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp)
|
rs1553614863
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
|
rs1553612499
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)
|
rs1553695272
|
|
NM_000092.5(COL4A4):c.4809+1G>A
|
rs1553612309
|
|
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)
|
rs768416358
|
|
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)
|
rs1553611947
|
|
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)
|
rs1553611909
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla)
|
rs1553688712
|
|
NM_000092.5(COL4A4):c.657+1G>T
|
rs1553688696
|
|
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)
|
rs1553688330
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000092.5(COL4A4):c.975+1G>C
|
rs1553683192
|
|
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs)
|
rs1553169720
|
|
NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)
|
rs1553169726
|
|
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)
|
rs1057517515
|
|
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter)
|
rs761438840
|
|
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)
|
rs754363068
|
|
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)
|
rs1057517492
|
|
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)
|
rs1057517525
|
|
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs)
|
rs1057517507
|
|
NM_000098.3(CPT2):c.1360_1362del (p.Glu454del)
|
rs1553169768
|
|
NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter)
|
rs1553169771
|
|
NM_000098.3(CPT2):c.1404G>T (p.Gln468His)
|
rs140771069
|
|
NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter)
|
rs1469108369
|
|
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)
|
rs1553169787
|
|
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr)
|
rs1553169799
|
|
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)
|
rs1057517477
|
|
NM_000098.3(CPT2):c.1563del (p.Arg522fs)
|
rs1229197873
|
|
NM_000098.3(CPT2):c.1608dup (p.Lys537fs)
|
rs1553169813
|
|
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)
|
rs1057517517
|
|
NM_000098.3(CPT2):c.1645+2T>G
|
rs1057517473
|
|
NM_000098.3(CPT2):c.1767del (p.Ser590fs)
|
rs1553169973
|
|
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter)
|
rs1553170005
|
|
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del)
|
rs1553170006
|
|
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)
|
rs28936673
|
|
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)
|
rs1553170029
|
|
NM_000098.3(CPT2):c.1933dup (p.Glu645fs)
|
rs1553170033
|
|
NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter)
|
rs1553170035
|
|
NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys)
|
rs1553170038
|
|
NM_000098.3(CPT2):c.302del (p.Ala101fs)
|
rs1553169106
|
|
NM_000098.3(CPT2):c.37_39del (p.Gly13del)
|
rs1553168847
|
|
NM_000098.3(CPT2):c.38del (p.Gly13fs)
|
rs786204647
|
|
NM_000098.3(CPT2):c.401_404del (p.Phe134fs)
|
rs1553169598
|
|
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)
|
rs28936674
|
|
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)
|
rs1057517510
|
|
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter)
|
rs755830520
|
|
NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter)
|
rs755830520
|
|
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)
|
rs1553169629
|
|
NM_000098.3(CPT2):c.670del (p.Thr224fs)
|
rs762366252
|
|
NM_000098.3(CPT2):c.725del (p.His242fs)
|
rs1553169666
|
|
NM_000098.3(CPT2):c.72_97del (p.Leu25fs)
|
rs1553168850
|
|
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp)
|
rs1360046080
|
|
NM_000098.3(CPT2):c.748_749del (p.Asn250fs)
|
rs1187631754
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000098.3(CPT2):c.879_880del (p.Ser293fs)
|
rs1195259425
|
|
NM_000098.3(CPT2):c.95del (p.Gly32fs)
|
rs1057517494
|
|
NM_000098.3(CPT2):c.989dup (p.Ile332fs)
|
rs1553169716
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
NM_000108.5(DLD):c.118+1G>T
|
rs1554396908
|
|
NM_000108.5(DLD):c.1236+1G>T
|
rs1554400483
|
|
NM_000108.5(DLD):c.1421del (p.Gly474fs)
|
rs1554400699
|
|
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)
|
rs1554400704
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs)
|
rs777884525
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000108.5(DLD):c.198+1G>A
|
rs1554398193
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
NM_000108.5(DLD):c.223dup (p.Thr75fs)
|
rs1057517214
|
|
NM_000108.5(DLD):c.268-2A>G
|
rs1554398461
|
|
NM_000108.5(DLD):c.338-2_338-1delinsT
|
rs1554398624
|
|
NM_000108.5(DLD):c.345del (p.Val116fs)
|
rs1554398625
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
NM_000108.5(DLD):c.82del (p.Ser28fs)
|
rs764704217
|
|
NM_000108.5(DLD):c.865dup (p.Ile289fs)
|
rs1554400179
|
|
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs)
|
rs1553201476
|
|
NM_000110.4(DPYD):c.1070G>A (p.Arg357His)
|
rs377143350
|
|
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)
|
rs749571474
|
|
NM_000110.4(DPYD):c.1121del (p.Pro374fs)
|
rs1553201443
|
|
NM_000110.4(DPYD):c.1178del (p.Pro393fs)
|
rs1553197926
|
|
NM_000110.4(DPYD):c.1311del (p.Phe438fs)
|
rs1057517189
|
|
NM_000110.4(DPYD):c.1316del (p.Gly439fs)
|
rs1057516761
|
|
NM_000110.4(DPYD):c.1339+1G>T
|
rs1057516357
|
|
NM_000110.4(DPYD):c.1340-2A>G
|
rs1057516713
|
|
NM_000110.4(DPYD):c.1379dup (p.Leu461fs)
|
rs779948148
|
|
NM_000110.4(DPYD):c.150+2T>A
|
rs1057516405
|
|
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer)
|
rs1057516615
|
|
NM_000110.4(DPYD):c.1524+1G>A
|
rs1057517126
|
|
NM_000110.4(DPYD):c.1671del (p.Ser558fs)
|
rs1057517018
|
|
NM_000110.4(DPYD):c.1727del (p.Phe576fs)
|
rs764584080
|
|
NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter)
|
rs1057516671
|
|
NM_000110.4(DPYD):c.1970del (p.Ser657fs)
|
rs1057516710
|
|
NM_000110.4(DPYD):c.2003del (p.Asn668fs)
|
rs1057517055
|
|
NM_000110.4(DPYD):c.2039dup (p.Met680fs)
|
rs1057517396
|
|
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)
|
rs773499329
|
|
NM_000110.4(DPYD):c.2058+1G>C
|
rs769167857
|
|
NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly)
|
rs1553251908
|
|
NM_000110.4(DPYD):c.2177_2179+1del
|
rs1553251903
|
|
NM_000110.4(DPYD):c.2178del (p.Gly727fs)
|
rs1553251907
|
|
NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs)
|
rs1057516828
|
|
NM_000110.4(DPYD):c.232A>T (p.Arg78Ter)
|
rs776692894
|
|
NM_000110.4(DPYD):c.233+1G>T
|
rs1553247675
|
|
NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs)
|
rs1057516510
|
|
NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter)
|
rs1057517271
|
|
NM_000110.4(DPYD):c.2589dup (p.Pro864fs)
|
rs1057517327
|
|
NM_000110.4(DPYD):c.2622+1G>A
|
rs1057517095
|
|
NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter)
|
rs1057516873
|
|
NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter)
|
rs1553212596
|
|
NM_000110.4(DPYD):c.2748del (p.Arg916fs)
|
rs1057517230
|
|
NM_000110.4(DPYD):c.2754del (p.Pro919fs)
|
rs1057516894
|
|
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)
|
rs748639205
|
|
NM_000110.4(DPYD):c.2908-1G>A
|
rs1553209268
|
|
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs)
|
rs1459699844
|
|
NM_000110.4(DPYD):c.322-1G>C
|
rs1057516356
|
|
NM_000110.4(DPYD):c.45C>A (p.Ile15=)
|
rs267598790
|
|
NM_000110.4(DPYD):c.523del (p.Ser175fs)
|
rs1057516997
|
|
NM_000110.4(DPYD):c.762+2T>C
|
rs1057517065
|
|
NM_000110.4(DPYD):c.851-1G>C
|
rs1057516696
|
|
NM_000110.4(DPYD):c.910del (p.Tyr304fs)
|
rs1057516711
|
|
NM_000112.4(SLC26A2):c.1023AGC[3] (p.Ala343dup)
|
rs1554095304
|
|
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)
|
rs1057517532
|
|
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs)
|
rs1057517471
|
|
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs)
|
rs1057517502
|
|
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)
|
rs386833495
|
|
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
|
rs1057517511
|
|
NM_000112.4(SLC26A2):c.1596del (p.Val533fs)
|
rs1554095356
|
|
NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs)
|
rs769657401
|
|
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)
|
rs1057517482
|
|
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)
|
rs1554095364
|
|
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)
|
rs1057517530
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.1859del (p.Lys620fs)
|
rs1554095381
|
|
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)
|
rs1057517523
|
|
NM_000112.4(SLC26A2):c.188del (p.Asp63fs)
|
rs1057517496
|
|
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)
|
rs1481910744
|
|
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)
|
rs1057517474
|
|
NM_000112.4(SLC26A2):c.1956_1957dup (p.Cys653fs)
|
rs1554095395
|
|
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)
|
rs386833499
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs)
|
rs1057517513
|
|
NM_000112.4(SLC26A2):c.207del (p.Phe69fs)
|
rs1057517462
|
|
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)
|
rs761932822
|
|
NM_000112.4(SLC26A2):c.2121_2123del (p.Leu708del)
|
rs1554095431
|
|
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)
|
rs1057517504
|
|
NM_000112.4(SLC26A2):c.247GCCAAA[1] (p.83AK[1])
|
rs1554095123
|
|
NM_000112.4(SLC26A2):c.325_326del (p.Leu109fs)
|
rs1554095125
|
|
NM_000112.4(SLC26A2):c.326_331dup (p.Gly110_Asp111insValGly)
|
rs1554095126
|
|
NM_000112.4(SLC26A2):c.387T>G (p.Tyr129Ter)
|
rs1554095137
|
|
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)
|
rs786200881
|
|
NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile)
|
rs1554095084
|
|
NM_000112.4(SLC26A2):c.438del (p.Phe146fs)
|
rs769859976
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)
|
rs763198695
|
|
NM_000112.4(SLC26A2):c.499del (p.Val167fs)
|
rs1554095145
|
|
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)
|
rs1057517483
|
|
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)
|
rs1554095154
|
|
NM_000112.4(SLC26A2):c.611T>G (p.Leu204Ter)
|
rs1554095156
|
|
NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs)
|
rs1554095097
|
|
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs)
|
rs1554095167
|
|
NM_000112.4(SLC26A2):c.699+2T>C
|
rs1057517461
|
|
NM_000112.4(SLC26A2):c.700-2A>G
|
rs1554095266
|
|
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs)
|
rs1057517524
|
|
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)
|
rs1057517514
|
|
NM_000112.4(SLC26A2):c.870del (p.Thr289_Trp290insTer)
|
rs1225601391
|
|
NM_000112.4(SLC26A2):c.918del (p.Thr307fs)
|
rs1057517526
|
|
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)
|
rs1057517495
|
|
NM_000112.4(SLC26A2):c.925del (p.Leu309fs)
|
rs1554095296
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=)
|
rs764159237
|
|
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)
|
rs764159237
|
|
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)
|
rs1554793268
|
|
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)
|
rs1554793270
|
|
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)
|
rs1284316063
|
|
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln)
|
rs772545860
|
|
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del)
|
rs751610688
|
|
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)
|
rs886047038
|
|
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=)
|
rs267602508
|
|
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)
|
rs779180885
|
|
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)
|
rs769020754
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
NM_000124.4(ERCC6):c.1397+1G>C
|
rs1554793174
|
|
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)
|
rs150762517
|
|
NM_000124.4(ERCC6):c.1527-2A>G
|
rs768608345
|
|
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)
|
rs752712823
|
|
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)
|
rs1554789393
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp)
|
rs1554788393
|
|
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe)
|
rs1554788383
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.214del (p.Leu72fs)
|
rs1554794640
|
|
NM_000124.4(ERCC6):c.2169+1G>A
|
rs1441655600
|
|
NM_000124.4(ERCC6):c.2286+1G>A
|
rs1362935450
|
|
NM_000124.4(ERCC6):c.2383-1G>A
|
rs1554787554
|
|
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)
|
rs886047036
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)
|
rs1554787509
|
|
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)
|
rs1554794620
|
|
NM_000124.4(ERCC6):c.2829+1G>A
|
rs1554875522
|
|
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu)
|
rs772104945
|
|
NM_000124.4(ERCC6):c.3071-1G>A
|
rs1554875287
|
|
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)
|
rs1342267719
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg)
|
rs1435512927
|
|
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)
|
rs886047034
|
|
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del)
|
rs1248870490
|
|
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)
|
rs1287286877
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)
|
rs1554875155
|
|
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)
|
rs1554875154
|
|
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser)
|
rs886042655
|
|
NM_000124.4(ERCC6):c.3778+1G>C
|
rs1554875114
|
|
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)
|
rs1386369933
|
|
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro)
|
rs1554874085
|
|
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)
|
rs1554874073
|
|
NM_000124.4(ERCC6):c.3984-2A>G
|
rs1554873973
|
|
NM_000124.4(ERCC6):c.4062+2T>A
|
rs1554873950
|
|
NM_000124.4(ERCC6):c.422+1G>C
|
rs1198472093
|
|
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter)
|
rs1554873743
|
|
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)
|
rs1554794360
|
|
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)
|
rs886047032
|
|
NM_000124.4(ERCC6):c.544-2A>G
|
rs1554794073
|
|
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)
|
rs577021605
|
|
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)
|
rs875989810
|
|
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)
|
rs1254008304
|
|
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)
|
rs765040780
|
|
NM_000128.4(F11):c.1028+1G>A
|
rs1316806485
|
|
NM_000128.4(F11):c.1075del (p.Ile359fs)
|
rs786204429
|
|
NM_000128.4(F11):c.1171G>A (p.Gly391Arg)
|
rs1554083456
|
|
NM_000128.4(F11):c.1217A>C (p.His406Pro)
|
rs901732635
|
|
NM_000128.4(F11):c.1232_1235del (p.Thr411fs)
|
rs1057517446
|
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
|
NM_000128.4(F11):c.1273T>A (p.Trp425Arg)
|
rs1554083512
|
|
NM_000128.4(F11):c.1283C>T (p.Thr428Ile)
|
rs1554083516
|
|
NM_000128.4(F11):c.1304+25_1304+28del
|
rs778294619
|
|
NM_000128.4(F11):c.1305-1G>A
|
rs1057517204
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
|
NM_000128.4(F11):c.1329del (p.Val444fs)
|
rs1554083727
|
|
NM_000128.4(F11):c.1362_1375del (p.Lys455fs)
|
rs1554083734
|
|
NM_000128.4(F11):c.1380_1383del (p.Phe460fs)
|
rs1554083736
|
|
NM_000128.4(F11):c.1390C>T (p.Gln464Ter)
|
rs1057517035
|
|
NM_000128.4(F11):c.1472dup (p.Asn491fs)
|
rs1554083753
|
|
NM_000128.4(F11):c.1478C>T (p.Thr493Ile)
|
rs1554083754
|
|
NM_000128.4(F11):c.1480+2T>C
|
rs1554083758
|
|
NM_000128.4(F11):c.1481-1G>C
|
rs1057516506
|
|
NM_000128.4(F11):c.1481-1G>T
|
rs1057516506
|
|
NM_000128.4(F11):c.155dup (p.Tyr52Ter)
|
rs1554081886
|
|
NM_000128.4(F11):c.1560dup (p.Tyr521fs)
|
rs1057516777
|
|
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs)
|
rs1554084031
|
|
NM_000128.4(F11):c.1676_1682del (p.Ile559fs)
|
rs1057517171
|
|
NM_000128.4(F11):c.16C>T (p.Gln6Ter)
|
rs1554081288
|
|
NM_000128.4(F11):c.1724C>A (p.Ser575Ter)
|
rs281875250
|
|
NM_000128.4(F11):c.1741T>C (p.Cys581Arg)
|
rs1554084164
|
|
NM_000128.4(F11):c.1789G>T (p.Glu597Ter)
|
rs281875251
|
|
NM_000128.4(F11):c.218+1G>A
|
rs1057516738
|
|
NM_000128.4(F11):c.218+4A>G
|
rs767240420
|
|
NM_000128.4(F11):c.219G>A (p.Trp73Ter)
|
rs762013077
|
|
NM_000128.4(F11):c.25_28del (p.His9fs)
|
rs1057516616
|
|
NM_000128.4(F11):c.291del (p.Tyr98fs)
|
rs1057517151
|
|
NM_000128.4(F11):c.2T>A (p.Met1Lys)
|
rs1554081281
|
|
NM_000128.4(F11):c.449C>T (p.Thr150Met)
|
rs1340928778
|
|
NM_000128.4(F11):c.486-2A>G
|
rs1057516695
|
|
NM_000128.4(F11):c.55+6delinsGAG
|
rs1554081299
|
|
NM_000128.4(F11):c.596-7_600del
|
rs1057517116
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
NM_000128.4(F11):c.751C>T (p.Gln251Ter)
|
rs754087775
|
|
NM_000128.4(F11):c.756A>T (p.Arg252Ser)
|
rs1441160252
|
|
NM_000128.4(F11):c.769del (p.Thr259fs)
|
rs1554082832
|
|
NM_000128.4(F11):c.908del (p.Gly303fs)
|
rs786204722
|
|
NM_000128.4(F11):c.961_962del (p.Cys321fs)
|
rs786204449
|
|
NM_000128.4(F11):c.964_965del (p.Thr322fs)
|
rs1057516431
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000128.4(F11):c.990del (p.Phe330fs)
|
rs1554082938
|
|
NM_000128.4(F11):c.990dup (p.Thr331fs)
|
rs1554082938
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1273G>C (p.Asp425His)
|
rs1555561398
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1360-16_1363dup
|
rs1555556321
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.1470+1G>A
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs)
|
rs1555554788
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)
|
rs587778310
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup)
|
rs1555581601
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.1901-1G>A
|
rs1485075318
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2015-1G>A
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)
|
rs878853662
|
|
NM_000135.4(FANCA):c.2602-2A>T
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)
|
rs1555545588
|
|
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)
|
rs1555545553
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2910del (p.Gly972fs)
|
rs1278836130
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)
|
rs1555540072
|
|
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)
|
rs1555540048
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)
|
rs1439817346
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs)
|
rs1555536361
|
|
NM_000135.4(FANCA):c.3626+1G>T
|
rs34885858
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)
|
rs1555535513
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)
|
rs1441710252
|
|
NM_000135.4(FANCA):c.3745del (p.Leu1249fs)
|
rs1555535472
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu)
|
rs1555534579
|
|
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe)
|
rs1010989878
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs)
|
rs1555534060
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del)
|
rs1555533593
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs)
|
rs1555532946
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4260+2T>A
|
rs1555532943
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
NM_000135.4(FANCA):c.513dup (p.Lys172fs)
|
rs1555574913
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.710-1G>C
|
rs1388128874
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)
|
rs878853666
|
|
NM_000135.4(FANCA):c.79+1G>C
|
rs1483028018
|
|
NM_000135.4(FANCA):c.80-1G>T
|
rs751076878
|
|
NM_000135.4(FANCA):c.827-1G>C
|
rs753728435
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4(FANCA):c.989_995del (p.His330fs)
|
rs1555564451
|
|
NM_000136.3(FANCC):c.1037dup (p.Ser347fs)
|
rs1057516248
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1072+1G>A
|
rs1554830789
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1144del (p.Gln382fs)
|
rs1057516313
|
|
NM_000136.3(FANCC):c.1151_1152del (p.His384fs)
|
rs1554830220
|
|
NM_000136.3(FANCC):c.1155-1G>A
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
NM_000136.3(FANCC):c.117del (p.Gln40fs)
|
rs1057517147
|
|
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)
|
rs1554829555
|
|
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg)
|
rs1554829543
|
|
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)
|
rs200719554
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
NM_000136.3(FANCC):c.1329+134del
|
rs1554829392
|
|
NM_000136.3(FANCC):c.1329+157C>T
|
rs1554829380
|
|
NM_000136.3(FANCC):c.1329+166_1329+168del
|
rs1554829374
|
|
NM_000136.3(FANCC):c.1329+169C>T
|
rs1554829373
|
|
NM_000136.3(FANCC):c.1329+181_1329+183del
|
rs587778328
|
|
NM_000136.3(FANCC):c.1329+246del
|
rs542091036
|
|
NM_000136.3(FANCC):c.1329+265T>G
|
rs1554829329
|
|
NM_000136.3(FANCC):c.1329+5del
|
rs878853670
|
|
NM_000136.3(FANCC):c.1330-8T>C
|
rs864622221
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)
|
rs1057516963
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
NM_000136.3(FANCC):c.1533+2T>C
|
rs1057517170
|
|
NM_000136.3(FANCC):c.1533+9C>T
|
rs863224323
|
|
NM_000136.3(FANCC):c.1534-1G>T
|
rs1364238660
|
|
NM_000136.3(FANCC):c.1534-2A>G
|
rs1554827166
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)
|
rs1554827136
|
|
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)
|
rs1057516455
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.165+1del
|
rs1554858249
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?)
|
rs1554827101
|
|
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)
|
rs567465885
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)
|
rs1057516384
|
|
NM_000136.3(FANCC):c.345+1del
|
rs1057516247
|
|
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.457-1G>T
|
rs1057516917
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del)
|
rs1554838595
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
NM_000136.3(FANCC):c.686+1G>T
|
rs1057517125
|
|
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)
|
rs776054094
|
|
NM_000136.3(FANCC):c.831del (p.Asp278fs)
|
rs1057516792
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup)
|
rs1554832862
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)
|
rs774648934
|
|
NM_000137.4(FAH):c.1156G>C (p.Asp386His)
|
rs1555442402
|
|
NM_000137.4(FAH):c.1181-1G>A
|
rs1057516333
|
|
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg)
|
rs1057516631
|
|
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly)
|
rs1057516631
|
|
NM_000137.4(FAH):c.14del (p.Pro5fs)
|
rs1057517341
|
|
NM_000137.4(FAH):c.193-2A>G
|
rs1555440522
|
|
NM_000137.4(FAH):c.298_300del (p.Thr100del)
|
rs1555440545
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000137.4(FAH):c.315-2A>G
|
rs1555440603
|
|
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)
|
rs121965074
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
NM_000137.4(FAH):c.456-2A>G
|
rs1555441251
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.461_491del (p.His154fs)
|
rs1057516684
|
|
NM_000137.4(FAH):c.492del (p.Ser165fs)
|
rs1057517113
|
|
NM_000137.4(FAH):c.497T>G (p.Val166Gly)
|
rs778387055
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.553+2_553+3del
|
rs1555441272
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)
|
rs1555441595
|
|
NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.780_781del (p.Pro261fs)
|
rs1057517436
|
|
NM_000137.4(FAH):c.81+2T>C
|
rs772895065
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.835del (p.Gln279fs)
|
rs1555441703
|
|
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs)
|
rs1555441852
|
|
NM_000137.4(FAH):c.885dup (p.Asp296Ter)
|
rs1555441861
|
|
NM_000137.4(FAH):c.960+1G>A
|
rs1057517201
|
|
NM_000137.4(FAH):c.961-2A>C
|
rs1555442289
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter)
|
rs1555560217
|
|
NM_000151.4(G6PC1):c.136del (p.Leu46fs)
|
rs1057517227
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu)
|
rs544563908
|
|
NM_000151.4(G6PC1):c.361A>G (p.Met121Val)
|
rs1555559733
|
|
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)
|
rs1555559741
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg)
|
rs1555558914
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.499dup (p.Cys167fs)
|
rs1057516630
|
|
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)
|
rs1555559991
|
|
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)
|
rs1555558920
|
|
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)
|
rs1485038937
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=)
|
rs1555560103
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)
|
rs1457925404
|
|
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)
|
rs1555560140
|
|
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del)
|
rs1305819623
|
|
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs)
|
rs1555560185
|
|
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)
|
rs863224022
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.-32-1G>C
|
rs1555598460
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser)
|
rs752002666
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
NM_000152.5(GAA):c.1195-1G>A
|
rs1555600166
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)
|
rs1555600194
|
|
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)
|
rs1555600212
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)
|
rs1555600488
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)
|
rs1555601409
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del)
|
rs1555601721
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg)
|
rs1555603113
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro)
|
rs1555603272
|
|
NM_000152.5(GAA):c.2746G>T (p.Val916Phe)
|
rs1221948995
|
|
NM_000152.5(GAA):c.2757del (p.Asn919fs)
|
rs1555603283
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet)
|
rs1555603411
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)
|
rs1555603436
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp)
|
rs958648168
|
|
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr)
|
rs1334316018
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])
|
rs1555598846
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
NM_000152.5(GAA):c.421C>A (p.Leu141Met)
|
rs1379595858
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)
|
rs1555599099
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
|
rs1555599637
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000153.2(GALC):c.-218G>C
|
rs1555384433
|
|
NM_000153.2(GALC):c.-219dup
|
rs1555384436
|
|
NM_000153.2(GALC):c.-234delGinsTTCC
|
rs1555384440
|
|
NM_000153.2(GALC):c.-257dup
|
rs1555384444
|
|
NM_000153.2(GALC):c.-285dup
|
rs1482465546
|
|
NM_000153.2(GALC):c.-296dup
|
rs1555384458
|
|
NM_000153.2(GALC):c.-317delG
|
rs1555384465
|
|
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)
|
rs886043419
|
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)
|
rs1057516270
|
|
NM_000153.4(GALC):c.110_123dup (p.Ala42fs)
|
rs1555384342
|
|
NM_000153.4(GALC):c.1162-5_1162-4delinsC
|
rs1555379806
|
|
NM_000153.4(GALC):c.1162-6_1162-5delinsA
|
rs1555379811
|
|
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)
|
rs572947747
|
|
NM_000153.4(GALC):c.120C>A (p.Gly40=)
|
rs532800656
|
|
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter)
|
rs1057517372
|
|
NM_000153.4(GALC):c.1273del (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.1273dup (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)
|
rs1057516816
|
|
NM_000153.4(GALC):c.1338+1G>C
|
rs1555379669
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs)
|
rs1555384335
|
|
NM_000153.4(GALC):c.1426dup (p.Ser476fs)
|
rs1057517082
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)
|
rs1555379155
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.155del (p.Gly52fs)
|
rs1064793131
|
|
NM_000153.4(GALC):c.1670+1G>A
|
rs749597090
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer)
|
rs751283440
|
|
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)
|
rs1360345372
|
|
NM_000153.4(GALC):c.1835-1G>A
|
rs1555378562
|
|
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)
|
rs1057517033
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.190_195+9del
|
rs1057517187
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.1912-1G>C
|
rs1555377947
|
|
NM_000153.4(GALC):c.195+1G>C
|
rs1009872980
|
|
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)
|
rs762034337
|
|
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
|
rs1060499761
|
|
NM_000153.4(GALC):c.1A>G (p.Met1Val)
|
rs1555384382
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)
|
rs959445153
|
|
NM_000153.4(GALC):c.2T>C (p.Met1Thr)
|
rs780972896
|
|
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)
|
rs1240965365
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.415A>T (p.Lys139Ter)
|
rs1057516673
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.442+2T>G
|
rs1057516632
|
|
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)
|
rs1057517185
|
|
NM_000153.4(GALC):c.49_50del (p.Met17fs)
|
rs1555384360
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)
|
rs1555383500
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.583A>G (p.Ile195Val)
|
rs1555383309
|
|
NM_000153.4(GALC):c.591dup (p.Glu198Ter)
|
rs1555383308
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.621+5G>A
|
rs1555383306
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer)
|
rs1555381958
|
|
NM_000153.4(GALC):c.832A>G (p.Thr278Ala)
|
rs886042645
|
|
NM_000153.4(GALC):c.884A>C (p.Asn295Thr)
|
rs746922378
|
|
NM_000153.4(GALC):c.908+1G>T
|
rs750524447
|
|
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
|
rs776368825
|
|
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
|
rs1057516642
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)
|
rs1057516808
|
|
NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
|
|
NM_000154.2(GALK1):c.-33_-20dup
|
rs1555748974
|
|
NM_000154.2(GALK1):c.1012dup (p.Val338fs)
|
rs1555747776
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
|
rs1311294794
|
|
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg)
|
rs1555748630
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu)
|
rs575077063
|
|
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del)
|
rs1555748595
|
|
NM_000154.2(GALK1):c.612-1G>A
|
rs1555748556
|
|
NM_000154.2(GALK1):c.689_711dup (p.Val238fs)
|
rs1555748534
|
|
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)
|
rs1555748940
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
|
NM_000155.3(GALT):c.-130_-129insCAGT
|
rs111033640
|
|
NM_000155.3(GALT):c.-96T>G
|
rs1554709099
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.1059+1G>T
|
rs1554709516
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
NM_000155.4(GALT):c.132del (p.Ser45fs)
|
rs1554709139
|
|
NM_000155.4(GALT):c.14_23dup (p.Gln9fs)
|
rs1554709110
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
NM_000155.4(GALT):c.157T>C (p.Trp53Arg)
|
rs1131691837
|
|
NM_000155.4(GALT):c.164del (p.Gly55fs)
|
rs1554709146
|
|
NM_000155.4(GALT):c.180del (p.Gln60fs)
|
rs1554709148
|
|
NM_000155.4(GALT):c.189dup (p.Thr64fs)
|
rs1554709151
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)
|
rs111033664
|
|
NM_000155.4(GALT):c.247G>A (p.Gly83Arg)
|
rs111033660
|
|
NM_000155.4(GALT):c.25C>T (p.Gln9Ter)
|
rs111033848
|
|
NM_000155.4(GALT):c.27G>C (p.Gln9His)
|
rs111033637
|
|
NM_000155.4(GALT):c.336T>G (p.Ser112Arg)
|
rs367543254
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
NM_000155.4(GALT):c.378-2A>T
|
rs1554709280
|
|
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)
|
rs367543255
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
NM_000155.4(GALT):c.502G>A (p.Val168Met)
|
rs367543258
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
NM_000155.4(GALT):c.513dup (p.Glu172Ter)
|
rs886044409
|
|
NM_000155.4(GALT):c.527C>T (p.Ala176Val)
|
rs1554709329
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
NM_000155.4(GALT):c.561_564+9del
|
rs1554709342
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.564+1G>T
|
rs111033723
|
|
NM_000155.4(GALT):c.565-2A>G
|
rs111033731
|
|
NM_000155.4(GALT):c.572C>A (p.Ala191Asp)
|
rs794727838
|
|
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)
|
rs1554709366
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.652C>G (p.Leu218Val)
|
rs2070075
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.670del (p.Gln224fs)
|
rs1057516883
|
|
NM_000155.4(GALT):c.676C>G (p.Leu226Val)
|
rs111033751
|
|
NM_000155.4(GALT):c.687G>A (p.Lys229=)
|
rs111033753
|
|
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)
|
rs111033758
|
|
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)
|
rs111033755
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.83-2A>G
|
rs1057517415
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)
|
rs111033791
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.970C>T (p.Pro324Ser)
|
rs111033798
|
|
NM_000155.4(GALT):c.979_986del (p.Leu327fs)
|
rs1554709502
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
|
rs77369218
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
NM_000159.4(GCDH):c.*182AGA[1]
|
rs1555752085
|
|
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)
|
rs1555751089
|
|
NM_000159.4(GCDH):c.1082+1G>T
|
rs1555751109
|
|
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)
|
rs1555751240
|
|
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)
|
rs778153326
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)
|
rs1555751379
|
|
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)
|
rs776082304
|
|
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)
|
rs776082304
|
|
NM_000159.4(GCDH):c.1244-2A>G
|
rs199999619
|
|
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)
|
rs1555751995
|
|
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)
|
rs1006150317
|
|
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)
|
rs1555749239
|
|
NM_000159.4(GCDH):c.1A>C (p.Met1Leu)
|
rs1197426645
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro)
|
rs748185335
|
|
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
|
rs142967670
|
|
NM_000159.4(GCDH):c.271+1G>A
|
rs786204639
|
|
NM_000159.4(GCDH):c.272-2A>C
|
rs1555749369
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)
|
rs1273164833
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)
|
rs758137643
|
|
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)
|
rs1555749853
|
|
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)
|
rs768836114
|
|
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del)
|
rs1555749893
|
|
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly)
|
rs372429120
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
NM_000159.4(GCDH):c.3G>A (p.Met1Ile)
|
rs1230368107
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
NM_000159.4(GCDH):c.427G>A (p.Val143Ile)
|
rs1555749918
|
|
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
|
rs1555749927
|
|
NM_000159.4(GCDH):c.505+1_505+8del
|
rs1057516855
|
|
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)
|
rs1057516715
|
|
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)
|
rs786204627
|
|
NM_000159.4(GCDH):c.636-2dup
|
rs762345287
|
|
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)
|
rs1468636851
|
|
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs)
|
rs1555750542
|
|
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer)
|
rs1057516899
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs)
|
rs1555750580
|
|
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser)
|
rs1555750589
|
|
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del)
|
rs768065370
|
|
NM_000159.4(GCDH):c.798G>A (p.Met266Ile)
|
rs1555750632
|
|
NM_000159.4(GCDH):c.79del (p.Ala27fs)
|
rs1057516939
|
|
NM_000159.4(GCDH):c.80_81del (p.Ala27fs)
|
rs1057516522
|
|
NM_000159.4(GCDH):c.853-2A>G
|
rs1057517410
|
|
NM_000159.4(GCDH):c.873del (p.Asn291fs)
|
rs1057517407
|
|
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
|
rs794726972
|
|
NM_000169.3(GLA):c.244A>T (p.Lys82Ter)
|
rs1057516429
|
|
NM_000169.3(GLA):c.999+2T>C
|
rs886044860
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)
|
rs1226098656
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del)
|
rs1554652793
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del)
|
rs1554652791
|
|
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)
|
rs1554646653
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser)
|
rs1554646517
|
|
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)
|
rs1554652789
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs)
|
rs1196401015
|
|
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)
|
rs1554643929
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2458-1G>T
|
rs1554643370
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.2458A>G (p.Met820Val)
|
rs781682244
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)
|
rs1163356968
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs)
|
rs1554641737
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg)
|
rs1057515605
|
|
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter)
|
rs1554641519
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter)
|
rs1444245039
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg)
|
rs1554648113
|
|
NM_000170.3(GLDC):c.851A>C (p.His284Pro)
|
rs1210767970
|
|
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe)
|
rs200413149
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del)
|
rs1553408197
|
|
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)
|
rs567785169
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)
|
rs786201760
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys)
|
rs876659674
|
|
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)
|
rs993163672
|
|
NM_000179.3(MSH6):c.1560T>C (p.Gly520=)
|
rs762396230
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1763A>G (p.His588Arg)
|
rs786202725
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)
|
rs587779919
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg)
|
rs786201676
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)
|
rs587779920
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
NM_000179.3(MSH6):c.2187C>T (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2194C>A (p.Arg732=)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)
|
rs556339046
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg)
|
rs863224624
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)
|
rs1553408448
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.260+15del
|
rs1553408495
|
|
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer)
|
rs63751408
|
|
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)
|
rs1553414029
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
NM_000179.3(MSH6):c.3173-18T>C
|
rs189672273
|
|
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr)
|
rs730881803
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala)
|
rs756108143
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=)
|
rs370226185
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)
|
rs876659549
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3556+32_3556+35del
|
rs780754745
|
|
NM_000179.3(MSH6):c.3556+36_3556+39del
|
rs55684722
|
|
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)
|
rs869312799
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
NM_000179.3(MSH6):c.3647-11dup
|
rs774223571
|
|
NM_000179.3(MSH6):c.3647-6T>C
|
rs182871847
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)
|
rs1553333093
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=)
|
rs786202051
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val)
|
rs587779293
|
|
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg)
|
rs201191389
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)
|
rs1553333370
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)
|
rs2229018
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup)
|
rs1553333670
|
|
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.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.4001+27TAAC[3]
|
rs267608136
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)
|
rs863224628
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser)
|
rs587781817
|
|
NM_000179.3(MSH6):c.55del (p.Asp19fs)
|
rs1553408127
|
|
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)
|
rs587781777
|
|
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)
|
rs587779947
|
|
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)
|
rs142949377
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000182.5(HADHA):c.1052del (p.Lys351fs)
|
rs1057516556
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1202del (p.Gln401fs)
|
rs1057517087
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
NM_000182.5(HADHA):c.1221-1G>C
|
rs1057516233
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer)
|
rs1057516734
|
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)
|
rs1553312033
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)
|
rs1553311804
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.1A>G (p.Met1Val)
|
rs1057517430
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
NM_000182.5(HADHA):c.2026del (p.Arg676fs)
|
rs1553311716
|
|
NM_000182.5(HADHA):c.2059del (p.Met687fs)
|
rs1553311706
|
|
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)
|
rs1057517132
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.2146+2T>C
|
rs1057516350
|
|
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)
|
rs142120825
|
|
NM_000182.5(HADHA):c.2222del (p.Gly741fs)
|
rs1553311647
|
|
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)
|
rs1553311646
|
|
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs)
|
rs1553311645
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)
|
rs1057516326
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.3G>A (p.Met1Ile)
|
rs1237270916
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
NM_000182.5(HADHA):c.515del (p.Pro172fs)
|
rs1057517282
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)
|
rs1300516636
|
|
NM_000182.5(HADHA):c.677-1G>A
|
rs1553314070
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.800-1G>T
|
rs1553314024
|
|
NM_000182.5(HADHA):c.800-1_801del
|
rs1553314023
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)
|
rs1057517081
|
|
NM_000187.4(HGD):c.1064dup (p.Gly356fs)
|
rs1057516847
|
|
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)
|
rs765219004
|
|
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)
|
rs765912447
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
NM_000187.4(HGD):c.15+1G>A
|
rs552207335
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.177-1G>A
|
rs1057517370
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)
|
rs1057516362
|
|
NM_000187.4(HGD):c.339_342+2del
|
rs1057516662
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.346del (p.Leu116fs)
|
rs1057516911
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.376_377del (p.Lys126fs)
|
rs1057516976
|
|
NM_000187.4(HGD):c.390del (p.Ala132fs)
|
rs1057516352
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.409del (p.Leu137fs)
|
rs1057516921
|
|
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)
|
rs1553717936
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)
|
rs756255206
|
|
NM_000187.4(HGD):c.58del (p.Arg20fs)
|
rs1057516849
|
|
NM_000187.4(HGD):c.649+2T>C
|
rs1057516307
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.781dup (p.Ser261fs)
|
rs1057517418
|
|
NM_000187.4(HGD):c.879+1G>A
|
rs1553716979
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000187.4(HGD):c.956del (p.Pro319fs)
|
rs1057517089
|
|
NM_000187.4(HGD):c.970dup (p.Val324fs)
|
rs34214309
|
|
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)
|
rs1553133042
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.413del (p.Asn138fs)
|
rs1553132520
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
NM_000191.3(HMGCL):c.60+1G>T
|
rs1324641233
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)
|
rs1553131921
|
|
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)
|
rs765198174
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)
|
rs1553131326
|
|
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)
|
rs1553131320
|
|
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)
|
rs1303767209
|
|
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla)
|
rs1555624208
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del)
|
rs1555620306
|
|
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)
|
rs1428699412
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser)
|
rs1555623007
|
|
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)
|
rs1412408576
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)
|
rs1555620148
|
|
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)
|
rs1555620141
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1416G>C (p.Gln472His)
|
rs1555620072
|
|
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)
|
rs1555620043
|
|
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)
|
rs1252944094
|
|
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter)
|
rs1232231848
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)
|
rs1555622928
|
|
NM_000199.5(SGSH):c.216del (p.Ser73fs)
|
rs1555622888
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer)
|
rs1555624111
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del)
|
rs1555621974
|
|
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)
|
rs749358773
|
|
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)
|
rs1555624091
|
|
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)
|
rs1555624080
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.664-1G>T
|
rs1555621425
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.726C>T (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
NM_000199.5(SGSH):c.937_939dup (p.Val313dup)
|
rs1555620723
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1083G>A (p.Ala361=)
|
rs1553917295
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)
|
rs1553917310
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1189+5G>A
|
rs1553917318
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)
|
rs1450080299
|
|
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)
|
rs1445719596
|
|
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)
|
rs1553917418
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
NM_000203.5(IDUA):c.1402+2T>G
|
rs1553917428
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1524+1G>T
|
rs1553917483
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.1591del (p.Arg531fs)
|
rs1553917558
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1650+1G>A
|
rs1434521185
|
|
NM_000203.5(IDUA):c.1650+2C>G
|
rs1553917580
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)
|
rs1553917735
|
|
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)
|
rs1553917737
|
|
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
|
rs746936485
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1867del (p.Leu623fs)
|
rs1553917747
|
|
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)
|
rs1553917746
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)
|
rs1553917764
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.300-1G>A
|
rs1553916890
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)
|
rs558683362
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)
|
rs1553916949
|
|
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)
|
rs1553916950
|
|
NM_000203.5(IDUA):c.493+1G>A
|
rs1553916957
|
|
NM_000203.5(IDUA):c.494-1G>A
|
rs794727701
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)
|
rs770087890
|
|
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)
|
rs1553917091
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)
|
rs1553917216
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)
|
rs1553917253
|
|
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)
|
rs869320659
|
|
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)
|
rs759412123
|
|
NM_000213.5(ITGB4):c.5218+2T>C
|
rs780675808
|
|
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs)
|
rs1555746537
|
|
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter)
|
rs1443010160
|
|
NM_000227.6(LAMA3):c.2T>C (p.Met1Thr)
|
rs1555720521
|
|
NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter)
|
rs900100444
|
|
NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter)
|
rs1057516512
|
|
NM_000228.2(LAMB3):c.2138_2140delGAG
|
rs1553276448
|
|
NM_000228.3(LAMB3):c.1007del (p.Gln336fs)
|
rs1057517395
|
|
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter)
|
rs1057516316
|
|
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs)
|
rs1057517290
|
|
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer)
|
rs1553277686
|
|
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
|
rs1057517096
|
|
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn)
|
rs267598351
|
|
NM_000228.3(LAMB3):c.1283_1288+14del
|
rs1553277432
|
|
NM_000228.3(LAMB3):c.1288+1G>A
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup)
|
rs1553277238
|
|
NM_000228.3(LAMB3):c.1486-1G>A
|
rs1418276828
|
|
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs)
|
rs769151482
|
|
NM_000228.3(LAMB3):c.183+2T>C
|
rs1553281291
|
|
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter)
|
rs121912484
|
|
NM_000228.3(LAMB3):c.2011del (p.Leu671fs)
|
rs1057516822
|
|
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del)
|
rs1553276516
|
|
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer)
|
rs1553276488
|
|
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter)
|
rs1057517207
|
|
NM_000228.3(LAMB3):c.2182del (p.Ala728fs)
|
rs1553276430
|
|
NM_000228.3(LAMB3):c.225_226del (p.His75fs)
|
rs886045870
|
|
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup)
|
rs752460751
|
|
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup)
|
rs752460751
|
|
NM_000228.3(LAMB3):c.2288del (p.Gly763fs)
|
rs886041893
|
|
NM_000228.3(LAMB3):c.2346del (p.Thr783fs)
|
rs1057516486
|
|
NM_000228.3(LAMB3):c.2358+2T>C
|
rs1057516838
|
|
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs)
|
rs1375506940
|
|
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs)
|
rs1553276268
|
|
NM_000228.3(LAMB3):c.2516del (p.Leu839fs)
|
rs1553276216
|
|
NM_000228.3(LAMB3):c.2556+1G>A
|
rs1178041263
|
|
NM_000228.3(LAMB3):c.2701+1G>A
|
rs1553276110
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del)
|
rs745574977
|
|
NM_000228.3(LAMB3):c.29-2A>G
|
rs371267954
|
|
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)
|
rs2229467
|
|
NM_000228.3(LAMB3):c.298+2T>C
|
rs1057517312
|
|
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser)
|
rs886045862
|
|
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs)
|
rs777292177
|
|
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)
|
rs1057516756
|
|
NM_000228.3(LAMB3):c.3052-1G>A
|
rs774472247
|
|
NM_000228.3(LAMB3):c.308del (p.Pro103fs)
|
rs1553279073
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs)
|
rs1553275219
|
|
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)
|
rs1057516400
|
|
NM_000228.3(LAMB3):c.372+1G>C
|
rs1553279044
|
|
NM_000228.3(LAMB3):c.372+2T>G
|
rs1057516675
|
|
NM_000228.3(LAMB3):c.373-2A>G
|
rs1057517258
|
|
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs)
|
rs1057516241
|
|
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter)
|
rs1057516399
|
|
NM_000228.3(LAMB3):c.561del (p.Lys188fs)
|
rs1057516947
|
|
NM_000228.3(LAMB3):c.565-1G>T
|
rs1057516693
|
|
NM_000228.3(LAMB3):c.565-2A>C
|
rs370148688
|
|
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)
|
rs121912486
|
|
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs)
|
rs1057516884
|
|
NM_000228.3(LAMB3):c.822+2dup
|
rs1553278151
|
|
NM_000228.3(LAMB3):c.823-1G>T
|
rs778372285
|
|
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter)
|
rs1057516809
|
|
NM_000228.3(LAMB3):c.920del (p.Gly307fs)
|
rs1057516249
|
|
NM_000228.3(LAMB3):c.943+2T>A
|
rs1464038626
|
|
NM_000231.2(SGCG):c.[800G>C;801T>C]
|
|
|
NM_000231.3(SGCG):c.133del (p.Ile45fs)
|
rs1555234799
|
|
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)
|
rs1555234810
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.298-2A>C
|
rs1555240119
|
|
NM_000231.3(SGCG):c.385+2T>A
|
rs200206447
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.578+1G>C
|
rs1555245353
|
|
NM_000231.3(SGCG):c.591dup (p.Thr198fs)
|
rs1555247973
|
|
NM_000231.3(SGCG):c.702+1G>A
|
rs1555248000
|
|
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del)
|
rs1555248287
|
|
NM_000231.3(SGCG):c.721del (p.Thr241fs)
|
rs1555248289
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000232.5(SGCB):c.-15_8del (p.Met1fs)
|
rs1057517205
|
|
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr)
|
rs1553940680
|
|
NM_000232.5(SGCB):c.216_219del (p.Phe73fs)
|
rs1057516360
|
|
NM_000232.5(SGCB):c.243+1G>T
|
rs1553940663
|
|
NM_000232.5(SGCB):c.243+2T>G
|
rs1553940661
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
NM_000232.5(SGCB):c.33+1G>A
|
rs1553940957
|
|
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter)
|
rs1553940262
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)
|
rs1057516515
|
|
NM_000232.5(SGCB):c.857del (p.Lys286fs)
|
rs1553939681
|
|
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)
|
rs1410190129
|
|
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)
|
rs781364428
|
|
NM_000235.4(LIPA):c.111+2T>G
|
rs1554869292
|
|
NM_000235.4(LIPA):c.1A>G (p.Met1Val)
|
rs767039444
|
|
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)
|
rs1554866097
|
|
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)
|
rs766364179
|
|
NM_000235.4(LIPA):c.428+1G>A
|
rs1554866004
|
|
NM_000235.4(LIPA):c.482del (p.Asn161fs)
|
rs762559980
|
|
NM_000235.4(LIPA):c.594dup (p.Ala199fs)
|
rs780495201
|
|
NM_000235.4(LIPA):c.676-2A>G
|
rs747508159
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
NM_000235.4(LIPA):c.684del (p.Phe228fs)
|
rs770074196
|
|
NM_000235.4(LIPA):c.883C>T (p.His295Tyr)
|
rs1554865214
|
|
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)
|
rs1554865206
|
|
NM_000235.4(LIPA):c.894+2T>C
|
rs1554865199
|
|
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter)
|
rs1554864404
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys)
|
rs763847201
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1039-4A>G
|
rs368618417
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1210C>T (p.Leu404=)
|
rs1057517538
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1409+1_1409+6del
|
rs1057517617
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser)
|
rs587780679
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.18G>A (p.Gly6=)
|
rs786202312
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)
|
rs267607886
|
|
NM_000249.4(MLH1):c.2088C>G (p.Thr696=)
|
rs1060504015
|
|
NM_000249.4(MLH1):c.2104-22T>C
|
rs267607890
|
|
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.307-10T>C
|
rs572853043
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)
|
rs779562531
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.589-24T>C
|
rs1057517607
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+7C>T
|
rs556224377
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.705T>C (p.Asp235=)
|
rs876658869
|
|
NM_000249.4(MLH1):c.779T>A (p.Leu260His)
|
rs63751283
|
|
NM_000249.4(MLH1):c.790+17dup
|
rs757064565
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)
|
rs138705565
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
NM_000251.2(MSH2):c.-81dup
|
rs587779187
|
|
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser)
|
rs63751062
|
|
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1076+23C>G
|
rs377417056
|
|
NM_000251.3(MSH2):c.108T>C (p.Leu36=)
|
rs876659034
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1271A>G (p.His424Arg)
|
rs200429136
|
|
NM_000251.3(MSH2):c.1276+10G>A
|
rs374061707
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile)
|
rs1553361185
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
|
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)
|
rs876658582
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)
|
rs587778523
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.1661+17T>G
|
rs377461923
|
|
NM_000251.3(MSH2):c.1661+25del
|
rs1553366691
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.1759+16C>G
|
rs1057517573
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala)
|
rs376044376
|
|
NM_000251.3(MSH2):c.1828C>A (p.His610Asn)
|
rs267607980
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.1884A>T (p.Gly628=)
|
rs786202663
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)
|
rs63750368
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2458+12T>C
|
rs1553369841
|
|
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)
|
rs794729229
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)
|
rs587779155
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.366+25C>T
|
rs764158568
|
|
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg)
|
rs767371843
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
NM_000251.3(MSH2):c.606C>T (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
NM_000251.3(MSH2):c.6G>T (p.Ala2=)
|
rs368270856
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)
|
rs770466993
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1156C>A (p.His386Asn)
|
rs1554159937
|
|
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)
|
rs576536579
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)
|
rs1238333040
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)
|
rs1554158951
|
|
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)
|
rs1554158775
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)
|
rs1554158377
|
|
NM_000255.4(MMUT):c.1990del (p.Ala664fs)
|
rs1554158372
|
|
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)
|
rs1554158325
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)
|
rs1554160986
|
|
NM_000255.4(MMUT):c.29dup (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)
|
rs121918253
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.41A>T (p.His14Leu)
|
rs886061561
|
|
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)
|
rs1554160730
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)
|
rs1554160637
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
|
rs780283588
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522
|
|
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)
|
rs1555067608
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)
|
rs1555070062
|
|
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal)
|
rs782367511
|
|
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del)
|
rs1180304045
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=)
|
rs1349274983
|
|
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)
|
rs1555061692
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser)
|
rs763469001
|
|
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)
|
rs1437625274
|
|
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser)
|
rs111534474
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del)
|
rs1432069074
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603
|
|
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008
|
|
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
|
rs1555109788
|
|
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
|
rs1555109806
|
|
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
|
rs1555110680
|
|
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
|
rs1555111077
|
|
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
|
rs1003695470
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
|
rs1555111501
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.736-3C>T
|
rs1555063792
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1112del (p.Gly371fs)
|
rs1555622250
|
|
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)
|
rs1555622266
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)
|
rs1555622346
|
|
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)
|
rs1555621402
|
|
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)
|
rs1555622351
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)
|
rs1555622354
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)
|
rs1396150639
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
|
rs1555622441
|
|
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)
|
rs1555622443
|
|
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)
|
rs1555622482
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)
|
rs1555622505
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)
|
rs1555622533
|
|
NM_000263.4(NAGLU):c.193del (p.Tyr65fs)
|
rs1555621432
|
|
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)
|
rs1555622545
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)
|
rs1555622559
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup)
|
rs1555621450
|
|
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)
|
rs1555621405
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)
|
rs1555621469
|
|
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)
|
rs886043785
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)
|
rs1238423614
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)
|
rs1555621605
|
|
NM_000263.4(NAGLU):c.531+46_531+75del
|
rs1555621618
|
|
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)
|
rs1555621396
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)
|
rs1555622000
|
|
NM_000263.4(NAGLU):c.809del (p.His270fs)
|
rs1555622002
|
|
NM_000263.4(NAGLU):c.82del (p.Glu28fs)
|
rs1430122594
|
|
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)
|
rs756865833
|
|
NM_000263.4(NAGLU):c.867del (p.Ile290fs)
|
rs1555622019
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro)
|
rs1555637157
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg)
|
rs774333145
|
|
NM_000271.5(NPC1):c.1327-1G>A
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-1G>C
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)
|
rs1190383931
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1686G>A (p.Val562=)
|
rs1555635272
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.1761del (p.Phe587fs)
|
rs1057517197
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)
|
rs1555634739
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.1947+1G>A
|
rs1555634690
|
|
NM_000271.5(NPC1):c.1947+2T>A
|
rs764472245
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000271.5(NPC1):c.1948-2A>T
|
rs1555634513
|
|
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser)
|
rs1555634490
|
|
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)
|
rs1555641909
|
|
NM_000271.5(NPC1):c.1A>G (p.Met1Val)
|
rs1057517005
|
|
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val)
|
rs1555634452
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2131-2_2131del
|
rs1555634236
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys)
|
rs1555634202
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu)
|
rs1555633722
|
|
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)
|
rs1555633637
|
|
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)
|
rs1181604094
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2712del (p.Gln905fs)
|
rs1555633309
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)
|
rs786204641
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.27CCT[2] (p.Leu15del)
|
rs1555645598
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs)
|
rs761910746
|
|
NM_000271.5(NPC1):c.2911+1del
|
rs1555633118
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg)
|
rs1555632958
|
|
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys)
|
rs1555632941
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
NM_000271.5(NPC1):c.3042-2del
|
rs797044431
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)
|
rs374526072
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs)
|
rs1057516647
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys)
|
rs34715591
|
|
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)
|
rs1555632182
|
|
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)
|
rs28942105
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs)
|
rs1555631957
|
|
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup)
|
rs1555631911
|
|
NM_000271.5(NPC1):c.3562del (p.Glu1188fs)
|
rs758231839
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3592-1G>C
|
rs1555631653
|
|
NM_000271.5(NPC1):c.3592-7_3592-3del
|
rs760935117
|
|
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs)
|
rs1555631642
|
|
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs)
|
rs1555631610
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.3754+1G>A
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>C
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>T
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs)
|
rs1555631176
|
|
NM_000271.5(NPC1):c.3772del (p.Ala1258fs)
|
rs1555631174
|
|
NM_000271.5(NPC1):c.3778del (p.Ser1260fs)
|
rs1555631169
|
|
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del)
|
rs1482228628
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.397del (p.Val133fs)
|
rs1057517186
|
|
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)
|
rs1555645630
|
|
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs)
|
rs1555641027
|
|
NM_000271.5(NPC1):c.425_428del (p.Lys142fs)
|
rs770580241
|
|
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)
|
rs1057516749
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)
|
rs752409181
|
|
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr)
|
rs1555638882
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000271.5(NPC1):c.58-2A>T
|
rs1555642347
|
|
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer)
|
rs1057516260
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup)
|
rs1555637509
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.199+11_199+16dup
|
rs201396618
|
|
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)
|
rs121965056
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1031G>T (p.Gly344Val)
|
rs62508582
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
NM_000277.3(PAH):c.1066-31G>A
|
rs199475685
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)
|
rs62508595
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1180del (p.Asp394fs)
|
rs1555203666
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+2T>G
|
rs62508737
|
|
NM_000277.3(PAH):c.1199+70G>A
|
rs281865457
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1209del (p.Ala404fs)
|
rs1555203401
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser)
|
rs62644475
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)
|
rs1555203363
|
|
NM_000277.3(PAH):c.1298dup (p.Leu433fs)
|
rs1057516377
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
NM_000277.3(PAH):c.1315+1G>T
|
rs5030861
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.307G>A (p.Gly103Ser)
|
rs752792040
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del)
|
rs1555207969
|
|
NM_000277.3(PAH):c.352+2dup
|
rs1057516604
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
|
rs199475681
|
|
NM_000277.3(PAH):c.379G>A (p.Glu127Lys)
|
rs1555206565
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.443G>T (p.Gly148Val)
|
rs1555205655
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)
|
rs281865440
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)
|
rs199475604
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr)
|
rs865899394
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.60+1G>C
|
rs1555209932
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)
|
rs201245932
|
|
NM_000277.3(PAH):c.689T>C (p.Val230Ala)
|
rs199475673
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.757G>A (p.Asp253Asn)
|
rs765533320
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.790del (p.His264fs)
|
rs1057517009
|
|
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)
|
rs778154939
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
NM_000277.3(PAH):c.826A>G (p.Met276Val)
|
rs62516149
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.870T>G (p.His290Gln)
|
rs751203209
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969A>G (p.Thr323=)
|
rs199475637
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)
|
rs62508573
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1102G>C (p.Asp368His)
|
rs1555411121
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)
|
rs11539554
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040+1G>T
|
rs1555327732
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000286.3(PEX12):c.-26G>A
|
rs727504080
|
|
NM_000286.3(PEX12):c.1023del (p.Thr342fs)
|
rs1555549723
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)
|
rs1555549722
|
|
NM_000286.3(PEX12):c.126+2T>A
|
rs1555549902
|
|
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)
|
rs1555549917
|
|
NM_000286.3(PEX12):c.190_194del (p.Thr64fs)
|
rs1214971073
|
|
NM_000286.3(PEX12):c.1_2del (p.Met1fs)
|
rs1555549923
|
|
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
|
rs61752098
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)
|
rs1458853023
|
|
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
|
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)
|
rs1555549841
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.687_690del (p.Ser229fs)
|
rs1555549769
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)
|
rs1366848752
|
|
NM_000286.3(PEX12):c.88_89del (p.Met30fs)
|
rs1555549909
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)
|
rs61752112
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)
|
rs941358133
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1046+1G>A
|
rs1554127968
|
|
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)
|
rs1554127531
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)
|
rs1356280167
|
|
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup)
|
rs1421584986
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)
|
rs1554127389
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del)
|
rs1162020526
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2439dup (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)
|
rs1554128546
|
|
NM_000287.4(PEX6):c.2692del (p.Leu898fs)
|
rs1554126798
|
|
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)
|
rs61752142
|
|
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs)
|
rs1554126781
|
|
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)
|
rs61752139
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)
|
rs1554128488
|
|
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)
|
rs1554128586
|
|
NM_000287.4(PEX6):c.462del (p.Leu155fs)
|
rs1554128476
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del)
|
rs1554128449
|
|
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del)
|
rs1554128446
|
|
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)
|
rs886037779
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-46_-38dup
|
rs1554328233
|
|
NM_000288.4(PEX7):c.122G>T (p.Gly41Val)
|
rs61753239
|
|
NM_000288.4(PEX7):c.130+1G>C
|
rs267608253
|
|
NM_000288.4(PEX7):c.130+32_130+51del
|
rs1554328334
|
|
NM_000288.4(PEX7):c.131-2A>G
|
rs1554328790
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.189-2A>G
|
rs1554328952
|
|
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys)
|
rs1554328961
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.31_56del (p.Met11fs)
|
rs1057516961
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.339+2T>C
|
rs1057517059
|
|
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)
|
rs769137963
|
|
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)
|
rs1554328282
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)
|
rs62653607
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.527-2A>G
|
rs1057517339
|
|
NM_000288.4(PEX7):c.545dup (p.Trp183fs)
|
rs1057516574
|
|
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.774_784del (p.Ala259fs)
|
rs1057516824
|
|
NM_000288.4(PEX7):c.806dup (p.Trp270fs)
|
rs1464766327
|
|
NM_000288.4(PEX7):c.817del (p.Ser273fs)
|
rs1554335926
|
|
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)
|
rs1554335937
|
|
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter)
|
rs374763007
|
|
NM_000288.4(PEX7):c.904-1G>A
|
rs1413838301
|
|
NM_000288.4(PEX7):c.917del (p.Ser306fs)
|
rs1554337182
|
|
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)
|
rs1554337188
|
|
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly)
|
rs988988279
|
|
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser)
|
rs374574552
|
|
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)
|
rs1057516929
|
|
NM_000295.5(SERPINA1):c.1066-1G>T
|
rs1555367897
|
|
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)
|
rs763023697
|
|
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)
|
rs764325655
|
|
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)
|
rs762321137
|
|
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val)
|
rs1057516555
|
|
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)
|
rs370038282
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)
|
rs864622051
|
|
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)
|
rs199422210
|
|
NM_000295.5(SERPINA1):c.714del (p.Thr239fs)
|
rs1057516448
|
|
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile)
|
rs864622044
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.178+2T>G
|
rs1555448922
|
|
NM_000303.3(PMM2):c.179-15del
|
rs145496357
|
|
NM_000303.3(PMM2):c.179-1G>T
|
rs1166138838
|
|
NM_000303.3(PMM2):c.189del (p.Lys63fs)
|
rs1057516815
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)
|
rs1057516943
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)
|
rs1555449316
|
|
NM_000303.3(PMM2):c.345dup (p.Arg116fs)
|
rs1057516757
|
|
NM_000303.3(PMM2):c.347+1G>A
|
rs1057517117
|
|
NM_000303.3(PMM2):c.348-1G>C
|
rs1555449604
|
|
NM_000303.3(PMM2):c.348-2A>C
|
rs1555449603
|
|
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)
|
rs1057517110
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu)
|
rs1555449617
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.454_455del (p.Asn152fs)
|
rs771240150
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.524-2A>G
|
rs1555449780
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly)
|
rs1386173214
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.640-25_640-22dup
|
rs1555453228
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)
|
rs752614554
|
|
NM_000303.3(PMM2):c.653dup (p.His218fs)
|
rs1555453241
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.67-2A>T
|
rs1555448897
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.737_739del (p.Ser246del)
|
rs764817746
|
|
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
|
rs1555453271
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_000310.4(PPT1):c.*521_*532dup
|
rs1553166026
|
|
NM_000310.4(PPT1):c.*529_*530insAGCA
|
rs1553166029
|
|
NM_000310.4(PPT1):c.*529_*530insGTCA
|
rs1553166030
|
|
NM_000310.4(PPT1):c.114del (p.Trp38fs)
|
rs386833625
|
|
NM_000310.4(PPT1):c.124+2T>A
|
rs1057517368
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175_177del (p.Glu59del)
|
rs1553167495
|
|
NM_000310.4(PPT1):c.184del (p.Ile62fs)
|
rs1057517192
|
|
NM_000310.4(PPT1):c.18_21del (p.Leu7fs)
|
rs1553167863
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.281_282del (p.Thr94fs)
|
rs1553167479
|
|
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)
|
rs1057517049
|
|
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter)
|
rs1057516447
|
|
NM_000310.4(PPT1):c.338del (p.Gly113fs)
|
rs1553167474
|
|
NM_000310.4(PPT1):c.362+1G>A
|
rs1057517401
|
|
NM_000310.4(PPT1):c.363-2A>G
|
rs1553167430
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.433+1G>A
|
rs1553167415
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.48_54del (p.Trp17fs)
|
rs1057517112
|
|
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)
|
rs386833650
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.627+1G>T
|
rs1265044710
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.721del (p.Ser241fs)
|
rs1553166499
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000310.4(PPT1):c.799-2A>G
|
rs1553166147
|
|
NM_000310.4(PPT1):c.821dup (p.Met274fs)
|
rs1057516575
|
|
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)
|
rs1553166135
|
|
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter)
|
rs747204624
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
NM_000314.8(PTEN):c.-500GGC[6]
|
rs1237307954
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu)
|
rs1085308040
|
|
NM_000314.8(PTEN):c.1026+38dup
|
rs767896771
|
|
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)
|
rs375709098
|
|
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)
|
rs876661264
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.165-8_165-4del
|
rs760571273
|
|
NM_000314.8(PTEN):c.210-26A>T
|
rs776849737
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)
|
rs202004587
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
NM_000314.8(PTEN):c.493-12dup
|
rs756623620
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.79+23_79+25del
|
rs1221062997
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.118T>C (p.Phe40Leu)
|
rs1555198118
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.164-2A>G
|
rs1555198233
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.227_228del (p.Leu76fs)
|
rs1555198263
|
|
NM_000317.3(PTS):c.244-1G>T
|
rs1555198451
|
|
NM_000317.3(PTS):c.248C>A (p.Ala83Glu)
|
rs775426269
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.26G>A (p.Arg9His)
|
rs1213277062
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
NM_000317.3(PTS):c.314+1G>C
|
rs1555198462
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.326A>G (p.Asn109Ser)
|
rs1361000720
|
|
NM_000317.3(PTS):c.337del (p.Tyr113fs)
|
rs1555198494
|
|
NM_000317.3(PTS):c.340A>G (p.Ile114Val)
|
rs1555198495
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.402A>C (p.Glu134Asp)
|
rs746993982
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)
|
rs200065382
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)
|
rs1554584507
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.472del (p.Leu158fs)
|
rs1554584487
|
|
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)
|
rs1554584474
|
|
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)
|
rs1554584423
|
|
NM_000318.3(PEX2):c.834_838del (p.Phe278fs)
|
rs267608188
|
|
NM_000318.3(PEX2):c.857_859del (p.Glu286del)
|
rs1460738027
|
|
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)
|
rs1554584377
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.644-43del
|
rs61752894
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)
|
rs1057516744
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)
|
rs1057517433
|
|
NM_000337.5(SGCD):c.-139dup
|
rs1554093270
|
|
NM_000337.5(SGCD):c.-626_-616del
|
rs149976574
|
|
NM_000337.6(SGCD):c.-44+1G>C
|
rs959438136
|
|
NM_000337.6(SGCD):c.-44+1_-44+2dup
|
rs1554093294
|
|
NM_000337.6(SGCD):c.-44+2T>A
|
rs1300537737
|
|
NM_000337.6(SGCD):c.-44+2T>G
|
rs1300537737
|
|
NM_000337.6(SGCD):c.177C>T (p.Val59=)
|
rs727505265
|
|
NM_000337.6(SGCD):c.192+1G>A
|
rs1267810339
|
|
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)
|
rs786205286
|
|
NM_000337.6(SGCD):c.294+1G>A
|
rs727503422
|
|
NM_000337.6(SGCD):c.3+1G>A
|
rs777787493
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[2]
|
rs727504998
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
NM_000337.6(SGCD):c.383-33_383-13del
|
rs1554119747
|
|
NM_000337.6(SGCD):c.383-35_383-34insA
|
rs1554119750
|
|
NM_000337.6(SGCD):c.383-47CTCTCTC[4]
|
rs780744816
|
|
NM_000337.6(SGCD):c.618del (p.Gly207fs)
|
rs1554137109
|
|
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)
|
rs1175344271
|
|
NM_000337.6(SGCD):c.699+1G>T
|
rs1554137130
|
|
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)
|
rs397517923
|
|
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter)
|
rs1224803345
|
|
NM_000337.6(SGCD):c.775_777del (p.Lys259del)
|
rs1207864818
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)
|
rs1554503018
|
|
NM_000349.3(STAR):c.178+1G>C
|
rs1554503011
|
|
NM_000349.3(STAR):c.179-2A>G
|
rs1554502986
|
|
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)
|
rs146872295
|
|
NM_000349.3(STAR):c.298_299del (p.Gln101fs)
|
rs765904696
|
|
NM_000349.3(STAR):c.466-11T>A
|
rs1053284504
|
|
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)
|
rs747169620
|
|
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)
|
rs369232492
|
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.629_630del (p.Pro210fs)
|
rs771895449
|
|
NM_000349.3(STAR):c.64+2T>C
|
rs1298369560
|
|
NM_000349.3(STAR):c.651-1G>C
|
rs749626865
|
|
NM_000349.3(STAR):c.677del (p.Val226fs)
|
rs1554502732
|
|
NM_000349.3(STAR):c.695del (p.Gly232fs)
|
rs757367795
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
NM_000349.3(STAR):c.716_732del (p.Leu239fs)
|
rs1554502725
|
|
NM_000349.3(STAR):c.745-1_757del
|
rs1554502668
|
|
NM_000349.3(STAR):c.801dup (p.Ala268fs)
|
rs1554502663
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del)
|
rs1554949238
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup)
|
rs1554949190
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
NM_000352.6(ABCC8):c.1468-2A>C
|
rs1057516946
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del)
|
rs1554933031
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
NM_000352.6(ABCC8):c.2041-25G>A
|
rs1554924660
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256-16del
|
rs774508952
|
|
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)
|
rs1554916621
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
NM_000352.6(ABCC8):c.2694+3G>A
|
rs1554914779
|
|
NM_000352.6(ABCC8):c.2694+4A>T
|
rs1554914771
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)
|
rs1225850029
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)
|
rs1271445653
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)
|
rs1554910736
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup)
|
rs1554906427
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu)
|
rs772094360
|
|
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)
|
rs1340859533
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg)
|
rs1554905805
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr)
|
rs1554905695
|
|
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp)
|
rs746811190
|
|
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)
|
rs1554905655
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.415del (p.Leu139fs)
|
rs1057516591
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)
|
rs1554904088
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)
|
rs142272833
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)
|
rs919281813
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)
|
rs1057517199
|
|
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del)
|
rs772409200
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg)
|
rs1554942704
|
|
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)
|
rs1057517139
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
NM_000352.6(ABCC8):c.823-7T>A
|
rs1554942148
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
NM_000353.3(TAT):c.1041+2T>C
|
rs113758103
|
|
NM_000353.3(TAT):c.1047del (p.Asn349fs)
|
rs1555537673
|
|
NM_000353.3(TAT):c.1125+1G>T
|
rs1555537662
|
|
NM_000353.3(TAT):c.1224G>A (p.Thr408=)
|
rs756743947
|
|
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln)
|
rs1018491678
|
|
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)
|
rs118203914
|
|
NM_000353.3(TAT):c.177dup (p.Val60fs)
|
rs1555538156
|
|
NM_000353.3(TAT):c.1A>G (p.Met1Val)
|
rs1426882225
|
|
NM_000353.3(TAT):c.226dup (p.Leu76fs)
|
rs746077579
|
|
NM_000353.3(TAT):c.340+2T>C
|
rs1555538138
|
|
NM_000353.3(TAT):c.568-2A>G
|
rs1555537871
|
|
NM_000353.3(TAT):c.707-1G>A
|
rs1555537814
|
|
NM_000353.3(TAT):c.906_912+12del
|
rs1555537741
|
|
NM_000359.3(TGM1):c.-2-1G>A
|
rs776068111
|
|
NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs)
|
rs1555306172
|
|
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)
|
rs779287673
|
|
NM_000359.3(TGM1):c.1159+1G>A
|
rs1220151696
|
|
NM_000359.3(TGM1):c.1159+1G>T
|
rs1220151696
|
|
NM_000359.3(TGM1):c.1160-2_1160-1del
|
rs1555306117
|
|
NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro)
|
rs1555306116
|
|
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)
|
rs121918723
|
|
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)
|
rs121918721
|
|
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)
|
rs121918721
|
|
NM_000359.3(TGM1):c.1226_1227del (p.Thr409fs)
|
rs1555306113
|
|
NM_000359.3(TGM1):c.1261A>G (p.Met421Val)
|
rs752670603
|
|
NM_000359.3(TGM1):c.1289A>T (p.Asp430Val)
|
rs1555306103
|
|
NM_000359.3(TGM1):c.1298+2T>C
|
rs1555306102
|
|
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter)
|
rs1555306089
|
|
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter)
|
rs886039654
|
|
NM_000359.3(TGM1):c.1570G>A (p.Gly524Ser)
|
rs765914927
|
|
NM_000359.3(TGM1):c.159C>A (p.Cys53Ter)
|
rs201432046
|
|
NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter)
|
rs1555305836
|
|
NM_000359.3(TGM1):c.1849_1850del (p.Val618fs)
|
rs1555305783
|
|
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)
|
rs1555305725
|
|
NM_000359.3(TGM1):c.2226-2A>G
|
rs752349623
|
|
NM_000359.3(TGM1):c.2381dup (p.Phe795fs)
|
rs949960795
|
|
NM_000359.3(TGM1):c.2417_2419del (p.Gly806del)
|
rs1439726634
|
|
NM_000359.3(TGM1):c.320-1G>T
|
rs1156392436
|
|
NM_000359.3(TGM1):c.566dup (p.Ser190fs)
|
rs1211601030
|
|
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)
|
rs1555306304
|
|
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)
|
rs972054392
|
|
NM_000359.3(TGM1):c.78GCCAGA[2] (p.26EP[2])
|
rs762513810
|
|
NM_000359.3(TGM1):c.78GCCAGA[5] (p.26EP[5])
|
rs762513810
|
|
NM_000359.3(TGM1):c.802del (p.Val268fs)
|
rs1322979131
|
|
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)
|
rs121918731
|
|
NM_000359.3(TGM1):c.944G>A (p.Arg315His)
|
rs143473912
|
|
NM_000359.3(TGM1):c.95_96insGCCTGA (p.26_27EP[4])
|
rs1555306576
|
|
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)
|
rs1554922725
|
|
NM_000360.4(TH):c.1104+1G>A
|
rs1057516819
|
|
NM_000360.4(TH):c.1129G>A (p.Gly377Arg)
|
rs745551241
|
|
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)
|
rs1554922593
|
|
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)
|
rs1554922441
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
NM_000360.4(TH):c.1282del (p.Gln428fs)
|
rs1554922434
|
|
NM_000360.4(TH):c.12_43del (p.Asp5fs)
|
rs1554924357
|
|
NM_000360.4(TH):c.12dup (p.Asp5fs)
|
rs1057516716
|
|
NM_000360.4(TH):c.1335-1G>A
|
rs1554922200
|
|
NM_000360.4(TH):c.1382C>G (p.Pro461Arg)
|
rs767635052
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.278_296dup (p.Val100fs)
|
rs1554923810
|
|
NM_000360.4(TH):c.312+1G>A
|
rs1554923802
|
|
NM_000360.4(TH):c.487+1G>A
|
rs1554923513
|
|
NM_000360.4(TH):c.487+1G>C
|
rs1554923513
|
|
NM_000360.4(TH):c.487+2T>C
|
rs1057517003
|
|
NM_000360.4(TH):c.599G>C (p.Arg200Pro)
|
rs201224335
|
|
NM_000360.4(TH):c.601C>T (p.Gln201Ter)
|
rs1057517423
|
|
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del)
|
rs1554923325
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.644+2T>A
|
rs1554923317
|
|
NM_000360.4(TH):c.644_644+15del
|
rs1554923305
|
|
NM_000360.4(TH):c.696-2A>G
|
rs1554923121
|
|
NM_000360.4(TH):c.717del (p.Lys240fs)
|
rs1057516712
|
|
NM_000360.4(TH):c.845dup (p.Thr283fs)
|
rs1554923004
|
|
NM_000360.4(TH):c.90+10C>T
|
rs1554924321
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
NM_000360.4(TH):c.90+1G>T
|
rs1554924329
|
|
NM_000360.4(TH):c.90+26G>A
|
rs191356744
|
|
NM_000360.4(TH):c.90+2_90+3dup
|
rs1554924328
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.91-838C>T
|
rs1195830888
|
|
NM_000360.4(TH):c.91-871C>T
|
rs1313952475
|
|
NM_000360.4(TH):c.91-896_91-885del
|
rs1554924102
|
|
NM_000360.4(TH):c.91-900G>A
|
rs1554924111
|
|
NM_000360.4(TH):c.91-901A>C
|
rs1554924114
|
|
NM_000360.4(TH):c.91-9_107del
|
rs1057516874
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000360.4(TH):c.921del (p.Phe308fs)
|
rs1057516491
|
|
NM_000360.4(TH):c.977+1G>A
|
rs1057516736
|
|
NM_000360.4(TH):c.997del (p.Leu333fs)
|
rs1057517162
|
|
NM_000370.3(TTPA):c.-1C>T
|
rs1349901379
|
|
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)
|
rs1008240677
|
|
NM_000370.3(TTPA):c.1A>T (p.Met1Leu)
|
rs1408863841
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)
|
rs1554524054
|
|
NM_000370.3(TTPA):c.2T>A (p.Met1Lys)
|
rs786204758
|
|
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)
|
rs1057516423
|
|
NM_000370.3(TTPA):c.441del (p.Glu148fs)
|
rs1057517448
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.552G>T (p.Thr184=)
|
rs181109321
|
|
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)
|
rs1554605498
|
|
NM_000370.3(TTPA):c.663+10_663+11insAC
|
rs757003890
|
|
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)
|
rs1554605276
|
|
NM_000370.3(TTPA):c.83_105del (p.Leu28fs)
|
rs1554525128
|
|
NM_000370.3(TTPA):c.88_118del (p.Ala30fs)
|
rs1554525125
|
|
NM_000380.3(XPA):c.-72_-47del
|
rs1249073186
|
|
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del)
|
rs1554703183
|
|
NM_000380.4(XPA):c.10del (p.Ala4fs)
|
rs779161471
|
|
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del)
|
rs755109935
|
|
NM_000380.4(XPA):c.172+1G>A
|
rs1554703119
|
|
NM_000380.4(XPA):c.172+1G>T
|
rs1554703119
|
|
NM_000380.4(XPA):c.197del (p.Pro66fs)
|
rs1554702629
|
|
NM_000380.4(XPA):c.235G>T (p.Glu79Ter)
|
rs1554702608
|
|
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del)
|
rs1554702607
|
|
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del)
|
rs3176652
|
|
NM_000380.4(XPA):c.283+1_283+6del
|
rs1554702597
|
|
NM_000380.4(XPA):c.2T>C (p.Met1Thr)
|
rs1253496792
|
|
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)
|
rs104894131
|
|
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)
|
rs104894131
|
|
NM_000380.4(XPA):c.344_346del (p.Ser115del)
|
rs1554701942
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
NM_000380.4(XPA):c.389+1G>A
|
rs1554701931
|
|
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)
|
rs1324310300
|
|
NM_000380.4(XPA):c.391del (p.Asp131fs)
|
rs1554701563
|
|
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del)
|
rs1554701553
|
|
NM_000380.4(XPA):c.428_429del (p.Glu143fs)
|
rs1554701540
|
|
NM_000380.4(XPA):c.439_441del (p.Glu147del)
|
rs1554701535
|
|
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)
|
rs1554701532
|
|
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer)
|
rs1240801740
|
|
NM_000380.4(XPA):c.472dup (p.Arg158fs)
|
rs1554701520
|
|
NM_000380.4(XPA):c.476_477del (p.Glu159fs)
|
rs781195170
|
|
NM_000380.4(XPA):c.532dup (p.Met178fs)
|
rs1326841833
|
|
NM_000380.4(XPA):c.548del (p.Lys183fs)
|
rs1554701488
|
|
NM_000380.4(XPA):c.555+1G>A
|
rs1554701481
|
|
NM_000380.4(XPA):c.555+2T>A
|
rs1554701478
|
|
NM_000380.4(XPA):c.563del (p.Lys188fs)
|
rs1554701152
|
|
NM_000380.4(XPA):c.572_573del (p.Leu191fs)
|
rs1554701144
|
|
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup)
|
rs1554701135
|
|
NM_000380.4(XPA):c.599T>G (p.Leu200Ter)
|
rs755803064
|
|
NM_000380.4(XPA):c.601_602del (p.Glu201fs)
|
rs1554701139
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
NM_000380.4(XPA):c.631dup (p.Arg211fs)
|
rs1554701129
|
|
NM_000380.4(XPA):c.666dup (p.Val223fs)
|
rs1554701103
|
|
NM_000380.4(XPA):c.673+2T>C
|
rs1019535182
|
|
NM_000380.4(XPA):c.677T>A (p.Leu226Ter)
|
rs1554699334
|
|
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)
|
rs1554699326
|
|
NM_000380.4(XPA):c.732dup (p.Glu245Ter)
|
rs1554699296
|
|
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)
|
rs758358436
|
|
NM_000380.4(XPA):c.772_785del (p.Arg258fs)
|
rs778543124
|
|
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)
|
rs1554699256
|
|
NM_000380.4(XPA):c.817dup (p.Met273fs)
|
rs754458042
|
|
NM_000382.2(ALDH3A2):c.154_155delAG
|
rs1428029642
|
|
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>A
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>C
|
rs1036733598
|
|
NM_000382.3(ALDH3A2):c.1108-1G>T
|
rs1036733598
|
|
NM_000382.3(ALDH3A2):c.1108-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.1207+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
|
|
|
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
|
|
|
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
|
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
|
|
|
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
|
|
|
NM_000382.3(ALDH3A2):c.1443+1222del
|
|
|
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
|
|
|
NM_000382.3(ALDH3A2):c.1444-1G>T
|
|
|
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
|
rs1057517403
|
|
NM_000382.3(ALDH3A2):c.153+2T>G
|
|
|
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
|
|
|
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
|
|
|
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
|
|
|
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
|
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
|
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
|
|
|
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
|
rs2152326510
|
|
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
|
|
|
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
|
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
NM_000382.3(ALDH3A2):c.471+2T>G
|
|
|
NM_000382.3(ALDH3A2):c.472-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs)
|
rs772967175
|
|
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
|
|
|
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
|
rs2152325575
|
|
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
|
|
|
NM_000382.3(ALDH3A2):c.798+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.798+1del
|
rs757359379
|
|
NM_000382.3(ALDH3A2):c.798+5G>A
|
|
|
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)
|
rs1057516788
|
|
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
|
|
|
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
|
rs779956047
|
|
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
|
|
|
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
|
rs746747637
|
|
NM_000383.3(AIRE):c.-653_-649dup
|
rs1555871683
|
|
NM_000383.3(AIRE):c.-656_-655insCCC
|
rs1016179869
|
|
NM_000383.4(AIRE):c.-24_1del (p.Met1fs)
|
rs1555871766
|
|
NM_000383.4(AIRE):c.1002del (p.Trp335fs)
|
rs769305771
|
|
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del)
|
rs1481102287
|
|
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup)
|
rs1481102287
|
|
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del)
|
rs1555872876
|
|
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)
|
rs1555872879
|
|
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del)
|
rs1555872881
|
|
NM_000383.4(AIRE):c.1084del (p.Val362fs)
|
rs1057517254
|
|
NM_000383.4(AIRE):c.1095+1G>A
|
rs1022025101
|
|
NM_000383.4(AIRE):c.1095+23_1095+64del
|
rs1037154559
|
|
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs)
|
rs1057516411
|
|
NM_000383.4(AIRE):c.1193del (p.Pro398fs)
|
rs1555872988
|
|
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs)
|
rs1555872997
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1278+1del
|
rs996389327
|
|
NM_000383.4(AIRE):c.1279-2A>G
|
rs1555873087
|
|
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly)
|
rs1555873106
|
|
NM_000383.4(AIRE):c.1470dup (p.Ser491fs)
|
rs1555873248
|
|
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)
|
rs1057517072
|
|
NM_000383.4(AIRE):c.1566+2dup
|
rs1057516811
|
|
NM_000383.4(AIRE):c.1567-2A>G
|
rs1555873650
|
|
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)
|
rs1057516272
|
|
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter)
|
rs1472708073
|
|
NM_000383.4(AIRE):c.1612del (p.Arg538fs)
|
rs1555873662
|
|
NM_000383.4(AIRE):c.20_24del (p.Leu7fs)
|
rs1555871777
|
|
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter)
|
rs1057516499
|
|
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter)
|
rs1057516225
|
|
NM_000383.4(AIRE):c.260del (p.Leu87fs)
|
rs1057517428
|
|
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs)
|
rs1555871928
|
|
NM_000383.4(AIRE):c.328del (p.Arg110fs)
|
rs1162316051
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs)
|
rs1057516314
|
|
NM_000383.4(AIRE):c.464-2A>T
|
rs1032171597
|
|
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs)
|
rs1555872060
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr)
|
rs1555871798
|
|
NM_000383.4(AIRE):c.652+2T>C
|
rs1555872272
|
|
NM_000383.4(AIRE):c.798+1G>C
|
rs138489664
|
|
NM_000383.4(AIRE):c.798+1G>T
|
rs138489664
|
|
NM_000383.4(AIRE):c.809_810del (p.Glu270fs)
|
rs1057517268
|
|
NM_000383.4(AIRE):c.880-451G>A
|
rs267606153
|
|
NM_000383.4(AIRE):c.931del (p.Cys311fs)
|
rs1555872755
|
|
NM_000383.4(AIRE):c.977del (p.Pro326fs)
|
rs1057517011
|
|
NM_000390.4(CHM):c.116+1G>A
|
rs786204761
|
|
NM_000390.4(CHM):c.1A>G (p.Met1Val)
|
rs1057516265
|
|
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)
|
rs1554901785
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1076-1G>A
|
rs1554901731
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1076-2A>T
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1145+1G>A
|
rs113019349
|
|
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)
|
rs1057516319
|
|
NM_000391.4(TPP1):c.1267-56_1267-37del
|
rs1554901606
|
|
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)
|
rs1554901576
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs)
|
rs1407106889
|
|
NM_000391.4(TPP1):c.1449del (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)
|
rs763961289
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1G>T
|
rs786204553
|
|
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)
|
rs1554901463
|
|
NM_000391.4(TPP1):c.1661dup (p.Ala555fs)
|
rs1057516579
|
|
NM_000391.4(TPP1):c.17+1G>A
|
rs779615685
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.230-1G>C
|
rs1057516667
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter)
|
rs1554902043
|
|
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)
|
rs1554902028
|
|
NM_000391.4(TPP1):c.508+2dup
|
rs1554902017
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.609dup (p.Val204fs)
|
rs1057516366
|
|
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)
|
rs752164603
|
|
NM_000391.4(TPP1):c.687+2T>G
|
rs1057516945
|
|
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)
|
rs1554901895
|
|
NM_000391.4(TPP1):c.819del (p.Ser274fs)
|
rs1057517313
|
|
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)
|
rs796053439
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)
|
rs750595350
|
|
NM_000396.4(CTSK):c.121-2A>G
|
rs1057516587
|
|
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter)
|
rs780202604
|
|
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)
|
rs1553197476
|
|
NM_000396.4(CTSK):c.243+1G>A
|
rs1057517263
|
|
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)
|
rs762212949
|
|
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)
|
rs1057517252
|
|
NM_000396.4(CTSK):c.395dup (p.Asn132fs)
|
rs1057516725
|
|
NM_000396.4(CTSK):c.399+2del
|
rs1057516839
|
|
NM_000396.4(CTSK):c.3G>A (p.Met1Ile)
|
rs778368118
|
|
NM_000396.4(CTSK):c.3G>T (p.Met1Ile)
|
rs778368118
|
|
NM_000396.4(CTSK):c.400-1G>C
|
rs1553197262
|
|
NM_000396.4(CTSK):c.423_450del (p.Phe142fs)
|
rs1057516627
|
|
NM_000396.4(CTSK):c.426del (p.Phe142fs)
|
rs1057516514
|
|
NM_000396.4(CTSK):c.48del (p.Tyr17fs)
|
rs1057516790
|
|
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)
|
rs202040269
|
|
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs)
|
rs1553197239
|
|
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)
|
rs747914097
|
|
NM_000396.4(CTSK):c.618+1G>A
|
rs1553197230
|
|
NM_000396.4(CTSK):c.648del (p.Lys217fs)
|
rs1057516891
|
|
NM_000396.4(CTSK):c.669del (p.Tyr224fs)
|
rs1553196945
|
|
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)
|
rs758450569
|
|
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)
|
rs74315303
|
|
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)
|
rs770343722
|
|
NM_000396.4(CTSK):c.784+1G>A
|
rs1553196934
|
|
NM_000396.4(CTSK):c.826del (p.His276fs)
|
rs1553196906
|
|
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)
|
rs74315304
|
|
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)
|
rs1553196900
|
|
NM_000396.4(CTSK):c.891-21_892dup
|
rs1553196764
|
|
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)
|
rs375958814
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)
|
rs1553606130
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)
|
rs1553606091
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)
|
rs1803200
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)
|
rs1553604682
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)
|
rs1553604656
|
|
NM_000404.4(GLB1):c.2011del (p.Asp671fs)
|
rs1553604655
|
|
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)
|
rs1553604645
|
|
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)
|
rs1553604644
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
NM_000404.4(GLB1):c.302del (p.Asp101fs)
|
rs1553612213
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
NM_000404.4(GLB1):c.425_426del (p.Lys142fs)
|
rs1553612150
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.501C>T (p.Pro167=)
|
rs1553611799
|
|
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)
|
rs1553611789
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
|
rs1553611055
|
|
NM_000404.4(GLB1):c.626del (p.His209fs)
|
rs1553611044
|
|
NM_000404.4(GLB1):c.645_648del (p.Val216fs)
|
rs1553611040
|
|
NM_000404.4(GLB1):c.65_75+1del
|
rs1382394474
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.733+2_733+4del
|
rs1553611016
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
NM_000404.4(GLB1):c.93G>A (p.Met31Ile)
|
rs1553612598
|
|
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)
|
rs72555361
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000414.4(HSD17B4):c.113-1G>T
|
rs1224475289
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter)
|
rs1057516735
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.1334-2A>T
|
rs1554066421
|
|
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
|
|
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs)
|
rs1057516859
|
|
NM_000414.4(HSD17B4):c.1504-2A>C
|
rs1554068134
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)
|
rs587777444
|
|
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val)
|
rs1554068261
|
|
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu)
|
rs1554068269
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)
|
rs1057516936
|
|
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)
|
rs1554068426
|
|
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del)
|
rs1554062119
|
|
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)
|
rs1057516312
|
|
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs)
|
rs1057517152
|
|
NM_000414.4(HSD17B4):c.1993+2T>G
|
rs1554068960
|
|
NM_000414.4(HSD17B4):c.1994-2A>G
|
rs1554069592
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.2121+1G>C
|
rs1554069610
|
|
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter)
|
rs1554070146
|
|
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys)
|
rs1554062124
|
|
NM_000414.4(HSD17B4):c.220+2T>C
|
rs1231357043
|
|
NM_000414.4(HSD17B4):c.221-1G>C
|
rs1554062168
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.349+1G>T
|
rs1057516958
|
|
NM_000414.4(HSD17B4):c.435-2A>T
|
rs1171426785
|
|
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr)
|
rs1554062814
|
|
NM_000414.4(HSD17B4):c.56_58+3del
|
rs1554059509
|
|
NM_000414.4(HSD17B4):c.58+127_58+129del
|
rs1394106982
|
|
NM_000414.4(HSD17B4):c.58+189G>C
|
rs1554059562
|
|
NM_000414.4(HSD17B4):c.58+189del
|
rs1554059560
|
|
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs)
|
rs1057516310
|
|
NM_000414.4(HSD17B4):c.623-1G>A
|
rs1554064083
|
|
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe)
|
rs1554064092
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs)
|
rs1057516750
|
|
NM_000414.4(HSD17B4):c.739+2dup
|
rs1554064396
|
|
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)
|
rs1057516269
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000414.4(HSD17B4):c.973-2A>C
|
rs1057517118
|
|
NM_000426.4(LAMA2):c.1027+1G>T
|
rs1064797327
|
|
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)
|
rs1360796756
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-1G>A
|
rs1554234051
|
|
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser)
|
rs1554234086
|
|
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del)
|
rs1554234118
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del)
|
rs775570308
|
|
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del)
|
rs1165542235
|
|
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del)
|
rs753417521
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2096+1G>A
|
rs1554256965
|
|
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup)
|
rs1347823295
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
NM_000426.4(LAMA2):c.2323-1G>A
|
rs1278823424
|
|
NM_000426.4(LAMA2):c.2450+5_2450+8del
|
rs1554260313
|
|
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
|
rs186538779
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)
|
rs1018100729
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.30_32del (p.Leu13del)
|
rs1278217420
|
|
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)
|
rs376088608
|
|
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)
|
rs764839142
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3736-2A>G
|
rs372715292
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle)
|
rs1554270059
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu)
|
rs727502850
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.4436+1G>C
|
rs376430565
|
|
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del)
|
rs1554277753
|
|
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys)
|
rs751053800
|
|
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser)
|
rs1409043489
|
|
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)
|
rs770084568
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del)
|
rs1554278670
|
|
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)
|
rs1246940477
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
NM_000426.4(LAMA2):c.4717+1G>C
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4717+1G>T
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del)
|
rs1554281282
|
|
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del)
|
rs1192484658
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
|
rs201632009
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del)
|
rs1554286976
|
|
NM_000426.4(LAMA2):c.5235-18G>A
|
rs188365084
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del)
|
rs1225610123
|
|
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del)
|
rs767066183
|
|
NM_000426.4(LAMA2):c.5865+2T>G
|
rs1554290316
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
NM_000426.4(LAMA2):c.5866-2A>G
|
rs1554295204
|
|
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup)
|
rs1554295259
|
|
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)
|
rs886043693
|
|
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr)
|
rs1204310516
|
|
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)
|
rs758495000
|
|
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)
|
rs886061039
|
|
NM_000426.4(LAMA2):c.6269-831C>T
|
rs371162111
|
|
NM_000426.4(LAMA2):c.6269-845C>T
|
rs1554297888
|
|
NM_000426.4(LAMA2):c.6269-848T>A
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-848T>C
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-849C>T
|
rs1554297881
|
|
NM_000426.4(LAMA2):c.6269-852A>C
|
rs766496312
|
|
NM_000426.4(LAMA2):c.6269-855A>C
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6269-855A>G
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6429+1G>C
|
rs1262029350
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.6573+1G>A
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6573+1G>T
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)
|
rs757404275
|
|
NM_000426.4(LAMA2):c.6992+5G>A
|
rs1221715098
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del)
|
rs1350705904
|
|
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)
|
rs1554303937
|
|
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=)
|
rs886038295
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del)
|
rs762065775
|
|
NM_000426.4(LAMA2):c.8076-1G>A
|
rs1554310169
|
|
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)
|
rs1289855948
|
|
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer)
|
rs1554310242
|
|
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)
|
rs886043648
|
|
NM_000426.4(LAMA2):c.819+1G>A
|
rs1554226186
|
|
NM_000426.4(LAMA2):c.819+2dup
|
rs765817742
|
|
NM_000426.4(LAMA2):c.8548-2A>G
|
rs369224209
|
|
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro)
|
rs1554316199
|
|
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup)
|
rs1554317110
|
|
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr)
|
rs1554317120
|
|
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del)
|
rs1554317173
|
|
NM_000426.4(LAMA2):c.8858-1G>A
|
rs1554319117
|
|
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup)
|
rs1437850233
|
|
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs)
|
rs1554320205
|
|
NM_000426.4(LAMA2):c.9211+1G>A
|
rs1554320318
|
|
NM_000426.4(LAMA2):c.9212-2A>G
|
rs1554321125
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup)
|
rs1554321180
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000441.2(SLC26A4):c.-8G>A
|
rs886061882
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001+5G>T
|
rs780131226
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)
|
rs1374999656
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)
|
rs1057517042
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs)
|
rs1057516354
|
|
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg)
|
rs1376210516
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup)
|
rs1554359598
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1341+3A>C
|
rs1216900843
|
|
NM_000441.2(SLC26A4):c.1342-1G>T
|
rs1057517298
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr)
|
rs1554359686
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1437+2dup
|
rs1554359702
|
|
NM_000441.2(SLC26A4):c.1438-2A>G
|
rs1057516717
|
|
NM_000441.2(SLC26A4):c.1438-7del
|
rs753586849
|
|
NM_000441.2(SLC26A4):c.1438-7dup
|
rs753586849
|
|
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg)
|
rs111033308
|
|
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro)
|
rs1554352291
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp)
|
rs1554359973
|
|
NM_000441.2(SLC26A4):c.1539_1544+6del
|
rs1057516535
|
|
NM_000441.2(SLC26A4):c.1544+1G>A
|
rs876657722
|
|
NM_000441.2(SLC26A4):c.1544+9C>G
|
rs368970459
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>A
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.165-13T>G
|
rs774685849
|
|
NM_000441.2(SLC26A4):c.165-2A>G
|
rs786204458
|
|
NM_000441.2(SLC26A4):c.165-3C>G
|
rs1436250461
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)
|
rs111033200
|
|
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)
|
rs1554360841
|
|
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter)
|
rs786204502
|
|
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp)
|
rs1057517161
|
|
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala)
|
rs1554361015
|
|
NM_000441.2(SLC26A4):c.1966del (p.His656fs)
|
rs1057516636
|
|
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg)
|
rs1554361031
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter)
|
rs1554361584
|
|
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs)
|
rs1057516796
|
|
NM_000441.2(SLC26A4):c.2089+2T>A
|
rs1554361624
|
|
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)
|
rs147733656
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)
|
rs145805875
|
|
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del)
|
rs1554362748
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)
|
rs1298217152
|
|
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=)
|
rs1387758666
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)
|
rs1057517303
|
|
NM_000441.2(SLC26A4):c.2235+2T>C
|
rs1554362815
|
|
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs)
|
rs1554363275
|
|
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del)
|
rs1554363304
|
|
NM_000441.2(SLC26A4):c.2320-1G>A
|
rs1554363892
|
|
NM_000441.2(SLC26A4):c.2320-4A>G
|
rs727503432
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr)
|
rs532132864
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg)
|
rs1554354367
|
|
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile)
|
rs1554354370
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly)
|
rs751256128
|
|
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro)
|
rs1554354382
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.415+5_415+10del
|
rs766751379
|
|
NM_000441.2(SLC26A4):c.416-16G>T
|
rs114992866
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)
|
rs1554354787
|
|
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)
|
rs761210511
|
|
NM_000441.2(SLC26A4):c.454del (p.Val152fs)
|
rs1554354801
|
|
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile)
|
rs200229408
|
|
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del)
|
rs1554352212
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)
|
rs1057516678
|
|
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala)
|
rs1434359940
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.765+4A>C
|
rs774353111
|
|
NM_000441.2(SLC26A4):c.765_765+3del
|
rs756076960
|
|
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer)
|
rs1057517246
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)
|
rs1554352240
|
|
NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln)
|
rs867212046
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.919-19_932del
|
rs1554357206
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
NM_000455.5(STK11):c.1062C>T (p.Phe354=)
|
rs59912467
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)
|
rs864622448
|
|
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)
|
rs587782439
|
|
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)
|
rs587782687
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
NM_000455.5(STK11):c.290+21_290+26dup
|
rs1555735086
|
|
NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
|
|
NM_000455.5(STK11):c.375-5C>T
|
rs1057517626
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.464+20del
|
rs730881960
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
|
NM_000455.5(STK11):c.465-17GT[2]
|
rs749644491
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.537G>A (p.Pro179=)
|
rs528535500
|
|
NM_000455.5(STK11):c.56C>T (p.Ser19Leu)
|
rs1426026332
|
|
NM_000455.5(STK11):c.597+15G>T
|
rs774187994
|
|
NM_000455.5(STK11):c.597+21dup
|
rs534445875
|
|
NM_000455.5(STK11):c.598-11C>T
|
rs587782431
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
|
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)
|
rs587780721
|
|
NM_000455.5(STK11):c.734+17C>A
|
rs751929304
|
|
NM_000455.5(STK11):c.734+19dup
|
rs730881962
|
|
NM_000455.5(STK11):c.735-19C>T
|
rs1057517576
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
NM_000455.5(STK11):c.836_837delinsCT (p.Gly279Ala)
|
rs1057517603
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCA
|
rs1057517545
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
NM_000455.5(STK11):c.980A>G (p.Asp327Gly)
|
rs864622638
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)
|
rs1060501279
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys)
|
rs876660325
|
|
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup)
|
rs763622701
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1811-16dup
|
rs760333316
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.215+20T>C
|
rs200715720
|
|
NM_000465.4(BARD1):c.216-9A>T
|
rs759575504
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg)
|
rs878854008
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.364+16A>G
|
rs201219625
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)
|
rs1357462196
|
|
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)
|
rs1057517488
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del)
|
rs1554375280
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)
|
rs1057517520
|
|
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup)
|
rs1554378340
|
|
NM_000466.3(PEX1):c.1239+1G>A
|
rs756876301
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])
|
rs1554373613
|
|
NM_000466.3(PEX1):c.1527del (p.Glu510fs)
|
rs1057517497
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+2T>C
|
rs1554373578
|
|
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del)
|
rs1554373273
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+5G>T
|
rs201343162
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)
|
rs1057517464
|
|
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)
|
rs1057517529
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)
|
rs1057517486
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del)
|
rs1554372090
|
|
NM_000466.3(PEX1):c.2071+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])
|
rs1554371691
|
|
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del)
|
rs1554371157
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)
|
rs1554371019
|
|
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)
|
rs1057517470
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2719-2A>G
|
rs1554369234
|
|
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
|
rs1057517503
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)
|
rs1554368794
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)
|
rs1554368148
|
|
NM_000466.3(PEX1):c.3207+2C>A
|
rs1554368097
|
|
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)
|
rs1057517509
|
|
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)
|
rs1554367358
|
|
NM_000466.3(PEX1):c.3438+1G>T
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)
|
rs1057517480
|
|
NM_000466.3(PEX1):c.357+1G>A
|
rs866144313
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.358-2A>G
|
rs1057517500
|
|
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)
|
rs1160117945
|
|
NM_000466.3(PEX1):c.3626del (p.Ser1209fs)
|
rs1554366766
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)
|
rs1554378403
|
|
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)
|
rs1554366550
|
|
NM_000466.3(PEX1):c.3767+1_3767+2dup
|
rs1383361108
|
|
NM_000466.3(PEX1):c.3768-1G>A
|
rs770868309
|
|
NM_000466.3(PEX1):c.3768-2A>T
|
rs1554365998
|
|
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)
|
rs758748151
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.431dup (p.Val145fs)
|
rs1057517506
|
|
NM_000466.3(PEX1):c.472+1G>A
|
rs762852144
|
|
NM_000466.3(PEX1):c.473-1G>A
|
rs1554375661
|
|
NM_000466.3(PEX1):c.473-1G>C
|
rs1554375661
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.760dup (p.Ser254fs)
|
rs1554375511
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1017dup (p.His340fs)
|
rs764908423
|
|
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)
|
rs1553414560
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
NM_000478.6(ALPL):c.1062G>C (p.Glu354Asp)
|
rs1553414568
|
|
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs)
|
rs1057517322
|
|
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs)
|
rs1553414600
|
|
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)
|
rs1553414611
|
|
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile)
|
rs771540767
|
|
NM_000478.6(ALPL):c.114del (p.Lys38fs)
|
rs1057517321
|
|
NM_000478.6(ALPL):c.1171dup (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)
|
rs1344601362
|
|
NM_000478.6(ALPL):c.1181_1186del (p.Ser394_Ile395del)
|
rs1553414630
|
|
NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs)
|
rs1553414843
|
|
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)
|
rs1553414868
|
|
NM_000478.6(ALPL):c.129del (p.Gln44fs)
|
rs763244290
|
|
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)
|
rs1057516293
|
|
NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter)
|
rs1553415035
|
|
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro)
|
rs1553415041
|
|
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)
|
rs1054159992
|
|
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)
|
rs1057517173
|
|
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)
|
rs1229517379
|
|
NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs)
|
rs1057517337
|
|
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)
|
rs772638759
|
|
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)
|
rs1553415164
|
|
NM_000478.6(ALPL):c.1575A>G (p.Ter525Trp)
|
rs1553415176
|
|
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del)
|
rs766831104
|
|
NM_000478.6(ALPL):c.174G>A (p.Leu58=)
|
rs757176737
|
|
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)
|
rs121918001
|
|
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs)
|
rs1553411920
|
|
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)
|
rs1045735640
|
|
NM_000478.6(ALPL):c.297+2T>A
|
rs1057517304
|
|
NM_000478.6(ALPL):c.318G>C (p.Gln106His)
|
rs1553412268
|
|
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)
|
rs1384701659
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
NM_000478.6(ALPL):c.392del (p.Ser131fs)
|
rs1553412310
|
|
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)
|
rs786204530
|
|
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)
|
rs121918011
|
|
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)
|
rs916300043
|
|
NM_000478.6(ALPL):c.427del (p.Gln143fs)
|
rs760134827
|
|
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)
|
rs1057516230
|
|
NM_000478.6(ALPL):c.485G>T (p.Gly162Val)
|
rs121918012
|
|
NM_000478.6(ALPL):c.497C>T (p.Thr166Ile)
|
rs1176474582
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.61+2T>G
|
rs764322898
|
|
NM_000478.6(ALPL):c.61G>A (p.Glu21Lys)
|
rs1553410728
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)
|
rs747488546
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.662dup (p.Gly222fs)
|
rs769948289
|
|
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)
|
rs1226800998
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.841del (p.His281fs)
|
rs1057516526
|
|
NM_000478.6(ALPL):c.862+1G>A
|
rs1553413512
|
|
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)
|
rs786204473
|
|
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)
|
rs1553411779
|
|
NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr)
|
rs1553414079
|
|
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)
|
rs755529290
|
|
NM_000478.6(ALPL):c.903del (p.Asn302fs)
|
rs768160006
|
|
NM_000478.6(ALPL):c.928_929del (p.Ser310fs)
|
rs1057516702
|
|
NM_000478.6(ALPL):c.963del (p.Lys322fs)
|
rs1553414133
|
|
NM_000478.6(ALPL):c.997+2T>G
|
rs1057517391
|
|
NM_000478.6(ALPL):c.997+3A>G
|
rs1553414147
|
|
NM_000478.6(ALPL):c.998-2A>G
|
rs1057516622
|
|
NM_000481.4(AMT):c.1033+2T>C
|
rs1553638247
|
|
NM_000481.4(AMT):c.1033+2dup
|
rs976598152
|
|
NM_000481.4(AMT):c.1034-1dup
|
rs1238918084
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)
|
rs747544827
|
|
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)
|
rs1553638206
|
|
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs)
|
rs1553638191
|
|
NM_000481.4(AMT):c.1209del (p.Lys403fs)
|
rs1553638189
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.348_349del (p.Ser117fs)
|
rs1553638649
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
NM_000481.4(AMT):c.696+1G>A
|
rs1553638460
|
|
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup)
|
rs1553638433
|
|
NM_000481.4(AMT):c.849dup (p.Val284fs)
|
rs1553638408
|
|
NM_000481.4(AMT):c.875del (p.Leu292fs)
|
rs1553638405
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000487.6(ARSA):c.-15A>G
|
rs909454884
|
|
NM_000487.6(ARSA):c.-35_-8del
|
rs759081183
|
|
NM_000487.6(ARSA):c.1036del (p.Ala346fs)
|
rs1555900463
|
|
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)
|
rs753415648
|
|
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup)
|
rs1555901139
|
|
NM_000487.6(ARSA):c.1107+1del
|
rs1057517036
|
|
NM_000487.6(ARSA):c.1108-2A>G
|
rs398123411
|
|
NM_000487.6(ARSA):c.1108-3C>G
|
rs1001100248
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1210+1G>T
|
rs80338820
|
|
NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs)
|
rs1555900191
|
|
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)
|
rs765905826
|
|
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer)
|
rs1555900150
|
|
NM_000487.6(ARSA):c.1337del (p.Gly446fs)
|
rs750030142
|
|
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)
|
rs761555167
|
|
NM_000487.6(ARSA):c.1388del (p.Leu463fs)
|
rs1057517237
|
|
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del)
|
rs774153480
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.185_186dup (p.Asp63fs)
|
rs1227301119
|
|
NM_000487.6(ARSA):c.206_209del (p.Ser69fs)
|
rs1555901112
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
NM_000487.6(ARSA):c.224+1G>A
|
rs1555901108
|
|
NM_000487.6(ARSA):c.225-2A>G
|
rs1555901083
|
|
NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs)
|
rs1057516595
|
|
NM_000487.6(ARSA):c.240dup (p.Gly81fs)
|
rs786204599
|
|
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)
|
rs74315458
|
|
NM_000487.6(ARSA):c.295dup (p.Arg99fs)
|
rs1555901056
|
|
NM_000487.6(ARSA):c.2T>C (p.Met1Thr)
|
rs1555901170
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000487.6(ARSA):c.304del (p.Leu102fs)
|
rs786204673
|
|
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal)
|
rs1555901024
|
|
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)
|
rs74315462
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.418del (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)
|
rs1057516730
|
|
NM_000487.6(ARSA):c.465+2T>A
|
rs1555900989
|
|
NM_000487.6(ARSA):c.466-2A>G
|
rs1057517044
|
|
NM_000487.6(ARSA):c.494dup (p.Pro166fs)
|
rs1057517346
|
|
NM_000487.6(ARSA):c.495_501del (p.Pro166fs)
|
rs1057517429
|
|
NM_000487.6(ARSA):c.545del (p.Pro182fs)
|
rs1057516907
|
|
NM_000487.6(ARSA):c.622del (p.His208fs)
|
rs1555900900
|
|
NM_000487.6(ARSA):c.674_675dup (p.Ala226fs)
|
rs1057516373
|
|
NM_000487.6(ARSA):c.684+2dup
|
rs1555900843
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.758dup (p.Met254fs)
|
rs74315270
|
|
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)
|
rs74315483
|
|
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)
|
rs1555900678
|
|
NM_000487.6(ARSA):c.891del (p.Gly298fs)
|
rs1057517073
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)
|
rs199476379
|
|
NM_000487.6(ARSA):c.925dup (p.Glu309fs)
|
rs1555900623
|
|
NM_000487.6(ARSA):c.929del (p.Gly310fs)
|
rs1057516638
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)
|
rs199476368
|
|
NM_000487.6(ARSA):c.979+1G>A
|
rs754722529
|
|
NM_000487.6(ARSA):c.979_979+3del
|
rs1057516887
|
|
NM_000487.6(ARSA):c.980-2A>C
|
rs769152137
|
|
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)
|
rs398123418
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
NM_000492.3(CFTR):c.-495C>T
|
rs397507565
|
|
NM_000492.3(CFTR):c.-600dup
|
rs747238661
|
|
NM_000492.3(CFTR):c.-674T>C
|
rs1554372953
|
|
NM_000492.3(CFTR):c.-893_-891del
|
rs780557040
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
NM_000492.4(CFTR):c.-8GA[4]
|
rs1554373081
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser)
|
rs573808767
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1117-2A>G
|
rs1554381596
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del)
|
rs1554382616
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)
|
rs1554382653
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1415dup (p.Met472fs)
|
rs1554384343
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1584+11_1584+13dup
|
rs1554384454
|
|
NM_000492.4(CFTR):c.1584+4A>T
|
rs953352440
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1585-9T>C
|
rs397508234
|
|
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn)
|
rs397508235
|
|
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val)
|
rs1387755887
|
|
NM_000492.4(CFTR):c.164+1G>C
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1679+116G>T
|
rs207468451
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)
|
rs1554376387
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-2dup
|
rs1554389008
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-883A>G
|
rs1554388867
|
|
NM_000492.4(CFTR):c.1680-885T>C
|
rs1281580863
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)
|
rs1375786834
|
|
NM_000492.4(CFTR):c.16C>G (p.Leu6Val)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1767-1G>A
|
rs1554389241
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter)
|
rs984281283
|
|
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del)
|
rs1554389478
|
|
NM_000492.4(CFTR):c.2429del (p.Arg810fs)
|
rs1057516236
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2483dup (p.Asp828fs)
|
rs1057517276
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+4_2490+6dup
|
rs1554389497
|
|
NM_000492.4(CFTR):c.2491-2A>C
|
rs397508386
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu)
|
rs774507425
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2619G>A (p.Glu873=)
|
rs397508409
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val)
|
rs397508423
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-3T>C
|
rs1554379763
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2854del (p.Met952fs)
|
rs1057517032
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2908+3A>C
|
rs1554391091
|
|
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT
|
rs1554391448
|
|
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs)
|
rs1554391454
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2986dup (p.Gln996fs)
|
rs1554391491
|
|
NM_000492.4(CFTR):c.2988+1G>C
|
rs75096551
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.3140-1G>A
|
rs397508506
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly)
|
rs1800114
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)
|
rs397508538
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)
|
rs1554392282
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)
|
rs1554392295
|
|
NM_000492.4(CFTR):c.3367+3A>G
|
rs1194763712
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3368-19G>A
|
rs374104839
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr)
|
rs397508568
|
|
NM_000492.4(CFTR):c.3468+1G>A
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter)
|
rs1057516609
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala)
|
rs1554395363
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)
|
rs1057517404
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+1G>T
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-26dup
|
rs1554396371
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.3963+1G>C
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+2T>G
|
rs397508650
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs)
|
rs1554379846
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4199del (p.Cys1400fs)
|
rs1554397593
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)
|
rs397508707
|
|
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del)
|
rs747078069
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)
|
rs1554397769
|
|
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)
|
rs1554397772
|
|
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)
|
rs121909043
|
|
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter)
|
rs397508718
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+87_489+88dup
|
rs1554379931
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000492.4(CFTR):c.490-26del
|
rs781120531
|
|
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly)
|
rs1554380309
|
|
NM_000492.4(CFTR):c.506dup (p.Ser169fs)
|
rs1554380311
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)
|
rs766640075
|
|
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter)
|
rs1057516232
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.657dup (p.Gln220fs)
|
rs1554380465
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn)
|
rs1554380796
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter)
|
rs1199914684
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)
|
rs1057516619
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-1G>C
|
rs1351058559
|
|
NM_000492.4(CFTR):c.870-5dup
|
rs759762840
|
|
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs)
|
rs1057516387
|
|
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr)
|
rs1180803268
|
|
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp)
|
rs397508818
|
|
NM_000492.4(CFTR):c.926C>T (p.Ala309Val)
|
rs397508818
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)
|
rs397508819
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)
|
rs368944209
|
|
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)
|
rs4541
|
|
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)
|
rs1379392398
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)
|
rs1554652650
|
|
NM_000497.4(CYP11B1):c.1398+2T>C
|
rs577022490
|
|
NM_000497.4(CYP11B1):c.147del (p.Trp49fs)
|
rs748867146
|
|
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)
|
rs1554652528
|
|
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)
|
rs1383321200
|
|
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)
|
rs1554653675
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter)
|
rs1554653551
|
|
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)
|
rs764418169
|
|
NM_000497.4(CYP11B1):c.372del (p.His125fs)
|
rs1554653520
|
|
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)
|
rs377423817
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter)
|
rs1554653714
|
|
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)
|
rs1554653191
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)
|
rs535861895
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)
|
rs1554653044
|
|
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)
|
rs866430018
|
|
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)
|
rs1554652999
|
|
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)
|
rs1554652998
|
|
NM_000497.4(CYP11B1):c.799+1G>C
|
rs1554652990
|
|
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)
|
rs775128501
|
|
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.955-15_955-1del
|
rs1554652823
|
|
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
|
rs1326688256
|
|
NM_000500.7:c.*28697405C>T
|
|
|
NM_000500.7:c.*28697972C>G
|
|
|
NM_000500.7:c.*28698024_*28698031del8
|
|
|
NM_000500.7:c.*28698317T>A
|
|
|
NM_000500.7:c.*28699001G>T
|
|
|
NM_000500.7:c.*28699080dupT
|
|
|
NM_000500.7:c.*28699312C>T
|
|
|
NM_000500.7:c.*28699426C>T
|
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*132+34C>A
|
rs1277208445
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.147del (p.Ser50fs)
|
rs1554917947
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.2T>G (p.Met1Arg)
|
rs33941849
|
|
NM_000518.5(HBB):c.315+1G>C
|
rs33945777
|
|
NM_000518.5(HBB):c.316-1G>A
|
rs33952266
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.328G>A (p.Val110Met)
|
rs33969677
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.46del (p.Trp16fs)
|
rs63749960
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)
|
rs33950507
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.92+2T>A
|
rs33956879
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
NM_000518.5(HBB):c.92+5G>T
|
rs33915217
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.93-15T>G
|
rs35456885
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
NM_000520.6(HEXA):c.-1dup (p.Met1fs)
|
rs1555475553
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)
|
rs1555472604
|
|
NM_000520.6(HEXA):c.1008G>C (p.Gln336His)
|
rs1555472602
|
|
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly)
|
rs1555475512
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1073+1G>T
|
rs76173977
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter)
|
rs1057516617
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)
|
rs1555472440
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs)
|
rs1555472432
|
|
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1])
|
rs1555472429
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs)
|
rs1555475498
|
|
NM_000520.6(HEXA):c.1421+11del
|
rs922064515
|
|
NM_000520.6(HEXA):c.1421+13dup
|
rs780193130
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+15G>T
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter)
|
rs1555472270
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1526+2T>C
|
rs1555472262
|
|
NM_000520.6(HEXA):c.1571del (p.Gln524fs)
|
rs1555472158
|
|
NM_000520.6(HEXA):c.1578del (p.Phe526fs)
|
rs1555472157
|
|
NM_000520.6(HEXA):c.183_193del (p.Asp62fs)
|
rs1057516640
|
|
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter)
|
rs1057516957
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.211C>G (p.Leu71Val)
|
rs775000497
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.24_25del (p.Ser9fs)
|
rs1057517348
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del)
|
rs1555473140
|
|
NM_000520.6(HEXA):c.459+2dup
|
rs1555473138
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)
|
rs1064794856
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.806-1G>C
|
rs1057516908
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.941A>T (p.Asp314Val)
|
rs1555472696
|
|
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter)
|
rs786204515
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000520.6(HEXA):c.977del (p.Phe326fs)
|
rs756040251
|
|
NM_000521.4(HEXB):c.*4dup (p.Ter557=)
|
rs771506320
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.118del (p.Ala40fs)
|
rs1554034447
|
|
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)
|
rs797045614
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.133del (p.Ala45fs)
|
rs1554034449
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])
|
rs750595127
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1520del (p.Ser507fs)
|
rs1554037120
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-25_1614-7dup
|
rs1554037306
|
|
NM_000521.4(HEXB):c.1614-8_1614-6dup
|
rs1271274603
|
|
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)
|
rs1554037322
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.299+1G>A
|
rs1554034505
|
|
NM_000521.4(HEXB):c.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)
|
rs761117459
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.512-1G>T
|
rs1554035308
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.56del (p.Leu19fs)
|
rs1554034423
|
|
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)
|
rs1554034424
|
|
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)
|
rs887796660
|
|
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)
|
rs1554034426
|
|
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)
|
rs745791892
|
|
NM_000521.4(HEXB):c.825del (p.Ile275fs)
|
rs1554036523
|
|
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)
|
rs1554034432
|
|
NM_000521.4(HEXB):c.902-1G>T
|
rs1554036638
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.-135_-134insCT
|
rs1554901983
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)
|
rs1554901866
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)
|
rs1554901679
|
|
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)
|
rs1554901658
|
|
NM_000528.4(MAN2B1):c.1026+2T>C
|
rs369099686
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)
|
rs1057516524
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
NM_000528.4(MAN2B1):c.1308_1309+2del
|
rs1555708282
|
|
NM_000528.4(MAN2B1):c.1309+1G>T
|
rs1057516745
|
|
NM_000528.4(MAN2B1):c.1310-1G>A
|
rs1555708156
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)
|
rs1555708126
|
|
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)
|
rs1057517316
|
|
NM_000528.4(MAN2B1):c.1527+1G>C
|
rs1322313985
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
NM_000528.4(MAN2B1):c.159+1G>A
|
rs1555710254
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)
|
rs1057516459
|
|
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)
|
rs1057516289
|
|
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del)
|
rs779241409
|
|
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.2046+1G>A
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2046+1G>T
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2047-1G>A
|
rs1057517166
|
|
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)
|
rs1555706774
|
|
NM_000528.4(MAN2B1):c.2165+1del
|
rs1555706752
|
|
NM_000528.4(MAN2B1):c.2166-10_2166-2del
|
rs1555706734
|
|
NM_000528.4(MAN2B1):c.2268-1G>C
|
rs1555706596
|
|
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)
|
rs1555710070
|
|
NM_000528.4(MAN2B1):c.2355+33C>T
|
rs374660827
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2436+1G>A
|
rs200036864
|
|
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro)
|
rs1555706406
|
|
NM_000528.4(MAN2B1):c.2665-1G>C
|
rs1555706185
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)
|
rs1057516325
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)
|
rs1555705992
|
|
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)
|
rs1057516897
|
|
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)
|
rs1555710357
|
|
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)
|
rs1555710357
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.446del (p.Glu149fs)
|
rs1057516682
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.764-1G>C
|
rs1555709533
|
|
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)
|
rs1555709511
|
|
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)
|
rs1057516972
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)
|
rs1024773388
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-2A>C
|
rs1553784684
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)
|
rs775563122
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1503del (p.Phe501fs)
|
rs1553785139
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)
|
rs1553785152
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)
|
rs1553785169
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.184-2A>G
|
rs1553774015
|
|
NM_000532.5(PCCB):c.196del (p.Ala66fs)
|
rs1553774018
|
|
NM_000532.5(PCCB):c.292_294del (p.Asp98del)
|
rs1307067547
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.373-1243G>A
|
rs1184391176
|
|
NM_000532.5(PCCB):c.373-1271del
|
rs1553774493
|
|
NM_000532.5(PCCB):c.373-1281G>A
|
rs1553774486
|
|
NM_000532.5(PCCB):c.373-1297_373-1295del
|
rs1553774476
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)
|
rs1313783374
|
|
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)
|
rs1553777571
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)
|
rs779033674
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.654+1G>C
|
rs1553777590
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.763+1G>A
|
rs1553778912
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.884+1G>C
|
rs1553779458
|
|
NM_000532.5(PCCB):c.885-2A>G
|
rs1553780163
|
|
NM_000532.5(PCCB):c.966+1G>T
|
rs1385850128
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000535.5(PMS2):c.-101A>G
|
rs587779325
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)
|
rs759192470
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2175-11G>T
|
rs538914402
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2276-2A>C
|
rs1554294019
|
|
NM_000535.7(PMS2):c.23+6C>T
|
rs779104357
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val)
|
rs1554292873
|
|
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys)
|
rs1354323014
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
NM_000535.7(PMS2):c.804-12A>G
|
rs1221537446
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.903+20_903+21del
|
rs746861817
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000543.4:c.777_778ins8
|
|
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)
|
rs1299899778
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del)
|
rs1554933847
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9])
|
rs1554933850
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
NM_000543.5(SMPD1):c.1373del (p.Gly458fs)
|
rs1554935273
|
|
NM_000543.5(SMPD1):c.1379del (p.Thr460fs)
|
rs1554935285
|
|
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del)
|
rs1382534368
|
|
NM_000543.5(SMPD1):c.1486+6_1486+9del
|
rs1389809925
|
|
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)
|
rs1554935439
|
|
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs)
|
rs1057517200
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)
|
rs1554935555
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)
|
rs756031857
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu)
|
rs149939736
|
|
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)
|
rs1057516722
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg)
|
rs1554935731
|
|
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe)
|
rs138531908
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
|
rs1057517086
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)
|
rs1554934210
|
|
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)
|
rs1428487333
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)
|
rs1423504237
|
|
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)
|
rs1554934406
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del)
|
rs1554934457
|
|
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup)
|
rs1554934463
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
|
rs1554933780
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)
|
rs1057517345
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)
|
rs749061599
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.149T>C (p.Ile50Thr)
|
rs370502517
|
|
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
|
rs730882014
|
|
NM_000546.6(TP53):c.283TCT[1] (p.Ser96del)
|
rs878854068
|
|
NM_000546.6(TP53):c.31G>A (p.Glu11Lys)
|
rs201382018
|
|
NM_000546.6(TP53):c.375+17G>A
|
rs765179201
|
|
NM_000546.6(TP53):c.38dup (p.Leu14fs)
|
rs1555527002
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
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.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
NM_000546.6(TP53):c.673-36G>C
|
rs17880604
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.768A>G (p.Thr256=)
|
rs786203563
|
|
NM_000546.6(TP53):c.776A>T (p.Asp259Val)
|
rs745425759
|
|
NM_000546.6(TP53):c.783-13C>G
|
rs1555525373
|
|
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)
|
rs72661119
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
NM_000546.6(TP53):c.993+223T>G
|
rs3021068
|
|
NM_000546.6(TP53):c.993+244G>A
|
rs576532147
|
|
NM_000546.6(TP53):c.993+312_993+314del
|
rs1555524872
|
|
NM_000546.6(TP53):c.993+326_993+341del
|
rs730882013
|
|
NM_000551.4(VHL):c.*7C>G
|
rs778005138
|
|
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)
|
rs587780536
|
|
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.181C>T (p.Pro61Ser)
|
rs113612866
|
|
NM_000551.4(VHL):c.1A>G (p.Met1Val)
|
rs1060503557
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.28G>T (p.Glu10Ter)
|
rs1057519261
|
|
NM_000551.4(VHL):c.345C>T (p.His115=)
|
rs864622646
|
|
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.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.47A>C (p.Glu16Ala)
|
rs864622379
|
|
NM_000551.4(VHL):c.541G>A (p.Val181Ile)
|
rs878854127
|
|
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter)
|
rs1553619313
|
|
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)
|
rs1057517592
|
|
NM_000551.4(VHL):c.91G>T (p.Glu31Ter)
|
rs1214275235
|
|
NM_000642.2(AGL):c.84delG
|
rs1553183148
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)
|
rs1553185418
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
NM_000642.3(AGL):c.1185+1G>A
|
rs1057516948
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.121G>T (p.Gly41Ter)
|
rs1553183178
|
|
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn)
|
rs1553185488
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1391dup (p.Asp465fs)
|
rs786204616
|
|
NM_000642.3(AGL):c.1400del (p.Pro467fs)
|
rs1057516913
|
|
NM_000642.3(AGL):c.140dup (p.Tyr47Ter)
|
rs1057517347
|
|
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer)
|
rs1553185883
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs)
|
rs1057516570
|
|
NM_000642.3(AGL):c.1612-1G>C
|
rs1327892944
|
|
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del)
|
rs1361477641
|
|
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)
|
rs1057516563
|
|
NM_000642.3(AGL):c.1877A>G (p.His626Arg)
|
rs1553186368
|
|
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr)
|
rs1553186370
|
|
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp)
|
rs1553186447
|
|
NM_000642.3(AGL):c.2001+2T>C
|
rs1057516708
|
|
NM_000642.3(AGL):c.2011_2012del (p.Val671fs)
|
rs1057516666
|
|
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs)
|
rs1553186577
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del)
|
rs1553183207
|
|
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)
|
rs1553186613
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del)
|
rs766308910
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2525del (p.Pro842fs)
|
rs1057517425
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
NM_000642.3(AGL):c.2682-2A>G
|
rs1185321132
|
|
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs)
|
rs1553187957
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs)
|
rs1553188559
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-1G>C
|
rs757967016
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+2T>C
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+2dup
|
rs1553188589
|
|
NM_000642.3(AGL):c.2950-1G>A
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del)
|
rs1553188647
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3083+2T>C
|
rs1057516952
|
|
NM_000642.3(AGL):c.3083+5_3083+6del
|
rs781189361
|
|
NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal)
|
rs1553188824
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3363-1G>A
|
rs1057516513
|
|
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)
|
rs1057517079
|
|
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3538del (p.Ser1180fs)
|
rs1553190316
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs)
|
rs1553190751
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3836+1_3836+2dup
|
rs1553192407
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3941_3949+12del
|
rs1553192718
|
|
NM_000642.3(AGL):c.3G>C (p.Met1Ile)
|
rs1553181400
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs)
|
rs1057517405
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)
|
rs1300198233
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.437del (p.Arg146fs)
|
rs1057517344
|
|
NM_000642.3(AGL):c.442del (p.Arg148fs)
|
rs1057516397
|
|
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del)
|
rs1553193523
|
|
NM_000642.3(AGL):c.4481+1G>C
|
rs1553193529
|
|
NM_000642.3(AGL):c.4481+2T>G
|
rs1553193530
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
NM_000642.3(AGL):c.672dup (p.Ser225Ter)
|
rs1057516471
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.82+1547T>C
|
rs1553181605
|
|
NM_000642.3(AGL):c.82+1G>A
|
rs1354714214
|
|
NM_000642.3(AGL):c.83-19del
|
rs1553183146
|
|
NM_000642.3(AGL):c.83-24del
|
rs1553183144
|
|
NM_000642.3(AGL):c.83-29G>T
|
rs767476472
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.958+1G>A
|
rs1553184657
|
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
NM_000709.4(BCKDHA):c.*223T>A
|
rs373164531
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)
|
rs201168715
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)
|
rs756657259
|
|
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)
|
rs1555767305
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)
|
rs1555764014
|
|
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)
|
rs1555766625
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.853+1G>T
|
rs1555767028
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter)
|
rs1555767090
|
|
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)
|
rs1553616443
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-2A>C
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1264-2A>G
|
rs1553616478
|
|
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)
|
rs1553616508
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)
|
rs1400183633
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)
|
rs1553616552
|
|
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)
|
rs1553616555
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
|
rs1446633660
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)
|
rs1553614280
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.539del (p.Glu180fs)
|
rs1553616235
|
|
NM_000784.4(CYP27A1):c.646+1G>C
|
rs79535262
|
|
NM_000784.4(CYP27A1):c.646+2T>C
|
rs1553616253
|
|
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)
|
rs1553616276
|
|
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)
|
rs1188925314
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.845-2A>G
|
rs1553616312
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001017989.3(OPA3):c.221del (p.Gly74fs)
|
rs779350552
|
|
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)
|
rs763348163
|
|
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)
|
rs780614894
|
|
NM_001017989.3(OPA3):c.268_270del (p.Phe90del)
|
rs755084544
|
|
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)
|
rs1225701554
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001017989.3(OPA3):c.380del (p.Gly127fs)
|
rs1555730165
|
|
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)
|
rs1555730159
|
|
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)
|
rs1599947088
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)
|
rs1555730157
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)
|
rs1555730136
|
|
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)
|
rs375580763
|
|
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)
|
rs1555730133
|
|
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs)
|
rs772586292
|
|
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs)
|
rs1481361626
|
|
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs)
|
rs1555439287
|
|
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter)
|
rs1420321324
|
|
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del)
|
rs543667424
|
|
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)
|
rs1206731716
|
|
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)
|
rs1555439013
|
|
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup)
|
rs1468688261
|
|
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)
|
rs538996447
|
|
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
rs118204034
|
|
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)
|
rs1555439049
|
|
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)
|
rs1452984345
|
|
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)
|
rs1555439061
|
|
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)
|
rs1555439063
|
|
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)
|
rs912110093
|
|
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11])
|
rs397507446
|
|
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)
|
rs1555439104
|
|
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])
|
rs771492607
|
|
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9])
|
rs750330966
|
|
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)
|
rs1555439118
|
|
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])
|
rs1555439121
|
|
NM_001039958.2(MESP2):c.640_643del (p.Val214fs)
|
rs1468383573
|
|
NM_001039958.2(MESP2):c.718del (p.Val240fs)
|
rs756232049
|
|
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)
|
rs1555439152
|
|
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del)
|
rs1555439163
|
|
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs)
|
rs1428605825
|
|
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs)
|
rs757634059
|
|
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)
|
rs752665246
|
|
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter)
|
rs1555439250
|
|
NM_001040716.2(PC):c.1-35661G>T
|
rs1555040359
|
|
NM_001040716.2(PC):c.1022+1G>A
|
rs1555025823
|
|
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)
|
rs1057520687
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
NM_001040716.2(PC):c.1225_1227del (p.Asn409del)
|
rs1555023879
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)
|
rs1555015012
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)
|
rs1555014903
|
|
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)
|
rs796052032
|
|
NM_001040716.2(PC):c.2974_2976del (p.Lys992del)
|
rs751225998
|
|
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs)
|
rs1555014332
|
|
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)
|
rs1555014068
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.633+38_633+58del
|
rs1213292231
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.1067dup (p.Val357fs)
|
rs1555467473
|
|
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)
|
rs142456044
|
|
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)
|
rs386833701
|
|
NM_001042432.2(CLN3):c.125+1del
|
rs1555469452
|
|
NM_001042432.2(CLN3):c.195dup (p.Lys66fs)
|
rs1555469159
|
|
NM_001042432.2(CLN3):c.223-1G>A
|
rs1555469089
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs)
|
rs1057517215
|
|
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)
|
rs777625354
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+1G>C
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.461-279_677+384del
|
rs1555468632
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.677+1G>T
|
rs1057517287
|
|
NM_001042432.2(CLN3):c.683dup (p.Leu230fs)
|
rs1057516335
|
|
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)
|
rs796052340
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.791-1G>A
|
rs1057517350
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.962+1G>A
|
rs1057516267
|
|
NM_001042432.2(CLN3):c.963-2A>C
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-63_963-44dup
|
rs1555468153
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)
|
rs144079536
|
|
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)
|
rs1553125766
|
|
NM_001048174.2(MUTYH):c.1193G>T (p.Arg398Leu)
|
rs748700385
|
|
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)
|
rs1553125100
|
|
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met)
|
rs767747402
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.1393-1G>A
|
rs1057517459
|
|
NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met)
|
rs587781385
|
|
NM_001048174.2(MUTYH):c.1435-9T>C
|
rs372815910
|
|
NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu)
|
rs587780080
|
|
NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His)
|
rs147923905
|
|
NM_001048174.2(MUTYH):c.194_199del (p.Val65_Thr66del)
|
rs1553130269
|
|
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)
|
rs1057517460
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.282C>T (p.Asp94=)
|
rs876660505
|
|
NM_001048174.2(MUTYH):c.327G>A (p.Leu109=)
|
rs1057517458
|
|
NM_001048174.2(MUTYH):c.38G>A (p.Arg13Lys)
|
rs587782693
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)
|
rs1553128813
|
|
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)
|
rs761101420
|
|
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)
|
rs786201772
|
|
NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr)
|
rs786204112
|
|
NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg)
|
rs138833473
|
|
NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr)
|
rs587778537
|
|
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)
|
rs587778538
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)
|
rs1057517456
|
|
NM_001079802.2(FKTN):c.*4859A>G
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*4859A>T
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.-181+1G>C
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-1_2del (p.Met1del)
|
rs1180986256
|
|
NM_001079802.2(FKTN):c.106-2A>G
|
rs1554748292
|
|
NM_001079802.2(FKTN):c.1099del (p.Val367fs)
|
rs1554761310
|
|
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)
|
rs773884973
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1173-1G>A
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-1G>C
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-2A>G
|
rs1554766808
|
|
NM_001079802.2(FKTN):c.1201del (p.Trp401fs)
|
rs1554766841
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)
|
rs765934383
|
|
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del)
|
rs1554751112
|
|
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle)
|
rs1554751136
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
NM_001079802.2(FKTN):c.370-2A>G
|
rs1554752805
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)
|
rs1448279636
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)
|
rs1057517160
|
|
NM_001079802.2(FKTN):c.770del (p.Ala257fs)
|
rs1057516966
|
|
NM_001079802.2(FKTN):c.780+1G>A
|
rs370819786
|
|
NM_001079866.2(BCS1L):c.-49-539T>A
|
rs386833855
|
|
NM_001079866.2(BCS1L):c.-50+1G>A
|
rs1553595158
|
|
NM_001079866.2(BCS1L):c.-50+1G>T
|
rs1553595158
|
|
NM_001079866.2(BCS1L):c.-50+2T>G
|
rs1553595166
|
|
NM_001079866.2(BCS1L):c.-53G>T
|
rs886055624
|
|
NM_001079866.2(BCS1L):c.1007+2_1007+5del
|
rs1553597934
|
|
NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del)
|
rs906812769
|
|
NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter)
|
rs1553598145
|
|
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)
|
rs1553598193
|
|
NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs)
|
rs1057516786
|
|
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)
|
rs749196764
|
|
NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)
|
rs1553596345
|
|
NM_001079866.2(BCS1L):c.291_293del (p.Val98del)
|
rs1293818477
|
|
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)
|
rs121908572
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs)
|
rs1553596638
|
|
NM_001079866.2(BCS1L):c.418del (p.Leu140fs)
|
rs1057517412
|
|
NM_001079866.2(BCS1L):c.460+1G>A
|
rs1553596761
|
|
NM_001079866.2(BCS1L):c.460+2T>C
|
rs1057516954
|
|
NM_001079866.2(BCS1L):c.472del (p.Ala158fs)
|
rs1553596929
|
|
NM_001079866.2(BCS1L):c.534del (p.Phe179fs)
|
rs1553596996
|
|
NM_001079866.2(BCS1L):c.53del (p.Ala18fs)
|
rs1553595997
|
|
NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del)
|
rs1553597114
|
|
NM_001079866.2(BCS1L):c.655+1G>A
|
rs1057516802
|
|
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)
|
rs368486097
|
|
NM_001079866.2(BCS1L):c.772del (p.Asp258fs)
|
rs1363475546
|
|
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)
|
rs760559534
|
|
NM_001079866.2(BCS1L):c.889+1G>A
|
rs1057516346
|
|
NM_001079866.2(BCS1L):c.889+2dup
|
rs1553597661
|
|
NM_001079866.2(BCS1L):c.973dup (p.Arg325fs)
|
rs1057516518
|
|
NM_001110219.3(GJB6):c.63del (p.Lys22fs)
|
rs770612890
|
|
NM_001122633.3(CPS1):c.-17T>G
|
rs763703546
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_001126049.2(KLLN):c.-812G>T
|
rs587779981
|
|
NM_001126049.2(KLLN):c.-887C>T
|
rs786204920
|
|
NM_001127510.3(APC):c.1917dup (p.Arg640fs)
|
rs397515732
|
|
NM_001127511.3(APC):c.-14C>T
|
rs1554060248
|
|
NM_001127511.3(APC):c.-5C>A
|
rs972010514
|
|
NM_001127511.3(APC):c.124G>A (p.Gly42Ser)
|
rs1057517582
|
|
NM_001127511.3(APC):c.134G>A (p.Arg45His)
|
rs1004213568
|
|
NM_001127511.3(APC):c.165+17G>T
|
rs1057517556
|
|
NM_001127511.3(APC):c.1A>T (p.Met1Leu)
|
rs189807660
|
|
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)
|
rs55819880
|
|
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)
|
rs200594402
|
|
NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)
|
rs1434668575
|
|
NM_001128227.2(GNE):c.-60_-59delAA
|
rs751222162
|
|
NM_001128227.2(GNE):c.-97T>G
|
rs757093701
|
|
NM_001128227.2(GNE):c.1376delG
|
rs1057516705
|
|
NM_001128227.3(GNE):c.3G>A (p.Met1Ile)
|
rs1554668704
|
|
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys)
|
rs1403279875
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
NM_001128425.2(MUTYH):c.167G>T (p.Gly56Val)
|
rs587781374
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1149+7A>T
|
rs771741504
|
|
NM_001130987.2(DYSF):c.1274_1276+4dup
|
rs768425085
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del)
|
rs1553531818
|
|
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)
|
rs766936914
|
|
NM_001130987.2(DYSF):c.1449+1G>A
|
rs1553535902
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1493+1G>A
|
rs1553536007
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1577-2A>G
|
rs1553542142
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup)
|
rs1326126736
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del)
|
rs1553553762
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.2864+5G>A
|
rs886044131
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.298_300del (p.Ala100del)
|
rs1316197789
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp)
|
rs778316824
|
|
NM_001130987.2(DYSF):c.3086-17G>T
|
rs3764971
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup)
|
rs1553555901
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.3228+8_3228+33del
|
rs1553556251
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup)
|
rs1553361783
|
|
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup)
|
rs779680055
|
|
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del)
|
rs1553361884
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)
|
rs1380642629
|
|
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del)
|
rs1173583014
|
|
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del)
|
rs748683903
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
NM_001130987.2(DYSF):c.3897+1G>A
|
rs1553376691
|
|
NM_001130987.2(DYSF):c.3957+2T>A
|
rs1553377764
|
|
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)
|
rs1553381945
|
|
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)
|
rs778092738
|
|
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)
|
rs1404000468
|
|
NM_001130987.2(DYSF):c.4221+1G>C
|
rs1474151297
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del)
|
rs765090357
|
|
NM_001130987.2(DYSF):c.4387+3_4387+28del
|
rs1553383255
|
|
NM_001130987.2(DYSF):c.4465-1G>A
|
rs1553389041
|
|
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs)
|
rs1553389065
|
|
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs)
|
rs1553389118
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.461-1G>A
|
rs1553520795
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del)
|
rs1553501109
|
|
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)
|
rs1057516051
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del)
|
rs1163037004
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)
|
rs753279446
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5174+6_5174+7dup
|
rs1553412837
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5642+3dup
|
rs1341734203
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)
|
rs1064794020
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6174-2A>G
|
rs1451269647
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)
|
rs1553422723
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])
|
rs749619435
|
|
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del)
|
rs1553422765
|
|
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)
|
rs768820090
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC
|
rs1553521641
|
|
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
|
rs794727851
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)
|
rs1553522104
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)
|
rs1553522164
|
|
NM_001130987.2(DYSF):c.952-2A>G
|
rs1553522730
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
NM_001134793.2(HYLS1):c.145_147del (p.Asp49del)
|
rs1211996582
|
|
NM_001134793.2(HYLS1):c.167_169del (p.Val56del)
|
rs774246149
|
|
NM_001134793.2(HYLS1):c.220_221del (p.Glu74fs)
|
rs1555102458
|
|
NM_001134793.2(HYLS1):c.284_286dup (p.Lys95dup)
|
rs1555102499
|
|
NM_001134793.2(HYLS1):c.459del (p.Lys153fs)
|
rs1555102572
|
|
NM_001134793.2(HYLS1):c.536_544del (p.Ser179_Ala181del)
|
rs1319206829
|
|
NM_001134793.2(HYLS1):c.73_78del (p.Thr25_Ala26del)
|
rs1555102367
|
|
NM_001134793.2(HYLS1):c.851_859del (p.Ala284_Gly286del)
|
rs1555102865
|
|
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del)
|
rs771348153
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|
NM_001142571.2(RAD51D):c.-279_-275del
|
rs761104531
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr)
|
rs1554207076
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)
|
rs1554220416
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup)
|
rs1372494388
|
|
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys)
|
rs766515998
|
|
NM_001142800.2(EYS):c.7229-1G>A
|
rs1554171033
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)
|
rs1554163939
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)
|
rs1165454778
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
NM_001164277.2(SLC37A4):c.*11G>A
|
rs978301169
|
|
NM_001164277.2(SLC37A4):c.*12G>A
|
rs1221264103
|
|
NM_001164277.2(SLC37A4):c.*1AG[2]
|
rs782195068
|
|
NM_001164277.2(SLC37A4):c.*5A>G
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.*5A>T
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.-10C>G
|
rs782655025
|
|
NM_001164277.2(SLC37A4):c.-13G>T
|
rs1555191914
|
|
NM_001164277.2(SLC37A4):c.-15C>T
|
rs1210959942
|
|
NM_001164277.2(SLC37A4):c.-16C>A
|
rs1555191915
|
|
NM_001164277.2(SLC37A4):c.-16C>G
|
rs1555191915
|
|
NM_001164277.2(SLC37A4):c.-2C>T
|
rs1318999121
|
|
NM_001164277.2(SLC37A4):c.-498G>T
|
rs1555192177
|
|
NM_001164277.2(SLC37A4):c.-504G>C
|
rs1045560610
|
|
NM_001164277.2(SLC37A4):c.-506A>G
|
rs1555192180
|
|
NM_001164277.2(SLC37A4):c.-528C>T
|
rs1555192184
|
|
NM_001164277.2(SLC37A4):c.-535G>A
|
rs138523194
|
|
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)
|
rs782726848
|
|
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)
|
rs1555190535
|
|
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)
|
rs1555190525
|
|
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)
|
rs1555190521
|
|
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)
|
rs1555190517
|
|
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)
|
rs1555190513
|
|
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)
|
rs782533083
|
|
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)
|
rs1555190509
|
|
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)
|
rs1210588522
|
|
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)
|
rs1342845276
|
|
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)
|
rs1555190504
|
|
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)
|
rs1555190486
|
|
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)
|
rs1555190480
|
|
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)
|
rs1555190477
|
|
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)
|
rs782182577
|
|
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=)
|
rs1555191843
|
|
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)
|
rs1555190455
|
|
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)
|
rs1555190443
|
|
NM_001164277.2(SLC37A4):c.1124+26C>T
|
rs782811246
|
|
NM_001164277.2(SLC37A4):c.1124+34C>T
|
rs1555190425
|
|
NM_001164277.2(SLC37A4):c.1124+36C>A
|
rs547915912
|
|
NM_001164277.2(SLC37A4):c.1124+38C>G
|
rs1184172656
|
|
NM_001164277.2(SLC37A4):c.1124+38C>T
|
rs1184172656
|
|
NM_001164277.2(SLC37A4):c.1124+4A>G
|
rs1555190440
|
|
NM_001164277.2(SLC37A4):c.1124+51T>C
|
rs1555190420
|
|
NM_001164277.2(SLC37A4):c.1124+55G>A
|
rs1555190418
|
|
NM_001164277.2(SLC37A4):c.1124+57C>T
|
rs1555190417
|
|
NM_001164277.2(SLC37A4):c.1124+7G>A
|
rs1555190438
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
NM_001164277.2(SLC37A4):c.1125-1G>A
|
rs782202675
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
NM_001164277.2(SLC37A4):c.1125-8C>T
|
rs1555190404
|
|
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)
|
rs1555190400
|
|
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)
|
rs1555190399
|
|
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)
|
rs782603818
|
|
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)
|
rs1440498520
|
|
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)
|
rs1464199067
|
|
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)
|
rs1555190395
|
|
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)
|
rs1555190394
|
|
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)
|
rs1555190388
|
|
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)
|
rs1555190381
|
|
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)
|
rs1555190378
|
|
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)
|
rs781818280
|
|
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)
|
rs886047748
|
|
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)
|
rs782470624
|
|
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)
|
rs1555190367
|
|
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)
|
rs1555190359
|
|
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)
|
rs1555190347
|
|
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)
|
rs781849575
|
|
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)
|
rs1438944888
|
|
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)
|
rs782137743
|
|
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)
|
rs1245752008
|
|
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)
|
rs1555191835
|
|
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)
|
rs1555191832
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
NM_001164277.2(SLC37A4):c.149-20A>G
|
rs1555191648
|
|
NM_001164277.2(SLC37A4):c.149-21T>G
|
rs1555191649
|
|
NM_001164277.2(SLC37A4):c.149-22C>T
|
rs369353938
|
|
NM_001164277.2(SLC37A4):c.149-35del
|
rs1555191655
|
|
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)
|
rs1555191904
|
|
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)
|
rs1555191637
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)
|
rs1555191626
|
|
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)
|
rs1555191625
|
|
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)
|
rs1555191604
|
|
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)
|
rs1555191604
|
|
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)
|
rs1555191603
|
|
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)
|
rs782429783
|
|
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)
|
rs1191615872
|
|
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=)
|
rs1555191590
|
|
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)
|
rs193302886
|
|
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)
|
rs1555191582
|
|
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)
|
rs1555191580
|
|
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)
|
rs1555191573
|
|
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)
|
rs782563826
|
|
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=)
|
rs1555191568
|
|
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)
|
rs1555191568
|
|
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)
|
rs561054469
|
|
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)
|
rs1555191550
|
|
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)
|
rs1171686379
|
|
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)
|
rs1356550790
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)
|
rs782188658
|
|
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=)
|
rs1555191533
|
|
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)
|
rs1311198538
|
|
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=)
|
rs1555191522
|
|
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)
|
rs1555191518
|
|
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)
|
rs1555191517
|
|
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)
|
rs1555191512
|
|
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)
|
rs1555191510
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
NM_001164277.2(SLC37A4):c.381+4A>G
|
rs1555191499
|
|
NM_001164277.2(SLC37A4):c.381+8C>T
|
rs782284449
|
|
NM_001164277.2(SLC37A4):c.382-15C>T
|
rs1555191417
|
|
NM_001164277.2(SLC37A4):c.382-19G>T
|
rs1380601197
|
|
NM_001164277.2(SLC37A4):c.382-1del
|
rs1555191406
|
|
NM_001164277.2(SLC37A4):c.382-3C>G
|
rs1555191407
|
|
NM_001164277.2(SLC37A4):c.382-6C>T
|
rs756248657
|
|
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)
|
rs1555191405
|
|
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)
|
rs1555191405
|
|
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)
|
rs1555191401
|
|
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)
|
rs1465764979
|
|
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)
|
rs1555191386
|
|
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)
|
rs1555191378
|
|
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)
|
rs1555191372
|
|
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)
|
rs1555191883
|
|
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)
|
rs1555191353
|
|
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=)
|
rs1555191349
|
|
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=)
|
rs1555191880
|
|
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)
|
rs1395094300
|
|
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)
|
rs1555191879
|
|
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=)
|
rs775227522
|
|
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)
|
rs1555191907
|
|
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)
|
rs1397362093
|
|
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)
|
rs1432294427
|
|
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)
|
rs369409989
|
|
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)
|
rs1555191258
|
|
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=)
|
rs1300746467
|
|
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=)
|
rs891986567
|
|
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)
|
rs1452797070
|
|
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=)
|
rs1555191248
|
|
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)
|
rs1555191237
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)
|
rs1555191231
|
|
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)
|
rs1041686986
|
|
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)
|
rs1555191222
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)
|
rs193302881
|
|
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)
|
rs567419206
|
|
NM_001164277.2(SLC37A4):c.626+10C>A
|
rs757924969
|
|
NM_001164277.2(SLC37A4):c.626+11A>T
|
rs747150144
|
|
NM_001164277.2(SLC37A4):c.626+16G>C
|
rs74673344
|
|
NM_001164277.2(SLC37A4):c.626+30G>A
|
rs1555191200
|
|
NM_001164277.2(SLC37A4):c.626+35C>G
|
rs1555191199
|
|
NM_001164277.2(SLC37A4):c.626+4A>C
|
rs770644132
|
|
NM_001164277.2(SLC37A4):c.626+6C>T
|
rs762685017
|
|
NM_001164277.2(SLC37A4):c.626+7C>T
|
rs1555191207
|
|
NM_001164277.2(SLC37A4):c.627-12T>C
|
rs1555191134
|
|
NM_001164277.2(SLC37A4):c.627-16C>G
|
rs1011663035
|
|
NM_001164277.2(SLC37A4):c.627-3C>T
|
rs1349289897
|
|
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del)
|
rs1555191121
|
|
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=)
|
rs1555191117
|
|
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)
|
rs1555191105
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)
|
rs1555191101
|
|
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)
|
rs782167890
|
|
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=)
|
rs925741468
|
|
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)
|
rs782333619
|
|
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)
|
rs141105181
|
|
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=)
|
rs1223570543
|
|
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)
|
rs781869215
|
|
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
|
rs193302887
|
|
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)
|
rs1555191080
|
|
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)
|
rs1555191079
|
|
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)
|
rs1555191077
|
|
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)
|
rs1555191076
|
|
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)
|
rs782584884
|
|
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=)
|
rs782584884
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)
|
rs1555191060
|
|
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)
|
rs1555191054
|
|
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=)
|
rs1555191052
|
|
NM_001164277.2(SLC37A4):c.785+8G>A
|
rs782075266
|
|
NM_001164277.2(SLC37A4):c.786-18_786-16del
|
rs1555191005
|
|
NM_001164277.2(SLC37A4):c.786-20A>G
|
rs1555191008
|
|
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)
|
rs1029013255
|
|
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)
|
rs1555190992
|
|
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)
|
rs1226267943
|
|
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)
|
rs1350014866
|
|
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)
|
rs1555190956
|
|
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)
|
rs1555190944
|
|
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)
|
rs1555190938
|
|
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=)
|
rs1555190933
|
|
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)
|
rs1555190931
|
|
NM_001164277.2(SLC37A4):c.871+19C>T
|
rs782487764
|
|
NM_001164277.2(SLC37A4):c.871+5G>A
|
rs1250046397
|
|
NM_001164277.2(SLC37A4):c.871+6C>G
|
rs377101167
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
NM_001164277.2(SLC37A4):c.872-12C>T
|
rs200279011
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
NM_001164277.2(SLC37A4):c.872-17C>T
|
rs1286218803
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)
|
rs1320796917
|
|
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)
|
rs1555190769
|
|
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=)
|
rs1555190765
|
|
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)
|
rs1555190764
|
|
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)
|
rs763008231
|
|
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)
|
rs1388277495
|
|
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)
|
rs987244110
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)
|
rs1555190753
|
|
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)
|
rs374287329
|
|
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=)
|
rs1555190749
|
|
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)
|
rs1555190747
|
|
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)
|
rs1555190745
|
|
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=)
|
rs1555190743
|
|
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)
|
rs1555190739
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)
|
rs1335122136
|
|
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)
|
rs1555191854
|
|
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)
|
rs1555190726
|
|
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)
|
rs1555190722
|
|
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=)
|
rs973616226
|
|
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=)
|
rs973616226
|
|
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)
|
rs1168556886
|
|
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)
|
rs1168556886
|
|
NM_001164277.2(SLC37A4):c.985+196del
|
rs1555190657
|
|
NM_001164277.2(SLC37A4):c.985+206C>T
|
rs1555190652
|
|
NM_001164277.2(SLC37A4):c.985+219T>C
|
rs1555190648
|
|
NM_001164277.2(SLC37A4):c.985+234C>T
|
rs1555190642
|
|
NM_001164277.2(SLC37A4):c.985+238dup
|
rs1555190640
|
|
NM_001164277.2(SLC37A4):c.985+241C>G
|
rs1555190639
|
|
NM_001164277.2(SLC37A4):c.985+244T>G
|
rs1555190637
|
|
NM_001164277.2(SLC37A4):c.985+252C>G
|
rs1173737788
|
|
NM_001164277.2(SLC37A4):c.985+259G>A
|
rs1384684015
|
|
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT
|
rs1555190633
|
|
NM_001164277.2(SLC37A4):c.985+278G>A
|
rs781909226
|
|
NM_001164277.2(SLC37A4):c.985+286G>A
|
rs1019246810
|
|
NM_001164277.2(SLC37A4):c.985+288T>G
|
rs1555190624
|
|
NM_001164277.2(SLC37A4):c.985+3A>G
|
rs782121210
|
|
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)
|
rs1555190563
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
NM_001164277.2(SLC37A4):c.986-3_989del
|
rs1555190559
|
|
NM_001164277.2(SLC37A4):c.986-4del
|
rs1555190566
|
|
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)
|
rs1555190553
|
|
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)
|
rs1555190553
|
|
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)
|
rs782443770
|
|
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)
|
rs1555191848
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21358del (p.Leu7120fs)
|
rs1553678967
|
|
NM_001164508.2(NEB):c.10560+1G>A
|
rs1553915731
|
|
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del)
|
rs1553698850
|
|
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del)
|
rs1553911586
|
|
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del)
|
rs773748212
|
|
NM_001164508.2(NEB):c.11181+2T>C
|
rs1553904694
|
|
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln)
|
rs267598922
|
|
NM_001164508.2(NEB):c.11289+1G>C
|
rs1553901249
|
|
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)
|
rs1553898232
|
|
NM_001164508.2(NEB):c.11602-2A>C
|
rs1553891733
|
|
NM_001164508.2(NEB):c.11909_11910+4del
|
rs1553886582
|
|
NM_001164508.2(NEB):c.1366-2A>G
|
rs1553607505
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.1570-2_1574del
|
rs1553603933
|
|
NM_001164508.2(NEB):c.1672_1674+2del
|
rs1057516739
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)
|
rs1553601066
|
|
NM_001164508.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178
|
|
NM_001164508.2(NEB):c.18471+1G>C
|
rs1553769576
|
|
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)
|
rs1553767010
|
|
NM_001164508.2(NEB):c.18694-2del
|
rs1553763404
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del)
|
rs1553762776
|
|
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu)
|
rs267598920
|
|
NM_001164508.2(NEB):c.1897-1G>A
|
rs1553593177
|
|
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19102-31_19102-30del
|
rs774225336
|
|
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs)
|
rs1553757097
|
|
NM_001164508.2(NEB):c.19207-1G>A
|
rs1553755829
|
|
NM_001164508.2(NEB):c.19518GAA[1] (p.Lys6508del)
|
rs1553736221
|
|
NM_001164508.2(NEB):c.19836+1G>T
|
rs1446930968
|
|
NM_001164508.2(NEB):c.20157+2T>C
|
rs1553717306
|
|
NM_001164508.2(NEB):c.20158-1G>C
|
rs1553715579
|
|
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs)
|
rs1553710982
|
|
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)
|
rs760783104
|
|
NM_001164508.2(NEB):c.20467-1G>T
|
rs760082702
|
|
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter)
|
rs1242775893
|
|
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del)
|
rs1553696713
|
|
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn)
|
rs1553696371
|
|
NM_001164508.2(NEB):c.20788-1G>A
|
rs1553695557
|
|
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)
|
rs1553695209
|
|
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter)
|
rs1553694860
|
|
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del)
|
rs770208836
|
|
NM_001164508.2(NEB):c.2106+3A>C
|
rs1553589058
|
|
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs)
|
rs1553688242
|
|
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)
|
rs1553683478
|
|
NM_001164508.2(NEB):c.21312+1G>A
|
rs1553682994
|
|
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del)
|
rs758160111
|
|
NM_001164508.2(NEB):c.21630+1G>A
|
rs1446706909
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.21946-2del
|
rs1553647715
|
|
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=)
|
rs267598918
|
|
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter)
|
rs1553646540
|
|
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del)
|
rs1553646403
|
|
NM_001164508.2(NEB):c.2211+1G>A
|
rs1553586486
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2212-2A>G
|
rs1553580540
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22162-5_22162-2del
|
rs1553644243
|
|
NM_001164508.2(NEB):c.22273-1G>A
|
rs1553642332
|
|
NM_001164508.2(NEB):c.22273-36CT[5]
|
rs751597547
|
|
NM_001164508.2(NEB):c.22273-6_22273-2dup
|
rs758609054
|
|
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del)
|
rs1553641943
|
|
NM_001164508.2(NEB):c.22374+13_22374+33dup
|
rs1553641788
|
|
NM_001164508.2(NEB):c.22479+1del
|
rs1488066635
|
|
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del)
|
rs1553629857
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
NM_001164508.2(NEB):c.22905+2dup
|
rs1553623381
|
|
NM_001164508.2(NEB):c.22906-6_22906-2del
|
rs1014710501
|
|
NM_001164508.2(NEB):c.2310+2T>A
|
rs1553579092
|
|
NM_001164508.2(NEB):c.23128-18del
|
rs1553616477
|
|
NM_001164508.2(NEB):c.23241+2T>A
|
rs1553615846
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr)
|
rs1553603652
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)
|
rs1553603438
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del)
|
rs1553601408
|
|
NM_001164508.2(NEB):c.23638_23640del (p.His7880del)
|
rs1553598770
|
|
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)
|
rs755970391
|
|
NM_001164508.2(NEB):c.23835+1G>A
|
rs781120931
|
|
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del)
|
rs1553576655
|
|
NM_001164508.2(NEB):c.2385del (p.Gln795fs)
|
rs1553568167
|
|
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup)
|
rs764993333
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs)
|
rs1057516938
|
|
NM_001164508.2(NEB):c.23929-1_23930dup
|
rs1427250696
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.23929-7CA[2]
|
rs1217738625
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del)
|
rs1553711235
|
|
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup)
|
rs1553568381
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24022-1_24029del
|
rs1423137705
|
|
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)
|
rs1553561665
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24039del (p.Asn8013fs)
|
rs1553561525
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)
|
rs1553556275
|
|
NM_001164508.2(NEB):c.2415+2dup
|
rs1553567814
|
|
NM_001164508.2(NEB):c.2416-1G>C
|
rs1553565278
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24207+2T>C
|
rs1553555768
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)
|
rs1553551650
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)
|
rs1553548771
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)
|
rs1553548752
|
|
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)
|
rs1332061304
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis)
|
rs1372551649
|
|
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs)
|
rs1553548018
|
|
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)
|
rs767474018
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)
|
rs1553544463
|
|
NM_001164508.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24580-2A>G
|
rs113290650
|
|
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)
|
rs1553536267
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24673-2A>C
|
rs112687345
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24766-9_24767del
|
rs1553530144
|
|
NM_001164508.2(NEB):c.24883_24885del (p.His8295del)
|
rs1553527955
|
|
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del)
|
rs755822172
|
|
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)
|
rs1553526619
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
NM_001164508.2(NEB):c.25151-1G>T
|
rs1553520609
|
|
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del)
|
rs1553520388
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.25297+2del
|
rs1553519860
|
|
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)
|
rs1553519124
|
|
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)
|
rs1553519071
|
|
NM_001164508.2(NEB):c.25404+2T>A
|
rs1553518813
|
|
NM_001164508.2(NEB):c.25405-1G>C
|
rs1553508368
|
|
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)
|
rs1304300842
|
|
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)
|
rs1206080778
|
|
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)
|
rs1211056097
|
|
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)
|
rs776932788
|
|
NM_001164508.2(NEB):c.25544del (p.Gly8515fs)
|
rs1205824305
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer)
|
rs1553557405
|
|
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del)
|
rs766232587
|
|
NM_001164508.2(NEB):c.2944-1G>A
|
rs1553542669
|
|
NM_001164508.2(NEB):c.295-1G>T
|
rs111300270
|
|
NM_001164508.2(NEB):c.3147+1del
|
rs1553539777
|
|
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla)
|
rs1553539039
|
|
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup)
|
rs1553539015
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1del
|
rs1553538835
|
|
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser)
|
rs1225381477
|
|
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073
|
|
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del)
|
rs1553534580
|
|
NM_001164508.2(NEB):c.3567+1G>C
|
rs587780399
|
|
NM_001164508.2(NEB):c.3567+3_3567+6del
|
rs1553534336
|
|
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del)
|
rs1553532187
|
|
NM_001164508.2(NEB):c.37-1G>C
|
rs1428597732
|
|
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)
|
rs1553531184
|
|
NM_001164508.2(NEB):c.3774+2T>C
|
rs1553531049
|
|
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del)
|
rs1553522046
|
|
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537
|
|
NM_001164508.2(NEB):c.3880-1G>T
|
rs1057516381
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.3988-1G>A
|
rs1553517128
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4300-2A>C
|
rs1553512813
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu)
|
rs7426114
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4719+2T>C
|
rs1553501889
|
|
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del)
|
rs760256873
|
|
NM_001164508.2(NEB):c.5031+1G>A
|
rs1553495140
|
|
NM_001164508.2(NEB):c.507+1G>A
|
rs1553689057
|
|
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)
|
rs1553492424
|
|
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107
|
|
NM_001164508.2(NEB):c.5344-1G>A
|
rs1197561990
|
|
NM_001164508.2(NEB):c.5451+2_5451+11del
|
rs1553487838
|
|
NM_001164508.2(NEB):c.5452-2A>G
|
rs1057517317
|
|
NM_001164508.2(NEB):c.54_56dup (p.Val19dup)
|
rs1553702754
|
|
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)
|
rs1553687045
|
|
NM_001164508.2(NEB):c.6075+1G>A
|
rs1553472127
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.613-1G>C
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-2A>G
|
rs752893483
|
|
NM_001164508.2(NEB):c.6183+1G>A
|
rs557870969
|
|
NM_001164508.2(NEB):c.6183+1del
|
rs1553468960
|
|
NM_001164508.2(NEB):c.6183+2T>A
|
rs1553468939
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)
|
rs267598923
|
|
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly)
|
rs1553462412
|
|
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del)
|
rs1209177139
|
|
NM_001164508.2(NEB):c.6808-2A>T
|
rs1553457607
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del)
|
rs1553449735
|
|
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup)
|
rs1553449134
|
|
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435
|
|
NM_001164508.2(NEB):c.7227+2T>C
|
rs1553448527
|
|
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)
|
rs1057516348
|
|
NM_001164508.2(NEB):c.7432-2A>G
|
rs1553990438
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)
|
rs1553983416
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.823-2A>G
|
rs1553642811
|
|
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del)
|
rs1553642771
|
|
NM_001164508.2(NEB):c.8374-1G>A
|
rs1180407562
|
|
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs)
|
rs765403861
|
|
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del)
|
rs764523437
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del)
|
rs1553964000
|
|
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter)
|
rs1553963973
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001164508.2(NEB):c.8994+2T>C
|
rs1553962493
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|
NM_001164508.2(NEB):c.9108del (p.Lys3036fs)
|
rs1553948395
|
|
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter)
|
rs1553947423
|
|
NM_001164508.2(NEB):c.927+1G>A
|
rs374562457
|
|
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)
|
rs193042896
|
|
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=)
|
rs6709886
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter)
|
rs1553939774
|
|
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs)
|
rs1553939660
|
|
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter)
|
rs1553939648
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9485del (p.Val3162fs)
|
rs1553939284
|
|
NM_001164508.2(NEB):c.9576del (p.Glu3193fs)
|
rs1553938571
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
NM_001164508.2(NEB):c.9724-1G>A
|
rs1553934586
|
|
NM_001164508.2(NEB):c.9724-2A>G
|
rs1553934597
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
NM_001164508.2(NEB):c.9831+1G>A
|
rs1553933986
|
|
NM_001164508.2(NEB):c.9943del (p.Asp3315fs)
|
rs1553930053
|
|
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)
|
rs1554972400
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.230-9dup
|
rs1554972934
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)
|
rs1554972406
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)
|
rs1554972964
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG
|
rs1554973024
|
|
NM_001173990.3(TMEM216):c.432-10delinsAA
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-10delinsAC
|
rs1554973021
|
|
NM_001177520.3(ALPL):c.66+353dup
|
rs1553411890
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)
|
rs558080743
|
|
NM_001243182.1(ATP7B):c.-117delinsATCGGC
|
rs1555304632
|
|
NM_001267547.3(ARFRP1):c.*1796A>G
|
rs1555816562
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
NM_001271208.1(NEB):c.23940+17_23940+21del
|
rs768100915
|
|
NM_001271208.1(NEB):c.7651_7656del6
|
rs1553983947
|
|
NM_001283009.2(RTEL1):c.101_102+16dup
|
rs1478655064
|
|
NM_001283009.2(RTEL1):c.102+3AG[3]
|
rs1555899112
|
|
NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del)
|
rs1555811251
|
|
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu)
|
rs786205700
|
|
NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met)
|
rs1163455875
|
|
NM_001283009.2(RTEL1):c.1596-1G>A
|
rs1555811386
|
|
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del)
|
rs779176651
|
|
NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met)
|
rs768910485
|
|
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)
|
rs1177091623
|
|
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)
|
rs1555811742
|
|
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs)
|
rs1263776141
|
|
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg)
|
rs1229240096
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys)
|
rs1555811919
|
|
NM_001283009.2(RTEL1):c.2265+2T>A
|
rs1555811966
|
|
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del)
|
rs1555812033
|
|
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del)
|
rs771771098
|
|
NM_001283009.2(RTEL1):c.2414-2A>G
|
rs1555812178
|
|
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs)
|
rs1555812228
|
|
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)
|
rs752833281
|
|
NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del)
|
rs1555812456
|
|
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)
|
rs1555812473
|
|
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)
|
rs1555812480
|
|
NM_001283009.2(RTEL1):c.2652+5G>A
|
rs1555812507
|
|
NM_001283009.2(RTEL1):c.2653-2A>C
|
rs1555812834
|
|
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup)
|
rs769909059
|
|
NM_001283009.2(RTEL1):c.2851+1G>T
|
rs1421904176
|
|
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs)
|
rs1555813123
|
|
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)
|
rs1555813144
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs)
|
rs1555814044
|
|
NM_001283009.2(RTEL1):c.3110-2A>C
|
rs377461417
|
|
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)
|
rs1415449695
|
|
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)
|
rs1555814334
|
|
NM_001283009.2(RTEL1):c.3344-2A>G
|
rs980695424
|
|
NM_001283009.2(RTEL1):c.347A>G (p.His116Arg)
|
rs746010778
|
|
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del)
|
rs1258943409
|
|
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val)
|
rs1177347580
|
|
NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu)
|
rs1555814729
|
|
NM_001283009.2(RTEL1):c.3786C>T (p.Phe1262=)
|
rs1555814752
|
|
NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val)
|
rs1555814876
|
|
NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr)
|
rs1555814886
|
|
NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del)
|
rs1555899638
|
|
NM_001283009.2(RTEL1):c.396-74A>C
|
rs1555899773
|
|
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)
|
rs1161373315
|
|
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)
|
rs1555901000
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)
|
rs398123019
|
|
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)
|
rs1555901832
|
|
NM_001321075.3(DLG4):c.-27C>T
|
rs1555526472
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
NM_001360.3(DHCR7):c.1004del (p.Pro335fs)
|
rs1555145646
|
|
NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del)
|
rs1555145633
|
|
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)
|
rs1317526744
|
|
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)
|
rs199957106
|
|
NM_001360.3(DHCR7):c.1057del (p.Val353fs)
|
rs759720450
|
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)
|
rs1555145619
|
|
NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)
|
rs1057516517
|
|
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)
|
rs1555145614
|
|
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter)
|
rs1057516493
|
|
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)
|
rs1555145550
|
|
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)
|
rs201270451
|
|
NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter)
|
rs1453500228
|
|
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)
|
rs201150384
|
|
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)
|
rs775034584
|
|
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu)
|
rs1127869
|
|
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)
|
rs1057516977
|
|
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)
|
rs104886041
|
|
NM_001360.3(DHCR7):c.322-2A>G
|
rs1555146618
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.413-1G>A
|
rs1057517307
|
|
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)
|
rs1555146475
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe)
|
rs1223603615
|
|
NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu)
|
rs1555146436
|
|
NM_001360.3(DHCR7):c.626+1G>C
|
rs1471145742
|
|
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser)
|
rs1555146061
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg)
|
rs886044494
|
|
NM_001360.3(DHCR7):c.803del (p.Asn268fs)
|
rs1555146023
|
|
NM_001360.3(DHCR7):c.804del (p.Asn268fs)
|
rs1057516783
|
|
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)
|
rs1555146021
|
|
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter)
|
rs1555145877
|
|
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)
|
rs766495775
|
|
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer)
|
rs1555145874
|
|
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter)
|
rs769639753
|
|
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)
|
rs1555145867
|
|
NM_001360.3(DHCR7):c.934_935del (p.Val312fs)
|
rs1469918162
|
|
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)
|
rs1555145862
|
|
NM_001360.3(DHCR7):c.952del (p.Tyr318fs)
|
rs1555145859
|
|
NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala)
|
rs1362583959
|
|
NM_001360.3(DHCR7):c.963+1G>T
|
rs1057516973
|
|
NM_001360.3(DHCR7):c.963+2T>G
|
rs1057517070
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)
|
rs1173707321
|
|
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter)
|
rs1057516375
|
|
NM_001360.3(DHCR7):c.99-1G>C
|
rs1451108193
|
|
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)
|
rs1057516610
|
|
NM_001360.3(DHCR7):c.995del (p.Leu332fs)
|
rs1057516618
|
|
NM_001365.5(DLG4):c.159+435_159+439del
|
rs1178274476
|
|
NM_001365.5(DLG4):c.159+439_159+444dup
|
rs1258394272
|
|
NM_001365.5(DLG4):c.159+465C>T
|
rs1555526671
|
|
NM_001365.5(DLG4):c.159+472G>A
|
rs1555526667
|
|
NM_001365.5(DLG4):c.159+487G>A
|
rs1237915800
|
|
NM_001365.5(DLG4):c.159+489GCTTCT[3]
|
rs1555526655
|
|
NM_001365088.1(SLC12A6):c.1118+1G>A
|
rs762730861
|
|
NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del)
|
rs1555379651
|
|
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup)
|
rs1342378279
|
|
NM_001365088.1(SLC12A6):c.1650-1G>C
|
rs1555378707
|
|
NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg)
|
rs1555392885
|
|
NM_001365088.1(SLC12A6):c.2162+1G>A
|
rs1555377971
|
|
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter)
|
rs1057516271
|
|
NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs)
|
rs1057516435
|
|
NM_001365088.1(SLC12A6):c.2437-2A>G
|
rs1057516337
|
|
NM_001365088.1(SLC12A6):c.2632+1G>A
|
rs1057516925
|
|
NM_001365088.1(SLC12A6):c.2633-1G>A
|
rs1555377252
|
|
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del)
|
rs1555377235
|
|
NM_001365088.1(SLC12A6):c.271+17732A>C
|
rs781478530
|
|
NM_001365088.1(SLC12A6):c.271+17808T>G
|
rs137998688
|
|
NM_001365088.1(SLC12A6):c.2803-1G>C
|
rs1057516378
|
|
NM_001365088.1(SLC12A6):c.2803-1G>T
|
rs1057516378
|
|
NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs)
|
rs1555384171
|
|
NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs)
|
rs1057517334
|
|
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)
|
rs573444140
|
|
NM_001365088.1(SLC12A6):c.298del (p.Glu100fs)
|
rs1555384169
|
|
NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter)
|
rs1555376818
|
|
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs)
|
rs1057517289
|
|
NM_001365088.1(SLC12A6):c.3227+1G>A
|
rs1057516969
|
|
NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs)
|
rs1057516752
|
|
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)
|
rs768514327
|
|
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter)
|
rs1555376688
|
|
NM_001365088.1(SLC12A6):c.3361+2T>G
|
rs1555376682
|
|
NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser)
|
rs1555376519
|
|
NM_001365088.1(SLC12A6):c.543+2T>G
|
rs1555381538
|
|
NM_001365088.1(SLC12A6):c.543+6G>T
|
rs886051055
|
|
NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs)
|
rs1057517109
|
|
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)
|
rs775111365
|
|
NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter)
|
rs1057516898
|
|
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)
|
rs1057516456
|
|
NM_001365088.1(SLC12A6):c.745+2T>A
|
rs1555380998
|
|
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)
|
rs35583475
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)
|
rs1555164218
|
|
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)
|
rs760612966
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.250-1G>T
|
rs1553653053
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)
|
rs397514362
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_001378454.1(ALMS1):c.-12C>G
|
rs1553396082
|
|
NM_001378454.1(ALMS1):c.-1C>T
|
rs756956183
|
|
NM_001378454.1(ALMS1):c.-7C>T
|
rs1296403299
|
|
NM_001378454.1(ALMS1):c.-8dup
|
rs1553396085
|
|
NM_001378454.1(ALMS1):c.-9G>A
|
rs1553396083
|
|
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs)
|
rs1553416233
|
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
NM_001378454.1(ALMS1):c.10079-1G>C
|
rs1361885101
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn)
|
rs751123703
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp)
|
rs1045473444
|
|
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro)
|
rs145678202
|
|
NM_001378454.1(ALMS1):c.10213+17G>C
|
rs1553416885
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
NM_001378454.1(ALMS1):c.10213+3A>G
|
rs1553416881
|
|
NM_001378454.1(ALMS1):c.10214-11C>G
|
rs1365430683
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs)
|
rs1553417044
|
|
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg)
|
rs139425340
|
|
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser)
|
rs267599448
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
|
rs767799669
|
|
NM_001378454.1(ALMS1):c.10384+1G>A
|
rs766366221
|
|
NM_001378454.1(ALMS1):c.10384+2dup
|
rs1255846889
|
|
NM_001378454.1(ALMS1):c.10384+5T>C
|
rs758235228
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=)
|
rs1553400737
|
|
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup)
|
rs1553418413
|
|
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg)
|
rs1553418430
|
|
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs)
|
rs1220975714
|
|
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs)
|
rs1553418449
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer)
|
rs1553418457
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs)
|
rs1553418505
|
|
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)
|
rs755616266
|
|
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs)
|
rs1553418512
|
|
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)
|
rs1553418513
|
|
NM_001378454.1(ALMS1):c.10860G>A (p.Arg3620=)
|
rs373682259
|
|
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)
|
rs1553396092
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr)
|
rs1553418562
|
|
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr)
|
rs878854995
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
NM_001378454.1(ALMS1):c.11547+12C>A
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+12C>T
|
rs755559102
|
|
NM_001378454.1(ALMS1):c.11547+1G>A
|
rs1553418638
|
|
NM_001378454.1(ALMS1):c.11547+5A>C
|
rs1181494101
|
|
NM_001378454.1(ALMS1):c.11547+7G>C
|
rs1553418641
|
|
NM_001378454.1(ALMS1):c.11548-19A>T
|
rs760271173
|
|
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs)
|
rs1553421488
|
|
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup)
|
rs1468861836
|
|
NM_001378454.1(ALMS1):c.11668+12A>G
|
rs1553421500
|
|
NM_001378454.1(ALMS1):c.11668+6T>G
|
rs1553421499
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
NM_001378454.1(ALMS1):c.11669-3C>T
|
rs767901840
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del)
|
rs1553421645
|
|
NM_001378454.1(ALMS1):c.11778T>C (p.Thr3926=)
|
rs368160921
|
|
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=)
|
rs765376715
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11872+12A>G
|
rs193922691
|
|
NM_001378454.1(ALMS1):c.11872+2T>A
|
rs1553421657
|
|
NM_001378454.1(ALMS1):c.11872+9C>G
|
rs768886966
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
NM_001378454.1(ALMS1):c.11873-4G>A
|
rs1553421697
|
|
NM_001378454.1(ALMS1):c.11873-7C>T
|
rs1553421696
|
|
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs)
|
rs1553400778
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg)
|
rs372747251
|
|
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)
|
rs370981817
|
|
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)
|
rs1553421739
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del)
|
rs1245181381
|
|
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs)
|
rs1553421752
|
|
NM_001378454.1(ALMS1):c.12114+14G>T
|
rs1057524070
|
|
NM_001378454.1(ALMS1):c.12114+19A>G
|
rs760374917
|
|
NM_001378454.1(ALMS1):c.12114+19A>T
|
rs760374917
|
|
NM_001378454.1(ALMS1):c.12114+1G>T
|
rs376719320
|
|
NM_001378454.1(ALMS1):c.12114+3_12114+12del
|
rs1348254028
|
|
NM_001378454.1(ALMS1):c.12115-8T>C
|
rs78455676
|
|
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)
|
rs1553421877
|
|
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs)
|
rs1553421886
|
|
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His)
|
rs878854996
|
|
NM_001378454.1(ALMS1):c.12298+19C>T
|
rs1553421935
|
|
NM_001378454.1(ALMS1):c.12299-14C>T
|
rs1352077204
|
|
NM_001378454.1(ALMS1):c.12299-15T>C
|
rs1553422033
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
NM_001378454.1(ALMS1):c.12299-1G>A
|
rs1313101326
|
|
NM_001378454.1(ALMS1):c.12299-3T>C
|
rs1553422034
|
|
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs)
|
rs764503373
|
|
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs)
|
rs1553422035
|
|
NM_001378454.1(ALMS1):c.12362+16C>G
|
rs1553422061
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
NM_001378454.1(ALMS1):c.1237+14T>C
|
rs1482335275
|
|
NM_001378454.1(ALMS1):c.1237+2T>C
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.1237+9C>T
|
rs201471551
|
|
NM_001378454.1(ALMS1):c.1238-11C>G
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.1238-11C>T
|
rs1553400951
|
|
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs)
|
rs1553422659
|
|
NM_001378454.1(ALMS1):c.12462+12C>T
|
rs1553422680
|
|
NM_001378454.1(ALMS1):c.12462+12_12462+18del
|
rs1374364094
|
|
NM_001378454.1(ALMS1):c.12462+19T>C
|
rs1309452497
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.12462+3C>T
|
rs1553422676
|
|
NM_001378454.1(ALMS1):c.12462+5G>A
|
rs1553422678
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
NM_001378454.1(ALMS1):c.12463-11_12463-7del
|
rs1553422758
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs)
|
rs1553400956
|
|
NM_001378454.1(ALMS1):c.1338+11A>G
|
rs1553400967
|
|
NM_001378454.1(ALMS1):c.1338+20T>A
|
rs1466354765
|
|
NM_001378454.1(ALMS1):c.1339-20C>T
|
rs1553401589
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-5A>T
|
rs373469023
|
|
NM_001378454.1(ALMS1):c.1339-6C>T
|
rs1553401597
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
NM_001378454.1(ALMS1):c.137_139del (p.Val46del)
|
rs1553396198
|
|
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3])
|
rs1286794312
|
|
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del)
|
rs1553401631
|
|
NM_001378454.1(ALMS1):c.1432+12A>G
|
rs1553401640
|
|
NM_001378454.1(ALMS1):c.1432+14G>A
|
rs1204922039
|
|
NM_001378454.1(ALMS1):c.1432+16A>G
|
rs1553401642
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.1433-14C>A
|
rs1553403232
|
|
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs)
|
rs1553403262
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs)
|
rs1553396238
|
|
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala)
|
rs28730850
|
|
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del)
|
rs1553396088
|
|
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet)
|
rs1553396244
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs)
|
rs1553403401
|
|
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro)
|
rs1248095655
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del)
|
rs1553403420
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs)
|
rs1457500348
|
|
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=)
|
rs368947491
|
|
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro)
|
rs1181372708
|
|
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys)
|
rs374262388
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs)
|
rs1553403560
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala)
|
rs374139959
|
|
NM_001378454.1(ALMS1):c.284dup (p.His96fs)
|
rs1553396293
|
|
NM_001378454.1(ALMS1):c.2880A>G (p.Lys960=)
|
rs1238528749
|
|
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=)
|
rs751486678
|
|
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)
|
rs1553396296
|
|
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)
|
rs1553396091
|
|
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
|
rs1039388814
|
|
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs)
|
rs1553403598
|
|
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn)
|
rs748646844
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.324+12C>T
|
rs1553396311
|
|
NM_001378454.1(ALMS1):c.324+14G>A
|
rs1553396313
|
|
NM_001378454.1(ALMS1):c.324+16G>C
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+16G>T
|
rs1276086207
|
|
NM_001378454.1(ALMS1):c.324+18G>A
|
rs1553396316
|
|
NM_001378454.1(ALMS1):c.324+4A>G
|
rs1553396304
|
|
NM_001378454.1(ALMS1):c.324+7C>G
|
rs1230102179
|
|
NM_001378454.1(ALMS1):c.325-15_325-13del
|
rs1553398832
|
|
NM_001378454.1(ALMS1):c.325-1G>A
|
rs764337753
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs)
|
rs1553396098
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser)
|
rs1164554577
|
|
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs)
|
rs1553403685
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln)
|
rs1553398843
|
|
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)
|
rs760942576
|
|
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del)
|
rs954466797
|
|
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=)
|
rs1553403752
|
|
NM_001378454.1(ALMS1):c.3828T>C (p.Thr1276=)
|
rs1553403755
|
|
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs)
|
rs1553403762
|
|
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del)
|
rs775132874
|
|
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser)
|
rs1553403796
|
|
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr)
|
rs1228297685
|
|
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile)
|
rs1553403843
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)
|
rs771362238
|
|
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs)
|
rs1553403864
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly)
|
rs778948871
|
|
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu)
|
rs1553396123
|
|
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs)
|
rs1553403882
|
|
NM_001378454.1(ALMS1):c.450+11T>G
|
rs763724672
|
|
NM_001378454.1(ALMS1):c.450+12G>A
|
rs1553398856
|
|
NM_001378454.1(ALMS1):c.450+19G>A
|
rs1553398858
|
|
NM_001378454.1(ALMS1):c.450+22_450+25del
|
rs764559198
|
|
NM_001378454.1(ALMS1):c.450+24_450+40del
|
rs1553398860
|
|
NM_001378454.1(ALMS1):c.451-12A>G
|
rs1274254541
|
|
NM_001378454.1(ALMS1):c.451-16T>C
|
rs1553399953
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln)
|
rs148568833
|
|
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)
|
rs779366889
|
|
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs)
|
rs1553403989
|
|
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.5176C>T (p.Leu1726=)
|
rs373864798
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs)
|
rs1553404028
|
|
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del)
|
rs1553404031
|
|
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=)
|
rs1553396127
|
|
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu)
|
rs1553396125
|
|
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs)
|
rs1553404066
|
|
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)
|
rs374046216
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys)
|
rs375354717
|
|
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)
|
rs939208094
|
|
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs)
|
rs1057517445
|
|
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)
|
rs1553404109
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)
|
rs374676136
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val)
|
rs140062566
|
|
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs)
|
rs1553404150
|
|
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly)
|
rs1464393698
|
|
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs)
|
rs1553404156
|
|
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del)
|
rs1060500042
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del)
|
rs1553399981
|
|
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly)
|
rs376120513
|
|
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln)
|
rs1553396137
|
|
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser)
|
rs369011755
|
|
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro)
|
rs1382952433
|
|
NM_001378454.1(ALMS1):c.6216A>G (p.Leu2072=)
|
rs754288227
|
|
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys)
|
rs905301935
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.646+10G>A
|
rs1553399998
|
|
NM_001378454.1(ALMS1):c.646+4A>T
|
rs1270489328
|
|
NM_001378454.1(ALMS1):c.646+5T>C
|
rs1235104737
|
|
NM_001378454.1(ALMS1):c.646+8C>T
|
rs760012033
|
|
NM_001378454.1(ALMS1):c.647-19_647-18insT
|
rs1553400422
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal)
|
rs1553396144
|
|
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=)
|
rs1553404267
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs)
|
rs1553404277
|
|
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)
|
rs1553404283
|
|
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs)
|
rs1553404305
|
|
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu)
|
rs1553396142
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val)
|
rs142904692
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs)
|
rs1553404368
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs)
|
rs1553400437
|
|
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)
|
rs1006328829
|
|
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val)
|
rs771422712
|
|
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys)
|
rs373004988
|
|
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser)
|
rs148306148
|
|
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys)
|
rs1553396155
|
|
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs)
|
rs1553404457
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs)
|
rs1553404473
|
|
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs)
|
rs1217507627
|
|
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp)
|
rs1491479006
|
|
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys)
|
rs1574423810
|
|
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla)
|
rs1553396120
|
|
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn)
|
rs757932553
|
|
NM_001378454.1(ALMS1):c.7540+11A>G
|
rs1553404509
|
|
NM_001378454.1(ALMS1):c.7540+14T>G
|
rs533780922
|
|
NM_001378454.1(ALMS1):c.7540+20C>A
|
rs1410444926
|
|
NM_001378454.1(ALMS1):c.7541-17G>C
|
rs758134188
|
|
NM_001378454.1(ALMS1):c.7541-19G>A
|
rs1553404624
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
NM_001378454.1(ALMS1):c.7541-8C>A
|
rs1553404629
|
|
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup)
|
rs1553396161
|
|
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val)
|
rs200155429
|
|
NM_001378454.1(ALMS1):c.764+3A>G
|
rs772334395
|
|
NM_001378454.1(ALMS1):c.764+9A>T
|
rs551013858
|
|
NM_001378454.1(ALMS1):c.765-13TA[2]
|
rs1553400662
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
NM_001378454.1(ALMS1):c.7653A>T (p.Gly2551=)
|
rs1553404658
|
|
NM_001378454.1(ALMS1):c.7674+10A>G
|
rs1553404676
|
|
NM_001378454.1(ALMS1):c.7674+3A>G
|
rs1553404673
|
|
NM_001378454.1(ALMS1):c.7674+5A>G
|
rs756532322
|
|
NM_001378454.1(ALMS1):c.7675-7C>T
|
rs1553409573
|
|
NM_001378454.1(ALMS1):c.7675-8T>A
|
rs1553409572
|
|
NM_001378454.1(ALMS1):c.769del (p.Ile257fs)
|
rs1553400675
|
|
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=)
|
rs1553409598
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln)
|
rs940478567
|
|
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr)
|
rs201426207
|
|
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)
|
rs1553409656
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del)
|
rs1553409676
|
|
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
|
|
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln)
|
rs1553409698
|
|
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del)
|
rs770459045
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del)
|
rs1553409711
|
|
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)
|
rs1553409715
|
|
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del)
|
rs1553409754
|
|
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del)
|
rs777935409
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del)
|
rs1553409775
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)
|
rs1553409778
|
|
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=)
|
rs371736476
|
|
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del)
|
rs1553409817
|
|
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)
|
rs973057702
|
|
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)
|
rs759799299
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup)
|
rs1455775922
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs)
|
rs1553400709
|
|
NM_001378454.1(ALMS1):c.9539+10A>G
|
rs1553409904
|
|
NM_001378454.1(ALMS1):c.9539+13G>C
|
rs369860432
|
|
NM_001378454.1(ALMS1):c.9539+1G>T
|
rs1553409901
|
|
NM_001378454.1(ALMS1):c.9539+20C>T
|
rs759559244
|
|
NM_001378454.1(ALMS1):c.9540-15C>A
|
rs780375594
|
|
NM_001378454.1(ALMS1):c.9540-16del
|
rs765235024
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del)
|
rs1553412739
|
|
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del)
|
rs762803723
|
|
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro)
|
rs766127195
|
|
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs)
|
rs1553412797
|
|
NM_001378454.1(ALMS1):c.9781+11G>A
|
rs970258030
|
|
NM_001378454.1(ALMS1):c.9781+19A>C
|
rs895296631
|
|
NM_001378454.1(ALMS1):c.9781+5G>C
|
rs1553412803
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_001378454.1(ALMS1):c.9782-18T>C
|
rs995894081
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
|
|
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs)
|
rs1553414071
|
|
NM_001378454.1(ALMS1):c.988C>T (p.Leu330=)
|
rs187880759
|
|
NM_001378454.1(ALMS1):c.9907+17A>G
|
rs772675597
|
|
NM_001378454.1(ALMS1):c.9907+20C>A
|
rs74730457
|
|
NM_001378454.1(ALMS1):c.9907+5T>G
|
rs1553414096
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
NM_001378454.1(ALMS1):c.9908-6C>G
|
rs1553416191
|
|
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala)
|
rs1553416202
|
|
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del)
|
rs1555135527
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.157+1G>C
|
rs1057516770
|
|
NM_001384140.1(PCDH15):c.158-16930T>C
|
rs207470941
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del)
|
rs1554852410
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro)
|
rs1554827269
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3983+2dup
|
rs1554827124
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup)
|
rs1554824158
|
|
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del)
|
rs1394411772
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs)
|
rs1554824058
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del)
|
rs1296979751
|
|
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup)
|
rs1554822754
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT
|
rs1554819686
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4368-3205G>A
|
rs776152870
|
|
NM_001384140.1(PCDH15):c.4368-3205del
|
rs1554821197
|
|
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys)
|
rs1554816509
|
|
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr)
|
rs1554816211
|
|
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu)
|
rs1554816210
|
|
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)
|
rs1554816196
|
|
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del)
|
rs1554816165
|
|
NM_001384140.1(PCDH15):c.4671+1009G>A
|
rs1554815909
|
|
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del
|
rs1588876049
|
|
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del
|
rs1554815781
|
|
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup
|
rs1343032451
|
|
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup
|
rs1588874677
|
|
NM_001384140.1(PCDH15):c.4671+1403GAG[5]
|
rs1272584101
|
|
NM_001384140.1(PCDH15):c.4671+1412G>T
|
rs1467453189
|
|
NM_001384140.1(PCDH15):c.4671+1420del
|
rs778088114
|
|
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del
|
rs1554815654
|
|
NM_001384140.1(PCDH15):c.4671+1550C>T
|
rs765589050
|
|
NM_001384140.1(PCDH15):c.4671+1577GAA[3]
|
rs774006219
|
|
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del
|
rs769671738
|
|
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup
|
rs1554815534
|
|
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup
|
rs1554815468
|
|
NM_001384140.1(PCDH15):c.4672-1662del
|
rs1554815484
|
|
NM_001384140.1(PCDH15):c.4672-1666G>T
|
rs1297423576
|
|
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup
|
rs1554815527
|
|
NM_001384140.1(PCDH15):c.4672-2A>G
|
rs1554814991
|
|
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs)
|
rs1589057333
|
|
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs)
|
rs778963761
|
|
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup)
|
rs1554814938
|
|
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs)
|
rs1554814927
|
|
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs)
|
rs750833316
|
|
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs)
|
rs757520086
|
|
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs)
|
rs1554814800
|
|
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)
|
rs1554814729
|
|
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs)
|
rs1554814684
|
|
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs)
|
rs1320916581
|
|
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter)
|
rs1554814683
|
|
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs)
|
rs1554814669
|
|
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)
|
rs1554814635
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+2_705+3insTT
|
rs1554903836
|
|
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr)
|
rs1283739647
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.92-515T>G
|
rs1283842168
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp)
|
rs112463030
|
|
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)
|
rs376539851
|
|
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)
|
rs142960762
|
|
NM_001384474.1(LOXHD1):c.4096-1G>C
|
rs749861944
|
|
NM_001386140.1(MTTP):c.1558-2A>G
|
rs1553927840
|
|
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu)
|
rs544337438
|
|
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)
|
rs1553419751
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro)
|
rs782461130
|
|
NM_001875.5(CPS1):c.-3delinsTTCC
|
rs1553507151
|
|
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)
|
rs1553511264
|
|
NM_001875.5(CPS1):c.1086+1G>A
|
rs1553511326
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.126+1G>A
|
rs1553507183
|
|
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)
|
rs1553511794
|
|
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)
|
rs1553512225
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)
|
rs1553512962
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2193-1G>T
|
rs1553513387
|
|
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)
|
rs781088670
|
|
NM_001875.5(CPS1):c.236+1G>T
|
rs1553509023
|
|
NM_001875.5(CPS1):c.2391+1G>A
|
rs1553513433
|
|
NM_001875.5(CPS1):c.2392-1G>T
|
rs755882799
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)
|
rs1553513861
|
|
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)
|
rs1553513864
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg)
|
rs1553513870
|
|
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)
|
rs1486364626
|
|
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)
|
rs763006780
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
NM_001875.5(CPS1):c.301del (p.Ile101fs)
|
rs1553509303
|
|
NM_001875.5(CPS1):c.3141+1G>A
|
rs1553516660
|
|
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)
|
rs1553517122
|
|
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)
|
rs1553517224
|
|
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)
|
rs1553517387
|
|
NM_001875.5(CPS1):c.3558_3558+1dup
|
rs1553517670
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
NM_001875.5(CPS1):c.3G>T (p.Met1Ile)
|
rs1553507155
|
|
NM_001875.5(CPS1):c.4002+2T>A
|
rs1553518395
|
|
NM_001875.5(CPS1):c.4003-1G>C
|
rs1553518720
|
|
NM_001875.5(CPS1):c.4003-2A>T
|
rs1553518719
|
|
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)
|
rs1553518726
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4102-559G>C
|
rs529803364
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)
|
rs1553509661
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
NM_001875.5(CPS1):c.711+1G>C
|
rs1553510520
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)
|
rs756021170
|
|
NM_001875.5(CPS1):c.798del (p.Asn267fs)
|
rs1553510944
|
|
NM_001875.5(CPS1):c.840_840+5dup
|
rs1273243029
|
|
NM_001876.4(CPT1A):c.1163+2T>C
|
rs1555229059
|
|
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)
|
rs747376723
|
|
NM_001876.4(CPT1A):c.1298del (p.Asp433fs)
|
rs1057516304
|
|
NM_001876.4(CPT1A):c.1348_1352+4del
|
rs1555228640
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
NM_001876.4(CPT1A):c.1458+1G>A
|
rs1555228470
|
|
NM_001876.4(CPT1A):c.1459-1G>A
|
rs1057517046
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.1575+1G>A
|
rs1282293820
|
|
NM_001876.4(CPT1A):c.1576-2A>G
|
rs1555227607
|
|
NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter)
|
rs1057516586
|
|
NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter)
|
rs1057516434
|
|
NM_001876.4(CPT1A):c.1875+10_1875+33del
|
rs1555226542
|
|
NM_001876.4(CPT1A):c.1876-1G>A
|
rs80356798
|
|
NM_001876.4(CPT1A):c.1876-1G>C
|
rs80356798
|
|
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del)
|
rs1555232255
|
|
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)
|
rs1057516800
|
|
NM_001876.4(CPT1A):c.2028+2T>G
|
rs1555226417
|
|
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)
|
rs765161206
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
NM_001876.4(CPT1A):c.2236-1G>A
|
rs1555226004
|
|
NM_001876.4(CPT1A):c.282-1G>A
|
rs1057517188
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
NM_001876.4(CPT1A):c.693+1G>C
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.693+1G>T
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.694-2A>G
|
rs1555230518
|
|
NM_001876.4(CPT1A):c.771+1G>C
|
rs1555230494
|
|
NM_001876.4(CPT1A):c.772-1G>A
|
rs1555230326
|
|
NM_001876.4(CPT1A):c.772-2A>G
|
rs1057517245
|
|
NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter)
|
rs1057516396
|
|
NM_001876.4(CPT1A):c.967+1G>A
|
rs112498048
|
|
NM_001876.4(CPT1A):c.967+2T>C
|
rs1224226554
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)
|
rs1553229661
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1282-5_1282-2del
|
rs1553228653
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)
|
rs398123661
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer)
|
rs1553233152
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.258_277del (p.Lys87fs)
|
rs1553232197
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.360dup (p.Leu121fs)
|
rs398123668
|
|
NM_001918.5(DBT):c.434-1G>A
|
rs754004231
|
|
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)
|
rs761922057
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
NM_001918.5(DBT):c.52-48_52-45delinsTAC
|
rs1553233176
|
|
NM_001918.5(DBT):c.555+1G>A
|
rs1553231037
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.641_643del (p.Gly214del)
|
rs1553230840
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001953.5(TYMP):c.1308dup (p.Trp437fs)
|
rs1471478620
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|
|
NM_002435.3(MPI):c.-1_3del (p.Met1fs)
|
rs1555478015
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1053+6_1053+9del
|
rs1279545559
|
|
NM_002435.3(MPI):c.1054-34_1054-11del
|
rs1555479532
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.120del (p.Ile40fs)
|
rs1057516466
|
|
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)
|
rs1555479632
|
|
NM_002435.3(MPI):c.145-1G>A
|
rs1057516573
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.345+1G>A
|
rs1555478333
|
|
NM_002435.3(MPI):c.488-1G>A
|
rs759579169
|
|
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)
|
rs1555478582
|
|
NM_002435.3(MPI):c.629del (p.Val210fs)
|
rs1555478606
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.740del (p.Gly247fs)
|
rs1057517115
|
|
NM_002435.3(MPI):c.802_803del (p.Met268fs)
|
rs1555479227
|
|
NM_002435.3(MPI):c.844+1G>A
|
rs1394866894
|
|
NM_002435.3(MPI):c.845-2del
|
rs1555479341
|
|
NM_002435.3(MPI):c.880dup (p.Val294fs)
|
rs1555479351
|
|
NM_002435.3(MPI):c.89_113del (p.Leu30fs)
|
rs1555478118
|
|
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)
|
rs1555479384
|
|
NM_002435.3(MPI):c.991del (p.Glu331fs)
|
rs1555479423
|
|
NM_002485.5(NBN):c.*364_*393del
|
rs1554553737
|
|
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del)
|
rs770500095
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del)
|
rs1425019959
|
|
NM_002485.5(NBN):c.1124+1G>A
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
NM_002485.5(NBN):c.1125-1G>A
|
rs1057517102
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)
|
rs104895033
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1520A>G (p.His507Arg)
|
rs587782520
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.172-529G>A
|
rs104895039
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del)
|
rs1554558265
|
|
NM_002485.5(NBN):c.178dup (p.Thr60fs)
|
rs1057516392
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-5_1846-2dup
|
rs1554556962
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.190C>T (p.Pro64Ser)
|
rs267602038
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del)
|
rs1554556498
|
|
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)
|
rs1057516869
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro)
|
rs1554568352
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)
|
rs1554554251
|
|
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)
|
rs756831345
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2219C>T (p.Ala740Val)
|
rs1554554240
|
|
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)
|
rs876659551
|
|
NM_002485.5(NBN):c.2235-12C>T
|
rs1554553904
|
|
NM_002485.5(NBN):c.2235-2A>G
|
rs767094704
|
|
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)
|
rs193921030
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
NM_002485.5(NBN):c.37+6G>T
|
rs540868733
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)
|
rs1554567960
|
|
NM_002485.5(NBN):c.432del (p.Glu145fs)
|
rs1554567902
|
|
NM_002485.5(NBN):c.480+10A>G
|
rs878854512
|
|
NM_002485.5(NBN):c.531del (p.Phe177fs)
|
rs1057516787
|
|
NM_002485.5(NBN):c.585-1G>A
|
rs1394578008
|
|
NM_002485.5(NBN):c.590dup (p.Tyr197Ter)
|
rs1554564309
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+7A>G
|
rs864622602
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.872A>G (p.Gln291Arg)
|
rs587778547
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.995-2A>C
|
rs876659521
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002529.4(NTRK1):c.1196-1G>A
|
rs764171953
|
|
NM_002617.4(PEX10):c.20del (p.Ser7fs)
|
rs1553232926
|
|
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys)
|
rs1291325133
|
|
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg)
|
rs766966222
|
|
NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.600+1del
|
rs1553232077
|
|
NM_002617.4(PEX10):c.601-24_601-23del
|
rs1553231875
|
|
NM_002617.4(PEX10):c.601-26_601-25delinsCTC
|
rs1553231888
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)
|
rs768893724
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
NM_002617.4(PEX10):c.776+2T>A
|
rs1335685844
|
|
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)
|
rs769251149
|
|
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
|
NM_002617.4(PEX10):c.815del (p.Leu272fs)
|
rs1553231783
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup)
|
rs1553231765
|
|
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)
|
rs1438047457
|
|
NM_002617.4(PEX10):c.912+1G>A
|
rs1553231739
|
|
NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
|
NM_002617.4(PEX10):c.952_954del (p.Lys318del)
|
rs1553231582
|
|
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)
|
rs1358135448
|
|
NM_002691.4(POLD1):c.-1-2A>C
|
rs1254845405
|
|
NM_002691.4(POLD1):c.1138-14G>A
|
rs200111674
|
|
NM_002691.4(POLD1):c.1171dup (p.Asp391fs)
|
rs1555790567
|
|
NM_002691.4(POLD1):c.1225C>T (p.Arg409Trp)
|
rs778135510
|
|
NM_002691.4(POLD1):c.1242+18G>A
|
rs1057517580
|
|
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del)
|
rs1300269779
|
|
NM_002691.4(POLD1):c.1371G>T (p.Met457Ile)
|
rs1457008478
|
|
NM_002691.4(POLD1):c.1384-13C>G
|
rs536467012
|
|
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)
|
rs587777627
|
|
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)
|
rs397514632
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
NM_002691.4(POLD1):c.151CAGGAG[1] (p.51QE[1])
|
rs760207160
|
|
NM_002691.4(POLD1):c.1686+15C>T
|
rs1057517619
|
|
NM_002691.4(POLD1):c.1687-7C>T
|
rs1332104657
|
|
NM_002691.4(POLD1):c.1773dup (p.Gly592fs)
|
rs1555791532
|
|
NM_002691.4(POLD1):c.1775+7C>T
|
rs1057517591
|
|
NM_002691.4(POLD1):c.1776-83del
|
rs751745933
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002691.4(POLD1):c.2155-15T>C
|
rs1555792523
|
|
NM_002691.4(POLD1):c.2443TCC[1] (p.Ser816del)
|
rs763850764
|
|
NM_002691.4(POLD1):c.2565-15C>T
|
rs777857423
|
|
NM_002691.4(POLD1):c.269A>G (p.Gln90Arg)
|
rs778838312
|
|
NM_002691.4(POLD1):c.2717+15G>T
|
rs372493810
|
|
NM_002691.4(POLD1):c.2717+9C>T
|
rs760140187
|
|
NM_002691.4(POLD1):c.2887_2888insGGCCTGG (p.Ala963fs)
|
rs2039294872
|
|
NM_002691.4(POLD1):c.2953+12_2953+14delinsTC
|
rs1555793370
|
|
NM_002691.4(POLD1):c.2T>A (p.Met1Lys)
|
rs1057517594
|
|
NM_002691.4(POLD1):c.3067+11del
|
rs780881147
|
|
NM_002691.4(POLD1):c.3068-2A>G
|
rs1555793565
|
|
NM_002691.4(POLD1):c.3074_3076dup (p.Val1025_Cys1026insLeu)
|
rs1555793570
|
|
NM_002691.4(POLD1):c.317-8C>T
|
rs1057524774
|
|
NM_002691.4(POLD1):c.3218+9_3218+10inv
|
|
|
NM_002691.4(POLD1):c.3305del (p.Pro1102fs)
|
rs761614971
|
|
NM_002691.4(POLD1):c.463+8_463+9delinsTT
|
rs796285537
|
|
NM_002691.4(POLD1):c.835_837del (p.Glu279del)
|
rs746341854
|
|
NM_002691.4(POLD1):c.840+10_840+19del
|
rs770291150
|
|
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu)
|
rs397514633
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.263+1455del
|
rs979233150
|
|
NM_002878.4(RAD51D):c.263+1507_263+1509del
|
rs753760360
|
|
NM_002878.4(RAD51D):c.263+1596T>C
|
rs1057517631
|
|
NM_002878.4(RAD51D):c.263+1597C>A
|
rs755753106
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.326dup (p.Gly110fs)
|
rs730882119
|
|
NM_002878.4(RAD51D):c.339A>C (p.Lys113Asn)
|
rs786202507
|
|
NM_002878.4(RAD51D):c.349T>A (p.Cys117Ser)
|
rs786201358
|
|
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)
|
rs1057521922
|
|
NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs)
|
rs1555570506
|
|
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)
|
rs1555567197
|
|
NM_002878.4(RAD51D):c.757C>A (p.Arg253=)
|
rs137886232
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
NM_002878.4(RAD51D):c.785C>T (p.Pro262Leu)
|
rs730881950
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.424-14_424-9dup
|
rs1064794554
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003060.4(SLC22A5):c.-129_-102del
|
rs1279199437
|
|
NM_003060.4(SLC22A5):c.-131A>C
|
rs1554085854
|
|
NM_003060.4(SLC22A5):c.-25C>T
|
rs886059907
|
|
NM_003060.4(SLC22A5):c.1052+1G>T
|
rs1554087949
|
|
NM_003060.4(SLC22A5):c.1052+5G>A
|
rs927950152
|
|
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)
|
rs896634334
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
NM_003060.4(SLC22A5):c.1267+1G>A
|
rs1554088200
|
|
NM_003060.4(SLC22A5):c.1267+3_1267+24del
|
rs1554088199
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.137del (p.Pro46fs)
|
rs762986044
|
|
NM_003060.4(SLC22A5):c.13del (p.Asp5fs)
|
rs1554085892
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1451-1G>A
|
rs386134224
|
|
NM_003060.4(SLC22A5):c.1455dup (p.Tyr486fs)
|
rs1057517306
|
|
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)
|
rs763224132
|
|
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)
|
rs763224132
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
|
NM_003060.4(SLC22A5):c.1547del (p.Pro516fs)
|
rs761090705
|
|
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)
|
rs1554088578
|
|
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)
|
rs386134225
|
|
NM_003060.4(SLC22A5):c.1587-2A>G
|
rs1057516402
|
|
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)
|
rs1057516797
|
|
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr)
|
rs1554088647
|
|
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)
|
rs1554085942
|
|
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)
|
rs774971089
|
|
NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu)
|
rs774971089
|
|
NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter)
|
rs1253026669
|
|
NM_003060.4(SLC22A5):c.252_265dup (p.Ile89fs)
|
rs1554085973
|
|
NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg)
|
rs1554085885
|
|
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)
|
rs386134192
|
|
NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)
|
rs1321705165
|
|
NM_003060.4(SLC22A5):c.393+1G>A
|
rs1057517069
|
|
NM_003060.4(SLC22A5):c.393+5G>A
|
rs1554086029
|
|
NM_003060.4(SLC22A5):c.394-1G>T
|
rs1057517106
|
|
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)
|
rs121908892
|
|
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del)
|
rs1554086841
|
|
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)
|
rs1554085901
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter)
|
rs1057516765
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)
|
rs1022453298
|
|
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu)
|
rs386134196
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys)
|
rs796052033
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.653-2A>C
|
rs386134201
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)
|
rs775430253
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
|
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu)
|
rs1064793269
|
|
NM_003060.4(SLC22A5):c.844del (p.Arg282fs)
|
rs386134209
|
|
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del)
|
rs1554087707
|
|
NM_003060.4(SLC22A5):c.952-2A>G
|
rs1554087913
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)
|
rs1553541329
|
|
NM_003494.4(DYSF):c.1A>G (p.Met1Val)
|
rs1259378167
|
|
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)
|
rs1459713589
|
|
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)
|
rs1553495983
|
|
NM_003494.4(DYSF):c.75C>T (p.Ser25=)
|
rs375772222
|
|
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)
|
rs750344128
|
|
NM_003640.5(ELP1):c.-59_-56+15del
|
rs993537831
|
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086
|
|
NM_003640.5(ELP1):c.1189+1G>A
|
rs1554699327
|
|
NM_003640.5(ELP1):c.1360+1G>T
|
rs1201626345
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer)
|
rs1554698037
|
|
NM_003640.5(ELP1):c.147_150+1dup
|
rs1319053366
|
|
NM_003640.5(ELP1):c.150+1G>A
|
rs1554703831
|
|
NM_003640.5(ELP1):c.151-1G>A
|
rs1554703613
|
|
NM_003640.5(ELP1):c.151-1G>T
|
rs1554703613
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del)
|
rs1554697136
|
|
NM_003640.5(ELP1):c.1750+1G>T
|
rs770668926
|
|
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer)
|
rs1554696650
|
|
NM_003640.5(ELP1):c.1908+2T>A
|
rs1554696648
|
|
NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del)
|
rs1554696595
|
|
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del)
|
rs1554696580
|
|
NM_003640.5(ELP1):c.1A>T (p.Met1Leu)
|
rs1554703907
|
|
NM_003640.5(ELP1):c.2014+1G>A
|
rs1554696574
|
|
NM_003640.5(ELP1):c.2076dup (p.Arg693fs)
|
rs763445509
|
|
NM_003640.5(ELP1):c.2158del (p.His720fs)
|
rs1057516865
|
|
NM_003640.5(ELP1):c.2204+1G>A
|
rs1057517169
|
|
NM_003640.5(ELP1):c.2205-1G>C
|
rs1554695846
|
|
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del)
|
rs1554695751
|
|
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)
|
rs1358881100
|
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299
|
|
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)
|
rs749052963
|
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703
|
|
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)
|
rs1376166738
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999
|
|
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)
|
rs1554691848
|
|
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)
|
rs886063346
|
|
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)
|
rs1453695293
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572
|
|
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)
|
rs1554691544
|
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061
|
|
NM_003640.5(ELP1):c.386-2A>C
|
rs1554702880
|
|
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter)
|
rs780649768
|
|
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)
|
rs1554735745
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.54del (p.Asn20fs)
|
rs1554703874
|
|
NM_003640.5(ELP1):c.552+2T>A
|
rs1554702142
|
|
NM_003640.5(ELP1):c.552+2dup
|
rs1554702145
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099
|
|
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)
|
rs1554700891
|
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851
|
|
NM_003823.4(TNFRSF6B):c.*3C>T
|
rs1270503048
|
|
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs)
|
rs1305695581
|
|
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val)
|
rs1555816251
|
|
NM_003823.4(TNFRSF6B):c.769C>A (p.Leu257Met)
|
rs1301451713
|
|
NM_003823.4(TNFRSF6B):c.787G>A (p.Glu263Lys)
|
rs781286204
|
|
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=)
|
rs541025487
|
|
NM_004004.5(GJB2):c.-260C>T
|
rs886037626
|
|
NM_004004.6(GJB2):c.-22-2A>G
|
rs201895089
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)
|
rs111033296
|
|
NM_004004.6(GJB2):c.130_131del (p.Trp44fs)
|
rs1555341993
|
|
NM_004004.6(GJB2):c.134del (p.Gly45fs)
|
rs1057517491
|
|
NM_004004.6(GJB2):c.154G>C (p.Val52Leu)
|
rs1555341987
|
|
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg)
|
rs1555341986
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)
|
rs111033293
|
|
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
|
rs104894395
|
|
NM_004004.6(GJB2):c.232dup (p.Ala78fs)
|
rs1555341960
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro)
|
rs1555341957
|
|
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
|
rs1555341954
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.257C>T (p.Thr86Met)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.257del (p.Thr86fs)
|
rs1555341949
|
|
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)
|
rs1555341945
|
|
NM_004004.6(GJB2):c.278T>C (p.Met93Thr)
|
rs1461894310
|
|
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)
|
rs371086981
|
|
NM_004004.6(GJB2):c.301_303del (p.Glu101del)
|
rs1555341937
|
|
NM_004004.6(GJB2):c.312G>A (p.Arg104=)
|
rs267603770
|
|
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)
|
rs1555341931
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)
|
rs1555341926
|
|
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)
|
rs1555341907
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)
|
rs1555341874
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.49_50del (p.Ser17fs)
|
rs1555342007
|
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
|
NM_004004.6(GJB2):c.535G>C (p.Asp179His)
|
rs28931595
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.668_671del (p.Lys223fs)
|
rs1555341783
|
|
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)
|
rs1555341782
|
|
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)
|
rs769486081
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.210dup (p.Gly71fs)
|
rs1553997340
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004329.3(BMPR1A):c.1166+14del
|
rs1554891117
|
|
NM_004329.3(BMPR1A):c.1167-13T>G
|
rs1057517581
|
|
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)
|
rs1554891649
|
|
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)
|
rs1057517610
|
|
NM_004329.3(BMPR1A):c.334-16A>G
|
rs143279531
|
|
NM_004329.3(BMPR1A):c.676-8C>A
|
rs1554890727
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val)
|
rs1060503400
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)
|
rs786202827
|
|
NM_004360.5(CDH1):c.1009-14C>G
|
rs368293695
|
|
NM_004360.5(CDH1):c.1036C>G (p.Gln346Glu)
|
rs878854676
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1223C>G (p.Ala408Gly)
|
rs138135866
|
|
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)
|
rs587782189
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)
|
rs864622644
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
NM_004360.5(CDH1):c.1321-19_1321-16del
|
rs1555516065
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
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.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
NM_004360.5(CDH1):c.163+4_163+6dup
|
rs1205684749
|
|
NM_004360.5(CDH1):c.1633C>G (p.Arg545Gly)
|
rs863224727
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala)
|
rs786204155
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)
|
rs1555518270
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
NM_004360.5(CDH1):c.300C>G (p.Val100=)
|
rs786201463
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.446T>C (p.Leu149Pro)
|
rs780955025
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
NM_004360.5(CDH1):c.687+21del
|
rs778134914
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)
|
rs786201058
|
|
NM_004360.5(CDH1):c.826C>G (p.Leu276Val)
|
rs750911401
|
|
NM_004360.5(CDH1):c.832+17G>A
|
rs373179391
|
|
NM_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449
|
|
NM_004628.5(XPC):c.103+1G>A
|
rs1423398589
|
|
NM_004628.5(XPC):c.103+2T>G
|
rs1553608616
|
|
NM_004628.5(XPC):c.1143dup (p.Lys382fs)
|
rs1553605871
|
|
NM_004628.5(XPC):c.1185G>A (p.Lys395=)
|
rs886058051
|
|
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)
|
rs1553605813
|
|
NM_004628.5(XPC):c.128del (p.Pro43fs)
|
rs1260189637
|
|
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)
|
rs794729654
|
|
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)
|
rs1553605805
|
|
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)
|
rs1553605795
|
|
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)
|
rs754197041
|
|
NM_004628.5(XPC):c.1421dup (p.Arg475fs)
|
rs1553605761
|
|
NM_004628.5(XPC):c.1464_1466del (p.Gly489del)
|
rs1553605750
|
|
NM_004628.5(XPC):c.1465_1476del (p.Gly489_Arg492del)
|
rs1553605733
|
|
NM_004628.5(XPC):c.147del (p.Val51fs)
|
rs1553607773
|
|
NM_004628.5(XPC):c.1539G>A (p.Met513Ile)
|
rs3731130
|
|
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)
|
rs746250060
|
|
NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup)
|
rs1553605670
|
|
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)
|
rs767569346
|
|
NM_004628.5(XPC):c.1686del (p.Thr563fs)
|
rs1553605655
|
|
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)
|
rs752030576
|
|
NM_004628.5(XPC):c.1873-10G>T
|
rs886058049
|
|
NM_004628.5(XPC):c.1934del (p.Pro645fs)
|
rs1553605497
|
|
NM_004628.5(XPC):c.1A>T (p.Met1Leu)
|
rs763678756
|
|
NM_004628.5(XPC):c.2033+5G>A
|
rs374329989
|
|
NM_004628.5(XPC):c.2086GTG[3] (p.Val697_Arg698insVal)
|
rs1423935768
|
|
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)
|
rs1553605023
|
|
NM_004628.5(XPC):c.2116-1G>A
|
rs1553604620
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.2194dup (p.Leu732fs)
|
rs1309116467
|
|
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)
|
rs770308917
|
|
NM_004628.5(XPC):c.2251-2A>G
|
rs1553604570
|
|
NM_004628.5(XPC):c.2287del (p.Leu763fs)
|
rs1553604559
|
|
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)
|
rs1281090187
|
|
NM_004628.5(XPC):c.2331dup (p.Asn778fs)
|
rs1553604552
|
|
NM_004628.5(XPC):c.2336dup (p.His780fs)
|
rs1553604549
|
|
NM_004628.5(XPC):c.2605-2A>T
|
rs1553604251
|
|
NM_004628.5(XPC):c.2633del (p.Ala878fs)
|
rs1553604236
|
|
NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del)
|
rs751026244
|
|
NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del)
|
rs1553604206
|
|
NM_004628.5(XPC):c.2782A>T (p.Lys928Ter)
|
rs3731177
|
|
NM_004628.5(XPC):c.299+1G>A
|
rs1553607744
|
|
NM_004628.5(XPC):c.342_343del (p.Ala116fs)
|
rs1228981894
|
|
NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal)
|
rs1358623305
|
|
NM_004628.5(XPC):c.368del (p.Asn123fs)
|
rs1553607419
|
|
NM_004628.5(XPC):c.409dup (p.Glu137fs)
|
rs1208223013
|
|
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
|
rs1330667099
|
|
NM_004628.5(XPC):c.445_446del (p.Glu149fs)
|
rs1402162002
|
|
NM_004628.5(XPC):c.515dup (p.Ala173fs)
|
rs1553607144
|
|
NM_004628.5(XPC):c.52A>C (p.Ser18Arg)
|
rs587778757
|
|
NM_004628.5(XPC):c.537-1G>C
|
rs1326646197
|
|
NM_004628.5(XPC):c.55C>T (p.Gln19Ter)
|
rs1553608637
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_004628.5(XPC):c.618_619del (p.His206fs)
|
rs1553606979
|
|
NM_004628.5(XPC):c.621+2dup
|
rs1553606975
|
|
NM_004628.5(XPC):c.622-2A>G
|
rs201940931
|
|
NM_004628.5(XPC):c.779+1G>A
|
rs975121308
|
|
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup)
|
rs750450365
|
|
NM_004628.5(XPC):c.915dup (p.Leu306fs)
|
rs1553605973
|
|
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)
|
rs867461743
|
|
NM_004628.5(XPC):c.991-2A>G
|
rs1553605894
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
NM_004646.4(NPHS1):c.1013-1G>C
|
rs1057517413
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del)
|
rs1555763370
|
|
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg)
|
rs1555763367
|
|
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del)
|
rs1555763317
|
|
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)
|
rs142008044
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1316-2A>G
|
rs1555763090
|
|
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)
|
rs1057516776
|
|
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)
|
rs386833879
|
|
NM_004646.4(NPHS1):c.1369del (p.Ala457fs)
|
rs1057516918
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1])
|
rs1555762721
|
|
NM_004646.4(NPHS1):c.1745del (p.Lys582fs)
|
rs1057517021
|
|
NM_004646.4(NPHS1):c.174del (p.Gly59fs)
|
rs1057516942
|
|
NM_004646.4(NPHS1):c.1757+1G>A
|
rs1555762591
|
|
NM_004646.4(NPHS1):c.1931-1G>A
|
rs1555762381
|
|
NM_004646.4(NPHS1):c.1971del (p.Ala658fs)
|
rs1057517022
|
|
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs)
|
rs755763002
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter)
|
rs751809997
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
NM_004646.4(NPHS1):c.2515del (p.Gln839fs)
|
rs386833918
|
|
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs)
|
rs1244884053
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2663_2663+9del
|
rs771953692
|
|
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr)
|
rs1555761935
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2905del (p.Leu969fs)
|
rs369410355
|
|
NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs)
|
rs748819031
|
|
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter)
|
rs762184939
|
|
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs)
|
rs34124941
|
|
NM_004646.4(NPHS1):c.3115dup (p.His1039fs)
|
rs1057516637
|
|
NM_004646.4(NPHS1):c.3167-1G>A
|
rs1009762900
|
|
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu)
|
rs386833934
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His)
|
rs747849728
|
|
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del)
|
rs778137714
|
|
NM_004646.4(NPHS1):c.3286+5G>A
|
rs1555759089
|
|
NM_004646.4(NPHS1):c.3287-11G>A
|
rs1175331248
|
|
NM_004646.4(NPHS1):c.3287-2A>G
|
rs758432802
|
|
NM_004646.4(NPHS1):c.3312-1G>A
|
rs786204729
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del)
|
rs887991752
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs)
|
rs750714387
|
|
NM_004646.4(NPHS1):c.3594+1G>A
|
rs1555758856
|
|
NM_004646.4(NPHS1):c.3613del (p.Trp1205fs)
|
rs1555758163
|
|
NM_004646.4(NPHS1):c.3619del (p.Glu1207fs)
|
rs1430464721
|
|
NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys)
|
rs1403580615
|
|
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
|
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter)
|
rs1555758142
|
|
NM_004646.4(NPHS1):c.398-2A>G
|
rs1555763974
|
|
NM_004646.4(NPHS1):c.45del (p.Leu16fs)
|
rs1555764281
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.595del (p.Glu199fs)
|
rs1057517275
|
|
NM_004646.4(NPHS1):c.609-2A>C
|
rs386833955
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter)
|
rs386833959
|
|
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)
|
rs1555763503
|
|
NM_004646.4(NPHS1):c.851del (p.Pro284fs)
|
rs1555763460
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro)
|
rs755582721
|
|
NM_004937.3(CTNS):c.-19-1G>A
|
rs1555558034
|
|
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)
|
rs745806090
|
|
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)
|
rs1555564879
|
|
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)
|
rs779451531
|
|
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)
|
rs1057517330
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)
|
rs786204550
|
|
NM_004937.3(CTNS):c.20del (p.Thr7fs)
|
rs1555558078
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.225+5_225+7dup
|
rs1555561050
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.251del (p.Asn84fs)
|
rs1057516296
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)
|
rs1555562830
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)
|
rs1555563010
|
|
NM_004937.3(CTNS):c.462-27_462-3del
|
rs1555563374
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)
|
rs745365232
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.562-2_562-1del
|
rs1555563521
|
|
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)
|
rs1555563568
|
|
NM_004937.3(CTNS):c.61+1G>A
|
rs1555558116
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
NM_004937.3(CTNS):c.62-2A>G
|
rs1555560637
|
|
NM_004937.3(CTNS):c.681+1del
|
rs1555563658
|
|
NM_004937.3(CTNS):c.681+2T>C
|
rs1057516723
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>A
|
rs1057516771
|
|
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)
|
rs1555563962
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)
|
rs1555564600
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)
|
rs1064795587
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_004937.3(CTNS):c.971-1dup
|
rs1555564823
|
|
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)
|
rs1555142799
|
|
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=)
|
rs786202472
|
|
NM_005359.6(SMAD4):c.1647del (p.Gln549fs)
|
rs1555687615
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala)
|
rs587781977
|
|
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg)
|
rs1555685979
|
|
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile)
|
rs375185293
|
|
NM_005359.6(SMAD4):c.956-7C>T
|
rs778959035
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn)
|
rs1554660095
|
|
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)
|
rs1554660090
|
|
NM_005476.7(GNE):c.1099G>A (p.Val367Ile)
|
rs1554659769
|
|
NM_005476.7(GNE):c.1158del (p.Lys386fs)
|
rs1057516275
|
|
NM_005476.7(GNE):c.1262T>C (p.Val421Ala)
|
rs1057516364
|
|
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg)
|
rs1313840587
|
|
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys)
|
rs1447770049
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1411+1del
|
rs1057516597
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu)
|
rs1414079876
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1567C>A (p.Leu523Met)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1567C>G (p.Leu523Val)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs)
|
rs1057516340
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
NM_005476.7(GNE):c.1781del (p.Met594fs)
|
rs1057517157
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del)
|
rs1554657956
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)
|
rs1554657922
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
NM_005476.7(GNE):c.2T>C (p.Met1Thr)
|
rs1554664086
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
NM_005476.7(GNE):c.435_438del (p.Ile146fs)
|
rs1057516915
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
NM_005476.7(GNE):c.630dup (p.Ser211fs)
|
rs1554661569
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
NM_005476.7(GNE):c.640del (p.Tyr214fs)
|
rs1554661561
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del)
|
rs1554664082
|
|
NM_005476.7(GNE):c.748C>A (p.Leu250Met)
|
rs886042585
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.992T>G (p.Val331Gly)
|
rs1554660119
|
|
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)
|
rs118203899
|
|
NM_005562.3(LAMC2):c.1257del (p.Gly421fs)
|
rs1553266433
|
|
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)
|
rs1057516806
|
|
NM_005562.3(LAMC2):c.1468+1del
|
rs1553266537
|
|
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)
|
rs1057517353
|
|
NM_005562.3(LAMC2):c.1714+2T>C
|
rs1553266671
|
|
NM_005562.3(LAMC2):c.1715-1G>A
|
rs774080932
|
|
NM_005562.3(LAMC2):c.1715-1G>C
|
rs774080932
|
|
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs)
|
rs1553266871
|
|
NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)
|
rs1553264644
|
|
NM_005562.3(LAMC2):c.1858-1G>A
|
rs1057516487
|
|
NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs)
|
rs1057516569
|
|
NM_005562.3(LAMC2):c.1A>G (p.Met1Val)
|
rs886045625
|
|
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)
|
rs778012079
|
|
NM_005562.3(LAMC2):c.2014+1G>A
|
rs1553267007
|
|
NM_005562.3(LAMC2):c.2220+2T>G
|
rs1553267060
|
|
NM_005562.3(LAMC2):c.2348del (p.Glu783fs)
|
rs776142807
|
|
NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs)
|
rs1057516383
|
|
NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del)
|
rs1553267343
|
|
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs)
|
rs1553267345
|
|
NM_005562.3(LAMC2):c.2456+1G>C
|
rs1553267356
|
|
NM_005562.3(LAMC2):c.2456+2dup
|
rs1553267357
|
|
NM_005562.3(LAMC2):c.2541_2542del (p.His847fs)
|
rs1057516727
|
|
NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter)
|
rs151190720
|
|
NM_005562.3(LAMC2):c.2602-1G>C
|
rs1553267499
|
|
NM_005562.3(LAMC2):c.268+1G>A
|
rs759509443
|
|
NM_005562.3(LAMC2):c.2708AAG[2] (p.Glu905del)
|
rs1179496469
|
|
NM_005562.3(LAMC2):c.2755-2A>G
|
rs1553267554
|
|
NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs)
|
rs1057516935
|
|
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del)
|
rs1553267617
|
|
NM_005562.3(LAMC2):c.3069+1G>C
|
rs1553267638
|
|
NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs)
|
rs1057517159
|
|
NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs)
|
rs1553267679
|
|
NM_005562.3(LAMC2):c.3328+19_3328+25del
|
rs747693187
|
|
NM_005562.3(LAMC2):c.3328+8AACCCAC[3]
|
rs747693187
|
|
NM_005562.3(LAMC2):c.3329-2A>G
|
rs1553267870
|
|
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs)
|
rs1057516473
|
|
NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs)
|
rs1553267882
|
|
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)
|
rs201307156
|
|
NM_005562.3(LAMC2):c.3411del (p.Gln1137fs)
|
rs1553267885
|
|
NM_005562.3(LAMC2):c.3G>T (p.Met1Ile)
|
rs1479808203
|
|
NM_005562.3(LAMC2):c.503+1G>C
|
rs1057516410
|
|
NM_005562.3(LAMC2):c.504-2A>C
|
rs1553265770
|
|
NM_005562.3(LAMC2):c.537del (p.Asn180fs)
|
rs745512079
|
|
NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter)
|
rs1057516444
|
|
NM_005562.3(LAMC2):c.640+2T>A
|
rs1553265794
|
|
NM_005562.3(LAMC2):c.641-2A>G
|
rs1553265902
|
|
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)
|
rs753268823
|
|
NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter)
|
rs757617349
|
|
NM_005562.3(LAMC2):c.877_878del (p.Gly293fs)
|
rs1057516218
|
|
NM_005562.3(LAMC2):c.953+1G>A
|
rs1553266052
|
|
NM_005562.3(LAMC2):c.954-2A>T
|
rs1553266260
|
|
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)
|
rs371077728
|
|
NM_005591.4(MRE11):c.1098+17T>C
|
rs1805365
|
|
NM_005591.4(MRE11):c.1226-5T>C
|
rs1555009952
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1927-1G>T
|
rs1295485913
|
|
NM_005591.4(MRE11):c.314+6T>C
|
rs864622413
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
NM_005591.4(MRE11):c.315-4del
|
rs35062043
|
|
NM_005609.4(PYGM):c.1093-1G>T
|
rs1163710370
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup)
|
rs1555135069
|
|
NM_005609.4(PYGM):c.13_14del (p.Leu5fs)
|
rs772194378
|
|
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)
|
rs1057516612
|
|
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup)
|
rs1325298827
|
|
NM_005609.4(PYGM):c.1680del (p.Asn561fs)
|
rs1057516259
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1969+1G>T
|
rs753181427
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2136dup (p.Gly713fs)
|
rs1057517067
|
|
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)
|
rs1057517361
|
|
NM_005609.4(PYGM):c.219_220del (p.His74fs)
|
rs1555136752
|
|
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)
|
rs1057517058
|
|
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del)
|
rs758842259
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2312+3G>C
|
rs1555133430
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)
|
rs1400353740
|
|
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)
|
rs1057516529
|
|
NM_005609.4(PYGM):c.253del (p.Tyr85fs)
|
rs1057516629
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.262_263del (p.Leu88fs)
|
rs1555136540
|
|
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
NM_005609.4(PYGM):c.445_448del (p.Ala149fs)
|
rs1057517400
|
|
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)
|
rs1555136375
|
|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)
|
rs1555136828
|
|
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)
|
rs1555135785
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_005732.4(RAD50):c.1246-11T>C
|
rs746985455
|
|
NM_005732.4(RAD50):c.1246-8G>T
|
rs776650264
|
|
NM_005732.4(RAD50):c.183del (p.Gly63fs)
|
rs1554096791
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del)
|
rs1554099147
|
|
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)
|
rs1060501941
|
|
NM_005732.4(RAD50):c.3164+14del
|
rs148895884
|
|
NM_005732.4(RAD50):c.3164+22_3164+25dup
|
rs536987915
|
|
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)
|
rs878854799
|
|
NM_005732.4(RAD50):c.561dup (p.Ala188fs)
|
rs876659005
|
|
NM_005732.4(RAD50):c.756+7del
|
rs377720482
|
|
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=)
|
rs1555000463
|
|
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
|
rs1159666762
|
|
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)
|
rs1269558164
|
|
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup)
|
rs1554996686
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)
|
rs137853150
|
|
NM_006019.4(TCIRG1):c.1305+2T>C
|
rs1554997818
|
|
NM_006019.4(TCIRG1):c.1306-1G>A
|
rs1554997884
|
|
NM_006019.4(TCIRG1):c.1306-2dup
|
rs1554997880
|
|
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg)
|
rs1348842114
|
|
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)
|
rs1554997997
|
|
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)
|
rs1554998061
|
|
NM_006019.4(TCIRG1):c.1554+1G>T
|
rs1439348400
|
|
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)
|
rs1057517365
|
|
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del)
|
rs1425479122
|
|
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del)
|
rs1554999148
|
|
NM_006019.4(TCIRG1):c.1887+1G>C
|
rs1554999205
|
|
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)
|
rs1554999516
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del)
|
rs1554999539
|
|
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup)
|
rs757802200
|
|
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup)
|
rs1554999610
|
|
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del)
|
rs781509075
|
|
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del)
|
rs886332099
|
|
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)
|
rs1554995009
|
|
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro)
|
rs1279951928
|
|
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)
|
rs748659068
|
|
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3])
|
rs761752296
|
|
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4])
|
rs199973759
|
|
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)
|
rs1555000308
|
|
NM_006019.4(TCIRG1):c.2415-2A>G
|
rs1555000376
|
|
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)
|
rs1208311085
|
|
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)
|
rs886048594
|
|
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)
|
rs1554995330
|
|
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)
|
rs1554995350
|
|
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)
|
rs1554995341
|
|
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)
|
rs1385741705
|
|
NM_006019.4(TCIRG1):c.503+1G>A
|
rs1554995381
|
|
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)
|
rs1554995522
|
|
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del)
|
rs1554995554
|
|
NM_006019.4(TCIRG1):c.630+1G>T
|
rs1554995582
|
|
NM_006019.4(TCIRG1):c.630+2T>C
|
rs1392364437
|
|
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val)
|
rs1554995659
|
|
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile)
|
rs1554995662
|
|
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)
|
rs1554995706
|
|
NM_006019.4(TCIRG1):c.713+1G>C
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.713+1G>T
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del)
|
rs1554995833
|
|
NM_006019.4(TCIRG1):c.807+18_807+54del
|
rs1192256631
|
|
NM_006019.4(TCIRG1):c.807+1G>T
|
rs1458295257
|
|
NM_006019.4(TCIRG1):c.807+8_807+31del
|
rs1554995901
|
|
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal)
|
rs779622577
|
|
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup)
|
rs1554785878
|
|
NM_006214.4(PHYH):c.414+2T>C
|
rs1554784939
|
|
NM_006214.4(PHYH):c.621_623del (p.Val208del)
|
rs755838466
|
|
NM_006231.4(POLE):c.1016A>T (p.Asp339Val)
|
rs1060500865
|
|
NM_006231.4(POLE):c.1106+7C>A
|
rs369889926
|
|
NM_006231.4(POLE):c.1171_1173del (p.Lys391del)
|
rs753999122
|
|
NM_006231.4(POLE):c.1181del (p.Gln394fs)
|
rs764289504
|
|
NM_006231.4(POLE):c.1227-2A>T
|
rs1057517609
|
|
NM_006231.4(POLE):c.1284del (p.Lys429fs)
|
rs1057517613
|
|
NM_006231.4(POLE):c.1473+19G>A
|
rs1057517628
|
|
NM_006231.4(POLE):c.1474-13G>A
|
rs1555228383
|
|
NM_006231.4(POLE):c.1687-13A>G
|
rs527311638
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.1A>T (p.Met1Leu)
|
rs878854847
|
|
NM_006231.4(POLE):c.2026+14G>T
|
rs751509566
|
|
NM_006231.4(POLE):c.2027-16A>G
|
rs1057517614
|
|
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)
|
rs5744799
|
|
NM_006231.4(POLE):c.2174-12C>G
|
rs192222479
|
|
NM_006231.4(POLE):c.2320-9G>T
|
rs769834031
|
|
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del)
|
rs1064796065
|
|
NM_006231.4(POLE):c.2468+2dup
|
rs1555226665
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)
|
rs1555225958
|
|
NM_006231.4(POLE):c.2932dup (p.Glu978fs)
|
rs1032311596
|
|
NM_006231.4(POLE):c.2T>G (p.Met1Arg)
|
rs879254126
|
|
NM_006231.4(POLE):c.3275+12_3275+37dup
|
rs1057517627
|
|
NM_006231.4(POLE):c.3275+14C>G
|
rs368185422
|
|
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter)
|
rs1461016090
|
|
NM_006231.4(POLE):c.3459+2T>C
|
rs1057517634
|
|
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer)
|
rs1555224111
|
|
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup)
|
rs750939989
|
|
NM_006231.4(POLE):c.4150-12T>C
|
rs551697046
|
|
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser)
|
rs748378612
|
|
NM_006231.4(POLE):c.448C>T (p.Arg150Ter)
|
rs775815329
|
|
NM_006231.4(POLE):c.4631dup (p.Leu1545fs)
|
rs1555222731
|
|
NM_006231.4(POLE):c.4728+14_4728+21del
|
rs1311664292
|
|
NM_006231.4(POLE):c.4729-16dup
|
rs1057517615
|
|
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg)
|
rs1255478620
|
|
NM_006231.4(POLE):c.4952+13C>T
|
rs1057517612
|
|
NM_006231.4(POLE):c.4952+17_4952+19dup
|
rs571641918
|
|
NM_006231.4(POLE):c.4952+20_4952+22del
|
rs752389775
|
|
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del)
|
rs868246375
|
|
NM_006231.4(POLE):c.5679-14T>C
|
rs1555221517
|
|
NM_006231.4(POLE):c.5965del (p.Ala1989fs)
|
rs1555221193
|
|
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs)
|
rs765923256
|
|
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter)
|
rs1057517583
|
|
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)
|
rs774417192
|
|
NM_006231.4(POLE):c.6532-21_6532-20del
|
rs1555301127
|
|
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del)
|
rs1188033351
|
|
NM_006231.4(POLE):c.6658-12G>C
|
rs1555300850
|
|
NM_006231.4(POLE):c.6658-19C>G
|
rs5745081
|
|
NM_006231.4(POLE):c.6658-1G>A
|
rs1555300846
|
|
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)
|
rs878854896
|
|
NM_006231.4(POLE):c.721-13GT[2]
|
rs752682384
|
|
NM_006231.4(POLE):c.778C>T (p.Arg260Ter)
|
rs747946229
|
|
NM_006231.4(POLE):c.7C>G (p.Leu3Val)
|
rs1018143132
|
|
NM_006231.4(POLE):c.802-1G>C
|
rs1555229470
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006261.5(PROP1):c.156dup (p.Arg53fs)
|
rs1554182514
|
|
NM_006261.5(PROP1):c.191dup (p.Arg65fs)
|
rs1554182507
|
|
NM_006261.5(PROP1):c.197dup (p.His67fs)
|
rs1057517424
|
|
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup)
|
rs1554182643
|
|
NM_006261.5(PROP1):c.288_289del (p.Ile96fs)
|
rs1057516832
|
|
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)
|
rs1554182645
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)
|
rs1554182481
|
|
NM_006261.5(PROP1):c.342+1G>A
|
rs1436089021
|
|
NM_006261.5(PROP1):c.343-2A>T
|
rs1057517041
|
|
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del)
|
rs1554182637
|
|
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)
|
rs1554182405
|
|
NM_006261.5(PROP1):c.390_391del (p.Leu131fs)
|
rs1057517027
|
|
NM_006261.5(PROP1):c.557del (p.Ala186fs)
|
rs762529663
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.652dup (p.Ser218fs)
|
rs1554182363
|
|
NM_006261.5(PROP1):c.74_75dup (p.His26fs)
|
rs1554182632
|
|
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe)
|
rs1555345993
|
|
NM_006432.5(NPC2):c.191-1_193del
|
rs1555345873
|
|
NM_006432.5(NPC2):c.1A>G (p.Met1Val)
|
rs1555346369
|
|
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)
|
rs1555346368
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.364-2A>G
|
rs777654308
|
|
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)
|
rs781255433
|
|
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)
|
rs1555345616
|
|
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)
|
rs104894457
|
|
NM_006432.5(NPC2):c.442-1G>A
|
rs1555345562
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006493.2(CLN5):c.1A>G (p.Met1Val)
|
rs1268502139
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.4(CLN5):c.-7C>A
|
rs1555273557
|
|
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)
|
rs1555274391
|
|
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)
|
rs1555274402
|
|
NM_006493.4(CLN5):c.119del (p.Gly40fs)
|
rs1555273609
|
|
NM_006493.4(CLN5):c.133_134del (p.Ser45fs)
|
rs780198002
|
|
NM_006493.4(CLN5):c.155_167del (p.His52fs)
|
rs1057517134
|
|
NM_006493.4(CLN5):c.18del (p.Asp6fs)
|
rs1555273567
|
|
NM_006493.4(CLN5):c.191del (p.Pro64fs)
|
rs1555273882
|
|
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)
|
rs1555273571
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])
|
rs1409904698
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)
|
rs1555274012
|
|
NM_006493.4(CLN5):c.565+1G>A
|
rs1555274014
|
|
NM_006493.4(CLN5):c.565+2dup
|
rs1476787722
|
|
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)
|
rs1555274337
|
|
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)
|
rs1555274343
|
|
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)
|
rs1555274344
|
|
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs)
|
rs1057516814
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)
|
rs764790770
|
|
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)
|
rs104894385
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)
|
rs200348035
|
|
NM_006493.4(CLN5):c.906del (p.Glu303fs)
|
rs1555274369
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.995del (p.Leu332fs)
|
rs1555274387
|
|
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)
|
rs267606949
|
|
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)
|
rs587777483
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
NM_007194.4(CHEK2):c.-6-2A>G
|
rs1555932985
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)
|
rs1555913523
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His)
|
rs878854915
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)
|
rs1555932071
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
NM_007194.4(CHEK2):c.84C>A (p.Ser28=)
|
rs863224415
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
|
|
|
NM_007294.4(BRCA1):c.*1286C>T
|
rs548275991
|
|
NM_007294.4(BRCA1):c.-19-1G>A
|
rs569074958
|
|
NM_007294.4(BRCA1):c.-20+101_-20+102delinsGC
|
rs1057517555
|
|
NM_007294.4(BRCA1):c.-20+102dup
|
rs759063490
|
|
NM_007294.4(BRCA1):c.-20+103G>A
|
rs1057517546
|
|
NM_007294.4(BRCA1):c.-20+59G>T
|
rs1057517547
|
|
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)
|
rs397508826
|
|
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)
|
rs80356961
|
|
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser)
|
rs767666190
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg)
|
rs786203434
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.11C>T (p.Ser4Phe)
|
rs786203152
|
|
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)
|
rs397507184
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg)
|
rs398122634
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)
|
rs80356964
|
|
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1485del (p.Glu495fs)
|
rs1555591703
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)
|
rs41286294
|
|
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val)
|
rs80357333
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)
|
rs80357245
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)
|
rs45564238
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly)
|
rs80357105
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1996del (p.Leu666fs)
|
rs80357922
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser)
|
rs730881476
|
|
NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg)
|
rs876658307
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe)
|
rs80357182
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.213-24G>A
|
rs1555596751
|
|
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=)
|
rs273898678
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)
|
rs80357415
|
|
NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe)
|
rs80357051
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser)
|
rs1555590087
|
|
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)
|
rs398122655
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)
|
rs80357209
|
|
NM_007294.4(BRCA1):c.231G>A (p.Thr77=)
|
rs80356847
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)
|
rs80357203
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2472T>C (p.Asn824=)
|
rs786201415
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys)
|
rs377475866
|
|
NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr)
|
rs397508976
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser)
|
rs397507202
|
|
NM_007294.4(BRCA1):c.2706A>G (p.Glu902=)
|
rs398122665
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2811G>A (p.Lys937=)
|
rs876659271
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2913T>C (p.His971=)
|
rs786203804
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe)
|
rs730881487
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu)
|
rs876659270
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)
|
rs886038007
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys)
|
rs879255482
|
|
NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile)
|
rs786202070
|
|
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)
|
rs1064794177
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)
|
rs80356901
|
|
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
|
rs397509051
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3308G>T (p.Cys1103Phe)
|
rs80357135
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)
|
rs80357334
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.338A>G (p.Asn113Ser)
|
rs587780800
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3503dup (p.Asn1168fs)
|
rs397507216
|
|
NM_007294.4(BRCA1):c.3535A>C (p.Lys1179Gln)
|
rs587782188
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp)
|
rs398122675
|
|
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu)
|
rs763354142
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del)
|
rs1057517536
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser)
|
rs397507219
|
|
NM_007294.4(BRCA1):c.3785_3787del (p.Ser1262del)
|
rs1555587043
|
|
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)
|
rs80357217
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)
|
rs80357038
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)
|
rs587782241
|
|
NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg)
|
rs730881444
|
|
NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr)
|
rs1555596338
|
|
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=)
|
rs80356828
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)
|
rs80358341
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)
|
rs1057517574
|
|
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro)
|
rs876658221
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
NM_007294.4(BRCA1):c.4185+11TG[7]
|
rs273900723
|
|
NM_007294.4(BRCA1):c.4185+9C>A
|
rs80358034
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
NM_007294.4(BRCA1):c.4191G>A (p.Arg1397=)
|
rs1555584270
|
|
NM_007294.4(BRCA1):c.426C>T (p.Pro142=)
|
rs542687218
|
|
NM_007294.4(BRCA1):c.42C>T (p.Val14=)
|
rs80356827
|
|
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4358-2760dup
|
rs1555583250
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.441+17T>C
|
rs368415464
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr)
|
rs28897691
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met)
|
rs80357431
|
|
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr)
|
rs1060502325
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del)
|
rs80359888
|
|
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)
|
rs1555580900
|
|
NM_007294.4(BRCA1):c.4833_4847del (p.Gln1612_Ala1616del)
|
rs1555580795
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile)
|
rs80357158
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)
|
rs80357205
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
|
rs397507239
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5148T>G (p.Tyr1716Ter)
|
rs397509230
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5153-26A>G
|
rs80358109
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)
|
rs1057517590
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)
|
rs80357347
|
|
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)
|
rs730881496
|
|
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)
|
rs398122692
|
|
NM_007294.4(BRCA1):c.5194-10T>C
|
rs1555576995
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met)
|
rs398122694
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5332+1G>C
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5350G>A (p.Val1784Ile)
|
rs1060502328
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe)
|
rs878854958
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+24_5406+27del
|
rs766938984
|
|
NM_007294.4(BRCA1):c.5406+53A>T
|
rs273901766
|
|
NM_007294.4(BRCA1):c.5407-21C>T
|
rs273901768
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)
|
rs1057517637
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)
|
rs397507253
|
|
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala)
|
rs397509298
|
|
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu)
|
rs765656957
|
|
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe)
|
rs55688530
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)
|
rs398122708
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.716A>T (p.His239Leu)
|
rs80357396
|
|
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)
|
rs879255288
|
|
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys)
|
rs273902786
|
|
NM_007294.4(BRCA1):c.756T>C (p.Arg252=)
|
rs786201338
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.81-20C>T
|
rs80358039
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007294.4(BRCA1):c.832dup (p.Thr278fs)
|
rs886040325
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.869del (p.Leu290fs)
|
rs1555592956
|
|
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)
|
rs80357196
|
|
NM_007294.4(BRCA1):c.889A>G (p.Met297Val)
|
rs80357196
|
|
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys)
|
rs80356924
|
|
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr)
|
rs80357252
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)
|
rs727502978
|
|
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)
|
rs878854967
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.188_189del (p.Val63fs)
|
rs1554746565
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.214+1G>C
|
rs1244822375
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.215-2_215-1del
|
rs1554746793
|
|
NM_012203.2(GRHPR):c.228dup (p.Val77fs)
|
rs1057517238
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)
|
rs1554746097
|
|
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)
|
rs180177307
|
|
NM_012203.2(GRHPR):c.403_404+1del
|
rs1554747007
|
|
NM_012203.2(GRHPR):c.404del (p.Asn135fs)
|
rs1057516299
|
|
NM_012203.2(GRHPR):c.405-1G>A
|
rs779208888
|
|
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)
|
rs1057517333
|
|
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
|
rs1057517026
|
|
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)
|
rs1243273371
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
NM_012203.2(GRHPR):c.496del (p.Gln166fs)
|
rs1554747871
|
|
NM_012203.2(GRHPR):c.515del (p.Leu172fs)
|
rs1057516990
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012203.2(GRHPR):c.598+1G>T
|
rs111256477
|
|
NM_012203.2(GRHPR):c.598+1del
|
rs1554747933
|
|
NM_012203.2(GRHPR):c.599-1G>C
|
rs1422977131
|
|
NM_012203.2(GRHPR):c.755dup (p.Asp252fs)
|
rs1057516823
|
|
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)
|
rs1554748528
|
|
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
|
rs1554748534
|
|
NM_012203.2(GRHPR):c.83+51G>A
|
rs1554746162
|
|
NM_012203.2(GRHPR):c.83+51_83+52delinsA
|
rs35891798
|
|
NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
NM_012203.2(GRHPR):c.849dup (p.Thr284fs)
|
rs1554748574
|
|
NM_012203.2(GRHPR):c.863del (p.Cys288fs)
|
rs1554748598
|
|
NM_012203.2(GRHPR):c.865+2dup
|
rs1218448371
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)
|
rs200632069
|
|
NM_012203.2(GRHPR):c.935dup (p.Asn312fs)
|
rs1554749668
|
|
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)
|
rs1554749672
|
|
NM_012203.2(GRHPR):c.954del (p.Glu320fs)
|
rs1057516831
|
|
NM_012203.2(GRHPR):c.964_965del (p.Met322fs)
|
rs1554749707
|
|
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)
|
rs1554749727
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs)
|
rs1057517111
|
|
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs)
|
rs1554161865
|
|
NM_012434.5(SLC17A5):c.1259+1G>T
|
rs146095590
|
|
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)
|
rs1554160766
|
|
NM_012434.5(SLC17A5):c.1350+1G>A
|
rs1057516951
|
|
NM_012434.5(SLC17A5):c.1351-2A>G
|
rs1554160244
|
|
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)
|
rs1554160239
|
|
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)
|
rs1554160223
|
|
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)
|
rs1554160206
|
|
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)
|
rs1554160209
|
|
NM_012434.5(SLC17A5):c.204del (p.Asp69fs)
|
rs1057516549
|
|
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs)
|
rs1057516505
|
|
NM_012434.5(SLC17A5):c.215del (p.Thr72fs)
|
rs1057517269
|
|
NM_012434.5(SLC17A5):c.292-1G>C
|
rs1554164322
|
|
NM_012434.5(SLC17A5):c.292-2A>C
|
rs1057516528
|
|
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)
|
rs772039085
|
|
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter)
|
rs1057516257
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.423del (p.Phe141fs)
|
rs1057516419
|
|
NM_012434.5(SLC17A5):c.526-2A>G
|
rs1554164096
|
|
NM_012434.5(SLC17A5):c.613+2T>A
|
rs1554164078
|
|
NM_012434.5(SLC17A5):c.614-1G>A
|
rs1554163958
|
|
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
|
rs1057516862
|
|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs)
|
rs1554163878
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_012434.5(SLC17A5):c.820-2A>C
|
rs1554162842
|
|
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)
|
rs1554162837
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
NM_012434.5(SLC17A5):c.979-2A>G
|
rs1554162230
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)
|
rs1553156893
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)
|
rs773295759
|
|
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)
|
rs1553157427
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)
|
rs1553157429
|
|
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)
|
rs1553157450
|
|
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)
|
rs1475726598
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.189_191del (p.Asn64del)
|
rs1553155267
|
|
NM_013339.4(ALG6):c.235_237del (p.His79del)
|
rs1297610094
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])
|
rs1553155569
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)
|
rs886548508
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
NM_013339.4(ALG6):c.988G>T (p.Val330Phe)
|
rs1057518724
|
|
NM_014215.3(INSRR):c.3397+17G>T
|
rs139555558
|
|
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn)
|
rs1554100033
|
|
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter)
|
rs1554125059
|
|
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)
|
rs137853147
|
|
NM_014244.5(ADAMTS2):c.2458-6_2458del
|
rs1057517277
|
|
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs)
|
rs1554123627
|
|
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)
|
rs1555454566
|
|
NM_014249.4(NR2E3):c.350-26C>T
|
rs1048078452
|
|
NM_014249.4(NR2E3):c.571+44C>G
|
rs372602322
|
|
NM_014363.6(SACS):c.*20del
|
rs143617437
|
|
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)
|
rs1555250395
|
|
NM_014363.6(SACS):c.10050del (p.His3351fs)
|
rs1555250383
|
|
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)
|
rs1555250359
|
|
NM_014363.6(SACS):c.10090del (p.Ala3364fs)
|
rs1057517383
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)
|
rs1555250217
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)
|
rs1555250191
|
|
NM_014363.6(SACS):c.10536del (p.Ile3513fs)
|
rs1555250183
|
|
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)
|
rs1555250156
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)
|
rs771277098
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.10854del (p.Glu3619fs)
|
rs1057516773
|
|
NM_014363.6(SACS):c.1085del (p.Lys362fs)
|
rs1057517242
|
|
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)
|
rs1057516578
|
|
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)
|
rs1555250022
|
|
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)
|
rs1555250016
|
|
NM_014363.6(SACS):c.11042dup (p.Phe3682fs)
|
rs756597098
|
|
NM_014363.6(SACS):c.11081dup (p.Cys3694fs)
|
rs1057516856
|
|
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)
|
rs1555249977
|
|
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)
|
rs1555249966
|
|
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)
|
rs1057516398
|
|
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)
|
rs753205260
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.1137dup (p.Glu380fs)
|
rs1057516987
|
|
NM_014363.6(SACS):c.11428dup (p.Glu3810fs)
|
rs1555249894
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)
|
rs1555249881
|
|
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)
|
rs1555249826
|
|
NM_014363.6(SACS):c.11713del (p.Ala3906fs)
|
rs1555249797
|
|
NM_014363.6(SACS):c.11731del (p.Ser3911fs)
|
rs1057517232
|
|
NM_014363.6(SACS):c.1173T>A (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)
|
rs1555249789
|
|
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)
|
rs1555249772
|
|
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)
|
rs1555249766
|
|
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)
|
rs1555249745
|
|
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)
|
rs1314135259
|
|
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)
|
rs1555249695
|
|
NM_014363.6(SACS):c.12150del (p.Phe4050fs)
|
rs1555249662
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)
|
rs1555249633
|
|
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)
|
rs1555249607
|
|
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)
|
rs1555249599
|
|
NM_014363.6(SACS):c.12540del (p.Glu4180fs)
|
rs1057516347
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)
|
rs1555249469
|
|
NM_014363.6(SACS):c.12779del (p.Ser4260fs)
|
rs1555249460
|
|
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del)
|
rs764766520
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)
|
rs1555249424
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)
|
rs1555249369
|
|
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)
|
rs1555249338
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)
|
rs1555249326
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)
|
rs753277514
|
|
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)
|
rs1555249236
|
|
NM_014363.6(SACS):c.13360del (p.Ala4454fs)
|
rs1555249223
|
|
NM_014363.6(SACS):c.13393del (p.Leu4465fs)
|
rs1555249211
|
|
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)
|
rs745961541
|
|
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)
|
rs1555249133
|
|
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)
|
rs1178912631
|
|
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys)
|
rs746704660
|
|
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe)
|
rs1555254306
|
|
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer)
|
rs1057516543
|
|
NM_014363.6(SACS):c.2076del (p.Ser693fs)
|
rs1057516224
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2186-2A>G
|
rs1057516554
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)
|
rs1555252953
|
|
NM_014363.6(SACS):c.2329dup (p.Ser777fs)
|
rs1555252944
|
|
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)
|
rs1057517437
|
|
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)
|
rs1555252929
|
|
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs)
|
rs1555252928
|
|
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs)
|
rs1555252926
|
|
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)
|
rs1555252876
|
|
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)
|
rs142037771
|
|
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)
|
rs771746381
|
|
NM_014363.6(SACS):c.2627_2631del (p.Val876fs)
|
rs1555252844
|
|
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs)
|
rs1057516829
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)
|
rs1555252786
|
|
NM_014363.6(SACS):c.2870del (p.Pro957fs)
|
rs1057516624
|
|
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs)
|
rs1057517034
|
|
NM_014363.6(SACS):c.29del (p.Pro10fs)
|
rs1057516837
|
|
NM_014363.6(SACS):c.2T>C (p.Met1Thr)
|
rs1417057515
|
|
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del)
|
rs1555252742
|
|
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs)
|
rs1057516551
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del)
|
rs1555252672
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)
|
rs1555252634
|
|
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs)
|
rs1555252623
|
|
NM_014363.6(SACS):c.3556dup (p.Met1186fs)
|
rs1555252611
|
|
NM_014363.6(SACS):c.3633del (p.Ala1212fs)
|
rs1555252587
|
|
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)
|
rs959856535
|
|
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup)
|
rs1555252563
|
|
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs)
|
rs1555252545
|
|
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)
|
rs1555252531
|
|
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs)
|
rs1555252518
|
|
NM_014363.6(SACS):c.4039del (p.Leu1347fs)
|
rs1057516222
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del)
|
rs755941308
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del)
|
rs1555252463
|
|
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter)
|
rs1555252458
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233dup (p.Leu1412fs)
|
rs1555252448
|
|
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)
|
rs1057516930
|
|
NM_014363.6(SACS):c.4385dup (p.Arg1463fs)
|
rs1555252388
|
|
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs)
|
rs1057516294
|
|
NM_014363.6(SACS):c.4495dup (p.Met1499fs)
|
rs1555252359
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.4593dup (p.Asp1532fs)
|
rs780197970
|
|
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs)
|
rs1057516820
|
|
NM_014363.6(SACS):c.4760del (p.His1587fs)
|
rs1057516285
|
|
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)
|
rs757872635
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)
|
rs1459899547
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs)
|
rs1057517305
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis)
|
rs1555252172
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter)
|
rs1555252148
|
|
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)
|
rs1555252142
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del)
|
rs775922113
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)
|
rs1555252113
|
|
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)
|
rs1057517172
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs)
|
rs1188844823
|
|
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)
|
rs1555252070
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5719del (p.Arg1907fs)
|
rs1555252055
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)
|
rs759166250
|
|
NM_014363.6(SACS):c.5784dup (p.Arg1929fs)
|
rs1057517099
|
|
NM_014363.6(SACS):c.5919del (p.Glu1974fs)
|
rs1555251990
|
|
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)
|
rs1555251980
|
|
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)
|
rs1555251963
|
|
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del)
|
rs1555251960
|
|
NM_014363.6(SACS):c.6001dup (p.Arg2001fs)
|
rs1555251960
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.605-1G>A
|
rs1555254489
|
|
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)
|
rs1555251944
|
|
NM_014363.6(SACS):c.6068del (p.Asn2023fs)
|
rs1555251935
|
|
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)
|
rs1408290451
|
|
NM_014363.6(SACS):c.6163del (p.Gln2055fs)
|
rs1555251905
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.6231_6233del (p.Met2077del)
|
rs1555251880
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)
|
rs1555251840
|
|
NM_014363.6(SACS):c.6320del (p.Leu2107fs)
|
rs1057516295
|
|
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)
|
rs1555251818
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)
|
rs201690040
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)
|
rs1204242892
|
|
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys)
|
rs1555251719
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del)
|
rs1555251695
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del)
|
rs1555251650
|
|
NM_014363.6(SACS):c.6804del (p.Phe2268fs)
|
rs1057517301
|
|
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del)
|
rs1555251633
|
|
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)
|
rs1555251615
|
|
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)
|
rs1555251573
|
|
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter)
|
rs1555251514
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)
|
rs747676277
|
|
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs)
|
rs1555251428
|
|
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)
|
rs1555251421
|
|
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer)
|
rs1555251416
|
|
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs)
|
rs1057517451
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)
|
rs140034972
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del)
|
rs1555251315
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)
|
rs1057517014
|
|
NM_014363.6(SACS):c.7868del (p.Gly2623fs)
|
rs1555251301
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del)
|
rs1555251289
|
|
NM_014363.6(SACS):c.8009del (p.Leu2670fs)
|
rs1555251254
|
|
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)
|
rs1555251241
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8221del (p.Asn2742fs)
|
rs1555251151
|
|
NM_014363.6(SACS):c.8305dup (p.Ile2769fs)
|
rs1279988199
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)
|
rs1555251015
|
|
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)
|
rs1555254436
|
|
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs)
|
rs1555251007
|
|
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del)
|
rs1555251001
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8612dup (p.Leu2871fs)
|
rs1057517212
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
|
rs1555250949
|
|
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs)
|
rs1057517020
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)
|
rs1057516853
|
|
NM_014363.6(SACS):c.8873del (p.Lys2958fs)
|
rs765992922
|
|
NM_014363.6(SACS):c.8888del (p.Phe2963fs)
|
rs1555250872
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)
|
rs1388341388
|
|
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)
|
rs1555250684
|
|
NM_014363.6(SACS):c.9377dup (p.Leu3128fs)
|
rs1057516875
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9447del (p.Val3150fs)
|
rs1555250653
|
|
NM_014363.6(SACS):c.9498del (p.Phe3166fs)
|
rs1555250642
|
|
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)
|
rs1161557781
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)
|
rs1555250557
|
|
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)
|
rs1555250508
|
|
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)
|
rs768958169
|
|
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)
|
rs1057516464
|
|
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)
|
rs1293576848
|
|
NM_014363.6(SACS):c.9898_9900del (p.Val3300del)
|
rs762506287
|
|
NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del)
|
rs1553312282
|
|
NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs)
|
rs1553316648
|
|
NM_014625.4(NPHS2):c.1062dup (p.Asn355fs)
|
rs1057516900
|
|
NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del)
|
rs1553312159
|
|
NM_014625.4(NPHS2):c.156del (p.Thr53fs)
|
rs1272948499
|
|
NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter)
|
rs1167223941
|
|
NM_014625.4(NPHS2):c.166dup (p.Glu56fs)
|
rs1553316611
|
|
NM_014625.4(NPHS2):c.191TGG[1] (p.Val65del)
|
rs1553316600
|
|
NM_014625.4(NPHS2):c.249del (p.Leu84fs)
|
rs1553316575
|
|
NM_014625.4(NPHS2):c.275-2A>G
|
rs1553315173
|
|
NM_014625.4(NPHS2):c.369del (p.Cys124fs)
|
rs1057516395
|
|
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp)
|
rs139290621
|
|
NM_014625.4(NPHS2):c.3G>A (p.Met1Ile)
|
rs1057516680
|
|
NM_014625.4(NPHS2):c.451+15dup
|
rs748179295
|
|
NM_014625.4(NPHS2):c.451+2T>A
|
rs786204708
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys)
|
rs786204583
|
|
NM_014625.4(NPHS2):c.523C>T (p.Pro175Ser)
|
rs1472510122
|
|
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)
|
rs12568913
|
|
NM_014625.4(NPHS2):c.631T>A (p.Ser211Thr)
|
rs779736229
|
|
NM_014625.4(NPHS2):c.67_69del (p.Glu23del)
|
rs1398961188
|
|
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter)
|
rs1057516414
|
|
NM_014625.4(NPHS2):c.738+2T>C
|
rs1212702104
|
|
NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu)
|
rs1553313479
|
|
NM_014625.4(NPHS2):c.795-1G>A
|
rs1057516523
|
|
NM_014625.4(NPHS2):c.7AGG[1] (p.Arg4del)
|
rs1553316672
|
|
NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter)
|
rs1057517164
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014625.4(NPHS2):c.873+1G>A
|
rs1553312833
|
|
NM_014625.4(NPHS2):c.874-1G>A
|
rs776016942
|
|
NM_014625.4(NPHS2):c.874-2A>C
|
rs1031744496
|
|
NM_014625.4(NPHS2):c.934C>G (p.Leu312Val)
|
rs1553312393
|
|
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs)
|
rs1057516880
|
|
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)
|
rs763818901
|
|
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)
|
rs776859868
|
|
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del)
|
rs572609303
|
|
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)
|
rs572609303
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_015166.4(MLC1):c.-59-1G>C
|
rs1555968825
|
|
NM_015166.4(MLC1):c.1059+1G>A
|
rs1555963392
|
|
NM_015166.4(MLC1):c.1065del (p.Arg356fs)
|
rs1555962643
|
|
NM_015166.4(MLC1):c.1076del (p.Leu359fs)
|
rs1372842345
|
|
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg)
|
rs1555962581
|
|
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)
|
rs1555962581
|
|
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)
|
rs1378938503
|
|
NM_015166.4(MLC1):c.271_272del (p.Ile91fs)
|
rs1057516336
|
|
NM_015166.4(MLC1):c.321+1G>T
|
rs765879182
|
|
NM_015166.4(MLC1):c.324del (p.Asn110fs)
|
rs786204747
|
|
NM_015166.4(MLC1):c.423+2dup
|
rs1555967668
|
|
NM_015166.4(MLC1):c.42del (p.Met15fs)
|
rs1555968785
|
|
NM_015166.4(MLC1):c.448del (p.Leu150fs)
|
rs1555967227
|
|
NM_015166.4(MLC1):c.624_625del (p.Ala209fs)
|
rs1057517375
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)
|
rs41302601
|
|
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)
|
rs1057517228
|
|
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg)
|
rs886057625
|
|
NM_015166.4(MLC1):c.771+2dup
|
rs1555965439
|
|
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)
|
rs764669598
|
|
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)
|
rs121908341
|
|
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter)
|
rs1057516286
|
|
NM_015166.4(MLC1):c.895-1G>C
|
rs755271052
|
|
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)
|
rs764754702
|
|
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup)
|
rs761096481
|
|
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)
|
rs761096481
|
|
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln)
|
rs540358165
|
|
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)
|
rs281875313
|
|
NM_015346.4(ZFYVE26):c.1201CTC[1] (p.Leu402del)
|
rs1555400034
|
|
NM_015346.4(ZFYVE26):c.1436-1G>A
|
rs545219731
|
|
NM_015346.4(ZFYVE26):c.1763_1765del (p.Asp588_Leu589delinsVal)
|
rs1555399428
|
|
NM_015346.4(ZFYVE26):c.2248+2T>C
|
rs1555399278
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)
|
rs941230062
|
|
NM_015346.4(ZFYVE26):c.2401+1G>T
|
rs1555398778
|
|
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs)
|
rs768176054
|
|
NM_015346.4(ZFYVE26):c.2554-1G>C
|
rs760559263
|
|
NM_015346.4(ZFYVE26):c.2554-2A>G
|
rs1186788102
|
|
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)
|
rs1555398241
|
|
NM_015346.4(ZFYVE26):c.3020-1G>A
|
rs1555397638
|
|
NM_015346.4(ZFYVE26):c.3070C>T (p.Pro1024Ser)
|
rs267604032
|
|
NM_015346.4(ZFYVE26):c.3077TTC[1] (p.Leu1027del)
|
rs1555397625
|
|
NM_015346.4(ZFYVE26):c.3179_3180insTGA (p.Ser1060_Ile1061insAsp)
|
rs1555397578
|
|
NM_015346.4(ZFYVE26):c.3282_3293del (p.Arg1095_Leu1098del)
|
rs753694248
|
|
NM_015346.4(ZFYVE26):c.3292_3294dup (p.Leu1098dup)
|
rs763823801
|
|
NM_015346.4(ZFYVE26):c.3463TTC[1] (p.Phe1156del)
|
rs1555397452
|
|
NM_015346.4(ZFYVE26):c.3524-2A>G
|
rs1555397331
|
|
NM_015346.4(ZFYVE26):c.3626+1G>C
|
rs1555397310
|
|
NM_015346.4(ZFYVE26):c.363+1G>A
|
rs935301743
|
|
NM_015346.4(ZFYVE26):c.363+2T>G
|
rs760001730
|
|
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)
|
rs774809466
|
|
NM_015346.4(ZFYVE26):c.4372+1_4372+3del
|
rs1555396965
|
|
NM_015346.4(ZFYVE26):c.4798-1G>T
|
rs1555396303
|
|
NM_015346.4(ZFYVE26):c.5125_5127del (p.Glu1709del)
|
rs1555396056
|
|
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)
|
rs1214483973
|
|
NM_015346.4(ZFYVE26):c.5321-2A>G
|
rs1555395560
|
|
NM_015346.4(ZFYVE26):c.5484+1G>T
|
rs1555395524
|
|
NM_015346.4(ZFYVE26):c.5484+1del
|
rs1555395525
|
|
NM_015346.4(ZFYVE26):c.5485-2A>G
|
rs1555395288
|
|
NM_015346.4(ZFYVE26):c.5581_5583del (p.Ala1861del)
|
rs1555395254
|
|
NM_015346.4(ZFYVE26):c.5767_5790+3dup
|
rs1555394994
|
|
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter)
|
rs1555394824
|
|
NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del)
|
rs1555394387
|
|
NM_015346.4(ZFYVE26):c.6276_6278del (p.Pro2093del)
|
rs755756797
|
|
NM_015346.4(ZFYVE26):c.6475TAC[1] (p.Tyr2160del)
|
rs1555394298
|
|
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del)
|
rs764479245
|
|
NM_015346.4(ZFYVE26):c.6987-1G>A
|
rs1555393393
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015346.4(ZFYVE26):c.7188+1G>A
|
rs1555393338
|
|
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)
|
rs869312914
|
|
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer)
|
rs771393692
|
|
NM_015346.4(ZFYVE26):c.7371+1G>A
|
rs1555393181
|
|
NM_015346.4(ZFYVE26):c.7390C>T (p.Gln2464Ter)
|
rs1555393011
|
|
NM_015346.4(ZFYVE26):c.7416+2T>C
|
rs1555393005
|
|
NM_015346.4(ZFYVE26):c.7434_7435del (p.Ile2478fs)
|
rs1555392785
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)
|
rs1553162857
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
|
rs1553162868
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)
|
rs1553162931
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.574del (p.Leu192fs)
|
rs1553162943
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)
|
rs755881820
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_017654.4(SAMD9):c.132del (p.Val45fs)
|
rs1554337424
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)
|
rs1554337029
|
|
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)
|
rs1554336918
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)
|
rs755666547
|
|
NM_017739.4(POMGNT1):c.*335_*361del
|
rs754791169
|
|
NM_017739.4(POMGNT1):c.*499G>A
|
rs866924336
|
|
NM_017739.4(POMGNT1):c.*513del
|
rs1553162438
|
|
NM_017739.4(POMGNT1):c.*5TCC[1]
|
rs780919404
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)
|
rs1057517369
|
|
NM_017739.4(POMGNT1):c.121-2A>G
|
rs1057516871
|
|
NM_017739.4(POMGNT1):c.1212-1G>C
|
rs1553163254
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1538_1539+2del
|
rs1057516576
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)
|
rs1057517422
|
|
NM_017739.4(POMGNT1):c.1604+1G>A
|
rs1553162873
|
|
NM_017739.4(POMGNT1):c.1604+2T>C
|
rs1553162872
|
|
NM_017739.4(POMGNT1):c.1649+2T>G
|
rs1268759044
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)
|
rs1057516986
|
|
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)
|
rs749332339
|
|
NM_017739.4(POMGNT1):c.1786-1G>A
|
rs1457667479
|
|
NM_017739.4(POMGNT1):c.1786-2A>G
|
rs1057517340
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del)
|
rs1553162667
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT
|
rs1553162621
|
|
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)
|
rs1553162601
|
|
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)
|
rs144068158
|
|
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)
|
rs1553162587
|
|
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)
|
rs1553164129
|
|
NM_017739.4(POMGNT1):c.354+1G>A
|
rs1057517449
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)
|
rs1553163909
|
|
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)
|
rs1057516478
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.653-2A>C
|
rs1553163721
|
|
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)
|
rs386834010
|
|
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)
|
rs1057517247
|
|
NM_017739.4(POMGNT1):c.879+1G>C
|
rs1553163590
|
|
NM_017739.4(POMGNT1):c.879+2T>C
|
rs1057516318
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-2A>G
|
rs1057516830
|
|
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)
|
rs386834040
|
|
NM_017739.4(POMGNT1):c.987del (p.Pro330fs)
|
rs1057516955
|
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)
|
rs1555597302
|
|
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)
|
rs1555597266
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.1614del (p.Met539fs)
|
rs1555596555
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
|
rs780100856
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.1A>G (p.Met1Val)
|
rs1555440206
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)
|
rs886051447
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)
|
rs1555438678
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.542+1G>T
|
rs1555438614
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)
|
rs1555438267
|
|
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
|
rs1555438234
|
|
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)
|
rs150363441
|
|
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)
|
rs1555438229
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)
|
rs1448520404
|
|
NM_017890.4(VPS13B):c.10018_10021delGTTG
|
rs1554579522
|
|
NM_017890.4(VPS13B):c.6733_6748del16
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.4:c.3542_3543ins5
|
|
|
NM_017890.4:c.7128_7129ins5
|
|
|
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs)
|
rs1554824897
|
|
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His)
|
rs768432188
|
|
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=)
|
rs1554824934
|
|
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp)
|
rs1554824936
|
|
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=)
|
rs1455372294
|
|
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs)
|
rs1554824976
|
|
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn)
|
rs1554824983
|
|
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=)
|
rs1554825004
|
|
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg)
|
rs1554825009
|
|
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu)
|
rs1554825023
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.880del (p.Arg294fs)
|
rs1490906786
|
|
NM_018941.4(CLN8):c.-123-1G>C
|
rs1554448791
|
|
NM_018941.4(CLN8):c.-131_-124+13del
|
rs1554446821
|
|
NM_018941.4(CLN8):c.204del (p.Thr69fs)
|
rs1554449028
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)
|
rs1554448874
|
|
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.47del (p.Leu16fs)
|
rs1057516867
|
|
NM_018941.4(CLN8):c.507C>T (p.Ser169=)
|
rs386834131
|
|
NM_018941.4(CLN8):c.50del (p.Asp17fs)
|
rs1554448924
|
|
NM_018941.4(CLN8):c.544-2A>G
|
rs1554451484
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.594del (p.His199fs)
|
rs1554451504
|
|
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)
|
rs1554451561
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
|
rs786204762
|
|
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)
|
rs786204498
|
|
NM_019098.5(CNGB3):c.1179-2A>T
|
rs1057517167
|
|
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)
|
rs376711003
|
|
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)
|
rs1057516866
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_019098.5(CNGB3):c.1481-2A>C
|
rs1554609978
|
|
NM_019098.5(CNGB3):c.1578+2C>G
|
rs1554609943
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.163dup (p.Thr55fs)
|
rs1057516782
|
|
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val)
|
rs1262707163
|
|
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)
|
rs1554607548
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)
|
rs1554604849
|
|
NM_019098.5(CNGB3):c.1908del (p.Ile637fs)
|
rs1057516571
|
|
NM_019098.5(CNGB3):c.1928+2T>C
|
rs1057517454
|
|
NM_019098.5(CNGB3):c.1929-2A>G
|
rs1057517388
|
|
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer)
|
rs745557293
|
|
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)
|
rs1554604775
|
|
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter)
|
rs1554604769
|
|
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)
|
rs1057517434
|
|
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)
|
rs199570140
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_019098.5(CNGB3):c.412del (p.Arg138fs)
|
rs1057516791
|
|
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs)
|
rs1554614402
|
|
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
|
rs748993388
|
|
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs)
|
rs1057517053
|
|
NM_019098.5(CNGB3):c.567del (p.Trp189fs)
|
rs1057517052
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_020533.2(MCOLN1):c.-1015_789del
|
|
|
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)
|
rs1057516904
|
|
NM_020533.3(MCOLN1):c.1134+2T>C
|
rs1555742162
|
|
NM_020533.3(MCOLN1):c.1135-1G>A
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1135-1G>C
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1135-2A>G
|
rs1057517335
|
|
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter)
|
rs1057516531
|
|
NM_020533.3(MCOLN1):c.1476del (p.Phe493fs)
|
rs1555742362
|
|
NM_020533.3(MCOLN1):c.1621del (p.Ile541fs)
|
rs1555742787
|
|
NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del)
|
rs1555742834
|
|
NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer)
|
rs1555742837
|
|
NM_020533.3(MCOLN1):c.32-2A>G
|
rs1555741545
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)
|
rs1057516602
|
|
NM_020533.3(MCOLN1):c.571+2T>C
|
rs1555741822
|
|
NM_020533.3(MCOLN1):c.681-2A>G
|
rs1057517453
|
|
NM_020533.3(MCOLN1):c.777+12dup
|
rs563339019
|
|
NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del)
|
rs1555742012
|
|
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)
|
rs1057517040
|
|
NM_020533.3(MCOLN1):c.973_984+10del
|
rs779141908
|
|
NM_020975.6(RET):c.1267G>A (p.Gly423Arg)
|
rs767601598
|
|
NM_020975.6(RET):c.1538C>T (p.Ala513Val)
|
rs149238501
|
|
NM_020975.6(RET):c.1777G>A (p.Gly593Arg)
|
rs878855059
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1876C>A (p.Gln626Lys)
|
rs1255575160
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2137-16del
|
rs1409965349
|
|
NM_020975.6(RET):c.2284+54C>A
|
rs566375223
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2523G>A (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2531G>T (p.Arg844Leu)
|
rs55947360
|
|
NM_020975.6(RET):c.2543T>A (p.Met848Lys)
|
rs201101792
|
|
NM_020975.6(RET):c.2641C>G (p.Leu881Val)
|
rs377767427
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.3040-11C>G
|
rs1057517646
|
|
NM_020975.6(RET):c.3142C>G (p.Leu1048Val)
|
rs774347808
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.3188-2A>G
|
rs1554820302
|
|
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs)
|
rs768949918
|
|
NM_022042.4(SLC26A1):c.139del (p.Arg47fs)
|
rs1553915793
|
|
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs)
|
rs1553915253
|
|
NM_022042.4(SLC26A1):c.154del (p.Asp52fs)
|
rs1553915784
|
|
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs)
|
rs1553915228
|
|
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs)
|
rs1265696919
|
|
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs)
|
rs1265696919
|
|
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr)
|
rs387907481
|
|
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del)
|
rs1553915189
|
|
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs)
|
rs1372086275
|
|
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)
|
rs1553915192
|
|
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter)
|
rs200798328
|
|
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs)
|
rs1553915188
|
|
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer)
|
rs1553915173
|
|
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs)
|
rs1553915155
|
|
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs)
|
rs1553915149
|
|
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter)
|
rs752252231
|
|
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter)
|
rs1553915726
|
|
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs)
|
rs1553915711
|
|
NM_022042.4(SLC26A1):c.347del (p.Gly116fs)
|
rs756881822
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)
|
rs886038682
|
|
NM_024301.5(FKRP):c.1078G>C (p.Asp360His)
|
rs770195088
|
|
NM_024301.5(FKRP):c.1119del (p.Asn374fs)
|
rs1555739041
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)
|
rs1555739117
|
|
NM_024301.5(FKRP):c.1208del (p.Phe403fs)
|
rs1555739119
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg)
|
rs1555739321
|
|
NM_024301.5(FKRP):c.1475del (p.Thr492fs)
|
rs1555739333
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.170_186dup (p.Val63fs)
|
rs1555738149
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)
|
rs1555738245
|
|
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)
|
rs1220815256
|
|
NM_024301.5(FKRP):c.345_349del (p.Arg116fs)
|
rs1555738311
|
|
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)
|
rs104894690
|
|
NM_024301.5(FKRP):c.464del (p.Leu155fs)
|
rs1555738456
|
|
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)
|
rs1555738483
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup)
|
rs1555738552
|
|
NM_024301.5(FKRP):c.558dup (p.Ala187fs)
|
rs1191737604
|
|
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)
|
rs1555738568
|
|
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)
|
rs878855080
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)
|
rs1555738675
|
|
NM_024301.5(FKRP):c.696G>T (p.Ala232=)
|
rs398124394
|
|
NM_024301.5(FKRP):c.708G>A (p.Leu236=)
|
rs886038683
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)
|
rs752731569
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)
|
rs1555738823
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)
|
rs1483781400
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
rs28937901
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)
|
rs748809942
|
|
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs)
|
rs1555270321
|
|
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)
|
rs78347057
|
|
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer)
|
rs1555270066
|
|
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)
|
rs397507448
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del)
|
rs1555269798
|
|
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)
|
rs281864982
|
|
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)
|
rs143788461
|
|
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu)
|
rs1555269734
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)
|
rs281864983
|
|
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del)
|
rs754722814
|
|
NM_024312.5(GNPTAB):c.204-1G>C
|
rs748389002
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)
|
rs281864992
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)
|
rs752874974
|
|
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del)
|
rs774128798
|
|
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del)
|
rs779351251
|
|
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del)
|
rs1277911354
|
|
NM_024312.5(GNPTAB):c.3250-2A>G
|
rs875989952
|
|
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup)
|
rs745600783
|
|
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)
|
rs281865018
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp)
|
rs1555268297
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)
|
rs1555267839
|
|
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
|
rs35333334
|
|
NM_024312.5(GNPTAB):c.366-2A>G
|
rs1555271868
|
|
NM_024312.5(GNPTAB):c.3694-1G>C
|
rs1297022622
|
|
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)
|
rs556318081
|
|
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)
|
rs1555277081
|
|
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)
|
rs281864955
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)
|
rs281864963
|
|
NM_024312.5(GNPTAB):c.771+1G>C
|
rs1555271217
|
|
NM_024312.5(GNPTAB):c.771+2T>A
|
rs1555271215
|
|
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer)
|
rs1555270428
|
|
NM_024312.5(GNPTAB):c.933+1G>T
|
rs1327876395
|
|
NM_024312.5(GNPTAB):c.99del (p.Ala34fs)
|
rs1408113895
|
|
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)
|
rs1555048530
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)
|
rs1555050401
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)
|
rs1555050422
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)
|
rs1450045618
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.432+9_432+12del
|
rs1555046629
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)
|
rs1555048487
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
rs786204080
|
|
NM_024675.4(PALB2):c.1103del (p.Asn368fs)
|
rs1555461451
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1684+10G>T
|
rs1057517620
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys)
|
rs786203747
|
|
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer)
|
rs1555460682
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
NM_024675.4(PALB2):c.18G>A (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.2067G>T (p.Ser689=)
|
rs371149159
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
NM_024675.4(PALB2):c.212-2A>T
|
rs730881879
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)
|
rs774049060
|
|
NM_024675.4(PALB2):c.2156del (p.Pro719fs)
|
rs876660193
|
|
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del)
|
rs781693946
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del)
|
rs1555460399
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)
|
rs764925691
|
|
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)
|
rs730881889
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2514+20_2514+21del
|
rs750567675
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
NM_024675.4(PALB2):c.2749-16_2749-14del
|
rs765742648
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser)
|
rs878855113
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.423G>A (p.Gln141=)
|
rs786202680
|
|
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del)
|
rs760629975
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
NM_024675.4(PALB2):c.666_669del (p.Leu222fs)
|
rs1555461683
|
|
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)
|
rs587780823
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.843_845del (p.Arg282del)
|
rs786203247
|
|
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu)
|
rs180177094
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup)
|
rs876660786
|
|
NM_024675.4(PALB2):c.999C>T (p.Thr333=)
|
rs180177096
|
|
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)
|
rs1555202655
|
|
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)
|
rs1057516998
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1024del (p.Ile342fs)
|
rs765561672
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)
|
rs1555202642
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)
|
rs1057517206
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)
|
rs767108821
|
|
NM_024685.4(BBS10):c.1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1533del (p.Thr512fs)
|
rs773864735
|
|
NM_024685.4(BBS10):c.1538dup (p.Thr514fs)
|
rs1555202599
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)
|
rs756523417
|
|
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1952del (p.Lys651fs)
|
rs1555202562
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)
|
rs1555202553
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)
|
rs1555202546
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.214_215del (p.Val72fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)
|
rs1555202737
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)
|
rs1057516240
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)
|
rs1057516753
|
|
NM_024685.4(BBS10):c.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.534_535del (p.Phe178fs)
|
rs1555202698
|
|
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)
|
rs574032499
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)
|
rs1555202681
|
|
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)
|
rs1555202801
|
|
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)
|
rs1057516836
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_025077.4(TOE1):c.-54G>C
|
rs540793556
|
|
NM_025077.4(TOE1):c.-54G>T
|
rs540793556
|
|
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC
|
rs886054542
|
|
NM_025136.4(OPA3):c.100dup (p.Ser34fs)
|
rs1555736803
|
|
NM_025136.4(OPA3):c.142+1G>A
|
rs1555736793
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)
|
rs1555732942
|
|
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)
|
rs1555736840
|
|
NM_025136.4(OPA3):c.331_333del (p.Lys111del)
|
rs1353357190
|
|
NM_025136.4(OPA3):c.334del (p.Glu112fs)
|
rs1555732911
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup)
|
rs1363616568
|
|
NM_025136.4(OPA3):c.431del (p.Pro144fs)
|
rs1205708262
|
|
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del)
|
rs745544229
|
|
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)
|
rs1057516497
|
|
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)
|
rs1555736814
|
|
NM_031885.3(BBS2):c.1528_1539del12
|
rs1555521575
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1081-1G>T
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.1797+1G>A
|
rs1555521489
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)
|
rs1555520220
|
|
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)
|
rs1555520212
|
|
NM_031885.5(BBS2):c.2060-1G>T
|
rs1555520142
|
|
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr)
|
rs1555520101
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.324_343del (p.Asn108fs)
|
rs1555523964
|
|
NM_031885.5(BBS2):c.365C>T (p.Ala122Val)
|
rs17856449
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.55del (p.Val19fs)
|
rs1555524593
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)
|
rs1555522252
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1474-13_1475del
|
rs1555603635
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
NM_032043.3(BRIP1):c.1629-500G>A
|
rs1057517645
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)
|
rs1555602554
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
NM_032043.3(BRIP1):c.2576-17T>G
|
rs1057517647
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter)
|
rs35080306
|
|
NM_032380.5(GFM2):c.2239dup (p.Thr747fs)
|
rs1554037537
|
|
NM_032383.5(HPS3):c.89_114del (p.Arg30fs)
|
rs1553750083
|
|
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)
|
rs756959430
|
|
NM_032520.5(GNPTG):c.110+1G>A
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.178+2T>C
|
rs1555450744
|
|
NM_032520.5(GNPTG):c.233+1G>T
|
rs376679416
|
|
NM_032520.5(GNPTG):c.233+2T>A
|
rs1555451608
|
|
NM_032520.5(GNPTG):c.233+2T>C
|
rs1555451608
|
|
NM_032520.5(GNPTG):c.234-1G>A
|
rs112850896
|
|
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)
|
rs1555451643
|
|
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)
|
rs1555450681
|
|
NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr)
|
rs1555450661
|
|
NM_032520.5(GNPTG):c.318-1G>A
|
rs193302847
|
|
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)
|
rs763678034
|
|
NM_032520.5(GNPTG):c.412-1G>C
|
rs1555451866
|
|
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del)
|
rs1555451962
|
|
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln)
|
rs749314645
|
|
NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del)
|
rs1344845304
|
|
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)
|
rs756225251
|
|
NM_032520.5(GNPTG):c.609+1G>C
|
rs1260510628
|
|
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del)
|
rs1555452031
|
|
NM_032520.5(GNPTG):c.685del (p.Gln229fs)
|
rs772287534
|
|
NM_032520.5(GNPTG):c.742-1G>A
|
rs373976323
|
|
NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly)
|
rs137853826
|
|
NM_032520.5(GNPTG):c.750dup (p.Glu251fs)
|
rs758242017
|
|
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)
|
rs1555452081
|
|
NM_032520.5(GNPTG):c.814_816del (p.Arg272del)
|
rs1555452112
|
|
NM_032520.5(GNPTG):c.823+1G>T
|
rs1385935677
|
|
NM_032520.5(GNPTG):c.824-39_824-13del
|
rs1555452124
|
|
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup)
|
rs1555452152
|
|
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter)
|
rs1555452155
|
|
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter)
|
rs772723751
|
|
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs)
|
rs1555452172
|
|
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs)
|
rs1555452169
|
|
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter)
|
rs751864147
|
|
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs)
|
rs1555452178
|
|
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro)
|
rs775705721
|
|
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter)
|
rs780260521
|
|
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs)
|
rs1555452195
|
|
NM_032957.4(RTEL1):c.838_840delGAG
|
rs1555901753
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131
|
|
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter)
|
rs1033803342
|
|
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup)
|
rs1554821093
|
|
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
|
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del)
|
rs1358121247
|
|
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs)
|
rs1554820916
|
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs)
|
rs1554820902
|
|
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs)
|
rs1554820894
|
|
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs)
|
rs1554820891
|
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483
|
|
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs)
|
rs1554820847
|
|
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs)
|
rs1363726588
|
|
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup)
|
rs1554820809
|
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)
|
rs770063261
|
|
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs)
|
rs1554820712
|
|
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)
|
rs1554820690
|
|
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup)
|
rs1554820687
|
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs)
|
rs1554820651
|
|
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter)
|
rs1554820648
|
|
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs)
|
rs1554820630
|
|
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs)
|
rs1554820628
|
|
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr)
|
rs1554820541
|
|
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup)
|
rs750133663
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310
|
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299
|
|
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs)
|
rs1554820498
|
|
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val)
|
rs141103437
|
|
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter)
|
rs1554820445
|
|
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup)
|
rs1554820428
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614
|
|
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs)
|
rs1554820378
|
|
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup)
|
rs1554820353
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs)
|
rs1554820332
|
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318
|
|
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del)
|
rs1554820270
|
|
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs)
|
rs1554820230
|
|
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)
|
rs1554820212
|
|
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)
|
rs1554820145
|
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140
|
|
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)
|
rs756858099
|
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191
|
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050
|
|
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del)
|
rs957797299
|
|
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)
|
rs1554820127
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del)
|
rs1554820073
|
|
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del)
|
rs1415161284
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs)
|
rs1554820022
|
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs)
|
rs1554819982
|
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)
|
rs1376879405
|
|
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)
|
rs1554819957
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs)
|
rs1554819925
|
|
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del)
|
rs1554819833
|
|
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)
|
rs764759018
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)
|
rs1554819653
|
|
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)
|
rs1418472770
|
|
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs)
|
rs794727570
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter)
|
rs1554819599
|
|
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs)
|
rs1554819570
|
|
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs)
|
rs1554819558
|
|
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter)
|
rs780553426
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del)
|
rs1554819513
|
|
NM_033056.4(PCDH15):c.5753del (p.Met1918fs)
|
rs1554819525
|
|
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs)
|
rs755876430
|
|
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs)
|
rs1554819488
|
|
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
|
rs1554819493
|
|
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
|
rs750168790
|
|
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs)
|
rs1368908688
|
|
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)
|
rs757543551
|
|
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs)
|
rs1554819436
|
|
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del)
|
rs753852395
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[9]
|
rs113052866
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_052845.4(MMAB):c.107del (p.Gly36fs)
|
rs1555276160
|
|
NM_052845.4(MMAB):c.197-2del
|
rs1555275604
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)
|
rs1555274493
|
|
NM_052845.4(MMAB):c.583_584+18del
|
rs1555274484
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val)
|
rs1261110148
|
|
NM_054012.4(ASS1):c.1127+1G>A
|
rs1057517402
|
|
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)
|
rs786204460
|
|
NM_054012.4(ASS1):c.1139del (p.Gln380fs)
|
rs1213378896
|
|
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del)
|
rs1554725909
|
|
NM_054012.4(ASS1):c.173dup (p.Val59fs)
|
rs1554982243
|
|
NM_054012.4(ASS1):c.175-1G>A
|
rs1554982809
|
|
NM_054012.4(ASS1):c.1A>G (p.Met1Val)
|
rs750780742
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
NM_054012.4(ASS1):c.226del (p.Ala76fs)
|
rs1057516648
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)
|
rs1554982847
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)
|
rs1057516960
|
|
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del)
|
rs1554983716
|
|
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)
|
rs1057516339
|
|
NM_054012.4(ASS1):c.412dup (p.Gln138fs)
|
rs1554983717
|
|
NM_054012.4(ASS1):c.420+1G>A
|
rs1554983719
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.496-2A>G
|
rs398123130
|
|
NM_054012.4(ASS1):c.559_566+13del
|
rs1554722453
|
|
NM_054012.4(ASS1):c.567-1G>T
|
rs1057517259
|
|
NM_054012.4(ASS1):c.598-2_599dup
|
rs1554723138
|
|
NM_054012.4(ASS1):c.688+1_688+5del
|
rs1554723160
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)
|
rs762387914
|
|
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)
|
rs1554723625
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
NM_054012.4(ASS1):c.961G>A (p.Val321Met)
|
rs727503813
|
|
NM_054012.4(ASS1):c.970+1G>A
|
rs1396766124
|
|
NM_054012.4(ASS1):c.971-1G>A
|
rs1554725033
|
|
NM_054012.4(ASS1):c.978del (p.Trp326fs)
|
rs1057516338
|
|
NM_058195.4(CDKN2A):c.-33G>A
|
rs1057517639
|
|
NM_058195.4(CDKN2A):c.194-3653G>C
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.194-3653G>T
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg)
|
rs1554659236
|
|
NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu)
|
rs374360796
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)
|
rs759149207
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.146-15T>C
|
rs1036386535
|
|
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe)
|
rs1555593653
|
|
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)
|
rs1060502594
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.459T>G (p.Gly153=)
|
rs769486350
|
|
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)
|
rs758029117
|
|
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)
|
rs864622278
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.756A>G (p.Leu252=)
|
rs863224437
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)
|
rs587781574
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)
|
rs1553410995
|
|
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)
|
rs1553410876
|
|
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)
|
rs1553410866
|
|
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
|
rs373908553
|
|
NM_133259.4(LRPPRC):c.1261+2T>C
|
rs1553410852
|
|
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)
|
rs886056058
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)
|
rs1553408603
|
|
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)
|
rs886056057
|
|
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)
|
rs896524026
|
|
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)
|
rs775735922
|
|
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)
|
rs1553406772
|
|
NM_133259.4(LRPPRC):c.1678-2dup
|
rs1553404545
|
|
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)
|
rs750343121
|
|
NM_133259.4(LRPPRC):c.1842+2T>A
|
rs1553404194
|
|
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)
|
rs752914914
|
|
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)
|
rs1391434905
|
|
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)
|
rs1553403993
|
|
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)
|
rs1553403879
|
|
NM_133259.4(LRPPRC):c.2080-1G>C
|
rs1553403596
|
|
NM_133259.4(LRPPRC):c.2296+1G>A
|
rs1553403303
|
|
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)
|
rs746311499
|
|
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)
|
rs1301842578
|
|
NM_133259.4(LRPPRC):c.2505-1G>T
|
rs1553400727
|
|
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)
|
rs1553413047
|
|
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)
|
rs1553400685
|
|
NM_133259.4(LRPPRC):c.2736+1G>T
|
rs1553400391
|
|
NM_133259.4(LRPPRC):c.2737-1G>T
|
rs1553398334
|
|
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)
|
rs1463658772
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)
|
rs1553396232
|
|
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)
|
rs1160846305
|
|
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)
|
rs1300725076
|
|
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)
|
rs1202515342
|
|
NM_133259.4(LRPPRC):c.3148+2C>T
|
rs1553396068
|
|
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)
|
rs1553391303
|
|
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)
|
rs759297611
|
|
NM_133259.4(LRPPRC):c.3986-11_3986-8dup
|
rs764564351
|
|
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)
|
rs1553416989
|
|
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)
|
rs148828179
|
|
NM_133259.4(LRPPRC):c.4128+2T>G
|
rs1553388067
|
|
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)
|
rs1293234237
|
|
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)
|
rs989113962
|
|
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)
|
rs1553411751
|
|
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)
|
rs1553411748
|
|
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)
|
rs760874906
|
|
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)
|
rs774622259
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
NM_138413.4(HOGA1):c.122dup (p.Val42fs)
|
rs1425736036
|
|
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)
|
rs1554872338
|
|
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)
|
rs150702945
|
|
NM_138413.4(HOGA1):c.404del (p.Val135fs)
|
rs1554874148
|
|
NM_138413.4(HOGA1):c.413del (p.Pro138fs)
|
rs777683624
|
|
NM_138413.4(HOGA1):c.448del (p.Leu150fs)
|
rs746776892
|
|
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)
|
rs374327791
|
|
NM_138413.4(HOGA1):c.701-2A>G
|
rs776817346
|
|
NM_138413.4(HOGA1):c.713del (p.Gly238fs)
|
rs760930050
|
|
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)
|
rs886047518
|
|
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter)
|
rs752277936
|
|
NM_138413.4(HOGA1):c.834+1G>A
|
rs749315029
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)
|
rs1554216571
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10156+22398A>G
|
rs1554206689
|
|
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)
|
rs760260903
|
|
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)
|
rs1554183763
|
|
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)
|
rs1057517249
|
|
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)
|
rs756792624
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)
|
rs1057516835
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)
|
rs1057517326
|
|
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val)
|
rs1554183496
|
|
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)
|
rs1554183480
|
|
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del)
|
rs1345766794
|
|
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)
|
rs1554183446
|
|
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe)
|
rs1554183437
|
|
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)
|
rs1554219449
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)
|
rs1554183320
|
|
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)
|
rs1057516652
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr)
|
rs1554183164
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)
|
rs1554183012
|
|
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)
|
rs1554176517
|
|
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
|
|
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)
|
rs1554176343
|
|
NM_138694.4(PKHD1):c.11311-2A>G
|
rs1554174903
|
|
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs)
|
rs1554174796
|
|
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)
|
rs1554169567
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)
|
rs1554167673
|
|
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs)
|
rs1554165849
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.11786-2del
|
rs1554163591
|
|
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del)
|
rs1457757188
|
|
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del)
|
rs1329790948
|
|
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del)
|
rs1554163379
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs)
|
rs1554163298
|
|
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter)
|
rs1554163280
|
|
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)
|
rs745888824
|
|
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs)
|
rs1554163223
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1409del (p.Gly470fs)
|
rs1057516975
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.156dup (p.Asn53fs)
|
rs773991918
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.187_189del (p.Val63del)
|
rs1554228222
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del)
|
rs1554214650
|
|
NM_138694.4(PKHD1):c.2140+1G>C
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+1G>T
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2141-2A>C
|
rs1554212403
|
|
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His)
|
rs150597050
|
|
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del)
|
rs763682158
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs)
|
rs1554211308
|
|
NM_138694.4(PKHD1):c.2408-2A>G
|
rs1554210085
|
|
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del)
|
rs1554209944
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp)
|
rs1307445542
|
|
NM_138694.4(PKHD1):c.2715+1G>C
|
rs1554209188
|
|
NM_138694.4(PKHD1):c.2715+2_2715+14del
|
rs1057516562
|
|
NM_138694.4(PKHD1):c.281+2dup
|
rs1554228127
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.3097+2T>C
|
rs1554207834
|
|
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del)
|
rs1554204118
|
|
NM_138694.4(PKHD1):c.3228+1G>C
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del)
|
rs1554202991
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3561-2A>G
|
rs1057516982
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)
|
rs1554199349
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer)
|
rs1554199226
|
|
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)
|
rs1057516594
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
|
rs1554198717
|
|
NM_138694.4(PKHD1):c.448+2T>C
|
rs1057517270
|
|
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)
|
rs1057516382
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del)
|
rs1554198521
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer)
|
rs1554224707
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile)
|
rs1197981811
|
|
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)
|
rs1057516626
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs)
|
rs1057516885
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
NM_138694.4(PKHD1):c.5236+1G>A
|
rs398124487
|
|
NM_138694.4(PKHD1):c.5236+31_5236+34del
|
rs547420704
|
|
NM_138694.4(PKHD1):c.5237-2A>C
|
rs1554197152
|
|
NM_138694.4(PKHD1):c.527+1del
|
rs1057516697
|
|
NM_138694.4(PKHD1):c.53-2A>G
|
rs1554228601
|
|
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)
|
rs1554197025
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys)
|
rs201906247
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del)
|
rs1554194551
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)
|
rs1057516692
|
|
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer)
|
rs1554194504
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del)
|
rs1554191359
|
|
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs)
|
rs1554191298
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del)
|
rs1554162788
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.603-1G>A
|
rs1554223403
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA
|
rs1057517378
|
|
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs)
|
rs1554134080
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del)
|
rs1554133798
|
|
NM_138694.4(PKHD1):c.6490+1G>A
|
rs1554133736
|
|
NM_138694.4(PKHD1):c.6491-1G>A
|
rs1554132790
|
|
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)
|
rs1057516706
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6866-16_6866del
|
rs1554299291
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del)
|
rs1554299250
|
|
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys)
|
rs776060304
|
|
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)
|
rs1057516441
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.708-1G>A
|
rs1554222508
|
|
NM_138694.4(PKHD1):c.708-2A>C
|
rs753492974
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del)
|
rs1554290053
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)
|
rs1057516596
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7351-21dup
|
rs768522482
|
|
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)
|
rs1037991711
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.7487-5TA[3]
|
rs1554281310
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro)
|
rs778755997
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)
|
rs1057516690
|
|
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)
|
rs1057516607
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)
|
rs1057516490
|
|
NM_138694.4(PKHD1):c.8107+1G>C
|
rs1554270880
|
|
NM_138694.4(PKHD1):c.8107+4555A>G
|
rs207466959
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)
|
rs1057516775
|
|
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr)
|
rs1554263080
|
|
NM_138694.4(PKHD1):c.8303-2A>G
|
rs1554243821
|
|
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly)
|
rs1554243589
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup)
|
rs1554221417
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg)
|
rs781387046
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)
|
rs1057517244
|
|
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly)
|
rs1554220680
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)
|
rs1057517387
|
|
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)
|
rs1554218926
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)
|
rs373241537
|
|
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)
|
rs1057516413
|
|
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)
|
rs1554218519
|
|
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)
|
rs1554218479
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)
|
rs751754608
|
|
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)
|
rs1057517357
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del)
|
rs1553846622
|
|
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)
|
rs1553840713
|
|
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn)
|
rs1553840668
|
|
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp)
|
rs1553840593
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del)
|
rs1553855096
|
|
NM_147127.5(EVC2):c.1471-1G>C
|
rs1553837446
|
|
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)
|
rs772411576
|
|
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169
|
|
NM_147127.5(EVC2):c.1887-1G>A
|
rs1490912913
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs)
|
rs1553855074
|
|
NM_147127.5(EVC2):c.2046+1G>C
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>T
|
rs762947212
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del)
|
rs1553833065
|
|
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del)
|
rs1553832710
|
|
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178
|
|
NM_147127.5(EVC2):c.2830-1G>A
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del)
|
rs775393091
|
|
NM_147127.5(EVC2):c.3057+1G>A
|
rs1307502841
|
|
NM_147127.5(EVC2):c.3058-2A>G
|
rs760066386
|
|
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del)
|
rs774915706
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del)
|
rs1553813318
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del)
|
rs1227016096
|
|
NM_147127.5(EVC2):c.3660-2A>G
|
rs1553811863
|
|
NM_147127.5(EVC2):c.3863del (p.Pro1288fs)
|
rs1553811729
|
|
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)
|
rs752839237
|
|
NM_147127.5(EVC2):c.450+1G>A
|
rs1447633595
|
|
NM_147127.5(EVC2):c.450+1del
|
rs1553852469
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del)
|
rs1553855115
|
|
NM_152419.3(HGSNAT):c.1012+2dup
|
rs1554533241
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.1542+1G>A
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+1G>C
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+2T>G
|
rs1554537613
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter)
|
rs1554538302
|
|
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs)
|
rs1554538306
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln)
|
rs1554529803
|
|
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup)
|
rs1303048852
|
|
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup)
|
rs1554531686
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
NM_152419.3(HGSNAT):c.743+1del
|
rs1554531744
|
|
NM_152419.3(HGSNAT):c.744-2A>G
|
rs762402992
|
|
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys)
|
rs1554532014
|
|
NM_152419.3(HGSNAT):c.851+1G>A
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.852-1G>A
|
rs1447092074
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
|
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)
|
rs1554526454
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10062-2A>G
|
rs1554581156
|
|
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)
|
rs1554625617
|
|
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter)
|
rs1057516437
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del)
|
rs1554581280
|
|
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)
|
rs1554625632
|
|
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del)
|
rs1554581420
|
|
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs)
|
rs1554581430
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.1040del (p.Ser347fs)
|
rs1057516971
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs)
|
rs1554581632
|
|
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)
|
rs1554581676
|
|
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs)
|
rs1057517137
|
|
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)
|
rs1554625693
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)
|
rs1057516274
|
|
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)
|
rs1554561356
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
NM_152564.5(VPS13B):c.10868-2A>C
|
rs745404712
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs)
|
rs1057517202
|
|
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del)
|
rs781133717
|
|
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs)
|
rs1057517376
|
|
NM_152564.5(VPS13B):c.11216-1G>A
|
rs1057517441
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs)
|
rs1554586972
|
|
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)
|
rs1554586994
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>A
|
rs747363890
|
|
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs)
|
rs1057516284
|
|
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup)
|
rs1554588147
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11575del (p.His3859fs)
|
rs1057516651
|
|
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs)
|
rs1057517438
|
|
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter)
|
rs1057517385
|
|
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs)
|
rs1554588477
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs)
|
rs1554588489
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs)
|
rs1554590314
|
|
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del)
|
rs1554590369
|
|
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)
|
rs1236948038
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del)
|
rs1554590420
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
NM_152564.5(VPS13B):c.1187del (p.Lys396fs)
|
rs1554625872
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)
|
rs1554590486
|
|
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs)
|
rs1554590501
|
|
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs)
|
rs1554590506
|
|
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup)
|
rs1554590515
|
|
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs)
|
rs1554590537
|
|
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup)
|
rs1554590552
|
|
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup)
|
rs1554590631
|
|
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs)
|
rs1554590620
|
|
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs)
|
rs1554590636
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.1206+19_1206+34del
|
rs750619814
|
|
NM_152564.5(VPS13B):c.1206+40T>C
|
rs1554625938
|
|
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del)
|
rs1554633843
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)
|
rs1057517319
|
|
NM_152564.5(VPS13B):c.1563+1G>A
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.1669del (p.Asp557fs)
|
rs1057517283
|
|
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)
|
rs1057517338
|
|
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del)
|
rs1554645561
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2268del (p.Val757fs)
|
rs1057516532
|
|
NM_152564.5(VPS13B):c.2333+2T>C
|
rs1554652265
|
|
NM_152564.5(VPS13B):c.2334-2A>G
|
rs1554665974
|
|
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)
|
rs1057516681
|
|
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)
|
rs1554666009
|
|
NM_152564.5(VPS13B):c.2515+16596_2515+16608del
|
rs1554674064
|
|
NM_152564.5(VPS13B):c.2515+16609T>G
|
rs1554674081
|
|
NM_152564.5(VPS13B):c.2515+37177T>C
|
rs207469599
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)
|
rs1554706149
|
|
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys)
|
rs1554706171
|
|
NM_152564.5(VPS13B):c.2650+1G>A
|
rs1554706285
|
|
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)
|
rs1554706662
|
|
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)
|
rs1057517255
|
|
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)
|
rs1554765140
|
|
NM_152564.5(VPS13B):c.2855del (p.Leu952fs)
|
rs1554765173
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)
|
rs1554767735
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)
|
rs1057516834
|
|
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)
|
rs1554788238
|
|
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)
|
rs1057516926
|
|
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)
|
rs1057517447
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)
|
rs1554793521
|
|
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del)
|
rs1554793589
|
|
NM_152564.5(VPS13B):c.3445+1G>T
|
rs1034855385
|
|
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys)
|
rs1554806874
|
|
NM_152564.5(VPS13B):c.3666+1G>T
|
rs1554807146
|
|
NM_152564.5(VPS13B):c.3666+2T>A
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)
|
rs1554814271
|
|
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)
|
rs184693266
|
|
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)
|
rs1057516422
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.4042+2T>C
|
rs1554822819
|
|
NM_152564.5(VPS13B):c.412+1G>A
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.4158-16A>C
|
rs1554824637
|
|
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=)
|
rs1554824647
|
|
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr)
|
rs1554824649
|
|
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala)
|
rs1554824675
|
|
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs)
|
rs1554824678
|
|
NM_152564.5(VPS13B):c.4224+1G>C
|
rs376982982
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
NM_152564.5(VPS13B):c.4224+725A>T
|
rs1554825046
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del)
|
rs1554826499
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4746-2A>T
|
rs1554843814
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs)
|
rs1554843942
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.4950-2dup
|
rs1554852944
|
|
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del)
|
rs770497996
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs)
|
rs1554853676
|
|
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)
|
rs1554884575
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer)
|
rs1554884932
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.5909-1G>T
|
rs1057516694
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6047-1G>A
|
rs750092574
|
|
NM_152564.5(VPS13B):c.6047-5_6047del
|
rs1057516841
|
|
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs)
|
rs1554911430
|
|
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs)
|
rs1554911481
|
|
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter)
|
rs1057516331
|
|
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)
|
rs1057516489
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6454+1G>C
|
rs1235993153
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter)
|
rs1057516663
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs)
|
rs1057516302
|
|
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs)
|
rs1554924412
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter)
|
rs1057516660
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs)
|
rs1554952467
|
|
NM_152564.5(VPS13B):c.7396del (p.His2466fs)
|
rs1554952554
|
|
NM_152564.5(VPS13B):c.7429+2T>C
|
rs1057517393
|
|
NM_152564.5(VPS13B):c.7941+1G>A
|
rs1554955952
|
|
NM_152564.5(VPS13B):c.7941+20_7941+42del
|
rs769286340
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs)
|
rs1554560668
|
|
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del)
|
rs1554560677
|
|
NM_152564.5(VPS13B):c.803del (p.Asp268fs)
|
rs1554622622
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs)
|
rs1554565537
|
|
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs)
|
rs1554565558
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8445+2T>C
|
rs1554566396
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del)
|
rs1554566693
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.8621+2T>G
|
rs1057517236
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT
|
rs756641209
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs)
|
rs1057516845
|
|
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)
|
rs1554622718
|
|
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter)
|
rs1057516558
|
|
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs)
|
rs1057516276
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=)
|
rs267601673
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9614+1G>T
|
rs1057517168
|
|
NM_152564.5(VPS13B):c.9615-2A>C
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.9742+1G>T
|
rs759374475
|
|
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs)
|
rs768801125
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs)
|
rs1057516568
|
|
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs)
|
rs1057516614
|
|
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs)
|
rs1554575679
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|
NM_152618.3(BBS12):c.*484A>G
|
rs886059060
|
|
NM_152618.3(BBS12):c.*854C>A
|
rs886059061
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del)
|
rs1553941372
|
|
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr)
|
rs1553941373
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del)
|
rs1553941469
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1507G>A (p.Val503Met)
|
rs374865012
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)
|
rs1490785954
|
|
NM_152618.3(BBS12):c.1795del (p.Leu599fs)
|
rs1553941540
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.2074dup (p.Thr692fs)
|
rs1553941623
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)
|
rs1553941223
|
|
NM_152618.3(BBS12):c.29_31del (p.Lys10del)
|
rs1553941158
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
NM_152618.3(BBS12):c.343_345del (p.Val115del)
|
rs1553941232
|
|
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)
|
rs1553941255
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.568dup (p.Ser190fs)
|
rs1553941279
|
|
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)
|
rs1553941287
|
|
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr)
|
rs879118135
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])
|
rs1554957867
|
|
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)
|
rs148115969
|
|
NM_153676.4(USH1C):c.1413+2T>C
|
rs1344670523
|
|
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup)
|
rs777764626
|
|
NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167
|
|
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)
|
rs758580540
|
|
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs)
|
rs1554957020
|
|
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del)
|
rs1175090344
|
|
NM_153676.4(USH1C):c.1806del (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1806dup (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1807dup (p.Ile603fs)
|
rs1554956941
|
|
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter)
|
rs1554956913
|
|
NM_153676.4(USH1C):c.1840del (p.Gln614fs)
|
rs1554956916
|
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757
|
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084_1086del (p.Glu362del)
|
rs1553873980
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1252_1254del (p.Lys418del)
|
rs1553875708
|
|
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del)
|
rs1553875724
|
|
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])
|
rs1553857987
|
|
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)
|
rs1553875733
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1464+20T>C
|
rs886038740
|
|
NM_153717.3(EVC):c.1465-3_1472del
|
rs1300178432
|
|
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)
|
rs1553876813
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del)
|
rs764533114
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)
|
rs1553891170
|
|
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)
|
rs1553891205
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)
|
rs1553891884
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup)
|
rs1553893407
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2561+12_2561+23del
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC
|
rs1553895769
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2842dup (p.Val948fs)
|
rs1553896459
|
|
NM_153717.3(EVC):c.2893dup (p.Ser965fs)
|
rs1553896497
|
|
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)
|
rs1553896708
|
|
NM_153717.3(EVC):c.2920del (p.Ser974fs)
|
rs1370417156
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)
|
rs1553865272
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)
|
rs1553857864
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)
|
rs1553857901
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)
|
rs1278946084
|
|
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)
|
rs1232712590
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)
|
rs1553857904
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)
|
rs1229967881
|
|
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)
|
rs1553959122
|
|
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)
|
rs999844958
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)
|
rs1553957862
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.1A>G (p.Met1Val)
|
rs1553957856
|
|
NM_172250.3(MMAA):c.206del (p.Thr69fs)
|
rs1553957901
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)
|
rs1553958153
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.562+1G>T
|
rs869320656
|
|
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)
|
rs1553958395
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)
|
rs1553958720
|
|
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)
|
rs751717131
|
|
NM_172250.3(MMAA):c.970-2A>T
|
rs1553959113
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)
|
rs1553776061
|
|
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)
|
rs1553776052
|
|
NM_174878.3(CLRN1):c.254-2081G>A
|
rs780023517
|
|
NM_174878.3(CLRN1):c.254-2099_254-2086del
|
rs1553772861
|
|
NM_174878.3(CLRN1):c.254-2189dup
|
rs1553772899
|
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.336C>G (p.Thr112=)
|
rs565400473
|
|
NM_174878.3(CLRN1):c.372del (p.Phe124fs)
|
rs1553772595
|
|
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)
|
rs1553776132
|
|
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3]
|
rs768093614
|
|
NM_174878.3(CLRN1):c.433+1102G>T
|
rs1553772414
|
|
NM_174878.3(CLRN1):c.433+2dup
|
rs1057516687
|
|
NM_174878.3(CLRN1):c.456_458del (p.Met152del)
|
rs1553770929
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)
|
rs1554076325
|
|
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)
|
rs772489808
|
|
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter)
|
rs986500427
|
|
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)
|
rs1057517363
|
|
NM_183050.4(BCKDHB):c.*13G>A
|
rs398124559
|
|
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs)
|
rs1582146275
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs)
|
rs1057517414
|
|
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)
|
rs1554181192
|
|
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs)
|
rs1057516781
|
|
NM_183050.4(BCKDHB):c.196+1G>C
|
rs1554181203
|
|
NM_183050.4(BCKDHB):c.196+1G>T
|
rs1554181203
|
|
NM_183050.4(BCKDHB):c.275-2A>G
|
rs1554184224
|
|
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)
|
rs1380402024
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)
|
rs940391887
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.343+2T>G
|
rs1554184237
|
|
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs)
|
rs1554189447
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr)
|
rs1554189815
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu)
|
rs1554189861
|
|
NM_183050.4(BCKDHB):c.633+1G>C
|
rs398124589
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)
|
rs994415333
|
|
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)
|
rs1057516572
|
|
NM_183050.4(BCKDHB):c.742+1G>A
|
rs1554190322
|
|
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)
|
rs1554194690
|
|
NM_183050.4(BCKDHB):c.840+1G>A
|
rs760538465
|
|
NM_183050.4(BCKDHB):c.840+1G>T
|
rs760538465
|
|
NM_183050.4(BCKDHB):c.840+2T>G
|
rs398124596
|
|
NM_183050.4(BCKDHB):c.841-1G>C
|
rs962489830
|
|
NM_183050.4(BCKDHB):c.853del (p.Arg285fs)
|
rs1057517124
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His)
|
rs1246984003
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.951+27209A>G
|
rs207467187
|
|
NM_183050.4(BCKDHB):c.952-16_952-15del
|
rs890103324
|
|
NM_183050.4(BCKDHB):c.952-2A>G
|
rs1554205499
|
|
NM_183050.4(BCKDHB):c.964del (p.Thr322fs)
|
rs1554205506
|
|
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)
|
rs398124604
|
|
NM_183050.4(BCKDHB):c.97del (p.Arg33fs)
|
rs1057516731
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter)
|
rs1344062987
|
|
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter)
|
rs1555698689
|
|
NM_198129.4(LAMA3):c.1741+2T>C
|
rs1555698735
|
|
NM_198129.4(LAMA3):c.18del (p.Pro7fs)
|
rs1555670401
|
|
NM_198129.4(LAMA3):c.1941+1del
|
rs1555700047
|
|
NM_198129.4(LAMA3):c.1942-2A>C
|
rs1555700119
|
|
NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs)
|
rs1555701549
|
|
NM_198129.4(LAMA3):c.2305-2A>G
|
rs1555702265
|
|
NM_198129.4(LAMA3):c.2428+1G>A
|
rs375558120
|
|
NM_198129.4(LAMA3):c.2572-2A>G
|
rs1555703785
|
|
NM_198129.4(LAMA3):c.2823+1G>A
|
rs1555704210
|
|
NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter)
|
rs755080322
|
|
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter)
|
rs550140177
|
|
NM_198129.4(LAMA3):c.3093+1G>A
|
rs1392528129
|
|
NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs)
|
rs1555708032
|
|
NM_198129.4(LAMA3):c.3336+1G>A
|
rs1555708549
|
|
NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter)
|
rs767385840
|
|
NM_198129.4(LAMA3):c.3463+1G>A
|
rs1555709710
|
|
NM_198129.4(LAMA3):c.3719+3_3719+6del
|
rs1436285030
|
|
NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter)
|
rs374897016
|
|
NM_198129.4(LAMA3):c.394del (p.Leu132fs)
|
rs887748208
|
|
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs)
|
rs747355586
|
|
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs)
|
rs1555712024
|
|
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs)
|
rs1555715208
|
|
NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter)
|
rs752265207
|
|
NM_198129.4(LAMA3):c.4422+1G>A
|
rs1016415773
|
|
NM_198129.4(LAMA3):c.4501del (p.Ser1501fs)
|
rs1555716726
|
|
NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs)
|
rs1555716754
|
|
NM_198129.4(LAMA3):c.4768-2A>G
|
rs1555719747
|
|
NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del)
|
rs1555719776
|
|
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter)
|
rs1555719813
|
|
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs)
|
rs1598965457
|
|
NM_198129.4(LAMA3):c.4974del (p.Ala1659fs)
|
rs767394785
|
|
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)
|
rs752030611
|
|
NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup)
|
rs1555721786
|
|
NM_198129.4(LAMA3):c.5112+1G>A
|
rs1057517023
|
|
NM_198129.4(LAMA3):c.5112+1G>T
|
rs1057517023
|
|
NM_198129.4(LAMA3):c.5112+2T>G
|
rs1555721815
|
|
NM_198129.4(LAMA3):c.5152del (p.Cys1718fs)
|
rs1057517235
|
|
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)
|
rs1555724066
|
|
NM_198129.4(LAMA3):c.5205del (p.Cys1736fs)
|
rs1057517367
|
|
NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly)
|
rs1555724108
|
|
NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA
|
rs1555728297
|
|
NM_198129.4(LAMA3):c.5461+1G>A
|
rs1555728319
|
|
NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs)
|
rs1555728701
|
|
NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup)
|
rs1555728685
|
|
NM_198129.4(LAMA3):c.566-1G>A
|
rs776632604
|
|
NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter)
|
rs1057517314
|
|
NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter)
|
rs1555730209
|
|
NM_198129.4(LAMA3):c.5836+2T>C
|
rs1057516584
|
|
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter)
|
rs1555683785
|
|
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer)
|
rs1057516688
|
|
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs)
|
rs1555731178
|
|
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)
|
rs1158945258
|
|
NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter)
|
rs1555732032
|
|
NM_198129.4(LAMA3):c.6318+2T>C
|
rs1057516280
|
|
NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs)
|
rs1555732431
|
|
NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter)
|
rs1555732528
|
|
NM_198129.4(LAMA3):c.6505del (p.Val2169fs)
|
rs1057516476
|
|
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del)
|
rs1555732875
|
|
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs)
|
rs1555732939
|
|
NM_198129.4(LAMA3):c.6616-13G>T
|
rs886053672
|
|
NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs)
|
rs1057517196
|
|
NM_198129.4(LAMA3):c.6719-2A>G
|
rs1555734356
|
|
NM_198129.4(LAMA3):c.6836-2A>G
|
rs1555734513
|
|
NM_198129.4(LAMA3):c.6836-36_6836-16del
|
rs1555734493
|
|
NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter)
|
rs765104557
|
|
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter)
|
rs1555735252
|
|
NM_198129.4(LAMA3):c.7165del (p.Val2389fs)
|
rs1555736532
|
|
NM_198129.4(LAMA3):c.7219del (p.Leu2407fs)
|
rs1555736608
|
|
NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs)
|
rs1555737473
|
|
NM_198129.4(LAMA3):c.734del (p.Phe245fs)
|
rs1555684238
|
|
NM_198129.4(LAMA3):c.7352del (p.Met2451fs)
|
rs1555737509
|
|
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu)
|
rs1085308017
|
|
NM_198129.4(LAMA3):c.7461_7481+17del
|
rs1555737629
|
|
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter)
|
rs1555737779
|
|
NM_198129.4(LAMA3):c.7677del (p.Gly2560fs)
|
rs1057516605
|
|
NM_198129.4(LAMA3):c.7820del (p.Gly2607fs)
|
rs1356353167
|
|
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)
|
rs768415785
|
|
NM_198129.4(LAMA3):c.8004_8005del (p.Gly2669fs)
|
rs1303193834
|
|
NM_198129.4(LAMA3):c.8043+2T>C
|
rs1555740717
|
|
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter)
|
rs1555740945
|
|
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs)
|
rs1555740963
|
|
NM_198129.4(LAMA3):c.8292G>A (p.Trp2764Ter)
|
rs1555743454
|
|
NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter)
|
rs1057516764
|
|
NM_198129.4(LAMA3):c.856-2A>G
|
rs757101344
|
|
NM_198129.4(LAMA3):c.8576+1G>A
|
rs1555744805
|
|
NM_198129.4(LAMA3):c.8576+2T>G
|
rs1555744812
|
|
NM_198129.4(LAMA3):c.8626_8627insC (p.Lys2876fs)
|
rs1555745207
|
|
NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs)
|
rs1555745263
|
|
NM_198129.4(LAMA3):c.8708+1G>T
|
rs754558574
|
|
NM_198129.4(LAMA3):c.8708+2T>G
|
rs1555745317
|
|
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter)
|
rs1401574168
|
|
NM_198129.4(LAMA3):c.8827del (p.Arg2943fs)
|
rs1555746079
|
|
NM_198129.4(LAMA3):c.8891dup (p.Arg2965fs)
|
rs34754160
|
|
NM_198129.4(LAMA3):c.8971dup (p.Asp2991fs)
|
rs1057517211
|
|
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter)
|
rs1555751423
|
|
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter)
|
rs771405735
|
|
NM_198129.4(LAMA3):c.9176del (p.Ser3059fs)
|
rs1555751482
|
|
NM_198129.4(LAMA3):c.9202del (p.Trp3068fs)
|
rs1555751529
|
|
NM_198129.4(LAMA3):c.9293CCA[1] (p.Thr3099del)
|
rs1555752733
|
|
NM_198129.4(LAMA3):c.9352-1G>C
|
rs1057517272
|
|
NM_198129.4(LAMA3):c.938del (p.Pro313fs)
|
rs1555684952
|
|
NM_198129.4(LAMA3):c.9400del (p.Asp3134fs)
|
rs1555754450
|
|
NM_198129.4(LAMA3):c.9512-11T>C
|
rs776372744
|
|
NM_198129.4(LAMA3):c.9512-1G>T
|
rs1555754655
|
|
NM_198129.4(LAMA3):c.9575del (p.Thr3192fs)
|
rs1057517440
|
|
NM_198129.4(LAMA3):c.9597_9599dup (p.Gly3199_Ser3200insArg)
|
rs750402445
|
|
NM_198129.4(LAMA3):c.9736+1G>C
|
rs1234435123
|
|
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs)
|
rs1555756067
|
|
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs)
|
rs1555756775
|
|
NM_199292.2(TH):c.-69T>A
|
rs1554924394
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys)
|
rs1553250638
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)
|
rs1553248832
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del)
|
rs1553250409
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1722T>G (p.Pro574=)
|
rs397518002
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
|
rs1553320498
|
|
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2775T>C (p.Asn925=)
|
rs779331611
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3158-47_3158-17del
|
rs1553315049
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
|
rs773595155
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
|
rs1553310736
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=)
|
rs876657629
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6806-9473C>A
|
rs207461105
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
|
rs1553274535
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe)
|
rs1205473124
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NR_003051.3(RMRP):n.-10_-5dup6
|
rs1554651437
|
|
NR_003051.3(RMRP):n.-11_-2dup10
|
rs1587919129
|
|
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA
|
rs1554651425
|
|
NR_003051.3(RMRP):n.-13_-2dup
|
rs1554651400
|
|
NR_003051.3(RMRP):n.-13_-4dup10
|
rs1554651424
|
|
NR_003051.3(RMRP):n.-14_-13dupGA
|
rs1554651511
|
|
NR_003051.3(RMRP):n.-15_-14delTG
|
rs1554651515
|
|
NR_003051.3(RMRP):n.-17_-15dupTGT
|
rs1554651531
|
|
NR_003051.3(RMRP):n.-18_-17dup
|
rs1554651536
|
|
NR_003051.3(RMRP):n.-18_-17ins14
|
rs1554651544
|
|
NR_003051.3(RMRP):n.-18_-1dup
|
rs1554651396
|
|
NR_003051.3(RMRP):n.-18_-2dup17
|
rs1587919165
|
|
NR_003051.3(RMRP):n.-18_-7dup12
|
rs1554651466
|
|
NR_003051.3(RMRP):n.-18_-8dup11
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-18_-9dup10
|
rs1554651481
|
|
NR_003051.3(RMRP):n.-19_1dup20
|
rs1554651382
|
|
NR_003051.3(RMRP):n.-1_1ins16
|
rs1554651395
|
|
NR_003051.3(RMRP):n.-1_1ins21
|
rs1218494857
|
|
NR_003051.3(RMRP):n.-1_1ins22
|
rs1554651397
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-20_-13dup
|
rs1554651512
|
|
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC
|
rs1554651469
|
|
NR_003051.3(RMRP):n.-20_-3dup
|
rs1554651418
|
|
NR_003051.3(RMRP):n.-21_-12dup10
|
rs1554651503
|
|
NR_003051.3(RMRP):n.-21_-17dup5
|
rs1472119885
|
|
NR_003051.3(RMRP):n.-21_-19dup
|
rs1029136594
|
|
NR_003051.3(RMRP):n.-21_-6dup16
|
rs1554651451
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-23_-13dup
|
rs1554651513
|
|
NR_003051.3(RMRP):n.-23_-14dup10
|
rs1554651524
|
|
NR_003051.3(RMRP):n.-23_-7dup17
|
rs920074067
|
|
NR_003051.3(RMRP):n.-24_-10dup
|
rs727502776
|
|
NR_003051.3(RMRP):n.-24_-15dup10
|
rs1554651532
|
|
NR_003051.3(RMRP):n.-24_-18dup
|
rs1554651543
|
|
NR_003051.3(RMRP):n.-24_-3dup22
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-25_-12dup
|
rs1554651499
|
|
NR_003051.3(RMRP):n.-25_-14dup12
|
rs1554651526
|
|
NR_003051.3(RMRP):n.-25_-24delTA
|
rs1160072325
|
|
NR_003051.3(RMRP):n.-26_-10dup
|
rs1554651491
|
|
NR_003051.3(RMRP):n.-29_-23del7
|
rs1554651555
|
|
NR_003051.3(RMRP):n.-30_-21del10
|
rs1554651552
|
|
NR_003051.3(RMRP):n.-3_-2ins20
|
rs1554651405
|
|
NR_003051.3(RMRP):n.-4A>G
|
rs555890962
|
|
NR_003051.3(RMRP):n.-50delA
|
rs1168028338
|
|
NR_003051.3(RMRP):n.-50dupA
|
rs1168028338
|
|
NR_003051.3(RMRP):n.-54T>A
|
rs181777676
|
|
NR_003051.3(RMRP):n.-55delA
|
rs1554651600
|
|
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA
|
rs1554651593
|
|
NR_003051.3(RMRP):n.-5_6dup11
|
rs1554651348
|
|
NR_003051.3(RMRP):n.-73_-71delCCA
|
rs1587920033
|
|
NR_003051.3(RMRP):n.-7_-6ins16
|
rs1554651461
|
|
NR_003051.3(RMRP):n.-7_1dup
|
rs752934195
|
|
NR_003051.3(RMRP):n.-7_2dup9
|
rs1554651365
|
|
NR_003051.3(RMRP):n.-8_-7ins15
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-8_-7ins20
|
rs1554651471
|
|
NR_003051.3(RMRP):n.146C>T
|
rs757576534
|
|
NR_003051.3(RMRP):n.147G>A
|
rs753874439
|
|
NR_003051.3(RMRP):n.1_2ins13
|
rs1554651368
|
|
NR_003051.3(RMRP):n.2_3ins15
|
rs1554651364
|
|
NR_003051.3(RMRP):n.3_4ins10
|
rs759665242
|
|
NR_003051.4(RMRP):n.101C>T
|
rs536333075
|
|
NR_003051.4(RMRP):n.116_117insCC
|
rs1554651212
|
|
NR_003051.4(RMRP):n.125_126dup
|
rs1554651193
|
|
NR_003051.4(RMRP):n.13_14insT
|
rs1554651339
|
|
NR_003051.4(RMRP):n.141dup
|
rs1554651181
|
|
NR_003051.4(RMRP):n.149C>T
|
rs1085307765
|
|
NR_003051.4(RMRP):n.154A>C
|
rs1428585182
|
|
NR_003051.4(RMRP):n.154A>G
|
rs1428585182
|
|
NR_003051.4(RMRP):n.156G>T
|
rs752709977
|
|
NR_003051.4(RMRP):n.178_179GC[3]
|
rs1554651154
|
|
NR_003051.4(RMRP):n.184G>A
|
rs1554651153
|
|
NR_003051.4(RMRP):n.184G>T
|
rs1554651153
|
|
NR_003051.4(RMRP):n.196_204delTCAGCTCCC
|
rs1554651129
|
|
NR_003051.4(RMRP):n.235_238ACCA[1]
|
rs1554651108
|
|
NR_003051.4(RMRP):n.237_242delCAACCA
|
rs1554651106
|
|
NR_003051.4(RMRP):n.238A>C
|
rs771464779
|
|
NR_003051.4(RMRP):n.244A>C
|
rs551450545
|
|
NR_003051.4(RMRP):n.245C>T
|
rs1260135124
|
|
NR_003051.4(RMRP):n.250C>T
|
rs1554651104
|
|
NR_003051.4(RMRP):n.256C>A
|
rs1170858087
|
|
NR_003051.4(RMRP):n.25_43del19
|
rs1554651292
|
|
NR_003051.4(RMRP):n.2_6dup
|
rs1554651347
|
|
NR_003051.4(RMRP):n.37_38delCT
|
rs1554651307
|
|
NR_003051.4(RMRP):n.45delT
|
rs1554651291
|
|
NR_003051.4(RMRP):n.52C>T
|
rs1064793373
|
|
NR_003051.4(RMRP):n.66T>A
|
rs1357036842
|
|
NR_003051.4(RMRP):n.71_72dup
|
rs1554651256
|
|
NR_003051.4(RMRP):n.73A>G
|
rs1554651251
|
|
NR_003051.4(RMRP):n.99_101delGCC
|
rs1554651230
|
|
Single allele
|
|
|