NM_002253.4(KDR):c.3848+15T>C
|
rs2412617
|
0.99680
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=)
|
rs2257495
|
0.98384
|
NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_003002.4(SDHD):c.*613T>C
|
rs693441
|
0.93280
|
NM_153490.3(KRT13):c.892A>G (p.Thr298Ala)
|
rs4796697
|
0.91638
|
NM_153490.3(KRT13):c.114C>T (p.Ser38=)
|
rs8182306
|
0.87031
|
NM_020975.6(RET):c.3187+47T>C
|
rs2075912
|
0.84041
|
NM_002272.4(KRT4):c.1346+15A>G
|
rs931479
|
0.83879
|
NM_153490.3(KRT13):c.735+10A>G
|
rs7211835
|
0.83623
|
NM_002272.4(KRT4):c.678-14G>A
|
rs2307027
|
0.83484
|
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
NM_020975.6(RET):c.*1506G>A
|
rs2742241
|
0.83094
|
NM_005401.5(PTPN14):c.-26G>A
|
rs10864100
|
0.83031
|
NM_002272.4(KRT4):c.*269A>G
|
rs2035879
|
0.82793
|
NM_005401.5(PTPN14):c.2688+26C>T
|
rs3013451
|
0.82386
|
NM_005401.5(PTPN14):c.978A>G (p.Arg326=)
|
rs7550799
|
0.82382
|
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=)
|
rs1135352
|
0.81332
|
NM_153490.3(KRT13):c.897+6C>T
|
rs4796698
|
0.81266
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_020630.5(RET):c.-200A>G
|
rs10900296
|
0.77447
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_153490.3(KRT13):c.560C>T (p.Ala187Val)
|
rs9891361
|
0.71565
|
NM_153490.3(KRT13):c.*171G>T
|
rs903
|
0.68196
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_017849.4(TMEM127):c.*1958A>C
|
rs7058
|
0.56373
|
NM_015074.3(KIF1B):c.*5019T>C
|
rs3748581
|
0.53815
|
NM_002382.5(MAX):c.*587G>A
|
rs1957949
|
0.52668
|
NM_002272.4(KRT4):c.215C>T (p.Ala72Val)
|
rs2638525
|
0.51489
|
NM_003000.3(SDHB):c.642+325C>T
|
rs2235930
|
0.51227
|
NM_002382.5(MAX):c.*565G>A
|
rs1957948
|
0.48891
|
NM_002382.5(MAX):c.*1127G>C
|
rs4902357
|
0.48713
|
NM_002382.5(MAX):c.*404C>T
|
rs4902359
|
0.48552
|
NM_032208.3(ANTXR1):c.1185+16C>A
|
rs6749826
|
0.45542
|
NM_020975.5(RET):c.-196C>A
|
rs10900297
|
0.41632
|
NM_002609.4(PDGFRB):c.3137+4A>G
|
rs246391
|
0.38064
|
NM_020975.6(RET):c.867+48A>G
|
rs2435352
|
0.37996
|
NM_005401.5(PTPN14):c.758+5T>G
|
rs11580603
|
0.37880
|
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)
|
rs246388
|
0.36918
|
NM_002272.4(KRT4):c.467A>G (p.Gln156Arg)
|
rs7959052
|
0.28838
|
NM_002382.5(MAX):c.*717T>C
|
rs4902358
|
0.27135
|
NM_002382.5(MAX):c.*92G>A
|
rs45604339
|
0.26844
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)
|
rs246395
|
0.26470
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_004168.3(SDHA):c.-115T>C
|
rs2303741
|
0.25160
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_020975.6(RET):c.*1116T>C
|
rs2435355
|
0.22170
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_020975.6(RET):c.2712C>G (p.Ser904=)
|
rs1800863
|
0.17043
|
NM_020975.6(RET):c.*388G>A
|
rs3026782
|
0.17032
|
NM_020975.6(RET):c.*95C>T
|
rs17028
|
0.16697
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_005401.5(PTPN14):c.*26G>A
|
rs2291831
|
0.15689
|
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)
|
rs3852673
|
0.13717
|
NM_004897.5(MINPP1):c.933+34T>A
|
rs41299159
|
0.12000
|
NM_003001.4(SDHC):c.*1181_*1182insA
|
rs34067216
|
0.11567
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_003002.4(SDHD):c.*803A>G
|
rs17113461
|
0.10714
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)
|
rs2228440
|
0.09078
|
NM_153490.3(KRT13):c.437C>G (p.Ala146Gly)
|
rs760134
|
0.07279
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_153490.3(KRT13):c.*170C>T
|
rs3169911
|
0.05973
|
NM_020975.6(RET):c.*1969T>C
|
rs3026785
|
0.04255
|
NM_003002.4(SDHD):c.*260T>A
|
rs149570245
|
0.04112
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_020975.6(RET):c.*1591G>A
|
rs76759170
|
0.03751
|
NM_002272.4(KRT4):c.1381+15C>T
|
rs7952923
|
0.03297
|
NM_017849.4(TMEM127):c.*338G>A
|
rs13022177
|
0.03241
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_002272.4(KRT4):c.261T>A (p.Gly87=)
|
rs74445207
|
0.02489
|
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)
|
rs56072663
|
0.02433
|
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)
|
rs34231037
|
0.02299
|
NM_153490.3(KRT13):c.204C>A (p.Gly68=)
|
rs113547405
|
0.02087
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu)
|
rs72478580
|
0.01896
|
NM_153490.3(KRT13):c.736-7C>G
|
rs34367942
|
0.01881
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01547
|
NM_153490.3(KRT13):c.384C>T (p.Ala128=)
|
rs149623369
|
0.01541
|
NM_017849.4(TMEM127):c.*1301T>C
|
rs3770239
|
0.01488
|
NM_002382.5(MAX):c.*603C>G
|
rs117802316
|
0.01457
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_003002.4(SDHD):c.*532A>T
|
rs146261846
|
0.01251
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
NM_002272.4(KRT4):c.*133C>T
|
rs78282727
|
0.01188
|
NM_133171.5(ELMO2):c.963G>A (p.Arg321=)
|
rs41310805
|
0.01127
|
NM_002272.4(KRT4):c.122G>A (p.Arg41Gln)
|
rs36143766
|
0.01050
|
NM_002272.4(KRT4):c.678-3C>T
|
rs73306189
|
0.01050
|
NM_002272.4(KRT4):c.404C>T (p.Thr135Met)
|
rs17119475
|
0.01042
|
NM_002272.4(KRT4):c.267T>C (p.Phe89=)
|
rs372168510
|
0.01016
|
NM_002272.4(KRT4):c.288G>A (p.Lys96=)
|
rs372013854
|
0.00989
|
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)
|
rs56078873
|
0.00930
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_153490.3(KRT13):c.177T>C (p.Ser59=)
|
rs142246675
|
0.00900
|
NM_017849.4(TMEM127):c.*2086C>T
|
rs13418193
|
0.00895
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)
|
rs17708515
|
0.00869
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_002382.5(MAX):c.*405G>A
|
rs45440292
|
0.00825
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)
|
rs17175898
|
0.00782
|
NM_002382.5(MAX):c.-100T>G
|
rs111941208
|
0.00769
|
NM_017849.4(TMEM127):c.*1163C>T
|
rs11691019
|
0.00769
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_017849.4(TMEM127):c.*50C>T
|
rs72937654
|
0.00712
|
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)
|
rs56341011
|
0.00711
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_003002.4(SDHD):c.*622A>G
|
rs142510105
|
0.00694
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_017849.4(TMEM127):c.*2012C>T
|
rs149122699
|
0.00641
|
NM_020975.6(RET):c.*330A>G
|
rs141460872
|
0.00640
|
NM_002609.4(PDGFRB):c.365-4G>T
|
rs139448702
|
0.00583
|
NM_020975.6(RET):c.*1870C>T
|
rs146771196
|
0.00539
|
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)
|
rs149417689
|
0.00523
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_153490.3(KRT13):c.735+6C>T
|
rs181122697
|
0.00469
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His)
|
rs149274963
|
0.00426
|
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)
|
rs116171826
|
0.00425
|
NM_002272.4(KRT4):c.456C>T (p.Ile152=)
|
rs140582332
|
0.00421
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_002382.5(MAX):c.-94G>C
|
rs536235832
|
0.00379
|
NM_002272.4(KRT4):c.870G>A (p.Thr290=)
|
rs189596654
|
0.00376
|
NM_017849.4(TMEM127):c.*1306C>T
|
rs148119945
|
0.00371
|
NM_020975.6(RET):c.*1742G>A
|
rs143369221
|
0.00349
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_017849.4(TMEM127):c.-87C>T
|
rs527792197
|
0.00319
|
NM_003002.4(SDHD):c.*186A>G
|
rs183918321
|
0.00317
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)
|
rs116642123
|
0.00302
|
NM_020975.6(RET):c.*1583G>A
|
rs192065891
|
0.00300
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_002272.4(KRT4):c.*81T>A
|
rs572216995
|
0.00279
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_020975.6(RET):c.*1599G>A
|
rs145954635
|
0.00265
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=)
|
rs8124302
|
0.00264
|
NM_002382.5(MAX):c.*461C>T
|
rs183428804
|
0.00262
|
NM_020975.6(RET):c.*1558A>C
|
rs142572876
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)
|
rs139807657
|
0.00253
|
NM_003001.4(SDHC):c.*1693G>A
|
rs191417790
|
0.00250
|
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)
|
rs56069016
|
0.00247
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_002272.4(KRT4):c.623G>A (p.Arg208His)
|
rs201795280
|
0.00223
|
NM_020975.6(RET):c.*1812C>A
|
rs183817000
|
0.00220
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
NM_020975.6(RET):c.337+12G>A
|
rs200468424
|
0.00198
|
NM_003001.5(SDHC):c.*397G>A
|
rs74124906
|
0.00189
|
NM_003001.5(SDHC):c.*518G>A
|
rs375109418
|
0.00189
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_002272.4(KRT4):c.205C>T (p.Arg69Ter)
|
rs200860840
|
0.00183
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_017849.4(TMEM127):c.*2498C>T
|
rs191565203
|
0.00173
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
NM_017849.4(TMEM127):c.*2845T>G
|
rs182729595
|
0.00168
|
NM_002609.4(PDGFRB):c.1872T>C (p.His624=)
|
rs141371542
|
0.00166
|
NM_017849.4(TMEM127):c.*1233C>T
|
rs536712285
|
0.00162
|
NM_002272.4(KRT4):c.*68C>T
|
rs149040467
|
0.00159
|
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)
|
rs148974733
|
0.00159
|
NM_000142.5(FGFR3):c.1959+15G>C
|
rs17886888
|
0.00158
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_003002.4(SDHD):c.*369A>G
|
rs200753024
|
0.00157
|
NM_153490.3(KRT13):c.1276G>A (p.Val426Ile)
|
rs144967807
|
0.00157
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
NM_017849.4(TMEM127):c.*2300G>A
|
rs117655540
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_003002.4(SDHD):c.*352C>G
|
rs192900956
|
0.00137
|
NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys)
|
rs192699667
|
0.00134
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_002272.4(KRT4):c.1080G>A (p.Arg360=)
|
rs113928381
|
0.00131
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=)
|
rs138641101
|
0.00128
|
NM_017849.4(TMEM127):c.*502C>T
|
rs191970829
|
0.00128
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_153490.3(KRT13):c.*274T>C
|
rs141918873
|
0.00117
|
NM_020975.6(RET):c.*1130A>G
|
rs572936041
|
0.00112
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833
|
0.00108
|
NM_002272.4(KRT4):c.1203C>T (p.Arg401=)
|
rs199607128
|
0.00103
|
NM_002382.5(MAX):c.*616C>T
|
rs192895631
|
0.00103
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser)
|
rs148102980
|
0.00096
|
NM_002272.4(KRT4):c.361C>A (p.Pro121Thr)
|
rs200831095
|
0.00094
|
NM_003001.4(SDHC):c.*1098T>C
|
rs569588829
|
0.00094
|
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)
|
rs55647240
|
0.00093
|
NM_017849.4(TMEM127):c.-59C>T
|
rs542087360
|
0.00093
|
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)
|
rs114457076
|
0.00091
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
NM_017849.4(TMEM127):c.*57C>T
|
rs147532087
|
0.00089
|
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)
|
rs143375423
|
0.00088
|
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)
|
rs41287114
|
0.00087
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys)
|
rs200484321
|
0.00081
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00079
|
NM_153490.3(KRT13):c.409C>T (p.Arg137Cys)
|
rs142183272
|
0.00078
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_153490.3(KRT13):c.766G>A (p.Gly256Ser)
|
rs140780704
|
0.00072
|
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)
|
rs142992960
|
0.00069
|
NM_002382.5(MAX):c.*1229C>T
|
rs562514408
|
0.00066
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_017849.4(TMEM127):c.*3209A>G
|
rs186348610
|
0.00064
|
NM_017849.4(TMEM127):c.*2128C>A
|
rs533813582
|
0.00061
|
NM_153490.3(KRT13):c.767G>A (p.Gly256Asp)
|
rs150947773
|
0.00060
|
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)
|
rs141230910
|
0.00057
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg)
|
rs190897990
|
0.00056
|
NM_017849.4(TMEM127):c.*980G>A
|
rs77989183
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)
|
rs148709288
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
NM_002382.5(MAX):c.*144C>T
|
rs191382960
|
0.00050
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_017849.4(TMEM127):c.*2966C>G
|
rs17119378
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_002028.4(FNTB):c.209+1976G>T
|
rs201052112
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_020975.6(RET):c.*576G>A
|
rs185408658
|
0.00044
|
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)
|
rs144234864
|
0.00043
|
NM_020975.6(RET):c.*1644G>C
|
rs117119161
|
0.00043
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_002272.4(KRT4):c.224G>A (p.Gly75Glu)
|
rs200665579
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro)
|
rs139318123
|
0.00041
|
NM_002272.4(KRT4):c.548A>G (p.Asn183Ser)
|
rs199768158
|
0.00039
|
NM_020975.6(RET):c.*1348G>A
|
rs149252070
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_020975.6(RET):c.2037C>T (p.Pro679=)
|
rs55862116
|
0.00039
|
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=)
|
rs139623802
|
0.00037
|
NM_000435.3(NOTCH3):c.*306C>T
|
rs181930934
|
0.00036
|
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)
|
rs377740271
|
0.00036
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_002272.4(KRT4):c.766G>A (p.Val256Met)
|
rs201754946
|
0.00035
|
NM_020975.6(RET):c.2939+13T>C
|
rs149417158
|
0.00035
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)
|
rs150652786
|
0.00034
|
NM_002272.4(KRT4):c.*30T>A
|
rs372075566
|
0.00033
|
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)
|
rs147303614
|
0.00033
|
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)
|
rs200225593
|
0.00032
|
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=)
|
rs192355633
|
0.00032
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)
|
rs199873101
|
0.00031
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
0.00031
|
NM_015922.3(NSDHL):c.*129C>T
|
rs145978994
|
0.00030
|
NM_002382.5(MAX):c.*128T>A
|
rs539193441
|
0.00029
|
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)
|
rs78336563
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)
|
rs374507681
|
0.00029
|
NM_153490.3(KRT13):c.-45C>A
|
rs367712050
|
0.00029
|
NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys)
|
rs146666963
|
0.00029
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_002382.5(MAX):c.-18C>T
|
rs201456746
|
0.00027
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser)
|
rs377399080
|
0.00024
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)
|
rs200203294
|
0.00024
|
NM_017849.4(TMEM127):c.*612C>T
|
rs549115489
|
0.00024
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_002272.4(KRT4):c.306C>T (p.Pro102=)
|
rs373594963
|
0.00023
|
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val)
|
rs150173975
|
0.00023
|
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
|
rs202038275
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_153490.3(KRT13):c.765C>T (p.Val255=)
|
rs147564962
|
0.00023
|
NM_002382.5(MAX):c.-80G>A
|
rs886050634
|
0.00022
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_020975.6(RET):c.*84G>A
|
rs558718557
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_153490.3(KRT13):c.*228C>G
|
rs574184263
|
0.00022
|
NM_153490.3(KRT13):c.947C>T (p.Thr316Ile)
|
rs753928241
|
0.00022
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile)
|
rs144857517
|
0.00020
|
NM_017849.4(TMEM127):c.*3396G>A
|
rs762419401
|
0.00020
|
NM_017849.4(TMEM127):c.*3569C>T
|
rs140274612
|
0.00020
|
NM_002382.5(MAX):c.*873T>C
|
rs183467855
|
0.00019
|
NM_002382.5(MAX):c.406G>A (p.Gly136Arg)
|
rs140490467
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
|
rs148853962
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)
|
rs778176344
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)
|
rs774197688
|
0.00017
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)
|
rs200684708
|
0.00016
|
NM_003000.3(SDHB):c.642+17T>C
|
rs200597595
|
0.00016
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)
|
rs183852315
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_002382.5(MAX):c.*1123A>C
|
rs552459072
|
0.00014
|
NM_002382.5(MAX):c.-98G>T
|
rs556543602
|
0.00014
|
NM_002609.4(PDGFRB):c.2023+5C>T
|
rs369842668
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
NM_020975.6(RET):c.3006C>T (p.Ser1002=)
|
rs370970483
|
0.00014
|
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)
|
rs376173540
|
0.00014
|
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
NM_002382.5(MAX):c.*1276G>C
|
rs748335228
|
0.00013
|
NM_002382.5(MAX):c.*503T>G
|
rs886050633
|
0.00013
|
NM_002609.4(PDGFRB):c.1368-15C>T
|
rs777941214
|
0.00013
|
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)
|
rs199649903
|
0.00013
|
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)
|
rs141511317
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)
|
rs370177269
|
0.00012
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_017849.4(TMEM127):c.*1178A>G
|
rs748572058
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_020975.6(RET):c.597C>T (p.Asn199=)
|
rs55810667
|
0.00012
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_002272.4(KRT4):c.873C>T (p.Ser291=)
|
rs754647771
|
0.00011
|
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met)
|
rs371975483
|
0.00011
|
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His)
|
rs145823245
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_153490.3(KRT13):c.*268C>T
|
rs188347004
|
0.00011
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
NM_002272.4(KRT4):c.*289G>A
|
rs886049639
|
0.00010
|
NM_002272.4(KRT4):c.1419C>T (p.Ser473=)
|
rs534019513
|
0.00010
|
NM_002272.4(KRT4):c.475G>A (p.Glu159Lys)
|
rs188245182
|
0.00010
|
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)
|
rs35731372
|
0.00010
|
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)
|
rs75748462
|
0.00010
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_020975.6(RET):c.1353G>T (p.Thr451=)
|
rs201568301
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)
|
rs763571736
|
0.00010
|
NM_153490.3(KRT13):c.1238A>T (p.Asp413Val)
|
rs200269035
|
0.00010
|
NM_153490.3(KRT13):c.815G>A (p.Arg272His)
|
rs142526332
|
0.00010
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_002272.4(KRT4):c.1386G>A (p.Val462=)
|
rs373947229
|
0.00009
|
NM_002382.5(MAX):c.*375G>A
|
rs539220905
|
0.00009
|
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
|
rs146064275
|
0.00009
|
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=)
|
rs753622898
|
0.00009
|
NM_002609.4(PDGFRB):c.2464-3C>T
|
rs571983343
|
0.00009
|
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
|
rs749932332
|
0.00009
|
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
|
rs147141808
|
0.00009
|
NM_003000.3(SDHB):c.423C>T (p.Pro141=)
|
rs150542357
|
0.00009
|
NM_003000.3(SDHB):c.543C>T (p.Asp181=)
|
rs199809975
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_017849.4(TMEM127):c.*1638G>C
|
rs753339060
|
0.00009
|
NM_017849.4(TMEM127):c.*3134C>T
|
rs566067694
|
0.00009
|
NM_017849.4(TMEM127):c.*3584G>C
|
rs370166706
|
0.00009
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)
|
rs377010221
|
0.00009
|
NM_153490.3(KRT13):c.637C>T (p.Arg213Trp)
|
rs78223890
|
0.00009
|
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)
|
rs771803651
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys)
|
rs367751022
|
0.00008
|
NM_002272.4(KRT4):c.31G>A (p.Gly11Arg)
|
rs371421345
|
0.00008
|
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
|
rs763239423
|
0.00008
|
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
|
rs145316660
|
0.00008
|
NM_017849.4(TMEM127):c.*3025G>C
|
rs886056430
|
0.00008
|
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
|
rs1249001227
|
0.00008
|
NM_020975.6(RET):c.1596C>T (p.Gly532=)
|
rs144460361
|
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_020975.6(RET):c.3156C>T (p.Leu1052=)
|
rs191769748
|
0.00008
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_002272.4(KRT4):c.364C>G (p.Leu122Val)
|
rs758695571
|
0.00007
|
NM_002382.5(MAX):c.*248A>T
|
rs559154342
|
0.00007
|
NM_002382.5(MAX):c.*297C>T
|
rs561525266
|
0.00007
|
NM_002382.5(MAX):c.25G>T (p.Val9Leu)
|
rs201743423
|
0.00007
|
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)
|
rs773441060
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003000.3(SDHB):c.225T>C (p.Ala75=)
|
rs201762207
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_020975.6(RET):c.*1326T>C
|
rs141016377
|
0.00007
|
NM_020975.6(RET):c.1182C>T (p.Asn394=)
|
rs376465385
|
0.00007
|
NM_020975.6(RET):c.1371A>T (p.Ser457=)
|
rs376464605
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.81G>A (p.Leu27=)
|
rs369519655
|
0.00007
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
NM_023110.3(FGFR1):c.359-13C>G
|
rs376369060
|
0.00007
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_002272.4(KRT4):c.-51G>A
|
rs531951809
|
0.00006
|
NM_002272.4(KRT4):c.1192C>T (p.His398Tyr)
|
rs374654554
|
0.00006
|
NM_002272.4(KRT4):c.359C>A (p.Thr120Asn)
|
rs201805600
|
0.00006
|
NM_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
0.00006
|
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met)
|
rs766614995
|
0.00006
|
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=)
|
rs201570042
|
0.00006
|
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His)
|
rs759436020
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
|
rs371293050
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)
|
rs200671534
|
0.00006
|
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)
|
rs577890523
|
0.00006
|
NM_017849.4(TMEM127):c.*2121G>T
|
rs778493549
|
0.00006
|
NM_017849.4(TMEM127):c.*2875A>G
|
rs915390483
|
0.00006
|
NM_017849.4(TMEM127):c.*3560G>T
|
rs886056428
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_020975.6(RET):c.2742A>G (p.Pro914=)
|
rs375963128
|
0.00006
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_020975.6(RET):c.736C>A (p.His246Asn)
|
rs780756440
|
0.00006
|
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)
|
rs752627281
|
0.00006
|
NM_023110.3(FGFR1):c.1285-15C>T
|
rs760069564
|
0.00006
|
NM_023110.3(FGFR1):c.2049-13C>T
|
rs756845879
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)
|
rs750472969
|
0.00005
|
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)
|
rs752995216
|
0.00005
|
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)
|
rs920286007
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_002272.4(KRT4):c.466C>T (p.Gln156Ter)
|
rs535497819
|
0.00005
|
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)
|
rs371550567
|
0.00005
|
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp)
|
rs374208706
|
0.00005
|
NM_003000.3(SDHB):c.200+7A>G
|
rs371329778
|
0.00005
|
NM_003000.3(SDHB):c.606C>T (p.Asn202=)
|
rs199653121
|
0.00005
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
NM_017849.4(TMEM127):c.*1723C>T
|
rs551200730
|
0.00005
|
NM_017849.4(TMEM127):c.*1879G>A
|
rs766485637
|
0.00005
|
NM_017849.4(TMEM127):c.*2800T>G
|
rs1037492575
|
0.00005
|
NM_017849.4(TMEM127):c.*3271A>G
|
rs569110562
|
0.00005
|
NM_017849.4(TMEM127):c.-220T>C
|
rs886056452
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.1476C>G (p.Thr492=)
|
rs758249079
|
0.00005
|
NM_020975.6(RET):c.2418C>T (p.Tyr806=)
|
rs553418132
|
0.00005
|
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)
|
rs372191563
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
NM_020975.6(RET):c.73+17G>T
|
rs763327195
|
0.00005
|
NM_153490.3(KRT13):c.1133G>A (p.Arg378His)
|
rs200309164
|
0.00005
|
NM_000142.5(FGFR3):c.1960-7C>T
|
rs779177992
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.713+13G>A
|
rs755961371
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)
|
rs776564488
|
0.00004
|
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)
|
rs748266278
|
0.00004
|
NM_001365951.3(KIF1B):c.2115+6545C>A
|
rs1299989581
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_002272.4(KRT4):c.1204G>A (p.Val402Ile)
|
rs772882487
|
0.00004
|
NM_002272.4(KRT4):c.1512C>A (p.Gly504=)
|
rs573971498
|
0.00004
|
NM_002272.4(KRT4):c.405G>A (p.Thr135=)
|
rs762792489
|
0.00004
|
NM_002272.4(KRT4):c.954T>C (p.Ile318=)
|
rs770727989
|
0.00004
|
NM_002382.5(MAX):c.*942C>T
|
rs886050630
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_002609.4(PDGFRB):c.1243+18C>T
|
rs199897509
|
0.00004
|
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
|
rs186555112
|
0.00004
|
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=)
|
rs56112987
|
0.00004
|
NM_002609.4(PDGFRB):c.2463+4C>T
|
rs557338313
|
0.00004
|
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=)
|
rs143342011
|
0.00004
|
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)
|
rs370594710
|
0.00004
|
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)
|
rs375836509
|
0.00004
|
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)
|
rs569140859
|
0.00004
|
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=)
|
rs755333624
|
0.00004
|
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn)
|
rs558122968
|
0.00004
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
NM_003000.3(SDHB):c.552C>T (p.Tyr184=)
|
rs202098600
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_017849.4(TMEM127):c.*16C>G
|
rs1251288941
|
0.00004
|
NM_017849.4(TMEM127):c.*3049T>C
|
rs1242736942
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_020975.6(RET):c.*1659T>C
|
rs886047012
|
0.00004
|
NM_020975.6(RET):c.*1900C>A
|
rs956882000
|
0.00004
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
NM_020975.6(RET):c.2124C>T (p.Ala708=)
|
rs749646777
|
0.00004
|
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)
|
rs748799148
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2427C>T (p.Tyr809=)
|
rs577929869
|
0.00004
|
NM_020975.6(RET):c.2790G>A (p.Thr930=)
|
rs746599792
|
0.00004
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)
|
rs758800351
|
0.00004
|
NM_020975.6(RET):c.2976G>A (p.Pro992=)
|
rs528823385
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.603C>T (p.Ser201=)
|
rs780120451
|
0.00004
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_020975.6(RET):c.79T>C (p.Leu27=)
|
rs377160777
|
0.00004
|
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)
|
rs759376422
|
0.00004
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
NM_023110.3(FGFR1):c.621+7G>T
|
rs377200873
|
0.00004
|
NM_023110.3(FGFR1):c.92-14C>T
|
rs547772178
|
0.00004
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
NM_153490.3(KRT13):c.759G>C (p.Gln253His)
|
rs766894151
|
0.00004
|
NM_153490.3(KRT13):c.869G>A (p.Arg290Gln)
|
rs535020030
|
0.00004
|
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)
|
rs745848425
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)
|
rs748774860
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)
|
rs121917766
|
0.00003
|
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly)
|
rs753431318
|
0.00003
|
NM_002272.4(KRT4):c.513G>A (p.Leu171=)
|
rs774677002
|
0.00003
|
NM_002272.4(KRT4):c.527C>T (p.Thr176Met)
|
rs370759790
|
0.00003
|
NM_002272.4(KRT4):c.835-4G>T
|
rs767441876
|
0.00003
|
NM_002272.4(KRT4):c.945C>T (p.Tyr315=)
|
rs778125368
|
0.00003
|
NM_002272.4(KRT4):c.983C>T (p.Ala328Val)
|
rs749943854
|
0.00003
|
NM_002382.5(MAX):c.*170C>T
|
rs762709691
|
0.00003
|
NM_002382.5(MAX):c.*44G>A
|
rs767990726
|
0.00003
|
NM_002382.5(MAX):c.-127G>A
|
rs886050637
|
0.00003
|
NM_002382.5(MAX):c.-30C>G
|
rs755465193
|
0.00003
|
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)
|
rs374802057
|
0.00003
|
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)
|
rs150562879
|
0.00003
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
NM_002609.4(PDGFRB):c.1971C>T (p.His657=)
|
rs138486655
|
0.00003
|
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)
|
rs776113877
|
0.00003
|
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
|
rs182175304
|
0.00003
|
NM_002609.4(PDGFRB):c.729C>T (p.Val243=)
|
rs758566697
|
0.00003
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.200+4A>C
|
rs774908929
|
0.00003
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_003000.3(SDHB):c.828G>A (p.Lys276=)
|
rs1260768784
|
0.00003
|
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg)
|
rs759143732
|
0.00003
|
NM_003002.4(SDHD):c.118A>G (p.Ile40Val)
|
rs146276662
|
0.00003
|
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu)
|
rs149516118
|
0.00003
|
NM_003002.4(SDHD):c.170-19A>G
|
rs1296685617
|
0.00003
|
NM_003002.4(SDHD):c.282C>T (p.Ser94=)
|
rs781182616
|
0.00003
|
NM_003002.4(SDHD):c.315-14T>C
|
rs1406470864
|
0.00003
|
NM_003002.4(SDHD):c.38C>T (p.Ala13Val)
|
rs750080041
|
0.00003
|
NM_003002.4(SDHD):c.52+13C>G
|
rs954474648
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_017849.4(TMEM127):c.*2503C>T
|
rs886056435
|
0.00003
|
NM_017849.4(TMEM127):c.*2563G>A
|
rs1483429634
|
0.00003
|
NM_017849.4(TMEM127):c.-242G>A
|
rs886056453
|
0.00003
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.1879+18G>A
|
rs368088386
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2284+15C>T
|
rs768252806
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
NM_020975.6(RET):c.897C>T (p.Phe299=)
|
rs529153319
|
0.00003
|
NM_020975.6(RET):c.96G>A (p.Ser32=)
|
rs139821724
|
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_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)
|
rs747333248
|
0.00003
|
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)
|
rs777061347
|
0.00003
|
NM_023110.3(FGFR1):c.2186+19C>T
|
rs776791517
|
0.00003
|
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)
|
rs369175953
|
0.00003
|
NM_153490.3(KRT13):c.*175G>A
|
rs1459808765
|
0.00003
|
NM_153490.3(KRT13):c.1028C>T (p.Ala343Val)
|
rs199762312
|
0.00003
|
NM_153490.3(KRT13):c.1227C>T (p.Leu409=)
|
rs149077503
|
0.00003
|
NM_153490.3(KRT13):c.1350C>T (p.Arg450=)
|
rs140142101
|
0.00003
|
NM_153490.3(KRT13):c.291C>T (p.Gly97=)
|
rs747752896
|
0.00003
|
NM_153490.3(KRT13):c.991C>T (p.Leu331=)
|
rs771435962
|
0.00003
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)
|
rs1256546303
|
0.00002
|
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)
|
rs104886006
|
0.00002
|
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)
|
rs764892330
|
0.00002
|
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)
|
rs770737365
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.267C>A (p.Leu89=)
|
rs755794553
|
0.00002
|
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)
|
rs1236604706
|
0.00002
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)
|
rs781410462
|
0.00002
|
NM_002272.4(KRT4):c.*267G>A
|
rs546884677
|
0.00002
|
NM_002272.4(KRT4):c.*496T>G
|
rs753033796
|
0.00002
|
NM_002272.4(KRT4):c.1147G>A (p.Val383Met)
|
rs751984023
|
0.00002
|
NM_002272.4(KRT4):c.193G>A (p.Val65Met)
|
rs754420448
|
0.00002
|
NM_002382.5(MAX):c.*1035C>T
|
rs1357628064
|
0.00002
|
NM_002382.5(MAX):c.*943G>A
|
rs111875569
|
0.00002
|
NM_002382.5(MAX):c.295+10C>T
|
rs375446224
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)
|
rs765124485
|
0.00002
|
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=)
|
rs532483221
|
0.00002
|
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)
|
rs541926152
|
0.00002
|
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)
|
rs376978985
|
0.00002
|
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
|
rs574853772
|
0.00002
|
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=)
|
rs745467275
|
0.00002
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
NM_003000.3(SDHB):c.540+15T>C
|
rs756714182
|
0.00002
|
NM_003000.3(SDHB):c.66C>T (p.Cys22=)
|
rs772853861
|
0.00002
|
NM_003000.3(SDHB):c.73-11A>C
|
rs927103985
|
0.00002
|
NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
0.00002
|
NM_003000.3(SDHB):c.765+5G>A
|
rs199945904
|
0.00002
|
NM_003000.3(SDHB):c.783A>G (p.Lys261=)
|
rs1060505014
|
0.00002
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
|
rs752689382
|
0.00002
|
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
|
rs753724042
|
0.00002
|
NM_003002.4(SDHD):c.18G>A (p.Arg6=)
|
rs200895313
|
0.00002
|
NM_003002.4(SDHD):c.228C>T (p.Leu76=)
|
rs148634289
|
0.00002
|
NM_003002.4(SDHD):c.366A>G (p.Lys122=)
|
rs780764151
|
0.00002
|
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp)
|
rs755584530
|
0.00002
|
NM_003002.4(SDHD):c.435C>T (p.His145=)
|
rs200062830
|
0.00002
|
NM_003002.4(SDHD):c.438T>C (p.Asp146=)
|
rs201328474
|
0.00002
|
NM_003002.4(SDHD):c.464T>A (p.Met155Lys)
|
rs1060503776
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003002.4(SDHD):c.52+8G>A
|
rs370761122
|
0.00002
|
NM_003002.4(SDHD):c.56T>C (p.Leu19Pro)
|
rs574698019
|
0.00002
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_017849.4(TMEM127):c.*1505A>G
|
rs118172849
|
0.00002
|
NM_017849.4(TMEM127):c.*1620C>T
|
rs886056440
|
0.00002
|
NM_017849.4(TMEM127):c.*2171C>T
|
rs555968113
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.410-6T>G
|
rs765971817
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
NM_020975.6(RET):c.144G>A (p.Thr48=)
|
rs759872307
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
NM_020975.6(RET):c.2358T>C (p.His786=)
|
rs758715544
|
0.00002
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.488G>A (p.Arg163Gln)
|
rs149403911
|
0.00002
|
NM_020975.6(RET):c.682G>C (p.Ala228Pro)
|
rs760813493
|
0.00002
|
NM_020975.6(RET):c.723C>T (p.Ala241=)
|
rs544252468
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.825C>T (p.Gly275=)
|
rs150797149
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)
|
rs777103792
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_023110.3(FGFR1):c.1663+10G>A
|
rs901498652
|
0.00002
|
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)
|
rs774683007
|
0.00002
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)
|
rs771680156
|
0.00002
|
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)
|
rs758677681
|
0.00002
|
NM_023110.3(FGFR1):c.621+19G>A
|
rs945311072
|
0.00002
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_133171.5(ELMO2):c.1416+9C>G
|
rs770529533
|
0.00002
|
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys)
|
rs1394162514
|
0.00002
|
NM_153490.3(KRT13):c.1352G>A (p.Arg451His)
|
rs550693344
|
0.00002
|
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)
|
rs770029887
|
0.00001
|
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)
|
rs772276122
|
0.00001
|
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)
|
rs533866031
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)
|
rs369232922
|
0.00001
|
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)
|
rs369758941
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)
|
rs766139231
|
0.00001
|
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)
|
rs770146452
|
0.00001
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
|
rs2046938247
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)
|
rs749616364
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
NM_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)
|
rs1269940164
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001365951.3(KIF1B):c.2115+6476T>C
|
rs764466176
|
0.00001
|
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)
|
rs773852256
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)
|
rs1051917954
|
0.00001
|
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)
|
rs1011009249
|
0.00001
|
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
|
rs754479325
|
0.00001
|
NM_002272.4(KRT4):c.-54A>T
|
rs369760401
|
0.00001
|
NM_002272.4(KRT4):c.1347-3C>T
|
rs777376453
|
0.00001
|
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg)
|
rs771250577
|
0.00001
|
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn)
|
rs780754412
|
0.00001
|
NM_002272.4(KRT4):c.558C>G (p.Pro186=)
|
rs766644080
|
0.00001
|
NM_002272.4(KRT4):c.677+4C>T
|
rs886049642
|
0.00001
|
NM_002272.4(KRT4):c.678-10C>T
|
rs777722293
|
0.00001
|
NM_002382.5(MAX):c.*1285T>C
|
rs886050628
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys)
|
rs1430793034
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys)
|
rs202179598
|
0.00001
|
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)
|
rs540480924
|
0.00001
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
|
rs1483057981
|
0.00001
|
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)
|
rs770027941
|
0.00001
|
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs)
|
rs771859820
|
0.00001
|
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met)
|
rs139554380
|
0.00001
|
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=)
|
rs201518972
|
0.00001
|
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)
|
rs144050370
|
0.00001
|
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)
|
rs555800957
|
0.00001
|
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
|
rs751904503
|
0.00001
|
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
|
rs377442091
|
0.00001
|
NM_002609.4(PDGFRB):c.2587-5T>C
|
rs758524703
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
|
rs747398617
|
0.00001
|
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)
|
rs753367645
|
0.00001
|
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)
|
rs267600485
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=)
|
rs764023871
|
0.00001
|
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
|
rs756283680
|
0.00001
|
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile)
|
rs370817438
|
0.00001
|
NM_002609.4(PDGFRB):c.726G>C (p.Val242=)
|
rs149027530
|
0.00001
|
NM_002609.4(PDGFRB):c.783G>A (p.Val261=)
|
rs142649064
|
0.00001
|
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=)
|
rs778116813
|
0.00001
|
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)
|
rs1175765188
|
0.00001
|
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)
|
rs1580808180
|
0.00001
|
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser)
|
rs761286709
|
0.00001
|
NM_003000.3(SDHB):c.123A>G (p.Lys41=)
|
rs137877851
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.144C>T (p.Asp48=)
|
rs1553178737
|
0.00001
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
NM_003000.3(SDHB):c.171T>C (p.His57=)
|
rs1280868219
|
0.00001
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
NM_003000.3(SDHB):c.183T>C (p.Tyr61=)
|
rs760169139
|
0.00001
|
NM_003000.3(SDHB):c.186A>G (p.Glu62=)
|
rs876658473
|
0.00001
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
NM_003000.3(SDHB):c.201-10T>C
|
rs761461907
|
0.00001
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
NM_003000.3(SDHB):c.217T>C (p.Leu73=)
|
rs763734164
|
0.00001
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.286+16C>T
|
rs200305451
|
0.00001
|
NM_003000.3(SDHB):c.286+18G>A
|
rs1352485549
|
0.00001
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
NM_003000.3(SDHB):c.287-12T>C
|
rs747263813
|
0.00001
|
NM_003000.3(SDHB):c.287-4T>C
|
rs200419171
|
0.00001
|
NM_003000.3(SDHB):c.287-7C>G
|
rs542180633
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
NM_003000.3(SDHB):c.312C>T (p.Asn104=)
|
rs876660346
|
0.00001
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
NM_003000.3(SDHB):c.33C>T (p.Arg11=)
|
rs146399542
|
0.00001
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.34C>A (p.Arg12=)
|
rs761996626
|
0.00001
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.424-11C>G
|
rs199523383
|
0.00001
|
NM_003000.3(SDHB):c.424-16T>G
|
rs754406155
|
0.00001
|
NM_003000.3(SDHB):c.424-20C>A
|
rs1164478186
|
0.00001
|
NM_003000.3(SDHB):c.424-4A>G
|
rs767878021
|
0.00001
|
NM_003000.3(SDHB):c.424-6C>T
|
rs376285522
|
0.00001
|
NM_003000.3(SDHB):c.42G>A (p.Pro14=)
|
rs760753435
|
0.00001
|
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
NM_003000.3(SDHB):c.519C>T (p.Ser173=)
|
rs768454654
|
0.00001
|
NM_003000.3(SDHB):c.51C>A (p.Thr17=)
|
rs550555402
|
0.00001
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
NM_003000.3(SDHB):c.541-19C>G
|
rs781716730
|
0.00001
|
NM_003000.3(SDHB):c.541-3C>T
|
rs751920183
|
0.00001
|
NM_003000.3(SDHB):c.541-7C>T
|
rs201558574
|
0.00001
|
NM_003000.3(SDHB):c.541-9C>T
|
rs755367242
|
0.00001
|
NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
NM_003000.3(SDHB):c.624G>T (p.Gly208=)
|
rs1214592422
|
0.00001
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.642+11C>T
|
rs1321974936
|
0.00001
|
NM_003000.3(SDHB):c.642+14T>C
|
rs1400740755
|
0.00001
|
NM_003000.3(SDHB):c.642+15A>G
|
rs368427218
|
0.00001
|
NM_003000.3(SDHB):c.642+6G>A
|
rs1326333007
|
0.00001
|
NM_003000.3(SDHB):c.642+7T>C
|
rs747423037
|
0.00001
|
NM_003000.3(SDHB):c.643-4C>G
|
rs748796588
|
0.00001
|
NM_003000.3(SDHB):c.643-7T>C
|
rs374921867
|
0.00001
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
NM_003000.3(SDHB):c.645C>G (p.Ala215=)
|
rs1473312934
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.663C>T (p.Asp221=)
|
rs1475864409
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.696C>T (p.Ala232=)
|
rs779143585
|
0.00001
|
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
|
rs201728852
|
0.00001
|
NM_003000.3(SDHB):c.705G>A (p.Gln235=)
|
rs1570944851
|
0.00001
|
NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
0.00001
|
NM_003000.3(SDHB):c.72+18A>G
|
rs758905319
|
0.00001
|
NM_003000.3(SDHB):c.720A>G (p.Leu240=)
|
rs759446340
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003000.3(SDHB):c.73-6T>A
|
rs1252798981
|
0.00001
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003000.3(SDHB):c.765+4C>T
|
rs776039903
|
0.00001
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
0.00001
|
NM_003000.3(SDHB):c.766-20T>C
|
rs750144449
|
0.00001
|
NM_003000.3(SDHB):c.766-9T>G
|
rs2077946427
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
NM_003000.3(SDHB):c.84A>G (p.Gly28=)
|
rs1337602604
|
0.00001
|
NM_003000.3(SDHB):c.87C>G (p.Ala29=)
|
rs2078100833
|
0.00001
|
NM_003001.4(SDHC):c.*1481G>A
|
rs886045486
|
0.00001
|
NM_003001.4(SDHC):c.*1699A>G
|
rs886045490
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)
|
rs199901239
|
0.00001
|
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys)
|
rs756995021
|
0.00001
|
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg)
|
rs778202647
|
0.00001
|
NM_003002.4(SDHD):c.141G>A (p.Gln47=)
|
rs1217254088
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.159G>A (p.Pro53=)
|
rs201368675
|
0.00001
|
NM_003002.4(SDHD):c.167A>C (p.His56Pro)
|
rs1555186817
|
0.00001
|
NM_003002.4(SDHD):c.170-12T>C
|
rs764191089
|
0.00001
|
NM_003002.4(SDHD):c.170-18A>C
|
rs1402144794
|
0.00001
|
NM_003002.4(SDHD):c.170-6T>C
|
rs753703004
|
0.00001
|
NM_003002.4(SDHD):c.180G>T (p.Lys60Asn)
|
rs750688879
|
0.00001
|
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)
|
rs104894307
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_003002.4(SDHD):c.211G>A (p.Val71Ile)
|
rs1428042303
|
0.00001
|
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly)
|
rs748545223
|
0.00001
|
NM_003002.4(SDHD):c.21G>A (p.Leu7=)
|
rs974401612
|
0.00001
|
NM_003002.4(SDHD):c.230T>C (p.Leu77Pro)
|
rs777963699
|
0.00001
|
NM_003002.4(SDHD):c.231G>C (p.Leu77=)
|
rs1187106228
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.243G>C (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
|
rs772671893
|
0.00001
|
NM_003002.4(SDHD):c.264C>T (p.Cys88=)
|
rs761615413
|
0.00001
|
NM_003002.4(SDHD):c.270G>A (p.Ala90=)
|
rs766656463
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys)
|
rs199754684
|
0.00001
|
NM_003002.4(SDHD):c.293C>T (p.Ala98Val)
|
rs200980609
|
0.00001
|
NM_003002.4(SDHD):c.297C>T (p.Leu99=)
|
rs749657880
|
0.00001
|
NM_003002.4(SDHD):c.301C>T (p.Leu101Phe)
|
rs1165258369
|
0.00001
|
NM_003002.4(SDHD):c.310C>G (p.His104Asp)
|
rs779863605
|
0.00001
|
NM_003002.4(SDHD):c.314+12A>G
|
rs201163618
|
0.00001
|
NM_003002.4(SDHD):c.315-18T>G
|
rs1260988180
|
0.00001
|
NM_003002.4(SDHD):c.327A>G (p.Gln109=)
|
rs1566702383
|
0.00001
|
NM_003002.4(SDHD):c.328G>A (p.Val110Ile)
|
rs1060503771
|
0.00001
|
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)
|
rs201869798
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003002.4(SDHD):c.33C>T (p.Cys11=)
|
rs104894309
|
0.00001
|
NM_003002.4(SDHD):c.342T>C (p.Tyr114=)
|
rs1050032491
|
0.00001
|
NM_003002.4(SDHD):c.344T>C (p.Val115Ala)
|
rs1489012268
|
0.00001
|
NM_003002.4(SDHD):c.353A>G (p.Asp118Gly)
|
rs750857413
|
0.00001
|
NM_003002.4(SDHD):c.356C>T (p.Ala119Val)
|
rs758784300
|
0.00001
|
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp)
|
rs764384503
|
0.00001
|
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn)
|
rs878854595
|
0.00001
|
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro)
|
rs1312671864
|
0.00001
|
NM_003002.4(SDHD):c.400T>G (p.Leu134Val)
|
rs200851392
|
0.00001
|
NM_003002.4(SDHD):c.405C>A (p.Thr135=)
|
rs1555187606
|
0.00001
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
NM_003002.4(SDHD):c.422A>G (p.Tyr141Cys)
|
rs199772639
|
0.00001
|
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser)
|
rs770909248
|
0.00001
|
NM_003002.4(SDHD):c.430T>C (p.Tyr144His)
|
rs774243340
|
0.00001
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
0.00001
|
NM_003002.4(SDHD):c.433C>A (p.His145Asn)
|
rs121908984
|
0.00001
|
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)
|
rs1314133983
|
0.00001
|
NM_003002.4(SDHD):c.52+19C>T
|
rs1566690388
|
0.00001
|
NM_003002.4(SDHD):c.53-10C>G
|
rs201350484
|
0.00001
|
NM_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
NM_003002.4(SDHD):c.5C>T (p.Ala2Val)
|
rs1440670464
|
0.00001
|
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)
|
rs776930864
|
0.00001
|
NM_003002.4(SDHD):c.88C>T (p.His30Tyr)
|
rs561759202
|
0.00001
|
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
|
rs1592778803
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile)
|
rs775083333
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)
|
rs1057519725
|
0.00001
|
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)
|
rs121913538
|
0.00001
|
NM_005120.3(MED12):c.100-8T>A
|
rs199469675
|
0.00001
|
NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn)
|
rs199469689
|
0.00001
|
NM_005220.3(DLX3):c.263A>G (p.Tyr88Cys)
|
rs772972332
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.398T>A (p.Leu133His)
|
rs766801436
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_017849.4(TMEM127):c.*1784C>T
|
rs571939749
|
0.00001
|
NM_017849.4(TMEM127):c.*179C>T
|
rs932134479
|
0.00001
|
NM_017849.4(TMEM127):c.*1822T>C
|
rs144880727
|
0.00001
|
NM_017849.4(TMEM127):c.*2245A>G
|
rs886056438
|
0.00001
|
NM_017849.4(TMEM127):c.*2299C>T
|
rs896902158
|
0.00001
|
NM_017849.4(TMEM127):c.*2445G>T
|
rs886056436
|
0.00001
|
NM_017849.4(TMEM127):c.*2518C>A
|
rs1181236784
|
0.00001
|
NM_017849.4(TMEM127):c.*2760A>C
|
rs886056431
|
0.00001
|
NM_017849.4(TMEM127):c.*2911C>T
|
rs1461511429
|
0.00001
|
NM_017849.4(TMEM127):c.*3391G>A
|
rs1260000636
|
0.00001
|
NM_017849.4(TMEM127):c.*340G>A
|
rs1032246352
|
0.00001
|
NM_017849.4(TMEM127):c.*3568C>G
|
rs886056427
|
0.00001
|
NM_017849.4(TMEM127):c.-196C>T
|
rs886056451
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
0.00001
|
NM_017849.4(TMEM127):c.12C>T (p.Pro4=)
|
rs1406470818
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)
|
rs750870974
|
0.00001
|
NM_017849.4(TMEM127):c.426C>T (p.Thr142=)
|
rs552787569
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)
|
rs550833832
|
0.00001
|
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)
|
rs140860906
|
0.00001
|
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)
|
rs1348645128
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.654G>A (p.Glu218=)
|
rs776822044
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_020975.6(RET):c.*1112A>G
|
rs1353594500
|
0.00001
|
NM_020975.6(RET):c.*1533A>G
|
rs1838409564
|
0.00001
|
NM_020975.6(RET):c.*175C>G
|
rs886046990
|
0.00001
|
NM_020975.6(RET):c.-158G>A
|
rs886046984
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)
|
rs1394361948
|
0.00001
|
NM_020975.6(RET):c.1151C>G (p.Pro384Arg)
|
rs771679592
|
0.00001
|
NM_020975.6(RET):c.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1263+19C>T
|
rs371417381
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.138C>T (p.Ala46=)
|
rs1177522214
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1649-7T>C
|
rs758817204
|
0.00001
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
NM_020975.6(RET):c.1811C>T (p.Ala604Val)
|
rs1286776938
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.199C>T (p.Arg67Cys)
|
rs749390385
|
0.00001
|
NM_020975.6(RET):c.2005A>G (p.Ile669Val)
|
rs776986585
|
0.00001
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2268C>T (p.Ala756=)
|
rs370791179
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
0.00001
|
NM_020975.6(RET):c.235C>T (p.Arg79Trp)
|
rs537523906
|
0.00001
|
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)
|
rs1352006130
|
0.00001
|
NM_020975.6(RET):c.236G>A (p.Arg79Gln)
|
rs1318325737
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_020975.6(RET):c.2679C>T (p.Phe893=)
|
rs768188546
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)
|
rs569004816
|
0.00001
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)
|
rs370756353
|
0.00001
|
NM_020975.6(RET):c.3184T>C (p.Tyr1062His)
|
rs138010639
|
0.00001
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
NM_020975.6(RET):c.432C>T (p.Arg144=)
|
rs756999107
|
0.00001
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
NM_020975.6(RET):c.59C>A (p.Pro20Gln)
|
rs1837067697
|
0.00001
|
NM_020975.6(RET):c.602G>C (p.Ser201Thr)
|
rs898525501
|
0.00001
|
NM_020975.6(RET):c.625+11A>G
|
rs778239396
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
NM_023110.3(FGFR1):c.*112C>T
|
rs1189535138
|
0.00001
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)
|
rs756104594
|
0.00001
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)
|
rs546318124
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
|
rs1034848904
|
0.00001
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
NM_023110.3(FGFR1):c.1978-13G>A
|
rs761708658
|
0.00001
|
NM_023110.3(FGFR1):c.1978-16C>T
|
rs764971696
|
0.00001
|
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)
|
rs1193961883
|
0.00001
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)
|
rs369782405
|
0.00001
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)
|
rs780153672
|
0.00001
|
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)
|
rs515726222
|
0.00001
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)
|
rs778089198
|
0.00001
|
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)
|
rs119475040
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_133171.5(ELMO2):c.1065+1G>A
|
rs768410753
|
0.00001
|
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)
|
rs1372506599
|
0.00001
|
NM_153490.3(KRT13):c.*74A>C
|
rs886052907
|
0.00001
|
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn)
|
rs1265435884
|
0.00001
|
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn)
|
rs886052908
|
0.00001
|
NM_153490.3(KRT13):c.420C>T (p.His140=)
|
rs530596803
|
0.00001
|
NM_153490.3(KRT13):c.449G>A (p.Arg150Gln)
|
rs548070268
|
0.00001
|
NM_153490.3(KRT13):c.496-9A>G
|
rs780820686
|
0.00001
|
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr)
|
rs767618537
|
0.00001
|
NM_153490.3(KRT13):c.844G>A (p.Glu282Lys)
|
rs202057977
|
0.00001
|
NM_153490.3(KRT13):c.9C>T (p.Leu3=)
|
rs185787290
|
0.00001
|
46;X;inv(X)(q26q28)dn
|
|
|
46;XX;ins(3;1)(q23;p22p32)dn
|
|
|
46;XX;t(4;14)(p15.2;q13)dn
|
|
|
46;XX;t(6;17)(q13;q21)dn
|
|
|
46;XY;inv(6)(p22q13)dn
|
|
|
46;XY;t(1;4)(q32;q11)
|
|
|
46;XY;t(7;13)(p15.3;q14.1)dn
|
|
|
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
|
|
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17371403_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17350579_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17349097)_(17359646_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
NC_000001.10:g.(?_17354234)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371246)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371256)_(17371383_?)dup
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17018968_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17054029_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17071491_?)del
|
|
|
NC_000001.11:g.(?_17033050)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17033054)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17044751)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17044761)_(17044888_?)del
|
|
|
NC_000001.11:g.(?_17053938)_(17054029_?)del
|
|
|
NC_000005.9:g.(?_149503793)_(149516630_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111959745_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111956548)_(111967525_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111959745_?)dup
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111959581)_(111965694_?)del
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)
|
rs1448029825
|
|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)
|
rs121913105
|
|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)
|
rs397515514
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys)
|
rs1555993319
|
|
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val)
|
rs933640981
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro)
|
rs1555985260
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)
|
rs1554820262
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000420.3(KEL):c.604G>A (p.Gly202Ser)
|
rs2116680039
|
|
NM_000420.3(KEL):c.961C>T (p.Gln321Ter)
|
rs980885552
|
|
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)
|
rs58852768
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.2410+15dup
|
rs747731340
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu)
|
rs1405393607
|
|
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)
|
rs1174625611
|
|
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro)
|
rs367543285
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.5114+11T>G
|
rs2046721049
|
|
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
|
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs)
|
rs2131267739
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr)
|
rs137854879
|
|
NM_000551.4(VHL):c.-10C>T
|
rs1192379474
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.340+714G>A
|
rs1054796088
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
rs869025650
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+9G>A
|
rs1057522720
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.479A>T (p.Glu160Val)
|
rs864321641
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.508G>A (p.Val170Ile)
|
rs1553620326
|
|
NM_000551.4(VHL):c.509T>C (p.Val170Ala)
|
rs864321642
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)
|
rs724160008
|
|
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)
|
rs11540945
|
|
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)
|
rs724160010
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)
|
rs724160009
|
|
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)
|
rs724160011
|
|
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)
|
rs724160012
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001013625.4(CFAP126):c.*221del
|
rs57914150
|
|
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)
|
rs1554710890
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro)
|
rs138631461
|
|
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)
|
rs2103083622
|
|
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
|
|
|
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)
|
rs1554047435
|
|
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)
|
rs1727604042
|
|
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)
|
rs2150159210
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[15]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[17]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[18]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[19]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*281_*282dup
|
rs886044986
|
|
NM_001365951.3(KIF1B):c.*281_*286del
|
rs886044990
|
|
NM_001365951.3(KIF1B):c.*2978dup
|
rs145348144
|
|
NM_001365951.3(KIF1B):c.*4127dup
|
rs548680591
|
|
NM_001365951.3(KIF1B):c.*4279dup
|
rs531640427
|
|
NM_001365951.3(KIF1B):c.*454CT[1]
|
rs886044993
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
NM_001365951.3(KIF1B):c.-26TA[7]
|
rs34063243
|
|
NM_001365951.3(KIF1B):c.2115+6012C>G
|
|
|
NM_001365951.3(KIF1B):c.2115+7115C>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7270G>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7343G>A
|
|
|
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)
|
rs2102315795
|
|
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
|
|
|
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)
|
rs1555238867
|
|
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001370259.2(MEN1):c.654+1del
|
rs1057518903
|
|
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
|
rs794727100
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)
|
rs1554209779
|
|
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)
|
rs1555630396
|
|
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)
|
rs1640240555
|
|
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)
|
rs1555702147
|
|
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
|
|
|
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
|
|
|
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
|
|
|
NM_002272.4(KRT4):c.*126C>A
|
rs886049640
|
|
NM_002272.4(KRT4):c.*405G>A
|
rs886049638
|
|
NM_002272.4(KRT4):c.1020G>C (p.Ser340=)
|
rs7956809
|
|
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val)
|
rs1939839883
|
|
NM_002272.4(KRT4):c.1259G>A (p.Arg420His)
|
rs377329227
|
|
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys)
|
rs62642055
|
|
NM_002272.4(KRT4):c.1346+15A>T
|
rs931479
|
|
NM_002272.4(KRT4):c.1467C>A (p.Gly489=)
|
rs1345230715
|
|
NM_002272.4(KRT4):c.186C>T (p.Ser62=)
|
rs886049645
|
|
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly)
|
rs886049646
|
|
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp)
|
rs886049644
|
|
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)
|
rs587776845
|
|
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del)
|
rs587776844
|
|
NM_002272.4(KRT4):c.463-9T>C
|
rs886049643
|
|
NM_002272.4(KRT4):c.54C>G (p.Gly18=)
|
rs748727199
|
|
NM_002272.4(KRT4):c.726G>A (p.Val242=)
|
rs886049641
|
|
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu)
|
rs369593094
|
|
NM_002272.4(KRT4):c.801C>T (p.Asp267=)
|
rs369207280
|
|
NM_002272.4(KRT4):c.834+2T>G
|
rs937464890
|
|
NM_002382.5(MAX):c.*1023C>T
|
rs886050629
|
|
NM_002382.5(MAX):c.*169T>C
|
rs567680521
|
|
NM_002382.5(MAX):c.*344T>A
|
rs561238353
|
|
NM_002382.5(MAX):c.*608CA[1]
|
rs886050631
|
|
NM_002382.5(MAX):c.*65G>C
|
rs566299166
|
|
NM_002382.5(MAX):c.*678C>T
|
rs934021031
|
|
NM_002382.5(MAX):c.*700G>T
|
rs139403325
|
|
NM_002382.5(MAX):c.*96C>G
|
rs949792280
|
|
NM_002382.5(MAX):c.-110A>T
|
rs886050636
|
|
NM_002382.5(MAX):c.-126AGTG[4]
|
rs556734672
|
|
NM_002382.5(MAX):c.-126AGTG[6]
|
rs556734672
|
|
NM_002382.5(MAX):c.-152TG[8]
|
rs886050638
|
|
NM_002382.5(MAX):c.-99G>A
|
rs570017996
|
|
NM_002382.5(MAX):c.172-6278_172-6277del
|
|
|
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
NM_002382.5(MAX):c.373A>C (p.Asn125His)
|
rs2063062933
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
|
|
|
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)
|
rs387906651
|
|
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)
|
rs2143631386
|
|
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu)
|
rs397514553
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
|
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)
|
|
|
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
|
|
|
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)
|
|
|
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
|
|
|
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
|
|
|
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
|
|
|
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
|
|
|
NM_002609.4(PDGFRB):c.1127+17C>G
|
|
|
NM_002609.4(PDGFRB):c.1127+7A>G
|
|
|
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
|
|
|
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
|
|
|
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
|
|
|
NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)
|
|
|
NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)
|
|
|
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
|
|
|
NM_002609.4(PDGFRB):c.1243+12G>A
|
|
|
NM_002609.4(PDGFRB):c.1244-4G>A
|
rs1580805805
|
|
NM_002609.4(PDGFRB):c.1244-5T>C
|
|
|
NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)
|
|
|
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
|
|
|
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)
|
|
|
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)
|
|
|
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)
|
|
|
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)
|
rs1312583190
|
|
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
|
|
|
NM_002609.4(PDGFRB):c.1367+20A>G
|
|
|
NM_002609.4(PDGFRB):c.1368-14G>A
|
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
|
|
|
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)
|
|
|
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
|
|
|
NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)
|
|
|
NM_002609.4(PDGFRB):c.1497C>T (p.His499=)
|
|
|
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Val506_Arg507insLeuLeuSerVal)
|
rs1760406652
|
|
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)
|
|
|
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=)
|
rs750725462
|
|
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
|
|
|
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
|
|
|
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
|
|
|
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
|
|
|
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
|
|
|
NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)
|
|
|
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)
|
rs371192118
|
|
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=)
|
rs1580804718
|
|
NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)
|
|
|
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
|
|
|
NM_002609.4(PDGFRB):c.1579+10C>T
|
rs571420039
|
|
NM_002609.4(PDGFRB):c.1580-8G>A
|
|
|
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)
|
rs1760301176
|
|
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)
|
rs1760301005
|
|
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Ile538_Leu539insArg)
|
rs1060499541
|
|
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
|
|
|
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe)
|
rs2113898287
|
|
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
|
|
|
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
|
|
|
NM_002609.4(PDGFRB):c.1674+9C>G
|
rs1231443369
|
|
NM_002609.4(PDGFRB):c.1675-14G>T
|
|
|
NM_002609.4(PDGFRB):c.1675-17T>G
|
|
|
NM_002609.4(PDGFRB):c.1675-4C>T
|
|
|
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
|
|
|
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis)
|
rs1760272027
|
|
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp)
|
rs1760271956
|
|
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)
|
rs1060499542
|
|
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu)
|
rs1060499543
|
|
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu)
|
rs1554108389
|
|
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met)
|
rs2113897117
|
|
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Val572_Ser573insGluLeuIleArgTrpLysValIleGluSerVal)
|
rs1760270922
|
|
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=)
|
rs2113897064
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
|
rs1760269359
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
|
|
|
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
|
|
|
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
|
rs367951719
|
|
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)
|
|
|
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)
|
|
|
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
|
|
|
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)
|
|
|
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)
|
|
|
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
|
|
|
NM_002609.4(PDGFRB):c.1913-10T>A
|
|
|
NM_002609.4(PDGFRB):c.1913-16C>G
|
|
|
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
|
|
|
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
|
|
|
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)
|
|
|
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
|
|
|
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)
|
rs864309711
|
|
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys)
|
rs864309711
|
|
NM_002609.4(PDGFRB):c.2023+16C>T
|
|
|
NM_002609.4(PDGFRB):c.2023+6G>A
|
|
|
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
|
|
|
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
|
|
|
NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)
|
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)
|
|
|
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
|
|
|
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)
|
|
|
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr)
|
rs770635073
|
|
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
|
|
|
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
|
|
|
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)
|
|
|
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)
|
|
|
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe)
|
rs142689325
|
|
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
|
rs961398213
|
|
NM_002609.4(PDGFRB):c.2183+18A>G
|
|
|
NM_002609.4(PDGFRB):c.2183+19G>A
|
|
|
NM_002609.4(PDGFRB):c.2184-7C>T
|
|
|
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
|
|
|
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)
|
|
|
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)
|
|
|
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
|
|
|
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn)
|
rs1760151971
|
|
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
|
|
|
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)
|
|
|
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
|
|
|
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
|
|
|
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
|
|
|
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
|
|
|
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
|
|
|
NM_002609.4(PDGFRB):c.2345-18C>T
|
|
|
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr)
|
rs2113890060
|
|
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
|
|
|
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
|
|
|
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
|
|
|
NM_002609.4(PDGFRB):c.2464-19C>G
|
|
|
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
|
|
|
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
|
|
|
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
|
|
|
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
|
|
|
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val)
|
rs1060499540
|
|
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
|
|
|
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
|
|
|
NM_002609.4(PDGFRB):c.2586+13C>T
|
|
|
NM_002609.4(PDGFRB):c.2586+20C>A
|
|
|
NM_002609.4(PDGFRB):c.2586+20C>G
|
|
|
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)
|
|
|
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)
|
|
|
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
|
|
|
NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)
|
|
|
NM_002609.4(PDGFRB):c.2698+1G>T
|
|
|
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
|
|
|
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
|
|
|
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
NM_002609.4(PDGFRB):c.2798+10G>A
|
|
|
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
|
|
|
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
|
|
|
NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)
|
|
|
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
|
rs1321037719
|
|
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
|
rs773161073
|
|
NM_002609.4(PDGFRB):c.2904+15G>A
|
|
|
NM_002609.4(PDGFRB):c.2905-19C>G
|
|
|
NM_002609.4(PDGFRB):c.2905-1G>T
|
|
|
NM_002609.4(PDGFRB):c.2905-8G>A
|
rs201866603
|
|
NM_002609.4(PDGFRB):c.2905-8G>C
|
|
|
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
|
|
|
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)
|
rs1561984983
|
|
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)
|
|
|
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
|
|
|
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)
|
|
|
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
|
|
|
NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)
|
|
|
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)
|
|
|
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)
|
|
|
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=)
|
rs2113883671
|
|
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)
|
|
|
NM_002609.4(PDGFRB):c.3137+13G>T
|
rs2113883431
|
|
NM_002609.4(PDGFRB):c.3137+15C>T
|
|
|
NM_002609.4(PDGFRB):c.3138-11C>G
|
|
|
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
|
|
|
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)
|
|
|
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)
|
|
|
NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
|
|
|
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
|
|
|
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
|
|
|
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)
|
|
|
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
|
|
|
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)
|
|
|
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
|
|
|
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
|
|
|
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
|
|
|
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)
|
|
|
NM_002609.4(PDGFRB):c.360G>T (p.Val120=)
|
|
|
NM_002609.4(PDGFRB):c.364+15C>G
|
|
|
NM_002609.4(PDGFRB):c.365-13C>T
|
|
|
NM_002609.4(PDGFRB):c.365-5G>C
|
|
|
NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)
|
|
|
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
|
|
|
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
|
|
|
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)
|
|
|
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=)
|
rs751600349
|
|
NM_002609.4(PDGFRB):c.40+16A>G
|
|
|
NM_002609.4(PDGFRB):c.40+19_40+23del
|
|
|
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
|
|
|
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
|
|
|
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
|
|
|
NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)
|
|
|
NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)
|
|
|
NM_002609.4(PDGFRB):c.483C>T (p.His161=)
|
|
|
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)
|
rs1562011077
|
|
NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)
|
|
|
NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)
|
|
|
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
|
|
|
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)
|
|
|
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
|
|
|
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)
|
|
|
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
|
|
|
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)
|
|
|
NM_002609.4(PDGFRB):c.631+1G>A
|
rs111491260
|
|
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
|
|
|
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)
|
|
|
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=)
|
rs765554311
|
|
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
|
|
|
NM_002609.4(PDGFRB):c.760-10G>T
|
|
|
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)
|
|
|
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
|
|
|
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)
|
|
|
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
|
|
|
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
|
|
|
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)
|
|
|
NM_002609.4(PDGFRB):c.935-15G>A
|
|
|
NM_002609.4(PDGFRB):c.935-5T>C
|
|
|
NM_002609.4(PDGFRB):c.935-9C>T
|
|
|
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
|
|
|
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)
|
|
|
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
|
|
|
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
|
|
|
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
|
|
|
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
|
|
|
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)
|
rs2112474795
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_003000.2(SDHB):c.-151_*159del
|
|
|
NM_003000.2(SDHB):c.-81G>T
|
rs886045586
|
|
NM_003000.2(SDHB):c.201-?_765+?dup
|
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
NM_003000.3(SDHB):c.111C>G (p.Pro37=)
|
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.112del (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
NM_003000.3(SDHB):c.120G>A (p.Lys40=)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
NM_003000.3(SDHB):c.126del (p.Phe42fs)
|
rs878854572
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
NM_003000.3(SDHB):c.12G>A (p.Val4=)
|
rs768683606
|
|
NM_003000.3(SDHB):c.12G>C (p.Val4=)
|
rs768683606
|
|
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)
|
rs864321639
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
|
|
|
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)
|
rs1351034939
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.138A>G (p.Arg46=)
|
rs1392672185
|
|
NM_003000.3(SDHB):c.138A>T (p.Arg46=)
|
rs1392672185
|
|
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)
|
rs962717797
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
NM_003000.3(SDHB):c.146del (p.Pro49fs)
|
|
|
NM_003000.3(SDHB):c.147A>G (p.Pro49=)
|
rs2101541448
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)
|
rs1570958022
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
NM_003000.3(SDHB):c.15C>A (p.Val5=)
|
rs1182998682
|
|
NM_003000.3(SDHB):c.15C>G (p.Val5=)
|
rs1182998682
|
|
NM_003000.3(SDHB):c.15C>T (p.Val5=)
|
rs1182998682
|
|
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
NM_003000.3(SDHB):c.162C>T (p.Asp54=)
|
rs2101541392
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)
|
rs2101551903
|
|
NM_003000.3(SDHB):c.180T>A (p.Thr60=)
|
rs2101541350
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.189T>C (p.Val63=)
|
rs2101541333
|
|
NM_003000.3(SDHB):c.18C>G (p.Ala6=)
|
rs2746462
|
|
NM_003000.3(SDHB):c.18C>T (p.Ala6=)
|
rs2746462
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
NM_003000.3(SDHB):c.190del (p.Asp64fs)
|
rs1553178729
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)
|
rs876659329
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
NM_003000.3(SDHB):c.200+11C>T
|
|
|
NM_003000.3(SDHB):c.200+18A>T
|
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+1G>C
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.200+5G>T
|
rs1553178726
|
|
NM_003000.3(SDHB):c.200+9C>A
|
rs2101541285
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
NM_003000.3(SDHB):c.201-17A>G
|
rs2101529168
|
|
NM_003000.3(SDHB):c.201-18G>A
|
rs765108144
|
|
NM_003000.3(SDHB):c.201-18G>T
|
rs765108144
|
|
NM_003000.3(SDHB):c.201-1G>C
|
|
|
NM_003000.3(SDHB):c.201-20T>C
|
|
|
NM_003000.3(SDHB):c.201-2A>C
|
rs878854574
|
|
NM_003000.3(SDHB):c.201-4T>A
|
|
|
NM_003000.3(SDHB):c.201-6T>C
|
rs2101529151
|
|
NM_003000.3(SDHB):c.201-7T>G
|
rs2078032733
|
|
NM_003000.3(SDHB):c.201-9C>T
|
rs201108188
|
|
NM_003000.3(SDHB):c.201A>G (p.Lys67=)
|
rs1436421650
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
NM_003000.3(SDHB):c.207C>T (p.Gly69=)
|
rs2101529103
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
NM_003000.3(SDHB):c.216A>G (p.Val72=)
|
rs1570951479
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
NM_003000.3(SDHB):c.21C>A (p.Leu7=)
|
rs147815442
|
|
NM_003000.3(SDHB):c.21C>G (p.Leu7=)
|
rs147815442
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
|
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)
|
rs864321638
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)
|
rs1060503767
|
|
NM_003000.3(SDHB):c.22dup (p.Ser8fs)
|
rs2101551846
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
NM_003000.3(SDHB):c.234G>A (p.Lys78=)
|
rs776971836
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
NM_003000.3(SDHB):c.243T>C (p.Asn81=)
|
rs2101528976
|
|
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)
|
rs2101528972
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
NM_003000.3(SDHB):c.249T>C (p.Val83=)
|
rs1570951394
|
|
NM_003000.3(SDHB):c.249del (p.Asp84fs)
|
rs2101528951
|
|
NM_003000.3(SDHB):c.24C>G (p.Ser8=)
|
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)
|
rs864321637
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.252C>T (p.Asp84=)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)
|
rs2101528919
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
NM_003000.3(SDHB):c.25T>C (p.Leu9=)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
NM_003000.3(SDHB):c.264C>G (p.Thr88=)
|
rs41310416
|
|
NM_003000.3(SDHB):c.264C>T (p.Thr88=)
|
rs41310416
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.267C>T (p.Phe89=)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)
|
rs878854575
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
NM_003000.3(SDHB):c.276A>C (p.Ser92=)
|
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.279C>T (p.Cys93=)
|
rs2101528858
|
|
NM_003000.3(SDHB):c.27G>A (p.Leu9=)
|
rs2101551820
|
|
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
NM_003000.3(SDHB):c.286+15C>T
|
rs2078031756
|
|
NM_003000.3(SDHB):c.286+17T>C
|
|
|
NM_003000.3(SDHB):c.286+18G>C
|
rs1352485549
|
|
NM_003000.3(SDHB):c.286+18G>T
|
rs1352485549
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
NM_003000.3(SDHB):c.286+7A>G
|
rs747131231
|
|
NM_003000.3(SDHB):c.286+8T>C
|
rs2101528825
|
|
NM_003000.3(SDHB):c.286+9T>G
|
|
|
NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)
|
|
|
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)
|
rs587782243
|
|
NM_003000.3(SDHB):c.287-10_295del
|
|
|
NM_003000.3(SDHB):c.287-11G>A
|
rs2101523489
|
|
NM_003000.3(SDHB):c.287-13G>A
|
|
|
NM_003000.3(SDHB):c.287-16T>C
|
rs2078005658
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-20T>A
|
|
|
NM_003000.3(SDHB):c.287-20_287-18del
|
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.287-4del
|
rs2101523473
|
|
NM_003000.3(SDHB):c.287-8T>C
|
rs2101523482
|
|
NM_003000.3(SDHB):c.287-9C>A
|
|
|
NM_003000.3(SDHB):c.287-9C>G
|
rs775784091
|
|
NM_003000.3(SDHB):c.287-9C>T
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
|
|
|
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)
|
rs1553177768
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
NM_003000.3(SDHB):c.303T>C (p.Cys101=)
|
rs2101523383
|
|
NM_003000.3(SDHB):c.306A>G (p.Ala102=)
|
rs1553177766
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
NM_003000.3(SDHB):c.30G>A (p.Arg10=)
|
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
NM_003000.3(SDHB):c.315C>T (p.Ile105=)
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
NM_003000.3(SDHB):c.318T>C (p.Asn106=)
|
rs2101523320
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)
|
rs2101523248
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
NM_003000.3(SDHB):c.330T>C (p.Thr110=)
|
rs2101523275
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.331C>T (p.Leu111=)
|
|
|
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
|
rs1060503751
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.333A>G (p.Leu111=)
|
rs2101523252
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
NM_003000.3(SDHB):c.336T>C (p.Ala112=)
|
rs2101523242
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)
|
rs864321636
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.339C>T (p.Cys113=)
|
rs754582722
|
|
NM_003000.3(SDHB):c.33C>G (p.Arg11=)
|
rs146399542
|
|
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
NM_003000.3(SDHB):c.342C>A (p.Thr114=)
|
|
|
NM_003000.3(SDHB):c.342C>T (p.Thr114=)
|
rs528599830
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
NM_003000.3(SDHB):c.351T>A (p.Ile117=)
|
rs2101523192
|
|
NM_003000.3(SDHB):c.357C>T (p.Thr119=)
|
rs1553177749
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
NM_003000.3(SDHB):c.363C>T (p.Leu121=)
|
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
NM_003000.3(SDHB):c.36G>A (p.Arg12=)
|
rs754024341
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
NM_003000.3(SDHB):c.375A>G (p.Ser125=)
|
rs2101523080
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
NM_003000.3(SDHB):c.392del (p.Pro131fs)
|
rs1553177739
|
|
NM_003000.3(SDHB):c.393A>G (p.Pro131=)
|
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.396C>T (p.His132=)
|
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)
|
rs1557741425
|
|
NM_003000.3(SDHB):c.39G>A (p.Leu13=)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
NM_003000.3(SDHB):c.402T>C (p.Tyr134=)
|
rs2101522991
|
|
NM_003000.3(SDHB):c.405G>A (p.Val135=)
|
rs2101522982
|
|
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)
|
rs2078004347
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
NM_003000.3(SDHB):c.411G>A (p.Lys137=)
|
rs2078004300
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)
|
rs1570948527
|
|
NM_003000.3(SDHB):c.417T>C (p.Leu139=)
|
rs1570948513
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.423+10T>G
|
rs201600439
|
|
NM_003000.3(SDHB):c.423+11G>A
|
|
|
NM_003000.3(SDHB):c.423+11G>T
|
rs2101522890
|
|
NM_003000.3(SDHB):c.423+12C>T
|
rs2078004107
|
|
NM_003000.3(SDHB):c.423+13A>G
|
|
|
NM_003000.3(SDHB):c.423+15CT[2]
|
rs778120334
|
|
NM_003000.3(SDHB):c.423+17C>T
|
rs2101522881
|
|
NM_003000.3(SDHB):c.423+18T>G
|
rs2101522874
|
|
NM_003000.3(SDHB):c.423+19C>G
|
|
|
NM_003000.3(SDHB):c.423+19C>T
|
|
|
NM_003000.3(SDHB):c.423+1G>T
|
rs398122805
|
|
NM_003000.3(SDHB):c.423+20T>C
|
rs190139590
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
NM_003000.3(SDHB):c.423+7T>C
|
rs2101522903
|
|
NM_003000.3(SDHB):c.423+8T>C
|
rs2101522899
|
|
NM_003000.3(SDHB):c.423+8T>G
|
rs2101522899
|
|
NM_003000.3(SDHB):c.423+9C>G
|
rs1570948499
|
|
NM_003000.3(SDHB):c.423+9C>T
|
rs1570948499
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
NM_003000.3(SDHB):c.424-10T>G
|
|
|
NM_003000.3(SDHB):c.424-12T>C
|
|
|
NM_003000.3(SDHB):c.424-13C>G
|
|
|
NM_003000.3(SDHB):c.424-13C>T
|
|
|
NM_003000.3(SDHB):c.424-13_424-11dup
|
rs1365741915
|
|
NM_003000.3(SDHB):c.424-13del
|
|
|
NM_003000.3(SDHB):c.424-14_424-13insCTC
|
|
|
NM_003000.3(SDHB):c.424-14_424-9del
|
|
|
NM_003000.3(SDHB):c.424-14_424-9dup
|
rs1064794554
|
|
NM_003000.3(SDHB):c.424-16T>C
|
|
|
NM_003000.3(SDHB):c.424-17_424-9del
|
rs2101521957
|
|
NM_003000.3(SDHB):c.424-19T>C
|
rs201836574
|
|
NM_003000.3(SDHB):c.424-1G>A
|
rs1131691060
|
|
NM_003000.3(SDHB):c.424-2A>G
|
rs2101521922
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[11]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[5]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
NM_003000.3(SDHB):c.424-5C>G
|
rs1553177690
|
|
NM_003000.3(SDHB):c.424-5C>T
|
|
|
NM_003000.3(SDHB):c.424-6dup
|
rs2101521941
|
|
NM_003000.3(SDHB):c.424-7A>C
|
rs1570948064
|
|
NM_003000.3(SDHB):c.424-7A>T
|
rs1570948064
|
|
NM_003000.3(SDHB):c.424-9T>G
|
|
|
NM_003000.3(SDHB):c.424G>A (p.Asp142Asn)
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)
|
rs2101551748
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
NM_003000.3(SDHB):c.435C>T (p.Asn145=)
|
rs2101521900
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
|
rs1060503763
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
NM_003000.3(SDHB):c.444A>T (p.Ala148=)
|
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)
|
rs2101521836
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
NM_003000.3(SDHB):c.447G>A (p.Gln149=)
|
rs200353146
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)
|
rs2101521812
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.453A>G (p.Lys151=)
|
rs1570947967
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
NM_003000.3(SDHB):c.456C>A (p.Ser152=)
|
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
NM_003000.3(SDHB):c.459T>C (p.Ile153=)
|
|
|
NM_003000.3(SDHB):c.45C>T (p.Ala15=)
|
rs764875162
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
NM_003000.3(SDHB):c.465T>C (p.Pro155=)
|
rs1553177685
|
|
NM_003000.3(SDHB):c.466del (p.Tyr156fs)
|
rs2101521760
|
|
NM_003000.3(SDHB):c.468T>C (p.Tyr156=)
|
rs199718947
|
|
NM_003000.3(SDHB):c.469T>C (p.Leu157=)
|
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
NM_003000.3(SDHB):c.473del (p.Lys158fs)
|
|
|
NM_003000.3(SDHB):c.477G>A (p.Lys159=)
|
rs2101521741
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
NM_003000.3(SDHB):c.480G>A (p.Lys160=)
|
rs1553177683
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)
|
rs2101521715
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
NM_003000.3(SDHB):c.48A>C (p.Thr16=)
|
rs1570963474
|
|
NM_003000.3(SDHB):c.491del (p.Gln164fs)
|
rs1553177678
|
|
NM_003000.3(SDHB):c.492G>A (p.Gln164=)
|
rs2101521670
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)
|
rs1060503753
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
NM_003000.3(SDHB):c.501G>A (p.Lys167=)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.507G>A (p.Gln169=)
|
rs2101521627
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
NM_003000.3(SDHB):c.511C>T (p.Leu171=)
|
rs780870337
|
|
NM_003000.3(SDHB):c.513G>A (p.Leu171=)
|
rs2101521615
|
|
NM_003000.3(SDHB):c.516G>A (p.Gln172=)
|
rs138937650
|
|
NM_003000.3(SDHB):c.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
NM_003000.3(SDHB):c.51C>G (p.Thr17=)
|
|
|
NM_003000.3(SDHB):c.51C>T (p.Thr17=)
|
rs550555402
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
NM_003000.3(SDHB):c.523dup (p.Glu175fs)
|
rs2077999421
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
NM_003000.3(SDHB):c.534G>A (p.Glu178=)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
NM_003000.3(SDHB):c.537dup (p.Leu180fs)
|
rs1553177669
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
NM_003000.3(SDHB):c.540+11C>G
|
|
|
NM_003000.3(SDHB):c.540+12C>G
|
rs2077999115
|
|
NM_003000.3(SDHB):c.540+12C>T
|
rs2077999115
|
|
NM_003000.3(SDHB):c.540+13T>C
|
rs2101521499
|
|
NM_003000.3(SDHB):c.540+16T>C
|
|
|
NM_003000.3(SDHB):c.540+1G>A
|
rs1553177667
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
NM_003000.3(SDHB):c.540+8G>A
|
rs2077999169
|
|
NM_003000.3(SDHB):c.540_540+13del
|
rs1553177666
|
|
NM_003000.3(SDHB):c.541-10C>T
|
rs200004039
|
|
NM_003000.3(SDHB):c.541-11T>C
|
rs1014439132
|
|
NM_003000.3(SDHB):c.541-12C>T
|
|
|
NM_003000.3(SDHB):c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC
|
|
|
NM_003000.3(SDHB):c.541-14T>C
|
|
|
NM_003000.3(SDHB):c.541-14_541-13del
|
rs2101516735
|
|
NM_003000.3(SDHB):c.541-16T>G
|
|
|
NM_003000.3(SDHB):c.541-17C>G
|
|
|
NM_003000.3(SDHB):c.541-18_541-8dup
|
rs1553177448
|
|
NM_003000.3(SDHB):c.541-21CT[2]
|
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.541-30_541-2dup
|
rs751159957
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
NM_003000.3(SDHB):c.541-4A>T
|
rs2077978890
|
|
NM_003000.3(SDHB):c.541-5T>C
|
rs2101516704
|
|
NM_003000.3(SDHB):c.541-6A>G
|
rs1195530396
|
|
NM_003000.3(SDHB):c.541-6A>T
|
rs1195530396
|
|
NM_003000.3(SDHB):c.541-7C>G
|
rs201558574
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
NM_003000.3(SDHB):c.541-8C>T
|
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
NM_003000.3(SDHB):c.546G>A (p.Gly182=)
|
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
NM_003000.3(SDHB):c.549C>T (p.Leu183=)
|
rs1411654404
|
|
NM_003000.3(SDHB):c.54T>C (p.Leu18=)
|
rs759446168
|
|
NM_003000.3(SDHB):c.54T>G (p.Leu18=)
|
rs759446168
|
|
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)
|
rs1553177442
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.555G>A (p.Glu185=)
|
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.558C>T (p.Cys186=)
|
rs1570945906
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.564C>T (p.Leu188=)
|
rs776487215
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)
|
rs2101516550
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
NM_003000.3(SDHB):c.570C>G (p.Ala190=)
|
rs2101516535
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
NM_003000.3(SDHB):c.57C>T (p.Gly19=)
|
rs1326601709
|
|
NM_003000.3(SDHB):c.582C>G (p.Thr194=)
|
rs775450654
|
|
NM_003000.3(SDHB):c.582C>T (p.Thr194=)
|
rs775450654
|
|
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)
|
rs2101516484
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.588C>T (p.Cys196=)
|
rs1060505015
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
NM_003000.3(SDHB):c.591C>T (p.Pro197=)
|
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
NM_003000.3(SDHB):c.597C>T (p.Tyr199=)
|
rs1570945852
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
NM_003000.3(SDHB):c.598del (p.Trp200fs)
|
rs2101516424
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)
|
rs1060503759
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
|
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
NM_003000.3(SDHB):c.608del (p.Gly203fs)
|
rs1553177436
|
|
NM_003000.3(SDHB):c.609A>C (p.Gly203=)
|
rs1570945818
|
|
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)
|
rs1570945796
|
|
NM_003000.3(SDHB):c.60A>C (p.Gly20=)
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
NM_003000.3(SDHB):c.619C>T (p.Leu207=)
|
rs1570945806
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)
|
rs1060503752
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
NM_003000.3(SDHB):c.627T>C (p.Pro209=)
|
rs1060505016
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.630A>C (p.Ala210=)
|
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.636T>C (p.Leu212=)
|
rs778439194
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637dup (p.Met213fs)
|
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
NM_003000.3(SDHB):c.63C>G (p.Ala21=)
|
rs1557749647
|
|
NM_003000.3(SDHB):c.63dup (p.Cys22fs)
|
rs1570963451
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
NM_003000.3(SDHB):c.642+10T>A
|
rs780427803
|
|
NM_003000.3(SDHB):c.642+10T>C
|
rs780427803
|
|
NM_003000.3(SDHB):c.642+10T>G
|
|
|
NM_003000.3(SDHB):c.642+14_642+25del
|
rs763857045
|
|
NM_003000.3(SDHB):c.642+1G>A
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642+20C>G
|
|
|
NM_003000.3(SDHB):c.642+2T>G
|
rs1553177424
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
NM_003000.3(SDHB):c.642+8G>A
|
|
|
NM_003000.3(SDHB):c.642+9C>G
|
rs2077977174
|
|
NM_003000.3(SDHB):c.642+9C>T
|
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
NM_003000.3(SDHB):c.643-11T>C
|
|
|
NM_003000.3(SDHB):c.643-11T>G
|
|
|
NM_003000.3(SDHB):c.643-12C>G
|
rs2101514078
|
|
NM_003000.3(SDHB):c.643-14C>A
|
|
|
NM_003000.3(SDHB):c.643-15T>C
|
|
|
NM_003000.3(SDHB):c.643-15del
|
|
|
NM_003000.3(SDHB):c.643-16A>G
|
|
|
NM_003000.3(SDHB):c.643-17C>T
|
rs2101514084
|
|
NM_003000.3(SDHB):c.643-20_643-18dup
|
|
|
NM_003000.3(SDHB):c.643-4dup
|
rs1570944969
|
|
NM_003000.3(SDHB):c.643-8T>C
|
rs2101514064
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
NM_003000.3(SDHB):c.643-9G>A
|
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)
|
rs200245469
|
|
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)
|
rs747518441
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)
|
rs1570944850
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
NM_003000.3(SDHB):c.662A>G (p.Asp221Gly)
|
rs2101513961
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
|
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
NM_003000.3(SDHB):c.672T>C (p.Asp224=)
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
NM_003000.3(SDHB):c.675C>T (p.Asp225=)
|
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
NM_003000.3(SDHB):c.677del (p.Phe226fs)
|
rs2077968833
|
|
NM_003000.3(SDHB):c.678C>T (p.Phe226=)
|
rs1570944907
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
NM_003000.3(SDHB):c.67C>T (p.Leu23=)
|
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
NM_003000.3(SDHB):c.684G>A (p.Glu228=)
|
rs2101513893
|
|
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)
|
rs1209914140
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
NM_003000.3(SDHB):c.690C>A (p.Arg230=)
|
|
|
NM_003000.3(SDHB):c.693G>A (p.Leu231=)
|
rs2101513857
|
|
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)
|
rs1553177285
|
|
NM_003000.3(SDHB):c.699G>A (p.Lys233=)
|
|
|
NM_003000.3(SDHB):c.69G>C (p.Leu23=)
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
NM_003000.3(SDHB):c.702G>A (p.Leu234=)
|
|
|
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
|
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)
|
rs1570963430
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
NM_003000.3(SDHB):c.711A>C (p.Pro237=)
|
rs1570944839
|
|
NM_003000.3(SDHB):c.711A>G (p.Pro237=)
|
rs1570944839
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003000.3(SDHB):c.717T>A (p.Ser239=)
|
rs2101513742
|
|
NM_003000.3(SDHB):c.717T>C (p.Ser239=)
|
rs2101513742
|
|
NM_003000.3(SDHB):c.717dup (p.Leu240fs)
|
rs1060503764
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+10G>A
|
rs2101551608
|
|
NM_003000.3(SDHB):c.72+10G>C
|
rs2101551608
|
|
NM_003000.3(SDHB):c.72+13G>T
|
|
|
NM_003000.3(SDHB):c.72+14C>T
|
rs1321607765
|
|
NM_003000.3(SDHB):c.72+15C>T
|
|
|
NM_003000.3(SDHB):c.72+17C>G
|
rs1031878905
|
|
NM_003000.3(SDHB):c.72+18A>C
|
|
|
NM_003000.3(SDHB):c.72+19G>C
|
rs1466555262
|
|
NM_003000.3(SDHB):c.72+1G>A
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
NM_003000.3(SDHB):c.72+7C>A
|
rs1553179311
|
|
NM_003000.3(SDHB):c.72+7C>G
|
|
|
NM_003000.3(SDHB):c.72+7C>T
|
rs1553179311
|
|
NM_003000.3(SDHB):c.72+8C>G
|
rs1570963404
|
|
NM_003000.3(SDHB):c.72+8C>T
|
rs1570963404
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
NM_003000.3(SDHB):c.723C>T (p.Tyr241=)
|
rs878854583
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)
|
rs2101513669
|
|
NM_003000.3(SDHB):c.729C>T (p.Cys243=)
|
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.73-10A>C
|
rs376494419
|
|
NM_003000.3(SDHB):c.73-13T>C
|
rs769480915
|
|
NM_003000.3(SDHB):c.73-13T>G
|
rs769480915
|
|
NM_003000.3(SDHB):c.73-14T>A
|
|
|
NM_003000.3(SDHB):c.73-17A>C
|
rs2101541691
|
|
NM_003000.3(SDHB):c.73-17del
|
|
|
NM_003000.3(SDHB):c.73-19G>A
|
|
|
NM_003000.3(SDHB):c.73-1G>A
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-20T>G
|
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-7A>C
|
rs770733541
|
|
NM_003000.3(SDHB):c.73-7del
|
rs2101541662
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
NM_003000.3(SDHB):c.732C>T (p.His244=)
|
rs1570944785
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.738C>T (p.Ile246=)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
NM_003000.3(SDHB):c.743_765+36del
|
rs2101513438
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
NM_003000.3(SDHB):c.753G>A (p.Arg251=)
|
rs201094649
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
NM_003000.3(SDHB):c.756C>T (p.Thr252=)
|
|
|
NM_003000.3(SDHB):c.756_765+4del
|
rs1553177267
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.759T>C (p.Cys253=)
|
rs2101513546
|
|
NM_003000.3(SDHB):c.75del (p.Ser26fs)
|
rs2101541632
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.761_765+33del
|
rs2077967597
|
|
NM_003000.3(SDHB):c.762T>C (p.Pro254=)
|
rs2101513519
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
NM_003000.3(SDHB):c.765+14G>C
|
rs1334964001
|
|
NM_003000.3(SDHB):c.765+16G>A
|
rs1233279059
|
|
NM_003000.3(SDHB):c.765+16G>T
|
|
|
NM_003000.3(SDHB):c.765+1G>A
|
rs2101513511
|
|
NM_003000.3(SDHB):c.765+20C>T
|
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
NM_003000.3(SDHB):c.765+8G>A
|
rs1553177265
|
|
NM_003000.3(SDHB):c.765+8G>T
|
rs1553177265
|
|
NM_003000.3(SDHB):c.765+9G>A
|
|
|
NM_003000.3(SDHB):c.765+9G>T
|
|
|
NM_003000.3(SDHB):c.766-11C>G
|
|
|
NM_003000.3(SDHB):c.766-14T>C
|
|
|
NM_003000.3(SDHB):c.766-18C>G
|
|
|
NM_003000.3(SDHB):c.766-18C>T
|
|
|
NM_003000.3(SDHB):c.766-19del
|
rs1553176985
|
|
NM_003000.3(SDHB):c.766-21_766-19del
|
|
|
NM_003000.3(SDHB):c.766-4C>A
|
|
|
NM_003000.3(SDHB):c.766-5T>C
|
rs2101508325
|
|
NM_003000.3(SDHB):c.766-6T>C
|
rs1553176984
|
|
NM_003000.3(SDHB):c.768T>C (p.Gly256=)
|
rs1060505017
|
|
NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
NM_003000.3(SDHB):c.777A>G (p.Pro259=)
|
|
|
NM_003000.3(SDHB):c.777A>T (p.Pro259=)
|
rs2101508283
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.784del (p.Ala262fs)
|
|
|
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)
|
rs1553176979
|
|
NM_003000.3(SDHB):c.786T>C (p.Ala262=)
|
rs768118230
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
NM_003000.3(SDHB):c.789T>C (p.Ile263=)
|
rs1395418494
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
NM_003000.3(SDHB):c.798C>T (p.Ile266=)
|
rs760042733
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
NM_003000.3(SDHB):c.816C>G (p.Thr272=)
|
rs1454454086
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
NM_003000.3(SDHB):c.819T>C (p.Tyr273=)
|
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
NM_003000.3(SDHB):c.837A>G (p.Ser279=)
|
rs770120161
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
|
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
NM_003000.3(SDHB):c.90G>A (p.Gln30=)
|
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
NM_003000.3(SDHB):c.93A>T (p.Thr31=)
|
rs2101541592
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
NM_003000.3(SDHB):c.96T>C (p.Ala32=)
|
|
|
NM_003000.3(SDHB):c.96T>G (p.Ala32=)
|
rs1484330671
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
NM_003000.3(SDHB):c.9G>A (p.Ala3=)
|
rs1350879010
|
|
NM_003000.3(SDHB):c.9G>C (p.Ala3=)
|
rs1350879010
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003001.4(SDHC):c.*1012G>T
|
rs886045484
|
|
NM_003001.4(SDHC):c.*1314C>A
|
rs376293449
|
|
NM_003001.4(SDHC):c.*1332C>A
|
rs886045485
|
|
NM_003001.4(SDHC):c.*1534G>T
|
rs886045487
|
|
NM_003001.4(SDHC):c.*1584C>G
|
rs886045488
|
|
NM_003001.4(SDHC):c.*1695G>T
|
rs886045489
|
|
NM_003001.4(SDHC):c.*1784G>C
|
rs886045491
|
|
NM_003001.4(SDHC):c.*1843C>A
|
rs886045492
|
|
NM_003001.4(SDHC):c.*1898C>A
|
rs886045493
|
|
NM_003001.4(SDHC):c.*2141C>A
|
rs886045494
|
|
NM_003001.4(SDHC):c.*2236C>A
|
rs886045495
|
|
NM_003001.4(SDHC):c.*2264G>T
|
rs886045496
|
|
NM_003001.5(SDHC):c.*527G>T
|
rs886045481
|
|
NM_003001.5(SDHC):c.21-10dup
|
rs759481419
|
|
NM_003001.5(SDHC):c.406-13del
|
rs752685687
|
|
NM_003002.3(SDHD):c.-84_*831del
|
|
|
NM_003002.4(SDHD):c.*340A>G
|
rs201280702
|
|
NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.107A>C (p.Gln36Pro)
|
rs759143732
|
|
NM_003002.4(SDHD):c.108G>T (p.Gln36His)
|
rs766884646
|
|
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)
|
rs1865654125
|
|
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
|
|
|
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)
|
rs1032016970
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
NM_003002.4(SDHD):c.110A>T (p.Asp37Val)
|
rs1865654258
|
|
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)
|
rs199901239
|
|
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
|
rs1865654197
|
|
NM_003002.4(SDHD):c.114A>G (p.Arg38=)
|
rs1555186794
|
|
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)
|
rs1043566340
|
|
NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)
|
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
|
rs1592778916
|
|
NM_003002.4(SDHD):c.120C>G (p.Ile40Met)
|
rs2135267285
|
|
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala)
|
rs764006625
|
|
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser)
|
rs764006625
|
|
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
|
|
|
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)
|
rs1865655347
|
|
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)
|
|
|
NM_003002.4(SDHD):c.126A>G (p.Glu42=)
|
rs2135267333
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.12C>T (p.Leu4=)
|
rs2135264636
|
|
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr)
|
rs1566692479
|
|
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
|
|
|
NM_003002.4(SDHD):c.136G>A (p.Val46Met)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136G>T (p.Val46Leu)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
|
|
|
NM_003002.4(SDHD):c.138G>A (p.Val46=)
|
rs2135267384
|
|
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)
|
rs1865655722
|
|
NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)
|
|
|
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)
|
rs1566690018
|
|
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg)
|
rs899706404
|
|
NM_003002.4(SDHD):c.145A>G (p.Ile49Val)
|
|
|
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr)
|
rs1555186808
|
|
NM_003002.4(SDHD):c.147A>G (p.Ile49Met)
|
rs1566692534
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
|
rs104894310
|
|
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
|
|
|
NM_003002.4(SDHD):c.150C>G (p.His50Gln)
|
|
|
NM_003002.4(SDHD):c.150C>T (p.His50=)
|
|
|
NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)
|
|
|
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
|
rs587782210
|
|
NM_003002.4(SDHD):c.155C>T (p.Ser52Leu)
|
rs587782210
|
|
NM_003002.4(SDHD):c.156_158del (p.Pro53del)
|
|
|
NM_003002.4(SDHD):c.157C>G (p.Pro53Ala)
|
rs1865656629
|
|
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
|
|
|
NM_003002.4(SDHD):c.160A>C (p.Ser54Arg)
|
rs2135267524
|
|
NM_003002.4(SDHD):c.164A>G (p.His55Arg)
|
|
|
NM_003002.4(SDHD):c.164A>T (p.His55Leu)
|
rs1865656869
|
|
NM_003002.4(SDHD):c.165C>T (p.His55=)
|
rs1592779061
|
|
NM_003002.4(SDHD):c.167A>G (p.His56Arg)
|
rs1555186817
|
|
NM_003002.4(SDHD):c.168T>A (p.His56Gln)
|
rs1865657093
|
|
NM_003002.4(SDHD):c.169+11T>C
|
|
|
NM_003002.4(SDHD):c.169+16C>T
|
|
|
NM_003002.4(SDHD):c.169+1G>A
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+1G>T
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+20G>T
|
|
|
NM_003002.4(SDHD):c.169+3A>G
|
rs1865657168
|
|
NM_003002.4(SDHD):c.169+5G>C
|
rs1865657237
|
|
NM_003002.4(SDHD):c.169+7TC[2]
|
|
|
NM_003002.4(SDHD):c.169+8C>T
|
rs1592779083
|
|
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
|
rs11547889
|
|
NM_003002.4(SDHD):c.170-10C>A
|
|
|
NM_003002.4(SDHD):c.170-10C>T
|
rs952278127
|
|
NM_003002.4(SDHD):c.170-11C>T
|
rs2135269102
|
|
NM_003002.4(SDHD):c.170-12T>A
|
|
|
NM_003002.4(SDHD):c.170-13G>A
|
rs1447202823
|
|
NM_003002.4(SDHD):c.170-14G>C
|
rs919536825
|
|
NM_003002.4(SDHD):c.170-18del
|
rs766754598
|
|
NM_003002.4(SDHD):c.170-1G>T
|
rs1306475361
|
|
NM_003002.4(SDHD):c.170-20G>A
|
rs2135269091
|
|
NM_003002.4(SDHD):c.170-20G>C
|
|
|
NM_003002.4(SDHD):c.170-20G>T
|
rs2135269091
|
|
NM_003002.4(SDHD):c.170-2A>G
|
|
|
NM_003002.4(SDHD):c.170-5T>A
|
rs1218549926
|
|
NM_003002.4(SDHD):c.170-6T>G
|
rs753703004
|
|
NM_003002.4(SDHD):c.170-8T>A
|
rs2135269114
|
|
NM_003002.4(SDHD):c.170-9T>C
|
rs1592780269
|
|
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)
|
|
|
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe)
|
rs2135269128
|
|
NM_003002.4(SDHD):c.171T>C (p.Ser57=)
|
rs2135269133
|
|
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser)
|
rs1865684789
|
|
NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)
|
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
|
rs1592780300
|
|
NM_003002.4(SDHD):c.177C>T (p.Ser59=)
|
rs764869982
|
|
NM_003002.4(SDHD):c.179A>C (p.Lys60Thr)
|
|
|
NM_003002.4(SDHD):c.179A>G (p.Lys60Arg)
|
|
|
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)
|
|
|
NM_003002.4(SDHD):c.180G>A (p.Lys60=)
|
rs750688879
|
|
NM_003002.4(SDHD):c.181G>C (p.Ala61Pro)
|
|
|
NM_003002.4(SDHD):c.182C>T (p.Ala61Val)
|
|
|
NM_003002.4(SDHD):c.183T>C (p.Ala61=)
|
rs2135269188
|
|
NM_003002.4(SDHD):c.186A>T (p.Ala62=)
|
rs11547899
|
|
NM_003002.4(SDHD):c.189T>C (p.Ser63=)
|
|
|
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser)
|
rs200895313
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.190C>G (p.Leu64Val)
|
|
|
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)
|
rs387906358
|
|
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
|
|
|
NM_003002.4(SDHD):c.192C>G (p.Leu64=)
|
rs1592780337
|
|
NM_003002.4(SDHD):c.194A>G (p.His65Arg)
|
rs780226013
|
|
NM_003002.4(SDHD):c.195C>T (p.His65=)
|
rs11547893
|
|
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala)
|
rs2135269250
|
|
NM_003002.4(SDHD):c.19C>T (p.Leu7=)
|
rs1337542194
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
|
rs1592780362
|
|
NM_003002.4(SDHD):c.201T>C (p.Thr67=)
|
rs2135269268
|
|
NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)
|
|
|
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)
|
|
|
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)
|
rs1865686266
|
|
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
|
|
|
NM_003002.4(SDHD):c.207G>A (p.Glu69=)
|
rs1592780392
|
|
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.211G>T (p.Val71Phe)
|
rs1428042303
|
|
NM_003002.4(SDHD):c.213T>G (p.Val71=)
|
|
|
NM_003002.4(SDHD):c.216C>G (p.Val72=)
|
rs1592780438
|
|
NM_003002.4(SDHD):c.216C>T (p.Val72=)
|
|
|
NM_003002.4(SDHD):c.219T>C (p.Ser73=)
|
rs2135269373
|
|
NM_003002.4(SDHD):c.21G>T (p.Leu7=)
|
|
|
NM_003002.4(SDHD):c.220G>A (p.Val74Ile)
|
|
|
NM_003002.4(SDHD):c.223T>C (p.Leu75=)
|
rs2135269384
|
|
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser)
|
rs1060503777
|
|
NM_003002.4(SDHD):c.224del (p.Leu75fs)
|
rs2135269378
|
|
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe)
|
rs1865687714
|
|
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe)
|
rs1865687801
|
|
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro)
|
rs1865687896
|
|
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)
|
rs1865619629
|
|
NM_003002.4(SDHD):c.231G>A (p.Leu77=)
|
rs1187106228
|
|
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)
|
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
NM_003002.4(SDHD):c.233G>T (p.Gly78Val)
|
rs1865688426
|
|
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
|
rs1592780488
|
|
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)
|
rs1555187010
|
|
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)
|
rs558914063
|
|
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
|
|
|
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)
|
rs80338844
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro)
|
rs745559875
|
|
NM_003002.4(SDHD):c.244G>T (p.Ala82Ser)
|
rs745559875
|
|
NM_003002.4(SDHD):c.246T>A (p.Ala82=)
|
|
|
NM_003002.4(SDHD):c.246T>C (p.Ala82=)
|
rs2135269508
|
|
NM_003002.4(SDHD):c.246T>G (p.Ala82=)
|
|
|
NM_003002.4(SDHD):c.247G>A (p.Ala83Thr)
|
|
|
NM_003002.4(SDHD):c.248C>T (p.Ala83Val)
|
rs370165653
|
|
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
|
|
|
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)
|
rs199517389
|
|
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser)
|
rs1279566824
|
|
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
|
rs772671893
|
|
NM_003002.4(SDHD):c.260C>A (p.Pro87His)
|
|
|
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
|
|
|
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
|
rs1592780559
|
|
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
|
|
|
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
|
rs765102002
|
|
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu)
|
rs1555187033
|
|
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)
|
rs200255724
|
|
NM_003002.4(SDHD):c.269C>G (p.Ala90Gly)
|
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
|
rs1592777287
|
|
NM_003002.4(SDHD):c.26C>T (p.Ala9Val)
|
rs1592777287
|
|
NM_003002.4(SDHD):c.270G>C (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.270G>T (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.271A>T (p.Met91Leu)
|
rs2135269615
|
|
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
|
rs1592780595
|
|
NM_003002.4(SDHD):c.272T>C (p.Met91Thr)
|
|
|
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
|
|
|
NM_003002.4(SDHD):c.274G>A (p.Asp92Asn)
|
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)
|
|
|
NM_003002.4(SDHD):c.276C>T (p.Asp92=)
|
rs2135269643
|
|
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
|
rs1592780620
|
|
NM_003002.4(SDHD):c.27C>A (p.Ala9=)
|
rs1555186670
|
|
NM_003002.4(SDHD):c.27C>G (p.Ala9=)
|
|
|
NM_003002.4(SDHD):c.27C>T (p.Ala9=)
|
rs1555186670
|
|
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
|
rs199754684
|
|
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)
|
rs2135269697
|
|
NM_003002.4(SDHD):c.282C>G (p.Ser94=)
|
rs781182616
|
|
NM_003002.4(SDHD):c.283C>G (p.Leu95Val)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283C>T (p.Leu95=)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283del (p.Leu95fs)
|
rs2135269692
|
|
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr)
|
rs1265437700
|
|
NM_003002.4(SDHD):c.288T>C (p.Ala96=)
|
rs2135269735
|
|
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
|
|
|
NM_003002.4(SDHD):c.288_290del (p.Ala98del)
|
rs1566694825
|
|
NM_003002.4(SDHD):c.288del (p.Ala97fs)
|
rs2135269740
|
|
NM_003002.4(SDHD):c.28G>A (p.Val10Ile)
|
rs1555186671
|
|
NM_003002.4(SDHD):c.290C>T (p.Ala97Val)
|
rs756533450
|
|
NM_003002.4(SDHD):c.291A>C (p.Ala97=)
|
rs1592780682
|
|
NM_003002.4(SDHD):c.292G>C (p.Ala98Pro)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.295C>G (p.Leu99Val)
|
rs1865692425
|
|
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala)
|
rs1555187065
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile)
|
rs557454864
|
|
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
|
|
|
NM_003002.4(SDHD):c.301C>G (p.Leu101Val)
|
rs1165258369
|
|
NM_003002.4(SDHD):c.302T>A (p.Leu101His)
|
rs2135269810
|
|
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
|
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)
|
|
|
NM_003002.4(SDHD):c.308G>A (p.Gly103Asp)
|
|
|
NM_003002.4(SDHD):c.313T>C (p.Trp105Arg)
|
|
|
NM_003002.4(SDHD):c.314+13A>G
|
|
|
NM_003002.4(SDHD):c.314+15T>A
|
|
|
NM_003002.4(SDHD):c.314+17C>T
|
|
|
NM_003002.4(SDHD):c.314+18A>C
|
|
|
NM_003002.4(SDHD):c.314+19A>G
|
|
|
NM_003002.4(SDHD):c.314+1G>A
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+1G>T
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+20del
|
rs755475561
|
|
NM_003002.4(SDHD):c.314+2C>T
|
rs1340664447
|
|
NM_003002.4(SDHD):c.314+3A>C
|
rs1555187084
|
|
NM_003002.4(SDHD):c.314+4A>G
|
rs1592780789
|
|
NM_003002.4(SDHD):c.314+5G>A
|
rs1566695035
|
|
NM_003002.4(SDHD):c.314+6T>C
|
rs1555187085
|
|
NM_003002.4(SDHD):c.314+7A>T
|
rs2135269897
|
|
NM_003002.4(SDHD):c.314+8T>C
|
rs199645781
|
|
NM_003002.4(SDHD):c.314+8T>G
|
rs199645781
|
|
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
NM_003002.4(SDHD):c.315-12C>A
|
|
|
NM_003002.4(SDHD):c.315-12dup
|
|
|
NM_003002.4(SDHD):c.315-13del
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-13dup
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-16T>G
|
|
|
NM_003002.4(SDHD):c.315-18T>A
|
rs1260988180
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
NM_003002.4(SDHD):c.315-2A>G
|
rs2135277333
|
|
NM_003002.4(SDHD):c.315-2A>T
|
|
|
NM_003002.4(SDHD):c.315-3T>C
|
rs1555187565
|
|
NM_003002.4(SDHD):c.315-3del
|
rs1566702297
|
|
NM_003002.4(SDHD):c.315-4T>G
|
rs944726340
|
|
NM_003002.4(SDHD):c.315-7_315-5delinsAAA
|
rs1060503775
|
|
NM_003002.4(SDHD):c.315-8T>C
|
rs1592786101
|
|
NM_003002.4(SDHD):c.315-9T>G
|
rs911853469
|
|
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
|
rs1060503769
|
|
NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)
|
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.318C>A (p.Gly106=)
|
rs878854592
|
|
NM_003002.4(SDHD):c.318C>T (p.Gly106=)
|
rs878854592
|
|
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe)
|
rs1209781530
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
|
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)
|
rs1555187580
|
|
NM_003002.4(SDHD):c.331G>C (p.Val111Leu)
|
|
|
NM_003002.4(SDHD):c.332T>C (p.Val111Ala)
|
rs1592786183
|
|
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala)
|
rs1865809730
|
|
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
|
|
|
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)
|
rs1555187583
|
|
NM_003002.4(SDHD):c.337G>C (p.Asp113His)
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.338A>G (p.Asp113Gly)
|
rs786202513
|
|
NM_003002.4(SDHD):c.338A>T (p.Asp113Val)
|
rs786202513
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
|
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003002.4(SDHD):c.346C>T (p.His116Tyr)
|
rs2135277443
|
|
NM_003002.4(SDHD):c.347A>T (p.His116Leu)
|
rs2135277447
|
|
NM_003002.4(SDHD):c.348T>C (p.His116=)
|
rs2135277453
|
|
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)
|
|
|
NM_003002.4(SDHD):c.351G>T (p.Gly117=)
|
rs1566702512
|
|
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)
|
rs1865810526
|
|
NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)
|
|
|
NM_003002.4(SDHD):c.352del (p.Asp118fs)
|
rs1131691064
|
|
NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)
|
|
|
NM_003002.4(SDHD):c.354T>C (p.Asp118=)
|
rs911663426
|
|
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)
|
rs911663426
|
|
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser)
|
rs930768406
|
|
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
|
rs758784300
|
|
NM_003002.4(SDHD):c.357C>T (p.Ala119=)
|
rs2135277494
|
|
NM_003002.4(SDHD):c.35G>T (p.Gly12Val)
|
rs764384503
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.363G>A (p.Gln121=)
|
rs2135277509
|
|
NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)
|
|
|
NM_003002.4(SDHD):c.369T>C (p.Ala123=)
|
rs747779190
|
|
NM_003002.4(SDHD):c.36T>G (p.Gly12=)
|
rs1592777328
|
|
NM_003002.4(SDHD):c.370G>A (p.Ala124Thr)
|
rs1865811145
|
|
NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)
|
|
|
NM_003002.4(SDHD):c.371C>T (p.Ala124Val)
|
rs1865811210
|
|
NM_003002.4(SDHD):c.372C>G (p.Ala124=)
|
rs2135277535
|
|
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
|
rs1592786256
|
|
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
|
|
|
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr)
|
rs1592786265
|
|
NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)
|
|
|
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)
|
|
|
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
|
|
|
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr)
|
rs940936212
|
|
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser)
|
rs940936212
|
|
NM_003002.4(SDHD):c.380G>A (p.Gly127Glu)
|
|
|
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
|
|
|
NM_003002.4(SDHD):c.381del (p.Leu128fs)
|
rs1555187601
|
|
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)
|
rs201726097
|
|
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)
|
rs201726097
|
|
NM_003002.4(SDHD):c.386del (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser)
|
rs1312671864
|
|
NM_003002.4(SDHD):c.388dup (p.Ala130fs)
|
rs1131691063
|
|
NM_003002.4(SDHD):c.389C>G (p.Ala130Gly)
|
rs1049692537
|
|
NM_003002.4(SDHD):c.389C>T (p.Ala130Val)
|
|
|
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly)
|
rs750080041
|
|
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
|
|
|
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
|
|
|
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala)
|
rs2135277611
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.396A>C (p.Ser132=)
|
rs2135277619
|
|
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.398C>G (p.Ala133Gly)
|
|
|
NM_003002.4(SDHD):c.39C>T (p.Ala13=)
|
rs1566690237
|
|
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.404C>T (p.Thr135Ile)
|
rs2135277637
|
|
NM_003002.4(SDHD):c.405C>T (p.Thr135=)
|
rs1555187606
|
|
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)
|
|
|
NM_003002.4(SDHD):c.409G>A (p.Ala137Thr)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.40C>T (p.Leu14=)
|
rs1060503772
|
|
NM_003002.4(SDHD):c.410C>T (p.Ala137Val)
|
rs749250498
|
|
NM_003002.4(SDHD):c.411T>C (p.Ala137=)
|
rs1298909305
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.414G>A (p.Gly138=)
|
rs1174448545
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr)
|
rs2135277691
|
|
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu)
|
rs2135277712
|
|
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
|
|
|
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)
|
rs1865812863
|
|
NM_003002.4(SDHD):c.429C>T (p.Asn143=)
|
rs1036199125
|
|
NM_003002.4(SDHD):c.42A>G (p.Leu14=)
|
rs878854593
|
|
NM_003002.4(SDHD):c.42A>T (p.Leu14=)
|
|
|
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)
|
rs745732631
|
|
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)
|
|
|
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.439G>A (p.Val147Met)
|
rs1865813583
|
|
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
|
rs1476121898
|
|
NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)
|
|
|
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)
|
rs1865813813
|
|
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser)
|
rs1295620545
|
|
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)
|
|
|
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
|
|
|
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)
|
rs1865621392
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
NM_003002.4(SDHD):c.450C>T (p.Cys150=)
|
rs201337439
|
|
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn)
|
rs761953172
|
|
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr)
|
rs1865814160
|
|
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
|
rs1592786423
|
|
NM_003002.4(SDHD):c.458T>C (p.Val153Ala)
|
rs1555187644
|
|
NM_003002.4(SDHD):c.45A>T (p.Gly15=)
|
rs2135264801
|
|
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)
|
|
|
NM_003002.4(SDHD):c.463A>G (p.Met155Val)
|
rs2135277828
|
|
NM_003002.4(SDHD):c.464T>C (p.Met155Thr)
|
|
|
NM_003002.4(SDHD):c.466C>G (p.Leu156Val)
|
|
|
NM_003002.4(SDHD):c.466C>T (p.Leu156=)
|
rs2135277839
|
|
NM_003002.4(SDHD):c.468G>A (p.Leu156=)
|
rs2135277845
|
|
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)
|
rs878854596
|
|
NM_003002.4(SDHD):c.474G>T (p.Lys158Asn)
|
rs1377208267
|
|
NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe)
|
|
|
NM_003002.4(SDHD):c.476T>C (p.Leu159Pro)
|
rs2135277858
|
|
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
|
|
|
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg)
|
rs1555187655
|
|
NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)
|
|
|
NM_003002.4(SDHD):c.479G>A (p.Ter160=)
|
rs201372601
|
|
NM_003002.4(SDHD):c.479G>C (p.Ter160Ser)
|
|
|
NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)
|
|
|
NM_003002.4(SDHD):c.47G>T (p.Gly16Val)
|
|
|
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp)
|
rs587778663
|
|
NM_003002.4(SDHD):c.480A>T (p.Ter160Cys)
|
|
|
NM_003002.4(SDHD):c.48C>T (p.Gly16=)
|
rs1555186688
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
|
rs1401420432
|
|
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln)
|
rs1865621723
|
|
NM_003002.4(SDHD):c.51A>C (p.Arg17=)
|
rs199890548
|
|
NM_003002.4(SDHD):c.52+10C>G
|
rs2135264901
|
|
NM_003002.4(SDHD):c.52+11T>A
|
|
|
NM_003002.4(SDHD):c.52+12T>C
|
rs1865622422
|
|
NM_003002.4(SDHD):c.52+13C>T
|
|
|
NM_003002.4(SDHD):c.52+15C>T
|
rs1486681280
|
|
NM_003002.4(SDHD):c.52+17C>G
|
|
|
NM_003002.4(SDHD):c.52+17C>T
|
rs2135264969
|
|
NM_003002.4(SDHD):c.52+18C>T
|
|
|
NM_003002.4(SDHD):c.52+1G>A
|
rs1592777386
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.52+20T>C
|
|
|
NM_003002.4(SDHD):c.52+2T>C
|
rs587776644
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.52+5G>A
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+5G>C
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+6G>A
|
rs1416678757
|
|
NM_003002.4(SDHD):c.52+7G>C
|
rs2135264872
|
|
NM_003002.4(SDHD):c.52+8del
|
rs2135264855
|
|
NM_003002.4(SDHD):c.52+8dup
|
rs2135264855
|
|
NM_003002.4(SDHD):c.53-10_53-9del
|
|
|
NM_003002.4(SDHD):c.53-11T>C
|
|
|
NM_003002.4(SDHD):c.53-12C>G
|
rs2135266862
|
|
NM_003002.4(SDHD):c.53-12C>T
|
rs2135266862
|
|
NM_003002.4(SDHD):c.53-13A>G
|
|
|
NM_003002.4(SDHD):c.53-14G>A
|
|
|
NM_003002.4(SDHD):c.53-15T>C
|
|
|
NM_003002.4(SDHD):c.53-16A>G
|
rs915385437
|
|
NM_003002.4(SDHD):c.53-17A>G
|
rs1166658454
|
|
NM_003002.4(SDHD):c.53-18T>C
|
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
NM_003002.4(SDHD):c.53-20C>T
|
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
NM_003002.4(SDHD):c.53-3C>T
|
|
|
NM_003002.4(SDHD):c.53-52_53-49del
|
rs562618773
|
|
NM_003002.4(SDHD):c.53-5C>T
|
rs913670110
|
|
NM_003002.4(SDHD):c.53-6C>A
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-6C>T
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-7T>C
|
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003002.4(SDHD):c.53-8_53-7del
|
rs765322445
|
|
NM_003002.4(SDHD):c.53-9_53-6del
|
rs1592778629
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.57G>A (p.Leu19=)
|
rs560625389
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
NM_003002.4(SDHD):c.58T>A (p.Leu20Met)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.58T>C (p.Leu20=)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)
|
rs1440670464
|
|
NM_003002.4(SDHD):c.60G>A (p.Leu20=)
|
rs2135266996
|
|
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe)
|
rs1592778703
|
|
NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)
|
|
|
NM_003002.4(SDHD):c.64C>A (p.Arg22=)
|
rs104894306
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.65G>A (p.Arg22Gln)
|
rs1555186772
|
|
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)
|
|
|
NM_003002.4(SDHD):c.69T>A (p.Thr23=)
|
rs1350100098
|
|
NM_003002.4(SDHD):c.69T>G (p.Thr23=)
|
rs1350100098
|
|
NM_003002.4(SDHD):c.6G>A (p.Ala2=)
|
rs1592777160
|
|
NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)
|
rs775986509
|
|
NM_003002.4(SDHD):c.71C>T (p.Pro24Leu)
|
rs1865651909
|
|
NM_003002.4(SDHD):c.72A>C (p.Pro24=)
|
rs1413100881
|
|
NM_003002.4(SDHD):c.73G>T (p.Val25Leu)
|
rs878854597
|
|
NM_003002.4(SDHD):c.75G>A (p.Val25=)
|
|
|
NM_003002.4(SDHD):c.78C>T (p.Val26=)
|
|
|
NM_003002.4(SDHD):c.7G>A (p.Val3Ile)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>C (p.Val3Leu)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>T (p.Val3Phe)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)
|
rs541477171
|
|
NM_003002.4(SDHD):c.83C>A (p.Pro28His)
|
rs2135267114
|
|
NM_003002.4(SDHD):c.84T>C (p.Pro28=)
|
rs2135267119
|
|
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)
|
|
|
NM_003002.4(SDHD):c.86C>T (p.Ala29Val)
|
rs1555186774
|
|
NM_003002.4(SDHD):c.90T>C (p.His30=)
|
|
|
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
|
rs1865653068
|
|
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)
|
|
|
NM_003002.4(SDHD):c.93C>T (p.Ile31=)
|
rs766096986
|
|
NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)
|
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003002.4(SDHD):c.95C>T (p.Ser32Leu)
|
rs104894305
|
|
NM_003002.4(SDHD):c.97G>A (p.Ala33Thr)
|
rs2135267174
|
|
NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)
|
|
|
NM_003002.4(SDHD):c.99A>G (p.Ala33=)
|
rs2135267182
|
|
NM_003002.4(SDHD):c.9T>A (p.Val3=)
|
rs1555186657
|
|
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu)
|
rs1471482709
|
|
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)
|
rs2137715091
|
|
NM_003483.6(HMGA2):c.283-2A>G
|
rs1592471112
|
|
NM_004168.3(SDHA):c.-84dup
|
rs35805262
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
|
|
|
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
|
|
|
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)
|
rs1554685903
|
|
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
|
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)
|
rs1585998247
|
|
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs)
|
rs2116449991
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)
|
rs2116413948
|
|
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)
|
rs755664291
|
|
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
|
rs771986131
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup)
|
rs2141509708
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)
|
rs121913527
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005120.3(MED12):c.100-1_139del
|
rs199469676
|
|
NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del)
|
rs199469677
|
|
NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)
|
rs199469678
|
|
NM_005120.3(MED12):c.107T>G (p.Leu36Arg)
|
rs199469667
|
|
NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg)
|
rs199469679
|
|
NM_005120.3(MED12):c.111_155del (p.Ala38_Ser52del)
|
rs199469681
|
|
NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del)
|
rs199469682
|
|
NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del)
|
rs199469683
|
|
NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del)
|
rs199469684
|
|
NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr)
|
rs199469680
|
|
NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe)
|
rs199469685
|
|
NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del)
|
rs199469686
|
|
NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del)
|
rs199469687
|
|
NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del)
|
rs199469688
|
|
NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del)
|
rs199469690
|
|
NM_005120.3(MED12):c.128A>C (p.Gln43Pro)
|
rs199469668
|
|
NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis)
|
rs199469691
|
|
NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del)
|
rs199469692
|
|
NM_005120.3(MED12):c.130G>A (p.Gly44Ser)
|
rs199469669
|
|
NM_005120.3(MED12):c.130G>C (p.Gly44Arg)
|
rs199469669
|
|
NM_005120.3(MED12):c.130G>T (p.Gly44Cys)
|
rs199469669
|
|
NM_005120.3(MED12):c.131G>A (p.Gly44Asp)
|
rs199469672
|
|
NM_005120.3(MED12):c.131G>C (p.Gly44Ala)
|
rs199469672
|
|
NM_005120.3(MED12):c.131G>T (p.Gly44Val)
|
rs199469672
|
|
NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del)
|
rs199469693
|
|
NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del)
|
rs199469694
|
|
NM_005228.5(EGFR):c.1881-858G>T
|
rs909905659
|
|
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)
|
rs1589792836
|
|
NM_005343.4(HRAS):c.179G>T (p.Gly60Val)
|
rs730880460
|
|
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)
|
rs121913233
|
|
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr)
|
rs2133989896
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
NM_005401.5(PTPN14):c.*6320C>T
|
|
|
NM_005401.5(PTPN14):c.-154-22749A>G
|
|
|
NM_005401.5(PTPN14):c.-154-42562G>A
|
|
|
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
|
|
|
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
|
|
|
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
|
|
|
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
|
|
|
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)
|
rs1558092113
|
|
NM_005401.5(PTPN14):c.581+60_669+877del
|
|
|
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
|
|
|
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
|
|
|
NM_005401.5(PTPN14):c.929+24del
|
rs11322819
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
|
rs1724507777
|
|
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
|
rs397517199
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)
|
rs1724332515
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)
|
rs397517202
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)
|
rs1057519930
|
|
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
|
rs1724343994
|
|
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)
|
rs1553178399
|
|
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)
|
rs1554688023
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
|
|
|
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)
|
rs1555196298
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)
|
rs797045835
|
|
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
|
rs137853863
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
|
|
|
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
|
rs104894905
|
|
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
|
rs104894904
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)
|
rs104894902
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)
|
rs141571609
|
|
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)
|
rs587784225
|
|
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)
|
rs587784226
|
|
NM_017841.4(SDHAF2):c.*113C>A
|
rs886048416
|
|
NM_017841.4(SDHAF2):c.*170C>A
|
rs886048417
|
|
NM_017841.4(SDHAF2):c.*172del
|
rs537244040
|
|
NM_017841.4(SDHAF2):c.*627G>T
|
rs886048422
|
|
NM_017841.4(SDHAF2):c.*653A>G
|
rs886048423
|
|
NM_017841.4(SDHAF2):c.370+12G>A
|
rs886048415
|
|
NM_017849.4(TMEM127):c.*1197T>C
|
rs886056442
|
|
NM_017849.4(TMEM127):c.*1252C>G
|
rs886056441
|
|
NM_017849.4(TMEM127):c.*1406G>A
|
rs534881507
|
|
NM_017849.4(TMEM127):c.*1772G>A
|
rs537225254
|
|
NM_017849.4(TMEM127):c.*1819C>A
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1819C>G
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1883_*1886dup
|
rs886056439
|
|
NM_017849.4(TMEM127):c.*2101_*2103del
|
rs3832113
|
|
NM_017849.4(TMEM127):c.*2270dup
|
rs886056437
|
|
NM_017849.4(TMEM127):c.*2411C>A
|
rs1158489118
|
|
NM_017849.4(TMEM127):c.*249G>A
|
rs886056446
|
|
NM_017849.4(TMEM127):c.*2548T>C
|
rs886056434
|
|
NM_017849.4(TMEM127):c.*2642C>T
|
rs886056433
|
|
NM_017849.4(TMEM127):c.*2684C>G
|
rs1684078512
|
|
NM_017849.4(TMEM127):c.*2717C>G
|
rs886056432
|
|
NM_017849.4(TMEM127):c.*2860A>G
|
rs1289173127
|
|
NM_017849.4(TMEM127):c.*2888del
|
rs139762991
|
|
NM_017849.4(TMEM127):c.*3200GTT[2]
|
rs141956691
|
|
NM_017849.4(TMEM127):c.*3348G>C
|
rs886056429
|
|
NM_017849.4(TMEM127):c.*662G>A
|
rs886056445
|
|
NM_017849.4(TMEM127):c.*674dup
|
rs201871634
|
|
NM_017849.4(TMEM127):c.*760del
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*760dup
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*866C>T
|
rs926874804
|
|
NM_017849.4(TMEM127):c.*883C>G
|
rs886056443
|
|
NM_017849.4(TMEM127):c.*980G>C
|
rs77989183
|
|
NM_017849.4(TMEM127):c.-114C>T
|
rs1684402630
|
|
NM_017849.4(TMEM127):c.-131-7C>T
|
rs886056450
|
|
NM_017849.4(TMEM127):c.-18C>T
|
rs121908813
|
|
NM_017849.4(TMEM127):c.-37A>G
|
rs886056449
|
|
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
|
|
|
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
|
|
|
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
|
rs786202314
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)
|
rs121908817
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.245-1G>T
|
rs121908821
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
|
rs1684396239
|
|
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu)
|
rs771261665
|
|
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)
|
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.288C>T (p.Ile96=)
|
rs758726687
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
|
|
|
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
|
|
|
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
|
|
|
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
|
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)
|
rs121908814
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_017849.4(TMEM127):c.410-1G>C
|
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
|
|
|
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)
|
rs121908827
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)
|
rs121908829
|
|
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)
|
rs2104308338
|
|
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
|
rs761885719
|
|
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
|
rs1684143889
|
|
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
|
|
|
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)
|
rs121908831
|
|
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
|
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_020975.6(RET):c.*1020G>T
|
rs886047004
|
|
NM_020975.6(RET):c.*1046G>C
|
rs143948954
|
|
NM_020975.6(RET):c.*1103C>T
|
rs886047005
|
|
NM_020975.6(RET):c.*1233T>C
|
rs886047007
|
|
NM_020975.6(RET):c.*1278del
|
rs886047008
|
|
NM_020975.6(RET):c.*1337A>T
|
rs886047009
|
|
NM_020975.6(RET):c.*1345G>T
|
rs886047010
|
|
NM_020975.6(RET):c.*159G>T
|
rs1838381962
|
|
NM_020975.6(RET):c.*1646T>G
|
rs886047011
|
|
NM_020975.6(RET):c.*1797T>C
|
rs886047013
|
|
NM_020975.6(RET):c.*1797T>G
|
rs886047013
|
|
NM_020975.6(RET):c.*180G>A
|
rs1838382247
|
|
NM_020975.6(RET):c.*1886T>G
|
rs1019095754
|
|
NM_020975.6(RET):c.*358G>T
|
rs886046991
|
|
NM_020975.6(RET):c.*368G>T
|
rs756051983
|
|
NM_020975.6(RET):c.*446A>G
|
rs886046992
|
|
NM_020975.6(RET):c.*453G>T
|
rs886046993
|
|
NM_020975.6(RET):c.*492G>C
|
rs568766449
|
|
NM_020975.6(RET):c.*499dup
|
rs201945709
|
|
NM_020975.6(RET):c.*500C>G
|
rs564665995
|
|
NM_020975.6(RET):c.*506G>T
|
rs886046995
|
|
NM_020975.6(RET):c.*509A>G
|
rs886046996
|
|
NM_020975.6(RET):c.*538G>T
|
rs886046997
|
|
NM_020975.6(RET):c.*553G>T
|
rs886046998
|
|
NM_020975.6(RET):c.*600delinsTT
|
rs1588882236
|
|
NM_020975.6(RET):c.*749dup
|
rs886047000
|
|
NM_020975.6(RET):c.*763C>T
|
rs886047001
|
|
NM_020975.6(RET):c.*883G>A
|
rs1838396430
|
|
NM_020975.6(RET):c.*935C>A
|
rs886047003
|
|
NM_020975.6(RET):c.-160G>T
|
rs567112195
|
|
NM_020975.6(RET):c.-173A>G
|
rs1359755826
|
|
NM_020975.6(RET):c.-187C>A
|
rs886046983
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1311C>T (p.Asn437=)
|
rs1190189942
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1617C>A (p.Gly539=)
|
rs1554818648
|
|
NM_020975.6(RET):c.1648+14A>G
|
rs1356301733
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.186G>A (p.Glu62=)
|
rs1588862529
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2089C>T (p.Leu697=)
|
rs1588874416
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
NM_020975.6(RET):c.2262G>A (p.Thr754=)
|
rs779080598
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_020975.6(RET):c.2393-5C>T
|
rs1554819512
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2433C>T (p.Ser811=)
|
rs1290818295
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)
|
rs138847998
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
NM_020975.6(RET):c.2487T>C (p.Ser829=)
|
rs2132946081
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2535C>T (p.Ala845=)
|
rs377767425
|
|
NM_020975.6(RET):c.2580G>A (p.Gln860=)
|
rs886046988
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2700T>C (p.Tyr900=)
|
rs1185622721
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.2985G>A (p.Arg995=)
|
rs1252674267
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
NM_020975.6(RET):c.31C>T (p.Leu11=)
|
rs587780812
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.487C>A (p.Arg163=)
|
rs371153966
|
|
NM_020975.6(RET):c.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
NM_020975.6(RET):c.566G>A (p.Arg189His)
|
rs753707182
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.810C>A (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
NM_020975.6(RET):c.868-18G>T
|
rs57098408
|
|
NM_020975.6(RET):c.921A>G (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)
|
rs1554207664
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)
|
rs121909641
|
|
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)
|
rs759552236
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)
|
rs1816433701
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)
|
rs1482868825
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_023110.3(FGFR1):c.2187-19C>T
|
rs376583717
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)
|
rs1260404537
|
|
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)
|
rs138489552
|
|
NM_023110.3(FGFR1):c.448+1G>A
|
rs376416531
|
|
NM_023110.3(FGFR1):c.448+1G>C
|
rs376416531
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)
|
rs727505369
|
|
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)
|
rs1555556099
|
|
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
|
rs765548101
|
|
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
|
rs1554079046
|
|
NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr)
|
rs1555352529
|
|
NM_033116.4(NEK9):c.[1715G>T;1731+1G>T]
|
|
|
NM_033116.6(NEK9):c.500T>C (p.Ile167Thr)
|
rs879253775
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)
|
rs770248150
|
|
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys)
|
rs121913236
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_133171.5(ELMO2):c.1065+1G>T
|
|
|
NM_133171.5(ELMO2):c.1279+19del
|
rs76979752
|
|
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)
|
rs1568748859
|
|
NM_133171.5(ELMO2):c.1802-1G>C
|
rs886037918
|
|
NM_133171.5(ELMO2):c.2080del (p.Leu694fs)
|
rs886037919
|
|
NM_133171.5(ELMO2):c.311dup (p.Met104fs)
|
rs2145827538
|
|
NM_153490.3(KRT13):c.*162T>C
|
rs1904829902
|
|
NM_153490.3(KRT13):c.*19C>T
|
rs760565338
|
|
NM_153490.3(KRT13):c.*85C>T
|
rs886052906
|
|
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu)
|
rs145983286
|
|
NM_153490.3(KRT13):c.1286G>A (p.Arg429His)
|
rs150321809
|
|
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)
|
rs59897026
|
|
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro)
|
rs60440396
|
|
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly)
|
rs764088068
|
|
NM_153490.3(KRT13):c.540T>C (p.Ile180=)
|
rs755205284
|
|
NM_153490.3(KRT13):c.610G>A (p.Val204Met)
|
rs138102206
|
|
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr)
|
rs1904920258
|
|
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)
|
rs1747645807
|
|
NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp)
|
rs2112277098
|
|
NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)
|
rs751582616
|
|
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
|
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.990-1G>A
|
rs1554518790
|
|
NR_073138.1(MAX):n.146C>G
|
rs899541680
|
|
Single allele
|
|
|