NM_003977.4(AIP):c.920= (p.Arg307=)
|
rs4930199
|
0.99984
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_001370259.2(MEN1):c.1299T>C (p.His433=)
|
rs540012
|
0.97595
|
NM_000388.4(CASR):c.2244G>C (p.Pro748=)
|
rs2036400
|
0.97432
|
NM_004795.4(KL):c.2619T>C (p.Asn873=)
|
rs649964
|
0.97241
|
NM_000388.4(CASR):c.*574C>G
|
rs6438718
|
0.96802
|
NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_004795.4(KL):c.273T>C (p.Asp91=)
|
rs2772364
|
0.94529
|
NM_003002.4(SDHD):c.*613T>C
|
rs693441
|
0.93280
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)
|
rs2959656
|
0.89377
|
NM_003977.4(AIP):c.682C>A (p.Gln228Lys)
|
rs641081
|
0.84113
|
NM_020975.6(RET):c.3187+47T>C
|
rs2075912
|
0.84041
|
NM_020975.6(RET):c.*1506G>A
|
rs2742241
|
0.83094
|
NM_004795.4(KL):c.2701+22T>A
|
rs650439
|
0.81086
|
NM_020975.6(RET):c.73+9277T>C
|
rs2435357
|
0.79636
|
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_020975.6(RET):c.73+9494A>C
|
rs2506004
|
0.78499
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
NC_000010.11:g.43077059A>G
|
rs10900296
|
0.77447
|
NM_004795.4(KL):c.2247T>C (p.Ala749=)
|
rs648202
|
0.76534
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
NC_000007.14:g.22727026C>G
|
rs1800795
|
0.70949
|
NM_017841.4(SDHAF2):c.261-42G>A
|
rs879647
|
0.70822
|
NC_000001.11:g.206773062T>G
|
rs1800872
|
0.69428
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115
|
0.59177
|
NM_017849.4(TMEM127):c.*1958A>C
|
rs7058
|
0.56373
|
NM_000376.3(VDR):c.1025-49G>T
|
rs7975232
|
0.55284
|
NM_000388.4(CASR):c.1609-89C>T
|
rs4678174
|
0.55250
|
NM_000388.4(CASR):c.*1198T>C
|
rs10190
|
0.54750
|
NM_015074.3(KIF1B):c.*5019T>C
|
rs3748581
|
0.53815
|
NM_002382.5(MAX):c.*587G>A
|
rs1957949
|
0.52668
|
NM_003000.3(SDHB):c.642+325C>T
|
rs2235930
|
0.51227
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
NM_001963.6(EGF):c.-382A>G
|
rs4444903
|
0.50533
|
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_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992
|
0.46792
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
NM_020975.5(RET):c.-196C>A
|
rs10900297
|
0.41632
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
NM_004482.4(GALNT3):c.*281T>A
|
rs13429321
|
0.39072
|
NM_020975.6(RET):c.867+48A>G
|
rs2435352
|
0.37996
|
NM_020975.6(RET):c.74-126G>T
|
rs2565206
|
0.37985
|
NM_020975.6(RET):c.73+53G>A
|
rs12267460
|
0.37428
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_000376.3(VDR):c.1056T>C (p.Ile352=)
|
rs731236
|
0.33962
|
NM_004795.4(KL):c.1767C>T (p.His589=)
|
rs564481
|
0.30857
|
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=)
|
rs2071313
|
0.30843
|
NM_000388.4(CASR):c.*1015A>G
|
rs9740
|
0.27327
|
NM_002382.5(MAX):c.*717T>C
|
rs4902358
|
0.27135
|
NM_002382.5(MAX):c.*92G>A
|
rs45604339
|
0.26844
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
NM_004168.3(SDHA):c.-115T>C
|
rs2303741
|
0.25160
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
NM_004168.4(SDHA):c.896-20A>G
|
rs7710005
|
0.25110
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
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_020638.3(FGF23):c.*1429A>T
|
rs11063112
|
0.22976
|
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys)
|
rs2227983
|
0.22212
|
NM_020975.6(RET):c.*1116T>C
|
rs2435355
|
0.22170
|
NM_020975.6(RET):c.135= (p.Ala45=)
|
rs1800858
|
0.20726
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_020975.6(RET):c.2307= (p.Leu769=)
|
rs1800861
|
0.20453
|
NM_020975.6(RET):c.2608-24G>A
|
rs2472737
|
0.20380
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_000576.3(IL1B):c.315C>T (p.Phe105=)
|
rs1143634
|
0.19486
|
NM_020975.6(RET):c.2284+47C>T
|
rs760466
|
0.18873
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_000388.4(CASR):c.*1093C>T
|
rs1802757
|
0.17297
|
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.2608-147C>T
|
rs11238441
|
0.17019
|
NM_020975.6(RET):c.*95C>T
|
rs17028
|
0.16697
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_004795.4(KL):c.1109G>C (p.Cys370Ser)
|
rs9527025
|
0.15805
|
NM_004795.4(KL):c.1155G>A (p.Lys385=)
|
rs9527026
|
0.15795
|
NM_004795.4(KL):c.1054T>G (p.Phe352Val)
|
rs9536314
|
0.15781
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
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_020638.3(FGF23):c.716C>T (p.Thr239Met)
|
rs7955866
|
0.11385
|
NM_003000.3(SDHB):c.200+33G>A
|
rs2647169
|
0.10785
|
NM_003002.4(SDHD):c.*803A>G
|
rs17113461
|
0.10714
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_001370259.2(MEN1):c.1621= (p.Thr541=)
|
rs2959656
|
0.10623
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)
|
rs1042636
|
0.08688
|
NM_004168.4(SDHA):c.1908+15C>T
|
rs34504623
|
0.08152
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_000388.4(CASR):c.*1235A>G
|
rs34042920
|
0.06757
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
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_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_017849.4(TMEM127):c.*338G>A
|
rs13022177
|
0.03241
|
NM_003977.4(AIP):c.516C>T (p.Asp172=)
|
rs2276020
|
0.03152
|
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr)
|
rs117649834
|
0.03101
|
NM_004795.4(KL):c.1593C>T (p.Tyr531=)
|
rs62637617
|
0.03076
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_004482.4(GALNT3):c.-295T>A
|
rs111425435
|
0.02796
|
NM_001370259.2(MEN1):c.435C>T (p.Ser145=)
|
rs61736636
|
0.02784
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_004795.4(KL):c.*1286A>G
|
rs41292181
|
0.02431
|
NM_001370259.2(MEN1):c.1299= (p.His433=)
|
rs540012
|
0.02405
|
NM_003977.4(AIP):c.132C>T (p.Asp44=)
|
rs11822907
|
0.02357
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_024529.5(CDC73):c.*1267A>G
|
rs78218016
|
0.01764
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_001370259.2(MEN1):c.*302C>T
|
rs1804849
|
0.01607
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_017849.4(TMEM127):c.*1301T>C
|
rs3770239
|
0.01488
|
NM_004795.4(KL):c.1540C>T (p.Pro514Ser)
|
rs3752472
|
0.01461
|
NM_017841.4(SDHAF2):c.36+10G>A
|
rs114207859
|
0.01460
|
NM_002382.5(MAX):c.*603C>G
|
rs117802316
|
0.01457
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_004795.4(KL):c.*543G>A
|
rs116819287
|
0.01299
|
NM_004752.4(GCM2):c.1060A>G (p.Met354Val)
|
rs61734278
|
0.01292
|
NM_004795.4(KL):c.*510C>T
|
rs77813367
|
0.01271
|
NM_004795.4(KL):c.*1664T>C
|
rs116627995
|
0.01270
|
NM_004795.4(KL):c.*1455A>G
|
rs77174048
|
0.01269
|
NM_024529.5(CDC73):c.*580A>T
|
rs191600804
|
0.01264
|
NM_004795.4(KL):c.1407T>C (p.Gly469=)
|
rs138916294
|
0.01262
|
NM_003002.4(SDHD):c.*532A>T
|
rs146261846
|
0.01251
|
NM_020638.3(FGF23):c.*1079A>G
|
rs13312798
|
0.01230
|
NM_004795.4(KL):c.140G>A (p.Arg47Gln)
|
rs201936594
|
0.01179
|
NM_004795.4(KL):c.*407T>C
|
rs75520088
|
0.01175
|
NM_024529.5(CDC73):c.*2950A>G
|
rs144681513
|
0.01153
|
NM_024529.5(CDC73):c.*3507G>T
|
rs151216299
|
0.01140
|
NM_004482.4(GALNT3):c.799G>T (p.Val267Phe)
|
rs114933655
|
0.01135
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_004795.4(KL):c.*722T>C
|
rs183407162
|
0.01088
|
NM_004366.6(CLCN2):c.2271+8T>G
|
rs114350071
|
0.01055
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_004482.4(GALNT3):c.*783A>G
|
rs115493554
|
0.01034
|
NM_020975.6(RET):c.868-18G>A
|
rs57098408
|
0.01028
|
NM_001370259.2(MEN1):c.*307T>G
|
rs1804848
|
0.01026
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_017849.4(TMEM127):c.*2086C>T
|
rs13418193
|
0.00895
|
NM_020638.3(FGF23):c.*23T>G
|
rs13312794
|
0.00893
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_004795.4(KL):c.595C>T (p.Arg199Cys)
|
rs200063460
|
0.00849
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
NM_002382.5(MAX):c.*405G>A
|
rs45440292
|
0.00825
|
NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln)
|
rs34015754
|
0.00811
|
NM_004482.4(GALNT3):c.669G>A (p.Val223=)
|
rs13423840
|
0.00802
|
NM_002382.5(MAX):c.-100T>G
|
rs111941208
|
0.00769
|
NM_017849.4(TMEM127):c.*1163C>T
|
rs11691019
|
0.00769
|
NM_004482.4(GALNT3):c.1827T>C (p.Asn609=)
|
rs142136047
|
0.00763
|
NM_004795.4(KL):c.*1619T>C
|
rs114924800
|
0.00745
|
NM_004795.4(KL):c.326T>G (p.Leu109Arg)
|
rs35239775
|
0.00735
|
NM_020638.3(FGF23):c.*388G>A
|
rs13312795
|
0.00731
|
NM_004482.4(GALNT3):c.*515G>A
|
rs144354033
|
0.00728
|
NM_017849.4(TMEM127):c.*50C>T
|
rs72937654
|
0.00712
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_004795.4(KL):c.320C>T (p.Ala107Val)
|
rs115511178
|
0.00702
|
NM_004795.4(KL):c.87C>T (p.Arg29=)
|
rs528826951
|
0.00696
|
NM_003002.4(SDHD):c.*622A>G
|
rs142510105
|
0.00694
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile)
|
rs146521644
|
0.00668
|
NM_004795.4(KL):c.607G>T (p.Ala203Ser)
|
rs116289670
|
0.00657
|
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)
|
rs144380633
|
0.00655
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_017849.4(TMEM127):c.*2012C>T
|
rs149122699
|
0.00641
|
NM_020975.6(RET):c.*330A>G
|
rs141460872
|
0.00640
|
NM_004482.4(GALNT3):c.*186C>T
|
rs183674066
|
0.00613
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_003977.4(AIP):c.*64G>A
|
rs115346238
|
0.00596
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_004168.4(SDHA):c.312+20C>T
|
rs111533078
|
0.00586
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_003977.4(AIP):c.*60G>C
|
rs146014363
|
0.00566
|
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys)
|
rs35328951
|
0.00553
|
NM_003977.4(AIP):c.891C>A (p.Ala297=)
|
rs35665586
|
0.00545
|
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)
|
rs150107667
|
0.00542
|
NM_020975.6(RET):c.*1870C>T
|
rs146771196
|
0.00539
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_003502.4(AXIN1):c.2403G>A (p.Arg801=)
|
rs113073289
|
0.00535
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_004795.4(KL):c.393C>A (p.Asn131Lys)
|
rs79554512
|
0.00458
|
NM_004795.4(KL):c.327G>C (p.Leu109=)
|
rs116810451
|
0.00457
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_024529.5(CDC73):c.*2304T>G
|
rs144363422
|
0.00424
|
NM_004795.4(KL):c.91C>T (p.Leu31=)
|
rs540806300
|
0.00421
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_003000.3(SDHB):c.-37T>C
|
rs143031690
|
0.00411
|
NM_020638.3(FGF23):c.*1971T>C
|
rs140798293
|
0.00403
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_020638.3(FGF23):c.*1471C>A
|
rs114125104
|
0.00388
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_020638.3(FGF23):c.*1219C>T
|
rs115582772
|
0.00387
|
NM_020638.3(FGF23):c.*1316C>A
|
rs138576496
|
0.00387
|
NM_020638.3(FGF23):c.*1464T>C
|
rs144700678
|
0.00387
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_002382.5(MAX):c.-94G>C
|
rs536235832
|
0.00379
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_017849.4(TMEM127):c.*1306C>T
|
rs148119945
|
0.00371
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_004366.6(CLCN2):c.2415+9A>G
|
rs192449317
|
0.00351
|
NM_020975.6(RET):c.*1742G>A
|
rs143369221
|
0.00349
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
NM_004482.4(GALNT3):c.407A>G (p.Glu136Gly)
|
rs114745771
|
0.00319
|
NM_017849.4(TMEM127):c.-87C>T
|
rs527792197
|
0.00319
|
NM_003002.4(SDHD):c.*186A>G
|
rs183918321
|
0.00317
|
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)
|
rs13312793
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
|
rs17860422
|
0.00309
|
NM_020975.6(RET):c.*1583G>A
|
rs192065891
|
0.00300
|
NM_020638.3(FGF23):c.*1772G>A
|
rs13312800
|
0.00298
|
NM_004168.4(SDHA):c.1664-24del
|
rs534296796
|
0.00297
|
NM_004482.4(GALNT3):c.132A>G (p.Gln44=)
|
rs149809222
|
0.00293
|
NM_020638.3(FGF23):c.423G>T (p.Ala141=)
|
rs13312792
|
0.00290
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_020975.6(RET):c.*1599G>A
|
rs145954635
|
0.00265
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_002382.5(MAX):c.*461C>T
|
rs183428804
|
0.00262
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_020975.6(RET):c.*1558A>C
|
rs142572876
|
0.00260
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp)
|
rs114070356
|
0.00258
|
NM_024529.5(CDC73):c.308-16C>A
|
rs201766013
|
0.00252
|
NM_003001.3(SDHC):c.*1693G>A
|
rs191417790
|
0.00250
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile)
|
rs143647583
|
0.00222
|
NM_004795.4(KL):c.*1324A>G
|
rs185425841
|
0.00220
|
NM_020975.6(RET):c.*1812C>A
|
rs183817000
|
0.00220
|
NM_024529.5(CDC73):c.*2085G>C
|
rs150030810
|
0.00217
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_024529.5(CDC73):c.*3419T>A
|
rs566373225
|
0.00205
|
NM_001370259.2(MEN1):c.-24+84C>G
|
rs568093485
|
0.00202
|
NM_004795.4(KL):c.1371A>C (p.Ala457=)
|
rs150268586
|
0.00202
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_020975.6(RET):c.337+12G>A
|
rs200468424
|
0.00198
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
NM_024529.5(CDC73):c.*518A>G
|
rs190433473
|
0.00195
|
NM_004795.4(KL):c.2626G>A (p.Asp876Asn)
|
rs146235320
|
0.00193
|
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)
|
rs41265203
|
0.00192
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_003001.5(SDHC):c.*397G>A
|
rs74124906
|
0.00189
|
NM_003001.5(SDHC):c.*518G>A
|
rs375109418
|
0.00189
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_004482.4(GALNT3):c.*870A>T
|
rs189290881
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)
|
rs78201625
|
0.00179
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_017849.4(TMEM127):c.*2498C>T
|
rs191565203
|
0.00173
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
NM_020638.3(FGF23):c.*1886C>A
|
rs183802802
|
0.00169
|
NM_017849.4(TMEM127):c.*2845T>G
|
rs182729595
|
0.00168
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_020638.3(FGF23):c.*553C>A
|
rs80210924
|
0.00163
|
NM_017849.4(TMEM127):c.*1233C>T
|
rs536712285
|
0.00162
|
NM_020638.3(FGF23):c.211+19T>C
|
rs141828684
|
0.00162
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
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_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
NM_017849.4(TMEM127):c.*2300G>A
|
rs117655540
|
0.00153
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_004795.4(KL):c.*1372T>A
|
rs189084711
|
0.00144
|
NM_004795.4(KL):c.*1347C>G
|
rs556051453
|
0.00143
|
NM_024529.5(CDC73):c.*1365T>C
|
rs180929933
|
0.00143
|
NM_004752.4(GCM2):c.306G>A (p.Arg102=)
|
rs149143032
|
0.00142
|
NM_020638.3(FGF23):c.*29C>G
|
rs71534281
|
0.00140
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_003002.4(SDHD):c.*352C>G
|
rs192900956
|
0.00137
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_001370259.2(MEN1):c.*185C>T
|
rs111895237
|
0.00133
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_024529.5(CDC73):c.-95G>A
|
rs143969598
|
0.00133
|
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
|
rs117375173
|
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_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
|
rs148545588
|
0.00119
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_024529.5(CDC73):c.*1472T>G
|
rs576716003
|
0.00117
|
NM_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_004482.4(GALNT3):c.-252C>T
|
rs540533361
|
0.00115
|
NM_024529.5(CDC73):c.*2446C>T
|
rs572307472
|
0.00114
|
NM_004366.6(CLCN2):c.616-19C>T
|
rs189868847
|
0.00112
|
NM_004795.4(KL):c.*380A>G
|
rs191750865
|
0.00112
|
NM_020975.6(RET):c.*1130A>G
|
rs572936041
|
0.00112
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
NM_004366.6(CLCN2):c.1086-17G>A
|
rs200509841
|
0.00111
|
NM_004795.4(KL):c.2532G>A (p.Gln844=)
|
rs149775738
|
0.00111
|
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=)
|
rs149773402
|
0.00109
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833
|
0.00108
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)
|
rs148425779
|
0.00108
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
NM_002382.5(MAX):c.*616C>T
|
rs192895631
|
0.00103
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=)
|
rs145850037
|
0.00102
|
NM_000388.4(CASR):c.-154T>A
|
rs186365367
|
0.00101
|
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)
|
rs114817817
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_004795.4(KL):c.15C>T (p.Ala5=)
|
rs934153273
|
0.00098
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
NM_003001.4(SDHC):c.*1098T>C
|
rs569588829
|
0.00094
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_017849.4(TMEM127):c.-59C>T
|
rs542087360
|
0.00093
|
NM_004482.4(GALNT3):c.507A>G (p.Arg169=)
|
rs150682922
|
0.00092
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_004482.4(GALNT3):c.-246A>C
|
rs759149342
|
0.00091
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
NM_017849.4(TMEM127):c.*57C>T
|
rs147532087
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_020638.3(FGF23):c.*1575T>C
|
rs562433374
|
0.00088
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
NM_003977.4(AIP):c.-84C>G
|
rs540839310
|
0.00086
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00079
|
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)
|
rs77922936
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_024529.5(CDC73):c.*1132G>T
|
rs1017988008
|
0.00078
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_001127511.3(APC):c.-204A>G
|
rs554351451
|
0.00076
|
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
|
rs138864377
|
0.00076
|
NM_004168.4(SDHA):c.1260+13G>T
|
rs185239026
|
0.00076
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
NM_024529.5(CDC73):c.*3266A>G
|
rs532839308
|
0.00075
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_004795.4(KL):c.*32A>G
|
rs373955636
|
0.00071
|
NM_024529.5(CDC73):c.*3524A>G
|
rs548190260
|
0.00071
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)
|
rs9282834
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)
|
rs200769337
|
0.00068
|
NM_004795.4(KL):c.2688C>T (p.Asn896=)
|
rs145682430
|
0.00067
|
NM_002382.5(MAX):c.*1229C>T
|
rs562514408
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_003977.4(AIP):c.-23A>G
|
rs200665479
|
0.00064
|
NM_017849.4(TMEM127):c.*3209A>G
|
rs186348610
|
0.00064
|
NM_020638.3(FGF23):c.*235C>T
|
rs566868058
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_000388.4(CASR):c.*923T>C
|
rs201230484
|
0.00061
|
NM_004168.4(SDHA):c.894A>G (p.Thr298=)
|
rs774584410
|
0.00061
|
NM_017849.4(TMEM127):c.*2128C>A
|
rs533813582
|
0.00061
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_004795.4(KL):c.537G>C (p.Arg179=)
|
rs769292412
|
0.00060
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)
|
rs141230910
|
0.00057
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
NM_004168.4(SDHA):c.600A>G (p.Leu200=)
|
rs201967413
|
0.00056
|
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)
|
rs141242566
|
0.00056
|
NM_017849.4(TMEM127):c.*980G>A
|
rs77989183
|
0.00056
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_004795.4(KL):c.1188A>G (p.Gln396=)
|
rs139912465
|
0.00053
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_004795.4(KL):c.1419G>A (p.Arg473=)
|
rs144181834
|
0.00052
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
NM_000388.4(CASR):c.915C>A (p.Ile305=)
|
rs200528343
|
0.00051
|
NM_001370259.2(MEN1):c.*272T>C
|
rs563783609
|
0.00051
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
NM_002382.5(MAX):c.*144C>T
|
rs191382960
|
0.00050
|
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
|
rs142287570
|
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_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_017849.4(TMEM127):c.*2966C>G
|
rs17119378
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_001370259.2(MEN1):c.1049+9C>T
|
rs200517349
|
0.00048
|
NM_004795.4(KL):c.*1894T>G
|
rs763468774
|
0.00048
|
NM_004795.4(KL):c.2571C>A (p.Asn857Lys)
|
rs140707985
|
0.00048
|
NM_020638.3(FGF23):c.342G>A (p.Arg114=)
|
rs138972495
|
0.00048
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_002028.4(FNTB):c.209+1976G>T
|
rs201052112
|
0.00047
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_024529.5(CDC73):c.513-17A>C
|
rs202192473
|
0.00046
|
NM_000388.4(CASR):c.1733-9A>G
|
rs190731787
|
0.00044
|
NM_004366.6(CLCN2):c.1856-3C>T
|
rs371193424
|
0.00044
|
NM_020975.6(RET):c.*576G>A
|
rs185408658
|
0.00044
|
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn)
|
rs61741855
|
0.00043
|
NM_020975.6(RET):c.*1644G>C
|
rs117119161
|
0.00043
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_004795.4(KL):c.*793G>T
|
rs568826729
|
0.00042
|
NM_024529.5(CDC73):c.*453A>C
|
rs547363180
|
0.00042
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)
|
rs149827415
|
0.00041
|
NM_004482.4(GALNT3):c.189G>A (p.Leu63=)
|
rs188814778
|
0.00041
|
NM_003000.3(SDHB):c.287-26A>G
|
rs201397253
|
0.00040
|
NM_000388.4(CASR):c.*1201C>T
|
rs886057837
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001370259.2(MEN1):c.18C>T (p.Ala6=)
|
rs369348210
|
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_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_004795.4(KL):c.1945C>T (p.Arg649Cys)
|
rs199843173
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp)
|
rs143136193
|
0.00036
|
NM_004795.4(KL):c.*934T>A
|
rs151258919
|
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_024529.5(CDC73):c.*1761T>C
|
rs528066706
|
0.00036
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_020975.6(RET):c.2939+13T>C
|
rs149417158
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
|
rs76327999
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_003001.5(SDHC):c.20+22G>C
|
rs182261879
|
0.00032
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_020975.6(RET):c.1760-13C>T
|
rs376709486
|
0.00030
|
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)
|
rs142936491
|
0.00029
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_002382.5(MAX):c.*128T>A
|
rs539193441
|
0.00029
|
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter)
|
rs376963628
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_024529.5(CDC73):c.*1787A>G
|
rs747621423
|
0.00029
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_020638.3(FGF23):c.*2062A>C
|
rs558079364
|
0.00028
|
NM_002382.5(MAX):c.-18C>T
|
rs201456746
|
0.00027
|
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)
|
rs137994522
|
0.00027
|
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr)
|
rs137978189
|
0.00027
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
NM_004795.4(KL):c.614G>A (p.Gly205Asp)
|
rs200611452
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00024
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg)
|
rs147779149
|
0.00024
|
NM_004795.4(KL):c.2298C>G (p.Gly766=)
|
rs141751859
|
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.2943C>T (p.Tyr981=)
|
rs147318495
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
NM_024529.5(CDC73):c.*1644C>T
|
rs764317616
|
0.00024
|
NM_024529.5(CDC73):c.-10G>T
|
rs188082584
|
0.00024
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_003001.5(SDHC):c.78-19C>T
|
rs144770080
|
0.00023
|
NM_020975.6(RET):c.2654G>A (p.Gly885Glu)
|
rs1010091281
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_024529.5(CDC73):c.1066+13A>G
|
rs142414871
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
NM_002382.5(MAX):c.-80G>A
|
rs886050634
|
0.00022
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_020638.3(FGF23):c.*784C>T
|
rs553998728
|
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_020975.6(RET):c.337+34C>T
|
rs368088467
|
0.00022
|
NM_024529.5(CDC73):c.*3791T>C
|
rs886045739
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter)
|
rs137853086
|
0.00021
|
NM_004795.4(KL):c.387C>T (p.Tyr129=)
|
rs373385333
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_000388.4(CASR):c.*87C>T
|
rs202045621
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
NM_001370259.2(MEN1):c.*794G>A
|
rs117705251
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_017849.4(TMEM127):c.*3396G>A
|
rs762419401
|
0.00020
|
NM_017849.4(TMEM127):c.*3569C>T
|
rs140274612
|
0.00020
|
NM_020975.6(RET):c.3040-20C>T
|
rs372172456
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_024529.5(CDC73):c.424-16C>T
|
rs201012067
|
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_003001.5(SDHC):c.342C>T (p.His114=)
|
rs143730978
|
0.00019
|
NM_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
NM_004795.4(KL):c.1788C>A (p.Ser596=)
|
rs141133607
|
0.00019
|
NM_004795.4(KL):c.967G>A (p.Val323Ile)
|
rs143344388
|
0.00019
|
NM_020638.3(FGF23):c.*1398T>A
|
rs531815578
|
0.00019
|
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly)
|
rs144925325
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_020975.6(RET):c.73+9278G>A
|
rs537638504
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000537.4(REN):c.1216C>T (p.Arg406Cys)
|
rs547414447
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
NM_004366.6(CLCN2):c.879A>G (p.Ala293=)
|
rs138937943
|
0.00018
|
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)
|
rs376829052
|
0.00018
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_024529.5(CDC73):c.*1833A>G
|
rs150894778
|
0.00018
|
NM_000388.4(CASR):c.*1169C>T
|
rs200652347
|
0.00017
|
NM_000388.4(CASR):c.*1193C>T
|
rs886057835
|
0.00017
|
NM_000388.4(CASR):c.*1197C>G
|
rs886057836
|
0.00017
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_004168.4(SDHA):c.918C>G (p.Leu306=)
|
rs138828792
|
0.00017
|
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=)
|
rs138627624
|
0.00017
|
NM_004752.4(GCM2):c.1342A>G (p.Met448Val)
|
rs147168542
|
0.00017
|
NM_020638.3(FGF23):c.*998C>G
|
rs71583766
|
0.00017
|
NM_000388.4(CASR):c.27C>T (p.Val9=)
|
rs141880581
|
0.00016
|
NM_000388.4(CASR):c.573G>A (p.Glu191=)
|
rs141631116
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
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_003977.4(AIP):c.753G>A (p.Leu251=)
|
rs147351993
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_004366.6(CLCN2):c.936C>G (p.Leu312=)
|
rs41266267
|
0.00016
|
NM_004482.4(GALNT3):c.599C>T (p.Thr200Met)
|
rs138645426
|
0.00016
|
NM_004795.4(KL):c.*466A>T
|
rs770665581
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_024529.5(CDC73):c.-143G>C
|
rs778446879
|
0.00016
|
NC_000012.12:g.120978511A>G
|
rs756136537
|
0.00015
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
NM_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_004482.4(GALNT3):c.504T>C (p.Thr168=)
|
rs183709224
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_020975.6(RET):c.2607+4C>T
|
rs200634990
|
0.00015
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
NM_000388.4(CASR):c.1752G>A (p.Lys584=)
|
rs138638329
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)
|
rs774296730
|
0.00014
|
NM_002382.5(MAX):c.*1123A>C
|
rs552459072
|
0.00014
|
NM_002382.5(MAX):c.-98G>T
|
rs556543602
|
0.00014
|
NM_004168.4(SDHA):c.1064+10A>G
|
rs773168516
|
0.00014
|
NM_004168.4(SDHA):c.1552-15T>C
|
rs543628983
|
0.00014
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=)
|
rs370266713
|
0.00014
|
NM_004795.4(KL):c.1764G>T (p.Met588Ile)
|
rs543489938
|
0.00014
|
NM_004795.4(KL):c.738C>T (p.His246=)
|
rs756551415
|
0.00014
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_020638.3(FGF23):c.*1492T>C
|
rs986708682
|
0.00014
|
NM_020975.6(RET):c.1017G>A (p.Ser339=)
|
rs369810881
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_020975.6(RET):c.1701C>T (p.Asp567=)
|
rs201209972
|
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_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000244.4(MEN1):c.-47A>G
|
rs1035192873
|
0.00013
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
NM_002382.5(MAX):c.*1276G>C
|
rs748335228
|
0.00013
|
NM_002382.5(MAX):c.*503T>G
|
rs886050633
|
0.00013
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_002691.4(POLD1):c.1017G>T (p.Ser339=)
|
rs373404887
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)
|
rs143751880
|
0.00013
|
NM_004482.4(GALNT3):c.-238C>T
|
rs886055016
|
0.00013
|
NM_004482.4(GALNT3):c.516-2A>T
|
rs761396172
|
0.00013
|
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu)
|
rs146978168
|
0.00013
|
NM_004795.4(KL):c.*1565T>C
|
rs886050127
|
0.00013
|
NM_020975.6(RET):c.1893C>T (p.Asp631=)
|
rs55846256
|
0.00013
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
NM_024529.5(CDC73):c.*2427T>C
|
rs372585994
|
0.00013
|
NM_024529.5(CDC73):c.*683G>A
|
rs905879297
|
0.00013
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_001370259.2(MEN1):c.-23-135G>A
|
rs587777949
|
0.00012
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
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_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_004168.4(SDHA):c.1770C>T (p.Gly590=)
|
rs142457602
|
0.00012
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)
|
rs200337116
|
0.00012
|
NM_004366.6(CLCN2):c.221-8G>A
|
rs769713180
|
0.00012
|
NM_004795.4(KL):c.1105C>G (p.Leu369Val)
|
rs142695155
|
0.00012
|
NM_004795.4(KL):c.1882C>T (p.Arg628Cys)
|
rs200940225
|
0.00012
|
NM_004795.4(KL):c.911A>G (p.Asn304Ser)
|
rs745640577
|
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_020638.3(FGF23):c.*1803C>T
|
rs13312801
|
0.00012
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.1880-16C>T
|
rs370491323
|
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_020975.6(RET):c.626-7T>C
|
rs768246167
|
0.00012
|
NM_024529.5(CDC73):c.*1985T>A
|
rs886045726
|
0.00012
|
NM_024529.5(CDC73):c.840G>A (p.Leu280=)
|
rs10921320
|
0.00012
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)
|
rs559635859
|
0.00011
|
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_004168.4(SDHA):c.621+16T>C
|
rs769390635
|
0.00011
|
NM_004366.6(CLCN2):c.726C>T (p.Ala242=)
|
rs768569603
|
0.00011
|
NM_004482.4(GALNT3):c.1194A>G (p.Val398=)
|
rs150937941
|
0.00011
|
NM_004482.4(GALNT3):c.538C>T (p.Arg180Cys)
|
rs377392356
|
0.00011
|
NM_004795.4(KL):c.1858C>T (p.Arg620Cys)
|
rs34292549
|
0.00011
|
NM_004795.4(KL):c.2502C>T (p.Thr834=)
|
rs147748913
|
0.00011
|
NM_004795.4(KL):c.2682C>T (p.Tyr894=)
|
rs144132270
|
0.00011
|
NM_004795.4(KL):c.450C>A (p.Ser150=)
|
rs764992732
|
0.00011
|
NM_004795.4(KL):c.476A>G (p.Asn159Ser)
|
rs200218010
|
0.00011
|
NM_004795.4(KL):c.511C>A (p.Arg171Ser)
|
rs200517420
|
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.1437C>T (p.Ala479=)
|
rs576806356
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
|
rs141459368
|
0.00011
|
NM_020975.6(RET):c.337+11C>T
|
rs754967305
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_024529.5(CDC73):c.1316+15A>C
|
rs372909512
|
0.00011
|
NM_024529.5(CDC73):c.371-4A>G
|
rs374021222
|
0.00011
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)
|
rs200382161
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)
|
rs146759807
|
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_003977.4(AIP):c.973C>T (p.Arg325Trp)
|
rs765927395
|
0.00010
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_020975.6(RET):c.1064-14G>T
|
rs375815926
|
0.00010
|
NM_020975.6(RET):c.1353G>T (p.Thr451=)
|
rs201568301
|
0.00010
|
NM_020975.6(RET):c.1866C>G (p.Pro622=)
|
rs201979255
|
0.00010
|
NM_020975.6(RET):c.1879+17C>T
|
rs369920430
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_024529.5(CDC73):c.*2420A>C
|
rs536960020
|
0.00010
|
NM_024529.5(CDC73):c.*2677G>A
|
rs192018514
|
0.00010
|
NM_024529.5(CDC73):c.-30C>T
|
rs770313192
|
0.00010
|
NM_024529.5(CDC73):c.1066+10T>C
|
rs376113810
|
0.00010
|
NM_024529.5(CDC73):c.684G>A (p.Glu228=)
|
rs368708158
|
0.00010
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000388.4(CASR):c.-137C>T
|
rs201074178
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000388.4(CASR):c.1788C>T (p.Thr596=)
|
rs142778221
|
0.00009
|
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr)
|
rs201449422
|
0.00009
|
NM_000388.4(CASR):c.2844G>A (p.Leu948=)
|
rs140586950
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_002382.5(MAX):c.*375G>A
|
rs539220905
|
0.00009
|
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)
|
rs199646180
|
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_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_004795.4(KL):c.*771C>T
|
rs886050123
|
0.00009
|
NM_004795.4(KL):c.2862G>A (p.Pro954=)
|
rs387907447
|
0.00009
|
NM_004795.4(KL):c.956C>T (p.Ser319Phe)
|
rs138955761
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
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_020762.4(SRGAP1):c.182C>T (p.Thr61Met)
|
rs778174499
|
0.00009
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
NM_020975.6(RET):c.1880-13C>A
|
rs948277023
|
0.00009
|
NM_020975.6(RET):c.2136+15G>A
|
rs751183869
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00009
|
NM_024529.4(CDC73):c.-190G>C
|
rs886045709
|
0.00009
|
NM_024529.5(CDC73):c.*1499T>A
|
rs138503809
|
0.00009
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_001370259.2(MEN1):c.*438C>T
|
rs886048474
|
0.00008
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00008
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
0.00008
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
NM_004168.4(SDHA):c.1089C>T (p.His363=)
|
rs368488126
|
0.00008
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_004168.4(SDHA):c.552G>A (p.Gly184=)
|
rs147444427
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)
|
rs141605519
|
0.00008
|
NM_004795.4(KL):c.2259G>A (p.Leu753=)
|
rs200040161
|
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_020975.6(RET):c.804G>A (p.Ser268=)
|
rs942287684
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_024529.5(CDC73):c.1154+18C>G
|
rs145348897
|
0.00008
|
NM_024529.5(CDC73):c.876A>G (p.Arg292=)
|
rs909578765
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000388.4(CASR):c.825T>C (p.Asp275=)
|
rs199836910
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala)
|
rs773315874
|
0.00007
|
NM_000551.4(VHL):c.312C>T (p.Gly104=)
|
rs946898891
|
0.00007
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)
|
rs778728934
|
0.00007
|
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=)
|
rs367581776
|
0.00007
|
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)
|
rs754378887
|
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_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003000.3(SDHB):c.225T>C (p.Ala75=)
|
rs201762207
|
0.00007
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
NM_004168.4(SDHA):c.1065-4C>A
|
rs575007678
|
0.00007
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
0.00007
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
|
rs375401465
|
0.00007
|
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile)
|
rs374713815
|
0.00007
|
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr)
|
rs764488668
|
0.00007
|
NM_004795.4(KL):c.*735G>A
|
rs527723516
|
0.00007
|
NM_004795.4(KL):c.2069C>T (p.Pro690Leu)
|
rs146275953
|
0.00007
|
NM_004795.4(KL):c.2251A>G (p.Arg751Gly)
|
rs373177691
|
0.00007
|
NM_004795.4(KL):c.747C>T (p.Ala249=)
|
rs563017227
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly)
|
rs190841442
|
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.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_020975.6(RET):c.204G>T (p.Leu68=)
|
rs148874112
|
0.00007
|
NM_020975.6(RET):c.3026T>C (p.Met1009Thr)
|
rs375213011
|
0.00007
|
NM_020975.6(RET):c.3336T>C (p.Phe1112=)
|
rs146049841
|
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_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala)
|
rs371567666
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_024529.5(CDC73):c.*2625A>G
|
rs531872328
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
NM_024529.5(CDC73):c.648T>A (p.Ala216=)
|
rs143149579
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000388.4(CASR):c.-111C>A
|
rs201098532
|
0.00006
|
NM_000388.4(CASR):c.1554A>G (p.Gly518=)
|
rs138099808
|
0.00006
|
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)
|
rs200318708
|
0.00006
|
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)
|
rs150979829
|
0.00006
|
NM_000388.4(CASR):c.762T>C (p.His254=)
|
rs76438850
|
0.00006
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
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_001370259.2(MEN1):c.1003C>A (p.Arg335=)
|
rs371364206
|
0.00006
|
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly)
|
rs763160290
|
0.00006
|
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)
|
rs373669288
|
0.00006
|
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)
|
rs773500082
|
0.00006
|
NM_001370259.2(MEN1):c.825-11T>C
|
rs375364751
|
0.00006
|
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)
|
rs200261147
|
0.00006
|
NM_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
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_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
0.00006
|
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)
|
rs200671534
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_003977.4(AIP):c.403C>T (p.His135Tyr)
|
rs150487522
|
0.00006
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
NM_004168.4(SDHA):c.1064+4C>T
|
rs768276870
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
NM_004366.6(CLCN2):c.1067A>G (p.Asn356Ser)
|
rs764793623
|
0.00006
|
NM_004366.6(CLCN2):c.1171-3T>C
|
rs777453345
|
0.00006
|
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met)
|
rs376497260
|
0.00006
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
NM_004366.6(CLCN2):c.2657G>A (p.Arg886Gln)
|
rs759074708
|
0.00006
|
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr)
|
rs546781274
|
0.00006
|
NM_004482.4(GALNT3):c.*143G>A
|
rs771919992
|
0.00006
|
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp)
|
rs756068998
|
0.00006
|
NM_004482.4(GALNT3):c.1524+5G>A
|
rs375879489
|
0.00006
|
NM_004482.4(GALNT3):c.338G>A (p.Arg113His)
|
rs200762567
|
0.00006
|
NM_004752.4(GCM2):c.1144G>A (p.Val382Met)
|
rs371918069
|
0.00006
|
NM_004795.4(KL):c.*853T>C
|
rs1426785432
|
0.00006
|
NM_004795.4(KL):c.*8C>T
|
rs773877611
|
0.00006
|
NM_004795.4(KL):c.2557C>T (p.Arg853Cys)
|
rs147992424
|
0.00006
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
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_020638.3(FGF23):c.88C>T (p.Pro30Ser)
|
rs758725402
|
0.00006
|
NM_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1064-10C>T
|
rs747466717
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
NM_020975.6(RET):c.1150C>G (p.Pro384Ala)
|
rs536298339
|
0.00006
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
NM_020975.6(RET):c.1343A>G (p.Asn448Ser)
|
rs760832715
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1648+15C>T
|
rs1014808066
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.175G>A (p.Ala59Thr)
|
rs376565365
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
NM_020975.6(RET):c.224C>T (p.Thr75Met)
|
rs142641173
|
0.00006
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
NM_020975.6(RET):c.2409C>T (p.Ile803=)
|
rs535051804
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_020975.6(RET):c.2607+3G>A
|
rs752538741
|
0.00006
|
NM_020975.6(RET):c.2610C>T (p.Leu870=)
|
rs575629307
|
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.3142C>T (p.Leu1048Phe)
|
rs774347808
|
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_020975.6(RET):c.816C>T (p.Phe272=)
|
rs754428451
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_024529.5(CDC73):c.*1083A>T
|
rs367704451
|
0.00006
|
NM_024529.5(CDC73):c.*1599A>G
|
rs543573271
|
0.00006
|
NM_024529.5(CDC73):c.*2801A>G
|
rs999015399
|
0.00006
|
NM_024529.5(CDC73):c.*2962T>C
|
rs147904515
|
0.00006
|
NM_024529.5(CDC73):c.*948C>T
|
rs761544591
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_024529.5(CDC73):c.333C>T (p.Ser111=)
|
rs374834265
|
0.00006
|
NM_024529.5(CDC73):c.879C>T (p.Tyr293=)
|
rs199551585
|
0.00006
|
NM_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000043.6(FAS):c.667A>C (p.Asn223His)
|
rs143318339
|
0.00005
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000388.4(CASR):c.*251G>C
|
rs904222689
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=)
|
rs760183888
|
0.00005
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
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_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_003001.5(SDHC):c.450G>A (p.Gln150=)
|
rs749159544
|
0.00005
|
NM_004168.4(SDHA):c.1176C>T (p.Gly392=)
|
rs1041950
|
0.00005
|
NM_004168.4(SDHA):c.1299C>T (p.Pro433=)
|
rs144473374
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.1653G>A (p.Thr551=)
|
rs761927291
|
0.00005
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
NM_004168.4(SDHA):c.408G>A (p.Gln136=)
|
rs190477316
|
0.00005
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)
|
rs769768770
|
0.00005
|
NM_004795.4(KL):c.2904C>T (p.Thr968=)
|
rs762438505
|
0.00005
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
NM_017654.4(SAMD9):c.83T>C (p.Ile28Thr)
|
rs776674692
|
0.00005
|
NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser)
|
rs376560419
|
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_020638.3(FGF23):c.*181T>C
|
rs886049409
|
0.00005
|
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys)
|
rs765478662
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.1250G>A (p.Arg417His)
|
rs201030628
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.1441C>G (p.Leu481Val)
|
rs767210575
|
0.00005
|
NM_020975.6(RET):c.1476C>G (p.Thr492=)
|
rs758249079
|
0.00005
|
NM_020975.6(RET):c.230G>A (p.Arg77His)
|
rs570176656
|
0.00005
|
NM_020975.6(RET):c.2393-8G>A
|
rs376151644
|
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.337+29G>A
|
rs578158807
|
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_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_024529.5(CDC73):c.*1251A>G
|
rs550417983
|
0.00005
|
NM_024529.5(CDC73):c.1031-5C>T
|
rs746118697
|
0.00005
|
NM_024529.5(CDC73):c.1150C>T (p.Leu384=)
|
rs377215814
|
0.00005
|
NM_024529.5(CDC73):c.1559+7C>A
|
rs542111225
|
0.00005
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000038.6(APC):c.5756A>G (p.Asn1919Ser)
|
rs147740612
|
0.00004
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys)
|
rs752604668
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys)
|
rs372504955
|
0.00004
|
NM_000388.4(CASR):c.1913G>A (p.Arg638His)
|
rs201852643
|
0.00004
|
NM_000388.4(CASR):c.2955C>T (p.Asn985=)
|
rs199884115
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)
|
rs775066593
|
0.00004
|
NM_000388.4(CASR):c.32T>C (p.Leu11Ser)
|
rs200673016
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000388.4(CASR):c.705C>A (p.Ile235=)
|
rs199887150
|
0.00004
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
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.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_001127511.3(APC):c.-167G>A
|
rs1278244063
|
0.00004
|
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr)
|
rs151170252
|
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_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=)
|
rs771827808
|
0.00004
|
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=)
|
rs878855190
|
0.00004
|
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=)
|
rs764509990
|
0.00004
|
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)
|
rs200280309
|
0.00004
|
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=)
|
rs749265222
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly)
|
rs914488914
|
0.00004
|
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=)
|
rs148825200
|
0.00004
|
NM_001370259.2(MEN1):c.375A>T (p.Ile125=)
|
rs184896922
|
0.00004
|
NM_001370259.2(MEN1):c.531G>A (p.Leu177=)
|
rs146568011
|
0.00004
|
NM_001370259.2(MEN1):c.642T>C (p.Gly214=)
|
rs931878410
|
0.00004
|
NM_001370259.2(MEN1):c.753C>T (p.Thr251=)
|
rs763326062
|
0.00004
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
0.00004
|
NM_001370259.2(MEN1):c.784-10C>T
|
rs71526470
|
0.00004
|
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
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_002529.4(NTRK1):c.2222C>T (p.Thr741Met)
|
rs145081333
|
0.00004
|
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)
|
rs757031354
|
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_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
NM_003001.5(SDHC):c.198G>A (p.Ala66=)
|
rs763628960
|
0.00004
|
NM_003001.5(SDHC):c.20+8C>T
|
rs773661299
|
0.00004
|
NM_003001.5(SDHC):c.242-15T>C
|
rs961762320
|
0.00004
|
NM_003001.5(SDHC):c.282G>A (p.Gly94=)
|
rs536197277
|
0.00004
|
NM_003001.5(SDHC):c.444A>C (p.Leu148=)
|
rs377230417
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_003977.4(AIP):c.135C>T (p.Asp45=)
|
rs181969066
|
0.00004
|
NM_003977.4(AIP):c.226A>G (p.Ile76Val)
|
rs372657895
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.1260+17C>G
|
rs750384205
|
0.00004
|
NM_004168.4(SDHA):c.1311C>T (p.Ala437=)
|
rs377506772
|
0.00004
|
NM_004168.4(SDHA):c.1428G>A (p.Arg476=)
|
rs377415114
|
0.00004
|
NM_004168.4(SDHA):c.1432+7G>C
|
rs760526397
|
0.00004
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
NM_004168.4(SDHA):c.1572C>T (p.Ala524=)
|
rs185679709
|
0.00004
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
NM_004168.4(SDHA):c.1929C>T (p.Pro643=)
|
rs761201589
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.300T>C (p.Thr100=)
|
rs771662494
|
0.00004
|
NM_004168.4(SDHA):c.313-7T>C
|
rs201972549
|
0.00004
|
NM_004168.4(SDHA):c.372C>T (p.Tyr124=)
|
rs754393360
|
0.00004
|
NM_004168.4(SDHA):c.444C>T (p.Ala148=)
|
rs367618662
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.456+9C>T
|
rs200565489
|
0.00004
|
NM_004168.4(SDHA):c.457-4A>G
|
rs770052391
|
0.00004
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
NM_004168.4(SDHA):c.705C>T (p.Ile235=)
|
rs549892491
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.957T>C (p.Ile319=)
|
rs757167466
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)
|
rs771507094
|
0.00004
|
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)
|
rs780348130
|
0.00004
|
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)
|
rs568335048
|
0.00004
|
NM_004366.6(CLCN2):c.2143+8C>T
|
rs752854427
|
0.00004
|
NM_004366.6(CLCN2):c.2174G>A (p.Arg725Gln)
|
rs762292619
|
0.00004
|
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)
|
rs199616806
|
0.00004
|
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His)
|
rs143396063
|
0.00004
|
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val)
|
rs146096050
|
0.00004
|
NM_004482.4(GALNT3):c.1435C>T (p.Arg479Cys)
|
rs753199090
|
0.00004
|
NM_004482.4(GALNT3):c.600G>A (p.Thr200=)
|
rs749981979
|
0.00004
|
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg)
|
rs1204063782
|
0.00004
|
NM_004752.4(GCM2):c.1109C>T (p.Thr370Met)
|
rs146395801
|
0.00004
|
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln)
|
rs145103332
|
0.00004
|
NM_004752.4(GCM2):c.318C>T (p.Cys106=)
|
rs749600723
|
0.00004
|
NM_004795.4(KL):c.1860C>A (p.Arg620=)
|
rs995644762
|
0.00004
|
NM_004795.4(KL):c.2057C>T (p.Thr686Met)
|
rs141695559
|
0.00004
|
NM_004795.4(KL):c.2513G>C (p.Trp838Ser)
|
rs199812311
|
0.00004
|
NM_004795.4(KL):c.398T>A (p.Phe133Tyr)
|
rs749356037
|
0.00004
|
NM_004795.4(KL):c.560C>T (p.Pro187Leu)
|
rs761695698
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)
|
rs201122403
|
0.00004
|
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)
|
rs200178876
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
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_020638.3(FGF23):c.*1049C>T
|
rs13312797
|
0.00004
|
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg)
|
rs749770315
|
0.00004
|
NM_020762.4(SRGAP1):c.2225-7G>A
|
rs375559876
|
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.-37G>C
|
rs751005619
|
0.00004
|
NM_020975.6(RET):c.1064-16G>T
|
rs373327241
|
0.00004
|
NM_020975.6(RET):c.1064-6C>T
|
rs768878280
|
0.00004
|
NM_020975.6(RET):c.1088C>T (p.Ser363Phe)
|
rs766881522
|
0.00004
|
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)
|
rs763670106
|
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.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
NM_020975.6(RET):c.156C>T (p.Tyr52=)
|
rs866099980
|
0.00004
|
NM_020975.6(RET):c.1724C>T (p.Thr575Ile)
|
rs587780808
|
0.00004
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
NM_020975.6(RET):c.2001A>T (p.Pro667=)
|
rs563316790
|
0.00004
|
NM_020975.6(RET):c.2124C>T (p.Ala708=)
|
rs749646777
|
0.00004
|
NM_020975.6(RET):c.2139G>A (p.Glu713=)
|
rs149460492
|
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.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_020975.6(RET):c.2498G>A (p.Arg833His)
|
rs587782636
|
0.00004
|
NM_020975.6(RET):c.2676T>C (p.Asp892=)
|
rs768753935
|
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.2997G>A (p.Ala999=)
|
rs376487144
|
0.00004
|
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)
|
rs757373375
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.509C>T (p.Thr170Ile)
|
rs200547906
|
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.6G>A (p.Ala2=)
|
rs1243883489
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_020975.6(RET):c.741C>T (p.Ala247=)
|
rs777733752
|
0.00004
|
NM_020975.6(RET):c.79T>C (p.Leu27=)
|
rs377160777
|
0.00004
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)
|
rs746971522
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_024529.5(CDC73):c.*1074A>T
|
rs886045718
|
0.00004
|
NM_024529.5(CDC73):c.*1092A>G
|
rs886045720
|
0.00004
|
NM_024529.5(CDC73):c.*2455C>T
|
rs886045729
|
0.00004
|
NM_024529.5(CDC73):c.1154+20A>C
|
rs567786660
|
0.00004
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
NM_024529.5(CDC73):c.762A>G (p.Gln254=)
|
rs141847473
|
0.00004
|
NM_024529.5(CDC73):c.908-5C>T
|
rs200475944
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
NM_000038.6(APC):c.2966A>G (p.Asp989Gly)
|
rs770976457
|
0.00003
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)
|
rs587779807
|
0.00003
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu)
|
rs200396882
|
0.00003
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)
|
rs376589619
|
0.00003
|
NM_000245.4(MET):c.1510G>T (p.Val504Phe)
|
rs587780735
|
0.00003
|
NM_000245.4(MET):c.1853C>T (p.Thr618Met)
|
rs753407699
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000388.4(CASR):c.*103A>C
|
rs199899073
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.2104G>A (p.Val702Ile)
|
rs201828974
|
0.00003
|
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp)
|
rs201366240
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)
|
rs121909269
|
0.00003
|
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu)
|
rs1007139212
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
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.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000546.6(TP53):c.214C>G (p.Pro72Ala)
|
rs587782769
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)
|
rs587780731
|
0.00003
|
NM_000551.4(VHL):c.463+4C>T
|
rs879253989
|
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_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu)
|
rs779943666
|
0.00003
|
NM_001127511.3(APC):c.-32C>T
|
rs1015952631
|
0.00003
|
NM_001127511.3(APC):c.-88T>G
|
rs531931776
|
0.00003
|
NM_001127511.3(APC):c.1A>G (p.Met1Val)
|
rs189807660
|
0.00003
|
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)
|
rs770241997
|
0.00003
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
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_001370259.2(MEN1):c.*412G>A
|
rs972128957
|
0.00003
|
NM_001370259.2(MEN1):c.*693T>C
|
rs1229690026
|
0.00003
|
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=)
|
rs371964966
|
0.00003
|
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=)
|
rs776834299
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=)
|
rs546721780
|
0.00003
|
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser)
|
rs1204943413
|
0.00003
|
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=)
|
rs1114167530
|
0.00003
|
NM_001370259.2(MEN1):c.215C>A (p.Pro72His)
|
rs878856863
|
0.00003
|
NM_001370259.2(MEN1):c.315C>G (p.Leu105=)
|
rs1238374960
|
0.00003
|
NM_001370259.2(MEN1):c.471G>A (p.Val157=)
|
rs878855194
|
0.00003
|
NM_001370259.2(MEN1):c.474C>T (p.Ala158=)
|
rs772526802
|
0.00003
|
NM_001370259.2(MEN1):c.525C>T (p.Leu175=)
|
rs200155578
|
0.00003
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr)
|
rs770368608
|
0.00003
|
NM_001370259.2(MEN1):c.759G>A (p.Ser253=)
|
rs201829546
|
0.00003
|
NM_001370259.2(MEN1):c.760C>T (p.Leu254=)
|
rs1194394888
|
0.00003
|
NM_001370259.2(MEN1):c.808C>T (p.Leu270=)
|
rs371556177
|
0.00003
|
NM_001370259.2(MEN1):c.912+10T>C
|
rs1565645317
|
0.00003
|
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
0.00003
|
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu)
|
rs1270341616
|
0.00003
|
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
|
rs143863348
|
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_002529.4(NTRK1):c.1480C>A (p.Pro494Thr)
|
rs764737760
|
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_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
NM_003001.5(SDHC):c.241+7A>G
|
rs878854586
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
0.00003
|
NM_003001.5(SDHC):c.99G>A (p.Thr33=)
|
rs145535502
|
0.00003
|
NM_003001.5(SDHC):c.99G>T (p.Thr33=)
|
rs145535502
|
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_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
NM_003977.4(AIP):c.161G>A (p.Arg54Gln)
|
rs762938281
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_003977.4(AIP):c.562C>T (p.Arg188Trp)
|
rs577617733
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003977.4(AIP):c.935G>A (p.Arg312Gln)
|
rs775563618
|
0.00003
|
NM_003977.4(AIP):c.941G>A (p.Arg314Gln)
|
rs540000299
|
0.00003
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
0.00003
|
NM_004168.4(SDHA):c.1215C>T (p.Thr405=)
|
rs762888704
|
0.00003
|
NM_004168.4(SDHA):c.1233C>T (p.Gly411=)
|
rs376530094
|
0.00003
|
NM_004168.4(SDHA):c.1260+20C>T
|
rs779828602
|
0.00003
|
NM_004168.4(SDHA):c.1272C>T (p.His424=)
|
rs754805626
|
0.00003
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)
|
rs200223188
|
0.00003
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=)
|
rs747249998
|
0.00003
|
NM_004168.4(SDHA):c.1664-20G>A
|
rs1310666225
|
0.00003
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
NM_004168.4(SDHA):c.1773G>A (p.Ala591=)
|
rs555028212
|
0.00003
|
NM_004168.4(SDHA):c.1782G>A (p.Arg594=)
|
rs751329013
|
0.00003
|
NM_004168.4(SDHA):c.1794+3G>C
|
rs375883981
|
0.00003
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
NM_004168.4(SDHA):c.18C>T (p.Gly6=)
|
rs775847689
|
0.00003
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
NM_004168.4(SDHA):c.1974G>T (p.Pro658=)
|
rs1042446
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
NM_004168.4(SDHA):c.770+9C>G
|
rs538621686
|
0.00003
|
NM_004168.4(SDHA):c.771-4C>T
|
rs1360537551
|
0.00003
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
NM_004168.4(SDHA):c.801G>A (p.Thr267=)
|
rs543630901
|
0.00003
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
NM_004482.4(GALNT3):c.*27G>T
|
rs775247455
|
0.00003
|
NM_004482.4(GALNT3):c.*318T>G
|
rs886055013
|
0.00003
|
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys)
|
rs764730691
|
0.00003
|
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn)
|
rs377389049
|
0.00003
|
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys)
|
rs539221514
|
0.00003
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
0.00003
|
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)
|
rs104893960
|
0.00003
|
NM_004795.4(KL):c.1005T>C (p.Gly335=)
|
rs749183356
|
0.00003
|
NM_004795.4(KL):c.292C>T (p.Leu98=)
|
rs762177521
|
0.00003
|
NM_004795.4(KL):c.2995C>A (p.Leu999Ile)
|
rs200295310
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr)
|
rs1160295534
|
0.00003
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)
|
rs747571875
|
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.221A>G (p.Tyr74Cys)
|
rs747804736
|
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.398A>G (p.His133Arg)
|
rs587782203
|
0.00003
|
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met)
|
rs759138897
|
0.00003
|
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro)
|
rs772714957
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_020638.3(FGF23):c.*1292C>T
|
rs897877189
|
0.00003
|
NM_020638.3(FGF23):c.*1352T>C
|
rs886049398
|
0.00003
|
NM_020638.3(FGF23):c.*182G>A
|
rs563817819
|
0.00003
|
NM_020638.3(FGF23):c.*856C>G
|
rs886049399
|
0.00003
|
NM_020638.3(FGF23):c.-23C>T
|
rs769953313
|
0.00003
|
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe)
|
rs376694108
|
0.00003
|
NM_020638.3(FGF23):c.73T>C (p.Tyr25His)
|
rs769336439
|
0.00003
|
NM_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)
|
rs377767433
|
0.00003
|
NM_020975.6(RET):c.1018G>T (p.Val340Phe)
|
rs367737920
|
0.00003
|
NM_020975.6(RET):c.1063A>G (p.Arg355Gly)
|
rs145402131
|
0.00003
|
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)
|
rs770587835
|
0.00003
|
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)
|
rs140638866
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
NM_020975.6(RET):c.1648+16G>A
|
rs1282483080
|
0.00003
|
NM_020975.6(RET):c.1717G>A (p.Val573Met)
|
rs758766818
|
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.1771G>A (p.Val591Ile)
|
rs776013456
|
0.00003
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)
|
rs377767402
|
0.00003
|
NM_020975.6(RET):c.1878G>A (p.Gln626=)
|
rs147692872
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.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.2060A>G (p.Tyr687Cys)
|
rs778793244
|
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.2285-4T>G
|
rs376601566
|
0.00003
|
NM_020975.6(RET):c.2298G>A (p.Pro766=)
|
rs140658743
|
0.00003
|
NM_020975.6(RET):c.2331C>T (p.Asn777=)
|
rs753977221
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.2392+19T>C
|
rs778745375
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
NM_020975.6(RET):c.2589G>A (p.Gln863=)
|
rs985686811
|
0.00003
|
NM_020975.6(RET):c.2656C>T (p.Arg886Trp)
|
rs146838520
|
0.00003
|
NM_020975.6(RET):c.270G>A (p.Glu90=)
|
rs755967110
|
0.00003
|
NM_020975.6(RET):c.3060G>A (p.Ala1020=)
|
rs767152839
|
0.00003
|
NM_020975.6(RET):c.308A>G (p.His103Arg)
|
rs375390467
|
0.00003
|
NM_020975.6(RET):c.3090C>T (p.Asp1030=)
|
rs142859395
|
0.00003
|
NM_020975.6(RET):c.3138C>A (p.Ala1046=)
|
rs201576838
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_020975.6(RET):c.3188-4T>G
|
rs748501516
|
0.00003
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
NM_020975.6(RET):c.46C>T (p.Leu16=)
|
rs1309896929
|
0.00003
|
NM_020975.6(RET):c.51G>A (p.Leu17=)
|
rs1270163145
|
0.00003
|
NM_020975.6(RET):c.529C>T (p.Arg177Trp)
|
rs765654609
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_020975.6(RET):c.582G>A (p.Gln194=)
|
rs368116579
|
0.00003
|
NM_020975.6(RET):c.626-4G>A
|
rs775956924
|
0.00003
|
NM_020975.6(RET):c.74-7C>T
|
rs778358165
|
0.00003
|
NM_020975.6(RET):c.754G>A (p.Glu252Lys)
|
rs950977184
|
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_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024529.5(CDC73):c.*2963A>G
|
rs886045731
|
0.00003
|
NM_024529.5(CDC73):c.*2982T>C
|
rs886045732
|
0.00003
|
NM_024529.5(CDC73):c.*463A>G
|
rs879039427
|
0.00003
|
NM_024529.5(CDC73):c.1031-10T>C
|
rs370349805
|
0.00003
|
NM_024529.5(CDC73):c.1067-8C>T
|
rs780485546
|
0.00003
|
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)
|
rs202209013
|
0.00003
|
NM_024529.5(CDC73):c.1417+9C>T
|
rs769784756
|
0.00003
|
NM_024529.5(CDC73):c.1418-10C>G
|
rs768713729
|
0.00003
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024529.5(CDC73):c.1559+8C>G
|
rs751279026
|
0.00003
|
NM_024529.5(CDC73):c.1581G>A (p.Ser527=)
|
rs141013612
|
0.00003
|
NM_024529.5(CDC73):c.216T>C (p.Pro72=)
|
rs560439847
|
0.00003
|
NM_024529.5(CDC73):c.305C>T (p.Ala102Val)
|
rs778134705
|
0.00003
|
NM_024529.5(CDC73):c.438G>A (p.Val146=)
|
rs755468043
|
0.00003
|
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)
|
rs145694828
|
0.00003
|
NM_024529.5(CDC73):c.729+17del
|
rs776965442
|
0.00003
|
NM_024529.5(CDC73):c.730-7A>G
|
rs745511437
|
0.00003
|
NM_024529.5(CDC73):c.908-7T>C
|
rs367790151
|
0.00003
|
NM_024529.5(CDC73):c.908-8T>C
|
rs754598606
|
0.00003
|
NM_000038.6(APC):c.1264G>A (p.Glu422Lys)
|
rs755069015
|
0.00002
|
NM_000038.6(APC):c.1538T>C (p.Val513Ala)
|
rs876658167
|
0.00002
|
NM_000038.6(APC):c.3425A>C (p.Asn1142Thr)
|
rs138410865
|
0.00002
|
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)
|
rs760999992
|
0.00002
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)
|
rs141298709
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.6497G>A (p.Arg2166Gln)
|
rs752091655
|
0.00002
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)
|
rs974956317
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)
|
rs772362181
|
0.00002
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
NM_000388.4(CASR):c.1456G>T (p.Val486Leu)
|
rs201829972
|
0.00002
|
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys)
|
rs757302986
|
0.00002
|
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)
|
rs942603230
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)
|
rs763865303
|
0.00002
|
NM_000388.4(CASR):c.2669G>A (p.Arg890His)
|
rs567996888
|
0.00002
|
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
|
rs773552397
|
0.00002
|
NM_000388.4(CASR):c.3168G>T (p.Val1056=)
|
rs886057831
|
0.00002
|
NM_000388.4(CASR):c.445G>A (p.Val149Ile)
|
rs749288251
|
0.00002
|
NM_000388.4(CASR):c.675A>G (p.Lys225=)
|
rs202226622
|
0.00002
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
NM_000388.4(CASR):c.930C>T (p.Tyr310=)
|
rs201737357
|
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.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro)
|
rs1352126690
|
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_000546.6(TP53):c.784G>A (p.Gly262Ser)
|
rs200579969
|
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_000551.4(VHL):c.620C>T (p.Ala207Val)
|
rs1060503549
|
0.00002
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
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_001370259.2(MEN1):c.1012C>G (p.Leu338Val)
|
rs759337318
|
0.00002
|
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=)
|
rs201091135
|
0.00002
|
NM_001370259.2(MEN1):c.115T>C (p.Leu39=)
|
rs863224438
|
0.00002
|
NM_001370259.2(MEN1):c.1185+4A>G
|
rs863224809
|
0.00002
|
NM_001370259.2(MEN1):c.1185+5A>G
|
rs748700116
|
0.00002
|
NM_001370259.2(MEN1):c.1186-7C>T
|
rs587780842
|
0.00002
|
NM_001370259.2(MEN1):c.1350+6G>A
|
rs746077651
|
0.00002
|
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=)
|
rs1180957953
|
0.00002
|
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys)
|
rs765306552
|
0.00002
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser)
|
rs1941510179
|
0.00002
|
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)
|
rs767677287
|
0.00002
|
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)
|
rs752747097
|
0.00002
|
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)
|
rs998337367
|
0.00002
|
NM_001370259.2(MEN1):c.352G>A (p.Val118Met)
|
rs1060499975
|
0.00002
|
NM_001370259.2(MEN1):c.426C>T (p.Ser142=)
|
rs753252650
|
0.00002
|
NM_001370259.2(MEN1):c.639C>T (p.Ala213=)
|
rs746067825
|
0.00002
|
NM_001370259.2(MEN1):c.654+9C>T
|
rs202134234
|
0.00002
|
NM_001370259.2(MEN1):c.696C>T (p.Arg232=)
|
rs753411991
|
0.00002
|
NM_001370259.2(MEN1):c.784-16C>T
|
rs754257177
|
0.00002
|
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp)
|
rs1046929915
|
0.00002
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
NM_001370259.2(MEN1):c.993C>T (p.Asn331=)
|
rs370176253
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
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_002382.5(MAX):c.403G>A (p.Asp135Asn)
|
rs201312694
|
0.00002
|
NM_002382.5(MAX):c.415G>A (p.Asp139Asn)
|
rs772397458
|
0.00002
|
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp)
|
rs760222071
|
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_003001.5(SDHC):c.*20T>G
|
rs587778662
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.264G>A (p.Ser88=)
|
rs1277488324
|
0.00002
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_003001.5(SDHC):c.489T>C (p.Ser163=)
|
rs559747670
|
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_003977.4(AIP):c.366C>T (p.Cys122=)
|
rs748883061
|
0.00002
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1134G>A (p.Thr378=)
|
rs370002515
|
0.00002
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)
|
rs768947225
|
0.00002
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
NM_004168.4(SDHA):c.1257G>A (p.Gly419=)
|
rs753410011
|
0.00002
|
NM_004168.4(SDHA):c.1350C>T (p.Asn450=)
|
rs533902090
|
0.00002
|
NM_004168.4(SDHA):c.1353C>G (p.Arg451=)
|
rs555342133
|
0.00002
|
NM_004168.4(SDHA):c.1356C>T (p.Leu452=)
|
rs748496836
|
0.00002
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)
|
rs138277996
|
0.00002
|
NM_004168.4(SDHA):c.1419G>A (p.Glu473=)
|
rs898003329
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1432+12C>T
|
rs377104463
|
0.00002
|
NM_004168.4(SDHA):c.1433-10T>C
|
rs1214392431
|
0.00002
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
NM_004168.4(SDHA):c.150C>T (p.Ser50=)
|
rs140264486
|
0.00002
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
NM_004168.4(SDHA):c.1551+17G>A
|
rs376232883
|
0.00002
|
NM_004168.4(SDHA):c.1552-9G>A
|
rs765624219
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1656C>T (p.Phe552=)
|
rs1170030451
|
0.00002
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
NM_004168.4(SDHA):c.1664-16C>G
|
rs763374204
|
0.00002
|
NM_004168.4(SDHA):c.1671C>A (p.Val557=)
|
rs767963713
|
0.00002
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
NM_004168.4(SDHA):c.1737C>T (p.Ile579=)
|
rs201454617
|
0.00002
|
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=)
|
rs3181540
|
0.00002
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
NM_004168.4(SDHA):c.1755G>A (p.Arg585=)
|
rs760254364
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004168.4(SDHA):c.1909-5T>C
|
rs1197849830
|
0.00002
|
NM_004168.4(SDHA):c.1950C>T (p.Asn650=)
|
rs1042430
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004168.4(SDHA):c.447C>T (p.Ala149=)
|
rs752187837
|
0.00002
|
NM_004168.4(SDHA):c.456+17T>C
|
rs1350429949
|
0.00002
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
NM_004168.4(SDHA):c.597G>A (p.Ser199=)
|
rs141874250
|
0.00002
|
NM_004168.4(SDHA):c.598C>T (p.Leu200=)
|
rs764307917
|
0.00002
|
NM_004168.4(SDHA):c.621+14C>T
|
rs776301796
|
0.00002
|
NM_004168.4(SDHA):c.621+15G>A
|
rs747737117
|
0.00002
|
NM_004168.4(SDHA):c.63+8C>T
|
rs766358430
|
0.00002
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_004168.4(SDHA):c.825C>T (p.Asp275=)
|
rs1237373391
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_004168.4(SDHA):c.963T>C (p.Ser321=)
|
rs755235011
|
0.00002
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu)
|
rs532632165
|
0.00002
|
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)
|
rs184790106
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)
|
rs781034991
|
0.00002
|
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)
|
rs368782176
|
0.00002
|
NM_004482.3(GALNT3):c.-358C>T
|
rs886055018
|
0.00002
|
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)
|
rs766717305
|
0.00002
|
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln)
|
rs111875321
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_004795.4(KL):c.1780C>T (p.Arg594Cys)
|
rs138511256
|
0.00002
|
NM_004795.4(KL):c.2572T>A (p.Trp858Arg)
|
rs757603569
|
0.00002
|
NM_004795.4(KL):c.2811C>T (p.Pro937=)
|
rs751273061
|
0.00002
|
NM_004795.4(KL):c.442C>T (p.Arg148Cys)
|
rs868310562
|
0.00002
|
NM_004795.4(KL):c.497A>G (p.Asn166Ser)
|
rs387907444
|
0.00002
|
NM_004795.4(KL):c.944A>G (p.Glu315Gly)
|
rs759972130
|
0.00002
|
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)
|
rs369106578
|
0.00002
|
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser)
|
rs746860750
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
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.253A>G (p.Met85Val)
|
rs771261665
|
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_017849.4(TMEM127):c.620C>T (p.Ala207Val)
|
rs751044006
|
0.00002
|
NM_017849.4(TMEM127):c.80C>T (p.Pro27Leu)
|
rs983504110
|
0.00002
|
NM_020638.3(FGF23):c.*944G>A
|
rs561820380
|
0.00002
|
NM_020638.3(FGF23):c.249G>A (p.Val83=)
|
rs753676774
|
0.00002
|
NM_020638.3(FGF23):c.46G>A (p.Val16Ile)
|
rs760118094
|
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.1043G>A (p.Arg348Gln)
|
rs751518221
|
0.00002
|
NM_020975.6(RET):c.1084C>A (p.Leu362Ile)
|
rs773935854
|
0.00002
|
NM_020975.6(RET):c.1095G>A (p.Ser365=)
|
rs201992974
|
0.00002
|
NM_020975.6(RET):c.1188G>A (p.Ser396=)
|
rs758510657
|
0.00002
|
NM_020975.6(RET):c.1224C>T (p.Tyr408=)
|
rs745479264
|
0.00002
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
NM_020975.6(RET):c.1264-17C>T
|
rs768193163
|
0.00002
|
NM_020975.6(RET):c.1264-4C>T
|
rs587780806
|
0.00002
|
NM_020975.6(RET):c.1264-7C>T
|
rs772930754
|
0.00002
|
NM_020975.6(RET):c.1264-9C>T
|
rs886636715
|
0.00002
|
NM_020975.6(RET):c.1326G>A (p.Leu442=)
|
rs746055866
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)
|
rs138624658
|
0.00002
|
NM_020975.6(RET):c.144G>A (p.Thr48=)
|
rs759872307
|
0.00002
|
NM_020975.6(RET):c.1522+17G>A
|
rs760269666
|
0.00002
|
NM_020975.6(RET):c.1523-5T>C
|
rs1373899196
|
0.00002
|
NM_020975.6(RET):c.1528G>A (p.Ala510Thr)
|
rs989627119
|
0.00002
|
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)
|
rs748852160
|
0.00002
|
NM_020975.6(RET):c.1695C>T (p.Cys565=)
|
rs775079681
|
0.00002
|
NM_020975.6(RET):c.1725C>G (p.Thr575=)
|
rs780609440
|
0.00002
|
NM_020975.6(RET):c.1759+10G>T
|
rs770586179
|
0.00002
|
NM_020975.6(RET):c.1764C>A (p.Gly588=)
|
rs753557244
|
0.00002
|
NM_020975.6(RET):c.1860C>T (p.Cys620=)
|
rs79890926
|
0.00002
|
NM_020975.6(RET):c.1914C>T (p.Ile638=)
|
rs375041479
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
NM_020975.6(RET):c.1963T>C (p.Phe655Leu)
|
rs756978792
|
0.00002
|
NM_020975.6(RET):c.2038G>A (p.Ala680Thr)
|
rs184498773
|
0.00002
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
NM_020975.6(RET):c.2085C>T (p.Pro695=)
|
rs571603831
|
0.00002
|
NM_020975.6(RET):c.2136+11C>T
|
rs1232090564
|
0.00002
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
NM_020975.6(RET):c.2214G>A (p.Val738=)
|
rs776073471
|
0.00002
|
NM_020975.6(RET):c.2226G>A (p.Thr742=)
|
rs762876946
|
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.2397G>A (p.Pro799=)
|
rs776737136
|
0.00002
|
NM_020975.6(RET):c.2423A>C (p.Lys808Thr)
|
rs767945255
|
0.00002
|
NM_020975.6(RET):c.2445C>T (p.Phe815=)
|
rs751447014
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)
|
rs377767422
|
0.00002
|
NM_020975.6(RET):c.2505C>T (p.Ser835=)
|
rs1060504033
|
0.00002
|
NM_020975.6(RET):c.2730+13G>A
|
rs371761256
|
0.00002
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
NM_020975.6(RET):c.2802-11A>T
|
rs1220802134
|
0.00002
|
NM_020975.6(RET):c.2802-19G>A
|
rs765569833
|
0.00002
|
NM_020975.6(RET):c.2833G>A (p.Val945Met)
|
rs587780811
|
0.00002
|
NM_020975.6(RET):c.2870C>T (p.Pro957Leu)
|
rs1259087541
|
0.00002
|
NM_020975.6(RET):c.2875C>T (p.Arg959Trp)
|
rs587778658
|
0.00002
|
NM_020975.6(RET):c.2939+6C>T
|
rs181245759
|
0.00002
|
NM_020975.6(RET):c.296G>A (p.Arg99Gln)
|
rs749500174
|
0.00002
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
NM_020975.6(RET):c.30G>A (p.Gly10=)
|
rs1050242868
|
0.00002
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
NM_020975.6(RET):c.335G>A (p.Arg112His)
|
rs587780814
|
0.00002
|
NM_020975.6(RET):c.342C>T (p.Arg114=)
|
rs143083395
|
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.625+10G>A
|
rs371974705
|
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.724G>A (p.Val242Met)
|
rs1264337497
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.74-11_74-10dup
|
rs1453857349
|
0.00002
|
NM_020975.6(RET):c.777G>A (p.Pro259=)
|
rs1279646689
|
0.00002
|
NM_020975.6(RET):c.825C>T (p.Gly275=)
|
rs150797149
|
0.00002
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
NM_020975.6(RET):c.868-9A>G
|
rs201766252
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2581A>G (p.Thr861Ala)
|
rs764615920
|
0.00002
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)
|
rs771210121
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_024529.5(CDC73):c.*1789G>A
|
rs1323646186
|
0.00002
|
NM_024529.5(CDC73):c.*3342G>A
|
rs1174982740
|
0.00002
|
NM_024529.5(CDC73):c.1031-20A>G
|
rs1558312757
|
0.00002
|
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)
|
rs971586985
|
0.00002
|
NM_024529.5(CDC73):c.1179G>A (p.Lys393=)
|
rs200738107
|
0.00002
|
NM_024529.5(CDC73):c.1511G>A (p.Arg504His)
|
rs759222387
|
0.00002
|
NM_024529.5(CDC73):c.1564A>G (p.Met522Val)
|
rs751152405
|
0.00002
|
NM_024529.5(CDC73):c.201G>A (p.Val67=)
|
rs752298916
|
0.00002
|
NM_024529.5(CDC73):c.237+7A>G
|
rs1675543660
|
0.00002
|
NM_024529.5(CDC73):c.27A>G (p.Arg9=)
|
rs763452834
|
0.00002
|
NM_024529.5(CDC73):c.306G>A (p.Ala102=)
|
rs141131532
|
0.00002
|
NM_024529.5(CDC73):c.371-7T>C
|
rs757680253
|
0.00002
|
NM_024529.5(CDC73):c.424-11G>C
|
rs1188223298
|
0.00002
|
NM_024529.5(CDC73):c.432G>A (p.Glu144=)
|
rs934976346
|
0.00002
|
NM_024529.5(CDC73):c.450A>G (p.Lys150=)
|
rs779144943
|
0.00002
|
NM_024529.5(CDC73):c.729+10A>G
|
rs757532746
|
0.00002
|
NM_024529.5(CDC73):c.789T>G (p.Arg263=)
|
rs761846181
|
0.00002
|
NM_024529.5(CDC73):c.829-13A>C
|
rs760909144
|
0.00002
|
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
NM_024529.5(CDC73):c.93C>T (p.Ser31=)
|
rs550111539
|
0.00002
|
NM_024529.5(CDC73):c.973-11T>C
|
rs755543878
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
NM_000038.6(APC):c.1192A>C (p.Lys398Gln)
|
rs765196085
|
0.00001
|
NM_000038.6(APC):c.1498T>C (p.Tyr500His)
|
rs762019672
|
0.00001
|
NM_000038.6(APC):c.1585C>T (p.Leu529Phe)
|
rs1428025300
|
0.00001
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
NM_000038.6(APC):c.2933A>C (p.Gln978Pro)
|
rs730881223
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.3218C>T (p.Thr1073Ile)
|
rs773354366
|
0.00001
|
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)
|
rs768454793
|
0.00001
|
NM_000038.6(APC):c.3445G>A (p.Glu1149Lys)
|
rs371117193
|
0.00001
|
NM_000038.6(APC):c.3515A>T (p.His1172Leu)
|
rs1024630299
|
0.00001
|
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)
|
rs752926571
|
0.00001
|
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg)
|
rs1399790840
|
0.00001
|
NM_000038.6(APC):c.4207A>G (p.Ser1403Gly)
|
rs759317924
|
0.00001
|
NM_000038.6(APC):c.4213G>A (p.Val1405Ile)
|
rs761966904
|
0.00001
|
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)
|
rs1479009365
|
0.00001
|
NM_000038.6(APC):c.447C>A (p.Asp149Glu)
|
rs750821213
|
0.00001
|
NM_000038.6(APC):c.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5399A>G (p.Asn1800Ser)
|
rs865782682
|
0.00001
|
NM_000038.6(APC):c.5615T>A (p.Val1872Asp)
|
rs748389037
|
0.00001
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
NM_000038.6(APC):c.5794A>T (p.Thr1932Ser)
|
rs777604445
|
0.00001
|
NM_000038.6(APC):c.6383C>T (p.Ala2128Val)
|
rs753228011
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)
|
rs767691072
|
0.00001
|
NM_000038.6(APC):c.7397C>T (p.Ser2466Phe)
|
rs765669629
|
0.00001
|
NM_000038.6(APC):c.7541C>G (p.Thr2514Ser)
|
rs747833393
|
0.00001
|
NM_000038.6(APC):c.7558G>A (p.Gly2520Arg)
|
rs746138566
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)
|
rs757874563
|
0.00001
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
NM_000245.4(MET):c.306C>G (p.Ser102Arg)
|
rs749383450
|
0.00001
|
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)
|
rs1394199299
|
0.00001
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys)
|
rs587778444
|
0.00001
|
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr)
|
rs766190061
|
0.00001
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
rs758486336
|
0.00001
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
NM_000245.4(MET):c.800A>G (p.Glu267Gly)
|
rs751564290
|
0.00001
|
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)
|
rs181988132
|
0.00001
|
NM_000321.3(RB1):c.1206C>T (p.Ser402=)
|
rs752679968
|
0.00001
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)
|
rs1566187849
|
0.00001
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
0.00001
|
NM_000388.4(CASR):c.*1298A>G
|
rs1470056406
|
0.00001
|
NM_000388.4(CASR):c.*625G>A
|
rs886057833
|
0.00001
|
NM_000388.4(CASR):c.-10C>T
|
rs753659949
|
0.00001
|
NM_000388.4(CASR):c.1011C>G (p.Val337=)
|
rs201820733
|
0.00001
|
NM_000388.4(CASR):c.1028T>C (p.Val343Ala)
|
rs750427763
|
0.00001
|
NM_000388.4(CASR):c.108G>A (p.Gly36=)
|
rs781573002
|
0.00001
|
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)
|
rs200771541
|
0.00001
|
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr)
|
rs1217895146
|
0.00001
|
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys)
|
rs760190284
|
0.00001
|
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
|
rs145869851
|
0.00001
|
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)
|
rs148573275
|
0.00001
|
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)
|
rs377282860
|
0.00001
|
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln)
|
rs1287075426
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000388.4(CASR):c.118A>G (p.Ile40Val)
|
rs1458833527
|
0.00001
|
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)
|
rs202101164
|
0.00001
|
NM_000388.4(CASR):c.1283C>T (p.Ala428Val)
|
rs895543540
|
0.00001
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp)
|
rs141315218
|
0.00001
|
NM_000388.4(CASR):c.1452C>T (p.Asp484=)
|
rs776775141
|
0.00001
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)
|
rs1358793834
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.1887T>C (p.Phe629=)
|
rs750220557
|
0.00001
|
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)
|
rs1185593894
|
0.00001
|
NM_000388.4(CASR):c.1923C>T (p.Pro641=)
|
rs368093724
|
0.00001
|
NM_000388.4(CASR):c.2012A>T (p.Glu671Val)
|
rs199957040
|
0.00001
|
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)
|
rs768204447
|
0.00001
|
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)
|
rs767363250
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.2046G>A (p.Pro682=)
|
rs760450976
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2139C>T (p.Ser713=)
|
rs200384325
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)
|
rs375468610
|
0.00001
|
NM_000388.4(CASR):c.2255G>A (p.Arg752His)
|
rs771529256
|
0.00001
|
NM_000388.4(CASR):c.232A>G (p.Ile78Val)
|
rs769294626
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000388.4(CASR):c.2437A>G (p.Ile813Val)
|
rs746541034
|
0.00001
|
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)
|
rs200777304
|
0.00001
|
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr)
|
rs763865303
|
0.00001
|
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)
|
rs1392921552
|
0.00001
|
NM_000388.4(CASR):c.2680G>A (p.Val894Ile)
|
rs200883282
|
0.00001
|
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu)
|
rs121909269
|
0.00001
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)
|
rs1293909274
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.2978C>T (p.Thr993Met)
|
rs758227966
|
0.00001
|
NM_000388.4(CASR):c.2994G>A (p.Leu998=)
|
rs200260696
|
0.00001
|
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)
|
rs748637478
|
0.00001
|
NM_000388.4(CASR):c.3054C>T (p.Cys1018=)
|
rs371038712
|
0.00001
|
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)
|
rs769439564
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000388.4(CASR):c.53C>T (p.Ser18Phe)
|
rs749748004
|
0.00001
|
NM_000388.4(CASR):c.614G>A (p.Arg205His)
|
rs763162046
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.738C>T (p.Tyr246=)
|
rs895337411
|
0.00001
|
NM_000388.4(CASR):c.813C>A (p.Ser271=)
|
rs759939185
|
0.00001
|
NM_000388.4(CASR):c.857G>A (p.Arg286His)
|
rs922511747
|
0.00001
|
NM_000388.4(CASR):c.921G>A (p.Met307Ile)
|
rs751095642
|
0.00001
|
NM_000388.4(CASR):c.946G>A (p.Gly316Ser)
|
rs755997016
|
0.00001
|
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)
|
rs758232331
|
0.00001
|
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser)
|
rs762171436
|
0.00001
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_000545.8(HNF1A):c.1030G>A (p.Val344Met)
|
rs767616383
|
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.1537A>T (p.Thr513Ser)
|
rs753702603
|
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.1769T>C (p.Val590Ala)
|
rs928744634
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)
|
rs1877445147
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
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_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)
|
rs989692988
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.399G>A (p.Met133Ile)
|
rs1064795139
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.587G>A (p.Arg196Gln)
|
rs483352697
|
0.00001
|
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)
|
rs587780072
|
0.00001
|
NM_000546.6(TP53):c.649G>A (p.Val217Met)
|
rs35163653
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.182C>T (p.Pro61Leu)
|
rs746582207
|
0.00001
|
NM_000551.4(VHL):c.1A>T (p.Met1Leu)
|
rs1060503557
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)
|
rs1060503561
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.284C>T (p.Pro95Leu)
|
rs964996401
|
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.416C>G (p.Ser139Cys)
|
rs587780732
|
0.00001
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
NM_000551.4(VHL):c.429C>T (p.Asp143=)
|
rs773556807
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)
|
rs778205243
|
0.00001
|
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)
|
rs5030823
|
0.00001
|
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)
|
rs768390987
|
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.93G>C (p.Glu31Asp)
|
rs1438911242
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=)
|
rs139019277
|
0.00001
|
NM_001007792.1(NTRK1):c.10-562dup
|
rs761392074
|
0.00001
|
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr)
|
rs773053314
|
0.00001
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
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.2642A>G (p.Tyr881Cys)
|
rs755850268
|
0.00001
|
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser)
|
rs748284088
|
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_001370259.2(MEN1):c.*104C>T
|
rs886048477
|
0.00001
|
NM_001370259.2(MEN1):c.*400G>A
|
rs1351825181
|
0.00001
|
NM_001370259.2(MEN1):c.*89G>A
|
rs886048478
|
0.00001
|
NM_001370259.2(MEN1):c.1004G>A (p.Arg335Gln)
|
rs764998893
|
0.00001
|
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=)
|
rs1060503796
|
0.00001
|
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)
|
rs377715802
|
0.00001
|
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=)
|
rs878855184
|
0.00001
|
NM_001370259.2(MEN1):c.1038T>C (p.Thr346=)
|
rs1414483292
|
0.00001
|
NM_001370259.2(MEN1):c.1049+11C>A
|
rs1229329826
|
0.00001
|
NM_001370259.2(MEN1):c.1049+13C>T
|
rs533537007
|
0.00001
|
NM_001370259.2(MEN1):c.1050-19G>C
|
rs1322811280
|
0.00001
|
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg)
|
rs371503251
|
0.00001
|
NM_001370259.2(MEN1):c.1086G>A (p.Lys362=)
|
rs1941672084
|
0.00001
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=)
|
rs754129242
|
0.00001
|
NM_001370259.2(MEN1):c.1136C>A (p.Ala379Glu)
|
rs1592640172
|
0.00001
|
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)
|
rs1225964479
|
0.00001
|
NM_001370259.2(MEN1):c.114C>G (p.Ser38=)
|
rs1252317486
|
0.00001
|
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)
|
rs761360623
|
0.00001
|
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)
|
rs773978650
|
0.00001
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr)
|
rs934222398
|
0.00001
|
NM_001370259.2(MEN1):c.1185+19A>G
|
rs1456615213
|
0.00001
|
NM_001370259.2(MEN1):c.1186-17C>T
|
rs773542607
|
0.00001
|
NM_001370259.2(MEN1):c.1186-6G>A
|
rs576193460
|
0.00001
|
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=)
|
rs770037856
|
0.00001
|
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr)
|
rs746135199
|
0.00001
|
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=)
|
rs1289898067
|
0.00001
|
NM_001370259.2(MEN1):c.121C>T (p.Leu41=)
|
rs1441672096
|
0.00001
|
NM_001370259.2(MEN1):c.1226G>A (p.Cys409Tyr)
|
rs1060499988
|
0.00001
|
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=)
|
rs878855188
|
0.00001
|
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr)
|
rs757179911
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=)
|
rs1236745071
|
0.00001
|
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=)
|
rs376598079
|
0.00001
|
NM_001370259.2(MEN1):c.1350+12C>A
|
rs1186166424
|
0.00001
|
NM_001370259.2(MEN1):c.1350+19G>A
|
rs1331281610
|
0.00001
|
NM_001370259.2(MEN1):c.1351-11C>T
|
rs1941574613
|
0.00001
|
NM_001370259.2(MEN1):c.1351-16C>G
|
rs766052368
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)
|
rs775922507
|
0.00001
|
NM_001370259.2(MEN1):c.135G>A (p.Glu45=)
|
rs778670301
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln)
|
rs200035619
|
0.00001
|
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)
|
rs748102589
|
0.00001
|
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)
|
rs754445482
|
0.00001
|
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=)
|
rs748820252
|
0.00001
|
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)
|
rs1352053477
|
0.00001
|
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)
|
rs779589005
|
0.00001
|
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)
|
rs755734265
|
0.00001
|
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser)
|
rs1565638021
|
0.00001
|
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=)
|
rs1413990417
|
0.00001
|
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser)
|
rs587778440
|
0.00001
|
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)
|
rs766604600
|
0.00001
|
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)
|
rs1060499993
|
0.00001
|
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=)
|
rs773363654
|
0.00001
|
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala)
|
rs771842369
|
0.00001
|
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=)
|
rs1057121245
|
0.00001
|
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)
|
rs1060499994
|
0.00001
|
NM_001370259.2(MEN1):c.1539A>T (p.Gly513=)
|
rs1941530792
|
0.00001
|
NM_001370259.2(MEN1):c.1542C>T (p.Pro514=)
|
rs1592631827
|
0.00001
|
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg)
|
rs1427043628
|
0.00001
|
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu)
|
rs1060499983
|
0.00001
|
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)
|
rs760683615
|
0.00001
|
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=)
|
rs767655504
|
0.00001
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
NM_001370259.2(MEN1):c.1589A>C (p.Glu530Ala)
|
rs1565636654
|
0.00001
|
NM_001370259.2(MEN1):c.159C>G (p.Val53=)
|
rs1411927545
|
0.00001
|
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg)
|
rs762867287
|
0.00001
|
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=)
|
rs1055457298
|
0.00001
|
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly)
|
rs775422717
|
0.00001
|
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=)
|
rs1349729840
|
0.00001
|
NM_001370259.2(MEN1):c.1653C>T (p.Leu551=)
|
rs1592630324
|
0.00001
|
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=)
|
rs143423552
|
0.00001
|
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)
|
rs757417271
|
0.00001
|
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile)
|
rs751839903
|
0.00001
|
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=)
|
rs1114167530
|
0.00001
|
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=)
|
rs765105348
|
0.00001
|
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=)
|
rs759563305
|
0.00001
|
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)
|
rs1411766225
|
0.00001
|
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)
|
rs1157546350
|
0.00001
|
NM_001370259.2(MEN1):c.177C>G (p.Pro59=)
|
rs749001511
|
0.00001
|
NM_001370259.2(MEN1):c.178G>C (p.Glu60Gln)
|
rs1174208039
|
0.00001
|
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)
|
rs1366457977
|
0.00001
|
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)
|
rs137880635
|
0.00001
|
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu)
|
rs757766498
|
0.00001
|
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)
|
rs150308912
|
0.00001
|
NM_001370259.2(MEN1):c.219C>T (p.Gly73=)
|
rs758434243
|
0.00001
|
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu)
|
rs1238113583
|
0.00001
|
NM_001370259.2(MEN1):c.249G>T (p.Leu83=)
|
rs386134252
|
0.00001
|
NM_001370259.2(MEN1):c.258C>T (p.Ile86=)
|
rs759731868
|
0.00001
|
NM_001370259.2(MEN1):c.275G>A (p.Arg92His)
|
rs375628323
|
0.00001
|
NM_001370259.2(MEN1):c.300C>G (p.Ala100=)
|
rs773136972
|
0.00001
|
NM_001370259.2(MEN1):c.303C>T (p.Val101=)
|
rs1463347315
|
0.00001
|
NM_001370259.2(MEN1):c.322C>G (p.Arg108Gly)
|
rs794728647
|
0.00001
|
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln)
|
rs1565651551
|
0.00001
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
NM_001370259.2(MEN1):c.336C>G (p.Val112=)
|
rs1200092213
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.345T>C (p.Arg115=)
|
rs748948131
|
0.00001
|
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys)
|
rs1060499992
|
0.00001
|
NM_001370259.2(MEN1):c.349C>T (p.Leu117=)
|
rs1941984891
|
0.00001
|
NM_001370259.2(MEN1):c.387C>G (p.Leu129=)
|
rs1257890690
|
0.00001
|
NM_001370259.2(MEN1):c.390C>T (p.Ser130=)
|
rs771272168
|
0.00001
|
NM_001370259.2(MEN1):c.396C>T (p.Ser132=)
|
rs896947172
|
0.00001
|
NM_001370259.2(MEN1):c.446-11C>G
|
rs1273035105
|
0.00001
|
NM_001370259.2(MEN1):c.446-3C>A
|
rs377461506
|
0.00001
|
NM_001370259.2(MEN1):c.465C>T (p.Ser155=)
|
rs936786553
|
0.00001
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val)
|
rs794728617
|
0.00001
|
NM_001370259.2(MEN1):c.476T>C (p.Phe159Ser)
|
rs1555165861
|
0.00001
|
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala)
|
rs748648909
|
0.00001
|
NM_001370259.2(MEN1):c.48C>T (p.Ile16=)
|
rs1060503797
|
0.00001
|
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)
|
rs1565648547
|
0.00001
|
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn)
|
rs1399824473
|
0.00001
|
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly)
|
rs1157581823
|
0.00001
|
NM_001370259.2(MEN1):c.513G>C (p.Arg171=)
|
rs560870111
|
0.00001
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val)
|
rs1064794683
|
0.00001
|
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser)
|
rs1209606579
|
0.00001
|
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)
|
rs1555165742
|
0.00001
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
NM_001370259.2(MEN1):c.573G>A (p.Glu191=)
|
rs1592651018
|
0.00001
|
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)
|
rs749844029
|
0.00001
|
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys)
|
rs1392579402
|
0.00001
|
NM_001370259.2(MEN1):c.621G>A (p.Arg207=)
|
rs779966911
|
0.00001
|
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser)
|
rs1438685841
|
0.00001
|
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)
|
rs781493730
|
0.00001
|
NM_001370259.2(MEN1):c.654+5T>C
|
rs757049384
|
0.00001
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=)
|
rs778921501
|
0.00001
|
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)
|
rs760289964
|
0.00001
|
NM_001370259.2(MEN1):c.711G>A (p.Ala237=)
|
rs144677807
|
0.00001
|
NM_001370259.2(MEN1):c.720G>T (p.Val240=)
|
rs1555165534
|
0.00001
|
NM_001370259.2(MEN1):c.726C>T (p.Ala242=)
|
rs1198651608
|
0.00001
|
NM_001370259.2(MEN1):c.729C>T (p.Ile243=)
|
rs1353237754
|
0.00001
|
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala)
|
rs1175283759
|
0.00001
|
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val)
|
rs1462138625
|
0.00001
|
NM_001370259.2(MEN1):c.783+7G>A
|
rs1060503793
|
0.00001
|
NM_001370259.2(MEN1):c.784-129T>A
|
rs536461697
|
0.00001
|
NM_001370259.2(MEN1):c.801C>G (p.Leu267=)
|
rs760850856
|
0.00001
|
NM_001370259.2(MEN1):c.824+12G>A
|
rs768402169
|
0.00001
|
NM_001370259.2(MEN1):c.824+19C>G
|
rs1941789202
|
0.00001
|
NM_001370259.2(MEN1):c.825-14T>C
|
rs773447061
|
0.00001
|
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=)
|
rs1060503789
|
0.00001
|
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)
|
rs368619946
|
0.00001
|
NM_001370259.2(MEN1):c.843G>C (p.Gly281=)
|
rs562620826
|
0.00001
|
NM_001370259.2(MEN1):c.849G>A (p.Leu283=)
|
rs1592646641
|
0.00001
|
NM_001370259.2(MEN1):c.856C>T (p.Leu286=)
|
rs542321016
|
0.00001
|
NM_001370259.2(MEN1):c.861G>A (p.Glu287=)
|
rs1336658836
|
0.00001
|
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)
|
rs1397110438
|
0.00001
|
NM_001370259.2(MEN1):c.913-8C>T
|
rs373893527
|
0.00001
|
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp)
|
rs139936447
|
0.00001
|
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp)
|
rs756604268
|
0.00001
|
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys)
|
rs377403837
|
0.00001
|
NM_001370259.2(MEN1):c.984C>T (p.His328=)
|
rs757323408
|
0.00001
|
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys)
|
rs1565644005
|
0.00001
|
NM_001370259.2(MEN1):c.990C>A (p.Arg330=)
|
rs1359880787
|
0.00001
|
NM_001370259.2(MEN1):c.999T>C (p.Asn333=)
|
rs763133775
|
0.00001
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
NM_002070.4(GNAI2):c.536G>A (p.Arg179His)
|
rs137853227
|
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.314C>T (p.Ala105Val)
|
rs769051095
|
0.00001
|
NM_002382.5(MAX):c.332T>G (p.Leu111Arg)
|
rs1477107672
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
|
rs779789251
|
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_002529.4(NTRK1):c.1381G>A (p.Gly461Arg)
|
rs761247634
|
0.00001
|
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His)
|
rs200022271
|
0.00001
|
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro)
|
rs1306924167
|
0.00001
|
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)
|
rs547972574
|
0.00001
|
NM_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_003001.3(SDHC):c.*1481G>A
|
rs886045486
|
0.00001
|
NM_003001.3(SDHC):c.*1699A>G
|
rs886045490
|
0.00001
|
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_003001.5(SDHC):c.20+12G>C
|
rs1014189365
|
0.00001
|
NM_003001.5(SDHC):c.20+12_20+13insTA
|
rs1403146281
|
0.00001
|
NM_003001.5(SDHC):c.20+20G>T
|
rs763464678
|
0.00001
|
NM_003001.5(SDHC):c.20+3G>A
|
rs377566366
|
0.00001
|
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
NM_003001.5(SDHC):c.242-17C>T
|
rs1672283295
|
0.00001
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
NM_003001.5(SDHC):c.309G>A (p.Val103=)
|
rs768273090
|
0.00001
|
NM_003001.5(SDHC):c.312G>A (p.Lys104=)
|
rs1395923291
|
0.00001
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
NM_003001.5(SDHC):c.339C>T (p.Ile113=)
|
rs1047677628
|
0.00001
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
NM_003001.5(SDHC):c.372C>T (p.Leu124=)
|
rs766007157
|
0.00001
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
NM_003001.5(SDHC):c.405+12C>T
|
rs575479448
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
0.00001
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
NM_003001.5(SDHC):c.42C>T (p.Leu14=)
|
rs1331533952
|
0.00001
|
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
NM_003001.5(SDHC):c.78-18G>A
|
rs780106501
|
0.00001
|
NM_003001.5(SDHC):c.78-1G>A
|
rs786202200
|
0.00001
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003001.5(SDHC):c.9G>A (p.Ala3=)
|
rs749265569
|
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_003011.4(SET):c.701A>G (p.Glu234Gly)
|
rs768759521
|
0.00001
|
NM_003977.4(AIP):c.100-6C>A
|
rs539027647
|
0.00001
|
NM_003977.4(AIP):c.104C>T (p.Thr35Met)
|
rs376797001
|
0.00001
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
NM_003977.4(AIP):c.116G>A (p.Arg39Gln)
|
rs139947406
|
0.00001
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
NM_003977.4(AIP):c.144C>T (p.Thr48=)
|
rs772658134
|
0.00001
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
|
rs267606538
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.319A>G (p.Asn107Asp)
|
rs758681469
|
0.00001
|
NM_003977.4(AIP):c.326C>T (p.Ala109Val)
|
rs548910485
|
0.00001
|
NM_003977.4(AIP):c.356G>A (p.Arg119Gln)
|
rs746414951
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.532G>A (p.Ala178Thr)
|
rs762351007
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys)
|
rs780149133
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
0.00001
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
NM_004168.4(SDHA):c.1017T>C (p.Ser339=)
|
rs752738784
|
0.00001
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
NM_004168.4(SDHA):c.1026G>T (p.Val342=)
|
rs1060505004
|
0.00001
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1065-16T>C
|
rs765268601
|
0.00001
|
NM_004168.4(SDHA):c.1065-17G>A
|
rs1268945057
|
0.00001
|
NM_004168.4(SDHA):c.1065-7T>C
|
rs1426933226
|
0.00001
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
NM_004168.4(SDHA):c.1110C>T (p.His370=)
|
rs1579406318
|
0.00001
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
NM_004168.4(SDHA):c.1140G>C (p.Leu380=)
|
rs146348714
|
0.00001
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1155G>A (p.Glu385=)
|
rs765356526
|
0.00001
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)
|
rs377317558
|
0.00001
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
NM_004168.4(SDHA):c.1194G>A (p.Glu398=)
|
rs1735703214
|
0.00001
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1197G>A (p.Pro399=)
|
rs771919335
|
0.00001
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
NM_004168.4(SDHA):c.1260+15T>C
|
rs778457213
|
0.00001
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
NM_004168.4(SDHA):c.1261-5C>A
|
rs751471707
|
0.00001
|
NM_004168.4(SDHA):c.1264C>T (p.Leu422=)
|
rs1405485459
|
0.00001
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
NM_004168.4(SDHA):c.1281C>T (p.Gly427=)
|
rs561918468
|
0.00001
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)
|
rs762494024
|
0.00001
|
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)
|
rs751561561
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)
|
rs75091805
|
0.00001
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
NM_004168.4(SDHA):c.1398A>G (p.Ala466=)
|
rs878854626
|
0.00001
|
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)
|
rs556476038
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
NM_004168.4(SDHA):c.1432+18G>C
|
rs763298397
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
NM_004168.4(SDHA):c.1461C>T (p.Asn487=)
|
rs187540602
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
NM_004168.4(SDHA):c.1476T>C (p.Ser492=)
|
rs1376968004
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
NM_004168.4(SDHA):c.150+12C>T
|
rs773966272
|
0.00001
|
NM_004168.4(SDHA):c.150+18G>C
|
rs759611800
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.151-6T>A
|
rs1352062665
|
0.00001
|
NM_004168.4(SDHA):c.151-9C>T
|
rs1734881724
|
0.00001
|
NM_004168.4(SDHA):c.1524A>G (p.Thr508=)
|
rs1356814435
|
0.00001
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
NM_004168.4(SDHA):c.1551+4A>G
|
rs928294715
|
0.00001
|
NM_004168.4(SDHA):c.1551+7G>C
|
rs760796714
|
0.00001
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
NM_004168.4(SDHA):c.1552-13T>C
|
rs1280763236
|
0.00001
|
NM_004168.4(SDHA):c.1552-14A>G
|
rs762315793
|
0.00001
|
NM_004168.4(SDHA):c.1552-16A>G
|
rs1418838846
|
0.00001
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
NM_004168.4(SDHA):c.1552-7G>A
|
rs1351792129
|
0.00001
|
NM_004168.4(SDHA):c.1575G>A (p.Val525=)
|
rs766757653
|
0.00001
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
NM_004168.4(SDHA):c.1590C>T (p.Ser530=)
|
rs1060503701
|
0.00001
|
NM_004168.4(SDHA):c.1596G>A (p.Leu532=)
|
rs1449742263
|
0.00001
|
NM_004168.4(SDHA):c.15G>A (p.Arg5=)
|
rs1260744894
|
0.00001
|
NM_004168.4(SDHA):c.1605T>C (p.Gly535=)
|
rs1219265731
|
0.00001
|
NM_004168.4(SDHA):c.1611G>A (p.Gly537=)
|
rs1060505009
|
0.00001
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
NM_004168.4(SDHA):c.162G>A (p.Gln54=)
|
rs1468436658
|
0.00001
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
NM_004168.4(SDHA):c.1644C>T (p.His548=)
|
rs1126427
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1663+19C>T
|
rs1214851392
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1663+20T>C
|
rs1226482893
|
0.00001
|
NM_004168.4(SDHA):c.1664-13T>C
|
rs1057524514
|
0.00001
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
NM_004168.4(SDHA):c.1695C>G (p.Thr565=)
|
rs765113103
|
0.00001
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
NM_004168.4(SDHA):c.1707G>A (p.Gln569=)
|
rs959934068
|
0.00001
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
NM_004168.4(SDHA):c.1734C>G (p.Thr578=)
|
rs748328205
|
0.00001
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
NM_004168.4(SDHA):c.1794+17C>T
|
rs747352875
|
0.00001
|
NM_004168.4(SDHA):c.1794+18G>A
|
rs768882490
|
0.00001
|
NM_004168.4(SDHA):c.1794+19C>A
|
rs776409305
|
0.00001
|
NM_004168.4(SDHA):c.1794+8T>A
|
rs1050394308
|
0.00001
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=)
|
rs1226342299
|
0.00001
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
NM_004168.4(SDHA):c.1827C>A (p.Pro609=)
|
rs1060505006
|
0.00001
|
NM_004168.4(SDHA):c.1860G>A (p.Glu620=)
|
rs1447230295
|
0.00001
|
NM_004168.4(SDHA):c.1879C>T (p.Leu627=)
|
rs1169965410
|
0.00001
|
NM_004168.4(SDHA):c.1881G>C (p.Leu627=)
|
rs1390181757
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
NM_004168.4(SDHA):c.1890G>C (p.Val630=)
|
rs1405784467
|
0.00001
|
NM_004168.4(SDHA):c.1893C>T (p.Asp631=)
|
rs1364764796
|
0.00001
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
NM_004168.4(SDHA):c.1909-18C>T
|
rs781153748
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=)
|
rs1444319863
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
NM_004168.4(SDHA):c.1968C>T (p.Thr656=)
|
rs3211499
|
0.00001
|
NM_004168.4(SDHA):c.1971C>T (p.Val657=)
|
rs746083858
|
0.00001
|
NM_004168.4(SDHA):c.1974G>A (p.Pro658=)
|
rs1042446
|
0.00001
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
NM_004168.4(SDHA):c.198G>A (p.Val66=)
|
rs1429525714
|
0.00001
|
NM_004168.4(SDHA):c.19C>T (p.Leu7=)
|
rs760964443
|
0.00001
|
NM_004168.4(SDHA):c.219C>G (p.Gly73=)
|
rs776288745
|
0.00001
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
NM_004168.4(SDHA):c.228T>G (p.Ala76=)
|
rs1416043203
|
0.00001
|
NM_004168.4(SDHA):c.237C>T (p.Gly79=)
|
rs767927763
|
0.00001
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
NM_004168.4(SDHA):c.252G>T (p.Gly84=)
|
rs753293451
|
0.00001
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
NM_004168.4(SDHA):c.312+16C>T
|
rs771169259
|
0.00001
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
NM_004168.4(SDHA):c.313-8G>A
|
rs1060503710
|
0.00001
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.360G>A (p.Arg120=)
|
rs1247649190
|
0.00001
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
NM_004168.4(SDHA):c.378C>T (p.Thr126=)
|
rs756039268
|
0.00001
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
NM_004168.4(SDHA):c.390C>T (p.Ser130=)
|
rs748976493
|
0.00001
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
NM_004168.4(SDHA):c.423C>T (p.Tyr141=)
|
rs768897373
|
0.00001
|
NM_004168.4(SDHA):c.429G>A (p.Thr143=)
|
rs906281170
|
0.00001
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
NM_004168.4(SDHA):c.456+10G>A
|
rs781436294
|
0.00001
|
NM_004168.4(SDHA):c.456+16C>T
|
rs748175384
|
0.00001
|
NM_004168.4(SDHA):c.456+18C>G
|
rs770457461
|
0.00001
|
NM_004168.4(SDHA):c.457-11A>G
|
rs748265289
|
0.00001
|
NM_004168.4(SDHA):c.457-16T>C
|
rs371775474
|
0.00001
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
NM_004168.4(SDHA):c.471C>T (p.Gly157=)
|
rs1553997722
|
0.00001
|
NM_004168.4(SDHA):c.477G>A (p.Pro159=)
|
rs771741537
|
0.00001
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
NM_004168.4(SDHA):c.516A>G (p.Ala172=)
|
rs181278759
|
0.00001
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
NM_004168.4(SDHA):c.534C>T (p.Leu178=)
|
rs749329370
|
0.00001
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
NM_004168.4(SDHA):c.546G>A (p.Lys182=)
|
rs757707693
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.564G>A (p.Arg188=)
|
rs1579385933
|
0.00001
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
NM_004168.4(SDHA):c.57C>G (p.Ala19=)
|
rs749948037
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
NM_004168.4(SDHA):c.621+10C>T
|
rs1458669735
|
0.00001
|
NM_004168.4(SDHA):c.621+19A>G
|
rs772849135
|
0.00001
|
NM_004168.4(SDHA):c.621+8C>T
|
rs201091275
|
0.00001
|
NM_004168.4(SDHA):c.621+9G>A
|
rs1060505005
|
0.00001
|
NM_004168.4(SDHA):c.627G>A (p.Leu209=)
|
rs149821224
|
0.00001
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
NM_004168.4(SDHA):c.63+16G>C
|
rs1252759825
|
0.00001
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
NM_004168.4(SDHA):c.633T>C (p.Tyr211=)
|
rs1307665893
|
0.00001
|
NM_004168.4(SDHA):c.64-12C>T
|
rs769476810
|
0.00001
|
NM_004168.4(SDHA):c.64-15C>T
|
rs1388748464
|
0.00001
|
NM_004168.4(SDHA):c.64-19G>A
|
rs1490248268
|
0.00001
|
NM_004168.4(SDHA):c.64-3C>T
|
rs772607568
|
0.00001
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg)
|
rs41495051
|
0.00001
|
NM_004168.4(SDHA):c.687G>A (p.Gly229=)
|
rs775359678
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.6G>A (p.Ser2=)
|
rs751383247
|
0.00001
|
NM_004168.4(SDHA):c.702C>T (p.Val234=)
|
rs1205748459
|
0.00001
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
NM_004168.4(SDHA):c.708A>G (p.Ala236=)
|
rs774277601
|
0.00001
|
NM_004168.4(SDHA):c.709C>T (p.Leu237=)
|
rs1735173554
|
0.00001
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
NM_004168.4(SDHA):c.729C>T (p.Ser243=)
|
rs778543446
|
0.00001
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
NM_004168.4(SDHA):c.770+7A>T
|
rs770997653
|
0.00001
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.831G>A (p.Thr277=)
|
rs1470632146
|
0.00001
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
NM_004168.4(SDHA):c.852C>A (p.Gly284=)
|
rs552108762
|
0.00001
|
NM_004168.4(SDHA):c.852C>G (p.Gly284=)
|
rs552108762
|
0.00001
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
NM_004168.4(SDHA):c.858T>A (p.Pro286=)
|
rs1553998661
|
0.00001
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
NM_004168.4(SDHA):c.895+6G>A
|
rs765946047
|
0.00001
|
NM_004168.4(SDHA):c.895+8A>G
|
rs892273080
|
0.00001
|
NM_004168.4(SDHA):c.896-4G>A
|
rs555881974
|
0.00001
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
NM_004168.4(SDHA):c.960C>T (p.Asn320=)
|
rs1289327970
|
0.00001
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
NM_004168.4(SDHA):c.975G>A (p.Arg325=)
|
rs1418778005
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
NM_004168.4(SDHA):c.990C>T (p.Tyr330=)
|
rs370547766
|
0.00001
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
NM_004168.4(SDHA):c.9G>T (p.Gly3=)
|
rs1252447154
|
0.00001
|
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg)
|
rs763114749
|
0.00001
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
NM_004366.6(CLCN2):c.1143del (p.Gly382fs)
|
rs863225252
|
0.00001
|
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His)
|
rs1303886490
|
0.00001
|
NM_004366.6(CLCN2):c.221-4C>A
|
rs748018356
|
0.00001
|
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)
|
rs755134167
|
0.00001
|
NM_004366.6(CLCN2):c.481+18G>A
|
rs759220889
|
0.00001
|
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)
|
rs1293789661
|
0.00001
|
NM_004366.6(CLCN2):c.672C>T (p.Ser224=)
|
rs755629585
|
0.00001
|
NM_004366.6(CLCN2):c.775G>A (p.Val259Ile)
|
rs757549500
|
0.00001
|
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)
|
rs863225250
|
0.00001
|
NM_004366.6(CLCN2):c.932G>A (p.Arg311Gln)
|
rs1382714741
|
0.00001
|
NM_004482.4(GALNT3):c.*28G>T
|
rs1688303362
|
0.00001
|
NM_004482.4(GALNT3):c.*319A>C
|
rs886055012
|
0.00001
|
NM_004482.4(GALNT3):c.-227C>T
|
rs886055015
|
0.00001
|
NM_004482.4(GALNT3):c.-309G>A
|
rs886055017
|
0.00001
|
NM_004482.4(GALNT3):c.-73C>T
|
rs971726102
|
0.00001
|
NM_004482.4(GALNT3):c.1524+3G>A
|
rs1204200153
|
0.00001
|
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly)
|
rs780631238
|
0.00001
|
NM_004482.4(GALNT3):c.1627-3T>C
|
rs373125597
|
0.00001
|
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu)
|
rs779573886
|
0.00001
|
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter)
|
rs137853087
|
0.00001
|
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys)
|
rs371697905
|
0.00001
|
NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter)
|
rs775341386
|
0.00001
|
NM_004482.4(GALNT3):c.803dup (p.Thr269fs)
|
rs766750282
|
0.00001
|
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)
|
rs137853090
|
0.00001
|
NM_004482.4(GALNT3):c.838+10T>C
|
rs201497875
|
0.00001
|
NM_004482.4(GALNT3):c.918T>C (p.Ile306=)
|
rs753659298
|
0.00001
|
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln)
|
rs534895356
|
0.00001
|
NM_004752.4(GCM2):c.1504A>C (p.Asn502His)
|
rs533942394
|
0.00001
|
NM_004795.4(KL):c.*1486T>C
|
rs1872386469
|
0.00001
|
NM_004795.4(KL):c.*1728A>G
|
rs556620337
|
0.00001
|
NM_004795.4(KL):c.*174A>G
|
rs886050121
|
0.00001
|
NM_004795.4(KL):c.*1750T>C
|
rs886050129
|
0.00001
|
NM_004795.4(KL):c.*17A>G
|
rs1308258377
|
0.00001
|
NM_004795.4(KL):c.*587G>C
|
rs532213166
|
0.00001
|
NM_004795.4(KL):c.1331-3C>A
|
rs748430461
|
0.00001
|
NM_004795.4(KL):c.1331-4G>A
|
rs779243484
|
0.00001
|
NM_004795.4(KL):c.1374G>C (p.Trp458Cys)
|
rs762838530
|
0.00001
|
NM_004795.4(KL):c.1557T>A (p.Phe519Leu)
|
rs750440983
|
0.00001
|
NM_004795.4(KL):c.1626C>T (p.Thr542=)
|
rs746870927
|
0.00001
|
NM_004795.4(KL):c.1811C>A (p.Pro604His)
|
rs751229348
|
0.00001
|
NM_004795.4(KL):c.1848G>A (p.Leu616=)
|
rs1872157300
|
0.00001
|
NM_004795.4(KL):c.2300C>G (p.Ser767Cys)
|
rs1872192864
|
0.00001
|
NM_004795.4(KL):c.254A>G (p.Lys85Arg)
|
rs1190809246
|
0.00001
|
NM_004795.4(KL):c.257G>A (p.Gly86Asp)
|
rs1477759912
|
0.00001
|
NM_004795.4(KL):c.2684T>C (p.Ile895Thr)
|
rs387907441
|
0.00001
|
NM_004795.4(KL):c.2779C>T (p.Leu927Phe)
|
rs777126851
|
0.00001
|
NM_004795.4(KL):c.2874T>G (p.Thr958=)
|
rs746291771
|
0.00001
|
NM_004795.4(KL):c.2959G>A (p.Ala987Thr)
|
rs755999183
|
0.00001
|
NM_004795.4(KL):c.486G>A (p.Ala162=)
|
rs371131557
|
0.00001
|
NM_004795.4(KL):c.535C>T (p.Arg179Trp)
|
rs746435085
|
0.00001
|
NM_004795.4(KL):c.578A>G (p.His193Arg)
|
rs121908423
|
0.00001
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter)
|
rs376688893
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_005343.4(HRAS):c.546G>A (p.Met182Ile)
|
rs748639813
|
0.00001
|
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys)
|
rs1271146910
|
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_017654.4(SAMD9):c.1030C>T (p.Arg344Ter)
|
rs543007243
|
0.00001
|
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)
|
rs1470207548
|
0.00001
|
NM_017654.4(SAMD9):c.2611G>T (p.Glu871Ter)
|
rs746591776
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)
|
rs1290938428
|
0.00001
|
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter)
|
rs767558735
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)
|
rs749431351
|
0.00001
|
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile)
|
rs752462796
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr)
|
rs755605816
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.370+3A>G
|
rs773940746
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu)
|
rs370174263
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
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.154G>T (p.Ala52Ser)
|
rs767257269
|
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.211G>A (p.Val71Met)
|
rs142947571
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro)
|
rs766918841
|
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.556G>C (p.Ala186Pro)
|
rs764012422
|
0.00001
|
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)
|
rs140860906
|
0.00001
|
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr)
|
rs756818796
|
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.658T>C (p.Tyr220His)
|
rs1684141729
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_020638.3(FGF23):c.*1134A>T
|
rs1865034354
|
0.00001
|
NM_020638.3(FGF23):c.*1925A>G
|
rs886049397
|
0.00001
|
NM_020638.3(FGF23):c.*614G>A
|
rs886049401
|
0.00001
|
NM_020638.3(FGF23):c.*93G>A
|
rs886049410
|
0.00001
|
NM_020638.3(FGF23):c.138A>G (p.Thr46=)
|
rs368115734
|
0.00001
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala)
|
rs774018822
|
0.00001
|
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu)
|
rs573322878
|
0.00001
|
NM_020638.3(FGF23):c.51C>T (p.Cys17=)
|
rs752187740
|
0.00001
|
NM_020638.3(FGF23):c.57G>A (p.Met19Ile)
|
rs766148024
|
0.00001
|
NM_020638.3(FGF23):c.673G>A (p.Gly225Arg)
|
rs750025882
|
0.00001
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
NM_020975.6(RET):c.*1112A>G
|
rs1353594500
|
0.00001
|
NM_020975.6(RET):c.*1533A>G
|
rs1838409564
|
0.00001
|
NM_020975.6(RET):c.*175C>G
|
rs886046990
|
0.00001
|
NM_020975.6(RET):c.-158G>A
|
rs886046984
|
0.00001
|
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)
|
rs144981275
|
0.00001
|
NM_020975.6(RET):c.1029C>T (p.Asn343=)
|
rs764668178
|
0.00001
|
NM_020975.6(RET):c.1030G>A (p.Gly344Ser)
|
rs749883001
|
0.00001
|
NM_020975.6(RET):c.1038C>T (p.Phe346=)
|
rs1240935395
|
0.00001
|
NM_020975.6(RET):c.1042C>T (p.Arg348Trp)
|
rs1183365192
|
0.00001
|
NM_020975.6(RET):c.1046C>T (p.Ala349Val)
|
rs754859905
|
0.00001
|
NM_020975.6(RET):c.1047G>A (p.Ala349=)
|
rs373208682
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
NM_020975.6(RET):c.1052T>A (p.Val351Glu)
|
rs749449032
|
0.00001
|
NM_020975.6(RET):c.1059C>T (p.Asp353=)
|
rs1290621703
|
0.00001
|
NM_020975.6(RET):c.1063+10G>A
|
rs374666249
|
0.00001
|
NM_020975.6(RET):c.1063+20C>T
|
rs769558279
|
0.00001
|
NM_020975.6(RET):c.1064-18T>C
|
rs546346375
|
0.00001
|
NM_020975.6(RET):c.1078C>A (p.Arg360=)
|
rs1424549058
|
0.00001
|
NM_020975.6(RET):c.1079G>A (p.Arg360Gln)
|
rs762472027
|
0.00001
|
NM_020975.6(RET):c.1090A>G (p.Ile364Val)
|
rs1308447836
|
0.00001
|
NM_020975.6(RET):c.1092C>T (p.Ile364=)
|
rs759548155
|
0.00001
|
NM_020975.6(RET):c.109T>C (p.Trp37Arg)
|
rs777042445
|
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.114G>A (p.Glu38=)
|
rs762096025
|
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.1163T>C (p.Val388Ala)
|
rs751939820
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1173C>G (p.Leu391=)
|
rs757868491
|
0.00001
|
NM_020975.6(RET):c.1183G>A (p.Val395Met)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1216A>G (p.Ser406Gly)
|
rs756532455
|
0.00001
|
NM_020975.6(RET):c.1220C>T (p.Thr407Ile)
|
rs1837858286
|
0.00001
|
NM_020975.6(RET):c.1221C>T (p.Thr407=)
|
rs1222385123
|
0.00001
|
NM_020975.6(RET):c.1222T>A (p.Tyr408Asn)
|
rs778754580
|
0.00001
|
NM_020975.6(RET):c.1233C>T (p.Ser411=)
|
rs779374978
|
0.00001
|
NM_020975.6(RET):c.1234G>A (p.Val412Met)
|
rs746970700
|
0.00001
|
NM_020975.6(RET):c.1249C>T (p.Arg417Cys)
|
rs1478152005
|
0.00001
|
NM_020975.6(RET):c.125T>C (p.Val42Ala)
|
rs773375434
|
0.00001
|
NM_020975.6(RET):c.1263+19C>T
|
rs371417381
|
0.00001
|
NM_020975.6(RET):c.1263+9A>C
|
rs1837861041
|
0.00001
|
NM_020975.6(RET):c.1264-6C>A
|
rs1255010070
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1266C>T (p.Ile422=)
|
rs759582152
|
0.00001
|
NM_020975.6(RET):c.1271A>G (p.Lys424Arg)
|
rs1176090269
|
0.00001
|
NM_020975.6(RET):c.1275C>G (p.Val425=)
|
rs200458714
|
0.00001
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
NM_020975.6(RET):c.1282G>A (p.Glu428Lys)
|
rs1327111345
|
0.00001
|
NM_020975.6(RET):c.1287C>A (p.Asn429Lys)
|
rs1324777252
|
0.00001
|
NM_020975.6(RET):c.1289G>A (p.Cys430Tyr)
|
rs1837913861
|
0.00001
|
NM_020975.6(RET):c.129C>A (p.Asp43Glu)
|
rs1488040686
|
0.00001
|
NM_020975.6(RET):c.1305C>T (p.Gly435=)
|
rs749093977
|
0.00001
|
NM_020975.6(RET):c.1306A>G (p.Ile436Val)
|
rs770736612
|
0.00001
|
NM_020975.6(RET):c.1352C>T (p.Thr451Met)
|
rs774092678
|
0.00001
|
NM_020975.6(RET):c.1364T>C (p.Val455Ala)
|
rs752267460
|
0.00001
|
NM_020975.6(RET):c.1367C>T (p.Thr456Ile)
|
rs1286634866
|
0.00001
|
NM_020975.6(RET):c.1374C>T (p.Ala458=)
|
rs190750926
|
0.00001
|
NM_020975.6(RET):c.1386G>A (p.Ser462=)
|
rs587780807
|
0.00001
|
NM_020975.6(RET):c.138C>T (p.Ala46=)
|
rs1177522214
|
0.00001
|
NM_020975.6(RET):c.139G>A (p.Gly47Ser)
|
rs529018971
|
0.00001
|
NM_020975.6(RET):c.1421G>A (p.Arg474Gln)
|
rs747139265
|
0.00001
|
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)
|
rs763296134
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1453G>A (p.Val485Met)
|
rs1837922208
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1463C>T (p.Thr488Ile)
|
rs1218693745
|
0.00001
|
NM_020975.6(RET):c.1464C>T (p.Thr488=)
|
rs921948385
|
0.00001
|
NM_020975.6(RET):c.147C>T (p.Pro49=)
|
rs1219548567
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1504G>A (p.Val502Ile)
|
rs770395347
|
0.00001
|
NM_020975.6(RET):c.1515G>A (p.Glu505=)
|
rs924204743
|
0.00001
|
NM_020975.6(RET):c.1522+13T>C
|
rs1156386471
|
0.00001
|
NM_020975.6(RET):c.1522+18G>A
|
rs763517546
|
0.00001
|
NM_020975.6(RET):c.1522+20A>G
|
rs1053383471
|
0.00001
|
NM_020975.6(RET):c.1522T>C (p.Tyr508His)
|
rs775152474
|
0.00001
|
NM_020975.6(RET):c.1538C>G (p.Ala513Gly)
|
rs149238501
|
0.00001
|
NM_020975.6(RET):c.1539G>A (p.Ala513=)
|
rs761430718
|
0.00001
|
NM_020975.6(RET):c.1548C>A (p.Pro516=)
|
rs1246004706
|
0.00001
|
NM_020975.6(RET):c.1566C>T (p.Ser522=)
|
rs929663686
|
0.00001
|
NM_020975.6(RET):c.1574G>A (p.Arg525Gln)
|
rs752830820
|
0.00001
|
NM_020975.6(RET):c.157G>A (p.Val53Ile)
|
rs547308774
|
0.00001
|
NM_020975.6(RET):c.1588G>C (p.Glu530Gln)
|
rs1372959588
|
0.00001
|
NM_020975.6(RET):c.159C>T (p.Val53=)
|
rs753523209
|
0.00001
|
NM_020975.6(RET):c.15G>C (p.Thr5=)
|
rs1226499208
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1613C>G (p.Thr538Arg)
|
rs148406803
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1620G>A (p.Arg540=)
|
rs776381183
|
0.00001
|
NM_020975.6(RET):c.1648+20A>G
|
rs1354240192
|
0.00001
|
NM_020975.6(RET):c.1648+24G>A
|
rs1057517640
|
0.00001
|
NM_020975.6(RET):c.1649-7T>C
|
rs758817204
|
0.00001
|
NM_020975.6(RET):c.1649G>A (p.Gly550Glu)
|
rs747844360
|
0.00001
|
NM_020975.6(RET):c.1656C>A (p.Thr552=)
|
rs1348246688
|
0.00001
|
NM_020975.6(RET):c.1681A>C (p.Ser561Arg)
|
rs201972250
|
0.00001
|
NM_020975.6(RET):c.1682G>C (p.Ser561Thr)
|
rs1161678851
|
0.00001
|
NM_020975.6(RET):c.1683C>A (p.Ser561Arg)
|
rs1837973045
|
0.00001
|
NM_020975.6(RET):c.1686C>T (p.Thr562=)
|
rs767502292
|
0.00001
|
NM_020975.6(RET):c.1698C>T (p.Pro566=)
|
rs760507059
|
0.00001
|
NM_020975.6(RET):c.1706A>G (p.His569Arg)
|
rs765256156
|
0.00001
|
NM_020975.6(RET):c.170G>A (p.Arg57Gln)
|
rs779915615
|
0.00001
|
NM_020975.6(RET):c.1710C>T (p.Cys570=)
|
rs144015580
|
0.00001
|
NM_020975.6(RET):c.1711G>A (p.Asp571Asn)
|
rs750958377
|
0.00001
|
NM_020975.6(RET):c.1713T>C (p.Asp571=)
|
rs1588872813
|
0.00001
|
NM_020975.6(RET):c.1727A>G (p.Gln576Arg)
|
rs1284377464
|
0.00001
|
NM_020975.6(RET):c.1749G>A (p.Gln583=)
|
rs1588872861
|
0.00001
|
NM_020975.6(RET):c.174C>T (p.Asp58=)
|
rs746943314
|
0.00001
|
NM_020975.6(RET):c.1756C>T (p.Leu586Phe)
|
rs777604634
|
0.00001
|
NM_020975.6(RET):c.1759+9G>A
|
rs1216094635
|
0.00001
|
NM_020975.6(RET):c.1759C>T (p.Arg587Trp)
|
rs748905470
|
0.00001
|
NM_020975.6(RET):c.1760-20T>C
|
rs766839936
|
0.00001
|
NM_020975.6(RET):c.1760-3C>T
|
rs587781734
|
0.00001
|
NM_020975.6(RET):c.1768A>G (p.Ile590Val)
|
rs1307072968
|
0.00001
|
NM_020975.6(RET):c.1770T>C (p.Ile590=)
|
rs1160114479
|
0.00001
|
NM_020975.6(RET):c.1773T>C (p.Val591=)
|
rs756902570
|
0.00001
|
NM_020975.6(RET):c.1782C>T (p.His594=)
|
rs863224426
|
0.00001
|
NM_020975.6(RET):c.1796C>A (p.Pro599His)
|
rs1468422135
|
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.1816T>C (p.Tyr606His)
|
rs199921511
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1840G>A (p.Glu614Lys)
|
rs769971379
|
0.00001
|
NM_020975.6(RET):c.1863G>A (p.Glu621=)
|
rs766438951
|
0.00001
|
NM_020975.6(RET):c.1871A>G (p.Asp624Gly)
|
rs1224456563
|
0.00001
|
NM_020975.6(RET):c.1879+20G>A
|
rs779561398
|
0.00001
|
NM_020975.6(RET):c.1880-12C>G
|
rs374893494
|
0.00001
|
NM_020975.6(RET):c.1882C>T (p.Pro628Ser)
|
rs754466051
|
0.00001
|
NM_020975.6(RET):c.1884A>G (p.Pro628=)
|
rs786202671
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.18C>T (p.Ser6=)
|
rs1185431356
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1903C>T (p.Arg635Cys)
|
rs377767410
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1907C>T (p.Thr636Met)
|
rs1035958105
|
0.00001
|
NM_020975.6(RET):c.1908G>A (p.Thr636=)
|
rs886038663
|
0.00001
|
NM_020975.6(RET):c.1910T>G (p.Val637Gly)
|
rs1713933379
|
0.00001
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
NM_020975.6(RET):c.1917A>G (p.Ala639=)
|
rs1343990457
|
0.00001
|
NM_020975.6(RET):c.1918G>A (p.Ala640Thr)
|
rs1224994492
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.1926C>G (p.Val642=)
|
rs766962871
|
0.00001
|
NM_020975.6(RET):c.1956G>A (p.Leu652=)
|
rs954292063
|
0.00001
|
NM_020975.6(RET):c.1958C>G (p.Ser653Cys)
|
rs753724503
|
0.00001
|
NM_020975.6(RET):c.1973A>G (p.His658Arg)
|
rs1274484329
|
0.00001
|
NM_020975.6(RET):c.1986G>A (p.Lys662=)
|
rs1295196408
|
0.00001
|
NM_020975.6(RET):c.1996A>C (p.Lys666Gln)
|
rs143795581
|
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.19G>A (p.Gly7Ser)
|
rs1257661718
|
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.2040C>G (p.Ala680=)
|
rs1336334127
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2051C>T (p.Pro684Leu)
|
rs760088950
|
0.00001
|
NM_020975.6(RET):c.2058C>T (p.Ser686=)
|
rs757141171
|
0.00001
|
NM_020975.6(RET):c.2063C>T (p.Ser688Phe)
|
rs1588874330
|
0.00001
|
NM_020975.6(RET):c.2066C>T (p.Ser689Phe)
|
rs989429215
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2073T>C (p.Gly691=)
|
rs1174566929
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2079C>G (p.Arg693=)
|
rs747166722
|
0.00001
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
NM_020975.6(RET):c.2090T>A (p.Leu697Gln)
|
rs1293039001
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2115C>T (p.Ser705=)
|
rs1247902894
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2136+14C>T
|
rs368361145
|
0.00001
|
NM_020975.6(RET):c.2137-13A>G
|
rs1314541806
|
0.00001
|
NM_020975.6(RET):c.2137-16C>G
|
rs369817691
|
0.00001
|
NM_020975.6(RET):c.2158C>T (p.Pro720Ser)
|
rs1060500753
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_020975.6(RET):c.2164A>G (p.Lys722Glu)
|
rs1262183810
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
NM_020975.6(RET):c.2190A>G (p.Leu730=)
|
rs377616279
|
0.00001
|
NM_020975.6(RET):c.219C>T (p.Tyr73=)
|
rs761460588
|
0.00001
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
NM_020975.6(RET):c.2222C>G (p.Ala741Gly)
|
rs761397627
|
0.00001
|
NM_020975.6(RET):c.2232C>G (p.Phe744Leu)
|
rs766035127
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2237T>C (p.Leu746Pro)
|
rs755085530
|
0.00001
|
NM_020975.6(RET):c.2243G>A (p.Gly748Asp)
|
rs1314127008
|
0.00001
|
NM_020975.6(RET):c.2245A>G (p.Arg749Gly)
|
rs1210164099
|
0.00001
|
NM_020975.6(RET):c.2246G>C (p.Arg749Thr)
|
rs34288963
|
0.00001
|
NM_020975.6(RET):c.2249C>G (p.Ala750Gly)
|
rs752830000
|
0.00001
|
NM_020975.6(RET):c.2268C>T (p.Ala756=)
|
rs370791179
|
0.00001
|
NM_020975.6(RET):c.2284+6_2284+7del
|
rs1163200373
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
0.00001
|
NM_020975.6(RET):c.2288A>T (p.Asn763Ile)
|
rs199882293
|
0.00001
|
NM_020975.6(RET):c.2289C>T (p.Asn763=)
|
rs777349208
|
0.00001
|
NM_020975.6(RET):c.2294C>T (p.Ser765Phe)
|
rs1442097853
|
0.00001
|
NM_020975.6(RET):c.2319G>A (p.Leu773=)
|
rs1270003828
|
0.00001
|
NM_020975.6(RET):c.2349C>T (p.Asn783=)
|
rs1160720188
|
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.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2393-18C>A
|
rs934773074
|
0.00001
|
NM_020975.6(RET):c.2393-7C>T
|
rs746844157
|
0.00001
|
NM_020975.6(RET):c.2412G>A (p.Val804=)
|
rs767045208
|
0.00001
|
NM_020975.6(RET):c.2422A>G (p.Lys808Glu)
|
rs1372786615
|
0.00001
|
NM_020975.6(RET):c.2430C>G (p.Gly810=)
|
rs749997455
|
0.00001
|
NM_020975.6(RET):c.2437C>T (p.Arg813Trp)
|
rs779996040
|
0.00001
|
NM_020975.6(RET):c.2438G>A (p.Arg813Gln)
|
rs1318733775
|
0.00001
|
NM_020975.6(RET):c.2448C>A (p.Leu816=)
|
rs368500000
|
0.00001
|
NM_020975.6(RET):c.2462A>G (p.Lys821Arg)
|
rs876659895
|
0.00001
|
NM_020975.6(RET):c.2478C>T (p.Tyr826=)
|
rs1588877223
|
0.00001
|
NM_020975.6(RET):c.2485A>G (p.Ser829Gly)
|
rs113005278
|
0.00001
|
NM_020975.6(RET):c.2486G>C (p.Ser829Thr)
|
rs943720843
|
0.00001
|
NM_020975.6(RET):c.2491G>A (p.Gly831Ser)
|
rs775981129
|
0.00001
|
NM_020975.6(RET):c.2496C>G (p.Ser832Arg)
|
rs764979358
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_020975.6(RET):c.2544G>A (p.Met848Ile)
|
rs772684105
|
0.00001
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2547C>T (p.Gly849=)
|
rs770674650
|
0.00001
|
NM_020975.6(RET):c.2548G>A (p.Asp850Asn)
|
rs772862503
|
0.00001
|
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr)
|
rs772862503
|
0.00001
|
NM_020975.6(RET):c.2558C>T (p.Ser853Leu)
|
rs1406662248
|
0.00001
|
NM_020975.6(RET):c.2583G>T (p.Gly861=)
|
rs146628741
|
0.00001
|
NM_020975.6(RET):c.2598C>T (p.Ala866=)
|
rs202029768
|
0.00001
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
NM_020975.6(RET):c.2608-19G>C
|
rs773241624
|
0.00001
|
NM_020975.6(RET):c.2643G>A (p.Leu881=)
|
rs1227304934
|
0.00001
|
NM_020975.6(RET):c.2661G>A (p.Lys887=)
|
rs771617878
|
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.2683T>A (p.Leu895Met)
|
rs761720362
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
NM_020975.6(RET):c.2728C>G (p.Gln910Glu)
|
rs1282729859
|
0.00001
|
NM_020975.6(RET):c.2730+12C>T
|
rs372080924
|
0.00001
|
NM_020975.6(RET):c.2731-14C>T
|
rs1305296450
|
0.00001
|
NM_020975.6(RET):c.2735G>T (p.Arg912Leu)
|
rs78347871
|
0.00001
|
NM_020975.6(RET):c.273C>T (p.Asp91=)
|
rs761325339
|
0.00001
|
NM_020975.6(RET):c.2754G>A (p.Met918Ile)
|
rs753208054
|
0.00001
|
NM_020975.6(RET):c.2758A>G (p.Ile920Val)
|
rs527787676
|
0.00001
|
NM_020975.6(RET):c.276C>T (p.Thr92=)
|
rs886042820
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.2784C>T (p.Tyr928=)
|
rs779594537
|
0.00001
|
NM_020975.6(RET):c.2801+9G>A
|
rs780912886
|
0.00001
|
NM_020975.6(RET):c.2802-17C>T
|
rs750812195
|
0.00001
|
NM_020975.6(RET):c.2802-4G>T
|
rs878855061
|
0.00001
|
NM_020975.6(RET):c.2802-7T>A
|
rs1838266905
|
0.00001
|
NM_020975.6(RET):c.2815G>A (p.Val939Ile)
|
rs1554819950
|
0.00001
|
NM_020975.6(RET):c.2832C>T (p.Ile944=)
|
rs755606269
|
0.00001
|
NM_020975.6(RET):c.2844G>A (p.Gly948=)
|
rs749196396
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2887C>A (p.Leu963Ile)
|
rs864622603
|
0.00001
|
NM_020975.6(RET):c.2897C>T (p.Thr966Ile)
|
rs760765930
|
0.00001
|
NM_020975.6(RET):c.2898C>T (p.Thr966=)
|
rs373693875
|
0.00001
|
NM_020975.6(RET):c.2915G>A (p.Arg972Lys)
|
rs1384605415
|
0.00001
|
NM_020975.6(RET):c.2934G>A (p.Glu978=)
|
rs767306671
|
0.00001
|
NM_020975.6(RET):c.2936A>G (p.Glu979Gly)
|
rs752352085
|
0.00001
|
NM_020975.6(RET):c.2939+20G>A
|
rs201756161
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2940-8C>T
|
rs753438225
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.294C>T (p.Asn98=)
|
rs1470411479
|
0.00001
|
NM_020975.6(RET):c.2973G>C (p.Glu991Asp)
|
rs1351903863
|
0.00001
|
NM_020975.6(RET):c.2979C>G (p.Asp993Glu)
|
rs1368893442
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.2989G>C (p.Val997Leu)
|
rs781236624
|
0.00001
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
NM_020975.6(RET):c.3020A>C (p.Lys1007Thr)
|
rs759798237
|
0.00001
|
NM_020975.6(RET):c.3027G>A (p.Met1009Ile)
|
rs1007307889
|
0.00001
|
NM_020975.6(RET):c.3040-17C>T
|
rs1191850114
|
0.00001
|
NM_020975.6(RET):c.3040-19G>A
|
rs376588907
|
0.00001
|
NM_020975.6(RET):c.3040G>A (p.Asp1014Asn)
|
rs1371047639
|
0.00001
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
NM_020975.6(RET):c.3051C>G (p.Asp1017Glu)
|
rs993057046
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3057G>A (p.Ala1019=)
|
rs369579749
|
0.00001
|
NM_020975.6(RET):c.3078C>T (p.Ser1026=)
|
rs756466984
|
0.00001
|
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn)
|
rs200989078
|
0.00001
|
NM_020975.6(RET):c.3093C>T (p.Asp1031=)
|
rs369116900
|
0.00001
|
NM_020975.6(RET):c.3102A>G (p.Ser1034=)
|
rs1455526573
|
0.00001
|
NM_020975.6(RET):c.3117G>A (p.Pro1039=)
|
rs775773414
|
0.00001
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
NM_020975.6(RET):c.312C>A (p.Ser104Arg)
|
rs746378333
|
0.00001
|
NM_020975.6(RET):c.3131A>G (p.Asn1044Ser)
|
rs772807570
|
0.00001
|
NM_020975.6(RET):c.3139C>T (p.Pro1047Ser)
|
rs369152977
|
0.00001
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly)
|
rs767479170
|
0.00001
|
NM_020975.6(RET):c.3165A>G (p.Thr1055=)
|
rs200289472
|
0.00001
|
NM_020975.6(RET):c.3166T>A (p.Trp1056Arg)
|
rs373423271
|
0.00001
|
NM_020975.6(RET):c.3166T>C (p.Trp1056Arg)
|
rs373423271
|
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.3188-19G>T
|
rs571011726
|
0.00001
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
NM_020975.6(RET):c.3196G>C (p.Asp1066His)
|
rs180700967
|
0.00001
|
NM_020975.6(RET):c.3201G>C (p.Pro1067=)
|
rs878855062
|
0.00001
|
NM_020975.6(RET):c.3204C>T (p.Asn1068=)
|
rs768699100
|
0.00001
|
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)
|
rs776615468
|
0.00001
|
NM_020975.6(RET):c.322A>C (p.Lys108Gln)
|
rs567877611
|
0.00001
|
NM_020975.6(RET):c.324G>C (p.Lys108Asn)
|
rs775974393
|
0.00001
|
NM_020975.6(RET):c.3256G>A (p.Gly1086Arg)
|
rs778452896
|
0.00001
|
NM_020975.6(RET):c.3280A>G (p.Ser1094Gly)
|
rs1171787901
|
0.00001
|
NM_020975.6(RET):c.3281G>A (p.Ser1094Asn)
|
rs1198591686
|
0.00001
|
NM_020975.6(RET):c.3287A>G (p.Tyr1096Cys)
|
rs768752146
|
0.00001
|
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro)
|
rs1305555370
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.3315G>A (p.Ala1105=)
|
rs766572480
|
0.00001
|
NM_020975.6(RET):c.3317C>G (p.Ala1106Gly)
|
rs1338777037
|
0.00001
|
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)
|
rs587780813
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_020975.6(RET):c.3333G>A (p.Thr1111=)
|
rs753203348
|
0.00001
|
NM_020975.6(RET):c.333C>G (p.Val111=)
|
rs772779267
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.340C>T (p.Arg114Cys)
|
rs747483905
|
0.00001
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
NM_020975.6(RET):c.361G>A (p.Val121Ile)
|
rs770548816
|
0.00001
|
NM_020975.6(RET):c.391T>C (p.Ser131Pro)
|
rs375576038
|
0.00001
|
NM_020975.6(RET):c.397C>T (p.Arg133Cys)
|
rs1564490056
|
0.00001
|
NM_020975.6(RET):c.430C>T (p.Arg144Cys)
|
rs1588863984
|
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.43T>C (p.Leu15=)
|
rs1418746925
|
0.00001
|
NM_020975.6(RET):c.444C>G (p.Ser148=)
|
rs1554817550
|
0.00001
|
NM_020975.6(RET):c.447C>T (p.Phe149=)
|
rs989787527
|
0.00001
|
NM_020975.6(RET):c.451A>G (p.Asn151Asp)
|
rs1837661067
|
0.00001
|
NM_020975.6(RET):c.45G>A (p.Leu15=)
|
rs876660157
|
0.00001
|
NM_020975.6(RET):c.464C>A (p.Pro155Gln)
|
rs999019810
|
0.00001
|
NM_020975.6(RET):c.473G>A (p.Ser158Asn)
|
rs780067540
|
0.00001
|
NM_020975.6(RET):c.480C>G (p.Leu160=)
|
rs1837662149
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.528T>G (p.Ile176Met)
|
rs556686338
|
0.00001
|
NM_020975.6(RET):c.530G>A (p.Arg177Gln)
|
rs759229505
|
0.00001
|
NM_020975.6(RET):c.543C>G (p.Pro181=)
|
rs1456922776
|
0.00001
|
NM_020975.6(RET):c.544C>A (p.Pro182Thr)
|
rs775086466
|
0.00001
|
NM_020975.6(RET):c.547G>A (p.Gly183Ser)
|
rs1060500760
|
0.00001
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
NM_020975.6(RET):c.565C>G (p.Arg189Gly)
|
rs1210452561
|
0.00001
|
NM_020975.6(RET):c.57G>C (p.Leu19=)
|
rs1316429203
|
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.607G>A (p.Ala203Thr)
|
rs755007607
|
0.00001
|
NM_020975.6(RET):c.60G>C (p.Pro20=)
|
rs1263991822
|
0.00001
|
NM_020975.6(RET):c.618C>T (p.Leu206=)
|
rs1377770977
|
0.00001
|
NM_020975.6(RET):c.625+11A>G
|
rs778239396
|
0.00001
|
NM_020975.6(RET):c.625+13C>T
|
rs961333253
|
0.00001
|
NM_020975.6(RET):c.625+9C>T
|
rs201453349
|
0.00001
|
NM_020975.6(RET):c.625G>A (p.Gly209Ser)
|
rs1407201816
|
0.00001
|
NM_020975.6(RET):c.626-19C>T
|
rs1426050483
|
0.00001
|
NM_020975.6(RET):c.626-6G>T
|
rs913593524
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020975.6(RET):c.639C>T (p.Pro213=)
|
rs1303761164
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020975.6(RET):c.657C>T (p.Asp219=)
|
rs1837729196
|
0.00001
|
NM_020975.6(RET):c.658A>T (p.Ser220Cys)
|
rs1484566321
|
0.00001
|
NM_020975.6(RET):c.667G>A (p.Val223Met)
|
rs587780815
|
0.00001
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
NM_020975.6(RET):c.678C>T (p.Arg226=)
|
rs142421698
|
0.00001
|
NM_020975.6(RET):c.686T>C (p.Leu229Pro)
|
rs767654905
|
0.00001
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
NM_020975.6(RET):c.702G>A (p.Arg234=)
|
rs764759271
|
0.00001
|
NM_020975.6(RET):c.722C>T (p.Ala241Val)
|
rs1178140696
|
0.00001
|
NM_020975.6(RET):c.73+8C>T
|
rs1193805611
|
0.00001
|
NM_020975.6(RET):c.73+9T>G
|
rs1041204849
|
0.00001
|
NM_020975.6(RET):c.743G>C (p.Gly248Ala)
|
rs749189193
|
0.00001
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
NM_020975.6(RET):c.768G>C (p.Val256=)
|
rs1588866143
|
0.00001
|
NM_020975.6(RET):c.776C>T (p.Pro259Leu)
|
rs759812068
|
0.00001
|
NM_020975.6(RET):c.812C>T (p.Thr271Ile)
|
rs1361019662
|
0.00001
|
NM_020975.6(RET):c.819C>G (p.Pro273=)
|
rs864622467
|
0.00001
|
NM_020975.6(RET):c.828C>T (p.Val276=)
|
rs876660380
|
0.00001
|
NM_020975.6(RET):c.829G>A (p.Asp277Asn)
|
rs1027662469
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.834C>T (p.Thr278=)
|
rs41306550
|
0.00001
|
NM_020975.6(RET):c.835G>A (p.Ala279Thr)
|
rs777221273
|
0.00001
|
NM_020975.6(RET):c.843C>T (p.Ala281=)
|
rs770794801
|
0.00001
|
NM_020975.6(RET):c.864G>A (p.Lys288=)
|
rs1227666582
|
0.00001
|
NM_020975.6(RET):c.867+15G>T
|
rs760940841
|
0.00001
|
NM_020975.6(RET):c.884C>T (p.Thr295Met)
|
rs758159521
|
0.00001
|
NM_020975.6(RET):c.885G>T (p.Thr295=)
|
rs1202206539
|
0.00001
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
NM_020975.6(RET):c.895T>G (p.Phe299Val)
|
rs1837776769
|
0.00001
|
NM_020975.6(RET):c.906C>T (p.Asp302=)
|
rs768934031
|
0.00001
|
NM_020975.6(RET):c.918A>G (p.Ala306=)
|
rs1060504034
|
0.00001
|
NM_020975.6(RET):c.933G>A (p.Val311=)
|
rs1210305963
|
0.00001
|
NM_020975.6(RET):c.937C>T (p.Arg313Trp)
|
rs1057521089
|
0.00001
|
NM_020975.6(RET):c.943A>C (p.Thr315Pro)
|
rs774637214
|
0.00001
|
NM_020975.6(RET):c.951G>T (p.Thr317=)
|
rs375812189
|
0.00001
|
NM_020975.6(RET):c.981G>A (p.Gln327=)
|
rs876658331
|
0.00001
|
NM_021930.6(RINT1):c.1107+1G>T
|
rs200989342
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2177-2A>G
|
rs1377982927
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val)
|
rs1317670560
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter)
|
rs1306728898
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)
|
rs1270566026
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly)
|
rs758727384
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs)
|
rs1841497902
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
|
rs780917129
|
0.00001
|
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter)
|
rs1375264465
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter)
|
rs768834772
|
0.00001
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
NM_024529.4(CDC73):c.-186C>G
|
rs886045710
|
0.00001
|
NM_024529.5(CDC73):c.*1292C>T
|
rs895043816
|
0.00001
|
NM_024529.5(CDC73):c.*1535A>G
|
rs1011765527
|
0.00001
|
NM_024529.5(CDC73):c.*1660A>G
|
rs1310867519
|
0.00001
|
NM_024529.5(CDC73):c.*2651T>G
|
rs886045730
|
0.00001
|
NM_024529.5(CDC73):c.*298A>T
|
rs1678035186
|
0.00001
|
NM_024529.5(CDC73):c.*3063G>A
|
rs182545034
|
0.00001
|
NM_024529.5(CDC73):c.*3714T>C
|
rs886045737
|
0.00001
|
NM_024529.5(CDC73):c.*3783C>T
|
rs1337028451
|
0.00001
|
NM_024529.5(CDC73):c.*3785A>G
|
rs886045738
|
0.00001
|
NM_024529.5(CDC73):c.*3875A>G
|
rs1678100975
|
0.00001
|
NM_024529.5(CDC73):c.*972A>G
|
rs886045717
|
0.00001
|
NM_024529.5(CDC73):c.-121G>A
|
rs886045711
|
0.00001
|
NM_024529.5(CDC73):c.-135C>T
|
rs1675456932
|
0.00001
|
NM_024529.5(CDC73):c.-167A>G
|
rs1156904196
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1030+10T>C
|
rs960030007
|
0.00001
|
NM_024529.5(CDC73):c.1031-18T>G
|
rs1322891058
|
0.00001
|
NM_024529.5(CDC73):c.1031-3C>T
|
rs770103860
|
0.00001
|
NM_024529.5(CDC73):c.1047T>G (p.Pro349=)
|
rs1225995248
|
0.00001
|
NM_024529.5(CDC73):c.1066+5G>A
|
rs1018448425
|
0.00001
|
NM_024529.5(CDC73):c.1067-4A>G
|
rs749519719
|
0.00001
|
NM_024529.5(CDC73):c.1067-4del
|
rs758036472
|
0.00001
|
NM_024529.5(CDC73):c.1067-9T>C
|
rs1253333879
|
0.00001
|
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)
|
rs771907995
|
0.00001
|
NM_024529.5(CDC73):c.1074A>G (p.Arg358=)
|
rs3203682
|
0.00001
|
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile)
|
rs1677294864
|
0.00001
|
NM_024529.5(CDC73):c.1080C>G (p.Pro360=)
|
rs1211967086
|
0.00001
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
NM_024529.5(CDC73):c.1105A>G (p.Thr369Ala)
|
rs762532730
|
0.00001
|
NM_024529.5(CDC73):c.111G>A (p.Lys37=)
|
rs1355286253
|
0.00001
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu)
|
rs587778167
|
0.00001
|
NM_024529.5(CDC73):c.1153A>C (p.Lys385Gln)
|
rs762203137
|
0.00001
|
NM_024529.5(CDC73):c.1154+17A>G
|
rs1677296857
|
0.00001
|
NM_024529.5(CDC73):c.1155-18A>G
|
rs570158564
|
0.00001
|
NM_024529.5(CDC73):c.1167A>C (p.Ser389=)
|
rs762138528
|
0.00001
|
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser)
|
rs746972930
|
0.00001
|
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg)
|
rs374856513
|
0.00001
|
NM_024529.5(CDC73):c.1194A>G (p.Gln398=)
|
rs1325048946
|
0.00001
|
NM_024529.5(CDC73):c.1212A>C (p.Leu404=)
|
rs552978336
|
0.00001
|
NM_024529.5(CDC73):c.1215A>T (p.Ile405=)
|
rs765427308
|
0.00001
|
NM_024529.5(CDC73):c.1234A>G (p.Met412Val)
|
rs752959843
|
0.00001
|
NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
|
rs780906083
|
0.00001
|
NM_024529.5(CDC73):c.1254A>C (p.Ala418=)
|
rs1364135790
|
0.00001
|
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val)
|
rs1198867364
|
0.00001
|
NM_024529.5(CDC73):c.1269A>G (p.Val423=)
|
rs745826358
|
0.00001
|
NM_024529.5(CDC73):c.1287C>T (p.Asp429=)
|
rs756002639
|
0.00001
|
NM_024529.5(CDC73):c.1308T>A (p.Pro436=)
|
rs991835494
|
0.00001
|
NM_024529.5(CDC73):c.131+10G>T
|
rs745330677
|
0.00001
|
NM_024529.5(CDC73):c.131+14G>C
|
rs374880255
|
0.00001
|
NM_024529.5(CDC73):c.131+17T>C
|
rs748937817
|
0.00001
|
NM_024529.5(CDC73):c.131+4A>G
|
rs878855089
|
0.00001
|
NM_024529.5(CDC73):c.1316+10T>A
|
rs1404967161
|
0.00001
|
NM_024529.5(CDC73):c.1317-6T>C
|
rs1422764501
|
0.00001
|
NM_024529.5(CDC73):c.132-10A>T
|
rs757250113
|
0.00001
|
NM_024529.5(CDC73):c.132-12T>A
|
rs751268088
|
0.00001
|
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr)
|
rs1553291414
|
0.00001
|
NM_024529.5(CDC73):c.1359G>A (p.Gln453=)
|
rs1572217729
|
0.00001
|
NM_024529.5(CDC73):c.1374A>G (p.Pro458=)
|
rs1257938148
|
0.00001
|
NM_024529.5(CDC73):c.138A>T (p.Gly46=)
|
rs1572142522
|
0.00001
|
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val)
|
rs1252554973
|
0.00001
|
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)
|
rs1678015324
|
0.00001
|
NM_024529.5(CDC73):c.1451G>A (p.Arg484His)
|
rs774557338
|
0.00001
|
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val)
|
rs761968225
|
0.00001
|
NM_024529.5(CDC73):c.1461A>C (p.Pro487=)
|
rs1214206363
|
0.00001
|
NM_024529.5(CDC73):c.1464T>C (p.Asn488=)
|
rs1001791306
|
0.00001
|
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)
|
rs1465509067
|
0.00001
|
NM_024529.5(CDC73):c.1551A>G (p.Thr517=)
|
rs752668844
|
0.00001
|
NM_024529.5(CDC73):c.1552T>C (p.Leu518=)
|
rs758050507
|
0.00001
|
NM_024529.5(CDC73):c.1559+20A>G
|
rs1281829953
|
0.00001
|
NM_024529.5(CDC73):c.1559+4A>G
|
rs1001095861
|
0.00001
|
NM_024529.5(CDC73):c.1559+9G>A
|
rs1335505407
|
0.00001
|
NM_024529.5(CDC73):c.1560-11del
|
rs772000043
|
0.00001
|
NM_024529.5(CDC73):c.1572G>A (p.Lys524=)
|
rs988984386
|
0.00001
|
NM_024529.5(CDC73):c.1574A>G (p.His525Arg)
|
rs188778681
|
0.00001
|
NM_024529.5(CDC73):c.1575T>G (p.His525Gln)
|
rs1378278674
|
0.00001
|
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu)
|
rs767254478
|
0.00001
|
NM_024529.5(CDC73):c.1595G>A (p.Ter532=)
|
rs1358200605
|
0.00001
|
NM_024529.5(CDC73):c.187C>T (p.Leu63=)
|
rs779704449
|
0.00001
|
NM_024529.5(CDC73):c.198C>T (p.Asn66=)
|
rs1216098981
|
0.00001
|
NM_024529.5(CDC73):c.199G>A (p.Val67Met)
|
rs748952219
|
0.00001
|
NM_024529.5(CDC73):c.204C>T (p.His68=)
|
rs1052345208
|
0.00001
|
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)
|
rs886041158
|
0.00001
|
NM_024529.5(CDC73):c.228A>G (p.Arg76=)
|
rs978907694
|
0.00001
|
NM_024529.5(CDC73):c.238-16A>C
|
rs1440236127
|
0.00001
|
NM_024529.5(CDC73):c.273A>C (p.Arg91=)
|
rs1675670810
|
0.00001
|
NM_024529.5(CDC73):c.280C>T (p.Leu94=)
|
rs747811573
|
0.00001
|
NM_024529.5(CDC73):c.288A>G (p.Gly96=)
|
rs144194535
|
0.00001
|
NM_024529.5(CDC73):c.303A>C (p.Glu101Asp)
|
rs372978307
|
0.00001
|
NM_024529.5(CDC73):c.315G>A (p.Ser105=)
|
rs771258964
|
0.00001
|
NM_024529.5(CDC73):c.318A>C (p.Ala106=)
|
rs1415842827
|
0.00001
|
NM_024529.5(CDC73):c.322A>G (p.Ile108Val)
|
rs1475793228
|
0.00001
|
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)
|
rs763095800
|
0.00001
|
NM_024529.5(CDC73):c.36C>T (p.Asn12=)
|
rs1238773294
|
0.00001
|
NM_024529.5(CDC73):c.370+17A>G
|
rs760583012
|
0.00001
|
NM_024529.5(CDC73):c.371-17T>C
|
rs763780849
|
0.00001
|
NM_024529.5(CDC73):c.371-5T>C
|
rs968260282
|
0.00001
|
NM_024529.5(CDC73):c.372C>G (p.Val124=)
|
rs746368285
|
0.00001
|
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr)
|
rs756584058
|
0.00001
|
NM_024529.5(CDC73):c.391G>A (p.Val131Ile)
|
rs769052041
|
0.00001
|
NM_024529.5(CDC73):c.416G>A (p.Arg139Gln)
|
rs1675778391
|
0.00001
|
NM_024529.5(CDC73):c.423+12G>A
|
rs1442957149
|
0.00001
|
NM_024529.5(CDC73):c.424-17C>A
|
rs750008798
|
0.00001
|
NM_024529.5(CDC73):c.424-7T>C
|
rs370666592
|
0.00001
|
NM_024529.5(CDC73):c.429A>G (p.Glu143=)
|
rs1258202181
|
0.00001
|
NM_024529.5(CDC73):c.489G>A (p.Gly163=)
|
rs776075865
|
0.00001
|
NM_024529.5(CDC73):c.498G>A (p.Gln166=)
|
rs1553279087
|
0.00001
|
NM_024529.5(CDC73):c.501T>C (p.Thr167=)
|
rs200603992
|
0.00001
|
NM_024529.5(CDC73):c.512+10C>G
|
rs147939077
|
0.00001
|
NM_024529.5(CDC73):c.512+13T>C
|
rs1442435592
|
0.00001
|
NM_024529.5(CDC73):c.513-8G>T
|
rs757366134
|
0.00001
|
NM_024529.5(CDC73):c.519G>A (p.Leu173=)
|
rs749039338
|
0.00001
|
NM_024529.5(CDC73):c.534A>G (p.Ser178=)
|
rs150365980
|
0.00001
|
NM_024529.5(CDC73):c.546T>C (p.Ile182=)
|
rs1478351190
|
0.00001
|
NM_024529.5(CDC73):c.552A>C (p.Ala184=)
|
rs1170697980
|
0.00001
|
NM_024529.5(CDC73):c.609T>C (p.Asp203=)
|
rs1160145790
|
0.00001
|
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln)
|
rs1455683303
|
0.00001
|
NM_024529.5(CDC73):c.654A>G (p.Val218=)
|
rs1675913850
|
0.00001
|
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly)
|
rs776394390
|
0.00001
|
NM_024529.5(CDC73):c.690A>G (p.Val230=)
|
rs190156691
|
0.00001
|
NM_024529.5(CDC73):c.729+18C>T
|
rs767669963
|
0.00001
|
NM_024529.5(CDC73):c.729+20C>T
|
rs750619160
|
0.00001
|
NM_024529.5(CDC73):c.729+7A>G
|
rs1060503807
|
0.00001
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
0.00001
|
NM_024529.5(CDC73):c.754A>G (p.Ile252Val)
|
rs374290883
|
0.00001
|
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys)
|
rs878855091
|
0.00001
|
NM_024529.5(CDC73):c.788G>A (p.Arg263His)
|
rs1307745420
|
0.00001
|
NM_024529.5(CDC73):c.78C>T (p.Ile26=)
|
rs1675465371
|
0.00001
|
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu)
|
rs1335804597
|
0.00001
|
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln)
|
rs750706815
|
0.00001
|
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg)
|
rs370333081
|
0.00001
|
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser)
|
rs752383339
|
0.00001
|
NM_024529.5(CDC73):c.822A>G (p.Ala274=)
|
rs927001605
|
0.00001
|
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)
|
rs758391256
|
0.00001
|
NM_024529.5(CDC73):c.825T>C (p.Pro275=)
|
rs945631446
|
0.00001
|
NM_024529.5(CDC73):c.829-17A>C
|
rs1676082795
|
0.00001
|
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
|
rs754070093
|
0.00001
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
NM_024529.5(CDC73):c.84G>A (p.Gly28=)
|
rs780205664
|
0.00001
|
NM_024529.5(CDC73):c.856A>G (p.Ile286Val)
|
rs1362923384
|
0.00001
|
NM_024529.5(CDC73):c.889A>C (p.Arg297=)
|
rs748954863
|
0.00001
|
NM_024529.5(CDC73):c.907+20T>C
|
rs772519117
|
0.00001
|
NM_024529.5(CDC73):c.908-4G>T
|
rs748472788
|
0.00001
|
NM_024529.5(CDC73):c.933T>A (p.Thr311=)
|
rs1409062093
|
0.00001
|
NM_024529.5(CDC73):c.972+9A>C
|
rs1266238884
|
0.00001
|
NM_024529.5(CDC73):c.973-15C>T
|
rs1316699413
|
0.00001
|
NM_024529.5(CDC73):c.973-23487G>A
|
rs765816443
|
0.00001
|
NM_024529.5(CDC73):c.987C>T (p.Ala329=)
|
rs1037572907
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
CDC73, 41-BP DUP/INS
|
|
|
CLCN2, LYS362DEL
|
|
|
FGFR2-CLIP1 fusion
|
|
|
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
|
|
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)del
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161284196)_(161284215_?)del
|
|
|
NC_000001.10:g.(?_161293384)_(161293480_?)dup
|
|
|
NC_000001.10:g.(?_161293394)_(161293470_?)del
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161298176)_(161298297_?)del
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_161310364)_(161332223_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161310455_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161310384)_(161310445_?)dup
|
|
|
NC_000001.10:g.(?_161326447)_(161332223_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161326640_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17359660_?)dup
|
|
|
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.(?_17354234)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17356590)_(17359633_?)del
|
|
|
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.(?_17371236)_(17371403_?)dup
|
|
|
NC_000001.10:g.(?_17371236)_(17380514_?)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.(?_17380423)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
NC_000001.10:g.(?_193091321)_(193219852_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193099383_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193111206_?)dup
|
|
|
NC_000001.10:g.(?_193091331)_(193121594_?)del
|
|
|
NC_000001.10:g.(?_193091331)_(193172992_?)del
|
|
|
NC_000001.10:g.(?_193094232)_(193094357_?)del
|
|
|
NC_000001.10:g.(?_193094232)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193094317)_(193111354_?)del
|
|
|
NC_000001.10:g.(?_193099294)_(193111206_?)del
|
|
|
NC_000001.10:g.(?_193099298)_(193099379_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193104729_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193121584_?)dup
|
|
|
NC_000001.10:g.(?_193110960)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193110974)_(193219848_?)dup
|
|
|
NC_000001.10:g.(?_193172905)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172915)_(193172992_?)del
|
|
|
NC_000001.10:g.(?_193172915)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193172919)_(193205492_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193205486_?)dup
|
|
|
NC_000001.10:g.(?_193172925)_(193223945_?)dup
|
|
|
NC_000001.10:g.(?_193181185)_(193181617_?)del
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193202113)_(193205496_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193219842_?)dup
|
|
|
NC_000001.10:g.(?_193218850)_(193219852_?)dup
|
|
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
NC_000001.11:g.(?_160816880)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)del
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161314400)_(161362439_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161328507_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161340584)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356667)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362443_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356677)_(161356840_?)del
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018722)_(17054170_?)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.(?_17018875)_(17044894_?)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_000001.11:g.(?_193122191)_(193122341_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193150392_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122191)_(193250722_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193152454_?)dup
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)dup
|
|
|
NC_000001.11:g.(?_193125102)_(193130253_?)del
|
|
|
NC_000001.11:g.(?_193130168)_(193135595_?)del
|
|
|
NC_000001.11:g.(?_193130174)_(193130243_?)del
|
|
|
NC_000001.11:g.(?_193135381)_(193138183_?)del
|
|
|
NC_000001.11:g.(?_193141840)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193147857)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193203785)_(193250722_?)dup
|
|
|
NC_000001.11:g.(?_193236246)_(193236366_?)del
|
|
|
NC_000001.11:g.(?_193249724)_(193250718_?)del
|
|
|
NC_000001.11:g.161364751del
|
rs57914150
|
|
NC_000001.11:g.161367196_161370200delinsGTCA
|
|
|
NC_000001.11:g.186681189C>G
|
|
|
NC_000004.12:g.73740307A>T
|
|
|
NC_000010.10:g.(?_43572512)_(43596180_?)dup
|
|
|
NC_000010.10:g.(?_43572697)_(43623727_?)dup
|
|
|
NC_000010.10:g.(?_43572701)_(43623723_?)dup
|
|
|
NC_000010.10:g.(?_43595897)_(43623725_?)dup
|
|
|
NC_000010.10:g.(?_43595901)_(43598083_?)del
|
|
|
NC_000010.10:g.(?_43600390)_(43623725_?)dup
|
|
|
NC_000010.10:g.(?_43614959)_(43623717_?)dup
|
|
|
NC_000010.10:g.(?_43617300)_(43623793_?)dup
|
|
|
NC_000010.10:g.(?_43619099)_(43623717_?)dup
|
|
|
NC_000010.10:g.(?_43620311)_(43623717_?)dup
|
|
|
NC_000010.11:g.(?_43077064)_(43077341_?)dup
|
|
|
NC_000010.11:g.(?_43077064)_(43128277_?)dup
|
|
|
NC_000010.11:g.(?_43100449)_(43102639_?)del
|
|
|
NC_000010.11:g.(?_43100459)_(43102629_?)del
|
|
|
NC_000010.11:g.(?_43118363)_(43128277_?)dup
|
|
|
NC_000010.11:g.43077015GCCCC[4]
|
rs386134265
|
|
NC_000010.11:g.43116583GGA[1]
|
rs1838075264
|
|
NC_000010.11:g.43126578_43126586del
|
rs2133032314
|
|
NC_000010.11:g.71682535dup
|
rs753886326
|
|
NC_000010.11:g.71806223_71806224delinsTT
|
rs876657422
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112086824)_(112095801_?)del
|
|
|
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_000011.10:g.(?_64803514)_(64804816_?)del
|
|
|
NC_000011.10:g.(?_64803514)_(64810132_?)del
|
|
|
NC_000011.10:g.(?_64804324)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64804334)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64804334)_(64810716_?)dup
|
|
|
NC_000011.10:g.(?_64809655)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64809655)_(64810716_?)dup
|
|
|
NC_000011.10:g.(?_64809659)_(64810115_?)del
|
|
|
NC_000011.10:g.112093693_112095870del
|
|
|
NC_000011.10:g.64804807_64804818del
|
rs760199250
|
|
NC_000011.10:g.64806369del
|
rs1941733228
|
|
NC_000011.10:g.67481947_67487763del
|
|
|
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.(?_111957571)_(111966518_?)del
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000011.9:g.(?_111957632)_(111958717_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111959581)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111959651)_(111960112_?)del
|
|
|
NC_000011.9:g.(?_63731700)_(64572142_?)del
|
|
|
NC_000011.9:g.(?_64550219)_(64573119_?)del
|
|
|
NC_000011.9:g.(?_64567607)_(64572007_?)del
|
|
|
NC_000011.9:g.(?_64570260)_(64572077_?)del
|
|
|
NC_000011.9:g.(?_64571796)_(64572298_?)del
|
|
|
NC_000011.9:g.(?_64571806)_(64575581_?)del
|
|
|
NC_000011.9:g.(?_64572175)_(64575826_?)del
|
|
|
NC_000011.9:g.(?_64572622)_(64586228_?)del
|
|
|
NC_000011.9:g.(?_64573097)_(64575581_?)del
|
|
|
NC_000011.9:g.(?_64573385)_(64575394_?)del
|
|
|
NC_000011.9:g.(?_64574479)_(64584006_?)del
|
|
|
NC_000011.9:g.(?_64575120)_(64576450_?)del
|
|
|
NC_000011.9:g.(?_64575343)_(64578188_?)del
|
|
|
NC_000011.9:g.(?_64577559)_(64578852_?)del
|
|
|
NC_000011.9:g.(?_64578102)_(64578188_?)del
|
|
|
NC_000012.12:g.(1_3750000)_(5250000_9000000)del
|
|
|
NM_000038.6(APC):c.1015A>G (p.Ser339Gly)
|
rs1060503301
|
|
NM_000038.6(APC):c.1073A>G (p.Gln358Arg)
|
rs1064793508
|
|
NM_000038.6(APC):c.1094A>G (p.Lys365Arg)
|
rs1580529121
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
NM_000038.6(APC):c.1380del (p.Glu461fs)
|
|
|
NM_000038.6(APC):c.1462C>T (p.Leu488Phe)
|
rs587779782
|
|
NM_000038.6(APC):c.1475A>G (p.His492Arg)
|
rs1580565129
|
|
NM_000038.6(APC):c.1552A>G (p.Thr518Ala)
|
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1664C>G (p.Ala555Gly)
|
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.212G>C (p.Arg71Pro)
|
|
|
NM_000038.6(APC):c.2160G>A (p.Met720Ile)
|
rs1283428855
|
|
NM_000038.6(APC):c.2206A>T (p.Lys736Ter)
|
|
|
NM_000038.6(APC):c.232G>A (p.Asp78Asn)
|
rs1253209514
|
|
NM_000038.6(APC):c.2383C>G (p.Leu795Val)
|
rs1442780982
|
|
NM_000038.6(APC):c.2425A>G (p.Asn809Asp)
|
rs1580621960
|
|
NM_000038.6(APC):c.2573T>C (p.Ile858Thr)
|
rs1765215022
|
|
NM_000038.6(APC):c.2783C>T (p.Ala928Val)
|
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2845A>G (p.Met949Val)
|
rs587781348
|
|
NM_000038.6(APC):c.2896A>T (p.Ser966Cys)
|
|
|
NM_000038.6(APC):c.3122A>G (p.Gln1041Arg)
|
rs1554084709
|
|
NM_000038.6(APC):c.3209A>T (p.Asn1070Ile)
|
rs1315959337
|
|
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)
|
rs1580633119
|
|
NM_000038.6(APC):c.3309G>T (p.Arg1103Ser)
|
rs1580633773
|
|
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)
|
rs372855304
|
|
NM_000038.6(APC):c.3490A>G (p.Ile1164Val)
|
rs1554085052
|
|
NM_000038.6(APC):c.3632T>C (p.Met1211Thr)
|
rs575268622
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
NM_000038.6(APC):c.3773C>T (p.Thr1258Ile)
|
rs1765517499
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.406G>T (p.Glu136Ter)
|
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000038.6(APC):c.422+10C>G
|
rs899376835
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly)
|
rs1303200783
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000038.6(APC):c.4440G>C (p.Gln1480His)
|
rs876659881
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.461A>G (p.Glu154Gly)
|
rs1561477912
|
|
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)
|
rs1561594148
|
|
NM_000038.6(APC):c.4658C>T (p.Ala1553Val)
|
rs1554086050
|
|
NM_000038.6(APC):c.4708G>A (p.Asp1570Asn)
|
|
|
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)
|
rs774847203
|
|
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)
|
rs1554086241
|
|
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)
|
rs758987855
|
|
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)
|
rs587781600
|
|
NM_000038.6(APC):c.5042C>T (p.Ser1681Leu)
|
rs876659056
|
|
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)
|
rs1554086584
|
|
NM_000038.6(APC):c.5266TCT[2] (p.Ser1758del)
|
rs780061589
|
|
NM_000038.6(APC):c.5287A>G (p.Asn1763Asp)
|
rs1440736149
|
|
NM_000038.6(APC):c.5305A>C (p.Lys1769Gln)
|
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
NM_000038.6(APC):c.5459C>T (p.Ser1820Phe)
|
rs879367927
|
|
NM_000038.6(APC):c.5696A>T (p.Glu1899Val)
|
|
|
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)
|
rs1766164614
|
|
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)
|
rs786202975
|
|
NM_000038.6(APC):c.6293A>G (p.Asn2098Ser)
|
rs1766183030
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.645+1G>T
|
rs863225370
|
|
NM_000038.6(APC):c.646C>G (p.Arg216Gly)
|
rs62619935
|
|
NM_000038.6(APC):c.6602G>A (p.Gly2201Glu)
|
|
|
NM_000038.6(APC):c.6634dup (p.Gln2212fs)
|
|
|
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)
|
rs773539706
|
|
NM_000038.6(APC):c.6918T>A (p.Asp2306Glu)
|
rs1060503350
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.7085G>C (p.Gly2362Ala)
|
rs756740976
|
|
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)
|
rs1561612604
|
|
NM_000038.6(APC):c.7117A>G (p.Met2373Val)
|
rs879254221
|
|
NM_000038.6(APC):c.7264A>T (p.Thr2422Ser)
|
rs730881260
|
|
NM_000038.6(APC):c.7273A>G (p.Ser2425Gly)
|
rs730881261
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.7583T>C (p.Ile2528Thr)
|
rs730881264
|
|
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)
|
rs199806334
|
|
NM_000038.6(APC):c.7769A>C (p.Lys2590Thr)
|
|
|
NM_000038.6(APC):c.7922A>C (p.Lys2641Thr)
|
rs879254231
|
|
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)
|
rs1766608503
|
|
NM_000038.6(APC):c.8065A>G (p.Lys2689Glu)
|
rs1554088874
|
|
NM_000038.6(APC):c.8122A>G (p.Asn2708Asp)
|
rs1580690269
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
NM_000038.6(APC):c.8146G>T (p.Val2716Leu)
|
rs587778044
|
|
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)
|
rs1060503332
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.8391C>A (p.Ser2797Arg)
|
rs1060503256
|
|
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn)
|
rs1554089164
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.887G>C (p.Ser296Thr)
|
rs1762421045
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser)
|
|
|
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)
|
rs786202174
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000081.4(LYST):c.11149_11151dup (p.Val3717_Ser3718insVal)
|
|
|
NM_000123.4(ERCC5):c.1081del (p.Leu361fs)
|
rs2140527110
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000214.3(JAG1):c.3445_3448del (p.Ile1149fs)
|
|
|
NM_000244.4(MEN1):c.-35A>C
|
rs679946
|
|
NM_000244.4(MEN1):c.-35A>T
|
rs679946
|
|
NM_000245.4(MET):c.1067del (p.Pro356fs)
|
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
NM_000245.4(MET):c.2253A>T (p.Lys751Asn)
|
|
|
NM_000245.4(MET):c.2265-41G>C
|
|
|
NM_000245.4(MET):c.2363T>C (p.Val788Ala)
|
rs786204142
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
NM_000245.4(MET):c.2766A>G (p.Lys922=)
|
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
NM_000245.4(MET):c.2935C>T (p.His979Tyr)
|
rs1584955347
|
|
NM_000245.4(MET):c.3208G>T (p.Val1070Leu)
|
rs760285693
|
|
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
NM_000245.4(MET):c.3637G>A (p.Asp1213Asn)
|
|
|
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)
|
rs121913677
|
|
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)
|
rs121913676
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
|
|
|
NM_000245.4(MET):c.709G>A (p.Val237Ile)
|
rs757402499
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
|
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu)
|
rs63750285
|
|
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)
|
rs2104180665
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1264A>G (p.Ile422Val)
|
|
|
NM_000321.3(RB1):c.1285A>C (p.Lys429Gln)
|
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
NM_000321.3(RB1):c.2017C>T (p.His673Tyr)
|
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2482A>G (p.Arg828Gly)
|
|
|
NM_000321.3(RB1):c.2678G>T (p.Gly893Val)
|
|
|
NM_000321.3(RB1):c.276T>G (p.Ile92Met)
|
rs1555282772
|
|
NM_000321.3(RB1):c.339G>A (p.Met113Ile)
|
rs1593434250
|
|
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup)
|
rs572454921
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)
|
rs768305224
|
|
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)
|
rs1208736713
|
|
NM_000376.3(VDR):c.1024+283G>A
|
rs1544410
|
|
NM_000388.4(CASR):c.*1011T>A
|
rs922763349
|
|
NM_000388.4(CASR):c.*188dup
|
rs33974189
|
|
NM_000388.4(CASR):c.*60A>T
|
rs4677948
|
|
NM_000388.4(CASR):c.*640G>T
|
rs201855028
|
|
NM_000388.4(CASR):c.*790T>C
|
rs886057834
|
|
NM_000388.4(CASR):c.-137C>A
|
rs201074178
|
|
NM_000388.4(CASR):c.-378del
|
rs537119483
|
|
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)
|
rs548403340
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.108dup (p.Leu37fs)
|
rs886041823
|
|
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
|
|
|
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn)
|
rs2074634402
|
|
NM_000388.4(CASR):c.1116C>T (p.Thr372=)
|
rs539867627
|
|
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)
|
rs201338034
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser)
|
rs2074635544
|
|
NM_000388.4(CASR):c.127G>A (p.Gly43Arg)
|
rs866899753
|
|
NM_000388.4(CASR):c.1287C>A (p.His429Gln)
|
rs746515147
|
|
NM_000388.4(CASR):c.1293G>T (p.Leu431Phe)
|
|
|
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
|
rs1553766916
|
|
NM_000388.4(CASR):c.130G>A (p.Val44Ile)
|
rs2074530467
|
|
NM_000388.4(CASR):c.1354A>G (p.Ile452Val)
|
rs756206452
|
|
NM_000388.4(CASR):c.1390C>G (p.Leu464Val)
|
rs778165189
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
|
|
|
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)
|
rs1156349993
|
|
NM_000388.4(CASR):c.1507A>G (p.Ile503Val)
|
rs200910001
|
|
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)
|
rs193922423
|
|
NM_000388.4(CASR):c.1609-11C>G
|
|
|
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)
|
rs201202700
|
|
NM_000388.4(CASR):c.1639C>A (p.Leu547Met)
|
|
|
NM_000388.4(CASR):c.1665T>C (p.Ile555=)
|
rs201955278
|
|
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)
|
rs104893690
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)
|
rs1052956823
|
|
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
|
|
|
NM_000388.4(CASR):c.183C>T (p.Ile61=)
|
rs2074531684
|
|
NM_000388.4(CASR):c.1842C>G (p.Ile614Met)
|
rs199513106
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
NM_000388.4(CASR):c.186G>C (p.Arg62Ser)
|
|
|
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)
|
rs2107627423
|
|
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
|
rs104893705
|
|
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln)
|
rs757736220
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)
|
rs104893700
|
|
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)
|
rs753013993
|
|
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
|
|
|
NM_000388.4(CASR):c.205C>T (p.Arg69Cys)
|
rs1313627454
|
|
NM_000388.4(CASR):c.2065G>A (p.Val689Met)
|
rs2107649885
|
|
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser)
|
rs1576877437
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr)
|
rs2074528024
|
|
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)
|
rs757302986
|
|
NM_000388.4(CASR):c.2107C>T (p.Leu703Phe)
|
|
|
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)
|
rs759337909
|
|
NM_000388.4(CASR):c.2234C>G (p.Thr745Ser)
|
|
|
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)
|
rs869320729
|
|
NM_000388.4(CASR):c.2263G>A (p.Glu755Lys)
|
|
|
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser)
|
rs754332943
|
|
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile)
|
rs754332943
|
|
NM_000388.4(CASR):c.235G>C (p.Glu79Gln)
|
|
|
NM_000388.4(CASR):c.2439C>T (p.Ile813=)
|
rs1228810304
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2480G>A (p.Ser827Asn)
|
|
|
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser)
|
rs2107650603
|
|
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)
|
rs2074939751
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
|
rs373819680
|
|
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
|
rs766445416
|
|
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys)
|
rs2074941438
|
|
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg)
|
rs1553769162
|
|
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)
|
rs749125441
|
|
NM_000388.4(CASR):c.270C>T (p.Asn90=)
|
rs201944670
|
|
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)
|
rs2074946020
|
|
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)
|
rs104893709
|
|
NM_000388.4(CASR):c.2938del (p.Asp980fs)
|
|
|
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg)
|
rs878853975
|
|
NM_000388.4(CASR):c.2980C>T (p.His994Tyr)
|
rs1559969980
|
|
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)
|
rs1244383237
|
|
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg)
|
rs780255825
|
|
NM_000388.4(CASR):c.3017C>T (p.Thr1006Met)
|
|
|
NM_000388.4(CASR):c.3026_3031delinsAACACC (p.Arg1009_Glu1011delinsGlnHisGln)
|
|
|
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile)
|
rs202219108
|
|
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp)
|
rs765519865
|
|
NM_000388.4(CASR):c.3175T>C (p.Ser1059Pro)
|
|
|
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
|
|
|
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.367T>A (p.Leu123Met)
|
rs2107627702
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
|
rs121909260
|
|
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
|
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)
|
rs1060502860
|
|
NM_000388.4(CASR):c.493-12G>T
|
rs199514129
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.50C>T (p.Thr17Ile)
|
rs1424489717
|
|
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
|
|
|
NM_000388.4(CASR):c.528C>G (p.Asn176Lys)
|
|
|
NM_000388.4(CASR):c.54T>G (p.Ser18=)
|
rs558522564
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)
|
rs104893697
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000388.4(CASR):c.708C>T (p.Cys236=)
|
|
|
NM_000388.4(CASR):c.721G>A (p.Glu241Lys)
|
rs2107632158
|
|
NM_000388.4(CASR):c.739T>G (p.Ser247Ala)
|
|
|
NM_000388.4(CASR):c.749A>G (p.Glu250Gly)
|
rs1256348744
|
|
NM_000388.4(CASR):c.74G>A (p.Arg25Gln)
|
rs568902441
|
|
NM_000388.4(CASR):c.788C>T (p.Thr263Met)
|
rs201456938
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.793A>G (p.Lys265Glu)
|
|
|
NM_000388.4(CASR):c.856C>T (p.Arg286Cys)
|
rs1060502843
|
|
NM_000388.4(CASR):c.865A>G (p.Thr289Ala)
|
rs1559959294
|
|
NM_000388.4(CASR):c.866C>A (p.Thr289Lys)
|
|
|
NM_000388.4(CASR):c.86A>G (p.Lys29Arg)
|
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
NM_000388.4(CASR):c.888C>T (p.Ser296=)
|
rs759988398
|
|
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)
|
rs121909259
|
|
NM_000388.4(CASR):c.897G>A (p.Trp299Ter)
|
|
|
NM_000388.4(CASR):c.991C>T (p.Arg331Trp)
|
rs2074632178
|
|
NM_000388.4:c.2628_2629insAlu
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.749C>T (p.Thr250Met)
|
rs876661238
|
|
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter)
|
rs2146300427
|
|
NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu)
|
|
|
NM_000516.7(GNAS):c.1121G>A (p.Arg374His)
|
|
|
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
|
|
|
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
|
|
|
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)
|
|
|
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)
|
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.411G>A (p.Val137=)
|
|
|
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser)
|
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.445_446del (p.His149fs)
|
|
|
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn)
|
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.585+12C>T
|
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.695G>A (p.Arg232His)
|
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.870C>T (p.Phe290=)
|
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000516.7(GNAS):c.970+1G>C
|
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000535.7(PMS2):c.1144+250_2175-1948del
|
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.-119G>A
|
|
|
NM_000545.8(HNF1A):c.-133_-128dup
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.-62C>G
|
|
|
NM_000545.8(HNF1A):c.-64_-55delinsGC
|
|
|
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
|
|
|
NM_000545.8(HNF1A):c.1107+6T>C
|
|
|
NM_000545.8(HNF1A):c.1107+9C>T
|
|
|
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
|
|
|
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.1206C>A (p.Asn402Lys)
|
|
|
NM_000545.8(HNF1A):c.1309+16T>C
|
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met)
|
|
|
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
|
|
|
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
|
|
|
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
|
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg)
|
|
|
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
|
|
|
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met)
|
rs745460046
|
|
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
|
|
|
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
|
|
|
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
|
|
|
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
|
|
|
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
|
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
|
|
|
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1768+5G>A
|
|
|
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
|
|
|
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
|
|
|
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
|
|
|
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser)
|
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
|
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
|
|
|
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
|
|
|
NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)
|
|
|
NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)
|
|
|
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)
|
rs76845985
|
|
NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)
|
|
|
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)
|
rs1555210473
|
|
NM_000545.8(HNF1A):c.354G>A (p.Met118Ile)
|
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
|
|
|
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)
|
rs772214801
|
|
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
|
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)
|
|
|
NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)
|
|
|
NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
|
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
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.845C>A (p.Ala282Asp)
|
|
|
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg)
|
|
|
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
|
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)
|
rs1593058932
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.869C>A (p.Pro290His)
|
rs778231679
|
|
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_000545.8(HNF1A):c.893C>T (p.Ala298Val)
|
|
|
NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)
|
|
|
NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)
|
|
|
NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)
|
|
|
NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)
|
|
|
NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)
|
|
|
NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)
|
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys)
|
rs375444154
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1054G>A (p.Asp352Asn)
|
|
|
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)
|
rs1555524382
|
|
NM_000546.6(TP53):c.1080G>T (p.Gly360=)
|
rs2150994011
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1087_1088inv (p.Arg363Leu)
|
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
NM_000546.6(TP53):c.1104C>G (p.His368Gln)
|
rs1289241865
|
|
NM_000546.6(TP53):c.110C>T (p.Ser37Phe)
|
rs1567557177
|
|
NM_000546.6(TP53):c.1118del (p.Lys373fs)
|
rs2150988776
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1133C>A (p.Ser378Tyr)
|
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)
|
|
|
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)
|
rs878854064
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.183T>A (p.Asp61Glu)
|
rs1597374797
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.251C>T (p.Ala84Val)
|
|
|
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)
|
rs587782148
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.298del (p.Gln100fs)
|
rs1567556006
|
|
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)
|
rs1060501195
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.412G>A (p.Ala138Thr)
|
rs28934875
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.478A>G (p.Met160Val)
|
rs377274728
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.538G>T (p.Glu180Ter)
|
rs879253911
|
|
NM_000546.6(TP53):c.540G>T (p.Glu180Asp)
|
rs2073362479
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)
|
rs866380588
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)
|
rs483352697
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.627A>C (p.Arg209Ser)
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.652del (p.Val218fs)
|
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.661G>T (p.Glu221Ter)
|
rs786201592
|
|
NM_000546.6(TP53):c.670G>A (p.Glu224Lys)
|
rs1555525707
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.676G>A (p.Gly226Ser)
|
rs1597365543
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)
|
rs1064793603
|
|
NM_000546.6(TP53):c.692C>G (p.Thr231Ser)
|
rs1555525564
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.716del (p.Asn239fs)
|
rs1060501197
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_724del (p.Ser241del)
|
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.75-7_82delinsA
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.796G>A (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.800G>T (p.Arg267Leu)
|
rs587780075
|
|
NM_000546.6(TP53):c.808T>C (p.Phe270Leu)
|
rs1057519988
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
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.826G>C (p.Ala276Pro)
|
rs1131691029
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.83A>T (p.Glu28Val)
|
rs786202289
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.875A>C (p.Lys292Thr)
|
rs121912663
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
NM_000546.6(TP53):c.917_919+5delinsAGGA
|
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
NM_000546.6(TP53):c.926C>T (p.Pro309Leu)
|
rs2151012345
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.941C>G (p.Ser314Cys)
|
rs751440465
|
|
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)
|
rs751440465
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_000546.6(TP53):c.993+1G>T
|
rs11575997
|
|
NM_000546.6(TP53):c.993+2T>C
|
rs1597359053
|
|
NM_000546.6(TP53):c.993+32A>T
|
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
NM_000551.4(VHL):c.-10C>T
|
rs1192379474
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup)
|
rs1575921303
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])
|
rs863224839
|
|
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])
|
rs863224839
|
|
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.151G>C (p.Glu51Gln)
|
rs1480825246
|
|
NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)
|
rs786202857
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.225C>G (p.Ile75Met)
|
rs768104793
|
|
NM_000551.4(VHL):c.22T>G (p.Trp8Gly)
|
rs1352171735
|
|
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.26A>T (p.Asp9Val)
|
|
|
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.29A>T (p.Glu10Val)
|
rs786204065
|
|
NM_000551.4(VHL):c.30G>T (p.Glu10Asp)
|
rs963501454
|
|
NM_000551.4(VHL):c.310G>C (p.Gly104Arg)
|
|
|
NM_000551.4(VHL):c.314del (p.Thr105fs)
|
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.32C>G (p.Ala11Gly)
|
|
|
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.464-1G>A
|
rs5030817
|
|
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.512A>G (p.Lys171Arg)
|
rs1696358528
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.533_534del (p.Leu178fs)
|
rs1559429736
|
|
NM_000551.4(VHL):c.546G>T (p.Arg182Ser)
|
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.554A>C (p.Tyr185Ser)
|
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)
|
rs199926195
|
|
NM_000551.4(VHL):c.626A>G (p.Gln209Arg)
|
rs770746627
|
|
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)
|
rs1696118253
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
|
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_000551.4(VHL):c.91G>T (p.Glu31Ter)
|
rs1214275235
|
|
NM_000634.3(CXCR1):c.827G>C (p.Ser276Thr)
|
|
|
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_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)
|
rs2115160662
|
|
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
|
rs1783569729
|
|
NM_000963.4(PTGS2):c.*427T>C
|
|
|
NM_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_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
NM_001007792.1(NTRK1):c.37del (p.Val13fs)
|
rs1451820799
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
NM_001079668.3(NKX2-1):c.463+4A>G
|
rs1881201369
|
|
NM_001079668.3(NKX2-1):c.572G>T (p.Arg191Leu)
|
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
NM_001127511.3(APC):c.-128G>C
|
rs543098847
|
|
NM_001127511.3(APC):c.-142G>A
|
rs951500465
|
|
NM_001127511.3(APC):c.-93G>C
|
|
|
NM_001127511.3(APC):c.9C>T (p.Ala3=)
|
rs1750602563
|
|
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+7012A>G
|
|
|
NM_001365951.3(KIF1B):c.2115+7115C>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7270G>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7306A>G
|
|
|
NM_001365951.3(KIF1B):c.2115+7343G>A
|
|
|
NM_001365951.3(KIF1B):c.2680C>T (p.Pro894Ser)
|
rs1553167706
|
|
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)
|
rs2102315795
|
|
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001365951.3(KIF1B):c.3985G>T (p.Ala1329Ser)
|
|
|
NM_001365951.3(KIF1B):c.430-15C>G
|
|
|
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
|
|
|
NM_001365951.3(KIF1B):c.5271C>A (p.Asp1757Glu)
|
|
|
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
|
|
|
NM_001365951.3(KIF1B):c.877A>G (p.Ser293Gly)
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
NM_001370259.2(MEN1):c.*126C>T
|
rs138595686
|
|
NM_001370259.2(MEN1):c.*245C>T
|
rs1941463518
|
|
NM_001370259.2(MEN1):c.*341C>G
|
rs892949876
|
|
NM_001370259.2(MEN1):c.*373G>C
|
rs886048476
|
|
NM_001370259.2(MEN1):c.*392G>A
|
rs886048475
|
|
NM_001370259.2(MEN1):c.*5C>G
|
|
|
NM_001370259.2(MEN1):c.-20_-14dup
|
|
|
NM_001370259.2(MEN1):c.-23-28_783+50del
|
|
|
NM_001370259.2(MEN1):c.-2C>T
|
rs653534
|
|
NM_001370259.2(MEN1):c.-7_-1dup (p.Met1fs)
|
rs758960344
|
|
NM_001370259.2(MEN1):c.-9C>G
|
|
|
NM_001370259.2(MEN1):c.1000G>A (p.Val334Met)
|
rs1555165027
|
|
NM_001370259.2(MEN1):c.1001T>A (p.Val334Glu)
|
|
|
NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs)
|
rs1114167483
|
|
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs)
|
rs2136119153
|
|
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup)
|
rs1114167529
|
|
NM_001370259.2(MEN1):c.1008A>G (p.Glu336=)
|
|
|
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)
|
rs2071312
|
|
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met)
|
rs771554497
|
|
NM_001370259.2(MEN1):c.100C>T (p.Leu34=)
|
rs771554497
|
|
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)
|
rs2136118998
|
|
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=)
|
|
|
NM_001370259.2(MEN1):c.1013del (p.Leu338fs)
|
rs2136118927
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter)
|
rs1592643178
|
|
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=)
|
|
|
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro)
|
rs2136118718
|
|
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs)
|
rs1941717148
|
|
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly)
|
rs2136118671
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys)
|
|
|
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)
|
rs776561706
|
|
NM_001370259.2(MEN1):c.1024del (p.Ala342fs)
|
rs1555164986
|
|
NM_001370259.2(MEN1):c.1025_1032del (p.Ala342fs)
|
|
|
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=)
|
rs878855184
|
|
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn)
|
rs2136118303
|
|
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu)
|
rs878855185
|
|
NM_001370259.2(MEN1):c.102G>A (p.Leu34=)
|
rs1255708093
|
|
NM_001370259.2(MEN1):c.102G>C (p.Leu34=)
|
rs1255708093
|
|
NM_001370259.2(MEN1):c.102G>T (p.Leu34=)
|
|
|
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=)
|
rs760183888
|
|
NM_001370259.2(MEN1):c.1033G>T (p.Ala345Ser)
|
|
|
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=)
|
|
|
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1037C>G (p.Thr346Ser)
|
|
|
NM_001370259.2(MEN1):c.1039G>A (p.Val347Ile)
|
|
|
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu)
|
|
|
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp)
|
rs1592642971
|
|
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
|
|
|
NM_001370259.2(MEN1):c.1044C>G (p.Ile348Met)
|
|
|
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)
|
rs2136117686
|
|
NM_001370259.2(MEN1):c.1045del (p.Gln349fs)
|
rs2136117722
|
|
NM_001370259.2(MEN1):c.1046A>G (p.Gln349Arg)
|
|
|
NM_001370259.2(MEN1):c.1049+10C>A
|
|
|
NM_001370259.2(MEN1):c.1049+11C>T
|
|
|
NM_001370259.2(MEN1):c.1049+12C>A
|
|
|
NM_001370259.2(MEN1):c.1049+13C>A
|
|
|
NM_001370259.2(MEN1):c.1049+15A>G
|
|
|
NM_001370259.2(MEN1):c.1049+16C>T
|
|
|
NM_001370259.2(MEN1):c.1049+17T>G
|
|
|
NM_001370259.2(MEN1):c.1049+18A>G
|
|
|
NM_001370259.2(MEN1):c.1049+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+1G>C
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+20G>T
|
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.1049+2_1049+3del
|
|
|
NM_001370259.2(MEN1):c.1049+5G>C
|
|
|
NM_001370259.2(MEN1):c.1049+6G>A
|
|
|
NM_001370259.2(MEN1):c.1049+8T>C
|
rs2136117570
|
|
NM_001370259.2(MEN1):c.1049+9C>A
|
rs200517349
|
|
NM_001370259.2(MEN1):c.1049+9C>G
|
rs200517349
|
|
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
|
|
|
NM_001370259.2(MEN1):c.1050-10G>A
|
|
|
NM_001370259.2(MEN1):c.1050-10G>C
|
|
|
NM_001370259.2(MEN1):c.1050-15C>G
|
|
|
NM_001370259.2(MEN1):c.1050-18A>C
|
|
|
NM_001370259.2(MEN1):c.1050-19G>A
|
|
|
NM_001370259.2(MEN1):c.1050-19G>T
|
|
|
NM_001370259.2(MEN1):c.1050-20A>G
|
rs2136111796
|
|
NM_001370259.2(MEN1):c.1050-2A>G
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1050-2A>T
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1050-34_1050-14del
|
|
|
NM_001370259.2(MEN1):c.1050-3C>G
|
|
|
NM_001370259.2(MEN1):c.1050-3C>T
|
rs2136111597
|
|
NM_001370259.2(MEN1):c.1050-7C>T
|
rs1000294408
|
|
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)
|
rs767078097
|
|
NM_001370259.2(MEN1):c.1054_1056del (p.Asn352del)
|
rs2136111453
|
|
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
|
|
|
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=)
|
rs1565642741
|
|
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser)
|
rs1592640870
|
|
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs)
|
rs2136111335
|
|
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=)
|
rs1592640846
|
|
NM_001370259.2(MEN1):c.105G>A (p.Val35=)
|
|
|
NM_001370259.2(MEN1):c.105dup (p.Leu36fs)
|
rs1555166711
|
|
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)
|
rs104894265
|
|
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=)
|
rs104894265
|
|
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)
|
rs1114167474
|
|
NM_001370259.2(MEN1):c.1064G>T (p.Arg355Leu)
|
|
|
NM_001370259.2(MEN1):c.1065G>A (p.Arg355=)
|
|
|
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=)
|
rs1592640719
|
|
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=)
|
rs1592640719
|
|
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn)
|
rs768448073
|
|
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys)
|
rs1941674204
|
|
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)
|
rs1060499971
|
|
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp)
|
|
|
NM_001370259.2(MEN1):c.107T>G (p.Leu36Arg)
|
|
|
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=)
|
rs1168237114
|
|
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu)
|
rs1941672276
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.1088A>G (p.Glu363Gly)
|
|
|
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=)
|
rs2136110455
|
|
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp)
|
|
|
NM_001370259.2(MEN1):c.108C>G (p.Leu36=)
|
rs1592660352
|
|
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
|
|
|
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu)
|
rs863224808
|
|
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu)
|
rs1592640479
|
|
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=)
|
rs1592640464
|
|
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
|
|
|
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
|
|
|
NM_001370259.2(MEN1):c.1099del (p.Glu366_Val367insTer)
|
|
|
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala)
|
rs2136110269
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)
|
rs1555164707
|
|
NM_001370259.2(MEN1):c.1103C>T (p.Ala368Val)
|
|
|
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=)
|
|
|
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser)
|
rs1368034727
|
|
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile)
|
rs1941669758
|
|
NM_001370259.2(MEN1):c.1113C>A (p.Val371=)
|
|
|
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=)
|
rs535417698
|
|
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=)
|
rs535417698
|
|
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
|
|
|
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
|
|
|
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser)
|
rs755168633
|
|
NM_001370259.2(MEN1):c.1123C>A (p.Leu375Met)
|
|
|
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val)
|
rs1211957325
|
|
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln)
|
rs1941668371
|
|
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=)
|
rs867481093
|
|
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=)
|
rs867481093
|
|
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
|
|
|
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg)
|
rs766075737
|
|
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=)
|
rs1555164674
|
|
NM_001370259.2(MEN1):c.1134G>A (p.Glu378=)
|
|
|
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr)
|
rs2136109409
|
|
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs)
|
rs1592640181
|
|
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=)
|
rs2136109300
|
|
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly)
|
rs1565642307
|
|
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1140C>T (p.Ala380=)
|
|
|
NM_001370259.2(MEN1):c.1144T>C (p.Leu382=)
|
rs2136109118
|
|
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=)
|
rs2136109092
|
|
NM_001370259.2(MEN1):c.1148T>C (p.Leu383Pro)
|
|
|
NM_001370259.2(MEN1):c.1149G>A (p.Leu383=)
|
rs1555164667
|
|
NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)
|
|
|
NM_001370259.2(MEN1):c.1153G>T (p.Ala385Ser)
|
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=)
|
rs201091135
|
|
NM_001370259.2(MEN1):c.1156G>A (p.Gly386Ser)
|
rs767595183
|
|
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala)
|
rs761360623
|
|
NM_001370259.2(MEN1):c.1158C>A (p.Gly386=)
|
rs794728653
|
|
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=)
|
rs794728653
|
|
NM_001370259.2(MEN1):c.1158C>T (p.Gly386=)
|
rs794728653
|
|
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)
|
|
|
NM_001370259.2(MEN1):c.1165C>A (p.Arg389=)
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1166_1168dup (p.Arg389_Pro390insArg)
|
|
|
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=)
|
rs1194388602
|
|
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1169dup (p.Glu392fs)
|
|
|
NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)
|
|
|
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=)
|
rs587780841
|
|
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=)
|
rs587780841
|
|
NM_001370259.2(MEN1):c.1171G>A (p.Gly391Arg)
|
|
|
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu)
|
rs998827212
|
|
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=)
|
rs1592639850
|
|
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)
|
rs772588551
|
|
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.117G>A (p.Leu39=)
|
rs2136193601
|
|
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs)
|
rs2136193574
|
|
NM_001370259.2(MEN1):c.1182C>T (p.Ser394=)
|
rs1396452284
|
|
NM_001370259.2(MEN1):c.1183C>T (p.Gln395Ter)
|
rs1941661404
|
|
NM_001370259.2(MEN1):c.1185+10dup
|
rs2136107816
|
|
NM_001370259.2(MEN1):c.1185+11G>A
|
|
|
NM_001370259.2(MEN1):c.1185+12G>C
|
rs373609932
|
|
NM_001370259.2(MEN1):c.1185+13A>G
|
|
|
NM_001370259.2(MEN1):c.1185+15C>G
|
rs2136107680
|
|
NM_001370259.2(MEN1):c.1185+18C>A
|
rs780329058
|
|
NM_001370259.2(MEN1):c.1185+18C>T
|
rs780329058
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1185+3G>A
|
rs1199137996
|
|
NM_001370259.2(MEN1):c.1185+6A>G
|
rs2136107870
|
|
NM_001370259.2(MEN1):c.1185+7G>A
|
|
|
NM_001370259.2(MEN1):c.1185+8G>T
|
|
|
NM_001370259.2(MEN1):c.1185G>C (p.Gln395His)
|
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
NM_001370259.2(MEN1):c.1186-13C>T
|
rs1181170442
|
|
NM_001370259.2(MEN1):c.1186-14T>C
|
|
|
NM_001370259.2(MEN1):c.1186-15T>A
|
rs1482248002
|
|
NM_001370259.2(MEN1):c.1186-16C>T
|
|
|
NM_001370259.2(MEN1):c.1186-20C>T
|
|
|
NM_001370259.2(MEN1):c.1186-4C>T
|
|
|
NM_001370259.2(MEN1):c.1186-5T>C
|
rs1941629779
|
|
NM_001370259.2(MEN1):c.1186-7C>G
|
rs587780842
|
|
NM_001370259.2(MEN1):c.1186-8del
|
rs1555164452
|
|
NM_001370259.2(MEN1):c.1186-9C>T
|
rs1555164455
|
|
NM_001370259.2(MEN1):c.1187G>A (p.Gly396Asp)
|
|
|
NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile)
|
rs1941628720
|
|
NM_001370259.2(MEN1):c.1191C>A (p.Thr397=)
|
|
|
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=)
|
rs1166154585
|
|
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu)
|
rs886039418
|
|
NM_001370259.2(MEN1):c.1192C>T (p.Gln398Ter)
|
rs886039418
|
|
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs)
|
rs1555164430
|
|
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His)
|
rs1592637824
|
|
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly)
|
rs1941626700
|
|
NM_001370259.2(MEN1):c.1196G>A (p.Ser399Asn)
|
|
|
NM_001370259.2(MEN1):c.1196G>C (p.Ser399Thr)
|
|
|
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)
|
rs386134248
|
|
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr)
|
rs1592661250
|
|
NM_001370259.2(MEN1):c.1201G>A (p.Gly401Ser)
|
|
|
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)
|
rs878855186
|
|
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)
|
rs1941625647
|
|
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=)
|
rs878855187
|
|
NM_001370259.2(MEN1):c.1205C>A (p.Ser402Tyr)
|
|
|
NM_001370259.2(MEN1):c.1205C>G (p.Ser402Cys)
|
|
|
NM_001370259.2(MEN1):c.1205C>T (p.Ser402Phe)
|
|
|
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=)
|
rs770037856
|
|
NM_001370259.2(MEN1):c.1206del (p.Ala403fs)
|
rs1941624571
|
|
NM_001370259.2(MEN1):c.120G>T (p.Val40=)
|
rs1306316325
|
|
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe)
|
rs1060499989
|
|
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His)
|
rs1941623255
|
|
NM_001370259.2(MEN1):c.1211T>C (p.Leu404Pro)
|
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
|
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=)
|
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)
|
rs1114167513
|
|
NM_001370259.2(MEN1):c.1216G>A (p.Asp406Asn)
|
|
|
NM_001370259.2(MEN1):c.1216G>C (p.Asp406His)
|
|
|
NM_001370259.2(MEN1):c.1218C>G (p.Asp406Glu)
|
|
|
NM_001370259.2(MEN1):c.1219C>A (p.Pro407Thr)
|
|
|
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)
|
rs1060499985
|
|
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)
|
rs1592637455
|
|
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)
|
rs1592637440
|
|
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter)
|
rs2136102861
|
|
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln)
|
rs1941620661
|
|
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)
|
rs1114167524
|
|
NM_001370259.2(MEN1):c.1226G>T (p.Cys409Phe)
|
|
|
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)
|
|
|
NM_001370259.2(MEN1):c.1228T>G (p.Phe410Val)
|
|
|
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
|
|
|
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
|
|
|
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser)
|
rs757179911
|
|
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
|
|
|
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=)
|
|
|
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr)
|
|
|
NM_001370259.2(MEN1):c.1234del (p.His412fs)
|
|
|
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=)
|
|
|
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)
|
rs1942013583
|
|
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=)
|
rs751481164
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
|
|
|
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)
|
rs1592637081
|
|
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu)
|
rs2071313
|
|
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)
|
|
|
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)
|
rs1941615895
|
|
NM_001370259.2(MEN1):c.1257C>G (p.Gly419=)
|
|
|
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=)
|
|
|
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)
|
rs1565652689
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)
|
|
|
NM_001370259.2(MEN1):c.1266del (p.Lys422fs)
|
rs2136101566
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
|
|
|
NM_001370259.2(MEN1):c.126C>T (p.Gly42=)
|
rs2136193097
|
|
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys)
|
rs1114167477
|
|
NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)
|
|
|
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del)
|
rs2136101303
|
|
NM_001370259.2(MEN1):c.1277_1350+28del
|
rs1941598294
|
|
NM_001370259.2(MEN1):c.1278C>T (p.Gly426=)
|
|
|
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)
|
rs1555164245
|
|
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs)
|
rs2136101131
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
NM_001370259.2(MEN1):c.1282C>G (p.Pro428Ala)
|
|
|
NM_001370259.2(MEN1):c.1282C>T (p.Pro428Ser)
|
|
|
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met)
|
rs757803925
|
|
NM_001370259.2(MEN1):c.1287G>C (p.Thr429=)
|
|
|
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=)
|
rs376598079
|
|
NM_001370259.2(MEN1):c.1289C>A (p.Pro430His)
|
|
|
NM_001370259.2(MEN1):c.1290T>G (p.Pro430=)
|
|
|
NM_001370259.2(MEN1):c.1293G>A (p.Val431=)
|
|
|
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)
|
rs1555164218
|
|
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr)
|
rs1941611706
|
|
NM_001370259.2(MEN1):c.1298_1299delinsGC (p.His433Arg)
|
|
|
NM_001370259.2(MEN1):c.1299_1317del (p.Val434fs)
|
|
|
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu)
|
rs1592660139
|
|
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
|
|
|
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met)
|
rs767854775
|
|
NM_001370259.2(MEN1):c.1302G>A (p.Val434=)
|
|
|
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)
|
rs104894260
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.130G>A (p.Val44Met)
|
|
|
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)
|
rs1555164188
|
|
NM_001370259.2(MEN1):c.1311C>T (p.Ala437=)
|
|
|
NM_001370259.2(MEN1):c.1311del (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1312A>G (p.Thr438Ala)
|
|
|
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser)
|
|
|
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=)
|
rs897481809
|
|
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=)
|
rs897481809
|
|
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs)
|
rs1941607846
|
|
NM_001370259.2(MEN1):c.131T>C (p.Val44Ala)
|
|
|
NM_001370259.2(MEN1):c.1321G>A (p.Val441Met)
|
|
|
NM_001370259.2(MEN1):c.1323G>A (p.Val441=)
|
rs1941607604
|
|
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)
|
rs794728654
|
|
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)
|
rs1060499981
|
|
NM_001370259.2(MEN1):c.1329C>T (p.Ser443=)
|
rs2136100094
|
|
NM_001370259.2(MEN1):c.132G>T (p.Val44=)
|
rs1555166691
|
|
NM_001370259.2(MEN1):c.1330C>G (p.Leu444Val)
|
rs2136100021
|
|
NM_001370259.2(MEN1):c.1330C>T (p.Leu444=)
|
|
|
NM_001370259.2(MEN1):c.1332A>G (p.Leu444=)
|
|
|
NM_001370259.2(MEN1):c.1333G>A (p.Gly445Ser)
|
|
|
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys)
|
rs1555164153
|
|
NM_001370259.2(MEN1):c.1334del (p.Gly445fs)
|
rs1565640081
|
|
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His)
|
rs1555164143
|
|
NM_001370259.2(MEN1):c.1337dup (p.Phe447_Glu448insTer)
|
|
|
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)
|
rs1114167491
|
|
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)
|
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=)
|
rs1325598637
|
|
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu)
|
rs1325598637
|
|
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=)
|
rs371339952
|
|
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp)
|
rs371339952
|
|
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp)
|
|
|
NM_001370259.2(MEN1):c.1345_1346insTGTC (p.Gly449fs)
|
|
|
NM_001370259.2(MEN1):c.1346del (p.Gly449fs)
|
rs1941603016
|
|
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)
|
rs1592660101
|
|
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
|
|
|
NM_001370259.2(MEN1):c.1350+16A>C
|
|
|
NM_001370259.2(MEN1):c.1350+17C>T
|
|
|
NM_001370259.2(MEN1):c.1350+18A>G
|
rs1190733461
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1G>C
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1G>T
|
|
|
NM_001370259.2(MEN1):c.1350+1_1350+11del
|
rs764570645
|
|
NM_001370259.2(MEN1):c.1350+2T>C
|
rs1555164115
|
|
NM_001370259.2(MEN1):c.1350+2T>G
|
|
|
NM_001370259.2(MEN1):c.1350+3G>A
|
|
|
NM_001370259.2(MEN1):c.1350+3_1350+22del
|
|
|
NM_001370259.2(MEN1):c.1350+4_1350+6del
|
rs1565639798
|
|
NM_001370259.2(MEN1):c.1350+5G>A
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350+5G>T
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350+7G>A
|
rs2136099113
|
|
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1351-10A>G
|
rs757569943
|
|
NM_001370259.2(MEN1):c.1351-10A>T
|
|
|
NM_001370259.2(MEN1):c.1351-10del
|
|
|
NM_001370259.2(MEN1):c.1351-11C>G
|
|
|
NM_001370259.2(MEN1):c.1351-12C>T
|
rs2136094913
|
|
NM_001370259.2(MEN1):c.1351-13C>T
|
rs2136094943
|
|
NM_001370259.2(MEN1):c.1351-15T>G
|
rs2136095005
|
|
NM_001370259.2(MEN1):c.1351-16C>T
|
rs766052368
|
|
NM_001370259.2(MEN1):c.1351-18C>G
|
|
|
NM_001370259.2(MEN1):c.1351-1G>A
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>C
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>T
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-24_1351-14del
|
rs753219137
|
|
NM_001370259.2(MEN1):c.1351-2A>C
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2A>G
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2_*132del
|
rs1565634591
|
|
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3]
|
rs753219137
|
|
NM_001370259.2(MEN1):c.1351-3_1359del
|
rs2136094253
|
|
NM_001370259.2(MEN1):c.1351-4_1352del
|
|
|
NM_001370259.2(MEN1):c.1351-6G>A
|
rs1555164004
|
|
NM_001370259.2(MEN1):c.1351-7G>A
|
rs1941572921
|
|
NM_001370259.2(MEN1):c.1351-8T>C
|
rs751932519
|
|
NM_001370259.2(MEN1):c.1351-8T>G
|
rs751932519
|
|
NM_001370259.2(MEN1):c.1351-9C>G
|
rs1592634740
|
|
NM_001370259.2(MEN1):c.1353G>A (p.Val451=)
|
|
|
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=)
|
|
|
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
|
|
|
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)
|
rs775922507
|
|
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=)
|
rs1180957953
|
|
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs)
|
rs2136094331
|
|
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
|
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1361A>C (p.Lys454Thr)
|
|
|
NM_001370259.2(MEN1):c.1362G>A (p.Lys454=)
|
|
|
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met)
|
rs1941570102
|
|
NM_001370259.2(MEN1):c.1363dup (p.Val455fs)
|
|
|
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)
|
rs878855189
|
|
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
|
|
|
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
|
|
|
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)
|
rs372468697
|
|
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu)
|
|
|
NM_001370259.2(MEN1):c.1369A>G (p.Ile457Val)
|
|
|
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu)
|
rs1021589871
|
|
NM_001370259.2(MEN1):c.1370T>C (p.Ile457Thr)
|
|
|
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg)
|
rs1277747983
|
|
NM_001370259.2(MEN1):c.1373T>C (p.Val458Ala)
|
|
|
NM_001370259.2(MEN1):c.1374G>A (p.Val458=)
|
rs771297499
|
|
NM_001370259.2(MEN1):c.1374G>C (p.Val458=)
|
rs771297499
|
|
NM_001370259.2(MEN1):c.1375A>T (p.Ser459Cys)
|
|
|
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)
|
rs1555163883
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=)
|
rs2136093597
|
|
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=)
|
rs104894267
|
|
NM_001370259.2(MEN1):c.1378C>G (p.Arg460Gly)
|
|
|
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)
|
rs200035619
|
|
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)
|
rs2136192730
|
|
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
|
|
|
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
|
|
|
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=)
|
rs2136093385
|
|
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln)
|
rs1941566282
|
|
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)
|
rs1114167531
|
|
NM_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
|
|
|
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)
|
rs1555163780
|
|
NM_001370259.2(MEN1):c.1383G>A (p.Glu461=)
|
rs1592634192
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro)
|
rs1941565557
|
|
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=)
|
rs771827808
|
|
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=)
|
rs771827808
|
|
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)
|
rs748102589
|
|
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
|
|
|
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp)
|
rs1555163863
|
|
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu)
|
|
|
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup)
|
rs1555163821
|
|
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)
|
rs2136092746
|
|
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=)
|
rs754445482
|
|
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del)
|
rs1064792907
|
|
NM_001370259.2(MEN1):c.1393del (p.Ala465fs)
|
rs2136092552
|
|
NM_001370259.2(MEN1):c.1394C>T (p.Ala465Val)
|
|
|
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3])
|
rs1592633710
|
|
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=)
|
rs748820252
|
|
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys)
|
rs1114167497
|
|
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln)
|
|
|
NM_001370259.2(MEN1):c.1397A>G (p.Glu466Gly)
|
|
|
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
|
|
|
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=)
|
rs990566024
|
|
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp)
|
rs990566024
|
|
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
|
|
|
NM_001370259.2(MEN1):c.139_140insA (p.Phe47fs)
|
|
|
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)
|
|
|
NM_001370259.2(MEN1):c.13G>A (p.Ala5Thr)
|
|
|
NM_001370259.2(MEN1):c.1400C>A (p.Ala467Asp)
|
|
|
NM_001370259.2(MEN1):c.1400C>T (p.Ala467Val)
|
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
NM_001370259.2(MEN1):c.1401C>G (p.Ala467=)
|
|
|
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)
|
rs1471493357
|
|
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)
|
rs2136091899
|
|
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys)
|
|
|
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln)
|
rs1182898331
|
|
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala)
|
rs1565638407
|
|
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)
|
rs1114167536
|
|
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del)
|
rs1033303123
|
|
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala)
|
rs1941557896
|
|
NM_001370259.2(MEN1):c.1409_1412dup (p.Trp471fs)
|
|
|
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=)
|
rs1060503795
|
|
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg)
|
rs1941555781
|
|
NM_001370259.2(MEN1):c.1415G>T (p.Gly472Val)
|
|
|
NM_001370259.2(MEN1):c.1415del (p.Gly472fs)
|
|
|
NM_001370259.2(MEN1):c.1417G>A (p.Glu473Lys)
|
|
|
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
|
|
|
NM_001370259.2(MEN1):c.1418del (p.Glu473fs)
|
|
|
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=)
|
rs2136091112
|
|
NM_001370259.2(MEN1):c.1420del (p.Glu474fs)
|
rs1592633378
|
|
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly)
|
rs2136090940
|
|
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly)
|
|
|
NM_001370259.2(MEN1):c.1424C>T (p.Ala475Val)
|
|
|
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del)
|
rs1290740194
|
|
NM_001370259.2(MEN1):c.1426C>G (p.Arg476Gly)
|
|
|
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp)
|
rs1941554063
|
|
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)
|
rs753185026
|
|
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=)
|
rs1555163730
|
|
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=)
|
rs1555163730
|
|
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1429dup (p.Glu477fs)
|
rs886041214
|
|
NM_001370259.2(MEN1):c.142C>T (p.Leu48=)
|
rs2136192593
|
|
NM_001370259.2(MEN1):c.142del (p.Leu48fs)
|
rs1555166681
|
|
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp)
|
rs863224811
|
|
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser)
|
rs1941551993
|
|
NM_001370259.2(MEN1):c.1433G>C (p.Gly478Ala)
|
|
|
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=)
|
rs200280309
|
|
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp)
|
rs1941551498
|
|
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs)
|
rs2136089949
|
|
NM_001370259.2(MEN1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro)
|
rs1555163716
|
|
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=)
|
rs1354865958
|
|
NM_001370259.2(MEN1):c.1437del (p.Arg480fs)
|
rs1941550964
|
|
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp)
|
rs1301120298
|
|
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln)
|
rs1450318836
|
|
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)
|
rs1592660057
|
|
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=)
|
rs864622641
|
|
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser)
|
rs2136089783
|
|
NM_001370259.2(MEN1):c.1445G>A (p.Gly482Asp)
|
|
|
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu)
|
rs1941548759
|
|
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
|
|
|
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
|
|
|
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly)
|
|
|
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp)
|
rs1941548479
|
|
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln)
|
|
|
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=)
|
rs1254459338
|
|
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp)
|
rs1254459338
|
|
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln)
|
rs2136089297
|
|
NM_001370259.2(MEN1):c.1455G>A (p.Arg485=)
|
|
|
NM_001370259.2(MEN1):c.1456G>A (p.Glu486Lys)
|
|
|
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)
|
rs2136089217
|
|
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp)
|
rs1413990417
|
|
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro)
|
rs1057427859
|
|
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr)
|
rs1942011819
|
|
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser)
|
|
|
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe)
|
rs1941546652
|
|
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln)
|
rs1941546101
|
|
NM_001370259.2(MEN1):c.1462A>T (p.Lys488Ter)
|
|
|
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg)
|
rs1941545858
|
|
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=)
|
|
|
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr)
|
rs587778440
|
|
NM_001370259.2(MEN1):c.1466C>T (p.Pro489Leu)
|
|
|
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=)
|
rs1592632826
|
|
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val)
|
rs1555166674
|
|
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
|
|
|
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=)
|
rs1555163642
|
|
NM_001370259.2(MEN1):c.1473G>T (p.Glu491Asp)
|
|
|
NM_001370259.2(MEN1):c.1473del (p.Glu491fs)
|
rs1555163646
|
|
NM_001370259.2(MEN1):c.1474C>T (p.Pro492Ser)
|
|
|
NM_001370259.2(MEN1):c.1475C>G (p.Pro492Arg)
|
|
|
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu)
|
rs1025851127
|
|
NM_001370259.2(MEN1):c.1476C>G (p.Pro492=)
|
rs2136088299
|
|
NM_001370259.2(MEN1):c.1476C>T (p.Pro492=)
|
rs2136088299
|
|
NM_001370259.2(MEN1):c.1477C>T (p.Pro493Ser)
|
rs1941543089
|
|
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
|
|
|
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=)
|
rs546721780
|
|
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser)
|
|
|
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=)
|
rs2136087952
|
|
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg)
|
rs1270463727
|
|
NM_001370259.2(MEN1):c.1489A>C (p.Lys497Gln)
|
|
|
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg)
|
rs1941540571
|
|
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=)
|
rs2136087753
|
|
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=)
|
rs1037335560
|
|
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr)
|
rs761517398
|
|
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=)
|
rs2136087489
|
|
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg)
|
rs1941538934
|
|
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly)
|
rs2136196896
|
|
NM_001370259.2(MEN1):c.14C>T (p.Ala5Val)
|
|
|
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=)
|
|
|
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=)
|
|
|
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
|
|
|
NM_001370259.2(MEN1):c.1502_1513del (p.Asp501_Leu504del)
|
|
|
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu)
|
rs2136087305
|
|
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=)
|
rs2136087305
|
|
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)
|
rs1555163591
|
|
NM_001370259.2(MEN1):c.1506G>A (p.Lys502=)
|
|
|
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys)
|
rs2136087052
|
|
NM_001370259.2(MEN1):c.1508G>T (p.Gly503Val)
|
|
|
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
|
|
|
NM_001370259.2(MEN1):c.150C>T (p.Val50=)
|
rs2136192168
|
|
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val)
|
rs1390530663
|
|
NM_001370259.2(MEN1):c.1512G>A (p.Leu504=)
|
|
|
NM_001370259.2(MEN1):c.1513G>A (p.Gly505Ser)
|
|
|
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1515C>A (p.Gly505=)
|
|
|
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=)
|
rs2136086851
|
|
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile)
|
rs1347992299
|
|
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=)
|
rs749265222
|
|
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=)
|
rs1407833502
|
|
NM_001370259.2(MEN1):c.1521C>T (p.Gly507=)
|
|
|
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)
|
rs386833403
|
|
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser)
|
rs1941533809
|
|
NM_001370259.2(MEN1):c.1525G>T (p.Gly509Cys)
|
|
|
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1526G>C (p.Gly509Ala)
|
|
|
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1527T>G (p.Gly509=)
|
|
|
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val)
|
rs1356056436
|
|
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser)
|
rs1942010838
|
|
NM_001370259.2(MEN1):c.152dup (p.Asn51fs)
|
rs869312167
|
|
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=)
|
rs1941532417
|
|
NM_001370259.2(MEN1):c.1532T>C (p.Val511Ala)
|
|
|
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs)
|
rs1941529928
|
|
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs)
|
rs1941531859
|
|
NM_001370259.2(MEN1):c.1533G>A (p.Val511=)
|
|
|
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)
|
rs794728659
|
|
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)
|
rs141679530
|
|
NM_001370259.2(MEN1):c.1536A>C (p.Ser512=)
|
|
|
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=)
|
rs2136085950
|
|
NM_001370259.2(MEN1):c.1537G>C (p.Gly513Arg)
|
|
|
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)
|
rs1592631908
|
|
NM_001370259.2(MEN1):c.153C>A (p.Asn51Lys)
|
|
|
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys)
|
|
|
NM_001370259.2(MEN1):c.153C>T (p.Asn51=)
|
rs1555166669
|
|
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=)
|
rs1592631827
|
|
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser)
|
rs779466487
|
|
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg)
|
rs1941528728
|
|
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=)
|
rs1555163491
|
|
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)
|
rs763160290
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln)
|
rs1565637104
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)
|
rs794728630
|
|
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser)
|
|
|
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.1550A>G (p.Lys517Arg)
|
|
|
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=)
|
rs2136084986
|
|
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=)
|
|
|
NM_001370259.2(MEN1):c.1555C>T (p.Pro519Ser)
|
|
|
NM_001370259.2(MEN1):c.1556C>T (p.Pro519Leu)
|
|
|
NM_001370259.2(MEN1):c.1556del (p.Pro519fs)
|
rs2136084930
|
|
NM_001370259.2(MEN1):c.155G>A (p.Arg52His)
|
rs1942010221
|
|
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=)
|
rs969035156
|
|
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala)
|
rs1592631462
|
|
NM_001370259.2(MEN1):c.1566C>T (p.Val522=)
|
|
|
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)
|
rs760683615
|
|
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=)
|
rs1592631415
|
|
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=)
|
rs1592631415
|
|
NM_001370259.2(MEN1):c.156C>A (p.Arg52=)
|
rs1592659960
|
|
NM_001370259.2(MEN1):c.156C>T (p.Arg52=)
|
rs1592659960
|
|
NM_001370259.2(MEN1):c.1570G>A (p.Gly524Ser)
|
|
|
NM_001370259.2(MEN1):c.1571G>A (p.Gly524Asp)
|
|
|
NM_001370259.2(MEN1):c.1573A>G (p.Thr525Ala)
|
|
|
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)
|
rs1114167514
|
|
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr)
|
rs1295193195
|
|
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val)
|
|
|
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)
|
rs767655504
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu)
|
rs2136191735
|
|
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp)
|
rs1555163392
|
|
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=)
|
rs1592631208
|
|
NM_001370259.2(MEN1):c.1584C>T (p.Gly528=)
|
|
|
NM_001370259.2(MEN1):c.1588G>A (p.Glu530Lys)
|
|
|
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln)
|
rs762145604
|
|
NM_001370259.2(MEN1):c.1590del (p.Gly531fs)
|
rs886039421
|
|
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser)
|
rs1592631128
|
|
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp)
|
rs1941517219
|
|
NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)
|
|
|
NM_001370259.2(MEN1):c.1597A>G (p.Ser533Gly)
|
|
|
NM_001370259.2(MEN1):c.1599C>T (p.Ser533=)
|
|
|
NM_001370259.2(MEN1):c.159C>A (p.Val53=)
|
rs1411927545
|
|
NM_001370259.2(MEN1):c.159C>T (p.Val53=)
|
rs1411927545
|
|
NM_001370259.2(MEN1):c.15C>A (p.Ala5=)
|
rs757821521
|
|
NM_001370259.2(MEN1):c.15C>T (p.Ala5=)
|
|
|
NM_001370259.2(MEN1):c.1601C>T (p.Thr534Met)
|
rs1192690654
|
|
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=)
|
rs1592631034
|
|
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=)
|
rs1592631034
|
|
NM_001370259.2(MEN1):c.1602G>T (p.Thr534=)
|
rs1592631034
|
|
NM_001370259.2(MEN1):c.1605T>C (p.Ala535=)
|
rs2136083318
|
|
NM_001370259.2(MEN1):c.1606C>G (p.Gln536Glu)
|
|
|
NM_001370259.2(MEN1):c.1607A>T (p.Gln536Leu)
|
|
|
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)
|
rs1057521847
|
|
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu)
|
rs1057521847
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.160del (p.Ile54fs)
|
|
|
NM_001370259.2(MEN1):c.1613C>G (p.Pro538Arg)
|
|
|
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val)
|
|
|
NM_001370259.2(MEN1):c.1617A>T (p.Ala539=)
|
|
|
NM_001370259.2(MEN1):c.1618C>A (p.Pro540Thr)
|
|
|
NM_001370259.2(MEN1):c.1618_1619delinsAT (p.Pro540Ile)
|
|
|
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg)
|
rs780844361
|
|
NM_001370259.2(MEN1):c.1620C>T (p.Pro540=)
|
rs928470958
|
|
NM_001370259.2(MEN1):c.1620_1621delinsAG (p.Thr541Ala)
|
rs2136082604
|
|
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)
|
|
|
NM_001370259.2(MEN1):c.1621A>C (p.Thr541Pro)
|
rs2959656
|
|
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu)
|
rs1941511781
|
|
NM_001370259.2(MEN1):c.1621del (p.Thr541fs)
|
|
|
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val)
|
rs1941511257
|
|
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=)
|
rs2136082421
|
|
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu)
|
rs1592630661
|
|
NM_001370259.2(MEN1):c.162C>G (p.Ile54Met)
|
|
|
NM_001370259.2(MEN1):c.162C>T (p.Ile54=)
|
rs1555166662
|
|
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del)
|
|
|
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)
|
rs1387157979
|
|
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
|
|
|
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup)
|
rs774350463
|
|
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu)
|
rs1592630610
|
|
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser)
|
rs2136082158
|
|
NM_001370259.2(MEN1):c.1637C>A (p.Pro546Gln)
|
|
|
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)
|
rs779413959
|
|
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys)
|
rs1941508162
|
|
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser)
|
|
|
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala)
|
rs914488914
|
|
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=)
|
rs1555163295
|
|
NM_001370259.2(MEN1):c.1642G>A (p.Gly548Ser)
|
|
|
NM_001370259.2(MEN1):c.1642G>T (p.Gly548Cys)
|
|
|
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)
|
|
|
NM_001370259.2(MEN1):c.1643G>T (p.Gly548Val)
|
rs2136081852
|
|
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu)
|
|
|
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=)
|
rs2136081746
|
|
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.164C>T (p.Pro55Leu)
|
|
|
NM_001370259.2(MEN1):c.1650G>A (p.Val550=)
|
rs1592630384
|
|
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe)
|
rs990141724
|
|
NM_001370259.2(MEN1):c.1652T>C (p.Leu551Pro)
|
|
|
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=)
|
rs1592630324
|
|
NM_001370259.2(MEN1):c.1654A>C (p.Thr552Pro)
|
|
|
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.1655C>T (p.Thr552Ile)
|
|
|
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs)
|
rs2136081238
|
|
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr)
|
|
|
NM_001370259.2(MEN1):c.1658T>G (p.Phe553Cys)
|
|
|
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)
|
rs1299138529
|
|
NM_001370259.2(MEN1):c.165T>A (p.Pro55=)
|
rs1060503790
|
|
NM_001370259.2(MEN1):c.165T>C (p.Pro55=)
|
rs1060503790
|
|
NM_001370259.2(MEN1):c.165_166dup (p.Thr56fs)
|
|
|
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)
|
rs794728631
|
|
NM_001370259.2(MEN1):c.1660del (p.Gln554fs)
|
rs2136081113
|
|
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001370259.2(MEN1):c.1666G>A (p.Glu556Lys)
|
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=)
|
rs2136080910
|
|
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met)
|
|
|
NM_001370259.2(MEN1):c.1670del (p.Lys557fs)
|
rs1592630079
|
|
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs)
|
rs1941501683
|
|
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
|
|
|
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile)
|
|
|
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)
|
rs1565635941
|
|
NM_001370259.2(MEN1):c.1676A>G (p.Lys559Arg)
|
|
|
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=)
|
rs2136080688
|
|
NM_001370259.2(MEN1):c.167C>T (p.Thr56Ile)
|
|
|
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)
|
rs1941501393
|
|
NM_001370259.2(MEN1):c.1686G>A (p.Lys562=)
|
rs2136080412
|
|
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=)
|
rs1178628764
|
|
NM_001370259.2(MEN1):c.168del (p.Asn57fs)
|
rs1060499990
|
|
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro)
|
rs2136080204
|
|
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=)
|
rs1251646520
|
|
NM_001370259.2(MEN1):c.1697T>C (p.Val566Ala)
|
|
|
NM_001370259.2(MEN1):c.1698G>A (p.Val566=)
|
rs2136080002
|
|
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)
|
rs1555163185
|
|
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)
|
rs1114167523
|
|
NM_001370259.2(MEN1):c.1702A>G (p.Thr568Ala)
|
|
|
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser)
|
rs751839903
|
|
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu)
|
|
|
NM_001370259.2(MEN1):c.1705_1706del (p.Lys569fs)
|
|
|
NM_001370259.2(MEN1):c.1708_1728del (p.Ile570_Lys576del)
|
rs1555163115
|
|
NM_001370259.2(MEN1):c.170A>G (p.Asn57Ser)
|
|
|
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=)
|
rs1347492310
|
|
NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter)
|
|
|
NM_001370259.2(MEN1):c.1716G>A (p.Ser572=)
|
|
|
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn)
|
rs1257993399
|
|
NM_001370259.2(MEN1):c.1719C>T (p.Ser573=)
|
|
|
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys)
|
rs1171829753
|
|
NM_001370259.2(MEN1):c.171C>T (p.Asn57=)
|
rs1171829753
|
|
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_001370259.2(MEN1):c.1724T>C (p.Ile575Thr)
|
|
|
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met)
|
rs1941495298
|
|
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr)
|
rs1941495030
|
|
NM_001370259.2(MEN1):c.1727A>G (p.Lys576Arg)
|
|
|
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=)
|
rs762744342
|
|
NM_001370259.2(MEN1):c.1730T>A (p.Leu577Gln)
|
|
|
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)
|
rs794728634
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)
|
rs1328296968
|
|
NM_001370259.2(MEN1):c.1737C>A (p.Leu579=)
|
|
|
NM_001370259.2(MEN1):c.1738_1739insAA (p.Thr580fs)
|
|
|
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met)
|
rs1941492703
|
|
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)
|
rs864622617
|
|
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=)
|
rs765105348
|
|
NM_001370259.2(MEN1):c.1752A>G (p.Gln584=)
|
|
|
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.1755G>A (p.Val585=)
|
rs2136078442
|
|
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
|
|
|
NM_001370259.2(MEN1):c.1759A>T (p.Met587Leu)
|
|
|
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.1760T>G (p.Met587Arg)
|
|
|
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile)
|
rs1555163058
|
|
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del)
|
rs1303070443
|
|
NM_001370259.2(MEN1):c.1766A>T (p.Lys589Met)
|
|
|
NM_001370259.2(MEN1):c.1767G>A (p.Lys589=)
|
|
|
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg)
|
rs768445858
|
|
NM_001370259.2(MEN1):c.1770G>A (p.Gln590=)
|
|
|
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His)
|
rs1470506250
|
|
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala)
|
rs1941489030
|
|
NM_001370259.2(MEN1):c.1778C>T (p.Ser593Phe)
|
|
|
NM_001370259.2(MEN1):c.177C>T (p.Pro59=)
|
rs749001511
|
|
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)
|
|
|
NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala)
|
rs1941488490
|
|
NM_001370259.2(MEN1):c.1782C>T (p.Thr594=)
|
|
|
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser)
|
rs2136077722
|
|
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg)
|
rs2136077699
|
|
NM_001370259.2(MEN1):c.1786A>G (p.Ser596Gly)
|
|
|
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr)
|
rs2136077666
|
|
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys)
|
rs1174208039
|
|
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)
|
|
|
NM_001370259.2(MEN1):c.1792T>C (p.Tyr598His)
|
|
|
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)
|
rs2136077605
|
|
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala)
|
rs1941487702
|
|
NM_001370259.2(MEN1):c.1795A>T (p.Thr599Ser)
|
|
|
NM_001370259.2(MEN1):c.1797T>C (p.Thr599=)
|
rs2136077544
|
|
NM_001370259.2(MEN1):c.1798C>T (p.Leu600=)
|
rs2136077489
|
|
NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs)
|
rs1555163017
|
|
NM_001370259.2(MEN1):c.1798_1803del (p.Leu600_Ser601del)
|
|
|
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly)
|
rs1942007547
|
|
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val)
|
|
|
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)
|
|
|
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)
|
|
|
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)
|
|
|
NM_001370259.2(MEN1):c.1800_1803del (p.Phe602fs)
|
|
|
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro)
|
rs1941486843
|
|
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)
|
|
|
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs)
|
rs1941486297
|
|
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=)
|
rs1060503794
|
|
NM_001370259.2(MEN1):c.180G>A (p.Glu60=)
|
rs2136190736
|
|
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)
|
|
|
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly)
|
rs2136077141
|
|
NM_001370259.2(MEN1):c.1813C>T (p.Arg605Trp)
|
|
|
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)
|
|
|
NM_001370259.2(MEN1):c.1819C>A (p.Arg607Ser)
|
|
|
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys)
|
rs770686655
|
|
NM_001370259.2(MEN1):c.181C>T (p.Leu61Phe)
|
|
|
NM_001370259.2(MEN1):c.1820G>A (p.Arg607His)
|
|
|
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=)
|
rs2136076868
|
|
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu)
|
rs2136076826
|
|
NM_001370259.2(MEN1):c.1824A>C (p.Lys608Asn)
|
|
|
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val)
|
rs1186858249
|
|
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe)
|
rs1941484511
|
|
NM_001370259.2(MEN1):c.1830C>G (p.Leu610=)
|
|
|
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)
|
rs1565635212
|
|
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
|
|
|
NM_001370259.2(MEN1):c.183C>A (p.Leu61=)
|
rs1555166622
|
|
NM_001370259.2(MEN1):c.183C>T (p.Leu61=)
|
|
|
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro)
|
rs1555166619
|
|
NM_001370259.2(MEN1):c.185C>A (p.Thr62Asn)
|
|
|
NM_001370259.2(MEN1):c.189C>T (p.Phe63=)
|
rs137880635
|
|
NM_001370259.2(MEN1):c.190C>A (p.Gln64Lys)
|
|
|
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)
|
|
|
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr)
|
rs1235900915
|
|
NM_001370259.2(MEN1):c.193C>G (p.Pro65Ala)
|
|
|
NM_001370259.2(MEN1):c.194C>A (p.Pro65His)
|
rs1114167484
|
|
NM_001370259.2(MEN1):c.195C>A (p.Pro65=)
|
rs1438097332
|
|
NM_001370259.2(MEN1):c.195C>T (p.Pro65=)
|
rs1438097332
|
|
NM_001370259.2(MEN1):c.195del (p.Ser66fs)
|
|
|
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)
|
rs1942005110
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.197G>C (p.Ser66Thr)
|
|
|
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)
|
|
|
NM_001370259.2(MEN1):c.198C>A (p.Ser66Arg)
|
|
|
NM_001370259.2(MEN1):c.198C>T (p.Ser66=)
|
rs2136189969
|
|
NM_001370259.2(MEN1):c.19C>A (p.Gln7Lys)
|
|
|
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)
|
rs1942027113
|
|
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg)
|
rs757766498
|
|
NM_001370259.2(MEN1):c.201C>T (p.Pro67=)
|
rs1060503791
|
|
NM_001370259.2(MEN1):c.201del (p.Ala68fs)
|
rs2136189816
|
|
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr)
|
rs1343345477
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val)
|
rs1319371332
|
|
NM_001370259.2(MEN1):c.204C>A (p.Ala68=)
|
rs2136189673
|
|
NM_001370259.2(MEN1):c.204C>T (p.Ala68=)
|
rs2136189673
|
|
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)
|
rs1060499995
|
|
NM_001370259.2(MEN1):c.207C>A (p.Pro69=)
|
rs2136189522
|
|
NM_001370259.2(MEN1):c.207del (p.Asp70fs)
|
rs1057517902
|
|
NM_001370259.2(MEN1):c.207dup (p.Asp70fs)
|
|
|
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.208_211del (p.Asp70fs)
|
|
|
NM_001370259.2(MEN1):c.209A>G (p.Asp70Gly)
|
|
|
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu)
|
rs150308912
|
|
NM_001370259.2(MEN1):c.210C>T (p.Asp70=)
|
|
|
NM_001370259.2(MEN1):c.211C>G (p.Pro71Ala)
|
|
|
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser)
|
rs1592659522
|
|
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)
|
rs386134251
|
|
NM_001370259.2(MEN1):c.213G>A (p.Pro71=)
|
rs778154183
|
|
NM_001370259.2(MEN1):c.213G>T (p.Pro71=)
|
rs778154183
|
|
NM_001370259.2(MEN1):c.215C>T (p.Pro72Leu)
|
rs878856863
|
|
NM_001370259.2(MEN1):c.216T>G (p.Pro72=)
|
rs1592659467
|
|
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)
|
|
|
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys)
|
|
|
NM_001370259.2(MEN1):c.218G>A (p.Gly73Asp)
|
|
|
NM_001370259.2(MEN1):c.219C>A (p.Gly73=)
|
|
|
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)
|
rs1422628649
|
|
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys)
|
rs2136188922
|
|
NM_001370259.2(MEN1):c.225C>A (p.Leu75=)
|
rs1333791405
|
|
NM_001370259.2(MEN1):c.225C>T (p.Leu75=)
|
rs1333791405
|
|
NM_001370259.2(MEN1):c.226A>T (p.Thr76Ser)
|
rs1592659343
|
|
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn)
|
rs886039752
|
|
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
|
|
|
NM_001370259.2(MEN1):c.228C>G (p.Thr76=)
|
rs1394017906
|
|
NM_001370259.2(MEN1):c.228C>T (p.Thr76=)
|
rs1394017906
|
|
NM_001370259.2(MEN1):c.229T>C (p.Tyr77His)
|
|
|
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu)
|
rs1942026565
|
|
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.233T>C (p.Phe78Ser)
|
|
|
NM_001370259.2(MEN1):c.233T>G (p.Phe78Cys)
|
|
|
NM_001370259.2(MEN1):c.234T>C (p.Phe78=)
|
rs2136188387
|
|
NM_001370259.2(MEN1):c.234del (p.Val80fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala)
|
|
|
NM_001370259.2(MEN1):c.235C>T (p.Pro79Ser)
|
|
|
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.237C>G (p.Pro79=)
|
rs1592659200
|
|
NM_001370259.2(MEN1):c.237C>T (p.Pro79=)
|
rs1592659200
|
|
NM_001370259.2(MEN1):c.237del (p.Val80fs)
|
rs1114167486
|
|
NM_001370259.2(MEN1):c.238G>A (p.Val80Met)
|
|
|
NM_001370259.2(MEN1):c.238del (p.Val80fs)
|
rs2136188216
|
|
NM_001370259.2(MEN1):c.239T>C (p.Val80Ala)
|
|
|
NM_001370259.2(MEN1):c.240G>T (p.Val80=)
|
rs1555166545
|
|
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr)
|
rs2136188110
|
|
NM_001370259.2(MEN1):c.241del (p.Ala81fs)
|
|
|
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
|
|
|
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>C (p.Asp82His)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
|
|
|
NM_001370259.2(MEN1):c.246C>T (p.Asp82=)
|
rs1238113583
|
|
NM_001370259.2(MEN1):c.247C>G (p.Leu83Val)
|
|
|
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu)
|
|
|
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln)
|
rs752747097
|
|
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs)
|
rs2136187161
|
|
NM_001370259.2(MEN1):c.249G>A (p.Leu83=)
|
rs386134252
|
|
NM_001370259.2(MEN1):c.249G>C (p.Leu83=)
|
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
|
|
|
NM_001370259.2(MEN1):c.24G>A (p.Lys8=)
|
rs2136196440
|
|
NM_001370259.2(MEN1):c.252T>C (p.Ser84=)
|
rs1592658989
|
|
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
|
|
|
NM_001370259.2(MEN1):c.253dup (p.Ile85fs)
|
|
|
NM_001370259.2(MEN1):c.256A>G (p.Ile86Val)
|
|
|
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
|
|
|
NM_001370259.2(MEN1):c.259_260delinsTA (p.Ala87Tyr)
|
|
|
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)
|
|
|
NM_001370259.2(MEN1):c.262G>A (p.Ala88Thr)
|
|
|
NM_001370259.2(MEN1):c.263C>A (p.Ala88Asp)
|
|
|
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly)
|
|
|
NM_001370259.2(MEN1):c.264C>T (p.Ala88=)
|
|
|
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe)
|
|
|
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro)
|
rs2136187120
|
|
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del)
|
rs1064792906
|
|
NM_001370259.2(MEN1):c.267C>G (p.Leu89=)
|
rs1060499972
|
|
NM_001370259.2(MEN1):c.267C>T (p.Leu89=)
|
|
|
NM_001370259.2(MEN1):c.269A>C (p.Tyr90Ser)
|
|
|
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys)
|
rs1565651873
|
|
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs)
|
rs1941994887
|
|
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter)
|
rs2136187018
|
|
NM_001370259.2(MEN1):c.26C>T (p.Thr9Met)
|
|
|
NM_001370259.2(MEN1):c.270T>C (p.Tyr90=)
|
|
|
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser)
|
rs2136186838
|
|
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.277T>G (p.Phe93Val)
|
|
|
NM_001370259.2(MEN1):c.27G>A (p.Thr9=)
|
rs1190267704
|
|
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)
|
rs1555166494
|
|
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)
|
rs1565651820
|
|
NM_001370259.2(MEN1):c.282C>T (p.Thr94=)
|
rs760442763
|
|
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)
|
|
|
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser)
|
rs1592658740
|
|
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)
|
|
|
NM_001370259.2(MEN1):c.288G>A (p.Gln96=)
|
rs2136185997
|
|
NM_001370259.2(MEN1):c.28C>G (p.Leu10Val)
|
|
|
NM_001370259.2(MEN1):c.28C>T (p.Leu10=)
|
rs2136196333
|
|
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)
|
rs886039413
|
|
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln)
|
rs1592658694
|
|
NM_001370259.2(MEN1):c.294A>T (p.Arg98=)
|
rs2136185660
|
|
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala)
|
rs1941992512
|
|
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
|
|
|
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser)
|
rs1592658683
|
|
NM_001370259.2(MEN1):c.29T>A (p.Leu10Gln)
|
|
|
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)
|
|
|
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg)
|
rs1942026011
|
|
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)
|
|
|
NM_001370259.2(MEN1):c.300C>T (p.Ala100=)
|
rs773136972
|
|
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile)
|
rs1242887389
|
|
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala)
|
rs771936005
|
|
NM_001370259.2(MEN1):c.303C>G (p.Val101=)
|
rs1463347315
|
|
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)
|
|
|
NM_001370259.2(MEN1):c.307C>T (p.Leu103=)
|
rs1313314117
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln)
|
|
|
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg)
|
rs2136184835
|
|
NM_001370259.2(MEN1):c.30G>C (p.Leu10=)
|
|
|
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe)
|
rs1114167512
|
|
NM_001370259.2(MEN1):c.312C>T (p.Ser104=)
|
rs1592658525
|
|
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs)
|
rs1592658517
|
|
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.313dup (p.Leu105fs)
|
rs2136184555
|
|
NM_001370259.2(MEN1):c.316T>C (p.Tyr106His)
|
|
|
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys)
|
rs1555166469
|
|
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)
|
rs1555166466
|
|
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)
|
rs1060499987
|
|
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
|
|
|
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser)
|
rs1358503577
|
|
NM_001370259.2(MEN1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.321T>C (p.Pro107=)
|
rs2136184097
|
|
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)
|
rs794728647
|
|
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)
|
rs1565651568
|
|
NM_001370259.2(MEN1):c.323del (p.Arg108fs)
|
rs878855191
|
|
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly)
|
rs1555166447
|
|
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp)
|
rs773976527
|
|
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)
|
rs1389398299
|
|
NM_001370259.2(MEN1):c.330G>C (p.Gly110=)
|
rs1060503792
|
|
NM_001370259.2(MEN1):c.331G>A (p.Gly111Ser)
|
|
|
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg)
|
rs1941987221
|
|
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)
|
|
|
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val)
|
rs2136183365
|
|
NM_001370259.2(MEN1):c.332del (p.Gly111fs)
|
|
|
NM_001370259.2(MEN1):c.333T>C (p.Gly111=)
|
rs1555166432
|
|
NM_001370259.2(MEN1):c.336C>T (p.Val112=)
|
rs1200092213
|
|
NM_001370259.2(MEN1):c.338C>T (p.Ser113Phe)
|
rs1941986326
|
|
NM_001370259.2(MEN1):c.33C>A (p.Phe11Leu)
|
|
|
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)
|
|
|
NM_001370259.2(MEN1):c.33C>T (p.Phe11=)
|
|
|
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg)
|
rs2136182944
|
|
NM_001370259.2(MEN1):c.340A>G (p.Ser114Gly)
|
|
|
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)
|
rs886041213
|
|
NM_001370259.2(MEN1):c.342C>T (p.Ser114=)
|
rs2136182809
|
|
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly)
|
rs1565651402
|
|
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
|
|
|
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)
|
rs1060499992
|
|
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln)
|
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
|
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.356A>G (p.Lys119Arg)
|
|
|
NM_001370259.2(MEN1):c.356A>T (p.Lys119Met)
|
|
|
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)
|
rs878855192
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)
|
rs794728614
|
|
NM_001370259.2(MEN1):c.35dup (p.Leu13fs)
|
|
|
NM_001370259.2(MEN1):c.360G>A (p.Lys120=)
|
rs1477714779
|
|
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro)
|
rs1941983276
|
|
NM_001370259.2(MEN1):c.366C>T (p.Ser122=)
|
rs1592658043
|
|
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn)
|
rs1941982745
|
|
NM_001370259.2(MEN1):c.367del (p.Asp123fs)
|
rs1941982919
|
|
NM_001370259.2(MEN1):c.367dup (p.Asp123fs)
|
|
|
NM_001370259.2(MEN1):c.369T>C (p.Asp123=)
|
rs1555166369
|
|
NM_001370259.2(MEN1):c.36G>A (p.Pro12=)
|
rs775721366
|
|
NM_001370259.2(MEN1):c.36G>T (p.Pro12=)
|
rs775721366
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001370259.2(MEN1):c.373A>T (p.Ile125Leu)
|
rs1941982271
|
|
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr)
|
rs1941982084
|
|
NM_001370259.2(MEN1):c.374dup (p.Trp126fs)
|
|
|
NM_001370259.2(MEN1):c.375A>C (p.Ile125=)
|
rs184896922
|
|
NM_001370259.2(MEN1):c.375A>G (p.Ile125Met)
|
|
|
NM_001370259.2(MEN1):c.375_376del (p.Ile125fs)
|
|
|
NM_001370259.2(MEN1):c.376T>C (p.Trp126Arg)
|
rs1592657993
|
|
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)
|
rs2136181049
|
|
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)
|
rs1555166365
|
|
NM_001370259.2(MEN1):c.378G>T (p.Trp126Cys)
|
|
|
NM_001370259.2(MEN1):c.378_389del (p.Trp126_Ser130delinsCys)
|
|
|
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser)
|
rs2136180841
|
|
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys)
|
rs1941981145
|
|
NM_001370259.2(MEN1):c.384C>T (p.Ser128=)
|
|
|
NM_001370259.2(MEN1):c.386del (p.Leu129fs)
|
rs1565651223
|
|
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys)
|
rs2136180487
|
|
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys)
|
rs2136180282
|
|
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.393C>A (p.Arg131=)
|
|
|
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys)
|
rs1555166357
|
|
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=)
|
rs1592657892
|
|
NM_001370259.2(MEN1):c.39_43del (p.Arg14fs)
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402C>G (p.Phe134Leu)
|
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln)
|
rs121913034
|
|
NM_001370259.2(MEN1):c.406G>C (p.Asp136His)
|
rs1941979334
|
|
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
|
rs1592657785
|
|
NM_001370259.2(MEN1):c.407_414del (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.409C>A (p.Arg137=)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.409C>G (p.Arg137Gly)
|
|
|
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys)
|
rs1209178117
|
|
NM_001370259.2(MEN1):c.411G>C (p.Arg137=)
|
rs371437505
|
|
NM_001370259.2(MEN1):c.411G>T (p.Arg137=)
|
rs371437505
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
|
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.416del (p.His139fs)
|
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.417C>T (p.His139=)
|
|
|
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val)
|
|
|
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)
|
rs376510601
|
|
NM_001370259.2(MEN1):c.418dup (p.Ile140fs)
|
|
|
NM_001370259.2(MEN1):c.41G>A (p.Arg14His)
|
|
|
NM_001370259.2(MEN1):c.41G>C (p.Arg14Pro)
|
|
|
NM_001370259.2(MEN1):c.41G>T (p.Arg14Leu)
|
|
|
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)
|
|
|
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
|
|
|
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)
|
rs886039553
|
|
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg)
|
rs758846538
|
|
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)
|
|
|
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val)
|
|
|
NM_001370259.2(MEN1):c.428T>A (p.Leu143His)
|
|
|
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro)
|
rs2136178143
|
|
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
|
|
|
NM_001370259.2(MEN1):c.429C>A (p.Leu143=)
|
|
|
NM_001370259.2(MEN1):c.429C>G (p.Leu143=)
|
|
|
NM_001370259.2(MEN1):c.42C>G (p.Arg14=)
|
rs765446407
|
|
NM_001370259.2(MEN1):c.42C>T (p.Arg14=)
|
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.431T>C (p.Phe144Ser)
|
|
|
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu)
|
rs2136177828
|
|
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
|
|
|
NM_001370259.2(MEN1):c.432del (p.Phe144fs)
|
rs1064793613
|
|
NM_001370259.2(MEN1):c.433A>C (p.Ser145Arg)
|
rs778932605
|
|
NM_001370259.2(MEN1):c.434G>A (p.Ser145Asn)
|
|
|
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr)
|
|
|
NM_001370259.2(MEN1):c.437T>G (p.Phe146Cys)
|
|
|
NM_001370259.2(MEN1):c.439A>G (p.Ile147Val)
|
|
|
NM_001370259.2(MEN1):c.441C>A (p.Ile147=)
|
|
|
NM_001370259.2(MEN1):c.441C>T (p.Ile147=)
|
rs878855193
|
|
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala)
|
rs1114167537
|
|
NM_001370259.2(MEN1):c.442del (p.Thr148fs)
|
rs1941975256
|
|
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
|
|
|
NM_001370259.2(MEN1):c.445+10C>T
|
rs754044830
|
|
NM_001370259.2(MEN1):c.445+1G>A
|
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
NM_001370259.2(MEN1):c.445+3T>C
|
rs2136177528
|
|
NM_001370259.2(MEN1):c.445+4G>A
|
rs1941974933
|
|
NM_001370259.2(MEN1):c.445+5G>A
|
rs1941974766
|
|
NM_001370259.2(MEN1):c.445+7G>A
|
|
|
NM_001370259.2(MEN1):c.445+7G>T
|
rs2136177428
|
|
NM_001370259.2(MEN1):c.445+9C>G
|
rs2136177395
|
|
NM_001370259.2(MEN1):c.446-10C>A
|
rs1442401628
|
|
NM_001370259.2(MEN1):c.446-10C>G
|
|
|
NM_001370259.2(MEN1):c.446-10C>T
|
rs1442401628
|
|
NM_001370259.2(MEN1):c.446-12C>G
|
|
|
NM_001370259.2(MEN1):c.446-12C>T
|
rs369411199
|
|
NM_001370259.2(MEN1):c.446-13C>T
|
|
|
NM_001370259.2(MEN1):c.446-14T>C
|
|
|
NM_001370259.2(MEN1):c.446-17A>G
|
|
|
NM_001370259.2(MEN1):c.446-18T>C
|
rs2136160575
|
|
NM_001370259.2(MEN1):c.446-1G>A
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-1G>C
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-20A>C
|
|
|
NM_001370259.2(MEN1):c.446-2A>C
|
rs886042035
|
|
NM_001370259.2(MEN1):c.446-2A>G
|
rs886042035
|
|
NM_001370259.2(MEN1):c.446-3C>G
|
|
|
NM_001370259.2(MEN1):c.446-3C>T
|
rs377461506
|
|
NM_001370259.2(MEN1):c.446-5C>A
|
|
|
NM_001370259.2(MEN1):c.446-6C>A
|
rs1941875791
|
|
NM_001370259.2(MEN1):c.446-7T>C
|
rs2136160148
|
|
NM_001370259.2(MEN1):c.446-9C>A
|
rs1371109251
|
|
NM_001370259.2(MEN1):c.446-9C>G
|
rs1371109251
|
|
NM_001370259.2(MEN1):c.446-9C>T
|
|
|
NM_001370259.2(MEN1):c.446G>T (p.Gly149Val)
|
rs1444210255
|
|
NM_001370259.2(MEN1):c.447C>T (p.Gly149=)
|
|
|
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
|
|
|
NM_001370259.2(MEN1):c.450del (p.Lys151fs)
|
|
|
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu)
|
rs2136159555
|
|
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg)
|
rs2136159495
|
|
NM_001370259.2(MEN1):c.454T>C (p.Leu152=)
|
|
|
NM_001370259.2(MEN1):c.455T>G (p.Leu152Trp)
|
|
|
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.459C>T (p.Asp153=)
|
|
|
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
|
|
|
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile)
|
rs1941873896
|
|
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe)
|
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)
|
rs794728648
|
|
NM_001370259.2(MEN1):c.469G>A (p.Val157Met)
|
rs1555165872
|
|
NM_001370259.2(MEN1):c.46A>T (p.Ile16Phe)
|
|
|
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr)
|
rs1421808873
|
|
NM_001370259.2(MEN1):c.472G>C (p.Ala158Pro)
|
|
|
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)
|
rs794728617
|
|
NM_001370259.2(MEN1):c.474del (p.Phe159fs)
|
rs2136158237
|
|
NM_001370259.2(MEN1):c.477T>C (p.Phe159=)
|
|
|
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu)
|
rs1941871397
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.47T>C (p.Ile16Thr)
|
|
|
NM_001370259.2(MEN1):c.480T>C (p.Ala160=)
|
rs2136157794
|
|
NM_001370259.2(MEN1):c.481G>A (p.Val161Met)
|
rs1268563474
|
|
NM_001370259.2(MEN1):c.483G>A (p.Val161=)
|
|
|
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile)
|
rs2136157511
|
|
NM_001370259.2(MEN1):c.489G>A (p.Gly163=)
|
rs2136157212
|
|
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser)
|
rs1311408888
|
|
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)
|
rs1565648547
|
|
NM_001370259.2(MEN1):c.492del (p.Cys165fs)
|
|
|
NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)
|
|
|
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)
|
rs1057521111
|
|
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)
|
rs1592651767
|
|
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro)
|
|
|
NM_001370259.2(MEN1):c.498G>A (p.Gln166=)
|
|
|
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
|
|
|
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr)
|
|
|
NM_001370259.2(MEN1):c.4G>A (p.Gly2Arg)
|
|
|
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val)
|
rs1555165846
|
|
NM_001370259.2(MEN1):c.502C>T (p.Leu168=)
|
rs1555165846
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.504G>A (p.Leu168=)
|
rs1941867763
|
|
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs)
|
rs2136156268
|
|
NM_001370259.2(MEN1):c.506del (p.Gly169fs)
|
|
|
NM_001370259.2(MEN1):c.507T>G (p.Gly169=)
|
|
|
NM_001370259.2(MEN1):c.508C>G (p.Leu170Val)
|
|
|
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro)
|
rs1941866849
|
|
NM_001370259.2(MEN1):c.510C>T (p.Leu170=)
|
|
|
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly)
|
rs143329068
|
|
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro)
|
rs607969
|
|
NM_001370259.2(MEN1):c.514G>C (p.Asp172His)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.516T>C (p.Asp172=)
|
rs912509147
|
|
NM_001370259.2(MEN1):c.519C>G (p.Val173=)
|
|
|
NM_001370259.2(MEN1):c.51C>T (p.Asp17=)
|
rs2136195633
|
|
NM_001370259.2(MEN1):c.520C>T (p.His174Tyr)
|
|
|
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs)
|
rs1941864588
|
|
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.526del (p.Ala176fs)
|
|
|
NM_001370259.2(MEN1):c.528C>A (p.Ala176=)
|
rs1311592330
|
|
NM_001370259.2(MEN1):c.528C>G (p.Ala176=)
|
rs1311592330
|
|
NM_001370259.2(MEN1):c.529C>G (p.Leu177Val)
|
rs865919253
|
|
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr)
|
rs2136195598
|
|
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)
|
rs2136154828
|
|
NM_001370259.2(MEN1):c.531G>C (p.Leu177=)
|
|
|
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter)
|
rs2136154587
|
|
NM_001370259.2(MEN1):c.535G>A (p.Glu179Lys)
|
rs1064793167
|
|
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)
|
rs1555165811
|
|
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr)
|
rs1555165809
|
|
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr)
|
rs2136154322
|
|
NM_001370259.2(MEN1):c.540T>A (p.Asp180Glu)
|
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro)
|
|
|
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)
|
rs794728650
|
|
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)
|
|
|
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)
|
rs2136153753
|
|
NM_001370259.2(MEN1):c.54C>A (p.Asp18Glu)
|
|
|
NM_001370259.2(MEN1):c.54C>T (p.Asp18=)
|
rs1316973259
|
|
NM_001370259.2(MEN1):c.550G>A (p.Val184Ile)
|
|
|
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)
|
rs104894262
|
|
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu)
|
rs1265797059
|
|
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala)
|
rs764847812
|
|
NM_001370259.2(MEN1):c.555G>T (p.Val185=)
|
rs1178007625
|
|
NM_001370259.2(MEN1):c.556T>C (p.Phe186Leu)
|
|
|
NM_001370259.2(MEN1):c.55G>A (p.Val19Met)
|
|
|
NM_001370259.2(MEN1):c.55G>C (p.Val19Leu)
|
|
|
NM_001370259.2(MEN1):c.560G>C (p.Gly187Ala)
|
|
|
NM_001370259.2(MEN1):c.561G>A (p.Gly187=)
|
|
|
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)
|
rs1555165756
|
|
NM_001370259.2(MEN1):c.564del (p.Asn189fs)
|
|
|
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys)
|
rs1212919060
|
|
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu)
|
rs878855195
|
|
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp)
|
rs1592651018
|
|
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)
|
|
|
NM_001370259.2(MEN1):c.576G>C (p.Gln192His)
|
|
|
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
|
|
|
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578dup (p.Ala194fs)
|
|
|
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
|
|
|
NM_001370259.2(MEN1):c.57G>A (p.Val19=)
|
rs759282395
|
|
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly)
|
rs2136152165
|
|
NM_001370259.2(MEN1):c.582T>A (p.Ala194=)
|
rs1592650942
|
|
NM_001370259.2(MEN1):c.582T>G (p.Ala194=)
|
rs1592650942
|
|
NM_001370259.2(MEN1):c.584_586del (p.Glu195del)
|
rs2136151782
|
|
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)
|
|
|
NM_001370259.2(MEN1):c.585G>A (p.Glu195=)
|
rs864622177
|
|
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile)
|
rs2136151708
|
|
NM_001370259.2(MEN1):c.588C>T (p.Val196=)
|
rs1592650906
|
|
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu)
|
rs1942022491
|
|
NM_001370259.2(MEN1):c.590C>A (p.Thr197Asn)
|
|
|
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile)
|
rs1592650893
|
|
NM_001370259.2(MEN1):c.591C>G (p.Thr197=)
|
rs527294715
|
|
NM_001370259.2(MEN1):c.591C>T (p.Thr197=)
|
rs527294715
|
|
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)
|
rs104894258
|
|
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)
|
rs104894257
|
|
NM_001370259.2(MEN1):c.595C>T (p.His199Tyr)
|
|
|
NM_001370259.2(MEN1):c.597C>A (p.His199Gln)
|
rs150512958
|
|
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser)
|
rs1592650813
|
|
NM_001370259.2(MEN1):c.599G>A (p.Gly200Asp)
|
|
|
NM_001370259.2(MEN1):c.59T>G (p.Val20Gly)
|
|
|
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu)
|
rs1592661296
|
|
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu)
|
|
|
NM_001370259.2(MEN1):c.603G>A (p.Lys201=)
|
|
|
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp)
|
rs1941854779
|
|
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
|
|
|
NM_001370259.2(MEN1):c.606C>A (p.Gly202=)
|
|
|
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys)
|
rs749844029
|
|
NM_001370259.2(MEN1):c.60G>A (p.Val20=)
|
|
|
NM_001370259.2(MEN1):c.60G>C (p.Val20=)
|
rs776432516
|
|
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp)
|
|
|
NM_001370259.2(MEN1):c.615C>T (p.Asp205=)
|
rs1941854403
|
|
NM_001370259.2(MEN1):c.617G>A (p.Arg206His)
|
rs1565647825
|
|
NM_001370259.2(MEN1):c.617G>C (p.Arg206Pro)
|
|
|
NM_001370259.2(MEN1):c.617G>T (p.Arg206Leu)
|
|
|
NM_001370259.2(MEN1):c.618C>T (p.Arg206=)
|
rs1555165717
|
|
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly)
|
rs1941853632
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.623_1050-143del
|
|
|
NM_001370259.2(MEN1):c.624_627dup (p.Thr210fs)
|
|
|
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)
|
rs1565647767
|
|
NM_001370259.2(MEN1):c.625del (p.Gln209fs)
|
rs1114167538
|
|
NM_001370259.2(MEN1):c.627G>A (p.Gln209=)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.627G>C (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.627G>T (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.628A>C (p.Thr210Pro)
|
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.62G>A (p.Arg21His)
|
|
|
NM_001370259.2(MEN1):c.630A>C (p.Thr210=)
|
rs1592650685
|
|
NM_001370259.2(MEN1):c.630A>G (p.Thr210=)
|
|
|
NM_001370259.2(MEN1):c.631_634del (p.Val211fs)
|
rs1941851693
|
|
NM_001370259.2(MEN1):c.632T>A (p.Val211Asp)
|
|
|
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly)
|
rs1565647698
|
|
NM_001370259.2(MEN1):c.633del (p.Asn212fs)
|
rs878855196
|
|
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp)
|
rs1060499980
|
|
NM_001370259.2(MEN1):c.636T>C (p.Asn212=)
|
|
|
NM_001370259.2(MEN1):c.636T>G (p.Asn212Lys)
|
|
|
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr)
|
|
|
NM_001370259.2(MEN1):c.637G>C (p.Ala213Pro)
|
|
|
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
|
|
|
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)
|
rs1114167518
|
|
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)
|
rs746067825
|
|
NM_001370259.2(MEN1):c.639del (p.Gly214fs)
|
rs1941850919
|
|
NM_001370259.2(MEN1):c.63C>T (p.Arg21=)
|
rs1018289242
|
|
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys)
|
rs781493730
|
|
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala)
|
rs2136148915
|
|
NM_001370259.2(MEN1):c.641G>T (p.Gly214Val)
|
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)
|
|
|
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)
|
rs386134257
|
|
NM_001370259.2(MEN1):c.645G>A (p.Val215=)
|
rs1347044526
|
|
NM_001370259.2(MEN1):c.646G>A (p.Ala216Thr)
|
|
|
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro)
|
rs1592650523
|
|
NM_001370259.2(MEN1):c.646del (p.Ala216fs)
|
rs2136148702
|
|
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val)
|
rs2136148590
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
|
|
|
NM_001370259.2(MEN1):c.64C>T (p.Leu22=)
|
rs1592660695
|
|
NM_001370259.2(MEN1):c.652C>A (p.Arg218=)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.654+10C>A
|
rs921850475
|
|
NM_001370259.2(MEN1):c.654+10C>T
|
rs921850475
|
|
NM_001370259.2(MEN1):c.654+11C>T
|
rs1941846380
|
|
NM_001370259.2(MEN1):c.654+12T>A
|
|
|
NM_001370259.2(MEN1):c.654+13C>A
|
|
|
NM_001370259.2(MEN1):c.654+14C>T
|
|
|
NM_001370259.2(MEN1):c.654+15C>G
|
rs1262314762
|
|
NM_001370259.2(MEN1):c.654+15C>T
|
|
|
NM_001370259.2(MEN1):c.654+16C>A
|
rs2136147604
|
|
NM_001370259.2(MEN1):c.654+17C>A
|
|
|
NM_001370259.2(MEN1):c.654+17C>G
|
rs764070489
|
|
NM_001370259.2(MEN1):c.654+17C>T
|
|
|
NM_001370259.2(MEN1):c.654+18C>A
|
|
|
NM_001370259.2(MEN1):c.654+18C>G
|
rs180737290
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
NM_001370259.2(MEN1):c.654+18del
|
rs112700230
|
|
NM_001370259.2(MEN1):c.654+18dup
|
rs112700230
|
|
NM_001370259.2(MEN1):c.654+1G>A
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1del
|
rs1057518903
|
|
NM_001370259.2(MEN1):c.654+3A>G
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.654+4T>C
|
rs1941847622
|
|
NM_001370259.2(MEN1):c.654+6G>T
|
rs1941847253
|
|
NM_001370259.2(MEN1):c.654+9C>A
|
rs202134234
|
|
NM_001370259.2(MEN1):c.654+9C>G
|
rs202134234
|
|
NM_001370259.2(MEN1):c.654G>A (p.Arg218=)
|
|
|
NM_001370259.2(MEN1):c.654G>C (p.Arg218=)
|
|
|
NM_001370259.2(MEN1):c.655-10C>T
|
rs2136144068
|
|
NM_001370259.2(MEN1):c.655-11C>G
|
rs781234614
|
|
NM_001370259.2(MEN1):c.655-11C>T
|
rs781234614
|
|
NM_001370259.2(MEN1):c.655-12T>C
|
rs2136144144
|
|
NM_001370259.2(MEN1):c.655-12dup
|
rs2136144164
|
|
NM_001370259.2(MEN1):c.655-13A>C
|
|
|
NM_001370259.2(MEN1):c.655-15_658del
|
rs1592649598
|
|
NM_001370259.2(MEN1):c.655-16C>A
|
|
|
NM_001370259.2(MEN1):c.655-16C>G
|
|
|
NM_001370259.2(MEN1):c.655-17T>A
|
|
|
NM_001370259.2(MEN1):c.655-17T>C
|
|
|
NM_001370259.2(MEN1):c.655-19G>A
|
|
|
NM_001370259.2(MEN1):c.655-19_655-17del
|
rs2136144272
|
|
NM_001370259.2(MEN1):c.655-1G>A
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-20T>C
|
|
|
NM_001370259.2(MEN1):c.655-2A>G
|
|
|
NM_001370259.2(MEN1):c.655-4T>C
|
|
|
NM_001370259.2(MEN1):c.655-5C>A
|
rs752563214
|
|
NM_001370259.2(MEN1):c.655-5C>T
|
rs752563214
|
|
NM_001370259.2(MEN1):c.655-5del
|
rs772016629
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6_655-4del
|
rs1555165623
|
|
NM_001370259.2(MEN1):c.655-7C>A
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7C>G
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7C>T
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7_655-4dup
|
rs2136143779
|
|
NM_001370259.2(MEN1):c.655-8C>T
|
rs2136143989
|
|
NM_001370259.2(MEN1):c.655-9C>A
|
rs2136144016
|
|
NM_001370259.2(MEN1):c.655-9C>T
|
|
|
NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)
|
|
|
NM_001370259.2(MEN1):c.656G>A (p.Ser219Asn)
|
|
|
NM_001370259.2(MEN1):c.657C>T (p.Ser219=)
|
rs2059889716
|
|
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)
|
rs1565647197
|
|
NM_001370259.2(MEN1):c.659G>C (p.Trp220Ser)
|
|
|
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)
|
rs2136143369
|
|
NM_001370259.2(MEN1):c.663G>A (p.Leu221=)
|
|
|
NM_001370259.2(MEN1):c.663G>C (p.Leu221=)
|
rs1466764986
|
|
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp)
|
rs1941830592
|
|
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser)
|
rs1555165601
|
|
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=)
|
rs1555165597
|
|
NM_001370259.2(MEN1):c.667C>T (p.Leu223=)
|
rs1592649487
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.668T>G (p.Leu223Arg)
|
|
|
NM_001370259.2(MEN1):c.669G>A (p.Leu223=)
|
rs2136143050
|
|
NM_001370259.2(MEN1):c.66G>C (p.Leu22=)
|
|
|
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)
|
rs1057521110
|
|
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
|
|
|
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala)
|
|
|
NM_001370259.2(MEN1):c.677C>T (p.Ser226Leu)
|
|
|
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)
|
rs778921501
|
|
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)
|
rs1060499982
|
|
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)
|
rs1114167519
|
|
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser)
|
rs754378887
|
|
NM_001370259.2(MEN1):c.685del (p.Arg229fs)
|
|
|
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)
|
rs878855197
|
|
NM_001370259.2(MEN1):c.689G>A (p.Cys230Tyr)
|
|
|
NM_001370259.2(MEN1):c.690T>C (p.Cys230=)
|
rs2136142487
|
|
NM_001370259.2(MEN1):c.691G>C (p.Asp231His)
|
rs1941827572
|
|
NM_001370259.2(MEN1):c.692A>G (p.Asp231Gly)
|
|
|
NM_001370259.2(MEN1):c.693C>T (p.Asp231=)
|
|
|
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)
|
rs1225847249
|
|
NM_001370259.2(MEN1):c.695G>A (p.Arg232His)
|
rs1941826992
|
|
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln)
|
|
|
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)
|
rs1114167499
|
|
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr)
|
rs1592649270
|
|
NM_001370259.2(MEN1):c.698A>G (p.Lys233Arg)
|
|
|
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.6dup (p.Leu3fs)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.700A>G (p.Met234Val)
|
|
|
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu)
|
rs1296948476
|
|
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile)
|
rs1448041546
|
|
NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys)
|
rs1114167488
|
|
NM_001370259.2(MEN1):c.706G>A (p.Val236Met)
|
|
|
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu)
|
|
|
NM_001370259.2(MEN1):c.707T>C (p.Val236Ala)
|
|
|
NM_001370259.2(MEN1):c.715A>G (p.Met239Val)
|
|
|
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr)
|
rs1441995061
|
|
NM_001370259.2(MEN1):c.717G>A (p.Met239Ile)
|
|
|
NM_001370259.2(MEN1):c.718G>A (p.Val240Met)
|
|
|
NM_001370259.2(MEN1):c.719T>C (p.Val240Ala)
|
|
|
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)
|
rs1328062930
|
|
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
|
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.721T>G (p.Cys241Gly)
|
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
NM_001370259.2(MEN1):c.731A>C (p.Asn244Thr)
|
|
|
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala)
|
rs1373521153
|
|
NM_001370259.2(MEN1):c.734del (p.Pro245fs)
|
rs1565646772
|
|
NM_001370259.2(MEN1):c.737C>A (p.Ser246Tyr)
|
|
|
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val)
|
rs1555165508
|
|
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)
|
rs1555165503
|
|
NM_001370259.2(MEN1):c.739dup (p.Ile247fs)
|
rs2136141104
|
|
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr)
|
rs1043531053
|
|
NM_001370259.2(MEN1):c.741T>C (p.Ile247=)
|
rs1592648877
|
|
NM_001370259.2(MEN1):c.742del (p.Asp248fs)
|
|
|
NM_001370259.2(MEN1):c.744C>T (p.Asp248=)
|
rs2136140889
|
|
NM_001370259.2(MEN1):c.745C>A (p.Leu249Met)
|
rs2136140837
|
|
NM_001370259.2(MEN1):c.745_754del (p.Leu249fs)
|
|
|
NM_001370259.2(MEN1):c.745del (p.Leu249fs)
|
|
|
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln)
|
rs1824195184
|
|
NM_001370259.2(MEN1):c.746T>C (p.Leu249Pro)
|
|
|
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)
|
rs1592648830
|
|
NM_001370259.2(MEN1):c.750C>T (p.His250=)
|
|
|
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
|
|
|
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
|
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758del (p.Ser253fs)
|
rs1592648765
|
|
NM_001370259.2(MEN1):c.759G>C (p.Ser253=)
|
|
|
NM_001370259.2(MEN1):c.759G>T (p.Ser253=)
|
rs201829546
|
|
NM_001370259.2(MEN1):c.75C>A (p.Ala25=)
|
|
|
NM_001370259.2(MEN1):c.75C>G (p.Ala25=)
|
|
|
NM_001370259.2(MEN1):c.75C>T (p.Ala25=)
|
rs1399788808
|
|
NM_001370259.2(MEN1):c.760C>A (p.Leu254Met)
|
|
|
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro)
|
|
|
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)
|
rs1555165488
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.766C>G (p.Leu256Val)
|
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
|
|
|
NM_001370259.2(MEN1):c.769C>T (p.Leu257=)
|
|
|
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)
|
rs28931612
|
|
NM_001370259.2(MEN1):c.770T>C (p.Leu257Pro)
|
|
|
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3])
|
rs1555165485
|
|
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)
|
|
|
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg)
|
|
|
NM_001370259.2(MEN1):c.777G>A (p.Leu259=)
|
rs2136139885
|
|
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)
|
rs1057520733
|
|
NM_001370259.2(MEN1):c.783+10G>C
|
rs2136139524
|
|
NM_001370259.2(MEN1):c.783+16A>G
|
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>C
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+2del
|
|
|
NM_001370259.2(MEN1):c.783+3G>A
|
|
|
NM_001370259.2(MEN1):c.783+5G>T
|
rs1592648530
|
|
NM_001370259.2(MEN1):c.783+6G>C
|
|
|
NM_001370259.2(MEN1):c.783+8C>A
|
rs2136139552
|
|
NM_001370259.2(MEN1):c.784-10C>A
|
rs71526470
|
|
NM_001370259.2(MEN1):c.784-14C>T
|
|
|
NM_001370259.2(MEN1):c.784-16C>G
|
rs754257177
|
|
NM_001370259.2(MEN1):c.784-17_784-14del
|
|
|
NM_001370259.2(MEN1):c.784-18C>G
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001370259.2(MEN1):c.784-1G>A
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-1G>C
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-20C>G
|
|
|
NM_001370259.2(MEN1):c.784-20C>T
|
|
|
NM_001370259.2(MEN1):c.784-2A>T
|
|
|
NM_001370259.2(MEN1):c.784-4C>T
|
|
|
NM_001370259.2(MEN1):c.784-7C>A
|
|
|
NM_001370259.2(MEN1):c.784-7C>G
|
rs1313431495
|
|
NM_001370259.2(MEN1):c.784-8G>C
|
|
|
NM_001370259.2(MEN1):c.784-8G>T
|
rs766553550
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.784-9G>C
|
rs794728625
|
|
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg)
|
rs1555165373
|
|
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
|
|
|
NM_001370259.2(MEN1):c.786del (p.Lys262fs)
|
|
|
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)
|
rs1114167502
|
|
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)
|
rs1941794175
|
|
NM_001370259.2(MEN1):c.792C>G (p.Leu264=)
|
rs2136134213
|
|
NM_001370259.2(MEN1):c.792C>T (p.Leu264=)
|
rs2136134213
|
|
NM_001370259.2(MEN1):c.792del (p.Trp265fs)
|
|
|
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)
|
rs2136134076
|
|
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)
|
rs1592647398
|
|
NM_001370259.2(MEN1):c.796C>G (p.Leu266Val)
|
|
|
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
|
|
|
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val)
|
rs1006536599
|
|
NM_001370259.2(MEN1):c.79C>T (p.Leu27=)
|
rs1006536599
|
|
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn)
|
rs878855199
|
|
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly)
|
rs1941793463
|
|
NM_001370259.2(MEN1):c.806A>T (p.Asp269Val)
|
|
|
NM_001370259.2(MEN1):c.807C>T (p.Asp269=)
|
rs2136133470
|
|
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met)
|
rs371556177
|
|
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)
|
rs1592647333
|
|
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg)
|
rs1565645918
|
|
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg)
|
|
|
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala)
|
rs1941792670
|
|
NM_001370259.2(MEN1):c.815A>G (p.His272Arg)
|
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001370259.2(MEN1):c.819G>A (p.Leu273=)
|
|
|
NM_001370259.2(MEN1):c.819G>T (p.Leu273=)
|
rs748369241
|
|
NM_001370259.2(MEN1):c.81G>C (p.Leu27=)
|
rs1592660553
|
|
NM_001370259.2(MEN1):c.81G>T (p.Leu27=)
|
|
|
NM_001370259.2(MEN1):c.820G>A (p.Glu274Lys)
|
rs1941791593
|
|
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)
|
rs1592647235
|
|
NM_001370259.2(MEN1):c.823del (p.Arg275fs)
|
rs1555165360
|
|
NM_001370259.2(MEN1):c.824+10G>A
|
|
|
NM_001370259.2(MEN1):c.824+12del
|
rs2136132270
|
|
NM_001370259.2(MEN1):c.824+16T>A
|
|
|
NM_001370259.2(MEN1):c.824+17G>C
|
rs1271023864
|
|
NM_001370259.2(MEN1):c.824+18G>A
|
|
|
NM_001370259.2(MEN1):c.824+1G>A
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824+1G>T
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824+2T>C
|
|
|
NM_001370259.2(MEN1):c.824+3C>G
|
rs1941790535
|
|
NM_001370259.2(MEN1):c.824+5G>C
|
|
|
NM_001370259.2(MEN1):c.824+8G>T
|
rs2136132354
|
|
NM_001370259.2(MEN1):c.824+9A>C
|
|
|
NM_001370259.2(MEN1):c.824+9A>G
|
rs774166628
|
|
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)
|
rs1187634059
|
|
NM_001370259.2(MEN1):c.825-10C>G
|
rs999121619
|
|
NM_001370259.2(MEN1):c.825-10C>T
|
|
|
NM_001370259.2(MEN1):c.825-13G>A
|
|
|
NM_001370259.2(MEN1):c.825-13_825-11del
|
|
|
NM_001370259.2(MEN1):c.825-1_825del
|
rs2136130282
|
|
NM_001370259.2(MEN1):c.825-4C>A
|
rs2136130374
|
|
NM_001370259.2(MEN1):c.825-8T>C
|
rs1555165330
|
|
NM_001370259.2(MEN1):c.825-9C>A
|
rs1460138191
|
|
NM_001370259.2(MEN1):c.825G>A (p.Arg275=)
|
|
|
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys)
|
rs1555165327
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal)
|
rs2136130018
|
|
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn)
|
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
|
|
|
NM_001370259.2(MEN1):c.831del (p.Met278fs)
|
rs2136129908
|
|
NM_001370259.2(MEN1):c.832A>G (p.Met278Val)
|
rs1475401656
|
|
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg)
|
rs1592646765
|
|
NM_001370259.2(MEN1):c.837C>A (p.Ala279=)
|
|
|
NM_001370259.2(MEN1):c.837C>T (p.Ala279=)
|
rs762092675
|
|
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)
|
|
|
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)
|
|
|
NM_001370259.2(MEN1):c.840A>T (p.Leu280Phe)
|
|
|
NM_001370259.2(MEN1):c.842G>A (p.Gly281Glu)
|
|
|
NM_001370259.2(MEN1):c.843G>A (p.Gly281=)
|
|
|
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser)
|
rs1592646672
|
|
NM_001370259.2(MEN1):c.846C>T (p.Asn282=)
|
rs2136129516
|
|
NM_001370259.2(MEN1):c.849G>T (p.Leu283=)
|
rs1592646641
|
|
NM_001370259.2(MEN1):c.84C>T (p.Gly28=)
|
rs2136194730
|
|
NM_001370259.2(MEN1):c.850G>A (p.Ala284Thr)
|
|
|
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)
|
rs1565645563
|
|
NM_001370259.2(MEN1):c.852A>G (p.Ala284=)
|
rs2136129359
|
|
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala)
|
rs2136129327
|
|
NM_001370259.2(MEN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)
|
rs2136129231
|
|
NM_001370259.2(MEN1):c.85C>A (p.Arg29=)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.861G>C (p.Glu287Asp)
|
|
|
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)
|
|
|
NM_001370259.2(MEN1):c.864G>A (p.Glu288=)
|
rs769748450
|
|
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly)
|
|
|
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
|
|
|
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala)
|
rs1413160325
|
|
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser)
|
|
|
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg)
|
rs745857419
|
|
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
|
|
|
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile)
|
rs780646691
|
|
NM_001370259.2(MEN1):c.876C>G (p.Thr292=)
|
rs756782257
|
|
NM_001370259.2(MEN1):c.876C>T (p.Thr292=)
|
rs756782257
|
|
NM_001370259.2(MEN1):c.877C>G (p.Pro293Ala)
|
rs2136128745
|
|
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser)
|
|
|
NM_001370259.2(MEN1):c.879del (p.Gly294fs)
|
|
|
NM_001370259.2(MEN1):c.87A>C (p.Arg29=)
|
rs1198070818
|
|
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser)
|
rs1565645429
|
|
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp)
|
rs1941778425
|
|
NM_001370259.2(MEN1):c.881dup (p.Arg295fs)
|
|
|
NM_001370259.2(MEN1):c.882C>T (p.Gly294=)
|
|
|
NM_001370259.2(MEN1):c.883C>A (p.Arg295=)
|
|
|
NM_001370259.2(MEN1):c.885G>A (p.Arg295=)
|
|
|
NM_001370259.2(MEN1):c.886C>T (p.Pro296Ser)
|
rs1941777494
|
|
NM_001370259.2(MEN1):c.887C>T (p.Pro296Leu)
|
|
|
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys)
|
rs2136194576
|
|
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly)
|
rs1592646361
|
|
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala)
|
rs1555165268
|
|
NM_001370259.2(MEN1):c.892C>T (p.Pro298Ser)
|
|
|
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu)
|
rs2136128195
|
|
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
|
|
|
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.895del (p.Leu299fs)
|
|
|
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)
|
rs1409781409
|
|
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser)
|
rs1592646309
|
|
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile)
|
rs1941776482
|
|
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)
|
rs1942017685
|
|
NM_001370259.2(MEN1):c.900C>T (p.Thr300=)
|
rs1592646297
|
|
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile)
|
rs1941775680
|
|
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro)
|
rs2136127925
|
|
NM_001370259.2(MEN1):c.903C>G (p.Leu301=)
|
rs1592646283
|
|
NM_001370259.2(MEN1):c.903C>T (p.Leu301=)
|
rs1592646283
|
|
NM_001370259.2(MEN1):c.906C>T (p.Tyr302=)
|
rs1592646265
|
|
NM_001370259.2(MEN1):c.907C>T (p.His303Tyr)
|
rs1941775165
|
|
NM_001370259.2(MEN1):c.908A>G (p.His303Arg)
|
rs373805140
|
|
NM_001370259.2(MEN1):c.909C>G (p.His303Gln)
|
|
|
NM_001370259.2(MEN1):c.909C>T (p.His303=)
|
rs878855200
|
|
NM_001370259.2(MEN1):c.910A>C (p.Lys304Gln)
|
|
|
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu)
|
rs1941774610
|
|
NM_001370259.2(MEN1):c.912+13A>G
|
rs754283643
|
|
NM_001370259.2(MEN1):c.912+18G>A
|
|
|
NM_001370259.2(MEN1):c.912+19G>A
|
rs780657282
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+1G>C
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+20G>A
|
|
|
NM_001370259.2(MEN1):c.912+20G>T
|
|
|
NM_001370259.2(MEN1):c.912+2T>A
|
|
|
NM_001370259.2(MEN1):c.912+2T>G
|
rs1555165256
|
|
NM_001370259.2(MEN1):c.912+3G>T
|
|
|
NM_001370259.2(MEN1):c.912+5G>A
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+5G>C
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+6G>T
|
rs755302991
|
|
NM_001370259.2(MEN1):c.912+7G>A
|
|
|
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.913-10C>T
|
rs2136122123
|
|
NM_001370259.2(MEN1):c.913-11C>T
|
rs2136122142
|
|
NM_001370259.2(MEN1):c.913-11_913-6dup
|
|
|
NM_001370259.2(MEN1):c.913-12A>C
|
|
|
NM_001370259.2(MEN1):c.913-13C>T
|
rs1309344851
|
|
NM_001370259.2(MEN1):c.913-15C>T
|
rs1941734915
|
|
NM_001370259.2(MEN1):c.913-15del
|
rs2136122252
|
|
NM_001370259.2(MEN1):c.913-16C>T
|
|
|
NM_001370259.2(MEN1):c.913-1G>A
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-1G>C
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-2A>G
|
rs1114167498
|
|
NM_001370259.2(MEN1):c.913-4C>T
|
rs770413697
|
|
NM_001370259.2(MEN1):c.913-5T>C
|
|
|
NM_001370259.2(MEN1):c.913-79T>A
|
|
|
NM_001370259.2(MEN1):c.913-7C>T
|
rs911501970
|
|
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser)
|
rs1555165146
|
|
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp)
|
rs1592644100
|
|
NM_001370259.2(MEN1):c.914G>C (p.Gly305Ala)
|
|
|
NM_001370259.2(MEN1):c.915C>T (p.Gly305=)
|
|
|
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val)
|
|
|
NM_001370259.2(MEN1):c.917T>C (p.Ile306Thr)
|
|
|
NM_001370259.2(MEN1):c.918T>G (p.Ile306Met)
|
|
|
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys)
|
rs1942017514
|
|
NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)
|
|
|
NM_001370259.2(MEN1):c.920C>T (p.Ala307Val)
|
|
|
NM_001370259.2(MEN1):c.921C>G (p.Ala307=)
|
rs1060503788
|
|
NM_001370259.2(MEN1):c.921C>T (p.Ala307=)
|
rs1060503788
|
|
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter)
|
rs1565644366
|
|
NM_001370259.2(MEN1):c.927C>G (p.Ala309=)
|
|
|
NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn)
|
rs1941731256
|
|
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile)
|
rs1565644342
|
|
NM_001370259.2(MEN1):c.933C>A (p.Thr311=)
|
rs1592643965
|
|
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
|
|
|
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe)
|
rs1592643944
|
|
NM_001370259.2(MEN1):c.935_936insTCGGGATGAA (p.Tyr313fs)
|
|
|
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.939T>C (p.Tyr313=)
|
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370259.2(MEN1):c.93G>C (p.Glu31Asp)
|
|
|
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly)
|
rs139936447
|
|
NM_001370259.2(MEN1):c.940_1050-227del
|
|
|
NM_001370259.2(MEN1):c.941G>C (p.Arg314Pro)
|
|
|
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu)
|
|
|
NM_001370259.2(MEN1):c.942G>A (p.Arg314=)
|
|
|
NM_001370259.2(MEN1):c.943G>A (p.Asp315Asn)
|
|
|
NM_001370259.2(MEN1):c.943G>C (p.Asp315His)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
|
|
|
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys)
|
rs780563052
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370259.2(MEN1):c.951C>T (p.His317=)
|
|
|
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val)
|
rs1565644220
|
|
NM_001370259.2(MEN1):c.954C>A (p.Ile318=)
|
rs2136120737
|
|
NM_001370259.2(MEN1):c.954C>T (p.Ile318=)
|
rs2136120737
|
|
NM_001370259.2(MEN1):c.955T>G (p.Tyr319Asp)
|
rs1555165101
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
NM_001370259.2(MEN1):c.956A>G (p.Tyr319Cys)
|
|
|
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
|
|
|
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.959C>G (p.Pro320Arg)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)
|
rs2136194414
|
|
NM_001370259.2(MEN1):c.960C>G (p.Pro320=)
|
rs1592643701
|
|
NM_001370259.2(MEN1):c.960dup (p.Tyr321fs)
|
|
|
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)
|
rs1555165094
|
|
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=)
|
rs1555165094
|
|
NM_001370259.2(MEN1):c.964A>G (p.Met322Val)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys)
|
|
|
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr)
|
rs1941725569
|
|
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg)
|
rs1941725569
|
|
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile)
|
rs947594206
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=)
|
|
|
NM_001370259.2(MEN1):c.96G>A (p.Pro32=)
|
rs1268807885
|
|
NM_001370259.2(MEN1):c.970C>A (p.Leu324Met)
|
|
|
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)
|
rs1941723156
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001370259.2(MEN1):c.972G>A (p.Leu324=)
|
rs1592643568
|
|
NM_001370259.2(MEN1):c.972G>C (p.Leu324=)
|
rs1592643568
|
|
NM_001370259.2(MEN1):c.973G>A (p.Ala325Thr)
|
|
|
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp)
|
rs370840265
|
|
NM_001370259.2(MEN1):c.978C>T (p.Gly326=)
|
rs1555165071
|
|
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
|
|
|
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_001370259.2(MEN1):c.981C>A (p.Tyr327Ter)
|
|
|
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)
|
rs1592643488
|
|
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=)
|
rs1592643488
|
|
NM_001370259.2(MEN1):c.982C>A (p.His328Asn)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>G (p.His328Asp)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
|
|
|
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly)
|
rs1565644005
|
|
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
|
|
|
NM_001370259.2(MEN1):c.990C>T (p.Arg330=)
|
rs1359880787
|
|
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys)
|
rs1941721650
|
|
NM_001370259.2(MEN1):c.995G>A (p.Arg332His)
|
rs2136119513
|
|
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu)
|
|
|
NM_001370259.2(MEN1):c.996C>T (p.Arg332=)
|
rs2136119464
|
|
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
|
|
|
NM_001370259.2(MEN1):c.99C>T (p.Asp33=)
|
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
NM_001382508.1(DROSHA):c.2436_2439del (p.Asp814fs)
|
|
|
NM_001382508.1(DROSHA):c.2883-1G>A
|
|
|
NM_001382508.1(DROSHA):c.2988A>C (p.Leu996Phe)
|
|
|
NM_001382508.1(DROSHA):c.3261+1G>C
|
|
|
NM_001382508.1(DROSHA):c.3548del (p.Asn1183fs)
|
|
|
NM_001382508.1(DROSHA):c.403_409delinsCCACTT (p.Ala135fs)
|
|
|
NM_001382508.1(DROSHA):c.811C>T (p.Arg271Ter)
|
|
|
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)
|
rs1575330336
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis)
|
rs1553630102
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_001933.5(DLST):c.647G>T (p.Gly216Val)
|
|
|
NM_001933.5(DLST):c.911A>G (p.Asp304Gly)
|
|
|
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)
|
rs1640240555
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)
|
rs137853226
|
|
NM_002382.4(MAX):c.-211C>G
|
rs899541680
|
|
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.172-6166A>G
|
|
|
NM_002382.5(MAX):c.172-6254del
|
|
|
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.269G>A (p.Arg90Gln)
|
rs876659562
|
|
NM_002382.5(MAX):c.346C>T (p.Pro116Ser)
|
rs1186625283
|
|
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)
|
rs2063874476
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.364C>A (p.Leu122Ile)
|
|
|
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.417C>G (p.Asp139Glu)
|
rs2139739918
|
|
NM_002382.5(MAX):c.47C>T (p.Pro16Leu)
|
rs2063834899
|
|
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_002430.3(MN1):c.912GCA[5] (p.Gln309del)
|
rs747503495
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)
|
rs1035934237
|
|
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)
|
rs1647927494
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
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.(-151_-1)_(72+1_73-1)del
|
|
|
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.10G>T (p.Val4Leu)
|
|
|
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.11T>C (p.Val4Ala)
|
|
|
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.129C>A (p.Ala43=)
|
|
|
NM_003000.3(SDHB):c.129C>T (p.Ala43=)
|
|
|
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.132C>A (p.Ile44=)
|
|
|
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>C (p.Arg46Pro)
|
|
|
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.139T>A (p.Trp47Arg)
|
|
|
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.141G>C (p.Trp47Cys)
|
|
|
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.163A>C (p.Lys55Gln)
|
|
|
NM_003000.3(SDHB):c.163A>G (p.Lys55Glu)
|
|
|
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.185A>G (p.Glu62Gly)
|
|
|
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_21delinsACT (p.Ser8fs)
|
|
|
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.197A>G (p.Asn66Ser)
|
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
NM_003000.3(SDHB):c.1A>G (p.Met1Val)
|
|
|
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+19G>A
|
|
|
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.201-4429_287-934del
|
|
|
NM_003000.3(SDHB):c.201-4T>A
|
|
|
NM_003000.3(SDHB):c.201-5G>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.225T>G (p.Ala75=)
|
|
|
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.242A>G (p.Asn81Ser)
|
|
|
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.258T>C (p.Thr86=)
|
|
|
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.26T>C (p.Leu9Ser)
|
|
|
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.273A>G (p.Arg91=)
|
|
|
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.278G>T (p.Cys93Phe)
|
rs1131691054
|
|
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.287-15G>C
|
|
|
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>C (p.Arg10=)
|
|
|
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>A (p.Cys101Tyr)
|
rs74315371
|
|
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.303T>G (p.Cys101Trp)
|
|
|
NM_003000.3(SDHB):c.305C>A (p.Ala102Glu)
|
|
|
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.310A>T (p.Asn104Tyr)
|
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.312C>G (p.Asn104Lys)
|
|
|
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.321A>G (p.Gly107=)
|
|
|
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.336T>G (p.Ala112=)
|
|
|
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>G (p.Arg12Gly)
|
|
|
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.364A>C (p.Asn122His)
|
|
|
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.36G>T (p.Arg12=)
|
|
|
NM_003000.3(SDHB):c.36del (p.Leu13fs)
|
|
|
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.375_376delinsGT (p.Lys126Ter)
|
|
|
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.418_419del (p.Val140fs)
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.421C>G (p.Pro141Ala)
|
|
|
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+5G>T
|
|
|
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.424-20C>T
|
|
|
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.424-79_424-2del
|
|
|
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.465T>G (p.Pro155=)
|
|
|
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.494_497del (p.Glu165fs)
|
|
|
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>C (p.Lys167Gln)
|
|
|
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.510T>A (p.Tyr170Ter)
|
|
|
NM_003000.3(SDHB):c.510T>C (p.Tyr170=)
|
|
|
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+10C>G
|
|
|
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+17_540+20del
|
|
|
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+7A>C
|
|
|
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.541-15T>G
|
|
|
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>A (p.Trp201Ter)
|
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.604A>G (p.Asn202Asp)
|
|
|
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.618T>C (p.Tyr206=)
|
|
|
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.622G>A (p.Gly208Arg)
|
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.623G>T (p.Gly208Val)
|
|
|
NM_003000.3(SDHB):c.624G>A (p.Gly208=)
|
|
|
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.626C>T (p.Pro209Leu)
|
|
|
NM_003000.3(SDHB):c.627T>C (p.Pro209=)
|
rs1060505016
|
|
NM_003000.3(SDHB):c.628G>A (p.Ala210Thr)
|
|
|
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.633T>A (p.Val211=)
|
|
|
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>A
|
|
|
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.643-10G>T
|
|
|
NM_003000.3(SDHB):c.643-11T>A
|
|
|
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.643-1G>A
|
rs1553177292
|
|
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.654G>T (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.665C>T (p.Ser222Phe)
|
|
|
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>A (p.Glu228Lys)
|
|
|
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.687dup (p.Arg230fs)
|
|
|
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>A (p.Gln24Lys)
|
|
|
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.711_716del (p.Phe238_Ser239del)
|
|
|
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+18dup
|
|
|
NM_003000.3(SDHB):c.72+19G>A
|
|
|
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+2T>G
|
|
|
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+6T>G
|
|
|
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.73-11A>G
|
|
|
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.73-16C>A
|
|
|
NM_003000.3(SDHB):c.73-16C>T
|
|
|
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.73-22T>A
|
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-2A>C
|
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-6T>C
|
|
|
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>C (p.Thr245Pro)
|
|
|
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.740T>C (p.Met247Thr)
|
|
|
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.745T>G (p.Cys249Gly)
|
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.74C>T (p.Ala25Val)
|
|
|
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.757del (p.Cys253fs)
|
|
|
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.764A>G (p.Lys255Arg)
|
|
|
NM_003000.3(SDHB):c.765+12T>C
|
|
|
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+1721_765+1726delinsTTTT
|
|
|
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.766-10T>C
|
|
|
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.774_778del (p.Asn258fs)
|
|
|
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.792A>G (p.Ala264=)
|
|
|
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.817T>C (p.Tyr273His)
|
|
|
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>G (p.Glu275Gly)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.825GAA[1] (p.Lys277del)
|
|
|
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.834T>C (p.Ala278=)
|
rs1570942568
|
|
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.*1314C>A
|
rs376293449
|
|
NM_003001.3(SDHC):c.*1332C>A
|
rs886045485
|
|
NM_003001.3(SDHC):c.*1534G>T
|
rs886045487
|
|
NM_003001.3(SDHC):c.*1584C>G
|
rs886045488
|
|
NM_003001.3(SDHC):c.*1695G>T
|
rs886045489
|
|
NM_003001.3(SDHC):c.*1784G>C
|
rs886045491
|
|
NM_003001.3(SDHC):c.*1843C>A
|
rs886045492
|
|
NM_003001.3(SDHC):c.*1898C>A
|
rs886045493
|
|
NM_003001.3(SDHC):c.*2141C>A
|
rs886045494
|
|
NM_003001.3(SDHC):c.*2236C>A
|
rs886045495
|
|
NM_003001.3(SDHC):c.*2264G>T
|
rs886045496
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003001.3(SDHC):c.406-?_*2318+?del
|
|
|
NM_003001.4(SDHC):c.*1012G>T
|
rs886045484
|
|
NM_003001.5(SDHC):c.*527G>T
|
rs886045481
|
|
NM_003001.5(SDHC):c.102C>T (p.Ala34=)
|
rs1571851493
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
NM_003001.5(SDHC):c.105AGA[1] (p.Glu37del)
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
|
|
|
NM_003001.5(SDHC):c.108A>G (p.Glu36=)
|
rs2102307691
|
|
NM_003001.5(SDHC):c.109G>A (p.Glu37Lys)
|
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
NM_003001.5(SDHC):c.10C>T (p.Leu4=)
|
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.118dup (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
NM_003001.5(SDHC):c.120G>C (p.Arg40=)
|
rs36097930
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
NM_003001.5(SDHC):c.123C>T (p.Phe41=)
|
|
|
NM_003001.5(SDHC):c.124T>C (p.Trp42Arg)
|
|
|
NM_003001.5(SDHC):c.124del (p.Trp42fs)
|
rs2102307803
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
NM_003001.5(SDHC):c.129T>A (p.Asn43Lys)
|
|
|
NM_003001.5(SDHC):c.12G>A (p.Leu4=)
|
rs745443094
|
|
NM_003001.5(SDHC):c.12G>T (p.Leu4=)
|
rs745443094
|
|
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
NM_003001.5(SDHC):c.132G>A (p.Lys44=)
|
rs2102307834
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
NM_003001.5(SDHC):c.135T>C (p.Asn45=)
|
rs2102307847
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
NM_003001.5(SDHC):c.143C>G (p.Ser48Ter)
|
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
|
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.148C>A (p.Arg50Ser)
|
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
NM_003001.5(SDHC):c.154C>T (p.Leu52=)
|
|
|
NM_003001.5(SDHC):c.155T>C (p.Leu52Pro)
|
|
|
NM_003001.5(SDHC):c.156G>A (p.Leu52=)
|
rs987490127
|
|
NM_003001.5(SDHC):c.156G>C (p.Leu52=)
|
rs987490127
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.160C>G (p.Pro54Ala)
|
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.162C>A (p.Pro54=)
|
rs374450282
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
NM_003001.5(SDHC):c.165C>T (p.His55=)
|
rs786202080
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
NM_003001.5(SDHC):c.169A>T (p.Thr57Ser)
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
|
|
|
NM_003001.5(SDHC):c.171_179+15del
|
rs1671156558
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
|
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
NM_003001.5(SDHC):c.175del (p.Tyr59fs)
|
rs1671157149
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.177C>T (p.Tyr59=)
|
rs1571851717
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
NM_003001.5(SDHC):c.179+10_179+19del
|
rs2102308128
|
|
NM_003001.5(SDHC):c.179+10del
|
|
|
NM_003001.5(SDHC):c.179+12T>C
|
|
|
NM_003001.5(SDHC):c.179+16G>A
|
|
|
NM_003001.5(SDHC):c.179+17G>C
|
rs2102308146
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+1G>T
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+20C>A
|
rs2102308154
|
|
NM_003001.5(SDHC):c.179+20C>G
|
|
|
NM_003001.5(SDHC):c.179+2T>A
|
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
NM_003001.5(SDHC):c.179+8A>C
|
rs2102308122
|
|
NM_003001.5(SDHC):c.179+9G>A
|
rs1558167376
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)
|
rs1553260596
|
|
NM_003001.5(SDHC):c.180-10T>C
|
rs2102335974
|
|
NM_003001.5(SDHC):c.180-10T>G
|
|
|
NM_003001.5(SDHC):c.180-11T>G
|
rs201473466
|
|
NM_003001.5(SDHC):c.180-12G>A
|
|
|
NM_003001.5(SDHC):c.180-13T>C
|
|
|
NM_003001.5(SDHC):c.180-13_180-12insA
|
|
|
NM_003001.5(SDHC):c.180-15T>A
|
rs2102335958
|
|
NM_003001.5(SDHC):c.180-16G>A
|
|
|
NM_003001.5(SDHC):c.180-17T>C
|
|
|
NM_003001.5(SDHC):c.180-17del
|
|
|
NM_003001.5(SDHC):c.180-19T>C
|
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
NM_003001.5(SDHC):c.180-4A>G
|
|
|
NM_003001.5(SDHC):c.180-6T>C
|
|
|
NM_003001.5(SDHC):c.180-9T>C
|
rs2102335976
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
NM_003001.5(SDHC):c.183G>A (p.Trp61Ter)
|
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
NM_003001.5(SDHC):c.183del (p.Trp61fs)
|
rs1671684409
|
|
NM_003001.5(SDHC):c.184T>C (p.Ser62Pro)
|
|
|
NM_003001.5(SDHC):c.184T>G (p.Ser62Ala)
|
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
NM_003001.5(SDHC):c.18G>C (p.Leu6=)
|
rs1571828901
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
NM_003001.5(SDHC):c.19A>G (p.Arg7Gly)
|
|
|
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
|
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
NM_003001.5(SDHC):c.20+10G>A
|
rs1060504224
|
|
NM_003001.5(SDHC):c.20+10_20+11insCG
|
rs2102271943
|
|
NM_003001.5(SDHC):c.20+11_20+12insTT
|
|
|
NM_003001.5(SDHC):c.20+13G>A
|
|
|
NM_003001.5(SDHC):c.20+14G>A
|
|
|
NM_003001.5(SDHC):c.20+14G>T
|
rs2102272018
|
|
NM_003001.5(SDHC):c.20+15A>C
|
|
|
NM_003001.5(SDHC):c.20+16C>A
|
rs2102272025
|
|
NM_003001.5(SDHC):c.20+17T>A
|
rs2102272030
|
|
NM_003001.5(SDHC):c.20+18G>A
|
rs2102272035
|
|
NM_003001.5(SDHC):c.20+1G>A
|
|
|
NM_003001.5(SDHC):c.20+1G>T
|
rs1249046874
|
|
NM_003001.5(SDHC):c.20+2T>A
|
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
NM_003001.5(SDHC):c.20+4066C>G
|
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
NM_003001.5(SDHC):c.20+7T>G
|
rs1553260599
|
|
NM_003001.5(SDHC):c.20+8C>A
|
rs773661299
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
NM_003001.5(SDHC):c.20+9A>C
|
rs1271741954
|
|
NM_003001.5(SDHC):c.20+9A>G
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
NM_003001.5(SDHC):c.204dup (p.Ile69fs)
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
NM_003001.5(SDHC):c.21-10T>C
|
rs771805280
|
|
NM_003001.5(SDHC):c.21-10dup
|
rs759481419
|
|
NM_003001.5(SDHC):c.21-1G>A
|
|
|
NM_003001.5(SDHC):c.21-22_30dup
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.21-3C>G
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-4G>A
|
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
NM_003001.5(SDHC):c.21-6T>C
|
rs779721144
|
|
NM_003001.5(SDHC):c.21-7C>T
|
|
|
NM_003001.5(SDHC):c.21-8T>C
|
rs1571843525
|
|
NM_003001.5(SDHC):c.21-9A>G
|
rs2102295295
|
|
NM_003001.5(SDHC):c.21-9A>T
|
rs2102295295
|
|
NM_003001.5(SDHC):c.210C>T (p.Cys70=)
|
rs2102336228
|
|
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.214del (p.Arg72fs)
|
rs2102336244
|
|
NM_003001.5(SDHC):c.215del (p.Arg72fs)
|
rs1553264218
|
|
NM_003001.5(SDHC):c.219C>T (p.Gly73=)
|
rs752049668
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
|
|
|
NM_003001.5(SDHC):c.222T>C (p.Thr74=)
|
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
NM_003001.5(SDHC):c.226dup (p.Ile76fs)
|
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
NM_003001.5(SDHC):c.232T>C (p.Leu78=)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
NM_003001.5(SDHC):c.237T>C (p.Ser79=)
|
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
NM_003001.5(SDHC):c.241+12T>C
|
rs2102336458
|
|
NM_003001.5(SDHC):c.241+13G>A
|
|
|
NM_003001.5(SDHC):c.241+13_241+14del
|
rs2102336452
|
|
NM_003001.5(SDHC):c.241+14T>C
|
rs2102336463
|
|
NM_003001.5(SDHC):c.241+15T>C
|
|
|
NM_003001.5(SDHC):c.241+15T>G
|
|
|
NM_003001.5(SDHC):c.241+17T>C
|
|
|
NM_003001.5(SDHC):c.241+18T>A
|
rs2102336473
|
|
NM_003001.5(SDHC):c.241+19A>G
|
|
|
NM_003001.5(SDHC):c.241+19AC[3]
|
|
|
NM_003001.5(SDHC):c.241+20C>A
|
|
|
NM_003001.5(SDHC):c.241+20C>G
|
|
|
NM_003001.5(SDHC):c.241+3A>G
|
rs1413662099
|
|
NM_003001.5(SDHC):c.241+4T>C
|
|
|
NM_003001.5(SDHC):c.241+4_241+5delinsAT
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
NM_003001.5(SDHC):c.241+7A>C
|
|
|
NM_003001.5(SDHC):c.241+7_241+10del
|
rs1571869349
|
|
NM_003001.5(SDHC):c.241+9A>G
|
|
|
NM_003001.5(SDHC):c.241+9_241+10del
|
rs1571869349
|
|
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
NM_003001.5(SDHC):c.242-13G>C
|
|
|
NM_003001.5(SDHC):c.242-1G>A
|
|
|
NM_003001.5(SDHC):c.242-20C>G
|
|
|
NM_003001.5(SDHC):c.242-2_242-1insT
|
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
NM_003001.5(SDHC):c.242-6C>T
|
rs1571889931
|
|
NM_003001.5(SDHC):c.242-8C>A
|
|
|
NM_003001.5(SDHC):c.242-9del
|
|
|
NM_003001.5(SDHC):c.243G>A (p.Gly81=)
|
|
|
NM_003001.5(SDHC):c.243G>C (p.Gly81=)
|
rs1314593051
|
|
NM_003001.5(SDHC):c.243G>T (p.Gly81=)
|
rs1314593051
|
|
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)
|
rs570325845
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
NM_003001.5(SDHC):c.246C>G (p.Val82=)
|
rs2102370246
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247dup (p.Ser83fs)
|
rs1672284298
|
|
NM_003001.5(SDHC):c.249T>C (p.Ser83=)
|
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
NM_003001.5(SDHC):c.24C>T (p.His8=)
|
rs761381438
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
NM_003001.5(SDHC):c.252T>C (p.Leu84=)
|
|
|
NM_003001.5(SDHC):c.252_255inv (p.Phe85Lys)
|
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.255T>C (p.Phe85=)
|
rs2102370353
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
NM_003001.5(SDHC):c.258C>T (p.Gly86=)
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
NM_003001.5(SDHC):c.267C>T (p.Ala89=)
|
|
|
NM_003001.5(SDHC):c.268C>T (p.Leu90=)
|
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
NM_003001.5(SDHC):c.276C>G (p.Leu92=)
|
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
NM_003001.5(SDHC):c.278dup (p.Gly94fs)
|
rs1483039185
|
|
NM_003001.5(SDHC):c.279T>G (p.Pro93=)
|
rs2102370578
|
|
NM_003001.5(SDHC):c.280G>A (p.Gly94Arg)
|
|
|
NM_003001.5(SDHC):c.282G>T (p.Gly94=)
|
rs536197277
|
|
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
|
|
|
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
NM_003001.5(SDHC):c.291G>A (p.Glu97=)
|
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
NM_003001.5(SDHC):c.292T>C (p.Ser98Pro)
|
|
|
NM_003001.5(SDHC):c.294T>C (p.Ser98=)
|
rs376292127
|
|
NM_003001.5(SDHC):c.294T>G (p.Ser98=)
|
rs376292127
|
|
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
NM_003001.5(SDHC):c.297T>C (p.Tyr99=)
|
rs2102370693
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
|
|
|
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)
|
rs1670517782
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
NM_003001.5(SDHC):c.30T>C (p.Gly10=)
|
rs1170595036
|
|
NM_003001.5(SDHC):c.30T>G (p.Gly10=)
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
NM_003001.5(SDHC):c.315C>G (p.Ser105=)
|
rs2102370802
|
|
NM_003001.5(SDHC):c.315C>T (p.Ser105=)
|
rs2102370802
|
|
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
|
|
|
NM_003001.5(SDHC):c.316dup (p.Leu106fs)
|
|
|
NM_003001.5(SDHC):c.318G>A (p.Leu106=)
|
rs1166833684
|
|
NM_003001.5(SDHC):c.320G>A (p.Cys107Tyr)
|
|
|
NM_003001.5(SDHC):c.322C>T (p.Leu108=)
|
rs2102370841
|
|
NM_003001.5(SDHC):c.327G>A (p.Gly109=)
|
|
|
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)
|
rs776485432
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
NM_003001.5(SDHC):c.331_333del (p.Ala111del)
|
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
NM_003001.5(SDHC):c.333A>G (p.Ala111=)
|
rs950221552
|
|
NM_003001.5(SDHC):c.334C>T (p.Leu112=)
|
rs1329297940
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
NM_003001.5(SDHC):c.345A>G (p.Thr115=)
|
rs2102371010
|
|
NM_003001.5(SDHC):c.348T>C (p.Ala116=)
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)
|
rs1672291512
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
NM_003001.5(SDHC):c.34C>T (p.His12Tyr)
|
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
NM_003001.5(SDHC):c.351G>A (p.Lys117=)
|
rs1571890344
|
|
NM_003001.5(SDHC):c.352T>C (p.Phe118Leu)
|
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
NM_003001.5(SDHC):c.357A>G (p.Ala119=)
|
rs2102371098
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
NM_003001.5(SDHC):c.360T>C (p.Leu120=)
|
rs2102371131
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
NM_003001.5(SDHC):c.363C>A (p.Val121=)
|
|
|
NM_003001.5(SDHC):c.363C>T (p.Val121=)
|
rs1273832397
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.365T>G (p.Phe122Cys)
|
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
NM_003001.5(SDHC):c.36T>C (p.His12=)
|
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
NM_003001.5(SDHC):c.371_372del (p.Leu124fs)
|
|
|
NM_003001.5(SDHC):c.372C>A (p.Leu124=)
|
rs766007157
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.379C>A (p.His127Asn)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
NM_003001.5(SDHC):c.381T>C (p.His127=)
|
rs867566924
|
|
NM_003001.5(SDHC):c.384C>T (p.Thr128=)
|
rs1553265821
|
|
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)
|
rs541278701
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
NM_003001.5(SDHC):c.388A>C (p.Asn130His)
|
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.390T>C (p.Asn130=)
|
rs2102371399
|
|
NM_003001.5(SDHC):c.393G>A (p.Gly131=)
|
|
|
NM_003001.5(SDHC):c.393G>T (p.Gly131=)
|
|
|
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)
|
rs2102371416
|
|
NM_003001.5(SDHC):c.396C>A (p.Ile132=)
|
|
|
NM_003001.5(SDHC):c.399A>G (p.Arg133=)
|
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003001.5(SDHC):c.402C>T (p.His134=)
|
rs754213041
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
NM_003001.5(SDHC):c.405+11T>A
|
|
|
NM_003001.5(SDHC):c.405+11T>G
|
rs2102371559
|
|
NM_003001.5(SDHC):c.405+12C>A
|
|
|
NM_003001.5(SDHC):c.405+13G>T
|
|
|
NM_003001.5(SDHC):c.405+14G>A
|
|
|
NM_003001.5(SDHC):c.405+15G>A
|
rs768628609
|
|
NM_003001.5(SDHC):c.405+16A>C
|
rs2102371614
|
|
NM_003001.5(SDHC):c.405+18T>C
|
|
|
NM_003001.5(SDHC):c.405+1G>A
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1del
|
rs1558182956
|
|
NM_003001.5(SDHC):c.405+3A>G
|
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
NM_003001.5(SDHC):c.405+7T>A
|
|
|
NM_003001.5(SDHC):c.405G>C (p.Leu135Phe)
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
NM_003001.5(SDHC):c.406-10T>C
|
rs1060504225
|
|
NM_003001.5(SDHC):c.406-10T>G
|
rs1060504225
|
|
NM_003001.5(SDHC):c.406-13del
|
rs752685687
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
NM_003001.5(SDHC):c.406-4A>G
|
|
|
NM_003001.5(SDHC):c.406-5C>T
|
rs1442391429
|
|
NM_003001.5(SDHC):c.406-5del
|
|
|
NM_003001.5(SDHC):c.406-6C>G
|
rs1337338303
|
|
NM_003001.5(SDHC):c.406-7T>C
|
rs1672546572
|
|
NM_003001.5(SDHC):c.406-8G>A
|
rs747093483
|
|
NM_003001.5(SDHC):c.406-8G>T
|
rs747093483
|
|
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)
|
rs1486341484
|
|
NM_003001.5(SDHC):c.408G>A (p.Met136Ile)
|
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
NM_003001.5(SDHC):c.409T>G (p.Trp137Gly)
|
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
NM_003001.5(SDHC):c.417A>G (p.Leu139=)
|
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.423A>G (p.Lys141=)
|
rs2102385065
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
NM_003001.5(SDHC):c.426C>T (p.Gly142=)
|
|
|
NM_003001.5(SDHC):c.429G>A (p.Leu143=)
|
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
NM_003001.5(SDHC):c.435T>A (p.Ile145=)
|
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
NM_003001.5(SDHC):c.436C>T (p.Pro146Ser)
|
|
|
NM_003001.5(SDHC):c.438C>A (p.Pro146=)
|
rs1418513098
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
NM_003001.5(SDHC):c.441G>A (p.Gln147=)
|
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
NM_003001.5(SDHC):c.442C>T (p.Leu148=)
|
|
|
NM_003001.5(SDHC):c.444A>G (p.Leu148=)
|
rs377230417
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
NM_003001.5(SDHC):c.453T>C (p.Ser151=)
|
rs2102385466
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.456A>C (p.Gly152=)
|
rs886251473
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
NM_003001.5(SDHC):c.45A>T (p.Arg15=)
|
rs1007336839
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
NM_003001.5(SDHC):c.462T>C (p.Val154=)
|
rs2102385569
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
NM_003001.5(SDHC):c.465C>G (p.Val155=)
|
rs1060504223
|
|
NM_003001.5(SDHC):c.466C>T (p.Leu156=)
|
rs1553266500
|
|
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
NM_003001.5(SDHC):c.470T>A (p.Val157Asp)
|
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003001.5(SDHC):c.474T>G (p.Leu158=)
|
rs2102385657
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
NM_003001.5(SDHC):c.477T>A (p.Thr159=)
|
rs759055559
|
|
NM_003001.5(SDHC):c.477T>C (p.Thr159=)
|
rs759055559
|
|
NM_003001.5(SDHC):c.478G>A (p.Val160Met)
|
rs1553266502
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
|
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.486C>T (p.Ser162=)
|
rs2102385816
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
NM_003001.5(SDHC):c.48C>G (p.Ala16=)
|
rs1553261765
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
NM_003001.5(SDHC):c.495G>A (p.Gly165=)
|
rs2102385878
|
|
NM_003001.5(SDHC):c.495G>T (p.Gly165=)
|
rs2102385878
|
|
NM_003001.5(SDHC):c.496C>T (p.Leu166=)
|
rs2102385898
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
NM_003001.5(SDHC):c.49del (p.His17fs)
|
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
NM_003001.5(SDHC):c.504C>T (p.Ala168=)
|
rs1571899229
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
NM_003001.5(SDHC):c.506T>C (p.Met169Thr)
|
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
NM_003001.5(SDHC):c.51C>A (p.His17Gln)
|
rs1571843732
|
|
NM_003001.5(SDHC):c.54T>C (p.Phe18=)
|
rs200761743
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
NM_003001.5(SDHC):c.60T>G (p.Pro20=)
|
rs2102295634
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
|
|
|
NM_003001.5(SDHC):c.63G>A (p.Gln21=)
|
|
|
NM_003001.5(SDHC):c.63G>C (p.Gln21His)
|
|
|
NM_003001.5(SDHC):c.66C>G (p.Leu22=)
|
rs778965036
|
|
NM_003001.5(SDHC):c.66C>T (p.Leu22=)
|
rs778965036
|
|
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
NM_003001.5(SDHC):c.6T>A (p.Ala2=)
|
|
|
NM_003001.5(SDHC):c.6T>C (p.Ala2=)
|
rs775353334
|
|
NM_003001.5(SDHC):c.6T>G (p.Ala2=)
|
rs775353334
|
|
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
NM_003001.5(SDHC):c.77+10T>A
|
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
NM_003001.5(SDHC):c.77+9C>T
|
rs2102295766
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
NM_003001.5(SDHC):c.78-15C>T
|
|
|
NM_003001.5(SDHC):c.78-16T>C
|
rs2102307516
|
|
NM_003001.5(SDHC):c.78-17G>A
|
|
|
NM_003001.5(SDHC):c.78-19C>A
|
rs144770080
|
|
NM_003001.5(SDHC):c.78-19del
|
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003001.5(SDHC):c.78-2A>G
|
|
|
NM_003001.5(SDHC):c.78-9T>G
|
rs2102307530
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
NM_003001.5(SDHC):c.81T>C (p.Ala27=)
|
rs876659297
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
NM_003001.5(SDHC):c.86del (p.Pro29fs)
|
rs1671145065
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.96C>T (p.Thr32=)
|
rs1671145722
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
NM_003001.5(SDHC):c.99G>C (p.Thr33=)
|
|
|
NM_003001.5(SDHC):c.9G>C (p.Ala3=)
|
|
|
NM_003001.5(SDHC):c.9G>T (p.Ala3=)
|
|
|
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.103C>T (p.Leu35Phe)
|
|
|
NM_003002.4(SDHD):c.104T>C (p.Leu35Pro)
|
rs11547892
|
|
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>A (p.Gln36=)
|
|
|
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>G (p.Leu4Val)
|
|
|
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)
|
rs1032016970
|
|
NM_003002.4(SDHD):c.10del (p.Leu4fs)
|
|
|
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.113G>T (p.Arg38Leu)
|
|
|
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
|
rs1865654197
|
|
NM_003002.4(SDHD):c.113_122del (p.Arg38fs)
|
|
|
NM_003002.4(SDHD):c.114A>C (p.Arg38=)
|
|
|
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.117del (p.Ile40fs)
|
|
|
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.123A>G (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.128G>A (p.Trp43Ter)
|
rs2135267337
|
|
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.135_160del (p.Val46fs)
|
rs1592778958
|
|
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+14A>G
|
|
|
NM_003002.4(SDHD):c.169+16C>T
|
|
|
NM_003002.4(SDHD):c.169+17G>A
|
|
|
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+5G>T
|
|
|
NM_003002.4(SDHD):c.169+7TC[2]
|
|
|
NM_003002.4(SDHD):c.169+8C>T
|
rs1592779083
|
|
NM_003002.4(SDHD):c.169+9T>G
|
|
|
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.174C>T (p.Gly58=)
|
rs1865684964
|
|
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>G (p.Ala62=)
|
|
|
NM_003002.4(SDHD):c.186A>T (p.Ala62=)
|
rs11547899
|
|
NM_003002.4(SDHD):c.187T>C (p.Ser63Pro)
|
|
|
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.197G>A (p.Trp66Ter)
|
|
|
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.204dup (p.Glu69fs)
|
|
|
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.210G>A (p.Arg70=)
|
|
|
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.217dup (p.Ser73fs)
|
rs2135269358
|
|
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.229C>A (p.Leu77Met)
|
|
|
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.23G>C (p.Ser8Thr)
|
|
|
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.24T>G (p.Ser8Arg)
|
|
|
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
|
|
|
NM_003002.4(SDHD):c.252T>C (p.Tyr84=)
|
|
|
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)
|
rs199517389
|
|
NM_003002.4(SDHD):c.257A>C (p.Asn86Thr)
|
|
|
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>G (p.Met91Val)
|
|
|
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.278_280del (p.Tyr93del)
|
rs121908983
|
|
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>A (p.Ser94Tyr)
|
|
|
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.285_296del (p.Ala96_Leu99del)
|
|
|
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.297C>G (p.Leu99=)
|
|
|
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.298del (p.Thr100fs)
|
rs1555187067
|
|
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+1638G>T
|
|
|
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.315-11T>C
|
|
|
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.315-6C>T
|
|
|
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.322G>A (p.Gly108Arg)
|
|
|
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
|
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.326_327del (p.Gln109fs)
|
rs1592786159
|
|
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)
|
rs1555187580
|
|
NM_003002.4(SDHD):c.330_331insTTCTTTAGGGGCCTTCAGTAACAAGTT (p.Val111delinsPhePheArgGlyLeuGlnTer)
|
|
|
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_338insT (p.Asp113fs)
|
rs587776645
|
|
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.34G>T (p.Gly12Cys)
|
|
|
NM_003002.4(SDHD):c.351G>A (p.Gly117=)
|
|
|
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.352dup (p.Asp118fs)
|
|
|
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>A (p.Ala119Thr)
|
|
|
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>G (p.Ala126Gly)
|
|
|
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>A (p.Ser132Thr)
|
|
|
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala)
|
rs2135277611
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
|
|
|
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.399T>C (p.Ala133=)
|
|
|
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>C (p.Leu139Pro)
|
rs80338847
|
|
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.424_427del (p.Phe142fs)
|
rs2135277706
|
|
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.443del (p.Gly148fs)
|
rs587776646
|
|
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.453A>T (p.Lys151Asn)
|
|
|
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.463del (p.Met155fs)
|
rs587776647
|
|
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+1G>T
|
|
|
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+3G>C
|
|
|
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.6G>C (p.Ala2=)
|
|
|
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.81A>T (p.Arg27Ser)
|
|
|
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>G (p.Ser32Ter)
|
|
|
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_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
NM_003376.6(VEGFA):c.*237C>T
|
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
NM_003502.4(AXIN1):c.1118G>A (p.Arg373His)
|
|
|
NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)
|
|
|
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)
|
rs1374026152
|
|
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)
|
rs1567651815
|
|
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)
|
rs1203876038
|
|
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)
|
rs1567650874
|
|
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)
|
rs1567650859
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
NM_003977.4(AIP):c.-12C>G
|
rs551077555
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
NM_003977.4(AIP):c.102C>G (p.Ala34=)
|
rs886048584
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
NM_003977.4(AIP):c.139G>A (p.Gly47Ser)
|
rs1462297112
|
|
NM_003977.4(AIP):c.13A>G (p.Ile5Val)
|
|
|
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)
|
rs267606537
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
NM_003977.4(AIP):c.166C>A (p.Arg56Ser)
|
rs267606538
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.236C>T (p.Thr79Ile)
|
|
|
NM_003977.4(AIP):c.238A>C (p.Met80Leu)
|
rs1397533476
|
|
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)
|
rs267606541
|
|
NM_003977.4(AIP):c.245_249del (p.Glu82fs)
|
rs267606542
|
|
NM_003977.4(AIP):c.249G>A (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.249G>T (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.250G>A (p.Glu84Lys)
|
rs267606543
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
NM_003977.4(AIP):c.362G>T (p.Cys121Phe)
|
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
NM_003977.4(AIP):c.419C>A (p.Ala140Asp)
|
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
NM_003977.4(AIP):c.433C>G (p.Pro145Ala)
|
rs1865853260
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.539C>A (p.Pro180Gln)
|
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
NM_003977.4(AIP):c.645+2T>C
|
rs1293512916
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
NM_004064.5(CDKN1B):c.127delinsTAA (p.Arg43Ter)
|
rs797044481
|
|
NM_004064.5(CDKN1B):c.279_280insT (p.Pro94fs)
|
rs797044482
|
|
NM_004064.5(CDKN1B):c.334del (p.Ser112fs)
|
rs797044483
|
|
NM_004132.5(HABP2):c.1520G>T (p.Gly507Val)
|
|
|
NM_004132.5(HABP2):c.1590C>T (p.Gly530=)
|
rs2133792767
|
|
NM_004132.5(HABP2):c.965C>T (p.Ala322Val)
|
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
NM_004168.3(SDHA):c.-84dup
|
rs35805262
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
NM_004168.4(SDHA):c.-1C>T
|
rs560932680
|
|
NM_004168.4(SDHA):c.-28_-20dup
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
NM_004168.4(SDHA):c.1005G>A (p.Lys335=)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
NM_004168.4(SDHA):c.1008C>T (p.Asp336=)
|
|
|
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)
|
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
NM_004168.4(SDHA):c.1014G>T (p.Ala338=)
|
rs201341132
|
|
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro)
|
rs1553999041
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
NM_004168.4(SDHA):c.1020A>G (p.Arg340=)
|
rs2126577996
|
|
NM_004168.4(SDHA):c.1021G>A (p.Asp341Asn)
|
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
NM_004168.4(SDHA):c.1026G>A (p.Val342=)
|
rs1060505004
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
NM_004168.4(SDHA):c.1029G>A (p.Val343=)
|
|
|
NM_004168.4(SDHA):c.102C>T (p.His34=)
|
rs2126539644
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
NM_004168.4(SDHA):c.1038C>A (p.Ser346=)
|
rs1041949
|
|
NM_004168.4(SDHA):c.1038C>T (p.Ser346=)
|
rs1041949
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
NM_004168.4(SDHA):c.103T>C (p.Phe35Leu)
|
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
NM_004168.4(SDHA):c.1041G>T (p.Met347Ile)
|
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
NM_004168.4(SDHA):c.1044T>A (p.Thr348=)
|
rs1553999055
|
|
NM_004168.4(SDHA):c.1045C>T (p.Leu349=)
|
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1049A>C (p.Glu350Ala)
|
|
|
NM_004168.4(SDHA):c.1053C>A (p.Ile351=)
|
rs2126578352
|
|
NM_004168.4(SDHA):c.1054C>A (p.Arg352=)
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
NM_004168.4(SDHA):c.1056A>C (p.Arg352=)
|
rs779804839
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
NM_004168.4(SDHA):c.1059A>G (p.Glu353=)
|
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
|
NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
NM_004168.4(SDHA):c.1064+5GT[3]
|
rs2126578488
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
NM_004168.4(SDHA):c.1064+7G>A
|
|
|
NM_004168.4(SDHA):c.1064+7G>T
|
rs2126578502
|
|
NM_004168.4(SDHA):c.1064+9G>A
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
NM_004168.4(SDHA):c.1065-10G>C
|
rs2126584071
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
NM_004168.4(SDHA):c.1065-12C>G
|
|
|
NM_004168.4(SDHA):c.1065-12_1065-11del
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
NM_004168.4(SDHA):c.1065-16T>G
|
|
|
NM_004168.4(SDHA):c.1065-17G>C
|
rs1268945057
|
|
NM_004168.4(SDHA):c.1065-17_1065-15dup
|
|
|
NM_004168.4(SDHA):c.1065-18G>C
|
|
|
NM_004168.4(SDHA):c.1065-19T>A
|
|
|
NM_004168.4(SDHA):c.1065-19T>C
|
rs1735682737
|
|
NM_004168.4(SDHA):c.1065-20A>G
|
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
|
NM_004168.4(SDHA):c.1065-5A>G
|
rs1579406152
|
|
NM_004168.4(SDHA):c.1065-6T>C
|
rs1579406151
|
|
NM_004168.4(SDHA):c.1065-8C>G
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
NM_004168.4(SDHA):c.1071T>C (p.Cys357=)
|
rs1553999410
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
NM_004168.4(SDHA):c.1074C>T (p.Gly358=)
|
rs1421396049
|
|
NM_004168.4(SDHA):c.1076C>T (p.Pro359Leu)
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
NM_004168.4(SDHA):c.1079A>T (p.Glu360Val)
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
NM_004168.4(SDHA):c.1083A>G (p.Lys361=)
|
rs1579406203
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
NM_004168.4(SDHA):c.1086T>C (p.Asp362=)
|
rs2126584236
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
NM_004168.4(SDHA):c.108T>C (p.Thr36=)
|
rs1301747916
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
NM_004168.4(SDHA):c.1092C>G (p.Val364=)
|
rs886060515
|
|
NM_004168.4(SDHA):c.1094A>G (p.Tyr365Cys)
|
|
|
NM_004168.4(SDHA):c.1096C>G (p.Leu366Val)
|
|
|
NM_004168.4(SDHA):c.1096C>T (p.Leu366=)
|
rs1305056679
|
|
NM_004168.4(SDHA):c.1098G>C (p.Leu366=)
|
rs1346189100
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)
|
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
NM_004168.4(SDHA):c.1104G>A (p.Leu368=)
|
rs2126584401
|
|
NM_004168.4(SDHA):c.1104G>T (p.Leu368=)
|
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1111C>T (p.Leu371=)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1113A>G (p.Leu371=)
|
rs2126584480
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
NM_004168.4(SDHA):c.1116T>G (p.Pro372=)
|
rs1735691014
|
|
NM_004168.4(SDHA):c.1119A>C (p.Pro373=)
|
rs1428505412
|
|
NM_004168.4(SDHA):c.1119A>G (p.Pro373=)
|
rs1428505412
|
|
NM_004168.4(SDHA):c.111T>C (p.Val37=)
|
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
NM_004168.4(SDHA):c.1122G>A (p.Glu374=)
|
|
|
NM_004168.4(SDHA):c.1122G>C (p.Glu374Asp)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
NM_004168.4(SDHA):c.1126C>T (p.Leu376=)
|
rs1579406388
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1131C>T (p.Ala377=)
|
rs2126584661
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
NM_004168.4(SDHA):c.1134G>C (p.Thr378=)
|
rs370002515
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
NM_004168.4(SDHA):c.1140G>A (p.Leu380=)
|
rs146348714
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
NM_004168.4(SDHA):c.1143T>C (p.Pro381=)
|
rs1735695108
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
NM_004168.4(SDHA):c.1146C>T (p.Gly382=)
|
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
NM_004168.4(SDHA):c.114T>C (p.Asp38=)
|
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
NM_004168.4(SDHA):c.1152A>T (p.Ser384=)
|
rs2126584840
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
NM_004168.4(SDHA):c.1158A>C (p.Thr386=)
|
rs2126584886
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)
|
|
|
NM_004168.4(SDHA):c.1162A>G (p.Met388Val)
|
rs1579406553
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
NM_004168.4(SDHA):c.1167C>T (p.Ile389=)
|
rs2126584963
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
NM_004168.4(SDHA):c.1173T>C (p.Ala391=)
|
rs1579406627
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
NM_004168.4(SDHA):c.1176C>A (p.Gly392=)
|
rs1041950
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_004168.4(SDHA):c.1185C>G (p.Val395=)
|
rs2126585130
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
NM_004168.4(SDHA):c.1192del (p.Glu398fs)
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
NM_004168.4(SDHA):c.1197G>T (p.Pro399=)
|
rs771919335
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
NM_004168.4(SDHA):c.11T>C (p.Val4Ala)
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
NM_004168.4(SDHA):c.1200C>T (p.Ile400=)
|
rs748383004
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
NM_004168.4(SDHA):c.1203T>C (p.Pro401=)
|
rs1553999484
|
|
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)
|
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
NM_004168.4(SDHA):c.1206C>G (p.Val402=)
|
|
|
NM_004168.4(SDHA):c.1206C>T (p.Val402=)
|
rs1183961449
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
NM_004168.4(SDHA):c.1209C>A (p.Leu403=)
|
rs2126585389
|
|
NM_004168.4(SDHA):c.1209C>T (p.Leu403=)
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>T (p.Asn40=)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004168.4(SDHA):c.1212C>A (p.Pro404=)
|
rs1579406812
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
NM_004168.4(SDHA):c.121A>G (p.Lys41Glu)
|
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
NM_004168.4(SDHA):c.1221T>C (p.His407=)
|
rs2126585516
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_004168.4(SDHA):c.1226A>T (p.Asn409Ile)
|
|
|
NM_004168.4(SDHA):c.1227C>T (p.Asn409=)
|
rs2126585562
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
NM_004168.4(SDHA):c.1233C>A (p.Gly411=)
|
rs376530094
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)
|
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
NM_004168.4(SDHA):c.123G>A (p.Lys41=)
|
rs1553997185
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
NM_004168.4(SDHA):c.1245C>G (p.Thr415=)
|
rs2126585715
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1257G>T (p.Gly419=)
|
rs753410011
|
|
NM_004168.4(SDHA):c.1257del (p.Gln420fs)
|
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
NM_004168.4(SDHA):c.1260+10C>T
|
rs1300688046
|
|
NM_004168.4(SDHA):c.1260+12G>A
|
|
|
NM_004168.4(SDHA):c.1260+13G>C
|
|
|
NM_004168.4(SDHA):c.1260+14C>T
|
rs1237313111
|
|
NM_004168.4(SDHA):c.1260+16C>T
|
rs2126585898
|
|
NM_004168.4(SDHA):c.1260+17C>T
|
rs750384205
|
|
NM_004168.4(SDHA):c.1260+18T>A
|
|
|
NM_004168.4(SDHA):c.1260+18T>C
|
|
|
NM_004168.4(SDHA):c.1260+19C>G
|
|
|
NM_004168.4(SDHA):c.1260+19C>T
|
rs1735711604
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+1G>T
|
|
|
NM_004168.4(SDHA):c.1260+23dup
|
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
NM_004168.4(SDHA):c.1260+8T>A
|
rs1325588204
|
|
NM_004168.4(SDHA):c.1260+8T>G
|
|
|
NM_004168.4(SDHA):c.1260+9G>T
|
rs1060505003
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
NM_004168.4(SDHA):c.1261-10C>G
|
rs1579409244
|
|
NM_004168.4(SDHA):c.1261-10C>T
|
rs1579409244
|
|
NM_004168.4(SDHA):c.1261-10del
|
|
|
NM_004168.4(SDHA):c.1261-11C>A
|
|
|
NM_004168.4(SDHA):c.1261-11C>G
|
rs2126589164
|
|
NM_004168.4(SDHA):c.1261-14C>T
|
|
|
NM_004168.4(SDHA):c.1261-16A>G
|
|
|
NM_004168.4(SDHA):c.1261-16A>T
|
rs1170006255
|
|
NM_004168.4(SDHA):c.1261-17A>T
|
|
|
NM_004168.4(SDHA):c.1261-19G>A
|
|
|
NM_004168.4(SDHA):c.1261-19G>T
|
|
|
NM_004168.4(SDHA):c.1261-1G>A
|
rs1735779936
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1261-3C>T
|
rs1553999705
|
|
NM_004168.4(SDHA):c.1261-4A>G
|
rs1553999703
|
|
NM_004168.4(SDHA):c.1261-4A>T
|
rs1553999703
|
|
NM_004168.4(SDHA):c.1261-5delinsGAAA
|
rs1553999701
|
|
NM_004168.4(SDHA):c.1261-6_1261-5insGAA
|
|
|
NM_004168.4(SDHA):c.1261-7T>A
|
rs1423583851
|
|
NM_004168.4(SDHA):c.1261-7T>G
|
rs1423583851
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
NM_004168.4(SDHA):c.1261-9T>C
|
rs1553999698
|
|
NM_004168.4(SDHA):c.1263C>T (p.Val421=)
|
rs2126589252
|
|
NM_004168.4(SDHA):c.1267A>C (p.Arg423=)
|
|
|
NM_004168.4(SDHA):c.1268G>A (p.Arg423Lys)
|
|
|
NM_004168.4(SDHA):c.126G>A (p.Arg42=)
|
rs2126539845
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
NM_004168.4(SDHA):c.1278T>C (p.Asn426=)
|
rs2126589395
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
NM_004168.4(SDHA):c.1290G>A (p.Gln430=)
|
rs772728779
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
NM_004168.4(SDHA):c.1293T>C (p.Ile431=)
|
rs1553999716
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
NM_004168.4(SDHA):c.1296G>A (p.Val432=)
|
|
|
NM_004168.4(SDHA):c.1296G>T (p.Val432=)
|
rs1223308548
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
NM_004168.4(SDHA):c.12C>T (p.Val4=)
|
rs749406988
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
NM_004168.4(SDHA):c.1302C>T (p.Gly434=)
|
rs1579409486
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1305G>A (p.Leu435=)
|
rs35964044
|
|
NM_004168.4(SDHA):c.1305G>C (p.Leu435=)
|
rs35964044
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.1320G>A (p.Glu440=)
|
rs2126589773
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
NM_004168.4(SDHA):c.1321G>A (p.Ala441Thr)
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
NM_004168.4(SDHA):c.1323C>G (p.Ala441=)
|
rs751561561
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
NM_004168.4(SDHA):c.1326C>T (p.Ala442=)
|
rs2126589832
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
NM_004168.4(SDHA):c.1329T>C (p.Cys443=)
|
rs2126589870
|
|
NM_004168.4(SDHA):c.132T>A (p.Ser44=)
|
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
NM_004168.4(SDHA):c.1331C>A (p.Ala444Asp)
|
|
|
NM_004168.4(SDHA):c.1332C>G (p.Ala444=)
|
rs1060505011
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1335G>C (p.Ser445=)
|
|
|
NM_004168.4(SDHA):c.1335G>T (p.Ser445=)
|
rs200223188
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
NM_004168.4(SDHA):c.1341T>C (p.His447=)
|
rs2126589989
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
NM_004168.4(SDHA):c.1344T>A (p.Gly448=)
|
|
|
NM_004168.4(SDHA):c.1344T>C (p.Gly448=)
|
rs551497992
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1347C>T (p.Ala449=)
|
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
NM_004168.4(SDHA):c.134C>G (p.Ala45Gly)
|
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1353C>T (p.Arg451=)
|
rs555342133
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
NM_004168.4(SDHA):c.1359G>A (p.Gly453=)
|
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
NM_004168.4(SDHA):c.1365C>T (p.Asn455=)
|
rs1579409853
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
NM_004168.4(SDHA):c.1367C>A (p.Ser456Ter)
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
NM_004168.4(SDHA):c.1368G>T (p.Ser456=)
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
NM_004168.4(SDHA):c.1371C>G (p.Leu457=)
|
rs75091805
|
|
NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter)
|
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
NM_004168.4(SDHA):c.1375G>A (p.Asp459Asn)
|
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
NM_004168.4(SDHA):c.1377C>T (p.Asp459=)
|
rs1579409909
|
|
NM_004168.4(SDHA):c.1378C>T (p.Leu460=)
|
rs760686493
|
|
NM_004168.4(SDHA):c.1380G>A (p.Leu460=)
|
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
NM_004168.4(SDHA):c.1386C>G (p.Val462=)
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
NM_004168.4(SDHA):c.1389T>C (p.Phe463=)
|
rs2126590369
|
|
NM_004168.4(SDHA):c.138A>G (p.Lys46=)
|
|
|
NM_004168.4(SDHA):c.138del (p.Val47fs)
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
NM_004168.4(SDHA):c.1392T>G (p.Gly464=)
|
rs1579409940
|
|
NM_004168.4(SDHA):c.1393C>A (p.Arg465=)
|
rs752461029
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
NM_004168.4(SDHA):c.1398A>C (p.Ala466=)
|
rs878854626
|
|
NM_004168.4(SDHA):c.13C>A (p.Arg5=)
|
rs770866830
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
NM_004168.4(SDHA):c.1405C>T (p.Leu469=)
|
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
NM_004168.4(SDHA):c.141T>C (p.Val47=)
|
rs748490907
|
|
NM_004168.4(SDHA):c.141T>G (p.Val47=)
|
rs748490907
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
NM_004168.4(SDHA):c.1421C>T (p.Ser474Leu)
|
|
|
NM_004168.4(SDHA):c.1422A>G (p.Ser474=)
|
rs201868424
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
NM_004168.4(SDHA):c.1431dup (p.Gly478fs)
|
|
|
NM_004168.4(SDHA):c.1432+10T>C
|
|
|
NM_004168.4(SDHA):c.1432+11T>A
|
|
|
NM_004168.4(SDHA):c.1432+11T>C
|
|
|
NM_004168.4(SDHA):c.1432+15C>T
|
rs2126590874
|
|
NM_004168.4(SDHA):c.1432+19A>C
|
|
|
NM_004168.4(SDHA):c.1432+1G>A
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG
|
rs1579410180
|
|
NM_004168.4(SDHA):c.1432+20G>A
|
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
NM_004168.4(SDHA):c.1432+20G>T
|
|
|
NM_004168.4(SDHA):c.1432+2T>C
|
|
|
NM_004168.4(SDHA):c.1432+2T>G
|
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
NM_004168.4(SDHA):c.1432+7G>A
|
rs760526397
|
|
NM_004168.4(SDHA):c.1432+7G>T
|
rs760526397
|
|
NM_004168.4(SDHA):c.1432+9T>G
|
rs1735803426
|
|
NM_004168.4(SDHA):c.1432+9_1432+11del
|
rs2126590852
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
NM_004168.4(SDHA):c.1433-10T>G
|
|
|
NM_004168.4(SDHA):c.1433-11T>C
|
|
|
NM_004168.4(SDHA):c.1433-11T>G
|
rs1194122879
|
|
NM_004168.4(SDHA):c.1433-13T>C
|
|
|
NM_004168.4(SDHA):c.1433-14T>A
|
rs2126602367
|
|
NM_004168.4(SDHA):c.1433-14T>C
|
rs2126602367
|
|
NM_004168.4(SDHA):c.1433-14T>G
|
rs2126602367
|
|
NM_004168.4(SDHA):c.1433-15T>A
|
|
|
NM_004168.4(SDHA):c.1433-16C>G
|
|
|
NM_004168.4(SDHA):c.1433-18A>G
|
|
|
NM_004168.4(SDHA):c.1433-19T>C
|
rs2126602340
|
|
NM_004168.4(SDHA):c.1433-1G>A
|
|
|
NM_004168.4(SDHA):c.1433-20C>G
|
|
|
NM_004168.4(SDHA):c.1433-2A>G
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
NM_004168.4(SDHA):c.1433-3del
|
rs2126602411
|
|
NM_004168.4(SDHA):c.1433-4T>G
|
rs2126602419
|
|
NM_004168.4(SDHA):c.1433-5T>A
|
rs2126602416
|
|
NM_004168.4(SDHA):c.1433-7G>A
|
|
|
NM_004168.4(SDHA):c.1433-8T>G
|
rs2126602401
|
|
NM_004168.4(SDHA):c.1433-8del
|
|
|
NM_004168.4(SDHA):c.1433-8dup
|
rs769594966
|
|
NM_004168.4(SDHA):c.1433-9T>C
|
rs1579417426
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
NM_004168.4(SDHA):c.1437dup (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
NM_004168.4(SDHA):c.1442T>C (p.Val481Ala)
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
NM_004168.4(SDHA):c.1443C>A (p.Val481=)
|
rs751871185
|
|
NM_004168.4(SDHA):c.1443C>T (p.Val481=)
|
rs751871185
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1446T>G (p.Pro482=)
|
rs767646499
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
NM_004168.4(SDHA):c.144A>C (p.Ser48=)
|
|
|
NM_004168.4(SDHA):c.144A>G (p.Ser48=)
|
|
|
NM_004168.4(SDHA):c.1451T>G (p.Ile484Ser)
|
|
|
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)
|
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
NM_004168.4(SDHA):c.1458A>G (p.Pro486=)
|
rs2126602561
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
NM_004168.4(SDHA):c.1464T>A (p.Ala488=)
|
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
|
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
NM_004168.4(SDHA):c.1479C>T (p.Val493=)
|
rs2126602710
|
|
NM_004168.4(SDHA):c.147T>C (p.Asp49=)
|
rs2126539950
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
NM_004168.4(SDHA):c.1487T>C (p.Leu496Pro)
|
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1497G>C (p.Leu499Phe)
|
|
|
NM_004168.4(SDHA):c.1498A>C (p.Arg500=)
|
rs2126602800
|
|
NM_004168.4(SDHA):c.1499G>A (p.Arg500Lys)
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.150+12C>G
|
rs773966272
|
|
NM_004168.4(SDHA):c.150+14T>C
|
|
|
NM_004168.4(SDHA):c.150+14T>G
|
|
|
NM_004168.4(SDHA):c.150+15T>C
|
rs1734837973
|
|
NM_004168.4(SDHA):c.150+17del
|
|
|
NM_004168.4(SDHA):c.150+17dup
|
rs1734837730
|
|
NM_004168.4(SDHA):c.150+18G>A
|
|
|
NM_004168.4(SDHA):c.150+18G>T
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
NM_004168.4(SDHA):c.150+21_150+25del
|
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
NM_004168.4(SDHA):c.150+7T>C
|
|
|
NM_004168.4(SDHA):c.150+7T>G
|
rs1734837376
|
|
NM_004168.4(SDHA):c.150+9A>G
|
rs1553997201
|
|
NM_004168.4(SDHA):c.1500A>G (p.Arg500=)
|
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
NM_004168.4(SDHA):c.1506T>C (p.Ala502=)
|
rs1364448678
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
NM_004168.4(SDHA):c.1509T>C (p.Asp503=)
|
rs2126602858
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
NM_004168.4(SDHA):c.151-12T>C
|
|
|
NM_004168.4(SDHA):c.151-14T>C
|
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
NM_004168.4(SDHA):c.151-15A>T
|
|
|
NM_004168.4(SDHA):c.151-16A>C
|
|
|
NM_004168.4(SDHA):c.151-17G>A
|
|
|
NM_004168.4(SDHA):c.151-18T>G
|
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.151-20G>C
|
rs2126542228
|
|
NM_004168.4(SDHA):c.151-20G>T
|
rs2126542228
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.151-3C>A
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
NM_004168.4(SDHA):c.151-4C>T
|
|
|
NM_004168.4(SDHA):c.151-6T>C
|
|
|
NM_004168.4(SDHA):c.151-7T>C
|
|
|
NM_004168.4(SDHA):c.151-8T>C
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
NM_004168.4(SDHA):c.151-9_151-7del
|
rs2126542243
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
NM_004168.4(SDHA):c.1531C>T (p.Leu511=)
|
rs768257880
|
|
NM_004168.4(SDHA):c.1533G>A (p.Leu511=)
|
rs876658698
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
NM_004168.4(SDHA):c.1548G>A (p.Gln516=)
|
rs2126603098
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
NM_004168.4(SDHA):c.1551+11G>C
|
|
|
NM_004168.4(SDHA):c.1551+12G>A
|
|
|
NM_004168.4(SDHA):c.1551+14C>T
|
|
|
NM_004168.4(SDHA):c.1551+16C>G
|
|
|
NM_004168.4(SDHA):c.1551+18C>A
|
|
|
NM_004168.4(SDHA):c.1551+18C>T
|
rs2126603212
|
|
NM_004168.4(SDHA):c.1551+1G>A
|
rs759806010
|
|
NM_004168.4(SDHA):c.1551+1G>C
|
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
NM_004168.4(SDHA):c.1551+7G>A
|
rs760796714
|
|
NM_004168.4(SDHA):c.1551+9C>T
|
rs2126603158
|
|
NM_004168.4(SDHA):c.1552-10T>C
|
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
NM_004168.4(SDHA):c.1552-12T>C
|
rs2126631871
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
NM_004168.4(SDHA):c.1552-17A>T
|
|
|
NM_004168.4(SDHA):c.1552-18T>A
|
|
|
NM_004168.4(SDHA):c.1552-18T>G
|
rs2126631828
|
|
NM_004168.4(SDHA):c.1552-1G>C
|
|
|
NM_004168.4(SDHA):c.1552-1G>T
|
|
|
NM_004168.4(SDHA):c.1552-20A>C
|
rs1378314484
|
|
NM_004168.4(SDHA):c.1552-20A>G
|
rs1378314484
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
NM_004168.4(SDHA):c.1552-4A>C
|
|
|
NM_004168.4(SDHA):c.1552-6C>T
|
rs2126631902
|
|
NM_004168.4(SDHA):c.1552-7G>C
|
rs1351792129
|
|
NM_004168.4(SDHA):c.1552-7G>T
|
rs1351792129
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
NM_004168.4(SDHA):c.1559A>G (p.Gln520Arg)
|
|
|
NM_004168.4(SDHA):c.1560A>G (p.Gln520=)
|
rs1261025402
|
|
NM_004168.4(SDHA):c.1561A>G (p.Asn521Asp)
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1569T>A (p.Ala523=)
|
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1572C>G (p.Ala524=)
|
rs185679709
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1578C>T (p.Phe526=)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1580G>T (p.Arg527Leu)
|
|
|
NM_004168.4(SDHA):c.1581T>C (p.Arg527=)
|
rs2126632074
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1584G>C (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1584G>T (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
NM_004168.4(SDHA):c.1586del (p.Gly529fs)
|
|
|
NM_004168.4(SDHA):c.1587A>C (p.Gly529=)
|
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
NM_004168.4(SDHA):c.1589G>C (p.Ser530Thr)
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
NM_004168.4(SDHA):c.1593G>A (p.Val531=)
|
rs2126632110
|
|
NM_004168.4(SDHA):c.1593G>C (p.Val531=)
|
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
NM_004168.4(SDHA):c.1599A>G (p.Gln533=)
|
rs1407806818
|
|
NM_004168.4(SDHA):c.159T>C (p.Ala53=)
|
|
|
NM_004168.4(SDHA):c.15G>C (p.Arg5=)
|
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
NM_004168.4(SDHA):c.1602A>G (p.Glu534=)
|
rs2126632157
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
NM_004168.4(SDHA):c.1607G>C (p.Cys536Ser)
|
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
NM_004168.4(SDHA):c.1608del (p.Cys536fs)
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
NM_004168.4(SDHA):c.1614A>G (p.Lys538=)
|
rs1554001847
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
NM_004168.4(SDHA):c.1617C>G (p.Ile539Met)
|
|
|
NM_004168.4(SDHA):c.1617C>T (p.Ile539=)
|
rs2126632215
|
|
NM_004168.4(SDHA):c.161A>C (p.Gln54Pro)
|
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)
|
|
|
NM_004168.4(SDHA):c.1626C>T (p.Leu542=)
|
rs1269358534
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1633G>C (p.Asp545His)
|
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1638A>C (p.Leu546=)
|
rs1041963
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
NM_004168.4(SDHA):c.1641G>A (p.Lys547=)
|
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
NM_004168.4(SDHA):c.1645C>T (p.Leu549=)
|
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
NM_004168.4(SDHA):c.1649A>C (p.Lys550Thr)
|
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
NM_004168.4(SDHA):c.1650G>A (p.Lys550=)
|
rs1359705251
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
NM_004168.4(SDHA):c.1659C>A (p.Asp553Glu)
|
|
|
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)
|
|
|
NM_004168.4(SDHA):c.1660C>A (p.Arg554=)
|
rs9809219
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1663+10C>G
|
|
|
NM_004168.4(SDHA):c.1663+11A>C
|
rs1037190778
|
|
NM_004168.4(SDHA):c.1663+12G>A
|
|
|
NM_004168.4(SDHA):c.1663+15_1663+16del
|
|
|
NM_004168.4(SDHA):c.1663+16G>C
|
|
|
NM_004168.4(SDHA):c.1663+16G>T
|
|
|
NM_004168.4(SDHA):c.1663+16del
|
|
|
NM_004168.4(SDHA):c.1663+17C>T
|
rs759291109
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
NM_004168.4(SDHA):c.1663+7A>G
|
rs1579438260
|
|
NM_004168.4(SDHA):c.1663+8G>C
|
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1663G>T (p.Gly555Ter)
|
|
|
NM_004168.4(SDHA):c.1664-10G>T
|
rs1736810726
|
|
NM_004168.4(SDHA):c.1664-11del
|
rs1561010692
|
|
NM_004168.4(SDHA):c.1664-11dup
|
|
|
NM_004168.4(SDHA):c.1664-12T>G
|
|
|
NM_004168.4(SDHA):c.1664-16C>T
|
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
NM_004168.4(SDHA):c.1664-19G>A
|
rs2126633052
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
NM_004168.4(SDHA):c.1664-1G>C
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
NM_004168.4(SDHA):c.1664-4C>A
|
rs774876028
|
|
NM_004168.4(SDHA):c.1664-4C>G
|
rs774876028
|
|
NM_004168.4(SDHA):c.1664-4C>T
|
|
|
NM_004168.4(SDHA):c.1664-5C>G
|
rs1211852182
|
|
NM_004168.4(SDHA):c.1664-6C>T
|
|
|
NM_004168.4(SDHA):c.1664-8G>T
|
|
|
NM_004168.4(SDHA):c.1664-9dup
|
rs2126633086
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
NM_004168.4(SDHA):c.1671C>G (p.Val557=)
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
NM_004168.4(SDHA):c.1677C>T (p.Asn559=)
|
rs2126633167
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
NM_004168.4(SDHA):c.1680G>T (p.Thr560=)
|
rs1139449
|
|
NM_004168.4(SDHA):c.1681G>A (p.Asp561Asn)
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>T (p.Leu562=)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
NM_004168.4(SDHA):c.1686G>C (p.Leu562=)
|
rs1579438828
|
|
NM_004168.4(SDHA):c.1686G>T (p.Leu562=)
|
rs1579438828
|
|
NM_004168.4(SDHA):c.1687G>C (p.Val563Leu)
|
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
NM_004168.4(SDHA):c.1689G>A (p.Val563=)
|
rs2126633222
|
|
NM_004168.4(SDHA):c.168A>G (p.Pro56=)
|
rs745316978
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
NM_004168.4(SDHA):c.1692G>A (p.Glu564=)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1693A>T (p.Thr565Ser)
|
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
NM_004168.4(SDHA):c.1704G>A (p.Leu568=)
|
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
NM_004168.4(SDHA):c.1709dup (p.Asn570fs)
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.1718T>C (p.Leu573Pro)
|
|
|
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
NM_004168.4(SDHA):c.1720T>C (p.Cys574Arg)
|
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
NM_004168.4(SDHA):c.1723G>T (p.Ala575Ser)
|
|
|
NM_004168.4(SDHA):c.1725G>T (p.Ala575=)
|
rs758252610
|
|
NM_004168.4(SDHA):c.1728G>A (p.Leu576=)
|
rs1736819188
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
NM_004168.4(SDHA):c.1731G>T (p.Gln577His)
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
NM_004168.4(SDHA):c.1737C>A (p.Ile579=)
|
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)
|
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
NM_004168.4(SDHA):c.1746A>T (p.Ala582=)
|
|
|
NM_004168.4(SDHA):c.174G>A (p.Val58=)
|
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
NM_004168.4(SDHA):c.1752_1753del (p.Arg585fs)
|
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
NM_004168.4(SDHA):c.1757A>G (p.Lys586Arg)
|
|
|
NM_004168.4(SDHA):c.1758G>A (p.Lys586=)
|
rs1554001953
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
NM_004168.4(SDHA):c.1761G>A (p.Glu587=)
|
rs2126633619
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
NM_004168.4(SDHA):c.1764A>G (p.Ser588=)
|
rs2126633642
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
NM_004168.4(SDHA):c.1765C>A (p.Arg589=)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1767G>C (p.Arg589=)
|
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
NM_004168.4(SDHA):c.1770C>A (p.Gly590=)
|
rs142457602
|
|
NM_004168.4(SDHA):c.1770C>G (p.Gly590=)
|
rs142457602
|
|
NM_004168.4(SDHA):c.1773G>C (p.Ala591=)
|
rs555028212
|
|
NM_004168.4(SDHA):c.1773G>T (p.Ala591=)
|
|
|
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
NM_004168.4(SDHA):c.1775A>T (p.His592Leu)
|
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
NM_004168.4(SDHA):c.1789dup (p.Tyr597fs)
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=)
|
rs1226155499
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
NM_004168.4(SDHA):c.1794+10C>G
|
|
|
NM_004168.4(SDHA):c.1794+10C>T
|
rs1060505010
|
|
NM_004168.4(SDHA):c.1794+11T>C
|
|
|
NM_004168.4(SDHA):c.1794+14C>G
|
rs1412436993
|
|
NM_004168.4(SDHA):c.1794+15C>T
|
|
|
NM_004168.4(SDHA):c.1794+18G>T
|
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1794+20C>A
|
rs2126633960
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
NM_004168.4(SDHA):c.1794+6C>T
|
|
|
NM_004168.4(SDHA):c.1794+6_1794+7dup
|
|
|
NM_004168.4(SDHA):c.1794+7C>T
|
|
|
NM_004168.4(SDHA):c.1794+8T>G
|
rs1050394308
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1795-5C>T
|
rs1169912956
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
NM_004168.4(SDHA):c.1797G>A (p.Val599=)
|
rs1060505012
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
NM_004168.4(SDHA):c.1806T>C (p.Asp602=)
|
rs1554002427
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)
|
rs1436919553
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
NM_004168.4(SDHA):c.1827C>T (p.Pro609=)
|
rs1060505006
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
NM_004168.4(SDHA):c.182A>G (p.Glu61Gly)
|
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
NM_004168.4(SDHA):c.1842G>A (p.Gln614=)
|
rs2126641413
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
NM_004168.4(SDHA):c.1845G>A (p.Lys615=)
|
rs1442827207
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
NM_004168.4(SDHA):c.1857G>A (p.Glu619=)
|
rs1247081812
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
NM_004168.4(SDHA):c.1875C>T (p.His625=)
|
rs1579445214
|
|
NM_004168.4(SDHA):c.1878C>T (p.Thr626=)
|
rs1579445226
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
NM_004168.4(SDHA):c.1884C>G (p.Ser628=)
|
rs1224468457
|
|
NM_004168.4(SDHA):c.1884C>T (p.Ser628=)
|
rs1224468457
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1896T>C (p.Val632=)
|
rs1554002492
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
NM_004168.4(SDHA):c.189T>C (p.Asp63=)
|
rs2126542493
|
|
NM_004168.4(SDHA):c.18C>A (p.Gly6=)
|
rs775847689
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1902T>G (p.Thr634=)
|
rs2126641691
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
NM_004168.4(SDHA):c.1908+10G>A
|
rs1579445450
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
NM_004168.4(SDHA):c.1908+8T>G
|
rs2126641731
|
|
NM_004168.4(SDHA):c.1908+9G>A
|
rs767578208
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
NM_004168.4(SDHA):c.1909-11T>G
|
rs2126645679
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1909-15A>C
|
rs1189118840
|
|
NM_004168.4(SDHA):c.1909-15A>G
|
|
|
NM_004168.4(SDHA):c.1909-16G>A
|
|
|
NM_004168.4(SDHA):c.1909-16_1909-13del
|
rs2126645630
|
|
NM_004168.4(SDHA):c.1909-17T>C
|
|
|
NM_004168.4(SDHA):c.1909-19A>G
|
|
|
NM_004168.4(SDHA):c.1909-19A>T
|
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.1909-20C>A
|
rs1737178548
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
NM_004168.4(SDHA):c.1909-6T>C
|
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
NM_004168.4(SDHA):c.1909-9C>G
|
|
|
NM_004168.4(SDHA):c.1909-9C>T
|
rs2126645687
|
|
NM_004168.4(SDHA):c.1909-9_1909-7del
|
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
NM_004168.4(SDHA):c.1914T>C (p.Thr638=)
|
rs2126645757
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004168.4(SDHA):c.1920A>G (p.Glu640=)
|
rs2126645771
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
NM_004168.4(SDHA):c.1926A>G (p.Arg642=)
|
rs1554002873
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.192A>G (p.Ala64=)
|
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
NM_004168.4(SDHA):c.1935C>A (p.Ile645=)
|
rs762128553
|
|
NM_004168.4(SDHA):c.1935C>T (p.Ile645=)
|
rs762128553
|
|
NM_004168.4(SDHA):c.1938C>T (p.Asp646=)
|
|
|
NM_004168.4(SDHA):c.193G>A (p.Val65Met)
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
NM_004168.4(SDHA):c.1943C>T (p.Thr648Ile)
|
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
NM_004168.4(SDHA):c.1953G>A (p.Glu651=)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
NM_004168.4(SDHA):c.1956T>C (p.Ala652=)
|
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)
|
|
|
NM_004168.4(SDHA):c.195G>A (p.Val65=)
|
rs2126542556
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
NM_004168.4(SDHA):c.1968C>A (p.Thr656=)
|
|
|
NM_004168.4(SDHA):c.1968C>G (p.Thr656=)
|
|
|
NM_004168.4(SDHA):c.1969_1980del (p.Val657_Ala660del)
|
|
|
NM_004168.4(SDHA):c.1971C>A (p.Val657=)
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
NM_004168.4(SDHA):c.1972C>T (p.Pro658Ser)
|
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
NM_004168.4(SDHA):c.1986C>G (p.Arg662=)
|
rs762372686
|
|
NM_004168.4(SDHA):c.1986C>T (p.Arg662=)
|
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
NM_004168.4(SDHA):c.1989C>G (p.Ser663=)
|
rs1554002913
|
|
NM_004168.4(SDHA):c.1989C>T (p.Ser663=)
|
rs1554002913
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1_2del (p.Met1fs)
|
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
NM_004168.4(SDHA):c.201A>G (p.Val67=)
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
NM_004168.4(SDHA):c.210A>G (p.Gly70=)
|
|
|
NM_004168.4(SDHA):c.210dup (p.Gly71fs)
|
rs1553997340
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
NM_004168.4(SDHA):c.216A>G (p.Ala72=)
|
rs1734887844
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
NM_004168.4(SDHA):c.21G>T (p.Leu7=)
|
|
|
NM_004168.4(SDHA):c.220T>C (p.Leu74=)
|
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
NM_004168.4(SDHA):c.221dup (p.Leu74fs)
|
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
NM_004168.4(SDHA):c.240T>C (p.Leu80=)
|
rs2126542884
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.243T>C (p.Ser81=)
|
|
|
NM_004168.4(SDHA):c.243T>G (p.Ser81=)
|
|
|
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
|
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
NM_004168.4(SDHA):c.246G>C (p.Glu82Asp)
|
|
|
NM_004168.4(SDHA):c.249A>C (p.Ala83=)
|
|
|
NM_004168.4(SDHA):c.249A>G (p.Ala83=)
|
rs1560986107
|
|
NM_004168.4(SDHA):c.24G>C (p.Ser8=)
|
rs1060505007
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
NM_004168.4(SDHA):c.251G>C (p.Gly84Ala)
|
|
|
NM_004168.4(SDHA):c.252G>A (p.Gly84=)
|
rs753293451
|
|
NM_004168.4(SDHA):c.252G>C (p.Gly84=)
|
rs753293451
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
NM_004168.4(SDHA):c.256A>C (p.Asn86His)
|
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
NM_004168.4(SDHA):c.261A>C (p.Thr87=)
|
|
|
NM_004168.4(SDHA):c.261A>G (p.Thr87=)
|
rs2126543070
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.264A>G (p.Ala88=)
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
NM_004168.4(SDHA):c.273C>A (p.Thr91=)
|
rs2126543162
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
NM_004168.4(SDHA):c.276G>A (p.Lys92=)
|
rs375298039
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
NM_004168.4(SDHA):c.279G>A (p.Leu93=)
|
rs1579381802
|
|
NM_004168.4(SDHA):c.27G>A (p.Arg9=)
|
rs2126522501
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.285T>C (p.Pro95=)
|
rs2126543225
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
NM_004168.4(SDHA):c.28C>T (p.Leu10=)
|
rs879099314
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
NM_004168.4(SDHA):c.291G>A (p.Arg97=)
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
NM_004168.4(SDHA):c.297C>T (p.His99=)
|
|
|
NM_004168.4(SDHA):c.298A>G (p.Thr100Ala)
|
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.301G>A (p.Val101Ile)
|
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
NM_004168.4(SDHA):c.303T>C (p.Val101=)
|
|
|
NM_004168.4(SDHA):c.303T>G (p.Val101=)
|
rs2126543357
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
NM_004168.4(SDHA):c.306A>G (p.Ala102=)
|
rs2126543388
|
|
NM_004168.4(SDHA):c.306A>T (p.Ala102=)
|
rs2126543388
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.310C>G (p.Gln104Glu)
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311del (p.Gln104fs)
|
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
NM_004168.4(SDHA):c.312+11G>C
|
rs2126543478
|
|
NM_004168.4(SDHA):c.312+12G>A
|
|
|
NM_004168.4(SDHA):c.312+12G>T
|
|
|
NM_004168.4(SDHA):c.312+15C>A
|
rs1180146041
|
|
NM_004168.4(SDHA):c.312+16C>G
|
|
|
NM_004168.4(SDHA):c.312+17C>T
|
rs1734898561
|
|
NM_004168.4(SDHA):c.312+18C>T
|
|
|
NM_004168.4(SDHA):c.312+19A>G
|
|
|
NM_004168.4(SDHA):c.312+19A>T
|
|
|
NM_004168.4(SDHA):c.312+1G>A
|
rs2126543441
|
|
NM_004168.4(SDHA):c.312+20C>A
|
rs111533078
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
NM_004168.4(SDHA):c.312+7G>C
|
rs2126543454
|
|
NM_004168.4(SDHA):c.312+7G>T
|
rs2126543454
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
NM_004168.4(SDHA):c.313-10G>A
|
rs1579383848
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
NM_004168.4(SDHA):c.313-18A>C
|
rs1579383789
|
|
NM_004168.4(SDHA):c.313-3C>T
|
rs1553997584
|
|
NM_004168.4(SDHA):c.313-4C>G
|
rs1368657380
|
|
NM_004168.4(SDHA):c.313-4C>T
|
rs1368657380
|
|
NM_004168.4(SDHA):c.313-6T>C
|
rs1579383890
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
NM_004168.4(SDHA):c.315A>G (p.Gly105=)
|
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
NM_004168.4(SDHA):c.318A>G (p.Gly106=)
|
|
|
NM_004168.4(SDHA):c.318A>T (p.Gly106=)
|
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
NM_004168.4(SDHA):c.31C>T (p.Leu11=)
|
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
|
|
|
NM_004168.4(SDHA):c.327T>C (p.Ala109=)
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
NM_004168.4(SDHA):c.336G>A (p.Gly112=)
|
|
|
NM_004168.4(SDHA):c.336G>C (p.Gly112=)
|
rs375645919
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.339C>T (p.Asn113=)
|
|
|
NM_004168.4(SDHA):c.33G>A (p.Leu11=)
|
|
|
NM_004168.4(SDHA):c.33G>T (p.Leu11=)
|
rs1139423
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
NM_004168.4(SDHA):c.345G>A (p.Glu115=)
|
rs368286780
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
NM_004168.4(SDHA):c.346G>A (p.Glu116Lys)
|
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
NM_004168.4(SDHA):c.348G>A (p.Glu116=)
|
rs2126546824
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
NM_004168.4(SDHA):c.351C>T (p.Asp117=)
|
rs1579384072
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
NM_004168.4(SDHA):c.354C>T (p.Asn118=)
|
rs923803277
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
NM_004168.4(SDHA):c.376A>G (p.Thr126Ala)
|
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
NM_004168.4(SDHA):c.378C>G (p.Thr126=)
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
NM_004168.4(SDHA):c.383A>G (p.Lys128Arg)
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
NM_004168.4(SDHA):c.387C>T (p.Gly129=)
|
|
|
NM_004168.4(SDHA):c.388T>A (p.Ser130Thr)
|
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.39T>C (p.Ala13=)
|
rs2126522607
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.405C>T (p.Asp135=)
|
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
NM_004168.4(SDHA):c.40C>A (p.Arg14=)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
NM_004168.4(SDHA):c.414C>T (p.Ala138=)
|
rs1219265195
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
NM_004168.4(SDHA):c.420C>T (p.His140=)
|
rs747232441
|
|
NM_004168.4(SDHA):c.421T>A (p.Tyr141Asn)
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
NM_004168.4(SDHA):c.429G>T (p.Thr143=)
|
rs906281170
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
NM_004168.4(SDHA):c.433C>T (p.Gln145Ter)
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
NM_004168.4(SDHA):c.441C>A (p.Pro147=)
|
rs201453889
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
NM_004168.4(SDHA):c.444C>G (p.Ala148=)
|
rs367618662
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
NM_004168.4(SDHA):c.447C>A (p.Ala149=)
|
|
|
NM_004168.4(SDHA):c.447C>G (p.Ala149=)
|
rs752187837
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
NM_004168.4(SDHA):c.450G>A (p.Val150=)
|
rs1734965281
|
|
NM_004168.4(SDHA):c.450G>C (p.Val150=)
|
|
|
NM_004168.4(SDHA):c.453C>G (p.Val151=)
|
rs138917116
|
|
NM_004168.4(SDHA):c.453C>T (p.Val151=)
|
rs138917116
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
NM_004168.4(SDHA):c.456+12G>A
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
NM_004168.4(SDHA):c.456+14G>A
|
|
|
NM_004168.4(SDHA):c.456+15G>A
|
rs2126547940
|
|
NM_004168.4(SDHA):c.456+15G>T
|
|
|
NM_004168.4(SDHA):c.456+17T>G
|
|
|
NM_004168.4(SDHA):c.456+18C>T
|
|
|
NM_004168.4(SDHA):c.456+19T>C
|
rs2126547979
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+20G>A
|
|
|
NM_004168.4(SDHA):c.456+22del
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
NM_004168.4(SDHA):c.456+6G>A
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
NM_004168.4(SDHA):c.456+8G>A
|
rs2126547879
|
|
NM_004168.4(SDHA):c.456+9C>G
|
rs200565489
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.457-10T>C
|
|
|
NM_004168.4(SDHA):c.457-11A>T
|
|
|
NM_004168.4(SDHA):c.457-12del
|
rs2126549133
|
|
NM_004168.4(SDHA):c.457-15T>C
|
|
|
NM_004168.4(SDHA):c.457-17G>T
|
|
|
NM_004168.4(SDHA):c.457-18_457-3dup
|
rs1421256041
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
NM_004168.4(SDHA):c.457-7T>C
|
|
|
NM_004168.4(SDHA):c.457-9C>T
|
rs2126549145
|
|
NM_004168.4(SDHA):c.457C>A (p.Leu153Ile)
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
NM_004168.4(SDHA):c.459A>G (p.Leu153=)
|
rs2126549200
|
|
NM_004168.4(SDHA):c.45C>T (p.Arg15=)
|
rs1060505002
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
NM_004168.4(SDHA):c.468T>C (p.Tyr156=)
|
rs989318548
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
NM_004168.4(SDHA):c.46C>T (p.Leu16=)
|
rs1579369903
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
NM_004168.4(SDHA):c.477G>T (p.Pro159=)
|
rs771741537
|
|
NM_004168.4(SDHA):c.480T>C (p.Phe160=)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.481A>G (p.Ser161Gly)
|
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
NM_004168.4(SDHA):c.483C>T (p.Ser161=)
|
rs2126549418
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.485G>A (p.Arg162Lys)
|
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
NM_004168.4(SDHA):c.486A>G (p.Arg162=)
|
rs1479127918
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
NM_004168.4(SDHA):c.48G>A (p.Leu16=)
|
rs2126522691
|
|
NM_004168.4(SDHA):c.48G>C (p.Leu16=)
|
rs2126522691
|
|
NM_004168.4(SDHA):c.492A>G (p.Glu164=)
|
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
NM_004168.4(SDHA):c.498G>A (p.Gly166=)
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
NM_004168.4(SDHA):c.507T>C (p.Tyr169=)
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
NM_004168.4(SDHA):c.50C>T (p.Ala17Val)
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
NM_004168.4(SDHA):c.513T>A (p.Arg171=)
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.525A>G (p.Gly175=)
|
rs2126549734
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
NM_004168.4(SDHA):c.52C>T (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
NM_004168.4(SDHA):c.531C>T (p.Ser177=)
|
rs756351128
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
NM_004168.4(SDHA):c.537G>A (p.Lys179=)
|
rs1207914111
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
NM_004168.4(SDHA):c.540T>C (p.Phe180=)
|
rs2126549842
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
NM_004168.4(SDHA):c.54G>A (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.54G>T (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.556G>A (p.Ala186Thr)
|
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
|
|
|
NM_004168.4(SDHA):c.562C>A (p.Arg188=)
|
rs553257776
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
NM_004168.4(SDHA):c.570C>T (p.Cys190=)
|
rs1060505008
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
NM_004168.4(SDHA):c.573T>C (p.Cys191=)
|
rs765111856
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.57C>T (p.Ala19=)
|
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
NM_004168.4(SDHA):c.582T>C (p.Asp194=)
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.585G>A (p.Arg195=)
|
rs766339992
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
NM_004168.4(SDHA):c.588T>C (p.Thr196=)
|
rs1278276778
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
NM_004168.4(SDHA):c.591C>G (p.Gly197=)
|
|
|
NM_004168.4(SDHA):c.594C>T (p.His198=)
|
rs1579386061
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
NM_004168.4(SDHA):c.596_599del (p.Ser199fs)
|
|
|
NM_004168.4(SDHA):c.597G>T (p.Ser199=)
|
rs141874250
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
NM_004168.4(SDHA):c.603G>A (p.Leu201=)
|
rs2126550482
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
NM_004168.4(SDHA):c.606C>T (p.His202=)
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.60G>A (p.Lys20=)
|
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
NM_004168.4(SDHA):c.612A>G (p.Leu204=)
|
rs1735001336
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.615T>C (p.Tyr205=)
|
rs876658486
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
NM_004168.4(SDHA):c.621+11C>A
|
rs2126550755
|
|
NM_004168.4(SDHA):c.621+11C>T
|
|
|
NM_004168.4(SDHA):c.621+12C>A
|
|
|
NM_004168.4(SDHA):c.621+12C>T
|
|
|
NM_004168.4(SDHA):c.621+13C>T
|
rs2126550780
|
|
NM_004168.4(SDHA):c.621+15G>T
|
|
|
NM_004168.4(SDHA):c.621+17C>T
|
rs2126550811
|
|
NM_004168.4(SDHA):c.621+18C>G
|
|
|
NM_004168.4(SDHA):c.621+18C>T
|
rs1735004595
|
|
NM_004168.4(SDHA):c.621+19A>T
|
rs772849135
|
|
NM_004168.4(SDHA):c.621+1G>A
|
rs1735002961
|
|
NM_004168.4(SDHA):c.621+1G>T
|
|
|
NM_004168.4(SDHA):c.621+20C>T
|
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
NM_004168.4(SDHA):c.621+9G>C
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
NM_004168.4(SDHA):c.621G>C (p.Arg207Ser)
|
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
NM_004168.4(SDHA):c.622-2A>T
|
|
|
NM_004168.4(SDHA):c.622-4T>A
|
|
|
NM_004168.4(SDHA):c.622-4T>C
|
rs1579390820
|
|
NM_004168.4(SDHA):c.622-4T>G
|
|
|
NM_004168.4(SDHA):c.622-5T>C
|
rs878854634
|
|
NM_004168.4(SDHA):c.622-7C>G
|
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
NM_004168.4(SDHA):c.622-7_622-4del
|
rs2126557982
|
|
NM_004168.4(SDHA):c.622-8del
|
rs777777373
|
|
NM_004168.4(SDHA):c.622-9T>G
|
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.63+10T>C
|
rs2126522948
|
|
NM_004168.4(SDHA):c.63+10T>G
|
|
|
NM_004168.4(SDHA):c.63+12C>T
|
|
|
NM_004168.4(SDHA):c.63+13C>G
|
|
|
NM_004168.4(SDHA):c.63+14G>A
|
rs2126522961
|
|
NM_004168.4(SDHA):c.63+15C>A
|
|
|
NM_004168.4(SDHA):c.63+16G>A
|
|
|
NM_004168.4(SDHA):c.63+17G>T
|
|
|
NM_004168.4(SDHA):c.63+18A>G
|
rs2126522991
|
|
NM_004168.4(SDHA):c.63+19C>A
|
rs1553996384
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
NM_004168.4(SDHA):c.63+20C>T
|
rs1734507324
|
|
NM_004168.4(SDHA):c.63+20CGGGG[3]
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
NM_004168.4(SDHA):c.63+7C>T
|
|
|
NM_004168.4(SDHA):c.63+8C>A
|
rs766358430
|
|
NM_004168.4(SDHA):c.63+9G>A
|
rs751401688
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.630A>T (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
NM_004168.4(SDHA):c.639C>T (p.Thr213=)
|
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
NM_004168.4(SDHA):c.63G>T (p.Ala21=)
|
rs587781942
|
|
NM_004168.4(SDHA):c.64-10G>A
|
rs1553997159
|
|
NM_004168.4(SDHA):c.64-10G>C
|
rs1553997159
|
|
NM_004168.4(SDHA):c.64-11T>C
|
rs2126539331
|
|
NM_004168.4(SDHA):c.64-12C>G
|
|
|
NM_004168.4(SDHA):c.64-13T>G
|
rs2126539312
|
|
NM_004168.4(SDHA):c.64-13_64-5del
|
rs1382759501
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
NM_004168.4(SDHA):c.64-17G>A
|
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.64-4C>T
|
|
|
NM_004168.4(SDHA):c.64-7T>C
|
rs1579379588
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
NM_004168.4(SDHA):c.64-8G>T
|
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)
|
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
NM_004168.4(SDHA):c.649dup (p.Val217fs)
|
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
NM_004168.4(SDHA):c.650T>C (p.Val217Ala)
|
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
NM_004168.4(SDHA):c.663C>G (p.Ala221=)
|
rs1579391069
|
|
NM_004168.4(SDHA):c.663C>T (p.Ala221=)
|
rs1579391069
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
NM_004168.4(SDHA):c.666G>A (p.Leu222=)
|
|
|
NM_004168.4(SDHA):c.667G>A (p.Asp223Asn)
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
NM_004168.4(SDHA):c.670C>A (p.Leu224Ile)
|
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
NM_004168.4(SDHA):c.672C>T (p.Leu224=)
|
rs2126558458
|
|
NM_004168.4(SDHA):c.673C>T (p.Leu225=)
|
rs1579391116
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
NM_004168.4(SDHA):c.675G>A (p.Leu225=)
|
rs1367248054
|
|
NM_004168.4(SDHA):c.675G>C (p.Leu225=)
|
rs1367248054
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
NM_004168.4(SDHA):c.687G>C (p.Gly229=)
|
rs775359678
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.691dup (p.Cys231fs)
|
rs1579391225
|
|
NM_004168.4(SDHA):c.692G>T (p.Cys231Phe)
|
|
|
NM_004168.4(SDHA):c.693C>T (p.Cys231=)
|
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
NM_004168.4(SDHA):c.696T>C (p.Arg232=)
|
|
|
NM_004168.4(SDHA):c.696T>G (p.Arg232=)
|
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
NM_004168.4(SDHA):c.69A>G (p.Pro23=)
|
|
|
NM_004168.4(SDHA):c.6G>C (p.Ser2=)
|
rs751383247
|
|
NM_004168.4(SDHA):c.6G>T (p.Ser2=)
|
rs751383247
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
NM_004168.4(SDHA):c.703A>G (p.Ile235Val)
|
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
NM_004168.4(SDHA):c.711G>T (p.Leu237=)
|
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
NM_004168.4(SDHA):c.713G>A (p.Cys238Tyr)
|
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.714C>T (p.Cys238=)
|
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
NM_004168.4(SDHA):c.717A>T (p.Ile239=)
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
NM_004168.4(SDHA):c.720G>A (p.Glu240=)
|
rs1579391431
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.726G>A (p.Gly242=)
|
rs2126559012
|
|
NM_004168.4(SDHA):c.726G>T (p.Gly242=)
|
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
NM_004168.4(SDHA):c.729C>G (p.Ser243=)
|
|
|
NM_004168.4(SDHA):c.72A>C (p.Thr24=)
|
rs2126539424
|
|
NM_004168.4(SDHA):c.72A>G (p.Thr24=)
|
rs2126539424
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
NM_004168.4(SDHA):c.738C>T (p.Arg246=)
|
rs2126559157
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
NM_004168.4(SDHA):c.745G>A (p.Ala249Thr)
|
|
|
NM_004168.4(SDHA):c.747A>G (p.Ala249=)
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
NM_004168.4(SDHA):c.750G>A (p.Lys250=)
|
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
NM_004168.4(SDHA):c.753C>T (p.Asn251=)
|
rs1126411
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
NM_004168.4(SDHA):c.75G>A (p.Val25=)
|
rs774378936
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
NM_004168.4(SDHA):c.768A>C (p.Thr256=)
|
rs2126559341
|
|
NM_004168.4(SDHA):c.768A>T (p.Thr256=)
|
rs2126559341
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
NM_004168.4(SDHA):c.770+10T>G
|
rs1579391739
|
|
NM_004168.4(SDHA):c.770+1147T>G
|
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
NM_004168.4(SDHA):c.770+2T>A
|
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
NM_004168.4(SDHA):c.770+7A>C
|
rs770997653
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004168.4(SDHA):c.771-4C>G
|
rs1360537551
|
|
NM_004168.4(SDHA):c.771-5T>C
|
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
NM_004168.4(SDHA):c.773G>A (p.Gly258Asp)
|
|
|
NM_004168.4(SDHA):c.774C>A (p.Gly258=)
|
rs2126567779
|
|
NM_004168.4(SDHA):c.774C>T (p.Gly258=)
|
rs2126567779
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
|
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
NM_004168.4(SDHA):c.780G>A (p.Gly260=)
|
|
|
NM_004168.4(SDHA):c.783C>T (p.Arg261=)
|
rs1037927856
|
|
NM_004168.4(SDHA):c.785C>A (p.Thr262Asn)
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
NM_004168.4(SDHA):c.786C>T (p.Thr262=)
|
rs1560992315
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
NM_004168.4(SDHA):c.789C>T (p.Tyr263=)
|
rs1553998616
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
NM_004168.4(SDHA):c.792C>T (p.Phe264=)
|
rs1237513803
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
NM_004168.4(SDHA):c.795C>T (p.Ser265=)
|
rs1579397171
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
NM_004168.4(SDHA):c.797G>C (p.Cys266Ser)
|
|
|
NM_004168.4(SDHA):c.798C>T (p.Cys266=)
|
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
NM_004168.4(SDHA):c.804T>A (p.Ser268=)
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
NM_004168.4(SDHA):c.807C>A (p.Ala269=)
|
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
NM_004168.4(SDHA):c.80A>T (p.Gln27Leu)
|
|
|
NM_004168.4(SDHA):c.810C>T (p.His270=)
|
rs1199457341
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
NM_004168.4(SDHA):c.813C>A (p.Thr271=)
|
|
|
NM_004168.4(SDHA):c.814A>G (p.Ser272Gly)
|
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
NM_004168.4(SDHA):c.819T>G (p.Thr273=)
|
|
|
NM_004168.4(SDHA):c.81A>G (p.Gln27=)
|
rs759523671
|
|
NM_004168.4(SDHA):c.822C>A (p.Gly274=)
|
rs34771391
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
NM_004168.4(SDHA):c.828C>A (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.834C>T (p.Ala278=)
|
rs1553998649
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
NM_004168.4(SDHA):c.840C>T (p.Ile280=)
|
|
|
NM_004168.4(SDHA):c.841A>C (p.Thr281Pro)
|
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
NM_004168.4(SDHA):c.846G>A (p.Arg282=)
|
rs1579397464
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
NM_004168.4(SDHA):c.84A>G (p.Thr28=)
|
rs1553997162
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
NM_004168.4(SDHA):c.861C>T (p.Cys287=)
|
|
|
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)
|
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
NM_004168.4(SDHA):c.867C>T (p.Asp289=)
|
|
|
NM_004168.4(SDHA):c.868C>T (p.Leu290=)
|
rs2126568639
|
|
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
NM_004168.4(SDHA):c.873G>A (p.Glu291=)
|
rs570393010
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
NM_004168.4(SDHA):c.876T>C (p.Phe292=)
|
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.882G>A (p.Gln294=)
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
NM_004168.4(SDHA):c.888C>T (p.His296=)
|
rs1553998666
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
NM_004168.4(SDHA):c.891T>G (p.Pro297=)
|
rs1126417
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
NM_004168.4(SDHA):c.895+3A>G
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
NM_004168.4(SDHA):c.895+7C>T
|
|
|
NM_004168.4(SDHA):c.895+9G>A
|
rs1579397653
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
NM_004168.4(SDHA):c.896-5del
|
rs751123858
|
|
NM_004168.4(SDHA):c.896-6T>C
|
|
|
NM_004168.4(SDHA):c.897C>T (p.Gly299=)
|
rs1484385016
|
|
NM_004168.4(SDHA):c.897_1260+1del
|
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
NM_004168.4(SDHA):c.8G>A (p.Gly3Glu)
|
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
NM_004168.4(SDHA):c.90C>G (p.Thr30=)
|
rs2126539545
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
NM_004168.4(SDHA):c.918C>A (p.Leu306=)
|
rs138828792
|
|
NM_004168.4(SDHA):c.918C>T (p.Leu306=)
|
rs138828792
|
|
NM_004168.4(SDHA):c.919A>C (p.Ile307Leu)
|
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
NM_004168.4(SDHA):c.921T>C (p.Ile307=)
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.929G>A (p.Gly310Glu)
|
|
|
NM_004168.4(SDHA):c.930A>C (p.Gly310=)
|
rs1579402124
|
|
NM_004168.4(SDHA):c.933T>C (p.Cys311=)
|
rs764026731
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
NM_004168.4(SDHA):c.936T>C (p.Arg312=)
|
|
|
NM_004168.4(SDHA):c.936T>G (p.Arg312=)
|
rs2126577072
|
|
NM_004168.4(SDHA):c.939A>C (p.Gly313=)
|
rs1579402154
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.942G>A (p.Glu314=)
|
rs1553998977
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.957T>A (p.Ile319=)
|
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
NM_004168.4(SDHA):c.964C>G (p.Gln322Glu)
|
|
|
NM_004168.4(SDHA):c.964C>T (p.Gln322Ter)
|
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
NM_004168.4(SDHA):c.969C>A (p.Gly323=)
|
rs142849100
|
|
NM_004168.4(SDHA):c.969C>G (p.Gly323=)
|
|
|
NM_004168.4(SDHA):c.96T>C (p.Gly32=)
|
rs2126539605
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
NM_004168.4(SDHA):c.976T>A (p.Phe326Ile)
|
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
NM_004168.4(SDHA):c.978T>C (p.Phe326=)
|
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
NM_004168.4(SDHA):c.982G>A (p.Glu328Lys)
|
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
NM_004168.4(SDHA):c.984G>A (p.Glu328=)
|
rs1735555420
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
NM_004168.4(SDHA):c.986G>T (p.Arg329Leu)
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.993C>T (p.Ala331=)
|
rs1424925197
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.996T>C (p.Pro332=)
|
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_004168.4(SDHA):c.997G>T (p.Val333Phe)
|
|
|
NM_004168.4(SDHA):c.999C>A (p.Val333=)
|
|
|
NM_004168.4(SDHA):c.999C>G (p.Val333=)
|
rs149556555
|
|
NM_004168.4(SDHA):c.999C>T (p.Val333=)
|
rs149556555
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
NM_004168.4(SDHA):c.99dup (p.His34fs)
|
|
|
NM_004168.4(SDHA):c.9G>A (p.Gly3=)
|
|
|
NM_004168.4(SDHA):c.9G>C (p.Gly3=)
|
rs1252447154
|
|
NM_004168.4(SDHA):c.9_10dup (p.Val4fs)
|
|
|
NM_004168.4:c.(1260_1261)_(1432_1433)del
|
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)
|
rs1217013970
|
|
NM_004304.5(ALK):c.3098T>A (p.Leu1033His)
|
rs572614173
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004366.6(CLCN2):c.1019A>G (p.Tyr340Cys)
|
|
|
NM_004366.6(CLCN2):c.1042G>A (p.Val348Met)
|
|
|
NM_004366.6(CLCN2):c.1069del (p.Arg357fs)
|
|
|
NM_004366.6(CLCN2):c.1070G>A (p.Arg357His)
|
|
|
NM_004366.6(CLCN2):c.1072T>C (p.Phe358Leu)
|
|
|
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter)
|
rs1553856214
|
|
NM_004366.6(CLCN2):c.1086-3_1086-2dup
|
|
|
NM_004366.6(CLCN2):c.1086-9C>T
|
|
|
NM_004366.6(CLCN2):c.1159A>T (p.Met387Leu)
|
|
|
NM_004366.6(CLCN2):c.1183G>A (p.Glu395Lys)
|
|
|
NM_004366.6(CLCN2):c.1192_1200del (p.Val398_Leu400del)
|
|
|
NM_004366.6(CLCN2):c.119G>A (p.Arg40Gln)
|
|
|
NM_004366.6(CLCN2):c.1229G>T (p.Gly410Val)
|
|
|
NM_004366.6(CLCN2):c.1282C>T (p.Arg428Cys)
|
|
|
NM_004366.6(CLCN2):c.1460C>T (p.Thr487Met)
|
|
|
NM_004366.6(CLCN2):c.1478G>A (p.Arg493Gln)
|
|
|
NM_004366.6(CLCN2):c.1483G>T (p.Val495Leu)
|
|
|
NM_004366.6(CLCN2):c.1510G>T (p.Ala504Ser)
|
|
|
NM_004366.6(CLCN2):c.1543G>C (p.Val515Leu)
|
|
|
NM_004366.6(CLCN2):c.1547C>T (p.Ser516Phe)
|
|
|
NM_004366.6(CLCN2):c.1567G>A (p.Glu523Lys)
|
|
|
NM_004366.6(CLCN2):c.1581G>C (p.Gln527His)
|
|
|
NM_004366.6(CLCN2):c.1627G>A (p.Ala543Thr)
|
|
|
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His)
|
rs1728346222
|
|
NM_004366.6(CLCN2):c.1712GCC[1] (p.Arg572del)
|
|
|
NM_004366.6(CLCN2):c.1714C>T (p.Arg572Cys)
|
|
|
NM_004366.6(CLCN2):c.1721+4C>T
|
|
|
NM_004366.6(CLCN2):c.1721+5G>A
|
|
|
NM_004366.6(CLCN2):c.1735C>T (p.Arg579Cys)
|
|
|
NM_004366.6(CLCN2):c.173C>T (p.Ala58Val)
|
|
|
NM_004366.6(CLCN2):c.1742_1753del (p.Glu581_Met584del)
|
|
|
NM_004366.6(CLCN2):c.1757G>A (p.Arg586Gln)
|
|
|
NM_004366.6(CLCN2):c.1757G>T (p.Arg586Leu)
|
|
|
NM_004366.6(CLCN2):c.1795G>T (p.Asp599Tyr)
|
|
|
NM_004366.6(CLCN2):c.17C>T (p.Ala6Val)
|
|
|
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)
|
|
|
NM_004366.6(CLCN2):c.1856-11G>C
|
rs200595019
|
|
NM_004366.6(CLCN2):c.1856-6G>A
|
|
|
NM_004366.6(CLCN2):c.1884G>A (p.Glu628=)
|
|
|
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
|
|
|
NM_004366.6(CLCN2):c.1896G>A (p.Val632=)
|
|
|
NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr)
|
|
|
NM_004366.6(CLCN2):c.1932C>T (p.Arg644=)
|
|
|
NM_004366.6(CLCN2):c.194del (p.Gly65fs)
|
|
|
NM_004366.6(CLCN2):c.1954C>T (p.Arg652Cys)
|
|
|
NM_004366.6(CLCN2):c.196C>T (p.Arg66Trp)
|
|
|
NM_004366.6(CLCN2):c.1973C>T (p.Ser658Phe)
|
|
|
NM_004366.6(CLCN2):c.197G>A (p.Arg66Gln)
|
|
|
NM_004366.6(CLCN2):c.2003C>T (p.Thr668Ile)
|
|
|
NM_004366.6(CLCN2):c.2029-12del
|
|
|
NM_004366.6(CLCN2):c.2057C>T (p.Ala686Val)
|
|
|
NM_004366.6(CLCN2):c.2068G>A (p.Glu690Lys)
|
|
|
NM_004366.6(CLCN2):c.206G>T (p.Cys69Phe)
|
|
|
NM_004366.6(CLCN2):c.2090C>T (p.Pro697Leu)
|
|
|
NM_004366.6(CLCN2):c.212G>A (p.Arg71Gln)
|
|
|
NM_004366.6(CLCN2):c.2149G>A (p.Ala717Thr)
|
|
|
NM_004366.6(CLCN2):c.2161G>C (p.Gly721Arg)
|
|
|
NM_004366.6(CLCN2):c.2178C>G (p.Ser726Arg)
|
|
|
NM_004366.6(CLCN2):c.217C>T (p.Arg73Cys)
|
|
|
NM_004366.6(CLCN2):c.2186G>A (p.Cys729Tyr)
|
|
|
NM_004366.6(CLCN2):c.2197C>T (p.Pro733Ser)
|
|
|
NM_004366.6(CLCN2):c.220+15G>A
|
|
|
NM_004366.6(CLCN2):c.2200C>T (p.Pro734Ser)
|
|
|
NM_004366.6(CLCN2):c.221-2A>G
|
|
|
NM_004366.6(CLCN2):c.2213C>G (p.Ser738Trp)
|
|
|
NM_004366.6(CLCN2):c.2216A>G (p.Glu739Gly)
|
|
|
NM_004366.6(CLCN2):c.2217+5G>C
|
|
|
NM_004366.6(CLCN2):c.221T>C (p.Val74Ala)
|
|
|
NM_004366.6(CLCN2):c.2278G>T (p.Ala760Ser)
|
|
|
NM_004366.6(CLCN2):c.2310+19C>T
|
|
|
NM_004366.6(CLCN2):c.232C>A (p.Arg78Ser)
|
|
|
NM_004366.6(CLCN2):c.2345C>T (p.Pro782Leu)
|
|
|
NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)
|
|
|
NM_004366.6(CLCN2):c.2398C>T (p.Arg800Trp)
|
|
|
NM_004366.6(CLCN2):c.2399G>A (p.Arg800Gln)
|
|
|
NM_004366.6(CLCN2):c.2415+4_2415+5dup
|
rs146494980
|
|
NM_004366.6(CLCN2):c.2415+6G>A
|
|
|
NM_004366.6(CLCN2):c.2425A>G (p.Ile809Val)
|
|
|
NM_004366.6(CLCN2):c.2502+1G>C
|
|
|
NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)
|
|
|
NM_004366.6(CLCN2):c.254C>T (p.Ser85Phe)
|
|
|
NM_004366.6(CLCN2):c.2558C>A (p.Pro853His)
|
|
|
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)
|
rs1553853557
|
|
NM_004366.6(CLCN2):c.261T>A (p.Val87=)
|
|
|
NM_004366.6(CLCN2):c.273G>C (p.Trp91Cys)
|
|
|
NM_004366.6(CLCN2):c.2T>C (p.Met1Thr)
|
|
|
NM_004366.6(CLCN2):c.371G>A (p.Arg124Gln)
|
|
|
NM_004366.6(CLCN2):c.38G>C (p.Arg13Pro)
|
|
|
NM_004366.6(CLCN2):c.448G>A (p.Gly150Arg)
|
|
|
NM_004366.6(CLCN2):c.459G>C (p.Gln153His)
|
|
|
NM_004366.6(CLCN2):c.482G>C (p.Gly161Ala)
|
|
|
NM_004366.6(CLCN2):c.505A>C (p.Thr169Pro)
|
|
|
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala)
|
rs863225248
|
|
NM_004366.6(CLCN2):c.602C>T (p.Pro201Leu)
|
|
|
NM_004366.6(CLCN2):c.615+8C>T
|
|
|
NM_004366.6(CLCN2):c.629A>G (p.His210Arg)
|
|
|
NM_004366.6(CLCN2):c.63+4A>G
|
|
|
NM_004366.6(CLCN2):c.631A>G (p.Ile211Val)
|
|
|
NM_004366.6(CLCN2):c.633C>G (p.Ile211Met)
|
|
|
NM_004366.6(CLCN2):c.64-1G>A
|
|
|
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys)
|
rs758379595
|
|
NM_004366.6(CLCN2):c.662A>C (p.Lys221Thr)
|
|
|
NM_004366.6(CLCN2):c.666C>A (p.Phe222Leu)
|
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004366.6(CLCN2):c.689A>G (p.Tyr230Cys)
|
|
|
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)
|
rs1085307938
|
|
NM_004366.6(CLCN2):c.727G>A (p.Ala243Thr)
|
|
|
NM_004366.6(CLCN2):c.766A>G (p.Ile256Val)
|
|
|
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn)
|
rs1553857113
|
|
NM_004366.6(CLCN2):c.773-9C>G
|
|
|
NM_004366.6(CLCN2):c.790G>A (p.Glu264Lys)
|
|
|
NM_004366.6(CLCN2):c.812C>T (p.Ala271Val)
|
|
|
NM_004366.6(CLCN2):c.815T>C (p.Val272Ala)
|
|
|
NM_004366.6(CLCN2):c.819G>T (p.Arg273=)
|
|
|
NM_004366.6(CLCN2):c.830G>A (p.Arg277Gln)
|
|
|
NM_004366.6(CLCN2):c.925C>G (p.Arg309Gly)
|
|
|
NM_004366.6(CLCN2):c.95C>A (p.Ala32Asp)
|
|
|
NM_004366.6(CLCN2):c.978C>T (p.Val326=)
|
|
|
NM_004366.6(CLCN2):c.980T>C (p.Ile327Thr)
|
|
|
NM_004366.6(CLCN2):c.992G>C (p.Ser331Thr)
|
|
|
NM_004366.6(CLCN2):c.997T>C (p.Phe333Leu)
|
|
|
NM_004473.4(FOXE1):c.346C>A (p.Arg116Ser)
|
|
|
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)
|
rs71369530
|
|
NM_004473.4(FOXE1):c.608C>G (p.Pro203Arg)
|
|
|
NM_004482.3(GALNT3):c.-346G>A
|
rs1683418237
|
|
NM_004482.3(GALNT3):c.-370_-366delGCCTC
|
rs886055019
|
|
NM_004482.4(GALNT3):c.*308TA[7]
|
rs140333197
|
|
NM_004482.4(GALNT3):c.*806G>A
|
rs1688290292
|
|
NM_004482.4(GALNT3):c.*897T>C
|
rs886055010
|
|
NM_004482.4(GALNT3):c.*934dup
|
rs144647329
|
|
NM_004482.4(GALNT3):c.*937C>T
|
rs886055009
|
|
NM_004482.4(GALNT3):c.-138T>C
|
rs1683412634
|
|
NM_004482.4(GALNT3):c.-191C>A
|
rs1683414225
|
|
NM_004482.4(GALNT3):c.1021T>C (p.Ser341Pro)
|
|
|
NM_004482.4(GALNT3):c.1033C>G (p.His345Asp)
|
|
|
NM_004482.4(GALNT3):c.1051A>G (p.Lys351Glu)
|
|
|
NM_004482.4(GALNT3):c.1074-1G>C
|
|
|
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys)
|
rs137853091
|
|
NM_004482.4(GALNT3):c.1088C>T (p.Ala363Val)
|
|
|
NM_004482.4(GALNT3):c.1112A>G (p.Lys371Arg)
|
|
|
NM_004482.4(GALNT3):c.1156A>G (p.Ile386Val)
|
|
|
NM_004482.4(GALNT3):c.1191A>C (p.Arg397Ser)
|
|
|
NM_004482.4(GALNT3):c.1244A>G (p.His415Arg)
|
|
|
NM_004482.4(GALNT3):c.1268A>G (p.His423Arg)
|
|
|
NM_004482.4(GALNT3):c.1276C>T (p.Pro426Ser)
|
|
|
NM_004482.4(GALNT3):c.1342A>G (p.Lys448Glu)
|
rs1041076405
|
|
NM_004482.4(GALNT3):c.1418G>T (p.Arg473Ile)
|
|
|
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter)
|
rs137853089
|
|
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr)
|
rs886055014
|
|
NM_004482.4(GALNT3):c.1478A>C (p.Tyr493Ser)
|
|
|
NM_004482.4(GALNT3):c.149C>G (p.Ser50Ter)
|
|
|
NM_004482.4(GALNT3):c.1517C>T (p.Ser506Phe)
|
|
|
NM_004482.4(GALNT3):c.1524+1G>A
|
rs745655924
|
|
NM_004482.4(GALNT3):c.1524+2T>G
|
|
|
NM_004482.4(GALNT3):c.1531A>C (p.Ser511Arg)
|
|
|
NM_004482.4(GALNT3):c.1556A>G (p.Asp519Gly)
|
|
|
NM_004482.4(GALNT3):c.1567A>G (p.Asn523Asp)
|
|
|
NM_004482.4(GALNT3):c.1609G>C (p.Gly537Arg)
|
|
|
NM_004482.4(GALNT3):c.1626+1G>A
|
rs760830864
|
|
NM_004482.4(GALNT3):c.1626+6C>T
|
rs774391241
|
|
NM_004482.4(GALNT3):c.1662C>G (p.His554Gln)
|
|
|
NM_004482.4(GALNT3):c.1681T>A (p.Cys561Ser)
|
|
|
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val)
|
rs377579661
|
|
NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)
|
|
|
NM_004482.4(GALNT3):c.170A>G (p.Lys57Arg)
|
|
|
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly)
|
rs267606841
|
|
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile)
|
rs1688323295
|
|
NM_004482.4(GALNT3):c.175A>G (p.Lys59Glu)
|
|
|
NM_004482.4(GALNT3):c.1766G>A (p.Trp589Ter)
|
|
|
NM_004482.4(GALNT3):c.178_179dup (p.Asn60fs)
|
|
|
NM_004482.4(GALNT3):c.1812G>A (p.Met604Ile)
|
|
|
NM_004482.4(GALNT3):c.1846G>T (p.Val616Leu)
|
rs769052242
|
|
NM_004482.4(GALNT3):c.19C>A (p.Leu7Ile)
|
|
|
NM_004482.4(GALNT3):c.209T>C (p.Val70Ala)
|
|
|
NM_004482.4(GALNT3):c.220A>T (p.Lys74Ter)
|
|
|
NM_004482.4(GALNT3):c.230T>C (p.Met77Thr)
|
|
|
NM_004482.4(GALNT3):c.260_266del (p.Arg87fs)
|
|
|
NM_004482.4(GALNT3):c.263A>G (p.Gln88Arg)
|
|
|
NM_004482.4(GALNT3):c.365G>C (p.Gly122Ala)
|
|
|
NM_004482.4(GALNT3):c.367G>T (p.Ala123Ser)
|
|
|
NM_004482.4(GALNT3):c.370T>C (p.Ser124Pro)
|
|
|
NM_004482.4(GALNT3):c.404T>C (p.Val135Ala)
|
|
|
NM_004482.4(GALNT3):c.427C>T (p.Arg143Cys)
|
|
|
NM_004482.4(GALNT3):c.460G>A (p.Ala154Thr)
|
|
|
NM_004482.4(GALNT3):c.460G>T (p.Ala154Ser)
|
|
|
NM_004482.4(GALNT3):c.479T>G (p.Leu160Trp)
|
|
|
NM_004482.4(GALNT3):c.50A>G (p.His17Arg)
|
|
|
NM_004482.4(GALNT3):c.516-2A>G
|
|
|
NM_004482.4(GALNT3):c.539G>A (p.Arg180His)
|
|
|
NM_004482.4(GALNT3):c.544C>T (p.Pro182Ser)
|
|
|
NM_004482.4(GALNT3):c.549C>A (p.Pro183=)
|
rs144776270
|
|
NM_004482.4(GALNT3):c.594G>C (p.Trp198Cys)
|
|
|
NM_004482.4(GALNT3):c.613G>C (p.Val205Leu)
|
|
|
NM_004482.4(GALNT3):c.667G>A (p.Val223Met)
|
rs1688610771
|
|
NM_004482.4(GALNT3):c.677del (p.Ala226fs)
|
rs786205250
|
|
NM_004482.4(GALNT3):c.689-2A>G
|
|
|
NM_004482.4(GALNT3):c.721A>G (p.Lys241Glu)
|
|
|
NM_004482.4(GALNT3):c.734T>C (p.Ile245Thr)
|
|
|
NM_004482.4(GALNT3):c.746_749del (p.Val249fs)
|
|
|
NM_004482.4(GALNT3):c.749_752del (p.Arg250fs)
|
|
|
NM_004482.4(GALNT3):c.773T>G (p.Ile258Ser)
|
|
|
NM_004482.4(GALNT3):c.831T>A (p.Asp277Glu)
|
|
|
NM_004482.4(GALNT3):c.835C>A (p.His279Asn)
|
|
|
NM_004482.4(GALNT3):c.839-11G>T
|
|
|
NM_004482.4(GALNT3):c.874G>A (p.Ala292Thr)
|
|
|
NM_004482.4(GALNT3):c.896C>T (p.Thr299Met)
|
|
|
NM_004482.4(GALNT3):c.897G>T (p.Thr299=)
|
rs75931918
|
|
NM_004482.4(GALNT3):c.904G>T (p.Val302Leu)
|
|
|
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter)
|
rs137853088
|
|
NM_004482.4(GALNT3):c.983G>A (p.Arg328His)
|
|
|
NM_004752.3(GCM2):c.[1136T>A;751C>G]
|
|
|
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
|
|
|
NM_004752.4(GCM2):c.100C>G (p.Leu34Val)
|
|
|
NM_004752.4(GCM2):c.1027G>A (p.Val343Met)
|
|
|
NM_004752.4(GCM2):c.1048C>T (p.Gln350Ter)
|
|
|
NM_004752.4(GCM2):c.1052T>A (p.Phe351Tyr)
|
|
|
NM_004752.4(GCM2):c.1076A>G (p.Tyr359Cys)
|
|
|
NM_004752.4(GCM2):c.1100_1103del (p.Arg367fs)
|
|
|
NM_004752.4(GCM2):c.1111A>G (p.Thr371Ala)
|
|
|
NM_004752.4(GCM2):c.1120C>T (p.Pro374Ser)
|
|
|
NM_004752.4(GCM2):c.1123G>T (p.Gly375Cys)
|
|
|
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)
|
rs2113243235
|
|
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
|
|
|
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)
|
rs551375300
|
|
NM_004752.4(GCM2):c.1187C>A (p.Pro396His)
|
|
|
NM_004752.4(GCM2):c.1216C>T (p.Arg406Ter)
|
|
|
NM_004752.4(GCM2):c.1230C>G (p.Ser410Arg)
|
|
|
NM_004752.4(GCM2):c.1235C>T (p.Ser412Leu)
|
|
|
NM_004752.4(GCM2):c.1245C>A (p.Asn415Lys)
|
|
|
NM_004752.4(GCM2):c.1247A>G (p.Tyr416Cys)
|
|
|
NM_004752.4(GCM2):c.1259A>T (p.Asp420Val)
|
|
|
NM_004752.4(GCM2):c.1277A>G (p.Tyr426Cys)
|
|
|
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu)
|
rs141188465
|
|
NM_004752.4(GCM2):c.1336C>A (p.Pro446Thr)
|
|
|
NM_004752.4(GCM2):c.1343T>A (p.Met448Lys)
|
|
|
NM_004752.4(GCM2):c.1344G>C (p.Met448Ile)
|
|
|
NM_004752.4(GCM2):c.1348A>G (p.Ile450Val)
|
|
|
NM_004752.4(GCM2):c.1352C>T (p.Ala451Val)
|
|
|
NM_004752.4(GCM2):c.1393C>G (p.His465Asp)
|
|
|
NM_004752.4(GCM2):c.1396G>A (p.Glu466Lys)
|
|
|
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)
|
rs537546612
|
|
NM_004752.4(GCM2):c.139C>A (p.Arg47Ser)
|
|
|
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
|
|
|
NM_004752.4(GCM2):c.140G>A (p.Arg47His)
|
|
|
NM_004752.4(GCM2):c.1435G>A (p.Asp479Asn)
|
|
|
NM_004752.4(GCM2):c.1462G>A (p.Ala488Thr)
|
|
|
NM_004752.4(GCM2):c.1469G>T (p.Ser490Ile)
|
|
|
NM_004752.4(GCM2):c.1484T>C (p.Val495Ala)
|
|
|
NM_004752.4(GCM2):c.1505A>T (p.Asn502Ile)
|
|
|
NM_004752.4(GCM2):c.175C>T (p.Arg59Cys)
|
|
|
NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)
|
|
|
NM_004752.4(GCM2):c.1A>G (p.Met1Val)
|
rs2113257238
|
|
NM_004752.4(GCM2):c.22G>A (p.Glu8Lys)
|
|
|
NM_004752.4(GCM2):c.250G>C (p.Val84Leu)
|
|
|
NM_004752.4(GCM2):c.255G>A (p.Val85=)
|
|
|
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu)
|
rs886060981
|
|
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)
|
rs1561672362
|
|
NM_004752.4(GCM2):c.378G>C (p.Glu126Asp)
|
|
|
NM_004752.4(GCM2):c.40T>G (p.Ser14Ala)
|
|
|
NM_004752.4(GCM2):c.443C>T (p.Ala148Val)
|
|
|
NM_004752.4(GCM2):c.484C>T (p.Pro162Ser)
|
|
|
NM_004752.4(GCM2):c.51G>A (p.Met17Ile)
|
|
|
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
|
|
|
NM_004752.4(GCM2):c.52C>A (p.Gln18Lys)
|
|
|
NM_004752.4(GCM2):c.536T>A (p.Met179Lys)
|
|
|
NM_004752.4(GCM2):c.538G>C (p.Ala180Pro)
|
|
|
NM_004752.4(GCM2):c.545T>C (p.Phe182Ser)
|
|
|
NM_004752.4(GCM2):c.547T>C (p.Tyr183His)
|
|
|
NM_004752.4(GCM2):c.554C>T (p.Pro185Leu)
|
|
|
NM_004752.4(GCM2):c.578C>T (p.Ser193Phe)
|
|
|
NM_004752.4(GCM2):c.611A>T (p.His204Leu)
|
|
|
NM_004752.4(GCM2):c.652G>A (p.Asp218Asn)
|
|
|
NM_004752.4(GCM2):c.657A>G (p.Ile219Met)
|
|
|
NM_004752.4(GCM2):c.838C>T (p.Pro280Ser)
|
|
|
NM_004752.4(GCM2):c.845_853dup (p.Asn284_Ser285insTyrThrAsn)
|
|
|
NM_004752.4(GCM2):c.913G>A (p.Val305Ile)
|
|
|
NM_004752.4(GCM2):c.995G>A (p.Gly332Asp)
|
|
|
NM_004795.4(KL):c.*1007T>C
|
rs886050124
|
|
NM_004795.4(KL):c.*1182T>C
|
rs886050125
|
|
NM_004795.4(KL):c.*1509T>G
|
rs886050126
|
|
NM_004795.4(KL):c.*1603C>A
|
rs886050128
|
|
NM_004795.4(KL):c.*1766T>G
|
rs568662502
|
|
NM_004795.4(KL):c.*1870G>A
|
rs1000445864
|
|
NM_004795.4(KL):c.*1950C>A
|
rs886050130
|
|
NM_004795.4(KL):c.*202_*205del
|
rs886050122
|
|
NM_004795.4(KL):c.*203G>T
|
rs763269257
|
|
NM_004795.4(KL):c.*218G>A
|
rs947191941
|
|
NM_004795.4(KL):c.*263A>G
|
rs1872331863
|
|
NM_004795.4(KL):c.*26T>G
|
rs886050120
|
|
NM_004795.4(KL):c.*810G>A
|
rs535918609
|
|
NM_004795.4(KL):c.*93A>C
|
rs1872326031
|
|
NM_004795.4(KL):c.1014C>A (p.Pro338=)
|
rs547049483
|
|
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del)
|
rs777919048
|
|
NM_004795.4(KL):c.1599+14C>G
|
rs886050119
|
|
NM_004795.4(KL):c.1718T>C (p.Val573Ala)
|
rs1872148254
|
|
NM_004795.4(KL):c.1873G>A (p.Glu625Lys)
|
rs150287359
|
|
NM_004795.4(KL):c.191G>A (p.Gly64Asp)
|
rs749006234
|
|
NM_004795.4(KL):c.2226C>T (p.Ser742=)
|
rs201355613
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
NM_004795.4(KL):c.2296G>C (p.Gly766Arg)
|
rs114752661
|
|
NM_004795.4(KL):c.2702-1G>C
|
rs1566510826
|
|
NM_004795.4(KL):c.2702-59dup
|
rs34137141
|
|
NM_004795.4(KL):c.426C>G (p.Leu142=)
|
rs771447026
|
|
NM_004795.4(KL):c.4C>T (p.Pro2Ser)
|
rs1425467064
|
|
NM_004795.4(KL):c.611A>G (p.Tyr204Cys)
|
rs1870383915
|
|
NM_004795.4(KL):c.656A>T (p.Tyr219Phe)
|
rs1870387959
|
|
NM_004795.4(KL):c.721dup (p.Tyr241fs)
|
rs2138184030
|
|
NM_004795.4(KL):c.764C>T (p.Pro255Leu)
|
rs1870396175
|
|
NM_004795.4(KL):c.802G>A (p.Ala268Thr)
|
rs1271557554
|
|
NM_004795.4(KL):c.875G>T (p.Gly292Val)
|
|
|
NM_004795.4(KL):c.974G>T (p.Gly325Val)
|
rs1453773670
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
NM_004985.5(KRAS):c.445A>T (p.Arg149Ter)
|
rs2141505552
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
NM_005343.4(HRAS):c.179G>T (p.Gly60Val)
|
rs730880460
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_005343.4(HRAS):c.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.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_005343.4(HRAS):c.550T>G (p.Cys184Gly)
|
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2046del (p.Val683fs)
|
|
|
NM_005732.4(RAD50):c.2524+1_2524+9del
|
|
|
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)
|
rs1553153748
|
|
NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter)
|
rs1085307084
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)
|
rs1724506239
|
|
NM_006218.4(PIK3CA):c.1189C>T (p.Pro397Ser)
|
|
|
NM_006218.4(PIK3CA):c.1442G>A (p.Ser481Asn)
|
|
|
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met)
|
rs557949672
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1701A>T (p.Lys567Asn)
|
|
|
NM_006218.4(PIK3CA):c.1860A>T (p.Glu620Asp)
|
|
|
NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)
|
|
|
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
|
rs1576943715
|
|
NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)
|
|
|
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.314T>G (p.Val105Gly)
|
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
|
|
|
NM_015965.7(NDUFA13):c.94+1G>A
|
|
|
NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp)
|
rs1455883160
|
|
NM_017654.4(SAMD9):c.132del (p.Val45fs)
|
rs1554337424
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)
|
rs181767582
|
|
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)
|
rs778749748
|
|
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)
|
rs1554337029
|
|
NM_017654.4(SAMD9):c.2641G>A (p.Asp881Asn)
|
|
|
NM_017654.4(SAMD9):c.29del (p.Asn10fs)
|
rs1356051307
|
|
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)
|
rs1554336918
|
|
NM_017654.4(SAMD9):c.3642del (p.Pro1215fs)
|
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)
|
rs1791543423
|
|
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)
|
rs755666547
|
|
NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile)
|
rs978197631
|
|
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)
|
rs121918554
|
|
NM_017654.4(SAMD9):c.95del (p.His32fs)
|
rs1085307093
|
|
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.173G>A (p.Arg58Lys)
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
|
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.267del (p.Phe89fs)
|
rs766035180
|
|
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val)
|
rs373951663
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu)
|
rs1590759653
|
|
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp)
|
rs148425779
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.359A>G (p.Tyr120Cys)
|
rs772928706
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.370+12G>A
|
rs886048415
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro)
|
rs1006514566
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
NM_017841.4(SDHAF2):c.406del (p.Val136fs)
|
|
|
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)
|
rs1862009020
|
|
NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser)
|
rs2134902041
|
|
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
|
|
|
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.115_116del (p.Leu39fs)
|
|
|
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.140C>A (p.Ala47Asp)
|
rs1022275292
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)
|
rs121908817
|
|
NM_017849.4(TMEM127):c.17G>T (p.Gly6Val)
|
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.188G>A (p.Arg63His)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.193del (p.Glu65fs)
|
|
|
NM_017849.4(TMEM127):c.200G>C (p.Gly67Ala)
|
|
|
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.400A>G (p.Ile134Val)
|
|
|
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.449C>G (p.Ala150Gly)
|
|
|
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.496G>A (p.Gly166Arg)
|
rs372120755
|
|
NM_017849.4(TMEM127):c.50G>T (p.Ser17Ile)
|
rs1223613323
|
|
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu)
|
rs758676810
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.534C>A (p.Tyr178Ter)
|
|
|
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.584T>C (p.Leu195Pro)
|
rs1573969123
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.59G>T (p.Gly20Val)
|
|
|
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.700C>G (p.Pro234Ala)
|
rs780992481
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_018180.3(DHX32):c.798T>G (p.Ile266Met)
|
rs2134053360
|
|
NM_020638.3(FGF23):c.*1380TTC[1]
|
rs550329870
|
|
NM_020638.3(FGF23):c.*1548T>G
|
rs762018989
|
|
NM_020638.3(FGF23):c.*278G>C
|
rs886049408
|
|
NM_020638.3(FGF23):c.*28C>G
|
rs886049411
|
|
NM_020638.3(FGF23):c.*337_*340del
|
rs886049407
|
|
NM_020638.3(FGF23):c.*340_*344del
|
rs886049406
|
|
NM_020638.3(FGF23):c.*367_*372del
|
rs58735464
|
|
NM_020638.3(FGF23):c.*368_*373del
|
rs886049403
|
|
NM_020638.3(FGF23):c.*369_*372del
|
rs58735464
|
|
NM_020638.3(FGF23):c.*372_*377del
|
rs886049402
|
|
NM_020638.3(FGF23):c.*460A>T
|
rs775907152
|
|
NM_020638.3(FGF23):c.*664A>T
|
rs886049400
|
|
NM_020638.3(FGF23):c.-111C>T
|
rs1865158291
|
|
NM_020638.3(FGF23):c.-53C>G
|
rs187035769
|
|
NM_020638.3(FGF23):c.-55C>A
|
rs760895385
|
|
NM_020638.3(FGF23):c.133G>A (p.Ala45Thr)
|
|
|
NM_020638.3(FGF23):c.13C>T (p.Arg5Cys)
|
|
|
NM_020638.3(FGF23):c.210_211del (p.Tyr70_Ser71delinsTer)
|
|
|
NM_020638.3(FGF23):c.211+12T>G
|
rs1865152731
|
|
NM_020638.3(FGF23):c.211+1G>A
|
|
|
NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)
|
rs863224872
|
|
NM_020638.3(FGF23):c.277T>C (p.Tyr93His)
|
|
|
NM_020638.3(FGF23):c.287T>C (p.Met96Thr)
|
rs104894343
|
|
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr)
|
rs1865075955
|
|
NM_020638.3(FGF23):c.315+15del
|
rs771309899
|
|
NM_020638.3(FGF23):c.329C>T (p.Pro110Leu)
|
|
|
NM_020638.3(FGF23):c.330G>A (p.Pro110=)
|
|
|
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)
|
rs1220533001
|
|
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)
|
rs1555096583
|
|
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe)
|
rs104894344
|
|
NM_020638.3(FGF23):c.414G>C (p.Leu138=)
|
rs1865054870
|
|
NM_020638.3(FGF23):c.428G>A (p.Arg143Lys)
|
|
|
NM_020638.3(FGF23):c.446T>C (p.Met149Thr)
|
|
|
NM_020638.3(FGF23):c.486C>G (p.Asn162Lys)
|
|
|
NM_020638.3(FGF23):c.529C>A (p.His177Asn)
|
|
|
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)
|
rs193922702
|
|
NM_020638.3(FGF23):c.544G>A (p.Glu182Lys)
|
|
|
NM_020638.3(FGF23):c.550G>A (p.Asp184Asn)
|
|
|
NM_020638.3(FGF23):c.555G>A (p.Ser185=)
|
rs115283398
|
|
NM_020638.3(FGF23):c.555G>C (p.Ser185=)
|
rs115283398
|
|
NM_020638.3(FGF23):c.559C>T (p.Arg187Trp)
|
rs190841442
|
|
NM_020638.3(FGF23):c.60C>T (p.Ser20=)
|
rs763114180
|
|
NM_020638.3(FGF23):c.61G>A (p.Val21Ile)
|
|
|
NM_020638.3(FGF23):c.637G>A (p.Ala213Thr)
|
|
|
NM_020638.3(FGF23):c.640G>A (p.Glu214Lys)
|
|
|
NM_020638.3(FGF23):c.685G>T (p.Gly229Cys)
|
|
|
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp)
|
rs1033823201
|
|
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
|
|
|
NM_020638.3(FGF23):c.706G>C (p.Ala236Pro)
|
|
|
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
|
|
|
NM_020638.3(FGF23):c.742G>A (p.Ala248Thr)
|
|
|
NM_020638.3(FGF23):c.746A>T (p.Lys249Met)
|
|
|
NM_020638.3(FGF23):c.751A>G (p.Ile251Val)
|
|
|
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)
|
rs2035064004
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_020975.4(RET):c.(?_-1)_(*1_?)dup
|
|
|
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
|
|
|
NM_020975.4(RET):c.[2410G>A;2711C>G]
|
|
|
NM_020975.4(RET):c.[2410G>A;2832C>G]
|
|
|
NM_020975.5(RET):c.2731-?_*(1_?)del
|
|
|
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.*5T>C
|
|
|
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.-3G>A
|
|
|
NM_020975.6(RET):c.-4G>T
|
|
|
NM_020975.6(RET):c.1000T>C (p.Trp334Arg)
|
rs2132721114
|
|
NM_020975.6(RET):c.1001G>A (p.Trp334Ter)
|
|
|
NM_020975.6(RET):c.1003C>A (p.Pro335Thr)
|
rs1837782662
|
|
NM_020975.6(RET):c.1003C>G (p.Pro335Ala)
|
|
|
NM_020975.6(RET):c.1007A>G (p.Asn336Ser)
|
|
|
NM_020975.6(RET):c.1008C>T (p.Asn336=)
|
rs144981275
|
|
NM_020975.6(RET):c.1009G>A (p.Glu337Lys)
|
rs1161270866
|
|
NM_020975.6(RET):c.1009G>C (p.Glu337Gln)
|
rs1161270866
|
|
NM_020975.6(RET):c.100G>A (p.Asp34Asn)
|
rs1837613489
|
|
NM_020975.6(RET):c.100G>T (p.Asp34Tyr)
|
rs1837613489
|
|
NM_020975.6(RET):c.1010A>G (p.Glu337Gly)
|
|
|
NM_020975.6(RET):c.1011G>A (p.Glu337=)
|
|
|
NM_020975.6(RET):c.1013C>A (p.Thr338Asn)
|
rs377767433
|
|
NM_020975.6(RET):c.1014C>G (p.Thr338=)
|
|
|
NM_020975.6(RET):c.1014C>T (p.Thr338=)
|
|
|
NM_020975.6(RET):c.1015T>C (p.Ser339Pro)
|
rs1837782901
|
|
NM_020975.6(RET):c.1017G>T (p.Ser339=)
|
rs369810881
|
|
NM_020975.6(RET):c.1019T>C (p.Val340Ala)
|
|
|
NM_020975.6(RET):c.101A>G (p.Asp34Gly)
|
rs2132657310
|
|
NM_020975.6(RET):c.1021C>G (p.Gln341Glu)
|
rs1588867362
|
|
NM_020975.6(RET):c.1027A>C (p.Asn343His)
|
|
|
NM_020975.6(RET):c.1028A>G (p.Asn343Ser)
|
|
|
NM_020975.6(RET):c.102T>C (p.Asp34=)
|
rs1837613563
|
|
NM_020975.6(RET):c.1030G>C (p.Gly344Arg)
|
|
|
NM_020975.6(RET):c.1032C>G (p.Gly344=)
|
|
|
NM_020975.6(RET):c.1034G>A (p.Ser345Asn)
|
|
|
NM_020975.6(RET):c.1035C>T (p.Ser345=)
|
rs2132721753
|
|
NM_020975.6(RET):c.1037T>G (p.Phe346Cys)
|
rs2132721788
|
|
NM_020975.6(RET):c.1038C>G (p.Phe346Leu)
|
rs1240935395
|
|
NM_020975.6(RET):c.1039G>A (p.Val347Met)
|
rs1467660660
|
|
NM_020975.6(RET):c.103G>A (p.Ala35Thr)
|
rs984301854
|
|
NM_020975.6(RET):c.1041G>A (p.Val347=)
|
|
|
NM_020975.6(RET):c.1041G>T (p.Val347=)
|
rs1191152389
|
|
NM_020975.6(RET):c.1044_1051dup (p.Val351fs)
|
|
|
NM_020975.6(RET):c.1046C>A (p.Ala349Glu)
|
|
|
NM_020975.6(RET):c.1046C>G (p.Ala349Gly)
|
rs754859905
|
|
NM_020975.6(RET):c.1049C>T (p.Thr350Ile)
|
rs587778660
|
|
NM_020975.6(RET):c.1052T>C (p.Val351Ala)
|
|
|
NM_020975.6(RET):c.1055A>G (p.His352Arg)
|
rs1131691450
|
|
NM_020975.6(RET):c.1056T>C (p.His352=)
|
|
|
NM_020975.6(RET):c.1057G>T (p.Asp353Tyr)
|
rs1837785429
|
|
NM_020975.6(RET):c.1058A>C (p.Asp353Ala)
|
rs1837785512
|
|
NM_020975.6(RET):c.1061A>G (p.Tyr354Cys)
|
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1063+10G>C
|
|
|
NM_020975.6(RET):c.1063+12T>A
|
|
|
NM_020975.6(RET):c.1063+13G>A
|
|
|
NM_020975.6(RET):c.1063+17G>A
|
|
|
NM_020975.6(RET):c.1063+19A>G
|
|
|
NM_020975.6(RET):c.1063+20del
|
|
|
NM_020975.6(RET):c.1063+6A>G
|
|
|
NM_020975.6(RET):c.1063+6_1063+7del
|
|
|
NM_020975.6(RET):c.1063+6del
|
|
|
NM_020975.6(RET):c.1063+7G>A
|
rs863224425
|
|
NM_020975.6(RET):c.1063A>T (p.Arg355Trp)
|
rs145402131
|
|
NM_020975.6(RET):c.1064-10C>G
|
|
|
NM_020975.6(RET):c.1064-10_1064-9insG
|
rs1837849125
|
|
NM_020975.6(RET):c.1064-12C>T
|
|
|
NM_020975.6(RET):c.1064-13C>T
|
|
|
NM_020975.6(RET):c.1064-16G>A
|
|
|
NM_020975.6(RET):c.1064-17_1064-15del
|
|
|
NM_020975.6(RET):c.1064-3C>T
|
rs1286466592
|
|
NM_020975.6(RET):c.1064-4G>T
|
rs1837849469
|
|
NM_020975.6(RET):c.1064-6C>A
|
rs768878280
|
|
NM_020975.6(RET):c.1064-8A>G
|
|
|
NM_020975.6(RET):c.1064-9T>G
|
|
|
NM_020975.6(RET):c.1064-9delinsGG
|
|
|
NM_020975.6(RET):c.1064G>A (p.Arg355Lys)
|
rs1837849583
|
|
NM_020975.6(RET):c.1065G>T (p.Arg355Ser)
|
|
|
NM_020975.6(RET):c.1066C>A (p.Leu356Met)
|
rs876660102
|
|
NM_020975.6(RET):c.1068G>T (p.Leu356=)
|
|
|
NM_020975.6(RET):c.1069G>A (p.Val357Ile)
|
|
|
NM_020975.6(RET):c.1075A>C (p.Asn359His)
|
|
|
NM_020975.6(RET):c.1076A>C (p.Asn359Thr)
|
|
|
NM_020975.6(RET):c.1076A>G (p.Asn359Ser)
|
|
|
NM_020975.6(RET):c.1076A>T (p.Asn359Ile)
|
rs1204350955
|
|
NM_020975.6(RET):c.1078C>T (p.Arg360Trp)
|
|
|
NM_020975.6(RET):c.1082A>T (p.Asn361Ile)
|
|
|
NM_020975.6(RET):c.1086C>G (p.Leu362=)
|
rs2132743034
|
|
NM_020975.6(RET):c.1087T>C (p.Ser363Pro)
|
|
|
NM_020975.6(RET):c.108C>T (p.Tyr36=)
|
|
|
NM_020975.6(RET):c.1091_1104del (p.Ile364fs)
|
|
|
NM_020975.6(RET):c.1097A>T (p.Glu366Val)
|
|
|
NM_020975.6(RET):c.1098G>C (p.Glu366Asp)
|
rs1362164894
|
|
NM_020975.6(RET):c.1098G>T (p.Glu366Asp)
|
|
|
NM_020975.6(RET):c.10G>A (p.Ala4Thr)
|
rs1837063785
|
|
NM_020975.6(RET):c.1103G>T (p.Arg368Leu)
|
|
|
NM_020975.6(RET):c.1104C>T (p.Arg368=)
|
|
|
NM_020975.6(RET):c.1105A>G (p.Thr369Ala)
|
|
|
NM_020975.6(RET):c.1106C>A (p.Thr369Asn)
|
|
|
NM_020975.6(RET):c.1107C>T (p.Thr369=)
|
rs1837851951
|
|
NM_020975.6(RET):c.1108A>G (p.Met370Val)
|
rs1280159133
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.1111C>G (p.Gln371Glu)
|
rs1242961674
|
|
NM_020975.6(RET):c.1112A>G (p.Gln371Arg)
|
|
|
NM_020975.6(RET):c.1113G>A (p.Gln371=)
|
|
|
NM_020975.6(RET):c.1114C>T (p.Leu372=)
|
rs1588869319
|
|
NM_020975.6(RET):c.1116G>C (p.Leu372=)
|
|
|
NM_020975.6(RET):c.1118C>A (p.Ala373Glu)
|
rs546866208
|
|
NM_020975.6(RET):c.1120G>C (p.Val374Leu)
|
|
|
NM_020975.6(RET):c.1122G>A (p.Val374=)
|
|
|
NM_020975.6(RET):c.1123C>T (p.Leu375=)
|
rs2132744116
|
|
NM_020975.6(RET):c.1125G>T (p.Leu375=)
|
rs1588869346
|
|
NM_020975.6(RET):c.1129A>G (p.Asn377Asp)
|
|
|
NM_020975.6(RET):c.1130A>G (p.Asn377Ser)
|
rs1588869351
|
|
NM_020975.6(RET):c.1131T>C (p.Asn377=)
|
|
|
NM_020975.6(RET):c.1132G>A (p.Asp378Asn)
|
rs2132744359
|
|
NM_020975.6(RET):c.1138G>C (p.Asp380His)
|
|
|
NM_020975.6(RET):c.1139A>C (p.Asp380Ala)
|
rs755400887
|
|
NM_020975.6(RET):c.113A>T (p.Glu38Val)
|
rs1588862401
|
|
NM_020975.6(RET):c.1141T>C (p.Phe381Leu)
|
rs781362020
|
|
NM_020975.6(RET):c.1142T>G (p.Phe381Cys)
|
|
|
NM_020975.6(RET):c.1146G>A (p.Gln382=)
|
rs770637118
|
|
NM_020975.6(RET):c.1147G>A (p.Gly383Ser)
|
|
|
NM_020975.6(RET):c.1148G>A (p.Gly383Asp)
|
|
|
NM_020975.6(RET):c.1149C>A (p.Gly383=)
|
rs1254273557
|
|
NM_020975.6(RET):c.1149C>T (p.Gly383=)
|
|
|
NM_020975.6(RET):c.1151del (p.Pro384fs)
|
rs1837854100
|
|
NM_020975.6(RET):c.1154G>A (p.Gly385Glu)
|
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1158G>C (p.Ala386=)
|
|
|
NM_020975.6(RET):c.1159G>A (p.Gly387Ser)
|
|
|
NM_020975.6(RET):c.1160G>C (p.Gly387Ala)
|
|
|
NM_020975.6(RET):c.1160del (p.Gly387fs)
|
|
|
NM_020975.6(RET):c.1161C>T (p.Gly387=)
|
rs763967472
|
|
NM_020975.6(RET):c.1162G>T (p.Val388Phe)
|
rs776223166
|
|
NM_020975.6(RET):c.1164C>T (p.Val388=)
|
rs1837855415
|
|
NM_020975.6(RET):c.1170G>A (p.Leu390=)
|
rs1588869424
|
|
NM_020975.6(RET):c.1170G>C (p.Leu390Phe)
|
|
|
NM_020975.6(RET):c.1175A>G (p.His392Arg)
|
rs2132745297
|
|
NM_020975.6(RET):c.1176C>T (p.His392=)
|
rs1193035007
|
|
NM_020975.6(RET):c.117G>A (p.Lys39=)
|
|
|
NM_020975.6(RET):c.1182C>A (p.Asn394Lys)
|
|
|
NM_020975.6(RET):c.1188G>C (p.Ser396=)
|
rs758510657
|
|
NM_020975.6(RET):c.1189G>A (p.Val397Met)
|
rs183729115
|
|
NM_020975.6(RET):c.118C>T (p.Leu40=)
|
rs373420806
|
|
NM_020975.6(RET):c.1191G>A (p.Val397=)
|
rs1351206662
|
|
NM_020975.6(RET):c.1193T>C (p.Leu398Pro)
|
|
|
NM_020975.6(RET):c.1193T>G (p.Leu398Arg)
|
|
|
NM_020975.6(RET):c.1194G>A (p.Leu398=)
|
rs1588869481
|
|
NM_020975.6(RET):c.1196C>G (p.Pro399Arg)
|
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
NM_020975.6(RET):c.1197G>C (p.Pro399=)
|
|
|
NM_020975.6(RET):c.1197G>T (p.Pro399=)
|
rs148371113
|
|
NM_020975.6(RET):c.11C>T (p.Ala4Val)
|
rs1837063876
|
|
NM_020975.6(RET):c.1203C>A (p.Ser401Arg)
|
rs781623106
|
|
NM_020975.6(RET):c.1203C>T (p.Ser401=)
|
rs781623106
|
|
NM_020975.6(RET):c.1206G>A (p.Leu402=)
|
|
|
NM_020975.6(RET):c.1207C>T (p.His403Tyr)
|
rs1449633271
|
|
NM_020975.6(RET):c.1209C>T (p.His403=)
|
|
|
NM_020975.6(RET):c.1210C>T (p.Leu404=)
|
rs2132746193
|
|
NM_020975.6(RET):c.1215C>G (p.Pro405=)
|
|
|
NM_020975.6(RET):c.1215C>T (p.Pro405=)
|
rs748588678
|
|
NM_020975.6(RET):c.1216A>C (p.Ser406Arg)
|
|
|
NM_020975.6(RET):c.1218T>C (p.Ser406=)
|
|
|
NM_020975.6(RET):c.1221C>G (p.Thr407=)
|
rs1222385123
|
|
NM_020975.6(RET):c.1222T>C (p.Tyr408His)
|
rs778754580
|
|
NM_020975.6(RET):c.1223A>T (p.Tyr408Phe)
|
rs864622405
|
|
NM_020975.6(RET):c.1225T>A (p.Ser409Thr)
|
|
|
NM_020975.6(RET):c.1225T>G (p.Ser409Ala)
|
|
|
NM_020975.6(RET):c.1226C>A (p.Ser409Tyr)
|
|
|
NM_020975.6(RET):c.1226C>G (p.Ser409Cys)
|
|
|
NM_020975.6(RET):c.1228C>T (p.Leu410Phe)
|
rs1588869546
|
|
NM_020975.6(RET):c.1229T>A (p.Leu410His)
|
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
NM_020975.6(RET):c.1230C>T (p.Leu410=)
|
|
|
NM_020975.6(RET):c.1232C>G (p.Ser411Cys)
|
rs2132746693
|
|
NM_020975.6(RET):c.1236G>C (p.Val412=)
|
rs1060500761
|
|
NM_020975.6(RET):c.1238G>A (p.Ser413Asn)
|
rs1837859435
|
|
NM_020975.6(RET):c.1239C>A (p.Ser413Arg)
|
rs1837859530
|
|
NM_020975.6(RET):c.1239C>T (p.Ser413=)
|
rs1837859530
|
|
NM_020975.6(RET):c.123T>C (p.Tyr41=)
|
rs1588862420
|
|
NM_020975.6(RET):c.1240_1251del (p.Arg415_Arg418del)
|
|
|
NM_020975.6(RET):c.1244G>T (p.Arg415Met)
|
|
|
NM_020975.6(RET):c.1245G>A (p.Arg415=)
|
rs2132746989
|
|
NM_020975.6(RET):c.1249C>G (p.Arg417Gly)
|
rs1478152005
|
|
NM_020975.6(RET):c.124G>A (p.Val42Met)
|
|
|
NM_020975.6(RET):c.124G>T (p.Val42Leu)
|
rs2132658120
|
|
NM_020975.6(RET):c.1250G>C (p.Arg417Pro)
|
|
|
NM_020975.6(RET):c.1252C>T (p.Arg418Ter)
|
rs2132747295
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
NM_020975.6(RET):c.1256T>A (p.Phe419Tyr)
|
rs1588869586
|
|
NM_020975.6(RET):c.1258G>A (p.Ala420Thr)
|
|
|
NM_020975.6(RET):c.1258G>T (p.Ala420Ser)
|
|
|
NM_020975.6(RET):c.1259C>G (p.Ala420Gly)
|
rs1837860722
|
|
NM_020975.6(RET):c.1259C>T (p.Ala420Val)
|
|
|
NM_020975.6(RET):c.1262A>C (p.Gln421Pro)
|
|
|
NM_020975.6(RET):c.1263+12C>A
|
|
|
NM_020975.6(RET):c.1263+12C>T
|
|
|
NM_020975.6(RET):c.1263+15A>G
|
|
|
NM_020975.6(RET):c.1263+18G>A
|
|
|
NM_020975.6(RET):c.1263+20C>T
|
|
|
NM_020975.6(RET):c.1263+3G>A
|
|
|
NM_020975.6(RET):c.1263+6C>T
|
|
|
NM_020975.6(RET):c.1263+7C>G
|
rs1554818384
|
|
NM_020975.6(RET):c.1263+8C>T
|
|
|
NM_020975.6(RET):c.1263+9A>G
|
rs1837861041
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
NM_020975.6(RET):c.1264-11T>C
|
|
|
NM_020975.6(RET):c.1264-12G>A
|
rs370613696
|
|
NM_020975.6(RET):c.1264-12G>C
|
|
|
NM_020975.6(RET):c.1264-13T>C
|
|
|
NM_020975.6(RET):c.1264-14_1264-13del
|
|
|
NM_020975.6(RET):c.1264-15C>T
|
rs781151199
|
|
NM_020975.6(RET):c.1264-20G>C
|
|
|
NM_020975.6(RET):c.1264-20G>T
|
|
|
NM_020975.6(RET):c.1264-3T>C
|
rs2132765385
|
|
NM_020975.6(RET):c.1264-3del
|
rs1837912264
|
|
NM_020975.6(RET):c.1264-4del
|
|
|
NM_020975.6(RET):c.1264-4dup
|
rs1814685980
|
|
NM_020975.6(RET):c.1264-55dup
|
rs193922698
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
NM_020975.6(RET):c.1264-5C>G
|
rs9282835
|
|
NM_020975.6(RET):c.1264-6C>G
|
|
|
NM_020975.6(RET):c.1264-6C>T
|
rs1255010070
|
|
NM_020975.6(RET):c.1264-9C>A
|
|
|
NM_020975.6(RET):c.1267G>A (p.Gly423Arg)
|
rs767601598
|
|
NM_020975.6(RET):c.1267G>T (p.Gly423Trp)
|
|
|
NM_020975.6(RET):c.1268G>A (p.Gly423Glu)
|
|
|
NM_020975.6(RET):c.1269G>A (p.Gly423=)
|
|
|
NM_020975.6(RET):c.1269G>C (p.Gly423=)
|
rs1588870990
|
|
NM_020975.6(RET):c.1273G>A (p.Val425Ile)
|
rs764558748
|
|
NM_020975.6(RET):c.1273G>T (p.Val425Phe)
|
rs764558748
|
|
NM_020975.6(RET):c.1277G>C (p.Cys426Ser)
|
|
|
NM_020975.6(RET):c.1277G>T (p.Cys426Phe)
|
rs1387494484
|
|
NM_020975.6(RET):c.1279G>T (p.Val427Leu)
|
rs1356436038
|
|
NM_020975.6(RET):c.1280T>C (p.Val427Ala)
|
|
|
NM_020975.6(RET):c.1283A>G (p.Glu428Gly)
|
rs2132766146
|
|
NM_020975.6(RET):c.1284A>G (p.Glu428=)
|
rs757632555
|
|
NM_020975.6(RET):c.1285A>G (p.Asn429Asp)
|
|
|
NM_020975.6(RET):c.1285A>T (p.Asn429Tyr)
|
rs779625196
|
|
NM_020975.6(RET):c.1289G>T (p.Cys430Phe)
|
|
|
NM_020975.6(RET):c.1294G>A (p.Ala432Thr)
|
rs780630024
|
|
NM_020975.6(RET):c.1294G>T (p.Ala432Ser)
|
|
|
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
|
|
|
NM_020975.6(RET):c.1295_1296delinsAG (p.Ala432Glu)
|
rs386743165
|
|
NM_020975.6(RET):c.1295_1296delinsGG (p.Ala432Gly)
|
rs386743165
|
|
NM_020975.6(RET):c.1295_1296inv (p.Ala432Val)
|
|
|
NM_020975.6(RET):c.1299C>G (p.Phe433Leu)
|
rs1554818526
|
|
NM_020975.6(RET):c.129C>G (p.Asp43Glu)
|
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1301G>A (p.Ser434Asn)
|
|
|
NM_020975.6(RET):c.1303G>A (p.Gly435Ser)
|
|
|
NM_020975.6(RET):c.1305C>G (p.Gly435=)
|
|
|
NM_020975.6(RET):c.1308C>T (p.Ile436=)
|
rs1053415087
|
|
NM_020975.6(RET):c.1310A>C (p.Asn437Thr)
|
|
|
NM_020975.6(RET):c.1310A>G (p.Asn437Ser)
|
rs1260532632
|
|
NM_020975.6(RET):c.1311C>T (p.Asn437=)
|
rs1190189942
|
|
NM_020975.6(RET):c.1312G>T (p.Val438Phe)
|
|
|
NM_020975.6(RET):c.1314C>G (p.Val438=)
|
|
|
NM_020975.6(RET):c.1314C>T (p.Val438=)
|
rs1588871110
|
|
NM_020975.6(RET):c.1315C>T (p.Gln439Ter)
|
rs2132767341
|
|
NM_020975.6(RET):c.1317G>A (p.Gln439=)
|
|
|
NM_020975.6(RET):c.1317G>C (p.Gln439His)
|
|
|
NM_020975.6(RET):c.1323G>A (p.Lys441=)
|
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1327C>T (p.His443Tyr)
|
rs772292843
|
|
NM_020975.6(RET):c.1328A>T (p.His443Leu)
|
rs2132767831
|
|
NM_020975.6(RET):c.1329T>C (p.His443=)
|
rs2132767896
|
|
NM_020975.6(RET):c.132G>C (p.Gln44His)
|
rs2132658453
|
|
NM_020975.6(RET):c.1330T>C (p.Ser444Pro)
|
|
|
NM_020975.6(RET):c.1334C>G (p.Ser445Cys)
|
|
|
NM_020975.6(RET):c.1335T>A (p.Ser445=)
|
|
|
NM_020975.6(RET):c.1335T>C (p.Ser445=)
|
rs1554818529
|
|
NM_020975.6(RET):c.1336G>A (p.Gly446Ser)
|
|
|
NM_020975.6(RET):c.1338T>C (p.Gly446=)
|
rs2132768199
|
|
NM_020975.6(RET):c.1339G>A (p.Ala447Thr)
|
rs2132768249
|
|
NM_020975.6(RET):c.133G>A (p.Ala45Thr)
|
rs2132658488
|
|
NM_020975.6(RET):c.1340C>A (p.Ala447Asp)
|
rs1588871155
|
|
NM_020975.6(RET):c.1341del (p.Asn448fs)
|
|
|
NM_020975.6(RET):c.1345T>C (p.Cys449Arg)
|
rs1158236145
|
|
NM_020975.6(RET):c.1347C>A (p.Cys449Ter)
|
|
|
NM_020975.6(RET):c.1347C>T (p.Cys449=)
|
rs2132768560
|
|
NM_020975.6(RET):c.1348A>G (p.Ser450Gly)
|
rs1837916996
|
|
NM_020975.6(RET):c.1349G>A (p.Ser450Asn)
|
|
|
NM_020975.6(RET):c.134C>A (p.Ala45Glu)
|
rs763526874
|
|
NM_020975.6(RET):c.1353G>A (p.Thr451=)
|
rs201568301
|
|
NM_020975.6(RET):c.1356A>G (p.Leu452=)
|
rs1588871179
|
|
NM_020975.6(RET):c.1358G>C (p.Gly453Ala)
|
rs1837917640
|
|
NM_020975.6(RET):c.1359G>C (p.Gly453=)
|
rs1588871195
|
|
NM_020975.6(RET):c.135A>T (p.Ala45=)
|
rs1800858
|
|
NM_020975.6(RET):c.135_136delinsGT (p.Ala46Ser)
|
|
|
NM_020975.6(RET):c.1360G>A (p.Val454Met)
|
|
|
NM_020975.6(RET):c.1360G>C (p.Val454Leu)
|
|
|
NM_020975.6(RET):c.1361T>C (p.Val454Ala)
|
|
|
NM_020975.6(RET):c.1362G>T (p.Val454=)
|
rs35717926
|
|
NM_020975.6(RET):c.1363G>T (p.Val455Phe)
|
|
|
NM_020975.6(RET):c.1365C>T (p.Val455=)
|
|
|
NM_020975.6(RET):c.1366A>G (p.Thr456Ala)
|
|
|
NM_020975.6(RET):c.1367C>G (p.Thr456Ser)
|
rs1286634866
|
|
NM_020975.6(RET):c.1368C>T (p.Thr456=)
|
|
|
NM_020975.6(RET):c.136G>T (p.Ala46Ser)
|
rs1419255561
|
|
NM_020975.6(RET):c.1370C>T (p.Ser457Leu)
|
rs1837918176
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
NM_020975.6(RET):c.1375G>C (p.Glu459Gln)
|
|
|
NM_020975.6(RET):c.1377G>T (p.Glu459Asp)
|
rs1564494424
|
|
NM_020975.6(RET):c.137C>T (p.Ala46Val)
|
rs1837615394
|
|
NM_020975.6(RET):c.1380C>T (p.Asp460=)
|
rs2132769875
|
|
NM_020975.6(RET):c.1383C>T (p.Thr461=)
|
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
NM_020975.6(RET):c.1389G>A (p.Gly463=)
|
|
|
NM_020975.6(RET):c.1390A>T (p.Ile464Phe)
|
|
|
NM_020975.6(RET):c.1398T>C (p.Phe466=)
|
|
|
NM_020975.6(RET):c.13A>G (p.Thr5Ala)
|
|
|
NM_020975.6(RET):c.1402A>G (p.Asn468Asp)
|
rs1554818536
|
|
NM_020975.6(RET):c.1403A>G (p.Asn468Ser)
|
rs1467587616
|
|
NM_020975.6(RET):c.1404T>C (p.Asn468=)
|
rs864622112
|
|
NM_020975.6(RET):c.1405G>A (p.Asp469Asn)
|
rs772489699
|
|
NM_020975.6(RET):c.1405G>T (p.Asp469Tyr)
|
rs772489699
|
|
NM_020975.6(RET):c.1406A>G (p.Asp469Gly)
|
rs1588871253
|
|
NM_020975.6(RET):c.1406A>T (p.Asp469Val)
|
rs1588871253
|
|
NM_020975.6(RET):c.1407C>G (p.Asp469Glu)
|
rs1357302036
|
|
NM_020975.6(RET):c.1407C>T (p.Asp469=)
|
rs1357302036
|
|
NM_020975.6(RET):c.1408A>G (p.Thr470Ala)
|
|
|
NM_020975.6(RET):c.1409C>T (p.Thr470Ile)
|
rs925104163
|
|
NM_020975.6(RET):c.1410C>G (p.Thr470=)
|
rs2132771143
|
|
NM_020975.6(RET):c.1410C>T (p.Thr470=)
|
rs2132771143
|
|
NM_020975.6(RET):c.1412A>C (p.Lys471Thr)
|
rs2132771245
|
|
NM_020975.6(RET):c.1413G>A (p.Lys471=)
|
rs1588871281
|
|
NM_020975.6(RET):c.1414G>A (p.Ala472Thr)
|
rs1253227059
|
|
NM_020975.6(RET):c.1416C>G (p.Ala472=)
|
rs1564494451
|
|
NM_020975.6(RET):c.1416C>T (p.Ala472=)
|
rs1564494451
|
|
NM_020975.6(RET):c.1417C>T (p.Leu473=)
|
rs1419101284
|
|
NM_020975.6(RET):c.1420C>G (p.Arg474Gly)
|
rs775842917
|
|
NM_020975.6(RET):c.1422G>A (p.Arg474=)
|
|
|
NM_020975.6(RET):c.1422G>T (p.Arg474=)
|
rs2132771819
|
|
NM_020975.6(RET):c.1423C>A (p.Arg475=)
|
|
|
NM_020975.6(RET):c.1425G>A (p.Arg475=)
|
rs2132772107
|
|
NM_020975.6(RET):c.1427C>G (p.Pro476Arg)
|
rs762335805
|
|
NM_020975.6(RET):c.1427C>T (p.Pro476Leu)
|
rs762335805
|
|
NM_020975.6(RET):c.1430A>C (p.Lys477Thr)
|
|
|
NM_020975.6(RET):c.1432T>C (p.Cys478Arg)
|
rs1837921298
|
|
NM_020975.6(RET):c.1433G>A (p.Cys478Tyr)
|
rs1459885382
|
|
NM_020975.6(RET):c.1437C>A (p.Ala479=)
|
rs576806356
|
|
NM_020975.6(RET):c.1437C>G (p.Ala479=)
|
|
|
NM_020975.6(RET):c.143C>T (p.Thr48Met)
|
rs1427186016
|
|
NM_020975.6(RET):c.1440A>C (p.Glu480Asp)
|
rs763296134
|
|
NM_020975.6(RET):c.1444C>T (p.His482Tyr)
|
rs2132773139
|
|
NM_020975.6(RET):c.1445A>G (p.His482Arg)
|
rs876659821
|
|
NM_020975.6(RET):c.1447T>C (p.Tyr483His)
|
|
|
NM_020975.6(RET):c.144G>T (p.Thr48=)
|
rs759872307
|
|
NM_020975.6(RET):c.1450A>C (p.Met484Leu)
|
rs755660496
|
|
NM_020975.6(RET):c.1450A>G (p.Met484Val)
|
rs755660496
|
|
NM_020975.6(RET):c.1450A>T (p.Met484Leu)
|
rs755660496
|
|
NM_020975.6(RET):c.1451T>C (p.Met484Thr)
|
|
|
NM_020975.6(RET):c.1452G>C (p.Met484Ile)
|
|
|
NM_020975.6(RET):c.1453G>T (p.Val485Leu)
|
|
|
NM_020975.6(RET):c.1456G>A (p.Val486Met)
|
rs1588871361
|
|
NM_020975.6(RET):c.1456G>T (p.Val486Leu)
|
rs1588871361
|
|
NM_020975.6(RET):c.1458G>A (p.Val486=)
|
rs2132774203
|
|
NM_020975.6(RET):c.1460C>G (p.Ala487Gly)
|
rs1837922418
|
|
NM_020975.6(RET):c.1460C>T (p.Ala487Val)
|
rs1837922418
|
|
NM_020975.6(RET):c.1461C>T (p.Ala487=)
|
|
|
NM_020975.6(RET):c.1462A>G (p.Thr488Ala)
|
rs753733901
|
|
NM_020975.6(RET):c.1463C>A (p.Thr488Asn)
|
|
|
NM_020975.6(RET):c.1463C>G (p.Thr488Ser)
|
|
|
NM_020975.6(RET):c.1464C>A (p.Thr488=)
|
rs921948385
|
|
NM_020975.6(RET):c.1466A>T (p.Asp489Val)
|
rs923351888
|
|
NM_020975.6(RET):c.1467C>A (p.Asp489Glu)
|
rs372648203
|
|
NM_020975.6(RET):c.1467C>G (p.Asp489Glu)
|
rs372648203
|
|
NM_020975.6(RET):c.1467C>T (p.Asp489=)
|
|
|
NM_020975.6(RET):c.1468C>A (p.Gln490Lys)
|
rs1588871393
|
|
NM_020975.6(RET):c.1468C>G (p.Gln490Glu)
|
rs1588871393
|
|
NM_020975.6(RET):c.1469A>G (p.Gln490Arg)
|
rs750291418
|
|
NM_020975.6(RET):c.1470G>A (p.Gln490=)
|
rs1564494516
|
|
NM_020975.6(RET):c.1471C>T (p.Gln491Ter)
|
rs1397494237
|
|
NM_020975.6(RET):c.1472A>G (p.Gln491Arg)
|
|
|
NM_020975.6(RET):c.1477T>C (p.Ser493Pro)
|
rs780467203
|
|
NM_020975.6(RET):c.1477T>G (p.Ser493Ala)
|
|
|
NM_020975.6(RET):c.1479T>C (p.Ser493=)
|
rs2132775475
|
|
NM_020975.6(RET):c.147C>G (p.Pro49=)
|
rs1219548567
|
|
NM_020975.6(RET):c.1480A>T (p.Arg494Trp)
|
rs1837924019
|
|
NM_020975.6(RET):c.1481G>A (p.Arg494Lys)
|
|
|
NM_020975.6(RET):c.1482G>A (p.Arg494=)
|
|
|
NM_020975.6(RET):c.1483C>A (p.Gln495Lys)
|
|
|
NM_020975.6(RET):c.1483C>G (p.Gln495Glu)
|
|
|
NM_020975.6(RET):c.1484A>G (p.Gln495Arg)
|
rs1474283003
|
|
NM_020975.6(RET):c.1486G>A (p.Ala496Thr)
|
rs1172578380
|
|
NM_020975.6(RET):c.1486G>T (p.Ala496Ser)
|
|
|
NM_020975.6(RET):c.1486GCCCAG[3] (p.Gln499_Leu500insAlaGln)
|
|
|
NM_020975.6(RET):c.1487C>T (p.Ala496Val)
|
rs1356271817
|
|
NM_020975.6(RET):c.1488C>T (p.Ala496=)
|
rs747196645
|
|
NM_020975.6(RET):c.1491G>C (p.Gln497His)
|
|
|
NM_020975.6(RET):c.1492G>A (p.Ala498Thr)
|
|
|
NM_020975.6(RET):c.1493C>G (p.Ala498Gly)
|
rs375677628
|
|
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
|
|
|
NM_020975.6(RET):c.14C>G (p.Thr5Arg)
|
rs1444096302
|
|
NM_020975.6(RET):c.14C>T (p.Thr5Met)
|
rs1444096302
|
|
NM_020975.6(RET):c.1500G>T (p.Leu500=)
|
rs1588871441
|
|
NM_020975.6(RET):c.1501C>T (p.Leu501Phe)
|
rs199572076
|
|
NM_020975.6(RET):c.1504G>C (p.Val502Leu)
|
rs770395347
|
|
NM_020975.6(RET):c.1504G>T (p.Val502Leu)
|
|
|
NM_020975.6(RET):c.1507A>G (p.Thr503Ala)
|
|
|
NM_020975.6(RET):c.1509A>C (p.Thr503=)
|
|
|
NM_020975.6(RET):c.1509A>T (p.Thr503=)
|
rs1837925419
|
|
NM_020975.6(RET):c.1510G>T (p.Val504Leu)
|
|
|
NM_020975.6(RET):c.1511T>C (p.Val504Ala)
|
rs1837925624
|
|
NM_020975.6(RET):c.1512G>A (p.Val504=)
|
|
|
NM_020975.6(RET):c.1513G>A (p.Glu505Lys)
|
rs1837925799
|
|
NM_020975.6(RET):c.1514A>T (p.Glu505Val)
|
rs1837925886
|
|
NM_020975.6(RET):c.1516G>A (p.Gly506Arg)
|
rs763356763
|
|
NM_020975.6(RET):c.1517G>A (p.Gly506Glu)
|
|
|
NM_020975.6(RET):c.1517G>C (p.Gly506Ala)
|
|
|
NM_020975.6(RET):c.1518G>C (p.Gly506=)
|
|
|
NM_020975.6(RET):c.1518G>T (p.Gly506=)
|
|
|
NM_020975.6(RET):c.1519T>A (p.Ser507Thr)
|
rs1588871498
|
|
NM_020975.6(RET):c.1521A>C (p.Ser507=)
|
|
|
NM_020975.6(RET):c.1521A>G (p.Ser507=)
|
rs876660561
|
|
NM_020975.6(RET):c.1522+10T>C
|
rs1060504030
|
|
NM_020975.6(RET):c.1522+13T>A
|
|
|
NM_020975.6(RET):c.1522+14C>A
|
|
|
NM_020975.6(RET):c.1522+14C>G
|
rs1837926900
|
|
NM_020975.6(RET):c.1522+16A>G
|
|
|
NM_020975.6(RET):c.1522+16A>T
|
|
|
NM_020975.6(RET):c.1522+17G>C
|
|
|
NM_020975.6(RET):c.1522+17G>T
|
|
|
NM_020975.6(RET):c.1522+19G>A
|
|
|
NM_020975.6(RET):c.1522+2T>C
|
rs2132777891
|
|
NM_020975.6(RET):c.1522+5G>A
|
|
|
NM_020975.6(RET):c.1522+7G>A
|
rs1257123535
|
|
NM_020975.6(RET):c.1522+7G>T
|
rs1257123535
|
|
NM_020975.6(RET):c.1523-12T>C
|
rs1429462039
|
|
NM_020975.6(RET):c.1523-12T>G
|
rs1429462039
|
|
NM_020975.6(RET):c.1523-14T>C
|
|
|
NM_020975.6(RET):c.1523-19G>A
|
|
|
NM_020975.6(RET):c.1523-20T>C
|
|
|
NM_020975.6(RET):c.1523-4G>A
|
rs1554818618
|
|
NM_020975.6(RET):c.1523-6C>T
|
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1523A>T (p.Tyr508Phe)
|
|
|
NM_020975.6(RET):c.1524T>C (p.Tyr508=)
|
|
|
NM_020975.6(RET):c.1527G>T (p.Val509=)
|
|
|
NM_020975.6(RET):c.1533G>T (p.Glu511Asp)
|
rs1588872048
|
|
NM_020975.6(RET):c.1536G>A (p.Glu512=)
|
|
|
NM_020975.6(RET):c.1537G>A (p.Ala513Thr)
|
rs1837949233
|
|
NM_020975.6(RET):c.1538C>T (p.Ala513Val)
|
rs149238501
|
|
NM_020975.6(RET):c.153G>A (p.Leu51=)
|
rs1837615966
|
|
NM_020975.6(RET):c.153G>C (p.Leu51=)
|
|
|
NM_020975.6(RET):c.1540G>A (p.Gly514Ser)
|
|
|
NM_020975.6(RET):c.1541G>A (p.Gly514Asp)
|
|
|
NM_020975.6(RET):c.1544G>A (p.Cys515Tyr)
|
|
|
NM_020975.6(RET):c.1544G>C (p.Cys515Ser)
|
|
|
NM_020975.6(RET):c.1546C>A (p.Pro516Thr)
|
rs1588872077
|
|
NM_020975.6(RET):c.1546C>G (p.Pro516Ala)
|
|
|
NM_020975.6(RET):c.1546C>T (p.Pro516Ser)
|
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1549C>A (p.Leu517Met)
|
|
|
NM_020975.6(RET):c.1549C>G (p.Leu517Val)
|
rs764616982
|
|
NM_020975.6(RET):c.1550T>G (p.Leu517Arg)
|
|
|
NM_020975.6(RET):c.1551G>A (p.Leu517=)
|
rs750411593
|
|
NM_020975.6(RET):c.1553C>A (p.Ser518Tyr)
|
rs2132797325
|
|
NM_020975.6(RET):c.1553C>T (p.Ser518Phe)
|
rs2132797325
|
|
NM_020975.6(RET):c.1554C>G (p.Ser518=)
|
|
|
NM_020975.6(RET):c.1554C>T (p.Ser518=)
|
|
|
NM_020975.6(RET):c.1557T>C (p.Cys519=)
|
rs2132797536
|
|
NM_020975.6(RET):c.1562T>C (p.Val521Ala)
|
rs1837950711
|
|
NM_020975.6(RET):c.1564A>T (p.Ser522Cys)
|
rs1837950789
|
|
NM_020975.6(RET):c.1565G>A (p.Ser522Asn)
|
|
|
NM_020975.6(RET):c.1567A>C (p.Lys523Gln)
|
rs766278774
|
|
NM_020975.6(RET):c.1568A>G (p.Lys523Arg)
|
rs1588872122
|
|
NM_020975.6(RET):c.1569G>A (p.Lys523=)
|
rs751464792
|
|
NM_020975.6(RET):c.1569G>T (p.Lys523Asn)
|
|
|
NM_020975.6(RET):c.1571G>A (p.Arg524Lys)
|
|
|
NM_020975.6(RET):c.1573C>G (p.Arg525Gly)
|
rs545625150
|
|
NM_020975.6(RET):c.1574G>T (p.Arg525Leu)
|
|
|
NM_020975.6(RET):c.1577T>A (p.Leu526Gln)
|
rs756248937
|
|
NM_020975.6(RET):c.1577T>C (p.Leu526Pro)
|
rs756248937
|
|
NM_020975.6(RET):c.1578G>A (p.Leu526=)
|
|
|
NM_020975.6(RET):c.1579G>A (p.Glu527Lys)
|
rs1837951863
|
|
NM_020975.6(RET):c.1580A>C (p.Glu527Ala)
|
rs1588872141
|
|
NM_020975.6(RET):c.1580A>T (p.Glu527Val)
|
|
|
NM_020975.6(RET):c.1581G>A (p.Glu527=)
|
|
|
NM_020975.6(RET):c.1581G>C (p.Glu527Asp)
|
rs2132799116
|
|
NM_020975.6(RET):c.1584T>C (p.Cys528=)
|
rs1588872149
|
|
NM_020975.6(RET):c.1585G>A (p.Glu529Lys)
|
|
|
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)
|
rs377767434
|
|
NM_020975.6(RET):c.1590G>A (p.Glu530=)
|
rs1226909381
|
|
NM_020975.6(RET):c.1591T>C (p.Cys531Arg)
|
rs377767390
|
|
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)
|
|
|
NM_020975.6(RET):c.1592G>T (p.Cys531Phe)
|
|
|
NM_020975.6(RET):c.1594G>A (p.Gly532Ser)
|
rs1837952811
|
|
NM_020975.6(RET):c.1596C>A (p.Gly532=)
|
rs144460361
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1598G>C (p.Gly533Ala)
|
|
|
NM_020975.6(RET):c.1599C>T (p.Gly533=)
|
|
|
NM_020975.6(RET):c.159C>G (p.Val53=)
|
|
|
NM_020975.6(RET):c.15G>A (p.Thr5=)
|
|
|
NM_020975.6(RET):c.1600C>G (p.Leu534Val)
|
|
|
NM_020975.6(RET):c.1605C>T (p.Gly535=)
|
|
|
NM_020975.6(RET):c.1606_1617del (p.Ser536_Gly539del)
|
|
|
NM_020975.6(RET):c.1609C>T (p.Pro537Ser)
|
rs1438717389
|
|
NM_020975.6(RET):c.160C>T (p.His54Tyr)
|
rs2132659466
|
|
NM_020975.6(RET):c.1610C>T (p.Pro537Leu)
|
|
|
NM_020975.6(RET):c.1612A>G (p.Thr538Ala)
|
|
|
NM_020975.6(RET):c.1614A>G (p.Thr538=)
|
rs1564494925
|
|
NM_020975.6(RET):c.1615G>A (p.Gly539Ser)
|
|
|
NM_020975.6(RET):c.1616G>A (p.Gly539Asp)
|
|
|
NM_020975.6(RET):c.1617C>A (p.Gly539=)
|
rs1554818648
|
|
NM_020975.6(RET):c.1617C>G (p.Gly539=)
|
rs1554818648
|
|
NM_020975.6(RET):c.161A>G (p.His54Arg)
|
rs756858300
|
|
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
|
|
|
NM_020975.6(RET):c.1624G>A (p.Glu542Lys)
|
rs1837954784
|
|
NM_020975.6(RET):c.1624G>C (p.Glu542Gln)
|
|
|
NM_020975.6(RET):c.1626G>A (p.Glu542=)
|
|
|
NM_020975.6(RET):c.162T>C (p.His54=)
|
rs2132659548
|
|
NM_020975.6(RET):c.1631G>A (p.Arg544Lys)
|
rs1837954895
|
|
NM_020975.6(RET):c.1632G>A (p.Arg544=)
|
|
|
NM_020975.6(RET):c.1633C>A (p.Gln545Lys)
|
rs890269439
|
|
NM_020975.6(RET):c.1638A>T (p.Gly546=)
|
rs1412128218
|
|
NM_020975.6(RET):c.1639G>A (p.Asp547Asn)
|
rs1837955355
|
|
NM_020975.6(RET):c.1644C>G (p.Gly548=)
|
|
|
NM_020975.6(RET):c.1646A>G (p.Lys549Arg)
|
rs1837955731
|
|
NM_020975.6(RET):c.1647A>C (p.Lys549Asn)
|
|
|
NM_020975.6(RET):c.1648+10G>A
|
rs762545740
|
|
NM_020975.6(RET):c.1648+14A>G
|
rs1356301733
|
|
NM_020975.6(RET):c.1648+19C>A
|
|
|
NM_020975.6(RET):c.1648+4A>C
|
rs1837955885
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1648+6C>T
|
|
|
NM_020975.6(RET):c.1648+7C>G
|
rs1588872274
|
|
NM_020975.6(RET):c.1648+7C>T
|
rs1588872274
|
|
NM_020975.6(RET):c.1648G>T (p.Gly550Trp)
|
|
|
NM_020975.6(RET):c.1649-10T>C
|
|
|
NM_020975.6(RET):c.1649-11G>C
|
rs746325077
|
|
NM_020975.6(RET):c.1649-11G>T
|
rs746325077
|
|
NM_020975.6(RET):c.1649-13G>A
|
rs1837970784
|
|
NM_020975.6(RET):c.1649-14T>C
|
|
|
NM_020975.6(RET):c.1649-15G>C
|
|
|
NM_020975.6(RET):c.1649-17C>G
|
rs2132812441
|
|
NM_020975.6(RET):c.1649-17C>T
|
rs2132812441
|
|
NM_020975.6(RET):c.1649-20C>A
|
|
|
NM_020975.6(RET):c.1649-20C>T
|
|
|
NM_020975.6(RET):c.1649-4G>T
|
|
|
NM_020975.6(RET):c.1649-5T>C
|
rs876658485
|
|
NM_020975.6(RET):c.1653C>A (p.Ile551=)
|
|
|
NM_020975.6(RET):c.1655C>T (p.Thr552Ile)
|
rs2132813020
|
|
NM_020975.6(RET):c.1658G>A (p.Arg553Lys)
|
rs1837971610
|
|
NM_020975.6(RET):c.165C>G (p.Ala55=)
|
rs778409475
|
|
NM_020975.6(RET):c.1660A>G (p.Asn554Asp)
|
rs1837971699
|
|
NM_020975.6(RET):c.1661A>G (p.Asn554Ser)
|
rs200047805
|
|
NM_020975.6(RET):c.1661A>T (p.Asn554Ile)
|
rs200047805
|
|
NM_020975.6(RET):c.1662C>T (p.Asn554=)
|
rs1253582681
|
|
NM_020975.6(RET):c.1664T>A (p.Phe555Tyr)
|
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1665C>T (p.Phe555=)
|
rs761815073
|
|
NM_020975.6(RET):c.1666T>G (p.Ser556Ala)
|
|
|
NM_020975.6(RET):c.1668C>T (p.Ser556=)
|
rs141771814
|
|
NM_020975.6(RET):c.1671C>A (p.Thr557=)
|
|
|
NM_020975.6(RET):c.1671C>G (p.Thr557=)
|
|
|
NM_020975.6(RET):c.1674C>T (p.Cys558=)
|
rs2132813703
|
|
NM_020975.6(RET):c.1677T>C (p.Ser559=)
|
rs1554818698
|
|
NM_020975.6(RET):c.1678C>G (p.Pro560Ala)
|
|
|
NM_020975.6(RET):c.1681A>G (p.Ser561Gly)
|
|
|
NM_020975.6(RET):c.1681A>T (p.Ser561Cys)
|
rs201972250
|
|
NM_020975.6(RET):c.1682G>A (p.Ser561Asn)
|
|
|
NM_020975.6(RET):c.1684A>C (p.Thr562Pro)
|
rs759342879
|
|
NM_020975.6(RET):c.1684A>T (p.Thr562Ser)
|
rs759342879
|
|
NM_020975.6(RET):c.1685C>T (p.Thr562Ile)
|
|
|
NM_020975.6(RET):c.1687A>G (p.Lys563Glu)
|
rs1387381256
|
|
NM_020975.6(RET):c.1688A>C (p.Lys563Thr)
|
rs863224777
|
|
NM_020975.6(RET):c.1688A>G (p.Lys563Arg)
|
rs863224777
|
|
NM_020975.6(RET):c.1689G>C (p.Lys563Asn)
|
|
|
NM_020975.6(RET):c.1690A>T (p.Thr564Ser)
|
rs1588872756
|
|
NM_020975.6(RET):c.1697C>T (p.Pro566Leu)
|
rs1319956362
|
|
NM_020975.6(RET):c.1698del (p.Asp567fs)
|
|
|
NM_020975.6(RET):c.169C>G (p.Arg57Gly)
|
|
|
NM_020975.6(RET):c.169C>T (p.Arg57Trp)
|
rs876658284
|
|
NM_020975.6(RET):c.16T>C (p.Ser6Pro)
|
rs1588848475
|
|
NM_020975.6(RET):c.16T>G (p.Ser6Ala)
|
rs1588848475
|
|
NM_020975.6(RET):c.1705C>T (p.His569Tyr)
|
rs1258200571
|
|
NM_020975.6(RET):c.1707C>T (p.His569=)
|
rs2132815208
|
|
NM_020975.6(RET):c.172G>A (p.Asp58Asn)
|
rs1321002969
|
|
NM_020975.6(RET):c.1730A>T (p.Asp577Val)
|
rs2132816375
|
|
NM_020975.6(RET):c.1731C>G (p.Asp577Glu)
|
rs1554818709
|
|
NM_020975.6(RET):c.1731C>T (p.Asp577=)
|
rs1554818709
|
|
NM_020975.6(RET):c.1732A>G (p.Ile578Val)
|
rs1837975551
|
|
NM_020975.6(RET):c.1733T>A (p.Ile578Asn)
|
|
|
NM_020975.6(RET):c.1733T>C (p.Ile578Thr)
|
|
|
NM_020975.6(RET):c.1734C>G (p.Ile578Met)
|
rs1564495318
|
|
NM_020975.6(RET):c.1737C>T (p.Asn579=)
|
|
|
NM_020975.6(RET):c.1738A>C (p.Ile580Leu)
|
|
|
NM_020975.6(RET):c.1738A>G (p.Ile580Val)
|
|
|
NM_020975.6(RET):c.1740T>C (p.Ile580=)
|
|
|
NM_020975.6(RET):c.1747C>A (p.Gln583Lys)
|
|
|
NM_020975.6(RET):c.1755C>T (p.Cys585=)
|
|
|
NM_020975.6(RET):c.1757T>A (p.Leu586His)
|
rs2132817593
|
|
NM_020975.6(RET):c.1758C>T (p.Leu586=)
|
rs2132817702
|
|
NM_020975.6(RET):c.1759+10G>A
|
rs770586179
|
|
NM_020975.6(RET):c.1759+10G>C
|
|
|
NM_020975.6(RET):c.1759+12T>C
|
|
|
NM_020975.6(RET):c.1759+16T>C
|
|
|
NM_020975.6(RET):c.1759+17C>G
|
|
|
NM_020975.6(RET):c.1759+17C>T
|
|
|
NM_020975.6(RET):c.1759+19G>T
|
rs2132818296
|
|
NM_020975.6(RET):c.1759+7A>G
|
|
|
NM_020975.6(RET):c.1759+8G>C
|
|
|
NM_020975.6(RET):c.1759C>G (p.Arg587Gly)
|
rs748905470
|
|
NM_020975.6(RET):c.1760-11T>A
|
|
|
NM_020975.6(RET):c.1760-16C>T
|
|
|
NM_020975.6(RET):c.1760-17G>T
|
rs2132825732
|
|
NM_020975.6(RET):c.1760-18G>A
|
rs2132825714
|
|
NM_020975.6(RET):c.1760-19G>A
|
|
|
NM_020975.6(RET):c.1760-20T>G
|
rs766839936
|
|
NM_020975.6(RET):c.1760-6C>G
|
|
|
NM_020975.6(RET):c.1760_1761delinsAA (p.Arg587Gln)
|
|
|
NM_020975.6(RET):c.1762G>A (p.Gly588Ser)
|
|
|
NM_020975.6(RET):c.1763G>A (p.Gly588Asp)
|
|
|
NM_020975.6(RET):c.1763G>T (p.Gly588Val)
|
|
|
NM_020975.6(RET):c.1765A>C (p.Ser589Arg)
|
rs786202597
|
|
NM_020975.6(RET):c.1766G>A (p.Ser589Asn)
|
|
|
NM_020975.6(RET):c.1767C>T (p.Ser589=)
|
|
|
NM_020975.6(RET):c.1769T>C (p.Ile590Thr)
|
rs1348219647
|
|
NM_020975.6(RET):c.176C>T (p.Ala59Val)
|
rs1554817372
|
|
NM_020975.6(RET):c.1777G>A (p.Gly593Arg)
|
rs878855059
|
|
NM_020975.6(RET):c.1778G>C (p.Gly593Ala)
|
|
|
NM_020975.6(RET):c.177C>A (p.Ala59=)
|
rs370622218
|
|
NM_020975.6(RET):c.1780C>T (p.His594Tyr)
|
rs778622905
|
|
NM_020975.6(RET):c.1782C>G (p.His594Gln)
|
|
|
NM_020975.6(RET):c.1783G>A (p.Glu595Lys)
|
rs1483605155
|
|
NM_020975.6(RET):c.1783G>C (p.Glu595Gln)
|
rs1483605155
|
|
NM_020975.6(RET):c.1783G>T (p.Glu595Ter)
|
rs1483605155
|
|
NM_020975.6(RET):c.1785G>T (p.Glu595Asp)
|
rs1204846773
|
|
NM_020975.6(RET):c.178C>A (p.Pro60Thr)
|
rs748402485
|
|
NM_020975.6(RET):c.1791G>A (p.Gly597=)
|
|
|
NM_020975.6(RET):c.1792G>A (p.Glu598Lys)
|
rs2132827786
|
|
NM_020975.6(RET):c.1799G>A (p.Arg600Gln)
|
rs377767393
|
|
NM_020975.6(RET):c.179C>T (p.Pro60Leu)
|
rs1405257965
|
|
NM_020975.6(RET):c.1803G>A (p.Gly601=)
|
rs779889311
|
|
NM_020975.6(RET):c.1804A>T (p.Ile602Phe)
|
rs1837992915
|
|
NM_020975.6(RET):c.1806T>G (p.Ile602Met)
|
|
|
NM_020975.6(RET):c.1807A>C (p.Lys603Gln)
|
rs377767394
|
|
NM_020975.6(RET):c.180T>G (p.Pro60=)
|
rs2132660228
|
|
NM_020975.6(RET):c.1810G>T (p.Ala604Ser)
|
|
|
NM_020975.6(RET):c.1814G>T (p.Gly605Val)
|
rs1031388542
|
|
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)
|
rs377767395
|
|
NM_020975.6(RET):c.181G>A (p.Glu61Lys)
|
|
|
NM_020975.6(RET):c.1820G>T (p.Gly607Val)
|
|
|
NM_020975.6(RET):c.1821C>T (p.Gly607=)
|
rs1837993502
|
|
NM_020975.6(RET):c.1822A>G (p.Thr608Ala)
|
|
|
NM_020975.6(RET):c.1824C>A (p.Thr608=)
|
|
|
NM_020975.6(RET):c.1824C>T (p.Thr608=)
|
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1825T>G (p.Cys609Gly)
|
rs77558292
|
|
NM_020975.6(RET):c.1826G>C (p.Cys609Ser)
|
rs77939446
|
|
NM_020975.6(RET):c.1826G>T (p.Cys609Phe)
|
rs77939446
|
|
NM_020975.6(RET):c.1827C>G (p.Cys609Trp)
|
rs377767396
|
|
NM_020975.6(RET):c.1828A>C (p.Asn610His)
|
rs1837994023
|
|
NM_020975.6(RET):c.1829A>C (p.Asn610Thr)
|
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.182A>C (p.Glu61Ala)
|
rs1564489398
|
|
NM_020975.6(RET):c.1831T>A (p.Cys611Ser)
|
rs377767391
|
|
NM_020975.6(RET):c.1831T>C (p.Cys611Arg)
|
rs377767391
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)
|
rs377767397
|
|
NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)
|
rs377767398
|
|
NM_020975.6(RET):c.1833C>G (p.Cys611Trp)
|
rs80069458
|
|
NM_020975.6(RET):c.1833C>T (p.Cys611=)
|
rs80069458
|
|
NM_020975.6(RET):c.1834T>C (p.Phe612Leu)
|
|
|
NM_020975.6(RET):c.1836C>T (p.Phe612=)
|
|
|
NM_020975.6(RET):c.183G>C (p.Glu61Asp)
|
rs1235890606
|
|
NM_020975.6(RET):c.1840GAG[2] (p.Glu616del)
|
rs377767399
|
|
NM_020975.6(RET):c.1840GAG[4] (p.Glu616_Lys617insGlu)
|
rs377767399
|
|
NM_020975.6(RET):c.1842G>A (p.Glu614=)
|
rs1423361859
|
|
NM_020975.6(RET):c.1843G>A (p.Glu615Lys)
|
rs1837995252
|
|
NM_020975.6(RET):c.1845G>A (p.Glu615=)
|
|
|
NM_020975.6(RET):c.1846G>A (p.Glu616Lys)
|
rs1393753095
|
|
NM_020975.6(RET):c.1846G>C (p.Glu616Gln)
|
rs1393753095
|
|
NM_020975.6(RET):c.1848G>A (p.Glu616=)
|
rs1060504031
|
|
NM_020975.6(RET):c.1850A>G (p.Lys617Arg)
|
|
|
NM_020975.6(RET):c.1850A>T (p.Lys617Met)
|
|
|
NM_020975.6(RET):c.1851G>A (p.Lys617=)
|
rs2132830668
|
|
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>T (p.Cys618Phe)
|
rs79781594
|
|
NM_020975.6(RET):c.1857C>T (p.Phe619=)
|
rs377767401
|
|
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)
|
rs77316810
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1860C>G (p.Cys620Trp)
|
rs79890926
|
|
NM_020975.6(RET):c.1861G>A (p.Glu621Lys)
|
|
|
NM_020975.6(RET):c.1865_1866delinsTT (p.Pro622Leu)
|
rs1837996489
|
|
NM_020975.6(RET):c.1866C>T (p.Pro622=)
|
rs201979255
|
|
NM_020975.6(RET):c.186G>A (p.Glu62=)
|
rs1588862529
|
|
NM_020975.6(RET):c.186G>C (p.Glu62Asp)
|
|
|
NM_020975.6(RET):c.1874T>C (p.Ile625Thr)
|
|
|
NM_020975.6(RET):c.1875C>G (p.Ile625Met)
|
|
|
NM_020975.6(RET):c.1876C>A (p.Gln626Lys)
|
rs1255575160
|
|
NM_020975.6(RET):c.1877A>T (p.Gln626Leu)
|
|
|
NM_020975.6(RET):c.1878G>C (p.Gln626His)
|
rs147692872
|
|
NM_020975.6(RET):c.1879+10T>G
|
rs2132832411
|
|
NM_020975.6(RET):c.1879+11G>A
|
|
|
NM_020975.6(RET):c.1879+11_1879+12dup
|
|
|
NM_020975.6(RET):c.1879+12del
|
rs2132832465
|
|
NM_020975.6(RET):c.1879+14G>T
|
rs532810255
|
|
NM_020975.6(RET):c.1879+15G>T
|
rs2132832570
|
|
NM_020975.6(RET):c.1879+17C>A
|
rs369920430
|
|
NM_020975.6(RET):c.1879+17C>G
|
|
|
NM_020975.6(RET):c.1879+17del
|
rs1837997790
|
|
NM_020975.6(RET):c.1879+18G>T
|
rs368088386
|
|
NM_020975.6(RET):c.1879+1G>A
|
rs1588873476
|
|
NM_020975.6(RET):c.1879+3G>A
|
rs1588873478
|
|
NM_020975.6(RET):c.1879+6T>C
|
rs1588873485
|
|
NM_020975.6(RET):c.1879+7G>A
|
rs1188339370
|
|
NM_020975.6(RET):c.1879+7G>C
|
|
|
NM_020975.6(RET):c.1879+8G>A
|
rs2132832354
|
|
NM_020975.6(RET):c.1879+8G>C
|
|
|
NM_020975.6(RET):c.1879+9G>T
|
rs1588873489
|
|
NM_020975.6(RET):c.1879G>A (p.Asp627Asn)
|
rs2132832112
|
|
NM_020975.6(RET):c.187G>A (p.Val63Met)
|
|
|
NM_020975.6(RET):c.1880-10C>T
|
|
|
NM_020975.6(RET):c.1880-11C>G
|
|
|
NM_020975.6(RET):c.1880-12C>A
|
|
|
NM_020975.6(RET):c.1880-13C>G
|
|
|
NM_020975.6(RET):c.1880-13C>T
|
rs948277023
|
|
NM_020975.6(RET):c.1880-14A>G
|
|
|
NM_020975.6(RET):c.1880-15C>G
|
|
|
NM_020975.6(RET):c.1880-15C>T
|
rs758004890
|
|
NM_020975.6(RET):c.1880-17A>C
|
|
|
NM_020975.6(RET):c.1880-18C>T
|
rs2132842419
|
|
NM_020975.6(RET):c.1880-3C>T
|
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.1880-5C>T
|
|
|
NM_020975.6(RET):c.1880-8A>T
|
rs1588873979
|
|
NM_020975.6(RET):c.1880-8dup
|
rs1838016391
|
|
NM_020975.6(RET):c.1880-9C>T
|
rs1160839983
|
|
NM_020975.6(RET):c.1882C>G (p.Pro628Ala)
|
rs754466051
|
|
NM_020975.6(RET):c.1882_1890dup (p.Cys630_Asp631insProLeuCys)
|
|
|
NM_020975.6(RET):c.1883C>T (p.Pro628Leu)
|
|
|
NM_020975.6(RET):c.1886T>C (p.Leu629Pro)
|
rs1838016977
|
|
NM_020975.6(RET):c.1886T>G (p.Leu629Arg)
|
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
NM_020975.6(RET):c.1888T>G (p.Cys630Gly)
|
rs377767404
|
|
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)
|
rs377767405
|
|
NM_020975.6(RET):c.1890CGA[1] (p.Asp631del)
|
rs377767435
|
|
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)
|
rs377767406
|
|
NM_020975.6(RET):c.1892A>T (p.Asp631Val)
|
rs121913308
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
NM_020975.6(RET):c.1893C>G (p.Asp631Glu)
|
|
|
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu)
|
rs121913307
|
|
NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del)
|
rs121913312
|
|
NM_020975.6(RET):c.1895A>G (p.Glu632Gly)
|
rs1335705237
|
|
NM_020975.6(RET):c.1895A>T (p.Glu632Val)
|
rs1335705237
|
|
NM_020975.6(RET):c.1897_1899del (p.Leu633del)
|
|
|
NM_020975.6(RET):c.1899G>A (p.Leu633=)
|
|
|
NM_020975.6(RET):c.1899_1900delinsTC (p.Cys634Arg)
|
|
|
NM_020975.6(RET):c.189G>A (p.Val63=)
|
|
|
NM_020975.6(RET):c.189G>T (p.Val63=)
|
rs773428442
|
|
NM_020975.6(RET):c.18C>G (p.Ser6=)
|
|
|
NM_020975.6(RET):c.1900T>A (p.Cys634Ser)
|
rs75076352
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu)
|
rs1588874068
|
|
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.1901_1902delinsTT (p.Cys634Phe)
|
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly)
|
|
|
NM_020975.6(RET):c.1904G>T (p.Arg635Leu)
|
rs776164321
|
|
NM_020975.6(RET):c.1905C>T (p.Arg635=)
|
rs2132844912
|
|
NM_020975.6(RET):c.1911G>T (p.Val637=)
|
rs761187737
|
|
NM_020975.6(RET):c.1915G>T (p.Ala639Ser)
|
rs777122776
|
|
NM_020975.6(RET):c.1919C>G (p.Ala640Gly)
|
rs78935588
|
|
NM_020975.6(RET):c.191C>T (p.Pro64Leu)
|
rs77596424
|
|
NM_020975.6(RET):c.1921G>C (p.Ala641Pro)
|
rs377767411
|
|
NM_020975.6(RET):c.1921G>T (p.Ala641Ser)
|
rs377767411
|
|
NM_020975.6(RET):c.1923T>C (p.Ala641=)
|
|
|
NM_020975.6(RET):c.1924G>A (p.Val642Ile)
|
|
|
NM_020975.6(RET):c.1927C>T (p.Leu643Phe)
|
|
|
NM_020975.6(RET):c.1927_1929del (p.Leu643del)
|
|
|
NM_020975.6(RET):c.1928T>C (p.Leu643Pro)
|
rs2132846207
|
|
NM_020975.6(RET):c.1932C>T (p.Phe644=)
|
|
|
NM_020975.6(RET):c.1933T>C (p.Ser645Pro)
|
|
|
NM_020975.6(RET):c.1934_1936del (p.Ser645del)
|
rs1416677590
|
|
NM_020975.6(RET):c.1936T>G (p.Phe646Val)
|
|
|
NM_020975.6(RET):c.1939A>G (p.Ile647Val)
|
|
|
NM_020975.6(RET):c.1942G>T (p.Val648Phe)
|
rs77711105
|
|
NM_020975.6(RET):c.1943T>C (p.Val648Ala)
|
rs864622505
|
|
NM_020975.6(RET):c.1944C>T (p.Val648=)
|
rs1588874169
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1947G>C (p.Ser649=)
|
|
|
NM_020975.6(RET):c.1948G>A (p.Val650Met)
|
|
|
NM_020975.6(RET):c.1953G>C (p.Leu651=)
|
rs1588874175
|
|
NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs)
|
|
|
NM_020975.6(RET):c.1957T>A (p.Ser653Thr)
|
|
|
NM_020975.6(RET):c.1961C>T (p.Ala654Val)
|
|
|
NM_020975.6(RET):c.1962C>A (p.Ala654=)
|
rs1350081720
|
|
NM_020975.6(RET):c.1963T>G (p.Phe655Val)
|
rs756978792
|
|
NM_020975.6(RET):c.1965C>G (p.Phe655Leu)
|
|
|
NM_020975.6(RET):c.1968C>T (p.Cys656=)
|
|
|
NM_020975.6(RET):c.1969A>T (p.Ile657Phe)
|
|
|
NM_020975.6(RET):c.1971C>G (p.Ile657Met)
|
rs2132848081
|
|
NM_020975.6(RET):c.1971C>T (p.Ile657=)
|
|
|
NM_020975.6(RET):c.1972C>T (p.His658Tyr)
|
|
|
NM_020975.6(RET):c.1977C>G (p.Cys659Trp)
|
rs2132848413
|
|
NM_020975.6(RET):c.1978T>C (p.Tyr660His)
|
rs2132848458
|
|
NM_020975.6(RET):c.1982A>G (p.His661Arg)
|
rs1838023752
|
|
NM_020975.6(RET):c.1983C>G (p.His661Gln)
|
|
|
NM_020975.6(RET):c.1983C>T (p.His661=)
|
|
|
NM_020975.6(RET):c.1984A>G (p.Lys662Glu)
|
rs1838023938
|
|
NM_020975.6(RET):c.1985A>C (p.Lys662Thr)
|
rs1588874193
|
|
NM_020975.6(RET):c.1985A>G (p.Lys662Arg)
|
rs1588874193
|
|
NM_020975.6(RET):c.1990G>T (p.Ala664Ser)
|
rs1357060080
|
|
NM_020975.6(RET):c.1991C>A (p.Ala664Asp)
|
|
|
NM_020975.6(RET):c.1991C>T (p.Ala664Val)
|
rs2132848989
|
|
NM_020975.6(RET):c.1993C>T (p.His665Tyr)
|
rs1228832134
|
|
NM_020975.6(RET):c.1994A>G (p.His665Arg)
|
rs1838024434
|
|
NM_020975.6(RET):c.1995C>A (p.His665Gln)
|
rs377767413
|
|
NM_020975.6(RET):c.1996_2001del (p.Lys666_Pro667del)
|
rs1838024811
|
|
NM_020975.6(RET):c.1997A>C (p.Lys666Thr)
|
rs377767439
|
|
NM_020975.6(RET):c.1997A>G (p.Lys666Arg)
|
rs377767439
|
|
NM_020975.6(RET):c.1998G>A (p.Lys666=)
|
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)
|
rs377767440
|
|
NM_020975.6(RET):c.19G>C (p.Gly7Arg)
|
|
|
NM_020975.6(RET):c.2003C>T (p.Pro668Leu)
|
rs1482522995
|
|
NM_020975.6(RET):c.2007CTC[1] (p.Ser671del)
|
|
|
NM_020975.6(RET):c.2014G>T (p.Ala672Ser)
|
rs1838026024
|
|
NM_020975.6(RET):c.2019G>A (p.Glu673=)
|
|
|
NM_020975.6(RET):c.201C>T (p.Arg67=)
|
rs200328158
|
|
NM_020975.6(RET):c.2021T>C (p.Met674Thr)
|
|
|
NM_020975.6(RET):c.2025C>T (p.Thr675=)
|
rs2132850672
|
|
NM_020975.6(RET):c.2026T>C (p.Phe676Leu)
|
rs2132850697
|
|
NM_020975.6(RET):c.2029C>A (p.Arg677=)
|
rs1432069386
|
|
NM_020975.6(RET):c.2029C>T (p.Arg677Trp)
|
rs1432069386
|
|
NM_020975.6(RET):c.202C>A (p.Leu68Met)
|
rs1588862565
|
|
NM_020975.6(RET):c.202C>T (p.Leu68=)
|
rs1588862565
|
|
NM_020975.6(RET):c.2030G>A (p.Arg677Gln)
|
rs536038262
|
|
NM_020975.6(RET):c.2034G>A (p.Arg678=)
|
rs2132850963
|
|
NM_020975.6(RET):c.2038G>T (p.Ala680Ser)
|
|
|
NM_020975.6(RET):c.2039C>T (p.Ala680Val)
|
rs1838027230
|
|
NM_020975.6(RET):c.2040C>A (p.Ala680=)
|
rs1336334127
|
|
NM_020975.6(RET):c.2040C>T (p.Ala680=)
|
|
|
NM_020975.6(RET):c.2043G>T (p.Gln681His)
|
|
|
NM_020975.6(RET):c.2045C>T (p.Ala682Val)
|
rs1283566936
|
|
NM_020975.6(RET):c.2049C>T (p.Phe683=)
|
rs2132851661
|
|
NM_020975.6(RET):c.204G>A (p.Leu68=)
|
rs148874112
|
|
NM_020975.6(RET):c.204G>C (p.Leu68=)
|
|
|
NM_020975.6(RET):c.2053G>A (p.Val685Ile)
|
rs753686782
|
|
NM_020975.6(RET):c.2054T>C (p.Val685Ala)
|
rs1422796781
|
|
NM_020975.6(RET):c.2056A>G (p.Ser686Gly)
|
|
|
NM_020975.6(RET):c.205G>A (p.Gly69Ser)
|
rs2132661153
|
|
NM_020975.6(RET):c.2061C>T (p.Tyr687=)
|
rs1236296845
|
|
NM_020975.6(RET):c.2062T>C (p.Ser688Pro)
|
rs750681372
|
|
NM_020975.6(RET):c.2062T>G (p.Ser688Ala)
|
|
|
NM_020975.6(RET):c.2064C>T (p.Ser688=)
|
rs1477614645
|
|
NM_020975.6(RET):c.2068T>G (p.Ser690Ala)
|
rs1838028995
|
|
NM_020975.6(RET):c.206G>A (p.Gly69Asp)
|
rs2132661188
|
|
NM_020975.6(RET):c.2070C>A (p.Ser690=)
|
rs201550433
|
|
NM_020975.6(RET):c.2071G>C (p.Gly691Arg)
|
rs1799939
|
|
NM_020975.6(RET):c.2071G>T (p.Gly691Cys)
|
rs1799939
|
|
NM_020975.6(RET):c.2074G>A (p.Ala692Thr)
|
|
|
NM_020975.6(RET):c.2075C>A (p.Ala692Asp)
|
|
|
NM_020975.6(RET):c.2075_2076delinsAA (p.Ala692Glu)
|
|
|
NM_020975.6(RET):c.2076C>G (p.Ala692=)
|
rs1414025702
|
|
NM_020975.6(RET):c.2077C>T (p.Arg693Cys)
|
|
|
NM_020975.6(RET):c.2084C>G (p.Pro695Arg)
|
|
|
NM_020975.6(RET):c.2085C>G (p.Pro695=)
|
rs571603831
|
|
NM_020975.6(RET):c.2087C>T (p.Ser696Leu)
|
rs1564496520
|
|
NM_020975.6(RET):c.2088G>T (p.Ser696=)
|
rs150329150
|
|
NM_020975.6(RET):c.2089C>T (p.Leu697=)
|
rs1588874416
|
|
NM_020975.6(RET):c.2090T>C (p.Leu697Pro)
|
rs1293039001
|
|
NM_020975.6(RET):c.2092G>A (p.Asp698Asn)
|
|
|
NM_020975.6(RET):c.2093A>C (p.Asp698Ala)
|
|
|
NM_020975.6(RET):c.2095T>C (p.Ser699Pro)
|
|
|
NM_020975.6(RET):c.2096C>G (p.Ser699Cys)
|
|
|
NM_020975.6(RET):c.2096C>T (p.Ser699Phe)
|
rs1838030910
|
|
NM_020975.6(RET):c.2097C>T (p.Ser699=)
|
rs1554818954
|
|
NM_020975.6(RET):c.2098A>T (p.Met700Leu)
|
rs377767441
|
|
NM_020975.6(RET):c.2098_2115dup (p.Ser705_Val706insMetGluAsnGlnValSer)
|
rs1345270276
|
|
NM_020975.6(RET):c.2099T>C (p.Met700Thr)
|
|
|
NM_020975.6(RET):c.209A>G (p.Gln70Arg)
|
rs1329573334
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
NM_020975.6(RET):c.20G>T (p.Gly7Val)
|
rs1366681125
|
|
NM_020975.6(RET):c.2100G>A (p.Met700Ile)
|
rs1564496551
|
|
NM_020975.6(RET):c.2104A>G (p.Asn702Asp)
|
|
|
NM_020975.6(RET):c.2105A>G (p.Asn702Ser)
|
rs1838031378
|
|
NM_020975.6(RET):c.2106C>T (p.Asn702=)
|
|
|
NM_020975.6(RET):c.2107C>G (p.Gln703Glu)
|
rs2132854777
|
|
NM_020975.6(RET):c.2108A>G (p.Gln703Arg)
|
rs1838031470
|
|
NM_020975.6(RET):c.2109G>C (p.Gln703His)
|
|
|
NM_020975.6(RET):c.2111T>A (p.Val704Asp)
|
|
|
NM_020975.6(RET):c.2111T>C (p.Val704Ala)
|
rs770155054
|
|
NM_020975.6(RET):c.2112C>G (p.Val704=)
|
rs1209925911
|
|
NM_020975.6(RET):c.2112C>T (p.Val704=)
|
rs1209925911
|
|
NM_020975.6(RET):c.2116G>T (p.Val706Leu)
|
rs137855422
|
|
NM_020975.6(RET):c.2118G>A (p.Val706=)
|
|
|
NM_020975.6(RET):c.2119G>C (p.Asp707His)
|
|
|
NM_020975.6(RET):c.2120A>C (p.Asp707Ala)
|
|
|
NM_020975.6(RET):c.2120A>G (p.Asp707Gly)
|
|
|
NM_020975.6(RET):c.2125T>A (p.Phe709Ile)
|
|
|
NM_020975.6(RET):c.2125T>C (p.Phe709Leu)
|
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
NM_020975.6(RET):c.212A>G (p.His71Arg)
|
rs1837618595
|
|
NM_020975.6(RET):c.2130G>A (p.Lys710=)
|
|
|
NM_020975.6(RET):c.2133C>A (p.Ile711=)
|
|
|
NM_020975.6(RET):c.2133C>T (p.Ile711=)
|
rs2132855814
|
|
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)
|
rs760272063
|
|
NM_020975.6(RET):c.2136+10C>A
|
|
|
NM_020975.6(RET):c.2136+10C>T
|
|
|
NM_020975.6(RET):c.2136+11C>G
|
|
|
NM_020975.6(RET):c.2136+12T>C
|
|
|
NM_020975.6(RET):c.2136+13G>A
|
|
|
NM_020975.6(RET):c.2136+14C>A
|
rs368361145
|
|
NM_020975.6(RET):c.2136+14C>G
|
|
|
NM_020975.6(RET):c.2136+15_2136+35del
|
rs753686672
|
|
NM_020975.6(RET):c.2136+17G>A
|
|
|
NM_020975.6(RET):c.2136+18G>A
|
rs761777383
|
|
NM_020975.6(RET):c.2136+18G>T
|
rs761777383
|
|
NM_020975.6(RET):c.2136+2T>G
|
|
|
NM_020975.6(RET):c.2136+6G>T
|
|
|
NM_020975.6(RET):c.2136+7G>A
|
|
|
NM_020975.6(RET):c.2136+9C>G
|
|
|
NM_020975.6(RET):c.2136+9C>T
|
rs1331402266
|
|
NM_020975.6(RET):c.2137-10T>C
|
rs864622066
|
|
NM_020975.6(RET):c.2137-11T>G
|
rs1247657169
|
|
NM_020975.6(RET):c.2137-13A>C
|
rs1314541806
|
|
NM_020975.6(RET):c.2137-14C>T
|
rs2132901790
|
|
NM_020975.6(RET):c.2137-16del
|
rs1409965349
|
|
NM_020975.6(RET):c.2137-17C>G
|
rs1287152318
|
|
NM_020975.6(RET):c.2137-18C>A
|
|
|
NM_020975.6(RET):c.2137-18C>T
|
rs959581002
|
|
NM_020975.6(RET):c.2137-19T>C
|
rs2132901589
|
|
NM_020975.6(RET):c.2137-6A>T
|
|
|
NM_020975.6(RET):c.2137-7A>G
|
rs2132902032
|
|
NM_020975.6(RET):c.2137-8C>T
|
|
|
NM_020975.6(RET):c.2138A>T (p.Glu713Val)
|
|
|
NM_020975.6(RET):c.2141A>C (p.Asp714Ala)
|
rs2132902595
|
|
NM_020975.6(RET):c.2143C>A (p.Pro715Thr)
|
rs1838075429
|
|
NM_020975.6(RET):c.2143C>G (p.Pro715Ala)
|
|
|
NM_020975.6(RET):c.2159C>T (p.Pro720Leu)
|
rs1588875462
|
|
NM_020975.6(RET):c.2161C>G (p.Arg721Gly)
|
|
|
NM_020975.6(RET):c.2161C>T (p.Arg721Trp)
|
rs1554819146
|
|
NM_020975.6(RET):c.2168A>G (p.Asn723Ser)
|
|
|
NM_020975.6(RET):c.2172G>A (p.Leu724=)
|
rs2132904323
|
|
NM_020975.6(RET):c.2176C>T (p.Leu726Phe)
|
rs1838076418
|
|
NM_020975.6(RET):c.2183A>G (p.Lys728Arg)
|
rs1042740895
|
|
NM_020975.6(RET):c.2186C>T (p.Thr729Ile)
|
rs2132904896
|
|
NM_020975.6(RET):c.2188C>G (p.Leu730Val)
|
rs1838076782
|
|
NM_020975.6(RET):c.2193A>G (p.Gly731=)
|
rs2132905376
|
|
NM_020975.6(RET):c.2194G>A (p.Glu732Lys)
|
|
|
NM_020975.6(RET):c.2199C>T (p.Gly733=)
|
rs587780809
|
|
NM_020975.6(RET):c.2200G>A (p.Glu734Lys)
|
rs1838077120
|
|
NM_020975.6(RET):c.220G>C (p.Gly74Arg)
|
|
|
NM_020975.6(RET):c.2210A>G (p.Lys737Arg)
|
rs2132906106
|
|
NM_020975.6(RET):c.2211A>C (p.Lys737Asn)
|
|
|
NM_020975.6(RET):c.2215G>A (p.Val739Ile)
|
rs2132906367
|
|
NM_020975.6(RET):c.2217C>G (p.Val739=)
|
|
|
NM_020975.6(RET):c.2217C>T (p.Val739=)
|
|
|
NM_020975.6(RET):c.2218A>G (p.Lys740Glu)
|
rs1838077401
|
|
NM_020975.6(RET):c.2221G>A (p.Ala741Thr)
|
rs2132906751
|
|
NM_020975.6(RET):c.2229C>T (p.Ala743=)
|
rs1838077833
|
|
NM_020975.6(RET):c.2231T>C (p.Phe744Ser)
|
|
|
NM_020975.6(RET):c.2234A>C (p.His745Pro)
|
rs534094626
|
|
NM_020975.6(RET):c.2234A>G (p.His745Arg)
|
rs534094626
|
|
NM_020975.6(RET):c.2236C>G (p.Leu746Val)
|
rs1838078155
|
|
NM_020975.6(RET):c.2238G>A (p.Leu746=)
|
rs1397237755
|
|
NM_020975.6(RET):c.2238G>T (p.Leu746=)
|
rs1397237755
|
|
NM_020975.6(RET):c.2239A>C (p.Lys747Gln)
|
|
|
NM_020975.6(RET):c.2239A>G (p.Lys747Glu)
|
|
|
NM_020975.6(RET):c.2241A>G (p.Lys747=)
|
|
|
NM_020975.6(RET):c.2248G>C (p.Ala750Pro)
|
rs1554819165
|
|
NM_020975.6(RET):c.224C>G (p.Thr75Arg)
|
|
|
NM_020975.6(RET):c.2251G>A (p.Gly751Arg)
|
rs756163867
|
|
NM_020975.6(RET):c.2252G>A (p.Gly751Glu)
|
|
|
NM_020975.6(RET):c.2253G>A (p.Gly751=)
|
|
|
NM_020975.6(RET):c.2254T>C (p.Tyr752His)
|
rs984978805
|
|
NM_020975.6(RET):c.2255A>G (p.Tyr752Cys)
|
rs909451217
|
|
NM_020975.6(RET):c.2257A>C (p.Thr753Pro)
|
|
|
NM_020975.6(RET):c.2257A>G (p.Thr753Ala)
|
rs1838079291
|
|
NM_020975.6(RET):c.2262G>A (p.Thr754=)
|
rs779080598
|
|
NM_020975.6(RET):c.2262G>C (p.Thr754=)
|
rs779080598
|
|
NM_020975.6(RET):c.2262G>T (p.Thr754=)
|
|
|
NM_020975.6(RET):c.2263G>A (p.Val755Met)
|
rs2132909324
|
|
NM_020975.6(RET):c.2264T>C (p.Val755Ala)
|
rs1256848994
|
|
NM_020975.6(RET):c.2267C>A (p.Ala756Asp)
|
rs1838079858
|
|
NM_020975.6(RET):c.2267C>G (p.Ala756Gly)
|
rs1838079858
|
|
NM_020975.6(RET):c.2268C>A (p.Ala756=)
|
rs370791179
|
|
NM_020975.6(RET):c.2284+17G>A
|
|
|
NM_020975.6(RET):c.2284+18G>A
|
|
|
NM_020975.6(RET):c.2284+18G>T
|
|
|
NM_020975.6(RET):c.2284+3A>G
|
rs1838080251
|
|
NM_020975.6(RET):c.2284+4C>G
|
rs1838080320
|
|
NM_020975.6(RET):c.2284+4C>T
|
|
|
NM_020975.6(RET):c.2284+54C>A
|
rs566375223
|
|
NM_020975.6(RET):c.2284+7G>A
|
rs1181605359
|
|
NM_020975.6(RET):c.2284+7G>C
|
rs1181605359
|
|
NM_020975.6(RET):c.2285-14G>A
|
|
|
NM_020975.6(RET):c.2285-14G>C
|
|
|
NM_020975.6(RET):c.2285-16C>A
|
|
|
NM_020975.6(RET):c.2285-16C>G
|
|
|
NM_020975.6(RET):c.2285-16C>T
|
rs781027098
|
|
NM_020975.6(RET):c.2285-20T>C
|
|
|
NM_020975.6(RET):c.2285A>C (p.Glu762Ala)
|
|
|
NM_020975.6(RET):c.2286G>T (p.Glu762Asp)
|
rs1323183090
|
|
NM_020975.6(RET):c.2287A>G (p.Asn763Asp)
|
rs878855060
|
|
NM_020975.6(RET):c.2288A>G (p.Asn763Ser)
|
|
|
NM_020975.6(RET):c.2295C>G (p.Ser765=)
|
|
|
NM_020975.6(RET):c.2297C>A (p.Pro766Gln)
|
|
|
NM_020975.6(RET):c.2297C>G (p.Pro766Arg)
|
rs1017108031
|
|
NM_020975.6(RET):c.2297C>T (p.Pro766Leu)
|
rs1017108031
|
|
NM_020975.6(RET):c.2298G>T (p.Pro766=)
|
|
|
NM_020975.6(RET):c.2299A>C (p.Ser767Arg)
|
|
|
NM_020975.6(RET):c.229C>G (p.Arg77Gly)
|
|
|
NM_020975.6(RET):c.229C>T (p.Arg77Cys)
|
rs1588862595
|
|
NM_020975.6(RET):c.22G>A (p.Ala8Thr)
|
|
|
NM_020975.6(RET):c.22G>T (p.Ala8Ser)
|
rs1476325851
|
|
NM_020975.6(RET):c.2304G>A (p.Glu768=)
|
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
|
|
|
NM_020975.6(RET):c.2305_2307delinsTTT (p.Leu769Phe)
|
|
|
NM_020975.6(RET):c.2309G>A (p.Arg770Gln)
|
rs377767414
|
|
NM_020975.6(RET):c.2309G>C (p.Arg770Pro)
|
rs377767414
|
|
NM_020975.6(RET):c.2313C>G (p.Asp771Glu)
|
rs1838123343
|
|
NM_020975.6(RET):c.2313C>T (p.Asp771=)
|
|
|
NM_020975.6(RET):c.2316G>C (p.Leu772=)
|
|
|
NM_020975.6(RET):c.2318T>G (p.Leu773Arg)
|
|
|
NM_020975.6(RET):c.231C>T (p.Arg77=)
|
rs3123654
|
|
NM_020975.6(RET):c.2322A>G (p.Ser774=)
|
|
|
NM_020975.6(RET):c.2325G>A (p.Glu775=)
|
rs2132929261
|
|
NM_020975.6(RET):c.2326T>C (p.Phe776Leu)
|
|
|
NM_020975.6(RET):c.2327T>A (p.Phe776Tyr)
|
|
|
NM_020975.6(RET):c.2328C>T (p.Phe776=)
|
|
|
NM_020975.6(RET):c.232A>C (p.Thr78Pro)
|
rs2132662087
|
|
NM_020975.6(RET):c.2330A>G (p.Asn777Ser)
|
rs377767415
|
|
NM_020975.6(RET):c.2332G>T (p.Val778Phe)
|
rs75686697
|
|
NM_020975.6(RET):c.2334C>G (p.Val778=)
|
rs1191447337
|
|
NM_020975.6(RET):c.2340G>A (p.Lys780=)
|
rs1588876500
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
NM_020975.6(RET):c.2343G>A (p.Gln781=)
|
rs1588876509
|
|
NM_020975.6(RET):c.2344G>A (p.Val782Ile)
|
rs1838124605
|
|
NM_020975.6(RET):c.2344G>T (p.Val782Phe)
|
rs1838124605
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2348A>G (p.Asn783Ser)
|
rs587778656
|
|
NM_020975.6(RET):c.2352C>T (p.His784=)
|
rs1588876518
|
|
NM_020975.6(RET):c.2356C>T (p.His786Tyr)
|
|
|
NM_020975.6(RET):c.2359G>A (p.Val787Ile)
|
|
|
NM_020975.6(RET):c.235C>A (p.Arg79=)
|
|
|
NM_020975.6(RET):c.2362A>G (p.Ile788Val)
|
rs1588876533
|
|
NM_020975.6(RET):c.2369T>C (p.Leu790Ser)
|
|
|
NM_020975.6(RET):c.2370G>A (p.Leu790=)
|
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2372A>G (p.Tyr791Cys)
|
rs77724903
|
|
NM_020975.6(RET):c.2373T>C (p.Tyr791=)
|
rs1554819406
|
|
NM_020975.6(RET):c.2376G>A (p.Gly792=)
|
rs756758769
|
|
NM_020975.6(RET):c.2377G>A (p.Ala793Thr)
|
|
|
NM_020975.6(RET):c.2378C>T (p.Ala793Val)
|
rs1554819410
|
|
NM_020975.6(RET):c.237G>T (p.Arg79=)
|
rs1554817395
|
|
NM_020975.6(RET):c.2382C>T (p.Cys794=)
|
rs1554819412
|
|
NM_020975.6(RET):c.2385C>A (p.Ser795Arg)
|
|
|
NM_020975.6(RET):c.2385C>T (p.Ser795=)
|
rs2132932061
|
|
NM_020975.6(RET):c.2388G>A (p.Gln796=)
|
rs1328507414
|
|
NM_020975.6(RET):c.2388G>T (p.Gln796His)
|
|
|
NM_020975.6(RET):c.238C>T (p.Leu80=)
|
rs1588862612
|
|
NM_020975.6(RET):c.2392+10G>A
|
rs773999299
|
|
NM_020975.6(RET):c.2392+11C>A
|
|
|
NM_020975.6(RET):c.2392+11C>G
|
|
|
NM_020975.6(RET):c.2392+13G>A
|
|
|
NM_020975.6(RET):c.2392+14C>T
|
|
|
NM_020975.6(RET):c.2392+17G>A
|
rs1282018603
|
|
NM_020975.6(RET):c.2392+17G>C
|
|
|
NM_020975.6(RET):c.2392+18G>A
|
|
|
NM_020975.6(RET):c.2392+20G>A
|
|
|
NM_020975.6(RET):c.2392+6G>A
|
rs1554819413
|
|
NM_020975.6(RET):c.2392+6G>T
|
rs1554819413
|
|
NM_020975.6(RET):c.2392+7C>T
|
rs1223172915
|
|
NM_020975.6(RET):c.2392+9A>G
|
|
|
NM_020975.6(RET):c.2393-12C>G
|
|
|
NM_020975.6(RET):c.2393-12C>T
|
rs2132941756
|
|
NM_020975.6(RET):c.2393-14C>G
|
rs144269978
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_020975.6(RET):c.2393-16del
|
|
|
NM_020975.6(RET):c.2393-17C>T
|
rs1370176408
|
|
NM_020975.6(RET):c.2393-18C>G
|
|
|
NM_020975.6(RET):c.2393-19C>T
|
rs1183461228
|
|
NM_020975.6(RET):c.2393-20C>A
|
|
|
NM_020975.6(RET):c.2393-4C>G
|
|
|
NM_020975.6(RET):c.2393-4C>T
|
rs768398267
|
|
NM_020975.6(RET):c.2393-5C>A
|
rs1554819512
|
|
NM_020975.6(RET):c.2393-5C>T
|
rs1554819512
|
|
NM_020975.6(RET):c.2393-6C>G
|
|
|
NM_020975.6(RET):c.2393-6C>T
|
rs371646543
|
|
NM_020975.6(RET):c.2393-8G>C
|
rs376151644
|
|
NM_020975.6(RET):c.2393-8G>T
|
rs376151644
|
|
NM_020975.6(RET):c.2393G>A (p.Gly798Asp)
|
rs1453303247
|
|
NM_020975.6(RET):c.2394C>G (p.Gly798=)
|
rs1838152776
|
|
NM_020975.6(RET):c.2394C>T (p.Gly798=)
|
|
|
NM_020975.6(RET):c.2396C>A (p.Pro799Gln)
|
|
|
NM_020975.6(RET):c.2396C>T (p.Pro799Leu)
|
|
|
NM_020975.6(RET):c.2397G>C (p.Pro799=)
|
rs776737136
|
|
NM_020975.6(RET):c.2401C>G (p.Leu801Val)
|
rs1364361946
|
|
NM_020975.6(RET):c.2401C>T (p.Leu801Phe)
|
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2406C>T (p.Leu802=)
|
rs748339853
|
|
NM_020975.6(RET):c.2409C>A (p.Ile803=)
|
rs535051804
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2411T>C (p.Val804Ala)
|
rs1554819520
|
|
NM_020975.6(RET):c.2412G>T (p.Val804=)
|
rs767045208
|
|
NM_020975.6(RET):c.2413G>A (p.Glu805Lys)
|
rs377767418
|
|
NM_020975.6(RET):c.2413G>C (p.Glu805Gln)
|
rs377767418
|
|
NM_020975.6(RET):c.2414A>C (p.Glu805Ala)
|
|
|
NM_020975.6(RET):c.2415G>A (p.Glu805=)
|
rs2132942981
|
|
NM_020975.6(RET):c.2416T>C (p.Tyr806His)
|
rs1838154415
|
|
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys)
|
rs377767419
|
|
NM_020975.6(RET):c.2419G>A (p.Ala807Thr)
|
rs760012685
|
|
NM_020975.6(RET):c.2419G>T (p.Ala807Ser)
|
rs760012685
|
|
NM_020975.6(RET):c.2420C>G (p.Ala807Gly)
|
|
|
NM_020975.6(RET):c.2420C>T (p.Ala807Val)
|
rs1554819523
|
|
NM_020975.6(RET):c.2424A>C (p.Lys808Asn)
|
|
|
NM_020975.6(RET):c.2426A>C (p.Tyr809Ser)
|
|
|
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter)
|
rs577929869
|
|
NM_020975.6(RET):c.2428G>A (p.Gly810Ser)
|
rs764784013
|
|
NM_020975.6(RET):c.2428G>C (p.Gly810Arg)
|
|
|
NM_020975.6(RET):c.242A>G (p.His81Arg)
|
rs1217729118
|
|
NM_020975.6(RET):c.2432C>G (p.Ser811Cys)
|
rs587778657
|
|
NM_020975.6(RET):c.2433C>T (p.Ser811=)
|
rs1290818295
|
|
NM_020975.6(RET):c.2436G>A (p.Leu812=)
|
|
|
NM_020975.6(RET):c.2437C>A (p.Arg813=)
|
|
|
NM_020975.6(RET):c.2439G>A (p.Arg813=)
|
|
|
NM_020975.6(RET):c.2441G>A (p.Gly814Asp)
|
|
|
NM_020975.6(RET):c.2443T>C (p.Phe815Leu)
|
rs1838156276
|
|
NM_020975.6(RET):c.2444T>G (p.Phe815Cys)
|
rs2132944356
|
|
NM_020975.6(RET):c.2445C>G (p.Phe815Leu)
|
|
|
NM_020975.6(RET):c.2448C>T (p.Leu816=)
|
rs368500000
|
|
NM_020975.6(RET):c.244G>A (p.Glu82Lys)
|
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
NM_020975.6(RET):c.2451C>A (p.Arg817=)
|
|
|
NM_020975.6(RET):c.2451C>T (p.Arg817=)
|
rs747894751
|
|
NM_020975.6(RET):c.2452G>C (p.Glu818Gln)
|
|
|
NM_020975.6(RET):c.2453A>G (p.Glu818Gly)
|
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
NM_020975.6(RET):c.2456G>A (p.Ser819Asn)
|
|
|
NM_020975.6(RET):c.2456G>T (p.Ser819Ile)
|
rs377767421
|
|
NM_020975.6(RET):c.2457C>G (p.Ser819Arg)
|
rs375322585
|
|
NM_020975.6(RET):c.2457C>T (p.Ser819=)
|
rs375322585
|
|
NM_020975.6(RET):c.2458C>T (p.Arg820Cys)
|
|
|
NM_020975.6(RET):c.2459G>A (p.Arg820His)
|
|
|
NM_020975.6(RET):c.2461A>G (p.Lys821Glu)
|
rs749421642
|
|
NM_020975.6(RET):c.2464G>A (p.Val822Met)
|
rs1588877202
|
|
NM_020975.6(RET):c.2464G>C (p.Val822Leu)
|
rs1588877202
|
|
NM_020975.6(RET):c.2464G>T (p.Val822Leu)
|
rs1588877202
|
|
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)
|
rs138847998
|
|
NM_020975.6(RET):c.2468G>A (p.Gly823Glu)
|
rs142779213
|
|
NM_020975.6(RET):c.2469G>A (p.Gly823=)
|
rs1588877213
|
|
NM_020975.6(RET):c.2472T>C (p.Pro824=)
|
|
|
NM_020975.6(RET):c.2474G>C (p.Gly825Ala)
|
|
|
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn)
|
rs1445590151
|
|
NM_020975.6(RET):c.2476T>C (p.Tyr826His)
|
rs1445590151
|
|
NM_020975.6(RET):c.2477A>G (p.Tyr826Cys)
|
rs34617196
|
|
NM_020975.6(RET):c.2479C>G (p.Leu827Val)
|
rs1247476725
|
|
NM_020975.6(RET):c.2479C>T (p.Leu827=)
|
rs1247476725
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
NM_020975.6(RET):c.2481G>A (p.Leu827=)
|
rs775022842
|
|
NM_020975.6(RET):c.2482G>A (p.Gly828Ser)
|
rs912196017
|
|
NM_020975.6(RET):c.2482G>C (p.Gly828Arg)
|
rs912196017
|
|
NM_020975.6(RET):c.2483G>T (p.Gly828Val)
|
rs1588877229
|
|
NM_020975.6(RET):c.2486G>A (p.Ser829Asn)
|
|
|
NM_020975.6(RET):c.2487T>C (p.Ser829=)
|
rs2132946081
|
|
NM_020975.6(RET):c.2489G>A (p.Gly830Glu)
|
rs1159027752
|
|
NM_020975.6(RET):c.2492G>T (p.Gly831Val)
|
rs760924186
|
|
NM_020975.6(RET):c.2493C>T (p.Gly831=)
|
|
|
NM_020975.6(RET):c.2495G>A (p.Ser832Asn)
|
|
|
NM_020975.6(RET):c.2496C>T (p.Ser832=)
|
|
|
NM_020975.6(RET):c.249C>T (p.Asn83=)
|
rs1060504032
|
|
NM_020975.6(RET):c.2501A>C (p.Asn834Thr)
|
|
|
NM_020975.6(RET):c.2501A>G (p.Asn834Ser)
|
rs147433153
|
|
NM_020975.6(RET):c.2502C>T (p.Asn834=)
|
rs1554819542
|
|
NM_020975.6(RET):c.2503T>G (p.Ser835Ala)
|
rs2132946807
|
|
NM_020975.6(RET):c.2507G>A (p.Ser836Asn)
|
rs1280808741
|
|
NM_020975.6(RET):c.2509T>G (p.Ser837Ala)
|
|
|
NM_020975.6(RET):c.2511C>T (p.Ser837=)
|
rs2132947111
|
|
NM_020975.6(RET):c.2514G>C (p.Leu838=)
|
|
|
NM_020975.6(RET):c.2515G>A (p.Asp839Asn)
|
|
|
NM_020975.6(RET):c.2515G>C (p.Asp839His)
|
|
|
NM_020975.6(RET):c.2517C>G (p.Asp839Glu)
|
|
|
NM_020975.6(RET):c.2519A>C (p.His840Pro)
|
rs1588877283
|
|
NM_020975.6(RET):c.2519A>G (p.His840Arg)
|
rs1588877283
|
|
NM_020975.6(RET):c.2519A>T (p.His840Leu)
|
|
|
NM_020975.6(RET):c.2521C>T (p.Pro841Ser)
|
|
|
NM_020975.6(RET):c.2522C>A (p.Pro841Gln)
|
|
|
NM_020975.6(RET):c.2523G>A (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2524G>A (p.Asp842Asn)
|
rs1838161318
|
|
NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln)
|
rs1838161569
|
|
NM_020975.6(RET):c.2529G>A (p.Glu843=)
|
|
|
NM_020975.6(RET):c.252C>G (p.Asn84Lys)
|
|
|
NM_020975.6(RET):c.252C>T (p.Asn84=)
|
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2531G>T (p.Arg844Leu)
|
rs55947360
|
|
NM_020975.6(RET):c.2532G>A (p.Arg844=)
|
|
|
NM_020975.6(RET):c.2533G>T (p.Ala845Ser)
|
|
|
NM_020975.6(RET):c.2534C>T (p.Ala845Val)
|
|
|
NM_020975.6(RET):c.2535C>T (p.Ala845=)
|
rs377767425
|
|
NM_020975.6(RET):c.2536C>T (p.Leu846Phe)
|
|
|
NM_020975.6(RET):c.2542A>C (p.Met848Leu)
|
|
|
NM_020975.6(RET):c.2542A>T (p.Met848Leu)
|
rs794728685
|
|
NM_020975.6(RET):c.2543T>A (p.Met848Lys)
|
rs201101792
|
|
NM_020975.6(RET):c.2543T>C (p.Met848Thr)
|
rs201101792
|
|
NM_020975.6(RET):c.2543T>G (p.Met848Arg)
|
|
|
NM_020975.6(RET):c.2549A>T (p.Asp850Val)
|
|
|
NM_020975.6(RET):c.2550C>G (p.Asp850Glu)
|
rs1838163222
|
|
NM_020975.6(RET):c.2550C>T (p.Asp850=)
|
rs1838163222
|
|
NM_020975.6(RET):c.2551C>T (p.Leu851Phe)
|
rs1588877364
|
|
NM_020975.6(RET):c.2553C>T (p.Leu851=)
|
rs2132949279
|
|
NM_020975.6(RET):c.2554A>G (p.Ile852Val)
|
rs561276725
|
|
NM_020975.6(RET):c.2554A>T (p.Ile852Phe)
|
|
|
NM_020975.6(RET):c.2557T>C (p.Ser853Pro)
|
rs2132949563
|
|
NM_020975.6(RET):c.255G>A (p.Trp85Ter)
|
|
|
NM_020975.6(RET):c.2561T>C (p.Phe854Ser)
|
rs1838163624
|
|
NM_020975.6(RET):c.2565C>G (p.Ala855=)
|
|
|
NM_020975.6(RET):c.2565C>T (p.Ala855=)
|
rs773912702
|
|
NM_020975.6(RET):c.2566T>C (p.Trp856Arg)
|
|
|
NM_020975.6(RET):c.2566T>G (p.Trp856Gly)
|
rs1838163811
|
|
NM_020975.6(RET):c.2571G>T (p.Gln857His)
|
rs1588877374
|
|
NM_020975.6(RET):c.2573T>C (p.Ile858Thr)
|
|
|
NM_020975.6(RET):c.2574C>T (p.Ile858=)
|
rs2132950497
|
|
NM_020975.6(RET):c.2578C>G (p.Gln860Glu)
|
|
|
NM_020975.6(RET):c.2580G>A (p.Gln860=)
|
rs886046988
|
|
NM_020975.6(RET):c.2583G>A (p.Gly861=)
|
rs146628741
|
|
NM_020975.6(RET):c.258C>A (p.Ile86=)
|
|
|
NM_020975.6(RET):c.2590T>C (p.Tyr864His)
|
|
|
NM_020975.6(RET):c.2592T>C (p.Tyr864=)
|
rs1588877395
|
|
NM_020975.6(RET):c.2593C>T (p.Leu865=)
|
|
|
NM_020975.6(RET):c.2595G>A (p.Leu865=)
|
|
|
NM_020975.6(RET):c.2596G>A (p.Ala866Thr)
|
rs1334494092
|
|
NM_020975.6(RET):c.2598C>A (p.Ala866=)
|
|
|
NM_020975.6(RET):c.2598C>G (p.Ala866=)
|
rs202029768
|
|
NM_020975.6(RET):c.2599G>A (p.Glu867Lys)
|
rs758950128
|
|
NM_020975.6(RET):c.25G>T (p.Ala9Ser)
|
|
|
NM_020975.6(RET):c.2601G>A (p.Glu867=)
|
rs141459368
|
|
NM_020975.6(RET):c.2604G>A (p.Met868Ile)
|
rs1838165300
|
|
NM_020975.6(RET):c.2607+10T>A
|
rs1319934228
|
|
NM_020975.6(RET):c.2607+11A>G
|
|
|
NM_020975.6(RET):c.2607+12T>C
|
|
|
NM_020975.6(RET):c.2607+15C>T
|
|
|
NM_020975.6(RET):c.2607+19G>A
|
rs1385656561
|
|
NM_020975.6(RET):c.2607+20C>A
|
|
|
NM_020975.6(RET):c.2607+20C>T
|
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2607+5G>C
|
|
|
NM_020975.6(RET):c.2607+9A>G
|
rs863224427
|
|
NM_020975.6(RET):c.2607+9A>T
|
rs863224427
|
|
NM_020975.6(RET):c.2608-10T>C
|
|
|
NM_020975.6(RET):c.2608-14A>G
|
|
|
NM_020975.6(RET):c.2608-16C>G
|
rs2132957809
|
|
NM_020975.6(RET):c.2608-16C>T
|
|
|
NM_020975.6(RET):c.2608-19G>A
|
rs773241624
|
|
NM_020975.6(RET):c.2608-20C>T
|
rs758516402
|
|
NM_020975.6(RET):c.2608-3C>T
|
|
|
NM_020975.6(RET):c.2608-5C>G
|
rs2132958072
|
|
NM_020975.6(RET):c.2608-6T>C
|
|
|
NM_020975.6(RET):c.2608-7C>G
|
|
|
NM_020975.6(RET):c.2608-8C>T
|
|
|
NM_020975.6(RET):c.2608-9del
|
|
|
NM_020975.6(RET):c.2608-9dup
|
|
|
NM_020975.6(RET):c.260G>A (p.Cys87Tyr)
|
|
|
NM_020975.6(RET):c.2616T>C (p.His872=)
|
|
|
NM_020975.6(RET):c.2617C>A (p.Arg873=)
|
rs1838178513
|
|
NM_020975.6(RET):c.2619G>A (p.Arg873=)
|
rs2132958733
|
|
NM_020975.6(RET):c.261C>T (p.Cys87=)
|
|
|
NM_020975.6(RET):c.2623T>C (p.Leu875=)
|
rs1588877642
|
|
NM_020975.6(RET):c.2623T>G (p.Leu875Val)
|
rs1588877642
|
|
NM_020975.6(RET):c.2628A>G (p.Ala876=)
|
|
|
NM_020975.6(RET):c.2629G>T (p.Ala877Ser)
|
|
|
NM_020975.6(RET):c.262A>C (p.Ile88Leu)
|
|
|
NM_020975.6(RET):c.2631C>T (p.Ala877=)
|
|
|
NM_020975.6(RET):c.2631del (p.Arg878fs)
|
rs1838178970
|
|
NM_020975.6(RET):c.2634A>G (p.Arg878=)
|
rs2132959423
|
|
NM_020975.6(RET):c.2637C>T (p.Asn879=)
|
rs1363015786
|
|
NM_020975.6(RET):c.2640C>T (p.Ile880=)
|
rs2132959836
|
|
NM_020975.6(RET):c.2641C>G (p.Leu881Val)
|
rs377767427
|
|
NM_020975.6(RET):c.2641C>T (p.Leu881=)
|
rs377767427
|
|
NM_020975.6(RET):c.2644G>A (p.Val882Ile)
|
rs2132960093
|
|
NM_020975.6(RET):c.2647G>A (p.Ala883Thr)
|
rs377767428
|
|
NM_020975.6(RET):c.2647G>C (p.Ala883Pro)
|
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2648C>T (p.Ala883Val)
|
|
|
NM_020975.6(RET):c.2649T>A (p.Ala883=)
|
rs2132960541
|
|
NM_020975.6(RET):c.2653G>T (p.Gly885Trp)
|
rs201487882
|
|
NM_020975.6(RET):c.2655G>A (p.Gly885=)
|
rs2132960866
|
|
NM_020975.6(RET):c.2656C>G (p.Arg886Gly)
|
|
|
NM_020975.6(RET):c.2659A>C (p.Lys887Gln)
|
|
|
NM_020975.6(RET):c.265C>A (p.Gln89Lys)
|
rs2132663101
|
|
NM_020975.6(RET):c.2662A>G (p.Met888Val)
|
rs774930499
|
|
NM_020975.6(RET):c.2664G>A (p.Met888Ile)
|
|
|
NM_020975.6(RET):c.266A>G (p.Gln89Arg)
|
rs1564489449
|
|
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)
|
|
|
NM_020975.6(RET):c.2682C>T (p.Gly894=)
|
|
|
NM_020975.6(RET):c.2686T>A (p.Ser896Thr)
|
rs2132962610
|
|
NM_020975.6(RET):c.2688C>A (p.Ser896=)
|
rs2132962713
|
|
NM_020975.6(RET):c.2688C>T (p.Ser896=)
|
|
|
NM_020975.6(RET):c.2689C>G (p.Arg897Gly)
|
|
|
NM_020975.6(RET):c.2689C>T (p.Arg897Ter)
|
rs1060500759
|
|
NM_020975.6(RET):c.268G>T (p.Glu90Ter)
|
rs1588862638
|
|
NM_020975.6(RET):c.2692G>C (p.Asp898His)
|
rs587780810
|
|
NM_020975.6(RET):c.2692G>T (p.Asp898Tyr)
|
rs587780810
|
|
NM_020975.6(RET):c.2694T>G (p.Asp898Glu)
|
rs1060500758
|
|
NM_020975.6(RET):c.2695G>A (p.Val899Ile)
|
|
|
NM_020975.6(RET):c.2699A>C (p.Tyr900Ser)
|
|
|
NM_020975.6(RET):c.269A>G (p.Glu90Gly)
|
|
|
NM_020975.6(RET):c.2700T>C (p.Tyr900=)
|
rs1185622721
|
|
NM_020975.6(RET):c.2705A>C (p.Glu902Ala)
|
rs2132963709
|
|
NM_020975.6(RET):c.2705A>G (p.Glu902Gly)
|
|
|
NM_020975.6(RET):c.2706G>A (p.Glu902=)
|
|
|
NM_020975.6(RET):c.2708A>G (p.Asp903Gly)
|
rs1423488525
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2711C>G (p.Ser904Cys)
|
rs267607011
|
|
NM_020975.6(RET):c.2711C>T (p.Ser904Phe)
|
rs267607011
|
|
NM_020975.6(RET):c.2711_2712delinsTG (p.Ser904Leu)
|
|
|
NM_020975.6(RET):c.2712C>A (p.Ser904=)
|
rs1800863
|
|
NM_020975.6(RET):c.2715C>A (p.Tyr905Ter)
|
|
|
NM_020975.6(RET):c.2716G>A (p.Val906Met)
|
rs200627072
|
|
NM_020975.6(RET):c.2718G>T (p.Val906=)
|
rs1369983912
|
|
NM_020975.6(RET):c.2719A>C (p.Lys907Gln)
|
rs377767430
|
|
NM_020975.6(RET):c.271G>T (p.Asp91Tyr)
|
|
|
NM_020975.6(RET):c.2720A>T (p.Lys907Met)
|
rs377767431
|
|
NM_020975.6(RET):c.2721G>A (p.Lys907=)
|
|
|
NM_020975.6(RET):c.2722A>C (p.Arg908=)
|
|
|
NM_020975.6(RET):c.2723G>A (p.Arg908Lys)
|
rs753156691
|
|
NM_020975.6(RET):c.2730+11C>T
|
|
|
NM_020975.6(RET):c.2730+12del
|
rs770024338
|
|
NM_020975.6(RET):c.2730+16G>T
|
|
|
NM_020975.6(RET):c.2730+17A>C
|
|
|
NM_020975.6(RET):c.2730+3G>A
|
|
|
NM_020975.6(RET):c.2730+5C>T
|
rs864622296
|
|
NM_020975.6(RET):c.2730+6C>T
|
|
|
NM_020975.6(RET):c.2730+7A>T
|
|
|
NM_020975.6(RET):c.2731-11C>G
|
rs566489997
|
|
NM_020975.6(RET):c.2731-11C>T
|
|
|
NM_020975.6(RET):c.2731-13A>G
|
rs1223648532
|
|
NM_020975.6(RET):c.2731-15C>G
|
|
|
NM_020975.6(RET):c.2731-18A>G
|
rs2132983528
|
|
NM_020975.6(RET):c.2731-20T>C
|
rs571552488
|
|
NM_020975.6(RET):c.2731-5T>C
|
|
|
NM_020975.6(RET):c.2731-6C>T
|
|
|
NM_020975.6(RET):c.2731-7T>C
|
|
|
NM_020975.6(RET):c.2731-8C>G
|
rs1564499958
|
|
NM_020975.6(RET):c.2731-8_2731-6del
|
rs2132983658
|
|
NM_020975.6(RET):c.2734C>T (p.Arg912Trp)
|
rs1838227061
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
NM_020975.6(RET):c.2736G>T (p.Arg912=)
|
|
|
NM_020975.6(RET):c.2742A>C (p.Pro914=)
|
rs375963128
|
|
NM_020975.6(RET):c.2748A>C (p.Lys916Asn)
|
|
|
NM_020975.6(RET):c.2748A>G (p.Lys916=)
|
|
|
NM_020975.6(RET):c.274A>G (p.Thr92Ala)
|
rs1188786351
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2756C>A (p.Ala919Glu)
|
|
|
NM_020975.6(RET):c.2757A>G (p.Ala919=)
|
rs1838227942
|
|
NM_020975.6(RET):c.275C>G (p.Thr92Ser)
|
|
|
NM_020975.6(RET):c.2760T>C (p.Ile920=)
|
|
|
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)
|
rs377767432
|
|
NM_020975.6(RET):c.2765C>T (p.Ser922Phe)
|
rs377767432
|
|
NM_020975.6(RET):c.276C>G (p.Thr92=)
|
rs886042820
|
|
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr)
|
rs1838228352
|
|
NM_020975.6(RET):c.2776C>A (p.His926Asn)
|
|
|
NM_020975.6(RET):c.2776C>T (p.His926Tyr)
|
rs774215008
|
|
NM_020975.6(RET):c.2778T>G (p.His926Gln)
|
rs1838228562
|
|
NM_020975.6(RET):c.2779A>C (p.Ile927Leu)
|
rs893151989
|
|
NM_020975.6(RET):c.2781C>G (p.Ile927Met)
|
rs1838228721
|
|
NM_020975.6(RET):c.2781C>T (p.Ile927=)
|
|
|
NM_020975.6(RET):c.2787C>A (p.Thr929=)
|
rs747648232
|
|
NM_020975.6(RET):c.2787C>T (p.Thr929=)
|
rs747648232
|
|
NM_020975.6(RET):c.2788A>G (p.Thr930Ala)
|
|
|
NM_020975.6(RET):c.2789C>G (p.Thr930Arg)
|
|
|
NM_020975.6(RET):c.2789C>T (p.Thr930Met)
|
rs1838228966
|
|
NM_020975.6(RET):c.278G>A (p.Gly93Asp)
|
|
|
NM_020975.6(RET):c.2790G>C (p.Thr930=)
|
rs746599792
|
|
NM_020975.6(RET):c.2791C>A (p.Gln931Lys)
|
|
|
NM_020975.6(RET):c.2799T>C (p.Asp933=)
|
|
|
NM_020975.6(RET):c.279C>A (p.Gly93=)
|
rs1168926729
|
|
NM_020975.6(RET):c.279C>T (p.Gly93=)
|
|
|
NM_020975.6(RET):c.2801+11del
|
rs2132987306
|
|
NM_020975.6(RET):c.2801+12T>C
|
|
|
NM_020975.6(RET):c.2801+13G>A
|
rs2132987373
|
|
NM_020975.6(RET):c.2801+15T>C
|
|
|
NM_020975.6(RET):c.2801+17C>T
|
rs2132987446
|
|
NM_020975.6(RET):c.2801+19C>A
|
|
|
NM_020975.6(RET):c.2801+19C>G
|
|
|
NM_020975.6(RET):c.2801+19C>T
|
|
|
NM_020975.6(RET):c.2801+3A>G
|
rs768284486
|
|
NM_020975.6(RET):c.2801+7G>A
|
rs1588878699
|
|
NM_020975.6(RET):c.2801+7G>T
|
|
|
NM_020975.6(RET):c.2801+8T>C
|
rs2132987232
|
|
NM_020975.6(RET):c.2801+8_2801+9del
|
rs1445588303
|
|
NM_020975.6(RET):c.2802-10C>T
|
|
|
NM_020975.6(RET):c.2802-10CT[2]
|
|
|
NM_020975.6(RET):c.2802-13del
|
|
|
NM_020975.6(RET):c.2802-16C>T
|
|
|
NM_020975.6(RET):c.2802-17C>A
|
|
|
NM_020975.6(RET):c.2802-17C>G
|
rs750812195
|
|
NM_020975.6(RET):c.2802-19_2802-18insC
|
|
|
NM_020975.6(RET):c.2802-20_2802-19delinsTT
|
rs2133003390
|
|
NM_020975.6(RET):c.2802-3C>A
|
rs754733091
|
|
NM_020975.6(RET):c.2802-3C>T
|
|
|
NM_020975.6(RET):c.2802-4G>A
|
|
|
NM_020975.6(RET):c.2802-4G>C
|
rs878855061
|
|
NM_020975.6(RET):c.2802-8C>G
|
rs2133003582
|
|
NM_020975.6(RET):c.2802-8C>T
|
|
|
NM_020975.6(RET):c.2802-9T>G
|
rs1588879476
|
|
NM_020975.6(RET):c.2802A>T (p.Val934=)
|
rs2133003717
|
|
NM_020975.6(RET):c.280C>G (p.Leu94Val)
|
rs1837621025
|
|
NM_020975.6(RET):c.2814T>C (p.Gly938=)
|
rs1838267124
|
|
NM_020975.6(RET):c.2817C>T (p.Val939=)
|
rs2133003827
|
|
NM_020975.6(RET):c.2818C>T (p.Leu940=)
|
|
|
NM_020975.6(RET):c.2819T>C (p.Leu940Pro)
|
|
|
NM_020975.6(RET):c.2822T>C (p.Leu941Pro)
|
|
|
NM_020975.6(RET):c.2823G>A (p.Leu941=)
|
rs747696868
|
|
NM_020975.6(RET):c.2830A>C (p.Ile944Leu)
|
|
|
NM_020975.6(RET):c.2832C>G (p.Ile944Met)
|
rs755606269
|
|
NM_020975.6(RET):c.2833G>T (p.Val945Leu)
|
|
|
NM_020975.6(RET):c.2834T>C (p.Val945Ala)
|
rs1408196943
|
|
NM_020975.6(RET):c.2838C>G (p.Thr946=)
|
|
|
NM_020975.6(RET):c.2839C>T (p.Leu947=)
|
rs1027913092
|
|
NM_020975.6(RET):c.2843G>C (p.Gly948Ala)
|
|
|
NM_020975.6(RET):c.2846G>T (p.Gly949Val)
|
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.2848A>C (p.Asn950His)
|
|
|
NM_020975.6(RET):c.2849A>G (p.Asn950Ser)
|
|
|
NM_020975.6(RET):c.2850C>T (p.Asn950=)
|
rs2133004987
|
|
NM_020975.6(RET):c.2853C>G (p.Pro951=)
|
|
|
NM_020975.6(RET):c.2859T>G (p.Pro953=)
|
|
|
NM_020975.6(RET):c.2862G>A (p.Gly954=)
|
rs1060504036
|
|
NM_020975.6(RET):c.2865dup (p.Pro956fs)
|
rs1564500612
|
|
NM_020975.6(RET):c.2866C>T (p.Pro956Ser)
|
|
|
NM_020975.6(RET):c.2867C>T (p.Pro956Leu)
|
rs1838269153
|
|
NM_020975.6(RET):c.2871T>C (p.Pro957=)
|
rs2133005496
|
|
NM_020975.6(RET):c.2872G>C (p.Glu958Gln)
|
|
|
NM_020975.6(RET):c.2874G>A (p.Glu958=)
|
rs1588879531
|
|
NM_020975.6(RET):c.2875C>A (p.Arg959=)
|
|
|
NM_020975.6(RET):c.2875C>G (p.Arg959Gly)
|
|
|
NM_020975.6(RET):c.2877G>T (p.Arg959=)
|
rs2133005808
|
|
NM_020975.6(RET):c.2880C>T (p.Leu960=)
|
rs1588879539
|
|
NM_020975.6(RET):c.2883C>T (p.Phe961=)
|
|
|
NM_020975.6(RET):c.2886C>T (p.Asn962=)
|
rs772329940
|
|
NM_020975.6(RET):c.288C>T (p.Tyr96=)
|
rs1431744747
|
|
NM_020975.6(RET):c.2890C>G (p.Leu964Val)
|
rs533682776
|
|
NM_020975.6(RET):c.2895G>A (p.Lys965=)
|
|
|
NM_020975.6(RET):c.2898C>A (p.Thr966=)
|
|
|
NM_020975.6(RET):c.2898C>G (p.Thr966=)
|
|
|
NM_020975.6(RET):c.289C>G (p.Leu97Val)
|
|
|
NM_020975.6(RET):c.28G>A (p.Gly10Arg)
|
|
|
NM_020975.6(RET):c.2900G>A (p.Gly967Asp)
|
rs1838270446
|
|
NM_020975.6(RET):c.2901C>T (p.Gly967=)
|
rs2133006358
|
|
NM_020975.6(RET):c.2906G>A (p.Arg969Gln)
|
|
|
NM_020975.6(RET):c.2908A>T (p.Met970Leu)
|
|
|
NM_020975.6(RET):c.2913G>A (p.Glu971=)
|
rs876660184
|
|
NM_020975.6(RET):c.2914A>C (p.Arg972=)
|
rs76534745
|
|
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)
|
rs76534745
|
|
NM_020975.6(RET):c.2922C>T (p.Asp974=)
|
rs2133006784
|
|
NM_020975.6(RET):c.2923A>T (p.Asn975Tyr)
|
rs1194221807
|
|
NM_020975.6(RET):c.2924A>T (p.Asn975Ile)
|
|
|
NM_020975.6(RET):c.2928C>T (p.Cys976=)
|
|
|
NM_020975.6(RET):c.2931C>T (p.Ser977=)
|
rs375414982
|
|
NM_020975.6(RET):c.2932G>C (p.Glu978Gln)
|
|
|
NM_020975.6(RET):c.2939+10G>C
|
rs2133007338
|
|
NM_020975.6(RET):c.2939+10del
|
rs1554819978
|
|
NM_020975.6(RET):c.2939+10dup
|
|
|
NM_020975.6(RET):c.2939+12C>G
|
|
|
NM_020975.6(RET):c.2939+16C>T
|
rs2133007408
|
|
NM_020975.6(RET):c.2939+3G>A
|
rs2133007253
|
|
NM_020975.6(RET):c.2939+3G>C
|
rs2133007253
|
|
NM_020975.6(RET):c.2939+4_2939+5del
|
|
|
NM_020975.6(RET):c.2939T>C (p.Met980Thr)
|
|
|
NM_020975.6(RET):c.2940-10T>C
|
|
|
NM_020975.6(RET):c.2940-11C>T
|
|
|
NM_020975.6(RET):c.2940-12T>C
|
|
|
NM_020975.6(RET):c.2940-13C>T
|
rs2133015664
|
|
NM_020975.6(RET):c.2940-18G>A
|
|
|
NM_020975.6(RET):c.2940-20C>T
|
|
|
NM_020975.6(RET):c.2940-3C>T
|
|
|
NM_020975.6(RET):c.2940-4C>T
|
rs2133015776
|
|
NM_020975.6(RET):c.2940-5A>T
|
rs2133015763
|
|
NM_020975.6(RET):c.2940-6C>T
|
|
|
NM_020975.6(RET):c.2940-9T>C
|
|
|
NM_020975.6(RET):c.2940-9T>G
|
|
|
NM_020975.6(RET):c.2940G>A (p.Met980Ile)
|
|
|
NM_020975.6(RET):c.2944C>A (p.Arg982Ser)
|
|
|
NM_020975.6(RET):c.2945G>T (p.Arg982Leu)
|
rs368550200
|
|
NM_020975.6(RET):c.2952G>A (p.Met984Ile)
|
|
|
NM_020975.6(RET):c.2953C>T (p.Leu985=)
|
|
|
NM_020975.6(RET):c.2954T>G (p.Leu985Arg)
|
rs1240309421
|
|
NM_020975.6(RET):c.2955G>A (p.Leu985=)
|
|
|
NM_020975.6(RET):c.2958A>G (p.Gln986=)
|
rs2133016266
|
|
NM_020975.6(RET):c.295C>T (p.Arg99Trp)
|
rs1333641674
|
|
NM_020975.6(RET):c.2965A>G (p.Lys989Glu)
|
rs1554820052
|
|
NM_020975.6(RET):c.2967G>T (p.Lys989Asn)
|
rs2133016421
|
|
NM_020975.6(RET):c.2971_2972delinsAG (p.Glu991Arg)
|
|
|
NM_020975.6(RET):c.2974C>G (p.Pro992Ala)
|
|
|
NM_020975.6(RET):c.2975C>A (p.Pro992Gln)
|
|
|
NM_020975.6(RET):c.2975C>G (p.Pro992Arg)
|
|
|
NM_020975.6(RET):c.2975C>T (p.Pro992Leu)
|
rs758191409
|
|
NM_020975.6(RET):c.2976G>C (p.Pro992=)
|
rs528823385
|
|
NM_020975.6(RET):c.2977G>A (p.Asp993Asn)
|
|
|
NM_020975.6(RET):c.297G>A (p.Arg99=)
|
|
|
NM_020975.6(RET):c.2980A>C (p.Lys994Gln)
|
rs1490223704
|
|
NM_020975.6(RET):c.2980A>G (p.Lys994Glu)
|
rs1490223704
|
|
NM_020975.6(RET):c.2982A>G (p.Lys994=)
|
|
|
NM_020975.6(RET):c.2985G>A (p.Arg995=)
|
rs1252674267
|
|
NM_020975.6(RET):c.2987C>T (p.Pro996Leu)
|
rs1588880114
|
|
NM_020975.6(RET):c.2989G>T (p.Val997Leu)
|
|
|
NM_020975.6(RET):c.2991G>A (p.Val997=)
|
rs1564501216
|
|
NM_020975.6(RET):c.2992T>G (p.Phe998Val)
|
rs2133017302
|
|
NM_020975.6(RET):c.2994T>C (p.Phe998=)
|
|
|
NM_020975.6(RET):c.2995G>A (p.Ala999Thr)
|
rs1363037947
|
|
NM_020975.6(RET):c.2996C>G (p.Ala999Gly)
|
|
|
NM_020975.6(RET):c.2998G>A (p.Asp1000Asn)
|
rs2133017433
|
|
NM_020975.6(RET):c.2999A>G (p.Asp1000Gly)
|
|
|
NM_020975.6(RET):c.299G>A (p.Ser100Asn)
|
rs1554817407
|
|
NM_020975.6(RET):c.29G>A (p.Gly10Glu)
|
rs1303812507
|
|
NM_020975.6(RET):c.29G>C (p.Gly10Ala)
|
rs1303812507
|
|
NM_020975.6(RET):c.29G>T (p.Gly10Val)
|
rs1303812507
|
|
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)
|
|
|
NM_020975.6(RET):c.3000C>T (p.Asp1000=)
|
rs2133017462
|
|
NM_020975.6(RET):c.3003C>T (p.Ile1001=)
|
rs1385462063
|
|
NM_020975.6(RET):c.3007A>C (p.Lys1003Gln)
|
rs1392503702
|
|
NM_020975.6(RET):c.3007A>G (p.Lys1003Glu)
|
rs1392503702
|
|
NM_020975.6(RET):c.3008A>G (p.Lys1003Arg)
|
|
|
NM_020975.6(RET):c.300C>T (p.Ser100=)
|
rs898964408
|
|
NM_020975.6(RET):c.3011A>G (p.Asp1004Gly)
|
rs1328724775
|
|
NM_020975.6(RET):c.3015G>T (p.Leu1005=)
|
|
|
NM_020975.6(RET):c.3016G>C (p.Glu1006Gln)
|
|
|
NM_020975.6(RET):c.3017A>G (p.Glu1006Gly)
|
|
|
NM_020975.6(RET):c.3018G>C (p.Glu1006Asp)
|
|
|
NM_020975.6(RET):c.3019A>G (p.Lys1007Glu)
|
rs774840230
|
|
NM_020975.6(RET):c.3020A>T (p.Lys1007Met)
|
|
|
NM_020975.6(RET):c.3021G>C (p.Lys1007Asn)
|
rs786204098
|
|
NM_020975.6(RET):c.3021G>T (p.Lys1007Asn)
|
rs786204098
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
NM_020975.6(RET):c.3026T>A (p.Met1009Lys)
|
rs375213011
|
|
NM_020975.6(RET):c.3026T>G (p.Met1009Arg)
|
|
|
NM_020975.6(RET):c.3027_3039+19dup
|
|
|
NM_020975.6(RET):c.3028G>T (p.Val1010Phe)
|
rs1554820081
|
|
NM_020975.6(RET):c.3030T>C (p.Val1010=)
|
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
NM_020975.6(RET):c.3033G>A (p.Lys1011=)
|
|
|
NM_020975.6(RET):c.3033G>C (p.Lys1011Asn)
|
|
|
NM_020975.6(RET):c.3033GAG[1] (p.Arg1013del)
|
rs1838299309
|
|
NM_020975.6(RET):c.3035G>A (p.Arg1012Lys)
|
|
|
NM_020975.6(RET):c.3038G>A (p.Arg1013Lys)
|
rs1838299542
|
|
NM_020975.6(RET):c.3038G>C (p.Arg1013Thr)
|
rs1838299542
|
|
NM_020975.6(RET):c.3039+11_3039+12delinsTC
|
|
|
NM_020975.6(RET):c.3039+18A>G
|
rs1838300264
|
|
NM_020975.6(RET):c.3039+19T>C
|
rs2133018583
|
|
NM_020975.6(RET):c.3039+7G>T
|
rs761410293
|
|
NM_020975.6(RET):c.3039+9C>T
|
|
|
NM_020975.6(RET):c.3039+9del
|
rs1442745002
|
|
NM_020975.6(RET):c.3040-10T>C
|
|
|
NM_020975.6(RET):c.3040-11C>G
|
rs1057517646
|
|
NM_020975.6(RET):c.3040-11C>T
|
rs1057517646
|
|
NM_020975.6(RET):c.3040-13C>G
|
|
|
NM_020975.6(RET):c.3040-13C>T
|
rs1838332583
|
|
NM_020975.6(RET):c.3040-16C>T
|
|
|
NM_020975.6(RET):c.3040-2A>G
|
rs2133032257
|
|
NM_020975.6(RET):c.3040-3C>T
|
|
|
NM_020975.6(RET):c.3040-4C>A
|
rs2133032215
|
|
NM_020975.6(RET):c.3040-8T>C
|
rs2133032145
|
|
NM_020975.6(RET):c.3040-9G>C
|
|
|
NM_020975.6(RET):c.3043T>A (p.Tyr1015Asn)
|
|
|
NM_020975.6(RET):c.3043T>C (p.Tyr1015His)
|
|
|
NM_020975.6(RET):c.3043T>G (p.Tyr1015Asp)
|
|
|
NM_020975.6(RET):c.3046T>A (p.Leu1016Met)
|
rs2133032658
|
|
NM_020975.6(RET):c.3047T>C (p.Leu1016Ser)
|
|
|
NM_020975.6(RET):c.3048G>C (p.Leu1016Phe)
|
|
|
NM_020975.6(RET):c.3049G>A (p.Asp1017Asn)
|
rs1554820153
|
|
NM_020975.6(RET):c.304G>C (p.Asp102His)
|
|
|
NM_020975.6(RET):c.3050A>G (p.Asp1017Gly)
|
rs762414334
|
|
NM_020975.6(RET):c.3051C>A (p.Asp1017Glu)
|
|
|
NM_020975.6(RET):c.3051C>T (p.Asp1017=)
|
rs993057046
|
|
NM_020975.6(RET):c.3052C>A (p.Leu1018Ile)
|
rs766330880
|
|
NM_020975.6(RET):c.3053T>G (p.Leu1018Arg)
|
|
|
NM_020975.6(RET):c.3056C>G (p.Ala1019Gly)
|
rs1371891301
|
|
NM_020975.6(RET):c.3056C>T (p.Ala1019Val)
|
rs1371891301
|
|
NM_020975.6(RET):c.3057G>T (p.Ala1019=)
|
rs369579749
|
|
NM_020975.6(RET):c.3058G>C (p.Ala1020Pro)
|
|
|
NM_020975.6(RET):c.3060_3062del (p.Ser1021del)
|
rs1564501844
|
|
NM_020975.6(RET):c.3064A>G (p.Thr1022Ala)
|
|
|
NM_020975.6(RET):c.3065C>A (p.Thr1022Asn)
|
|
|
NM_020975.6(RET):c.3068C>T (p.Pro1023Leu)
|
rs138912894
|
|
NM_020975.6(RET):c.3069A>G (p.Pro1023=)
|
rs1588880984
|
|
NM_020975.6(RET):c.3069A>T (p.Pro1023=)
|
rs1588880984
|
|
NM_020975.6(RET):c.306C>T (p.Asp102=)
|
rs1588862691
|
|
NM_020975.6(RET):c.3071C>G (p.Ser1024Cys)
|
|
|
NM_020975.6(RET):c.3075C>T (p.Asp1025=)
|
rs1838334962
|
|
NM_020975.6(RET):c.3076T>C (p.Ser1026Pro)
|
rs1588880990
|
|
NM_020975.6(RET):c.3076T>G (p.Ser1026Ala)
|
|
|
NM_020975.6(RET):c.3077C>A (p.Ser1026Tyr)
|
rs1588880993
|
|
NM_020975.6(RET):c.3077C>T (p.Ser1026Phe)
|
rs1588880993
|
|
NM_020975.6(RET):c.3078C>A (p.Ser1026=)
|
|
|
NM_020975.6(RET):c.3079C>A (p.Leu1027Met)
|
|
|
NM_020975.6(RET):c.3079C>G (p.Leu1027Val)
|
rs1564501868
|
|
NM_020975.6(RET):c.307C>T (p.His103Tyr)
|
rs1217820916
|
|
NM_020975.6(RET):c.3081G>A (p.Leu1027=)
|
rs1838335372
|
|
NM_020975.6(RET):c.3086A>G (p.Tyr1029Cys)
|
|
|
NM_020975.6(RET):c.3089ACG[1] (p.Asp1031del)
|
rs1260448063
|
|
NM_020975.6(RET):c.3090C>A (p.Asp1030Glu)
|
|
|
NM_020975.6(RET):c.3094G>T (p.Gly1032Cys)
|
rs757373375
|
|
NM_020975.6(RET):c.3095G>A (p.Gly1032Asp)
|
rs1838335979
|
|
NM_020975.6(RET):c.3096C>T (p.Gly1032=)
|
|
|
NM_020975.6(RET):c.3097C>T (p.Leu1033Phe)
|
|
|
NM_020975.6(RET):c.309T>C (p.His103=)
|
|
|
NM_020975.6(RET):c.30G>T (p.Gly10=)
|
rs1050242868
|
|
NM_020975.6(RET):c.3106G>A (p.Glu1036Lys)
|
rs1838336457
|
|
NM_020975.6(RET):c.3106G>C (p.Glu1036Gln)
|
|
|
NM_020975.6(RET):c.3112A>T (p.Thr1038Ser)
|
rs201740483
|
|
NM_020975.6(RET):c.3115C>A (p.Pro1039Thr)
|
rs2133035293
|
|
NM_020975.6(RET):c.3115C>G (p.Pro1039Ala)
|
rs2133035293
|
|
NM_020975.6(RET):c.3115C>T (p.Pro1039Ser)
|
|
|
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln)
|
rs79853121
|
|
NM_020975.6(RET):c.3116C>G (p.Pro1039Arg)
|
|
|
NM_020975.6(RET):c.3118C>G (p.Leu1040Val)
|
|
|
NM_020975.6(RET):c.3118C>T (p.Leu1040=)
|
|
|
NM_020975.6(RET):c.311G>T (p.Ser104Ile)
|
|
|
NM_020975.6(RET):c.3120G>A (p.Leu1040=)
|
|
|
NM_020975.6(RET):c.3121G>A (p.Val1041Met)
|
|
|
NM_020975.6(RET):c.3121G>T (p.Val1041Leu)
|
rs2133035526
|
|
NM_020975.6(RET):c.3122T>C (p.Val1041Ala)
|
rs1554820165
|
|
NM_020975.6(RET):c.3123G>A (p.Val1041=)
|
rs147437610
|
|
NM_020975.6(RET):c.3126C>A (p.Asp1042Glu)
|
|
|
NM_020975.6(RET):c.3126C>G (p.Asp1042Glu)
|
rs1554820168
|
|
NM_020975.6(RET):c.3127T>G (p.Cys1043Gly)
|
rs1367574614
|
|
NM_020975.6(RET):c.3128G>A (p.Cys1043Tyr)
|
|
|
NM_020975.6(RET):c.3132T>G (p.Asn1044Lys)
|
|
|
NM_020975.6(RET):c.3133A>G (p.Asn1045Asp)
|
|
|
NM_020975.6(RET):c.3133A>T (p.Asn1045Tyr)
|
|
|
NM_020975.6(RET):c.3135T>C (p.Asn1045=)
|
rs1217348681
|
|
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp)
|
rs945693739
|
|
NM_020975.6(RET):c.3137C>T (p.Ala1046Val)
|
|
|
NM_020975.6(RET):c.3138C>G (p.Ala1046=)
|
rs201576838
|
|
NM_020975.6(RET):c.3138_3139delinsTT (p.Pro1047Ser)
|
rs1838338388
|
|
NM_020975.6(RET):c.3141C>A (p.Pro1047=)
|
rs372673589
|
|
NM_020975.6(RET):c.3141C>G (p.Pro1047=)
|
rs372673589
|
|
NM_020975.6(RET):c.3141C>T (p.Pro1047=)
|
|
|
NM_020975.6(RET):c.3142C>G (p.Leu1048Val)
|
rs774347808
|
|
NM_020975.6(RET):c.3143T>C (p.Leu1048Pro)
|
|
|
NM_020975.6(RET):c.3144C>G (p.Leu1048=)
|
|
|
NM_020975.6(RET):c.3145C>T (p.Pro1049Ser)
|
rs1588881090
|
|
NM_020975.6(RET):c.3146C>G (p.Pro1049Arg)
|
|
|
NM_020975.6(RET):c.3146C>T (p.Pro1049Leu)
|
rs1490712863
|
|
NM_020975.6(RET):c.3149G>T (p.Arg1050Leu)
|
|
|
NM_020975.6(RET):c.3149_3150delinsCT (p.Arg1050Pro)
|
|
|
NM_020975.6(RET):c.314C>T (p.Ser105Phe)
|
rs1588862705
|
|
NM_020975.6(RET):c.3151G>A (p.Ala1051Thr)
|
rs2133036726
|
|
NM_020975.6(RET):c.3152C>T (p.Ala1051Val)
|
rs1564501944
|
|
NM_020975.6(RET):c.3153C>A (p.Ala1051=)
|
rs755946631
|
|
NM_020975.6(RET):c.3153C>G (p.Ala1051=)
|
rs755946631
|
|
NM_020975.6(RET):c.3154C>G (p.Leu1052Val)
|
rs1564501947
|
|
NM_020975.6(RET):c.3155T>C (p.Leu1052Pro)
|
rs2133036884
|
|
NM_020975.6(RET):c.3157C>A (p.Pro1053Thr)
|
rs754066766
|
|
NM_020975.6(RET):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_020975.6(RET):c.3158C>T (p.Pro1053Leu)
|
|
|
NM_020975.6(RET):c.3162C>G (p.Ser1054=)
|
rs2133037102
|
|
NM_020975.6(RET):c.3162C>T (p.Ser1054=)
|
rs2133037102
|
|
NM_020975.6(RET):c.3163A>C (p.Thr1055Pro)
|
rs1439440590
|
|
NM_020975.6(RET):c.3163A>G (p.Thr1055Ala)
|
|
|
NM_020975.6(RET):c.3163A>T (p.Thr1055Ser)
|
|
|
NM_020975.6(RET):c.3164C>A (p.Thr1055Lys)
|
|
|
NM_020975.6(RET):c.3164C>T (p.Thr1055Ile)
|
|
|
NM_020975.6(RET):c.3167G>A (p.Trp1056Ter)
|
rs1425454966
|
|
NM_020975.6(RET):c.3168G>C (p.Trp1056Cys)
|
|
|
NM_020975.6(RET):c.3169A>G (p.Ile1057Val)
|
rs750501039
|
|
NM_020975.6(RET):c.3169A>T (p.Ile1057Phe)
|
|
|
NM_020975.6(RET):c.3170T>A (p.Ile1057Asn)
|
|
|
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr)
|
rs758877145
|
|
NM_020975.6(RET):c.3172G>A (p.Glu1058Lys)
|
rs1838340845
|
|
NM_020975.6(RET):c.3173A>C (p.Glu1058Ala)
|
|
|
NM_020975.6(RET):c.3173A>G (p.Glu1058Gly)
|
rs780578577
|
|
NM_020975.6(RET):c.3173A>T (p.Glu1058Val)
|
rs780578577
|
|
NM_020975.6(RET):c.3175A>C (p.Asn1059His)
|
rs1055571837
|
|
NM_020975.6(RET):c.3175A>G (p.Asn1059Asp)
|
rs1055571837
|
|
NM_020975.6(RET):c.3175A>T (p.Asn1059Tyr)
|
|
|
NM_020975.6(RET):c.3176A>T (p.Asn1059Ile)
|
rs772395752
|
|
NM_020975.6(RET):c.3177C>A (p.Asn1059Lys)
|
rs1014122393
|
|
NM_020975.6(RET):c.3177C>G (p.Asn1059Lys)
|
rs1014122393
|
|
NM_020975.6(RET):c.3177C>T (p.Asn1059=)
|
rs1014122393
|
|
NM_020975.6(RET):c.3179A>T (p.Lys1060Ile)
|
|
|
NM_020975.6(RET):c.317G>A (p.Trp106Ter)
|
rs2132664970
|
|
NM_020975.6(RET):c.3180A>C (p.Lys1060Asn)
|
rs1361161086
|
|
NM_020975.6(RET):c.3180A>T (p.Lys1060Asn)
|
rs1361161086
|
|
NM_020975.6(RET):c.3182T>A (p.Leu1061His)
|
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.3182T>G (p.Leu1061Arg)
|
rs536486113
|
|
NM_020975.6(RET):c.3183C>G (p.Leu1061=)
|
rs2133037902
|
|
NM_020975.6(RET):c.3183C>T (p.Leu1061=)
|
|
|
NM_020975.6(RET):c.3184T>A (p.Tyr1062Asn)
|
rs138010639
|
|
NM_020975.6(RET):c.3184T>G (p.Tyr1062Asp)
|
rs138010639
|
|
NM_020975.6(RET):c.3185A>C (p.Tyr1062Ser)
|
|
|
NM_020975.6(RET):c.3187+12C>A
|
rs897706317
|
|
NM_020975.6(RET):c.3187+12C>T
|
rs897706317
|
|
NM_020975.6(RET):c.3187+13A>G
|
|
|
NM_020975.6(RET):c.3187+14T>C
|
rs2133038456
|
|
NM_020975.6(RET):c.3187+15G>A
|
rs1177156248
|
|
NM_020975.6(RET):c.3187+15_3187+16delinsTT
|
|
|
NM_020975.6(RET):c.3187+16C>T
|
|
|
NM_020975.6(RET):c.3187+17A>G
|
|
|
NM_020975.6(RET):c.3187+1G>C
|
|
|
NM_020975.6(RET):c.3187+20T>C
|
rs2133038565
|
|
NM_020975.6(RET):c.3187+3A>G
|
|
|
NM_020975.6(RET):c.3187+4G>T
|
|
|
NM_020975.6(RET):c.3187+5A>C
|
rs1457645623
|
|
NM_020975.6(RET):c.3187+6A>G
|
|
|
NM_020975.6(RET):c.3187+6dup
|
rs2133038243
|
|
NM_020975.6(RET):c.3187+7T>C
|
rs2133038267
|
|
NM_020975.6(RET):c.3187+9T>C
|
rs2133038319
|
|
NM_020975.6(RET):c.3187+9T>G
|
|
|
NM_020975.6(RET):c.3187G>A (p.Gly1063Ser)
|
rs1564502015
|
|
NM_020975.6(RET):c.3187G>C (p.Gly1063Arg)
|
rs1564502015
|
|
NM_020975.6(RET):c.3188-15T>A
|
rs1588881831
|
|
NM_020975.6(RET):c.3188-16C>G
|
|
|
NM_020975.6(RET):c.3188-19G>A
|
|
|
NM_020975.6(RET):c.3188-1G>C
|
rs1588881837
|
|
NM_020975.6(RET):c.3188-2A>G
|
rs1554820302
|
|
NM_020975.6(RET):c.3188-3T>C
|
rs2133047522
|
|
NM_020975.6(RET):c.3188-3del
|
rs1838373407
|
|
NM_020975.6(RET):c.3188-6T>C
|
rs2133047490
|
|
NM_020975.6(RET):c.318G>A (p.Trp106Ter)
|
rs2132664999
|
|
NM_020975.6(RET):c.3190A>C (p.Met1064Leu)
|
|
|
NM_020975.6(RET):c.3196G>A (p.Asp1066Asn)
|
rs180700967
|
|
NM_020975.6(RET):c.3198C>T (p.Asp1066=)
|
rs2133047683
|
|
NM_020975.6(RET):c.319G>A (p.Glu107Lys)
|
rs1025290394
|
|
NM_020975.6(RET):c.31C>G (p.Leu11Val)
|
rs587780812
|
|
NM_020975.6(RET):c.31C>T (p.Leu11=)
|
rs587780812
|
|
NM_020975.6(RET):c.3201G>A (p.Pro1067=)
|
rs878855062
|
|
NM_020975.6(RET):c.3203del (p.Asn1068fs)
|
rs878855063
|
|
NM_020975.6(RET):c.3204C>A (p.Asn1068Lys)
|
|
|
NM_020975.6(RET):c.3209C>G (p.Pro1070Arg)
|
|
|
NM_020975.6(RET):c.320A>G (p.Glu107Gly)
|
rs2132665054
|
|
NM_020975.6(RET):c.3211G>A (p.Gly1071Arg)
|
rs1321512022
|
|
NM_020975.6(RET):c.3214G>C (p.Glu1072Gln)
|
|
|
NM_020975.6(RET):c.3215A>G (p.Glu1072Gly)
|
|
|
NM_020975.6(RET):c.3217_3218dup (p.Ser1073fs)
|
rs1428704590
|
|
NM_020975.6(RET):c.3219T>A (p.Ser1073Arg)
|
rs1838374750
|
|
NM_020975.6(RET):c.3222dup (p.Val1075fs)
|
rs1838374810
|
|
NM_020975.6(RET):c.3223G>A (p.Val1075Ile)
|
|
|
NM_020975.6(RET):c.3223G>C (p.Val1075Leu)
|
|
|
NM_020975.6(RET):c.3226C>A (p.Pro1076Thr)
|
|
|
NM_020975.6(RET):c.3226C>T (p.Pro1076Ser)
|
rs2133048192
|
|
NM_020975.6(RET):c.3230T>C (p.Leu1077Pro)
|
|
|
NM_020975.6(RET):c.3231C>A (p.Leu1077=)
|
|
|
NM_020975.6(RET):c.3231C>G (p.Leu1077=)
|
rs765409417
|
|
NM_020975.6(RET):c.3233C>G (p.Thr1078Arg)
|
rs762952212
|
|
NM_020975.6(RET):c.3234G>A (p.Thr1078=)
|
rs766376008
|
|
NM_020975.6(RET):c.3240T>C (p.Ala1080=)
|
|
|
NM_020975.6(RET):c.3241G>A (p.Asp1081Asn)
|
rs745955777
|
|
NM_020975.6(RET):c.3244G>A (p.Gly1082Ser)
|
|
|
NM_020975.6(RET):c.3245G>A (p.Gly1082Asp)
|
rs1554820310
|
|
NM_020975.6(RET):c.3247A>G (p.Thr1083Ala)
|
rs878855064
|
|
NM_020975.6(RET):c.3247_3254del (p.Thr1083fs)
|
rs1838375749
|
|
NM_020975.6(RET):c.3249T>C (p.Thr1083=)
|
rs2133048607
|
|
NM_020975.6(RET):c.3252C>T (p.Asn1084=)
|
rs1172754809
|
|
NM_020975.6(RET):c.3262C>T (p.Pro1088Ser)
|
|
|
NM_020975.6(RET):c.3265A>C (p.Arg1089=)
|
rs864622486
|
|
NM_020975.6(RET):c.3265A>G (p.Arg1089Gly)
|
rs864622486
|
|
NM_020975.6(RET):c.3266G>A (p.Arg1089Lys)
|
|
|
NM_020975.6(RET):c.3266G>T (p.Arg1089Ile)
|
rs1245283352
|
|
NM_020975.6(RET):c.3268T>C (p.Tyr1090His)
|
|
|
NM_020975.6(RET):c.3270T>C (p.Tyr1090=)
|
rs745469112
|
|
NM_020975.6(RET):c.3271C>A (p.Pro1091Thr)
|
rs1564502605
|
|
NM_020975.6(RET):c.3275A>G (p.Asn1092Ser)
|
rs757852794
|
|
NM_020975.6(RET):c.3277G>A (p.Asp1093Asn)
|
rs1838376422
|
|
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)
|
rs1564502609
|
|
NM_020975.6(RET):c.3279T>C (p.Asp1093=)
|
rs864622608
|
|
NM_020975.6(RET):c.3280A>C (p.Ser1094Arg)
|
rs1171787901
|
|
NM_020975.6(RET):c.3281G>T (p.Ser1094Ile)
|
|
|
NM_020975.6(RET):c.3282T>C (p.Ser1094=)
|
|
|
NM_020975.6(RET):c.3283G>A (p.Val1095Ile)
|
|
|
NM_020975.6(RET):c.3284T>A (p.Val1095Glu)
|
|
|
NM_020975.6(RET):c.3285A>G (p.Val1095=)
|
rs1838376770
|
|
NM_020975.6(RET):c.3288T>C (p.Tyr1096=)
|
|
|
NM_020975.6(RET):c.3291T>C (p.Ala1097=)
|
|
|
NM_020975.6(RET):c.3294C>A (p.Asn1098Lys)
|
rs1298393691
|
|
NM_020975.6(RET):c.3295T>C (p.Trp1099Arg)
|
|
|
NM_020975.6(RET):c.3297G>A (p.Trp1099Ter)
|
|
|
NM_020975.6(RET):c.3298A>G (p.Met1100Val)
|
rs2133049527
|
|
NM_020975.6(RET):c.3299T>C (p.Met1100Thr)
|
|
|
NM_020975.6(RET):c.329G>A (p.Ser110Asn)
|
rs764421264
|
|
NM_020975.6(RET):c.3300G>C (p.Met1100Ile)
|
rs747917164
|
|
NM_020975.6(RET):c.3302T>A (p.Leu1101His)
|
|
|
NM_020975.6(RET):c.3302T>C (p.Leu1101Pro)
|
|
|
NM_020975.6(RET):c.3303T>C (p.Leu1101=)
|
rs1554820320
|
|
NM_020975.6(RET):c.3303T>G (p.Leu1101=)
|
|
|
NM_020975.6(RET):c.3305C>T (p.Ser1102Leu)
|
rs773306778
|
|
NM_020975.6(RET):c.3308C>T (p.Pro1103Leu)
|
|
|
NM_020975.6(RET):c.330T>C (p.Ser110=)
|
rs1264565618
|
|
NM_020975.6(RET):c.3310T>C (p.Ser1104Pro)
|
|
|
NM_020975.6(RET):c.3311C>T (p.Ser1104Leu)
|
rs1838377764
|
|
NM_020975.6(RET):c.3312A>G (p.Ser1104=)
|
|
|
NM_020975.6(RET):c.3316G>A (p.Ala1106Thr)
|
rs1838377953
|
|
NM_020975.6(RET):c.3321A>G (p.Lys1107=)
|
rs1588881974
|
|
NM_020975.6(RET):c.3322T>C (p.Leu1108=)
|
|
|
NM_020975.6(RET):c.3322T>G (p.Leu1108Val)
|
|
|
NM_020975.6(RET):c.3325A>G (p.Met1109Val)
|
|
|
NM_020975.6(RET):c.3337G>A (p.Asp1113Asn)
|
rs1838378725
|
|
NM_020975.6(RET):c.3339T>C (p.Asp1113=)
|
rs1198032104
|
|
NM_020975.6(RET):c.3340A>T (p.Ser1114Cys)
|
|
|
NM_020975.6(RET):c.3342T>G (p.Ser1114Arg)
|
rs2133050305
|
|
NM_020975.6(RET):c.335G>T (p.Arg112Leu)
|
|
|
NM_020975.6(RET):c.336C>A (p.Arg112=)
|
|
|
NM_020975.6(RET):c.336C>T (p.Arg112=)
|
|
|
NM_020975.6(RET):c.337+10C>T
|
rs1837623555
|
|
NM_020975.6(RET):c.337+11C>A
|
rs754967305
|
|
NM_020975.6(RET):c.337+12_337+14del
|
rs2132665877
|
|
NM_020975.6(RET):c.337+14C>T
|
|
|
NM_020975.6(RET):c.337+16C>T
|
|
|
NM_020975.6(RET):c.337+17_337+28dup
|
rs1837623791
|
|
NM_020975.6(RET):c.337+19C>T
|
|
|
NM_020975.6(RET):c.337+6G>A
|
|
|
NM_020975.6(RET):c.337+8_337+9delinsTA
|
|
|
NM_020975.6(RET):c.337A>G (p.Asn113Asp)
|
|
|
NM_020975.6(RET):c.338-10C>G
|
|
|
NM_020975.6(RET):c.338-10C>T
|
rs375524825
|
|
NM_020975.6(RET):c.338-13C>T
|
|
|
NM_020975.6(RET):c.338-14A>C
|
|
|
NM_020975.6(RET):c.338-15G>C
|
|
|
NM_020975.6(RET):c.338-17C>G
|
|
|
NM_020975.6(RET):c.338-18C>T
|
|
|
NM_020975.6(RET):c.338-25_338-17del
|
rs1404649841
|
|
NM_020975.6(RET):c.338-4G>A
|
|
|
NM_020975.6(RET):c.338-6C>T
|
rs2132677196
|
|
NM_020975.6(RET):c.338-8C>T
|
|
|
NM_020975.6(RET):c.338-9T>A
|
|
|
NM_020975.6(RET):c.339C>A (p.Asn113Lys)
|
|
|
NM_020975.6(RET):c.341G>T (p.Arg114Leu)
|
|
|
NM_020975.6(RET):c.343G>A (p.Gly115Ser)
|
rs1588863889
|
|
NM_020975.6(RET):c.346T>A (p.Phe116Ile)
|
rs1439820916
|
|
NM_020975.6(RET):c.346T>C (p.Phe116Leu)
|
|
|
NM_020975.6(RET):c.349C>G (p.Pro117Ala)
|
|
|
NM_020975.6(RET):c.349C>T (p.Pro117Ser)
|
rs868523779
|
|
NM_020975.6(RET):c.34C>G (p.Arg12Gly)
|
rs2132498232
|
|
NM_020975.6(RET):c.34C>T (p.Arg12Cys)
|
|
|
NM_020975.6(RET):c.350C>G (p.Pro117Arg)
|
rs763295929
|
|
NM_020975.6(RET):c.350C>T (p.Pro117Leu)
|
|
|
NM_020975.6(RET):c.351C>G (p.Pro117=)
|
|
|
NM_020975.6(RET):c.351C>T (p.Pro117=)
|
rs267602487
|
|
NM_020975.6(RET):c.354G>A (p.Leu118=)
|
|
|
NM_020975.6(RET):c.354G>C (p.Leu118=)
|
|
|
NM_020975.6(RET):c.357C>T (p.Leu119=)
|
rs2132677889
|
|
NM_020975.6(RET):c.35G>A (p.Arg12His)
|
rs2132498277
|
|
NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu)
|
rs1837065209
|
|
NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu)
|
rs1467944441
|
|
NM_020975.6(RET):c.360C>T (p.Thr120=)
|
|
|
NM_020975.6(RET):c.362T>A (p.Val121Asp)
|
|
|
NM_020975.6(RET):c.363C>T (p.Val121=)
|
rs1837658478
|
|
NM_020975.6(RET):c.366C>T (p.Tyr122=)
|
|
|
NM_020975.6(RET):c.367C>A (p.Leu123Ile)
|
|
|
NM_020975.6(RET):c.369C>A (p.Leu123=)
|
|
|
NM_020975.6(RET):c.371A>G (p.Lys124Arg)
|
rs773868504
|
|
NM_020975.6(RET):c.372G>C (p.Lys124Asn)
|
rs2132678369
|
|
NM_020975.6(RET):c.375C>T (p.Val125=)
|
|
|
NM_020975.6(RET):c.376T>C (p.Phe126Leu)
|
rs2132678531
|
|
NM_020975.6(RET):c.378C>T (p.Phe126=)
|
|
|
NM_020975.6(RET):c.379C>A (p.Leu127Met)
|
|
|
NM_020975.6(RET):c.379C>T (p.Leu127=)
|
|
|
NM_020975.6(RET):c.381G>C (p.Leu127=)
|
rs2132678686
|
|
NM_020975.6(RET):c.383C>T (p.Ser128Leu)
|
|
|
NM_020975.6(RET):c.385C>G (p.Pro129Ala)
|
rs2132678836
|
|
NM_020975.6(RET):c.387C>T (p.Pro129=)
|
rs955600914
|
|
NM_020975.6(RET):c.388A>G (p.Thr130Ala)
|
rs1588863938
|
|
NM_020975.6(RET):c.390A>G (p.Thr130=)
|
|
|
NM_020975.6(RET):c.393C>G (p.Ser131=)
|
|
|
NM_020975.6(RET):c.394C>A (p.Leu132Ile)
|
rs1554817540
|
|
NM_020975.6(RET):c.394C>G (p.Leu132Val)
|
rs1554817540
|
|
NM_020975.6(RET):c.394C>T (p.Leu132Phe)
|
rs1554817540
|
|
NM_020975.6(RET):c.395T>G (p.Leu132Arg)
|
|
|
NM_020975.6(RET):c.396T>A (p.Leu132=)
|
|
|
NM_020975.6(RET):c.396T>C (p.Leu132=)
|
rs2132679255
|
|
NM_020975.6(RET):c.396T>G (p.Leu132=)
|
|
|
NM_020975.6(RET):c.398G>C (p.Arg133Pro)
|
rs138265837
|
|
NM_020975.6(RET):c.398G>T (p.Arg133Leu)
|
|
|
NM_020975.6(RET):c.39G>A (p.Leu13=)
|
|
|
NM_020975.6(RET):c.39G>C (p.Leu13=)
|
|
|
NM_020975.6(RET):c.400G>A (p.Glu134Lys)
|
rs2132679409
|
|
NM_020975.6(RET):c.407A>G (p.Glu136Gly)
|
|
|
NM_020975.6(RET):c.408G>A (p.Glu136=)
|
|
|
NM_020975.6(RET):c.408G>C (p.Glu136Asp)
|
|
|
NM_020975.6(RET):c.40_41insGGTTGC (p.Leu13_Leu14insArgLeu)
|
rs1157129061
|
|
NM_020975.6(RET):c.413A>G (p.Gln138Arg)
|
|
|
NM_020975.6(RET):c.414G>A (p.Gln138=)
|
rs1588863961
|
|
NM_020975.6(RET):c.418C>G (p.Pro140Ala)
|
|
|
NM_020975.6(RET):c.41T>C (p.Leu14Pro)
|
rs2132498406
|
|
NM_020975.6(RET):c.421G>A (p.Gly141Ser)
|
|
|
NM_020975.6(RET):c.422G>C (p.Gly141Ala)
|
rs770840152
|
|
NM_020975.6(RET):c.423C>G (p.Gly141=)
|
rs1554817548
|
|
NM_020975.6(RET):c.423C>T (p.Gly141=)
|
rs1554817548
|
|
NM_020975.6(RET):c.426T>C (p.Cys142=)
|
|
|
NM_020975.6(RET):c.428C>T (p.Ala143Val)
|
rs1564490082
|
|
NM_020975.6(RET):c.429C>T (p.Ala143=)
|
|
|
NM_020975.6(RET):c.42G>C (p.Leu14=)
|
|
|
NM_020975.6(RET):c.435A>G (p.Val145=)
|
|
|
NM_020975.6(RET):c.436T>C (p.Tyr146His)
|
|
|
NM_020975.6(RET):c.438C>T (p.Tyr146=)
|
rs1837660442
|
|
NM_020975.6(RET):c.43_44insGGC (p.Leu14_Leu15insTrp)
|
rs2132498515
|
|
NM_020975.6(RET):c.43_48dup (p.Leu19_Pro20insLeuLeu)
|
|
|
NM_020975.6(RET):c.43_51del (p.Leu17_Leu19del)
|
rs1488217326
|
|
NM_020975.6(RET):c.43_51dup (p.Leu19_Pro20insLeuLeuLeu)
|
rs1488217326
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
NM_020975.6(RET):c.443_445del (p.Ser148del)
|
|
|
NM_020975.6(RET):c.444C>T (p.Ser148=)
|
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
NM_020975.6(RET):c.44T>C (p.Leu15Ser)
|
rs2132498541
|
|
NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del)
|
rs768132465
|
|
NM_020975.6(RET):c.44TGC[4] (p.Leu19del)
|
rs768132465
|
|
NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.44TGC[7] (p.Leu19_Pro20insLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.450C>T (p.Phe150=)
|
rs2132680883
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
NM_020975.6(RET):c.454A>G (p.Thr152Ala)
|
|
|
NM_020975.6(RET):c.455C>T (p.Thr152Ile)
|
rs1837661343
|
|
NM_020975.6(RET):c.457T>A (p.Ser153Thr)
|
rs1341922880
|
|
NM_020975.6(RET):c.458C>A (p.Ser153Tyr)
|
|
|
NM_020975.6(RET):c.462T>C (p.Phe154=)
|
rs948436105
|
|
NM_020975.6(RET):c.467C>T (p.Ala156Val)
|
rs1588864039
|
|
NM_020975.6(RET):c.471C>T (p.Cys157=)
|
|
|
NM_020975.6(RET):c.475T>A (p.Ser159Thr)
|
rs2132681533
|
|
NM_020975.6(RET):c.477C>T (p.Ser159=)
|
|
|
NM_020975.6(RET):c.478C>T (p.Leu160Phe)
|
rs747536732
|
|
NM_020975.6(RET):c.47T>A (p.Leu16Gln)
|
rs1564480893
|
|
NM_020975.6(RET):c.482A>G (p.Lys161Arg)
|
|
|
NM_020975.6(RET):c.483G>A (p.Lys161=)
|
rs2132681767
|
|
NM_020975.6(RET):c.483G>T (p.Lys161Asn)
|
|
|
NM_020975.6(RET):c.484C>A (p.Pro162Thr)
|
rs1564490122
|
|
NM_020975.6(RET):c.484C>G (p.Pro162Ala)
|
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.485C>A (p.Pro162His)
|
rs1205703835
|
|
NM_020975.6(RET):c.485C>G (p.Pro162Arg)
|
|
|
NM_020975.6(RET):c.486C>G (p.Pro162=)
|
|
|
NM_020975.6(RET):c.487C>A (p.Arg163=)
|
rs371153966
|
|
NM_020975.6(RET):c.487C>T (p.Arg163Trp)
|
rs371153966
|
|
NM_020975.6(RET):c.48G>A (p.Leu16=)
|
|
|
NM_020975.6(RET):c.499T>C (p.Phe167Leu)
|
|
|
NM_020975.6(RET):c.49C>T (p.Leu17=)
|
rs1328756940
|
|
NM_020975.6(RET):c.503C>T (p.Pro168Leu)
|
|
|
NM_020975.6(RET):c.505G>A (p.Glu169Lys)
|
|
|
NM_020975.6(RET):c.505G>C (p.Glu169Gln)
|
|
|
NM_020975.6(RET):c.507G>A (p.Glu169=)
|
|
|
NM_020975.6(RET):c.507G>C (p.Glu169Asp)
|
|
|
NM_020975.6(RET):c.50T>C (p.Leu17Pro)
|
rs1837066964
|
|
NM_020975.6(RET):c.512G>T (p.Arg171Met)
|
|
|
NM_020975.6(RET):c.516C>T (p.Pro172=)
|
rs1588864070
|
|
NM_020975.6(RET):c.520T>G (p.Phe174Val)
|
|
|
NM_020975.6(RET):c.522C>T (p.Phe174=)
|
|
|
NM_020975.6(RET):c.523C>G (p.Arg175Gly)
|
rs1057521088
|
|
NM_020975.6(RET):c.523C>T (p.Arg175Cys)
|
rs1057521088
|
|
NM_020975.6(RET):c.524G>A (p.Arg175His)
|
rs774097284
|
|
NM_020975.6(RET):c.524G>T (p.Arg175Leu)
|
|
|
NM_020975.6(RET):c.525_530dup (p.Arg177_Glu178insIleArg)
|
|
|
NM_020975.6(RET):c.526A>T (p.Ile176Phe)
|
rs1588864080
|
|
NM_020975.6(RET):c.528T>A (p.Ile176=)
|
rs556686338
|
|
NM_020975.6(RET):c.529C>G (p.Arg177Gly)
|
|
|
NM_020975.6(RET):c.52C>T (p.Leu18=)
|
rs2132498926
|
|
NM_020975.6(RET):c.531G>A (p.Arg177=)
|
|
|
NM_020975.6(RET):c.535A>G (p.Asn179Asp)
|
rs2132682955
|
|
NM_020975.6(RET):c.536A>G (p.Asn179Ser)
|
rs1060500757
|
|
NM_020975.6(RET):c.537C>T (p.Asn179=)
|
rs1837664079
|
|
NM_020975.6(RET):c.538C>T (p.Arg180Ter)
|
rs76449634
|
|
NM_020975.6(RET):c.53T>C (p.Leu18Pro)
|
rs2132498957
|
|
NM_020975.6(RET):c.541C>T (p.Pro181Ser)
|
|
|
NM_020975.6(RET):c.544C>T (p.Pro182Ser)
|
rs775086466
|
|
NM_020975.6(RET):c.546A>G (p.Pro182=)
|
|
|
NM_020975.6(RET):c.549C>G (p.Gly183=)
|
|
|
NM_020975.6(RET):c.549C>T (p.Gly183=)
|
|
|
NM_020975.6(RET):c.550A>G (p.Thr184Ala)
|
rs753301491
|
|
NM_020975.6(RET):c.551C>T (p.Thr184Ile)
|
rs1837665130
|
|
NM_020975.6(RET):c.553T>C (p.Phe185Leu)
|
rs1048022444
|
|
NM_020975.6(RET):c.555C>A (p.Phe185Leu)
|
|
|
NM_020975.6(RET):c.555C>T (p.Phe185=)
|
rs2132683519
|
|
NM_020975.6(RET):c.559C>G (p.Gln187Glu)
|
|
|
NM_020975.6(RET):c.560A>G (p.Gln187Arg)
|
|
|
NM_020975.6(RET):c.561G>A (p.Gln187=)
|
rs764162555
|
|
NM_020975.6(RET):c.561G>C (p.Gln187His)
|
rs764162555
|
|
NM_020975.6(RET):c.561G>T (p.Gln187His)
|
|
|
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
|
|
|
NM_020975.6(RET):c.564C>T (p.Phe188=)
|
|
|
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.566G>T (p.Arg189Leu)
|
rs753707182
|
|
NM_020975.6(RET):c.567C>T (p.Arg189=)
|
rs2132683772
|
|
NM_020975.6(RET):c.569T>C (p.Leu190Pro)
|
|
|
NM_020975.6(RET):c.569TGC[1] (p.Leu191del)
|
rs2132683821
|
|
NM_020975.6(RET):c.56T>C (p.Leu19Pro)
|
|
|
NM_020975.6(RET):c.572T>A (p.Leu191Gln)
|
|
|
NM_020975.6(RET):c.572T>C (p.Leu191Pro)
|
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu)
|
rs878855065
|
|
NM_020975.6(RET):c.582G>C (p.Gln194His)
|
rs368116579
|
|
NM_020975.6(RET):c.586T>C (p.Leu196=)
|
rs2132684088
|
|
NM_020975.6(RET):c.588G>C (p.Leu196Phe)
|
rs2132684107
|
|
NM_020975.6(RET):c.588G>T (p.Leu196Phe)
|
|
|
NM_020975.6(RET):c.58C>T (p.Pro20Ser)
|
rs1205904653
|
|
NM_020975.6(RET):c.591C>T (p.Cys197=)
|
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
NM_020975.6(RET):c.593C>T (p.Pro198Leu)
|
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.59C>G (p.Pro20Arg)
|
rs1837067697
|
|
NM_020975.6(RET):c.59C>T (p.Pro20Leu)
|
rs1837067697
|
|
NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro)
|
rs1064796534
|
|
NM_020975.6(RET):c.5C>A (p.Ala2Glu)
|
|
|
NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)
|
rs1837063549
|
|
NM_020975.6(RET):c.602G>A (p.Ser201Asn)
|
|
|
NM_020975.6(RET):c.609C>A (p.Ala203=)
|
|
|
NM_020975.6(RET):c.60G>A (p.Pro20=)
|
rs1263991822
|
|
NM_020975.6(RET):c.60_65del (p.Leu21_Leu22del)
|
rs1837067951
|
|
NM_020975.6(RET):c.610T>A (p.Tyr204Asn)
|
|
|
NM_020975.6(RET):c.613A>G (p.Arg205Gly)
|
rs1564490234
|
|
NM_020975.6(RET):c.613A>T (p.Arg205Trp)
|
rs1564490234
|
|
NM_020975.6(RET):c.614G>A (p.Arg205Lys)
|
rs1177806121
|
|
NM_020975.6(RET):c.614G>T (p.Arg205Met)
|
rs1177806121
|
|
NM_020975.6(RET):c.615G>C (p.Arg205Ser)
|
|
|
NM_020975.6(RET):c.616C>T (p.Leu206Phe)
|
|
|
NM_020975.6(RET):c.619C>T (p.Leu207=)
|
rs2132684723
|
|
NM_020975.6(RET):c.61C>T (p.Leu21=)
|
rs2132499288
|
|
NM_020975.6(RET):c.621G>A (p.Leu207=)
|
rs1343290853
|
|
NM_020975.6(RET):c.622G>C (p.Glu208Gln)
|
rs1588864215
|
|
NM_020975.6(RET):c.623A>C (p.Glu208Ala)
|
rs1170238577
|
|
NM_020975.6(RET):c.624G>C (p.Glu208Asp)
|
|
|
NM_020975.6(RET):c.624G>T (p.Glu208Asp)
|
rs781750106
|
|
NM_020975.6(RET):c.625+12C>A
|
|
|
NM_020975.6(RET):c.625+14T>C
|
|
|
NM_020975.6(RET):c.625+16G>T
|
|
|
NM_020975.6(RET):c.625+19G>A
|
rs2132685126
|
|
NM_020975.6(RET):c.625+7G>A
|
rs2132684957
|
|
NM_020975.6(RET):c.626-12C>T
|
|
|
NM_020975.6(RET):c.626-15C>G
|
|
|
NM_020975.6(RET):c.626-17G>A
|
rs2132702512
|
|
NM_020975.6(RET):c.626-18T>C
|
|
|
NM_020975.6(RET):c.626-18T>G
|
|
|
NM_020975.6(RET):c.626-19_626-18del
|
|
|
NM_020975.6(RET):c.626-8G>C
|
|
|
NM_020975.6(RET):c.626-9G>T
|
rs1333636410
|
|
NM_020975.6(RET):c.626G>A (p.Gly209Asp)
|
rs1837727267
|
|
NM_020975.6(RET):c.632G>A (p.Gly211Asp)
|
rs1060500756
|
|
NM_020975.6(RET):c.633T>C (p.Gly211=)
|
rs1371983599
|
|
NM_020975.6(RET):c.634C>G (p.Leu212Val)
|
|
|
NM_020975.6(RET):c.635T>C (p.Leu212Pro)
|
|
|
NM_020975.6(RET):c.636G>C (p.Leu212=)
|
rs2132702942
|
|
NM_020975.6(RET):c.637C>T (p.Pro213Ser)
|
rs1837727684
|
|
NM_020975.6(RET):c.638C>A (p.Pro213His)
|
rs1313234246
|
|
NM_020975.6(RET):c.638C>G (p.Pro213Arg)
|
rs1313234246
|
|
NM_020975.6(RET):c.639C>A (p.Pro213=)
|
|
|
NM_020975.6(RET):c.63G>A (p.Leu21=)
|
rs944333660
|
|
NM_020975.6(RET):c.63_64delinsCT (p.Leu21_Leu22=)
|
|
|
NM_020975.6(RET):c.640T>G (p.Phe214Val)
|
|
|
NM_020975.6(RET):c.643C>G (p.Arg215Gly)
|
|
|
NM_020975.6(RET):c.643C>T (p.Arg215Cys)
|
|
|
NM_020975.6(RET):c.644G>A (p.Arg215His)
|
rs748128929
|
|
NM_020975.6(RET):c.644G>T (p.Arg215Leu)
|
rs748128929
|
|
NM_020975.6(RET):c.645C>A (p.Arg215=)
|
|
|
NM_020975.6(RET):c.645C>G (p.Arg215=)
|
rs1837728202
|
|
NM_020975.6(RET):c.646T>C (p.Cys216Arg)
|
rs1837728315
|
|
NM_020975.6(RET):c.647G>A (p.Cys216Tyr)
|
|
|
NM_020975.6(RET):c.648C>T (p.Cys216=)
|
|
|
NM_020975.6(RET):c.649G>A (p.Ala217Thr)
|
rs1259626672
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.650C>T (p.Ala217Val)
|
rs1060500754
|
|
NM_020975.6(RET):c.651C>G (p.Ala217=)
|
|
|
NM_020975.6(RET):c.651C>T (p.Ala217=)
|
rs1588865918
|
|
NM_020975.6(RET):c.652C>G (p.Pro218Ala)
|
|
|
NM_020975.6(RET):c.653C>G (p.Pro218Arg)
|
|
|
NM_020975.6(RET):c.654G>T (p.Pro218=)
|
|
|
NM_020975.6(RET):c.657C>G (p.Asp219Glu)
|
rs1837729196
|
|
NM_020975.6(RET):c.659G>C (p.Ser220Thr)
|
|
|
NM_020975.6(RET):c.659G>T (p.Ser220Ile)
|
rs1182941467
|
|
NM_020975.6(RET):c.660C>T (p.Ser220=)
|
rs1588865937
|
|
NM_020975.6(RET):c.661C>T (p.Leu221=)
|
rs2132703566
|
|
NM_020975.6(RET):c.663G>A (p.Leu221=)
|
|
|
NM_020975.6(RET):c.664G>A (p.Glu222Lys)
|
rs1837729713
|
|
NM_020975.6(RET):c.666G>A (p.Glu222=)
|
rs1588865944
|
|
NM_020975.6(RET):c.668_669dup (p.Ser224Ter)
|
|
|
NM_020975.6(RET):c.670A>T (p.Ser224Cys)
|
|
|
NM_020975.6(RET):c.671G>C (p.Ser224Thr)
|
rs1837729986
|
|
NM_020975.6(RET):c.672C>T (p.Ser224=)
|
|
|
NM_020975.6(RET):c.674C>T (p.Thr225Met)
|
|
|
NM_020975.6(RET):c.675G>A (p.Thr225=)
|
|
|
NM_020975.6(RET):c.675G>C (p.Thr225=)
|
rs1837730338
|
|
NM_020975.6(RET):c.675_676delinsTT (p.Arg226Cys)
|
|
|
NM_020975.6(RET):c.676C>G (p.Arg226Gly)
|
|
|
NM_020975.6(RET):c.676C>T (p.Arg226Cys)
|
rs1455266037
|
|
NM_020975.6(RET):c.677G>A (p.Arg226His)
|
|
|
NM_020975.6(RET):c.677G>T (p.Arg226Leu)
|
|
|
NM_020975.6(RET):c.67G>A (p.Gly23Ser)
|
|
|
NM_020975.6(RET):c.682G>A (p.Ala228Thr)
|
rs760813493
|
|
NM_020975.6(RET):c.682G>T (p.Ala228Ser)
|
rs760813493
|
|
NM_020975.6(RET):c.683C>A (p.Ala228Asp)
|
rs2132704146
|
|
NM_020975.6(RET):c.685C>T (p.Leu229=)
|
|
|
NM_020975.6(RET):c.68G>A (p.Gly23Asp)
|
rs1554815546
|
|
NM_020975.6(RET):c.68G>T (p.Gly23Val)
|
rs1554815546
|
|
NM_020975.6(RET):c.697C>G (p.Gln233Glu)
|
|
|
NM_020975.6(RET):c.698A>G (p.Gln233Arg)
|
|
|
NM_020975.6(RET):c.698A>T (p.Gln233Leu)
|
|
|
NM_020975.6(RET):c.699G>A (p.Gln233=)
|
rs786203642
|
|
NM_020975.6(RET):c.699G>T (p.Gln233His)
|
rs786203642
|
|
NM_020975.6(RET):c.69C>G (p.Gly23=)
|
rs2132499469
|
|
NM_020975.6(RET):c.69C>T (p.Gly23=)
|
rs2132499469
|
|
NM_020975.6(RET):c.6G>T (p.Ala2=)
|
|
|
NM_020975.6(RET):c.700C>G (p.Arg234Gly)
|
|
|
NM_020975.6(RET):c.700C>T (p.Arg234Trp)
|
rs2132704554
|
|
NM_020975.6(RET):c.702G>T (p.Arg234=)
|
|
|
NM_020975.6(RET):c.705G>A (p.Glu235=)
|
rs1554817792
|
|
NM_020975.6(RET):c.711C>T (p.Tyr237=)
|
|
|
NM_020975.6(RET):c.712G>A (p.Glu238Lys)
|
rs1588866040
|
|
NM_020975.6(RET):c.714G>A (p.Glu238=)
|
|
|
NM_020975.6(RET):c.714G>T (p.Glu238Asp)
|
rs1588866043
|
|
NM_020975.6(RET):c.715C>G (p.Leu239Val)
|
rs1837732123
|
|
NM_020975.6(RET):c.716T>C (p.Leu239Pro)
|
|
|
NM_020975.6(RET):c.717G>A (p.Leu239=)
|
|
|
NM_020975.6(RET):c.720G>A (p.Val240=)
|
rs779382077
|
|
NM_020975.6(RET):c.723C>A (p.Ala241=)
|
rs544252468
|
|
NM_020975.6(RET):c.723C>G (p.Ala241=)
|
|
|
NM_020975.6(RET):c.724G>C (p.Val242Leu)
|
|
|
NM_020975.6(RET):c.726G>A (p.Val242=)
|
rs377193354
|
|
NM_020975.6(RET):c.726G>T (p.Val242=)
|
|
|
NM_020975.6(RET):c.73+10G>A
|
rs1052703455
|
|
NM_020975.6(RET):c.73+10G>C
|
rs1052703455
|
|
NM_020975.6(RET):c.73+11C>T
|
|
|
NM_020975.6(RET):c.73+12C>A
|
rs2132499693
|
|
NM_020975.6(RET):c.73+13G>A
|
|
|
NM_020975.6(RET):c.73+13G>T
|
|
|
NM_020975.6(RET):c.73+14G>A
|
|
|
NM_020975.6(RET):c.73+15C>G
|
|
|
NM_020975.6(RET):c.73+15C>T
|
|
|
NM_020975.6(RET):c.73+16C>A
|
|
|
NM_020975.6(RET):c.73+16C>T
|
|
|
NM_020975.6(RET):c.73+18C>T
|
|
|
NM_020975.6(RET):c.73+19C>G
|
|
|
NM_020975.6(RET):c.73+3G>A
|
|
|
NM_020975.6(RET):c.73+8C>G
|
rs1193805611
|
|
NM_020975.6(RET):c.73+9385_73+9395del
|
rs368137511
|
|
NM_020975.6(RET):c.73+9del
|
rs1588848600
|
|
NM_020975.6(RET):c.73+9dup
|
|
|
NM_020975.6(RET):c.731C>A (p.Thr244Asn)
|
|
|
NM_020975.6(RET):c.733G>A (p.Val245Met)
|
rs1837733068
|
|
NM_020975.6(RET):c.733G>T (p.Val245Leu)
|
|
|
NM_020975.6(RET):c.734T>G (p.Val245Gly)
|
|
|
NM_020975.6(RET):c.735G>A (p.Val245=)
|
rs1837733166
|
|
NM_020975.6(RET):c.735G>C (p.Val245=)
|
|
|
NM_020975.6(RET):c.735G>T (p.Val245=)
|
|
|
NM_020975.6(RET):c.736C>T (p.His246Tyr)
|
rs780756440
|
|
NM_020975.6(RET):c.738C>A (p.His246Gln)
|
rs769279838
|
|
NM_020975.6(RET):c.738C>G (p.His246Gln)
|
|
|
NM_020975.6(RET):c.738C>T (p.His246=)
|
rs769279838
|
|
NM_020975.6(RET):c.739G>A (p.Ala247Thr)
|
rs1837733537
|
|
NM_020975.6(RET):c.74-12_74-5del
|
rs2132655890
|
|
NM_020975.6(RET):c.74-15C>G
|
|
|
NM_020975.6(RET):c.74-17T>G
|
|
|
NM_020975.6(RET):c.74-18C>T
|
|
|
NM_020975.6(RET):c.74-20C>T
|
|
|
NM_020975.6(RET):c.74-2A>T
|
rs2132656224
|
|
NM_020975.6(RET):c.74-50G>T
|
rs766786245
|
|
NM_020975.6(RET):c.74-5C>T
|
rs1554817349
|
|
NM_020975.6(RET):c.740C>T (p.Ala247Val)
|
rs61843232
|
|
NM_020975.6(RET):c.742G>A (p.Gly248Ser)
|
rs1837733775
|
|
NM_020975.6(RET):c.744C>T (p.Gly248=)
|
rs1554817806
|
|
NM_020975.6(RET):c.745G>A (p.Ala249Thr)
|
rs1564491259
|
|
NM_020975.6(RET):c.746C>T (p.Ala249Val)
|
|
|
NM_020975.6(RET):c.748C>T (p.Arg250Cys)
|
rs1299878945
|
|
NM_020975.6(RET):c.749G>A (p.Arg250His)
|
|
|
NM_020975.6(RET):c.749G>T (p.Arg250Leu)
|
|
|
NM_020975.6(RET):c.751G>A (p.Glu251Lys)
|
rs562449603
|
|
NM_020975.6(RET):c.752AGG[1] (p.Glu252del)
|
rs1554817809
|
|
NM_020975.6(RET):c.757G>A (p.Val253Met)
|
rs587780816
|
|
NM_020975.6(RET):c.757G>C (p.Val253Leu)
|
|
|
NM_020975.6(RET):c.758dup (p.Val254fs)
|
|
|
NM_020975.6(RET):c.759G>A (p.Val253=)
|
|
|
NM_020975.6(RET):c.760G>A (p.Val254Met)
|
rs554862459
|
|
NM_020975.6(RET):c.760G>C (p.Val254Leu)
|
rs554862459
|
|
NM_020975.6(RET):c.760G>T (p.Val254Leu)
|
|
|
NM_020975.6(RET):c.764T>C (p.Met255Thr)
|
|
|
NM_020975.6(RET):c.768G>T (p.Val256=)
|
|
|
NM_020975.6(RET):c.769C>A (p.Pro257Thr)
|
|
|
NM_020975.6(RET):c.769C>T (p.Pro257Ser)
|
|
|
NM_020975.6(RET):c.76G>A (p.Ala26Thr)
|
|
|
NM_020975.6(RET):c.76G>T (p.Ala26Ser)
|
rs1554817350
|
|
NM_020975.6(RET):c.770C>T (p.Pro257Leu)
|
rs1277252937
|
|
NM_020975.6(RET):c.771C>T (p.Pro257=)
|
|
|
NM_020975.6(RET):c.773T>A (p.Phe258Tyr)
|
|
|
NM_020975.6(RET):c.77C>T (p.Ala26Val)
|
|
|
NM_020975.6(RET):c.783C>G (p.Thr261=)
|
|
|
NM_020975.6(RET):c.783C>T (p.Thr261=)
|
rs1488169498
|
|
NM_020975.6(RET):c.786G>A (p.Val262=)
|
rs1060504035
|
|
NM_020975.6(RET):c.788A>G (p.Tyr263Cys)
|
rs1837736594
|
|
NM_020975.6(RET):c.789C>T (p.Tyr263=)
|
rs1190726328
|
|
NM_020975.6(RET):c.78A>T (p.Ala26=)
|
rs2132656403
|
|
NM_020975.6(RET):c.791A>G (p.Asp264Gly)
|
rs1393343313
|
|
NM_020975.6(RET):c.792C>G (p.Asp264Glu)
|
rs1564491360
|
|
NM_020975.6(RET):c.793G>A (p.Glu265Lys)
|
|
|
NM_020975.6(RET):c.795G>A (p.Glu265=)
|
rs1554817821
|
|
NM_020975.6(RET):c.795G>C (p.Glu265Asp)
|
rs1554817821
|
|
NM_020975.6(RET):c.796G>A (p.Asp266Asn)
|
rs1554817823
|
|
NM_020975.6(RET):c.798C>T (p.Asp266=)
|
rs1588866198
|
|
NM_020975.6(RET):c.7A>G (p.Lys3Glu)
|
rs1564480827
|
|
NM_020975.6(RET):c.803C>G (p.Ser268Trp)
|
|
|
NM_020975.6(RET):c.804G>T (p.Ser268=)
|
|
|
NM_020975.6(RET):c.805G>C (p.Ala269Pro)
|
rs1564491376
|
|
NM_020975.6(RET):c.807G>A (p.Ala269=)
|
rs2132707887
|
|
NM_020975.6(RET):c.807G>C (p.Ala269=)
|
|
|
NM_020975.6(RET):c.808C>A (p.Pro270Thr)
|
|
|
NM_020975.6(RET):c.810C>A (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.810C>G (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.810C>T (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.813C>T (p.Thr271=)
|
|
|
NM_020975.6(RET):c.814T>C (p.Phe272Leu)
|
|
|
NM_020975.6(RET):c.815T>C (p.Phe272Ser)
|
rs2132708113
|
|
NM_020975.6(RET):c.815T>G (p.Phe272Cys)
|
|
|
NM_020975.6(RET):c.817C>A (p.Pro273Thr)
|
rs1588866219
|
|
NM_020975.6(RET):c.817C>T (p.Pro273Ser)
|
|
|
NM_020975.6(RET):c.819C>T (p.Pro273=)
|
rs864622467
|
|
NM_020975.6(RET):c.820G>A (p.Ala274Thr)
|
rs1837738287
|
|
NM_020975.6(RET):c.822G>A (p.Ala274=)
|
|
|
NM_020975.6(RET):c.822G>C (p.Ala274=)
|
|
|
NM_020975.6(RET):c.822G>T (p.Ala274=)
|
rs1287128584
|
|
NM_020975.6(RET):c.824G>A (p.Gly275Asp)
|
|
|
NM_020975.6(RET):c.824G>C (p.Gly275Ala)
|
rs143209223
|
|
NM_020975.6(RET):c.824_825delinsTT (p.Gly275Val)
|
rs1837738788
|
|
NM_020975.6(RET):c.826G>T (p.Val276Phe)
|
rs139213499
|
|
NM_020975.6(RET):c.828C>G (p.Val276=)
|
rs876660380
|
|
NM_020975.6(RET):c.830A>G (p.Asp277Gly)
|
|
|
NM_020975.6(RET):c.833C>G (p.Thr278Ser)
|
|
|
NM_020975.6(RET):c.834C>A (p.Thr278=)
|
|
|
NM_020975.6(RET):c.838A>G (p.Ser280Gly)
|
rs749244375
|
|
NM_020975.6(RET):c.839G>T (p.Ser280Ile)
|
|
|
NM_020975.6(RET):c.840C>T (p.Ser280=)
|
|
|
NM_020975.6(RET):c.841G>A (p.Ala281Thr)
|
|
|
NM_020975.6(RET):c.842C>G (p.Ala281Gly)
|
rs745642574
|
|
NM_020975.6(RET):c.843C>G (p.Ala281=)
|
rs770794801
|
|
NM_020975.6(RET):c.844G>A (p.Val282Met)
|
rs1588866293
|
|
NM_020975.6(RET):c.844G>T (p.Val282Leu)
|
|
|
NM_020975.6(RET):c.846G>A (p.Val282=)
|
rs1221096250
|
|
NM_020975.6(RET):c.846G>C (p.Val282=)
|
rs1221096250
|
|
NM_020975.6(RET):c.849G>A (p.Val283=)
|
rs1588866305
|
|
NM_020975.6(RET):c.850G>A (p.Glu284Lys)
|
rs1588866311
|
|
NM_020975.6(RET):c.850_852del (p.Glu284del)
|
|
|
NM_020975.6(RET):c.852G>A (p.Glu284=)
|
|
|
NM_020975.6(RET):c.853T>A (p.Phe285Ile)
|
|
|
NM_020975.6(RET):c.853T>C (p.Phe285Leu)
|
rs1554817836
|
|
NM_020975.6(RET):c.855C>G (p.Phe285Leu)
|
rs778909045
|
|
NM_020975.6(RET):c.857A>C (p.Lys286Thr)
|
rs745710576
|
|
NM_020975.6(RET):c.859C>A (p.Arg287=)
|
rs1588866335
|
|
NM_020975.6(RET):c.865G>A (p.Glu289Lys)
|
|
|
NM_020975.6(RET):c.865G>C (p.Glu289Gln)
|
rs1837741195
|
|
NM_020975.6(RET):c.867+10C>G
|
|
|
NM_020975.6(RET):c.867+10C>T
|
rs2132709415
|
|
NM_020975.6(RET):c.867+14C>G
|
|
|
NM_020975.6(RET):c.867+17G>A
|
|
|
NM_020975.6(RET):c.867+17_867+18del
|
|
|
NM_020975.6(RET):c.867+18C>T
|
|
|
NM_020975.6(RET):c.867+19T>C
|
|
|
NM_020975.6(RET):c.867+20G>A
|
|
|
NM_020975.6(RET):c.867+3G>A
|
rs2132709323
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
NM_020975.6(RET):c.867+6T>C
|
|
|
NM_020975.6(RET):c.867+7G>C
|
rs1588866349
|
|
NM_020975.6(RET):c.867+8T>A
|
|
|
NM_020975.6(RET):c.868-11G>A
|
rs1395130256
|
|
NM_020975.6(RET):c.868-11G>T
|
rs1395130256
|
|
NM_020975.6(RET):c.868-13C>G
|
|
|
NM_020975.6(RET):c.868-15C>T
|
|
|
NM_020975.6(RET):c.868-16C>T
|
|
|
NM_020975.6(RET):c.868-17C>T
|
|
|
NM_020975.6(RET):c.868-18G>T
|
rs57098408
|
|
NM_020975.6(RET):c.868-19C>T
|
rs1415274397
|
|
NM_020975.6(RET):c.868-20A>G
|
|
|
NM_020975.6(RET):c.868-2A>G
|
|
|
NM_020975.6(RET):c.868-4G>A
|
rs1414580503
|
|
NM_020975.6(RET):c.868-4G>T
|
|
|
NM_020975.6(RET):c.868-4del
|
rs1837775018
|
|
NM_020975.6(RET):c.868-7C>T
|
|
|
NM_020975.6(RET):c.868-9A>C
|
|
|
NM_020975.6(RET):c.870C>G (p.Asp290Glu)
|
rs2132718797
|
|
NM_020975.6(RET):c.873C>T (p.Thr291=)
|
rs1342683619
|
|
NM_020975.6(RET):c.874G>T (p.Val292Leu)
|
|
|
NM_020975.6(RET):c.875T>G (p.Val292Gly)
|
|
|
NM_020975.6(RET):c.87C>G (p.Leu29=)
|
rs1588862351
|
|
NM_020975.6(RET):c.882C>T (p.Ala294=)
|
|
|
NM_020975.6(RET):c.885G>A (p.Thr295=)
|
rs1202206539
|
|
NM_020975.6(RET):c.888G>T (p.Leu296=)
|
|
|
NM_020975.6(RET):c.889C>A (p.Arg297Ser)
|
|
|
NM_020975.6(RET):c.889C>T (p.Arg297Cys)
|
|
|
NM_020975.6(RET):c.890G>C (p.Arg297Pro)
|
|
|
NM_020975.6(RET):c.892G>A (p.Val298Ile)
|
rs1837776673
|
|
NM_020975.6(RET):c.89A>G (p.Tyr30Cys)
|
rs2132656815
|
|
NM_020975.6(RET):c.900T>C (p.Asp300=)
|
rs2132719382
|
|
NM_020975.6(RET):c.902C>A (p.Ala301Glu)
|
|
|
NM_020975.6(RET):c.902C>T (p.Ala301Val)
|
|
|
NM_020975.6(RET):c.903A>T (p.Ala301=)
|
|
|
NM_020975.6(RET):c.907G>A (p.Val303Met)
|
rs1588867164
|
|
NM_020975.6(RET):c.907G>C (p.Val303Leu)
|
|
|
NM_020975.6(RET):c.90C>T (p.Tyr30=)
|
rs1588862357
|
|
NM_020975.6(RET):c.910G>A (p.Val304Ile)
|
|
|
NM_020975.6(RET):c.913C>T (p.Pro305Ser)
|
|
|
NM_020975.6(RET):c.915T>A (p.Pro305=)
|
|
|
NM_020975.6(RET):c.916G>C (p.Ala306Pro)
|
|
|
NM_020975.6(RET):c.916G>T (p.Ala306Ser)
|
rs1837777521
|
|
NM_020975.6(RET):c.919T>C (p.Ser307Pro)
|
|
|
NM_020975.6(RET):c.920C>T (p.Ser307Leu)
|
rs1554817979
|
|
NM_020975.6(RET):c.921A>C (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.921A>G (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.921A>T (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.922G>A (p.Gly308Arg)
|
rs1060500763
|
|
NM_020975.6(RET):c.923G>T (p.Gly308Val)
|
|
|
NM_020975.6(RET):c.924G>A (p.Gly308=)
|
|
|
NM_020975.6(RET):c.925G>A (p.Glu309Lys)
|
rs769894584
|
|
NM_020975.6(RET):c.927G>A (p.Glu309=)
|
rs1588867192
|
|
NM_020975.6(RET):c.930G>C (p.Leu310=)
|
|
|
NM_020975.6(RET):c.931G>A (p.Val311Met)
|
rs1311500725
|
|
NM_020975.6(RET):c.931G>C (p.Val311Leu)
|
rs1311500725
|
|
NM_020975.6(RET):c.931G>T (p.Val311Leu)
|
rs1311500725
|
|
NM_020975.6(RET):c.936_939del (p.Arg312fs)
|
rs1837778621
|
|
NM_020975.6(RET):c.938G>T (p.Arg313Leu)
|
rs77702891
|
|
NM_020975.6(RET):c.942C>T (p.Tyr314=)
|
rs1554817988
|
|
NM_020975.6(RET):c.944C>T (p.Thr315Ile)
|
|
|
NM_020975.6(RET):c.948C>T (p.Ser316=)
|
rs2132720146
|
|
NM_020975.6(RET):c.950C>G (p.Thr317Arg)
|
|
|
NM_020975.6(RET):c.950C>T (p.Thr317Met)
|
rs760322514
|
|
NM_020975.6(RET):c.951G>A (p.Thr317=)
|
rs375812189
|
|
NM_020975.6(RET):c.952C>G (p.Leu318Val)
|
rs1235573033
|
|
NM_020975.6(RET):c.952C>T (p.Leu318=)
|
rs1235573033
|
|
NM_020975.6(RET):c.957C>T (p.Leu319=)
|
rs149926238
|
|
NM_020975.6(RET):c.958C>G (p.Pro320Ala)
|
|
|
NM_020975.6(RET):c.958C>T (p.Pro320Ser)
|
|
|
NM_020975.6(RET):c.959C>G (p.Pro320Arg)
|
rs1837779952
|
|
NM_020975.6(RET):c.959C>T (p.Pro320Leu)
|
rs1837779952
|
|
NM_020975.6(RET):c.95C>T (p.Ser32Leu)
|
rs76764689
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.961G>T (p.Gly321Trp)
|
rs377767388
|
|
NM_020975.6(RET):c.962G>A (p.Gly321Glu)
|
|
|
NM_020975.6(RET):c.963G>A (p.Gly321=)
|
rs1837780326
|
|
NM_020975.6(RET):c.964G>A (p.Asp322Asn)
|
rs1060500755
|
|
NM_020975.6(RET):c.964G>T (p.Asp322Tyr)
|
rs1060500755
|
|
NM_020975.6(RET):c.966C>T (p.Asp322=)
|
rs2132720531
|
|
NM_020975.6(RET):c.968C>A (p.Thr323Asn)
|
|
|
NM_020975.6(RET):c.96G>T (p.Ser32=)
|
rs139821724
|
|
NM_020975.6(RET):c.970T>G (p.Trp324Gly)
|
rs1837780573
|
|
NM_020975.6(RET):c.972G>T (p.Trp324Cys)
|
|
|
NM_020975.6(RET):c.974C>T (p.Ala325Val)
|
|
|
NM_020975.6(RET):c.975C>G (p.Ala325=)
|
rs754806583
|
|
NM_020975.6(RET):c.977A>C (p.Gln326Pro)
|
|
|
NM_020975.6(RET):c.978G>C (p.Gln326His)
|
rs1837781231
|
|
NM_020975.6(RET):c.980A>C (p.Gln327Pro)
|
rs1837781306
|
|
NM_020975.6(RET):c.981G>C (p.Gln327His)
|
rs876658331
|
|
NM_020975.6(RET):c.984C>T (p.Thr328=)
|
rs1453202992
|
|
NM_020975.6(RET):c.988C>T (p.Arg330Trp)
|
rs1172318035
|
|
NM_020975.6(RET):c.989G>A (p.Arg330Gln)
|
rs80236571
|
|
NM_020975.6(RET):c.990G>C (p.Arg330=)
|
rs1362958958
|
|
NM_020975.6(RET):c.991G>T (p.Val331Leu)
|
rs1420717222
|
|
NM_020975.6(RET):c.993G>A (p.Val331=)
|
|
|
NM_020975.6(RET):c.996A>G (p.Glu332=)
|
rs2132721019
|
|
NM_020975.6(RET):c.997C>T (p.His333Tyr)
|
rs1554818012
|
|
NM_020975.6(RET):c.999C>G (p.His333Gln)
|
rs1564492193
|
|
NM_020975.6(RET):c.99G>A (p.Arg33=)
|
|
|
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val)
|
rs151055286
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1112_1115del (p.Ile371fs)
|
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
|
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
NM_022124.6(CDH23):c.145+1G>T
|
rs1850169561
|
|
NM_022124.6(CDH23):c.1450-2A>G
|
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
NM_022124.6(CDH23):c.1579C>T (p.Gln527Ter)
|
|
|
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)
|
rs779974496
|
|
NM_022124.6(CDH23):c.1744_1745dup (p.Leu583fs)
|
|
|
NM_022124.6(CDH23):c.1859-1G>T
|
rs1274105133
|
|
NM_022124.6(CDH23):c.1859-2A>G
|
|
|
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
|
|
|
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
|
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.1987-1G>T
|
|
|
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
|
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
NM_022124.6(CDH23):c.2289+1G>C
|
|
|
NM_022124.6(CDH23):c.2295del (p.Asn765fs)
|
|
|
NM_022124.6(CDH23):c.2323del (p.His775fs)
|
|
|
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)
|
rs1589344004
|
|
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
|
|
|
NM_022124.6(CDH23):c.2397+1G>A
|
|
|
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
|
|
|
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
|
|
|
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
|
|
|
NM_022124.6(CDH23):c.2587+1G>A
|
|
|
NM_022124.6(CDH23):c.2587+1G>C
|
|
|
NM_022124.6(CDH23):c.2587+1G>T
|
|
|
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
|
|
|
NM_022124.6(CDH23):c.2733+1G>C
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2752G>A (p.Asp918Asn)
|
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.288+2T>C
|
|
|
NM_022124.6(CDH23):c.289-1G>C
|
|
|
NM_022124.6(CDH23):c.2922del (p.Lys975fs)
|
rs1338446830
|
|
NM_022124.6(CDH23):c.2953+1G>A
|
|
|
NM_022124.6(CDH23):c.2954-2A>G
|
|
|
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)
|
rs866435331
|
|
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
|
|
|
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
|
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.337-2A>G
|
|
|
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
|
|
|
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
|
|
|
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)
|
rs397517323
|
|
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
|
|
|
NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter)
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
|
|
|
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
|
|
|
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
|
|
|
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)
|
rs2132820264
|
|
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)
|
rs397517327
|
|
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
|
|
|
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
|
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.3820del (p.Glu1274fs)
|
|
|
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
|
|
|
NM_022124.6(CDH23):c.39G>A (p.Trp13Ter)
|
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4101_4104+3del
|
|
|
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
|
|
|
NM_022124.6(CDH23):c.4105-1G>A
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
NM_022124.6(CDH23):c.4207-2A>G
|
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
NM_022124.6(CDH23):c.4210-1G>A
|
rs1166948274
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
|
|
|
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
|
|
|
NM_022124.6(CDH23):c.4360del
|
|
|
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
|
|
|
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
|
|
|
NM_022124.6(CDH23):c.4488+2T>A
|
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser)
|
rs775013186
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
|
|
|
NM_022124.6(CDH23):c.489del (p.Gly165fs)
|
|
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)
|
rs758382198
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
NM_022124.6(CDH23):c.522del (p.Ser175fs)
|
|
|
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
|
|
|
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
|
|
|
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)
|
rs397517337
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
|
|
|
NM_022124.6(CDH23):c.5502+2T>G
|
|
|
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
|
|
|
NM_022124.6(CDH23):c.562dup (p.Thr188fs)
|
rs1857435780
|
|
NM_022124.6(CDH23):c.5667del (p.Asn1889fs)
|
|
|
NM_022124.6(CDH23):c.5712+1G>A
|
rs397517341
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5820+2T>C
|
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022124.6(CDH23):c.5907G>A (p.Met1969Ile)
|
|
|
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
|
|
|
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
|
|
|
NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)
|
|
|
NM_022124.6(CDH23):c.5986G>A (p.Ala1996Thr)
|
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
NM_022124.6(CDH23):c.6050-2A>G
|
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
NM_022124.6(CDH23):c.6254-12_6258del
|
|
|
NM_022124.6(CDH23):c.6254-2A>C
|
|
|
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter)
|
rs1397549896
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
|
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
|
|
|
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
|
|
|
NM_022124.6(CDH23):c.6517G>T (p.Glu2173Ter)
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
|
|
|
NM_022124.6(CDH23):c.67+1G>A
|
|
|
NM_022124.6(CDH23):c.6712+1G>A
|
rs1554874900
|
|
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
|
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
|
|
|
NM_022124.6(CDH23):c.6987del (p.Leu2330fs)
|
|
|
NM_022124.6(CDH23):c.7003del (p.Leu2335fs)
|
rs1379171478
|
|
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
|
|
|
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
|
|
|
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
|
|
|
NM_022124.6(CDH23):c.7054+1G>A
|
rs1057524265
|
|
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
|
rs2132968121
|
|
NM_022124.6(CDH23):c.7224+1G>T
|
|
|
NM_022124.6(CDH23):c.7225del
|
|
|
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
|
|
|
NM_022124.6(CDH23):c.739G>T (p.Glu247Ter)
|
|
|
NM_022124.6(CDH23):c.7483-1G>A
|
|
|
NM_022124.6(CDH23):c.753+1G>A
|
rs1857755312
|
|
NM_022124.6(CDH23):c.754-2A>G
|
rs2132400338
|
|
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
|
|
|
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
|
|
|
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
|
|
|
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
|
|
|
NM_022124.6(CDH23):c.7661-1G>C
|
|
|
NM_022124.6(CDH23):c.7730_7734del (p.Phe2577fs)
|
|
|
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)
|
rs373294595
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.7872+1G>C
|
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
|
rs1221464948
|
|
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
|
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs)
|
rs2132984089
|
|
NM_022124.6(CDH23):c.8064+1G>T
|
rs1474524543
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8160_8161del (p.Leu2721fs)
|
|
|
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
|
|
|
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
|
rs1841758961
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
|
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
NM_022124.6(CDH23):c.8309-1G>A
|
|
|
NM_022124.6(CDH23):c.833-1G>A
|
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
|
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
|
|
|
NM_022124.6(CDH23):c.856del (p.Leu286fs)
|
rs2132514996
|
|
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
|
|
|
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)
|
rs767343063
|
|
NM_022124.6(CDH23):c.8722+1G>A
|
|
|
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
|
|
|
NM_022124.6(CDH23):c.8877del (p.Ile2959fs)
|
|
|
NM_022124.6(CDH23):c.9077+2T>C
|
|
|
NM_022124.6(CDH23):c.9078-2A>C
|
|
|
NM_022124.6(CDH23):c.9078-2A>G
|
|
|
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
|
|
|
NM_022124.6(CDH23):c.9127del (p.Arg3043fs)
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9176del (p.Pro3059fs)
|
rs1554877806
|
|
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
|
|
|
NM_022124.6(CDH23):c.9198+2T>A
|
rs1841921374
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
|
|
|
NM_022124.6(CDH23):c.9254del (p.Leu3085fs)
|
rs773926246
|
|
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
|
|
|
NM_022124.6(CDH23):c.9280_9286del
|
rs2133002929
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022124.6(CDH23):c.9319+1G>T
|
|
|
NM_022124.6(CDH23):c.9375del (p.Phe3125fs)
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp)
|
rs1052484950
|
|
NM_022124.6(CDH23):c.945+1G>T
|
rs727502919
|
|
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
|
|
|
NM_022124.6(CDH23):c.9481G>C (p.Asp3161His)
|
|
|
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
|
|
|
NM_022124.6(CDH23):c.9511-2A>C
|
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
NM_022124.6(CDH23):c.9634-1G>A
|
|
|
NM_022124.6(CDH23):c.9658del (p.Glu3220fs)
|
rs922700209
|
|
NM_022124.6(CDH23):c.9691C>T (p.Gln3231Ter)
|
rs1332428012
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_022124.6(CDH23):c.9738+1G>T
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_022124.6(CDH23):c.995C>A (p.Thr332Lys)
|
rs376301184
|
|
NM_024529.5(CDC73):c.*1056A>C
|
rs548106852
|
|
NM_024529.5(CDC73):c.*1075A>G
|
rs886045719
|
|
NM_024529.5(CDC73):c.*1144del
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1144dup
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1296C>G
|
rs1269411417
|
|
NM_024529.5(CDC73):c.*1303A>G
|
rs886045723
|
|
NM_024529.5(CDC73):c.*1442C>T
|
rs1678053550
|
|
NM_024529.5(CDC73):c.*1821G>T
|
rs1678060916
|
|
NM_024529.5(CDC73):c.*1858C>G
|
rs886045724
|
|
NM_024529.5(CDC73):c.*1956T>C
|
rs886045725
|
|
NM_024529.5(CDC73):c.*2043A>T
|
rs886045727
|
|
NM_024529.5(CDC73):c.*2131A>T
|
rs886045728
|
|
NM_024529.5(CDC73):c.*244T>A
|
rs1678034707
|
|
NM_024529.5(CDC73):c.*2639C>G
|
rs1361287206
|
|
NM_024529.5(CDC73):c.*3086C>T
|
rs886045733
|
|
NM_024529.5(CDC73):c.*3257A>G
|
rs886045734
|
|
NM_024529.5(CDC73):c.*3409_*3410del
|
rs886045735
|
|
NM_024529.5(CDC73):c.*3542A>G
|
rs886045736
|
|
NM_024529.5(CDC73):c.*3641G>A
|
rs565579791
|
|
NM_024529.5(CDC73):c.*3695C>G
|
rs1678098304
|
|
NM_024529.5(CDC73):c.*3786T>A
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3786T>C
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3808TTG[1]
|
rs143131672
|
|
NM_024529.5(CDC73):c.*3887G>T
|
rs1678101144
|
|
NM_024529.5(CDC73):c.*937G>A
|
rs886045715
|
|
NM_024529.5(CDC73):c.*94A>G
|
rs547969893
|
|
NM_024529.5(CDC73):c.*956T>C
|
rs886045716
|
|
NM_024529.5(CDC73):c.-2A>G
|
rs1572139644
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1000A>G (p.Thr334Ala)
|
|
|
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)
|
rs1677132309
|
|
NM_024529.5(CDC73):c.1003C>A (p.Pro335Thr)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg)
|
rs1476163101
|
|
NM_024529.5(CDC73):c.1004C>T (p.Pro335Leu)
|
|
|
NM_024529.5(CDC73):c.1005T>A (p.Pro335=)
|
rs2103178081
|
|
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser)
|
rs2103178083
|
|
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
|
|
|
NM_024529.5(CDC73):c.100A>C (p.Lys34Gln)
|
|
|
NM_024529.5(CDC73):c.100A>G (p.Lys34Glu)
|
|
|
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)
|
rs2103178097
|
|
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro)
|
rs993696396
|
|
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
|
|
|
NM_024529.5(CDC73):c.1016C>A (p.Pro339Gln)
|
|
|
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg)
|
rs1060500018
|
|
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu)
|
rs1060500018
|
|
NM_024529.5(CDC73):c.1017A>G (p.Pro339=)
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
NM_024529.5(CDC73):c.1020A>G (p.Val340=)
|
|
|
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
|
|
|
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser)
|
rs1572196474
|
|
NM_024529.5(CDC73):c.1023A>G (p.Pro341=)
|
rs2103178122
|
|
NM_024529.5(CDC73):c.1025G>A (p.Arg342Lys)
|
|
|
NM_024529.5(CDC73):c.1026A>G (p.Arg342=)
|
rs770903733
|
|
NM_024529.5(CDC73):c.1027C>A (p.Pro343Thr)
|
|
|
NM_024529.5(CDC73):c.102G>A (p.Lys34=)
|
|
|
NM_024529.5(CDC73):c.102G>C (p.Lys34Asn)
|
|
|
NM_024529.5(CDC73):c.1030+10_1030+11del
|
|
|
NM_024529.5(CDC73):c.1030+12G>A
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+12G>T
|
rs1227935949
|
|
NM_024529.5(CDC73):c.1030+14A>C
|
|
|
NM_024529.5(CDC73):c.1030+14A>T
|
|
|
NM_024529.5(CDC73):c.1030+16T>C
|
|
|
NM_024529.5(CDC73):c.1030+19G>A
|
|
|
NM_024529.5(CDC73):c.1030+19del
|
rs2103178144
|
|
NM_024529.5(CDC73):c.1030+20C>G
|
|
|
NM_024529.5(CDC73):c.1030+2T>C
|
|
|
NM_024529.5(CDC73):c.1030+4G>T
|
|
|
NM_024529.5(CDC73):c.1030+7A>C
|
|
|
NM_024529.5(CDC73):c.1030+8T>G
|
rs1035535558
|
|
NM_024529.5(CDC73):c.1030+9A>G
|
|
|
NM_024529.5(CDC73):c.1030+9_1030+10insC
|
rs2103178136
|
|
NM_024529.5(CDC73):c.1031-10T>A
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-10T>G
|
rs370349805
|
|
NM_024529.5(CDC73):c.1031-11_1031-10del
|
|
|
NM_024529.5(CDC73):c.1031-12del
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-12dup
|
rs751580604
|
|
NM_024529.5(CDC73):c.1031-19T>C
|
|
|
NM_024529.5(CDC73):c.1031-1G>T
|
|
|
NM_024529.5(CDC73):c.1031-7T>C
|
rs781077021
|
|
NM_024529.5(CDC73):c.1032T>C (p.Val344=)
|
rs148612206
|
|
NM_024529.5(CDC73):c.1038A>G (p.Gln346=)
|
|
|
NM_024529.5(CDC73):c.1038A>T (p.Gln346His)
|
rs2102038062
|
|
NM_024529.5(CDC73):c.1039G>T (p.Ala347Ser)
|
rs1553288361
|
|
NM_024529.5(CDC73):c.1040C>T (p.Ala347Val)
|
rs1677289364
|
|
NM_024529.5(CDC73):c.1041A>C (p.Ala347=)
|
|
|
NM_024529.5(CDC73):c.1041A>G (p.Ala347=)
|
rs2102038069
|
|
NM_024529.5(CDC73):c.1043G>T (p.Arg348Ile)
|
|
|
NM_024529.5(CDC73):c.1045C>A (p.Pro349Thr)
|
|
|
NM_024529.5(CDC73):c.1048C>T (p.Pro350Ser)
|
rs773264613
|
|
NM_024529.5(CDC73):c.1049C>T (p.Pro350Leu)
|
rs2102038095
|
|
NM_024529.5(CDC73):c.104A>G (p.Asn35Ser)
|
|
|
NM_024529.5(CDC73):c.1052C>T (p.Pro351Leu)
|
rs1677289653
|
|
NM_024529.5(CDC73):c.1052del (p.Pro351fs)
|
rs1553288362
|
|
NM_024529.5(CDC73):c.1054A>C (p.Asn352His)
|
rs1677289702
|
|
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
|
|
|
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser)
|
rs1677289748
|
|
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
|
|
|
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn)
|
rs1677289784
|
|
NM_024529.5(CDC73):c.1066+11G>A
|
|
|
NM_024529.5(CDC73):c.1066+13A>C
|
|
|
NM_024529.5(CDC73):c.1066+19T>C
|
|
|
NM_024529.5(CDC73):c.1066+3G>A
|
rs2102038126
|
|
NM_024529.5(CDC73):c.1066+4A>G
|
|
|
NM_024529.5(CDC73):c.1066+6G>A
|
|
|
NM_024529.5(CDC73):c.1066+6G>T
|
rs1677289869
|
|
NM_024529.5(CDC73):c.1066+9G>A
|
rs2102038137
|
|
NM_024529.5(CDC73):c.1067-18T>A
|
|
|
NM_024529.5(CDC73):c.1067-19G>A
|
|
|
NM_024529.5(CDC73):c.1067-2_1069del
|
rs2102038469
|
|
NM_024529.5(CDC73):c.1067-3T>A
|
rs1572202351
|
|
NM_024529.5(CDC73):c.1067-8C>G
|
rs780485546
|
|
NM_024529.5(CDC73):c.1067-9T>A
|
rs1253333879
|
|
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val)
|
rs2102038477
|
|
NM_024529.5(CDC73):c.1069T>C (p.Ser357Pro)
|
|
|
NM_024529.5(CDC73):c.1070C>G (p.Ser357Cys)
|
rs2102038479
|
|
NM_024529.5(CDC73):c.1073G>A (p.Arg358Gln)
|
|
|
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala)
|
rs1060500010
|
|
NM_024529.5(CDC73):c.1077A>G (p.Thr359=)
|
rs746991059
|
|
NM_024529.5(CDC73):c.1077A>T (p.Thr359=)
|
rs746991059
|
|
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser)
|
rs770734388
|
|
NM_024529.5(CDC73):c.1079C>G (p.Pro360Arg)
|
|
|
NM_024529.5(CDC73):c.1079C>T (p.Pro360Leu)
|
rs1677295002
|
|
NM_024529.5(CDC73):c.1080C>T (p.Pro360=)
|
rs1211967086
|
|
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val)
|
rs2102038517
|
|
NM_024529.5(CDC73):c.1092T>A (p.Ile364=)
|
|
|
NM_024529.5(CDC73):c.1095T>A (p.Pro365=)
|
|
|
NM_024529.5(CDC73):c.1096G>A (p.Ala366Thr)
|
rs2102038531
|
|
NM_024529.5(CDC73):c.1098A>G (p.Ala366=)
|
rs775127570
|
|
NM_024529.5(CDC73):c.10G>C (p.Val4Leu)
|
rs1675463101
|
|
NM_024529.5(CDC73):c.10G>T (p.Val4Leu)
|
|
|
NM_024529.5(CDC73):c.10del (p.Val4fs)
|
rs2103111548
|
|
NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)
|
|
|
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
|
|
|
NM_024529.5(CDC73):c.1102A>T (p.Thr368Ser)
|
rs1358233620
|
|
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)
|
rs2102038553
|
|
NM_024529.5(CDC73):c.1104C>T (p.Thr368=)
|
rs2102038555
|
|
NM_024529.5(CDC73):c.110A>G (p.Lys37Arg)
|
rs890428520
|
|
NM_024529.5(CDC73):c.1112T>C (p.Leu371Ser)
|
rs2102038560
|
|
NM_024529.5(CDC73):c.1114A>C (p.Ile372Leu)
|
|
|
NM_024529.5(CDC73):c.1119C>T (p.Thr373=)
|
rs1015188625
|
|
NM_024529.5(CDC73):c.111G>C (p.Lys37Asn)
|
rs1355286253
|
|
NM_024529.5(CDC73):c.1120A>G (p.Met374Val)
|
rs2102038567
|
|
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr)
|
rs1677295843
|
|
NM_024529.5(CDC73):c.1129G>C (p.Ala377Pro)
|
|
|
NM_024529.5(CDC73):c.1130C>G (p.Ala377Gly)
|
|
|
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
|
|
|
NM_024529.5(CDC73):c.1131A>T (p.Ala377=)
|
|
|
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu)
|
rs1677295923
|
|
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
|
|
|
NM_024529.5(CDC73):c.113C>A (p.Thr38Asn)
|
|
|
NM_024529.5(CDC73):c.1143A>G (p.Leu381=)
|
rs1384414870
|
|
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
|
|
|
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
|
|
|
NM_024529.5(CDC73):c.114C>T (p.Thr38=)
|
|
|
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val)
|
rs377215814
|
|
NM_024529.5(CDC73):c.1154+13T>C
|
|
|
NM_024529.5(CDC73):c.1154+14T>C
|
rs2102038628
|
|
NM_024529.5(CDC73):c.1154+19T>G
|
rs2102038640
|
|
NM_024529.5(CDC73):c.1154+20A>G
|
|
|
NM_024529.5(CDC73):c.1154+7A>C
|
|
|
NM_024529.5(CDC73):c.1154+7A>G
|
|
|
NM_024529.5(CDC73):c.1154+8A>G
|
rs2102038618
|
|
NM_024529.5(CDC73):c.1154+9T>G
|
|
|
NM_024529.5(CDC73):c.1155-10T>G
|
|
|
NM_024529.5(CDC73):c.1155-12G>A
|
rs2102058222
|
|
NM_024529.5(CDC73):c.1155-12G>C
|
|
|
NM_024529.5(CDC73):c.1155-14C>G
|
|
|
NM_024529.5(CDC73):c.1155-14C>T
|
rs377158112
|
|
NM_024529.5(CDC73):c.1155-14_1155-13del
|
|
|
NM_024529.5(CDC73):c.1155-17T>G
|
|
|
NM_024529.5(CDC73):c.1155-19C>T
|
|
|
NM_024529.5(CDC73):c.1155-20T>A
|
|
|
NM_024529.5(CDC73):c.1155-3A>G
|
rs1060500014
|
|
NM_024529.5(CDC73):c.1155-5C>T
|
|
|
NM_024529.5(CDC73):c.1155-6del
|
|
|
NM_024529.5(CDC73):c.1155-6dup
|
|
|
NM_024529.5(CDC73):c.1155-8T>C
|
rs2102058227
|
|
NM_024529.5(CDC73):c.1155A>G (p.Lys385=)
|
rs1572215260
|
|
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
|
|
|
NM_024529.5(CDC73):c.1161C>T (p.Val387=)
|
rs1572215263
|
|
NM_024529.5(CDC73):c.1162C>G (p.Pro388Ala)
|
rs1470371131
|
|
NM_024529.5(CDC73):c.1162C>T (p.Pro388Ser)
|
|
|
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu)
|
rs2102058240
|
|
NM_024529.5(CDC73):c.1164A>G (p.Pro388=)
|
rs1572215267
|
|
NM_024529.5(CDC73):c.1165T>A (p.Ser389Thr)
|
rs1677687458
|
|
NM_024529.5(CDC73):c.1168G>C (p.Asp390His)
|
rs1677687568
|
|
NM_024529.5(CDC73):c.1171G>A (p.Glu391Lys)
|
rs2102058252
|
|
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
|
|
|
NM_024529.5(CDC73):c.1176G>A (p.Lys392=)
|
rs767993995
|
|
NM_024529.5(CDC73):c.1176G>C (p.Lys392Asn)
|
rs767993995
|
|
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del)
|
rs1677687636
|
|
NM_024529.5(CDC73):c.1182A>G (p.Lys394=)
|
rs2102058268
|
|
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu)
|
rs374856513
|
|
NM_024529.5(CDC73):c.1186G>A (p.Gly396Ser)
|
rs866793539
|
|
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
|
|
|
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
|
|
|
NM_024529.5(CDC73):c.1188T>C (p.Gly396=)
|
rs1205766785
|
|
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
|
|
|
NM_024529.5(CDC73):c.1193A>G (p.Gln398Arg)
|
rs878855088
|
|
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu)
|
rs878855088
|
|
NM_024529.5(CDC73):c.1195C>G (p.Arg399Gly)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
|
|
|
NM_024529.5(CDC73):c.119A>G (p.Tyr40Cys)
|
rs1019931450
|
|
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
|
|
|
NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)
|
|
|
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile)
|
rs1677688538
|
|
NM_024529.5(CDC73):c.1212A>G (p.Leu404=)
|
rs552978336
|
|
NM_024529.5(CDC73):c.121G>C (p.Val41Leu)
|
|
|
NM_024529.5(CDC73):c.121GTT[1] (p.Val42del)
|
rs2103111771
|
|
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys)
|
rs1572215316
|
|
NM_024529.5(CDC73):c.1222A>G (p.Arg408Gly)
|
rs1677688718
|
|
NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)
|
|
|
NM_024529.5(CDC73):c.1226A>G (p.Lys409Arg)
|
|
|
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro)
|
rs1242516197
|
|
NM_024529.5(CDC73):c.1233G>A (p.Gln411=)
|
|
|
NM_024529.5(CDC73):c.1233G>C (p.Gln411His)
|
|
|
NM_024529.5(CDC73):c.1234A>C (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu)
|
rs752959843
|
|
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
|
|
|
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu)
|
rs1553291031
|
|
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
|
|
|
NM_024529.5(CDC73):c.1239A>G (p.Gln413=)
|
rs1677689666
|
|
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser)
|
rs1297552782
|
|
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
|
|
|
NM_024529.5(CDC73):c.1246G>C (p.Gly416Arg)
|
rs2102058377
|
|
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala)
|
rs1553291033
|
|
NM_024529.5(CDC73):c.1247del (p.Gly416fs)
|
rs1572215344
|
|
NM_024529.5(CDC73):c.1248C>G (p.Gly416=)
|
|
|
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.1251T>C (p.Thr417=)
|
|
|
NM_024529.5(CDC73):c.1252G>A (p.Ala418Thr)
|
|
|
NM_024529.5(CDC73):c.1257T>C (p.Ile419=)
|
|
|
NM_024529.5(CDC73):c.1264A>G (p.Thr422Ala)
|
|
|
NM_024529.5(CDC73):c.1266A>G (p.Thr422=)
|
rs1553291034
|
|
NM_024529.5(CDC73):c.1269A>T (p.Val423=)
|
rs745826358
|
|
NM_024529.5(CDC73):c.126T>C (p.Val42=)
|
rs1675466558
|
|
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys)
|
rs1677690233
|
|
NM_024529.5(CDC73):c.1275T>C (p.Tyr425=)
|
|
|
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly)
|
rs2102058411
|
|
NM_024529.5(CDC73):c.1278A>G (p.Arg426=)
|
rs1677690277
|
|
NM_024529.5(CDC73):c.1279G>A (p.Val427Ile)
|
rs2102058420
|
|
NM_024529.5(CDC73):c.127dup (p.Trp43fs)
|
|
|
NM_024529.5(CDC73):c.1282G>A (p.Val428Ile)
|
|
|
NM_024529.5(CDC73):c.1283T>C (p.Val428Ala)
|
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
NM_024529.5(CDC73):c.1290G>A (p.Gln430=)
|
rs1336120271
|
|
NM_024529.5(CDC73):c.1293C>A (p.Pro431=)
|
|
|
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe)
|
rs2102058450
|
|
NM_024529.5(CDC73):c.1296T>G (p.Leu432=)
|
rs2102058457
|
|
NM_024529.5(CDC73):c.129G>C (p.Trp43Cys)
|
|
|
NM_024529.5(CDC73):c.129G>T (p.Trp43Cys)
|
|
|
NM_024529.5(CDC73):c.12G>C (p.Val4=)
|
rs2103111556
|
|
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)
|
rs1558276082
|
|
NM_024529.5(CDC73):c.1300C>T (p.Leu434Phe)
|
|
|
NM_024529.5(CDC73):c.1302T>C (p.Leu434=)
|
|
|
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
|
|
|
NM_024529.5(CDC73):c.1306C>T (p.Pro436Ser)
|
|
|
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg)
|
rs1344996460
|
|
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu)
|
rs1344996460
|
|
NM_024529.5(CDC73):c.1307dup (p.Gln437fs)
|
|
|
NM_024529.5(CDC73):c.1308T>C (p.Pro436=)
|
|
|
NM_024529.5(CDC73):c.1308T>G (p.Pro436=)
|
rs991835494
|
|
NM_024529.5(CDC73):c.131+11_131+12delinsAC
|
|
|
NM_024529.5(CDC73):c.131+13T>C
|
|
|
NM_024529.5(CDC73):c.131+15G>T
|
|
|
NM_024529.5(CDC73):c.131+16C>A
|
|
|
NM_024529.5(CDC73):c.131+16C>T
|
|
|
NM_024529.5(CDC73):c.131+17T>A
|
|
|
NM_024529.5(CDC73):c.131+17dup
|
rs2103111814
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1G>T
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1del
|
|
|
NM_024529.5(CDC73):c.131+3A>G
|
|
|
NM_024529.5(CDC73):c.131+7C>T
|
rs1572139906
|
|
NM_024529.5(CDC73):c.131+8C>A
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>G
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+8C>T
|
rs1675466806
|
|
NM_024529.5(CDC73):c.131+9G>C
|
|
|
NM_024529.5(CDC73):c.131+9G>T
|
rs780780877
|
|
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu)
|
rs2102058489
|
|
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
|
|
|
NM_024529.5(CDC73):c.1314C>T (p.Asp438=)
|
|
|
NM_024529.5(CDC73):c.1316+10T>C
|
|
|
NM_024529.5(CDC73):c.1316+11C>G
|
|
|
NM_024529.5(CDC73):c.1316+11C>T
|
rs917463973
|
|
NM_024529.5(CDC73):c.1316+12T>G
|
|
|
NM_024529.5(CDC73):c.1316+13C>A
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+13C>G
|
rs2102058509
|
|
NM_024529.5(CDC73):c.1316+13C>T
|
|
|
NM_024529.5(CDC73):c.1316+14T>C
|
|
|
NM_024529.5(CDC73):c.1316+14TA[6]
|
rs747940099
|
|
NM_024529.5(CDC73):c.1316+14del
|
|
|
NM_024529.5(CDC73):c.1316+15A>G
|
rs372909512
|
|
NM_024529.5(CDC73):c.1316+17A>G
|
|
|
NM_024529.5(CDC73):c.1316+18T>A
|
|
|
NM_024529.5(CDC73):c.1316+18del
|
|
|
NM_024529.5(CDC73):c.1316+19A>G
|
|
|
NM_024529.5(CDC73):c.1316+1del
|
rs2102058495
|
|
NM_024529.5(CDC73):c.1316+20_1316+22del
|
rs2102058536
|
|
NM_024529.5(CDC73):c.1316+4A>G
|
rs2102058500
|
|
NM_024529.5(CDC73):c.1316+6A>T
|
rs2102058502
|
|
NM_024529.5(CDC73):c.1316+8A>G
|
rs1572215403
|
|
NM_024529.5(CDC73):c.1317-10C>A
|
|
|
NM_024529.5(CDC73):c.1317-10C>G
|
rs2102061741
|
|
NM_024529.5(CDC73):c.1317-14T>C
|
|
|
NM_024529.5(CDC73):c.1317-16A>C
|
|
|
NM_024529.5(CDC73):c.1317-16A>G
|
|
|
NM_024529.5(CDC73):c.1317-17C>T
|
|
|
NM_024529.5(CDC73):c.1317-20A>G
|
rs767329060
|
|
NM_024529.5(CDC73):c.1317-3T>C
|
|
|
NM_024529.5(CDC73):c.1317-7C>T
|
rs1677755980
|
|
NM_024529.5(CDC73):c.1317-8A>G
|
|
|
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
|
|
|
NM_024529.5(CDC73):c.132-12T>G
|
|
|
NM_024529.5(CDC73):c.132-12del
|
|
|
NM_024529.5(CDC73):c.132-13T>A
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-13T>G
|
rs935384550
|
|
NM_024529.5(CDC73):c.132-14C>G
|
|
|
NM_024529.5(CDC73):c.132-14_132-13insAATT
|
rs530110098
|
|
NM_024529.5(CDC73):c.132-15C>T
|
rs2103113865
|
|
NM_024529.5(CDC73):c.132-16G>A
|
|
|
NM_024529.5(CDC73):c.132-16G>C
|
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
NM_024529.5(CDC73):c.132-18T>C
|
rs1572142481
|
|
NM_024529.5(CDC73):c.132-19C>G
|
|
|
NM_024529.5(CDC73):c.132-20del
|
rs2103113858
|
|
NM_024529.5(CDC73):c.132-2A>C
|
|
|
NM_024529.5(CDC73):c.132-2A>G
|
rs1057519419
|
|
NM_024529.5(CDC73):c.132-7A>G
|
|
|
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
|
|
|
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
|
|
|
NM_024529.5(CDC73):c.1322G>A (p.Arg441His)
|
rs778432682
|
|
NM_024529.5(CDC73):c.1323C>T (p.Arg441=)
|
rs747780211
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
|
|
|
NM_024529.5(CDC73):c.1329A>G (p.Val443=)
|
|
|
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
|
|
|
NM_024529.5(CDC73):c.1332C>G (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1332C>T (p.Ala444=)
|
rs1060503808
|
|
NM_024529.5(CDC73):c.1334T>G (p.Val445Gly)
|
|
|
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024529.5(CDC73):c.1338T>C (p.Phe446=)
|
rs2102061810
|
|
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
|
|
|
NM_024529.5(CDC73):c.1339G>T (p.Val447Leu)
|
|
|
NM_024529.5(CDC73):c.1341G>A (p.Val447=)
|
rs771409544
|
|
NM_024529.5(CDC73):c.1341G>T (p.Val447=)
|
|
|
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
|
|
|
NM_024529.5(CDC73):c.1350T>C (p.Pro450=)
|
rs2102061831
|
|
NM_024529.5(CDC73):c.1353A>G (p.Ala451=)
|
rs1677756910
|
|
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg)
|
rs1444457760
|
|
NM_024529.5(CDC73):c.1368T>C (p.Gly456=)
|
rs1553291416
|
|
NM_024529.5(CDC73):c.136G>A (p.Gly46Arg)
|
|
|
NM_024529.5(CDC73):c.1371G>C (p.Trp457Cys)
|
|
|
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
|
|
|
NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)
|
|
|
NM_024529.5(CDC73):c.1381T>G (p.Leu461Val)
|
|
|
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)
|
rs1199579887
|
|
NM_024529.5(CDC73):c.1385C>G (p.Pro462Arg)
|
rs1572217735
|
|
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
|
|
|
NM_024529.5(CDC73):c.1387G>T (p.Asp463Tyr)
|
|
|
NM_024529.5(CDC73):c.1389T>C (p.Asp463=)
|
rs2102061880
|
|
NM_024529.5(CDC73):c.138A>G (p.Gly46=)
|
|
|
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
|
|
|
NM_024529.5(CDC73):c.1397del (p.Pro466fs)
|
rs2102061886
|
|
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
|
|
|
NM_024529.5(CDC73):c.13C>G (p.Leu5Val)
|
|
|
NM_024529.5(CDC73):c.13C>T (p.Leu5Phe)
|
rs1296841626
|
|
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)
|
rs587776561
|
|
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr)
|
rs1677757493
|
|
NM_024529.5(CDC73):c.1405dup (p.Ile469fs)
|
rs1677757559
|
|
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr)
|
rs1677757603
|
|
NM_024529.5(CDC73):c.1410T>C (p.Phe470=)
|
rs2102061903
|
|
NM_024529.5(CDC73):c.1411G>C (p.Ala471Pro)
|
|
|
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu)
|
rs1677757689
|
|
NM_024529.5(CDC73):c.1417+14T>C
|
|
|
NM_024529.5(CDC73):c.1417+14del
|
|
|
NM_024529.5(CDC73):c.1417+15G>A
|
|
|
NM_024529.5(CDC73):c.1417+20T>A
|
|
|
NM_024529.5(CDC73):c.1417+20_1417+23del
|
|
|
NM_024529.5(CDC73):c.1417+5G>T
|
rs2102061922
|
|
NM_024529.5(CDC73):c.1417+8T>C
|
|
|
NM_024529.5(CDC73):c.1417dup (p.Ile473fs)
|
rs2102061912
|
|
NM_024529.5(CDC73):c.1418-10C>A
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10C>T
|
rs768713729
|
|
NM_024529.5(CDC73):c.1418-10CT[2]
|
rs1572226215
|
|
NM_024529.5(CDC73):c.1418-11C>G
|
rs1328380226
|
|
NM_024529.5(CDC73):c.1418-11C>T
|
|
|
NM_024529.5(CDC73):c.1418-12C>T
|
rs2102073203
|
|
NM_024529.5(CDC73):c.1418-14C>T
|
|
|
NM_024529.5(CDC73):c.1418-15C>T
|
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-17C>T
|
rs11583414
|
|
NM_024529.5(CDC73):c.1418-19C>G
|
|
|
NM_024529.5(CDC73):c.1418-302G>A
|
|
|
NM_024529.5(CDC73):c.1418-3T>C
|
rs1678015232
|
|
NM_024529.5(CDC73):c.1418-6C>G
|
rs1678015138
|
|
NM_024529.5(CDC73):c.1418-7T>C
|
rs2102073224
|
|
NM_024529.5(CDC73):c.1418-8C>T
|
rs2102073220
|
|
NM_024529.5(CDC73):c.1422A>G (p.Lys474=)
|
|
|
NM_024529.5(CDC73):c.1425C>T (p.Ala475=)
|
rs1572226219
|
|
NM_024529.5(CDC73):c.1431T>C (p.His477=)
|
rs2102073261
|
|
NM_024529.5(CDC73):c.1432C>G (p.Leu478Val)
|
rs1060500025
|
|
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp)
|
rs1553292962
|
|
NM_024529.5(CDC73):c.1440T>C (p.Tyr480=)
|
|
|
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr)
|
rs1678015613
|
|
NM_024529.5(CDC73):c.1443T>C (p.Asp481=)
|
|
|
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys)
|
rs2102073303
|
|
NM_024529.5(CDC73):c.1446A>C (p.Glu482Asp)
|
|
|
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp)
|
rs2103113897
|
|
NM_024529.5(CDC73):c.144A>G (p.Glu48=)
|
rs2103113897
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024529.5(CDC73):c.1452T>A (p.Arg484=)
|
|
|
NM_024529.5(CDC73):c.1452T>C (p.Arg484=)
|
|
|
NM_024529.5(CDC73):c.1453C>T (p.Leu485=)
|
rs761968225
|
|
NM_024529.5(CDC73):c.1455G>T (p.Leu485=)
|
|
|
NM_024529.5(CDC73):c.1459C>T (p.Pro487Ser)
|
|
|
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys)
|
rs200806263
|
|
NM_024529.5(CDC73):c.1460C>T (p.Pro487Leu)
|
rs1678015855
|
|
NM_024529.5(CDC73):c.1462A>C (p.Asn488His)
|
|
|
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
|
|
|
NM_024529.5(CDC73):c.1465G>C (p.Val489Leu)
|
rs2102073378
|
|
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg)
|
rs2102073385
|
|
NM_024529.5(CDC73):c.1470G>C (p.Gln490His)
|
|
|
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu)
|
rs2102073386
|
|
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile)
|
rs2102073388
|
|
NM_024529.5(CDC73):c.1473A>G (p.Lys491=)
|
|
|
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys)
|
rs2102073392
|
|
NM_024529.5(CDC73):c.1479T>C (p.Asp493=)
|
|
|
NM_024529.5(CDC73):c.147C>T (p.Gly49=)
|
rs1310600802
|
|
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile)
|
rs1199025166
|
|
NM_024529.5(CDC73):c.1482A>G (p.Val494=)
|
rs1286819904
|
|
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala)
|
rs1558326136
|
|
NM_024529.5(CDC73):c.1485A>G (p.Thr495=)
|
rs2102073429
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
NM_024529.5(CDC73):c.1488A>G (p.Val496=)
|
rs2102073439
|
|
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu)
|
rs2103113904
|
|
NM_024529.5(CDC73):c.1491A>G (p.Leu497=)
|
rs1448322761
|
|
NM_024529.5(CDC73):c.149A>G (p.Gln50Arg)
|
rs1276311364
|
|
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His)
|
rs1553292970
|
|
NM_024529.5(CDC73):c.1503T>C (p.Tyr501=)
|
|
|
NM_024529.5(CDC73):c.1506C>T (p.His502=)
|
rs2102073494
|
|
NM_024529.5(CDC73):c.1509A>G (p.Lys503=)
|
rs2102073498
|
|
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys)
|
rs1292596060
|
|
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr)
|
rs1558326147
|
|
NM_024529.5(CDC73):c.1519G>T (p.Asp507Tyr)
|
rs1678017026
|
|
NM_024529.5(CDC73):c.151C>T (p.Pro51Ser)
|
rs540541696
|
|
NM_024529.5(CDC73):c.1520A>T (p.Asp507Val)
|
rs2102073531
|
|
NM_024529.5(CDC73):c.1521T>C (p.Asp507=)
|
rs1476554322
|
|
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024529.5(CDC73):c.1527A>G (p.Pro509=)
|
rs765271361
|
|
NM_024529.5(CDC73):c.1528G>A (p.Val510Met)
|
|
|
NM_024529.5(CDC73):c.1528G>C (p.Val510Leu)
|
|
|
NM_024529.5(CDC73):c.1529T>C (p.Val510Ala)
|
rs2102073560
|
|
NM_024529.5(CDC73):c.1533C>A (p.Phe511Leu)
|
|
|
NM_024529.5(CDC73):c.1536A>G (p.Leu512=)
|
|
|
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)
|
rs1060500011
|
|
NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)
|
|
|
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile)
|
rs1678017409
|
|
NM_024529.5(CDC73):c.1553T>C (p.Leu518Ser)
|
|
|
NM_024529.5(CDC73):c.1558A>C (p.Arg520=)
|
|
|
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly)
|
rs1553292974
|
|
NM_024529.5(CDC73):c.1559+10del
|
rs767962310
|
|
NM_024529.5(CDC73):c.1559+13C>G
|
|
|
NM_024529.5(CDC73):c.1559+16A>G
|
rs2102073684
|
|
NM_024529.5(CDC73):c.1559+16A>T
|
|
|
NM_024529.5(CDC73):c.1559+18A>C
|
rs988361827
|
|
NM_024529.5(CDC73):c.1559+4A>T
|
rs1001095861
|
|
NM_024529.5(CDC73):c.1559+8C>T
|
rs751279026
|
|
NM_024529.5(CDC73):c.1560-16A>G
|
rs935733228
|
|
NM_024529.5(CDC73):c.1560-18C>A
|
|
|
NM_024529.5(CDC73):c.1560-18C>T
|
rs925676253
|
|
NM_024529.5(CDC73):c.1560-20T>C
|
|
|
NM_024529.5(CDC73):c.1560-4del
|
|
|
NM_024529.5(CDC73):c.1560-4dup
|
rs761016442
|
|
NM_024529.5(CDC73):c.1560-9T>A
|
rs1572226919
|
|
NM_024529.5(CDC73):c.1560G>A (p.Arg520=)
|
rs1487870537
|
|
NM_024529.5(CDC73):c.1564A>T (p.Met522Leu)
|
rs751152405
|
|
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu)
|
rs1558326418
|
|
NM_024529.5(CDC73):c.156A>G (p.Arg52=)
|
rs886045712
|
|
NM_024529.5(CDC73):c.1576A>G (p.Lys526Glu)
|
|
|
NM_024529.5(CDC73):c.1578A>G (p.Lys526=)
|
rs1678030993
|
|
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)
|
rs1675541893
|
|
NM_024529.5(CDC73):c.1581G>T (p.Ser527=)
|
rs141013612
|
|
NM_024529.5(CDC73):c.1582C>T (p.His528Tyr)
|
|
|
NM_024529.5(CDC73):c.1585T>C (p.Leu529=)
|
|
|
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer)
|
rs1368184407
|
|
NM_024529.5(CDC73):c.1587G>C (p.Leu529Phe)
|
|
|
NM_024529.5(CDC73):c.158A>G (p.Glu53Gly)
|
rs1572142551
|
|
NM_024529.5(CDC73):c.1590A>G (p.Arg530=)
|
rs1456447381
|
|
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
|
|
|
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
|
|
|
NM_024529.5(CDC73):c.159G>A (p.Glu53=)
|
rs2103113918
|
|
NM_024529.5(CDC73):c.15T>G (p.Leu5=)
|
rs2103111572
|
|
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
NM_024529.5(CDC73):c.162C>T (p.Tyr54=)
|
rs121434265
|
|
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys)
|
rs2103113933
|
|
NM_024529.5(CDC73):c.165C>T (p.Tyr55=)
|
rs2103113938
|
|
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
|
|
|
NM_024529.5(CDC73):c.168A>G (p.Thr56=)
|
|
|
NM_024529.5(CDC73):c.168A>T (p.Thr56=)
|
rs2103113949
|
|
NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)
|
|
|
NM_024529.5(CDC73):c.170T>A (p.Leu57Ter)
|
|
|
NM_024529.5(CDC73):c.174T>C (p.Asp58=)
|
rs1060503806
|
|
NM_024529.5(CDC73):c.177C>T (p.Ser59=)
|
rs1675542356
|
|
NM_024529.5(CDC73):c.178A>G (p.Ile60Val)
|
rs1572142567
|
|
NM_024529.5(CDC73):c.178A>T (p.Ile60Phe)
|
|
|
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
|
|
|
NM_024529.5(CDC73):c.17del (p.Ser6fs)
|
|
|
NM_024529.5(CDC73):c.185T>G (p.Phe62Cys)
|
|
|
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
|
|
|
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)
|
rs1060500015
|
|
NM_024529.5(CDC73):c.189A>G (p.Leu63=)
|
rs1675542629
|
|
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
|
|
|
NM_024529.5(CDC73):c.18C>T (p.Ser6=)
|
rs564726032
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.192T>C (p.Leu64=)
|
rs1675542758
|
|
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
|
|
|
NM_024529.5(CDC73):c.193A>C (p.Asn65His)
|
rs2103113994
|
|
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp)
|
rs1675542823
|
|
NM_024529.5(CDC73):c.196A>T (p.Asn66Tyr)
|
|
|
NM_024529.5(CDC73):c.1A>G (p.Met1Val)
|
rs1558276054
|
|
NM_024529.5(CDC73):c.201del (p.His68fs)
|
rs2103114004
|
|
NM_024529.5(CDC73):c.202C>T (p.His68Tyr)
|
|
|
NM_024529.5(CDC73):c.203A>C (p.His68Pro)
|
|
|
NM_024529.5(CDC73):c.205C>G (p.Leu69Val)
|
rs1675543142
|
|
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe)
|
rs1675543142
|
|
NM_024529.5(CDC73):c.211C>G (p.His71Asp)
|
rs2103114010
|
|
NM_024529.5(CDC73):c.213T>C (p.His71=)
|
|
|
NM_024529.5(CDC73):c.216_235dup (p.Ala79fs)
|
|
|
NM_024529.5(CDC73):c.21C>G (p.Val7=)
|
rs769522707
|
|
NM_024529.5(CDC73):c.21C>T (p.Val7=)
|
rs769522707
|
|
NM_024529.5(CDC73):c.220dup (p.Tyr74fs)
|
rs1572142597
|
|
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
|
|
|
NM_024529.5(CDC73):c.225C>A (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.225C>G (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.225C>T (p.Val75=)
|
rs1327944866
|
|
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
|
|
|
NM_024529.5(CDC73):c.22C>T (p.Leu8=)
|
rs1366872937
|
|
NM_024529.5(CDC73):c.230G>A (p.Arg77His)
|
rs1572142617
|
|
NM_024529.5(CDC73):c.230G>C (p.Arg77Pro)
|
rs1572142617
|
|
NM_024529.5(CDC73):c.230G>T (p.Arg77Leu)
|
|
|
NM_024529.5(CDC73):c.233C>G (p.Ala78Gly)
|
|
|
NM_024529.5(CDC73):c.234A>C (p.Ala78=)
|
rs2103114047
|
|
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
|
|
|
NM_024529.5(CDC73):c.237+14A>G
|
|
|
NM_024529.5(CDC73):c.237+18del
|
rs753979898
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+1G>C
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+28T>C
|
rs4466634
|
|
NM_024529.5(CDC73):c.237+3A>G
|
|
|
NM_024529.5(CDC73):c.237+4A>G
|
|
|
NM_024529.5(CDC73):c.237+5G>A
|
rs1675543609
|
|
NM_024529.5(CDC73):c.237_237+1insA
|
|
|
NM_024529.5(CDC73):c.238-10T>G
|
|
|
NM_024529.5(CDC73):c.238-14A>G
|
rs2103117745
|
|
NM_024529.5(CDC73):c.238-15A>G
|
|
|
NM_024529.5(CDC73):c.238-17T>C
|
|
|
NM_024529.5(CDC73):c.238-17T>G
|
|
|
NM_024529.5(CDC73):c.238-1G>A
|
rs587776559
|
|
NM_024529.5(CDC73):c.238-3dup
|
rs1553278252
|
|
NM_024529.5(CDC73):c.238-5T>C
|
rs2103117757
|
|
NM_024529.5(CDC73):c.238-6T>A
|
rs1675669973
|
|
NM_024529.5(CDC73):c.238-7G>A
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-7G>C
|
rs1572146600
|
|
NM_024529.5(CDC73):c.238-8G>A
|
rs2103117753
|
|
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala)
|
rs2103117767
|
|
NM_024529.5(CDC73):c.244A>G (p.Asn82Asp)
|
rs2103117785
|
|
NM_024529.5(CDC73):c.245del (p.Asn82fs)
|
rs1060500009
|
|
NM_024529.5(CDC73):c.249T>C (p.Ile83=)
|
|
|
NM_024529.5(CDC73):c.250C>A (p.Pro84Thr)
|
|
|
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser)
|
rs754686636
|
|
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
|
|
|
NM_024529.5(CDC73):c.252T>C (p.Pro84=)
|
rs1572146630
|
|
NM_024529.5(CDC73):c.258T>C (p.Val86=)
|
rs1060500023
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.261A>G (p.Arg87=)
|
rs2103117840
|
|
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln)
|
rs2103111603
|
|
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
|
|
|
NM_024529.5(CDC73):c.26G>T (p.Arg9Leu)
|
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
NM_024529.5(CDC73):c.272G>A (p.Arg91Gln)
|
|
|
NM_024529.5(CDC73):c.282A>G (p.Leu94=)
|
|
|
NM_024529.5(CDC73):c.282A>T (p.Leu94=)
|
rs932737851
|
|
NM_024529.5(CDC73):c.283C>T (p.Leu95Phe)
|
|
|
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro)
|
rs2103117916
|
|
NM_024529.5(CDC73):c.285T>G (p.Leu95=)
|
rs1572146653
|
|
NM_024529.5(CDC73):c.288A>T (p.Gly96=)
|
|
|
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
|
|
|
NM_024529.5(CDC73):c.294C>A (p.Leu98=)
|
|
|
NM_024529.5(CDC73):c.294C>G (p.Leu98=)
|
|
|
NM_024529.5(CDC73):c.294C>T (p.Leu98=)
|
rs1675671233
|
|
NM_024529.5(CDC73):c.295A>G (p.Asn99Asp)
|
rs2103117949
|
|
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser)
|
rs1060500017
|
|
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
|
|
|
NM_024529.5(CDC73):c.299G>A (p.Gly100Asp)
|
|
|
NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)
|
|
|
NM_024529.5(CDC73):c.29A>T (p.Gln10Leu)
|
rs2103111611
|
|
NM_024529.5(CDC73):c.2dup (p.Met1fs)
|
|
|
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys)
|
rs772376553
|
|
NM_024529.5(CDC73):c.303A>G (p.Glu101=)
|
|
|
NM_024529.5(CDC73):c.304G>A (p.Ala102Thr)
|
rs1675671504
|
|
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser)
|
rs1675671504
|
|
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
|
|
|
NM_024529.5(CDC73):c.307+10T>G
|
|
|
NM_024529.5(CDC73):c.307+15A>G
|
|
|
NM_024529.5(CDC73):c.307+16A>G
|
|
|
NM_024529.5(CDC73):c.307+17T>A
|
|
|
NM_024529.5(CDC73):c.307+19G>T
|
|
|
NM_024529.5(CDC73):c.307+1G>A
|
|
|
NM_024529.5(CDC73):c.307+2T>G
|
|
|
NM_024529.5(CDC73):c.307+3G>A
|
|
|
NM_024529.5(CDC73):c.307+5G>A
|
|
|
NM_024529.5(CDC73):c.307+5G>C
|
|
|
NM_024529.5(CDC73):c.307+5G>T
|
rs2103117996
|
|
NM_024529.5(CDC73):c.307+7A>G
|
rs1553278270
|
|
NM_024529.5(CDC73):c.307+9T>C
|
rs2103118004
|
|
NM_024529.5(CDC73):c.307+9T>G
|
|
|
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro)
|
rs1675671751
|
|
NM_024529.5(CDC73):c.308-10A>C
|
rs1572150389
|
|
NM_024529.5(CDC73):c.308-10_308-9del
|
rs2103121417
|
|
NM_024529.5(CDC73):c.308-11del
|
|
|
NM_024529.5(CDC73):c.308-12T>G
|
|
|
NM_024529.5(CDC73):c.308-15T>G
|
rs1196256327
|
|
NM_024529.5(CDC73):c.308-16C>G
|
|
|
NM_024529.5(CDC73):c.308-18A>C
|
|
|
NM_024529.5(CDC73):c.308-20G>A
|
|
|
NM_024529.5(CDC73):c.308-3C>T
|
|
|
NM_024529.5(CDC73):c.308-6C>T
|
|
|
NM_024529.5(CDC73):c.308-7T>A
|
|
|
NM_024529.5(CDC73):c.308-9T>C
|
rs1572150390
|
|
NM_024529.5(CDC73):c.309A>G (p.Ser103=)
|
|
|
NM_024529.5(CDC73):c.30G>A (p.Gln10=)
|
rs764533991
|
|
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser)
|
rs1675773683
|
|
NM_024529.5(CDC73):c.312A>G (p.Thr104=)
|
rs747337987
|
|
NM_024529.5(CDC73):c.312A>T (p.Thr104=)
|
|
|
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)
|
rs1675773790
|
|
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
|
|
|
NM_024529.5(CDC73):c.318A>G (p.Ala106=)
|
|
|
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly)
|
rs1374821216
|
|
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
|
|
|
NM_024529.5(CDC73):c.328A>C (p.Arg110=)
|
rs2103121465
|
|
NM_024529.5(CDC73):c.331del (p.Ser111fs)
|
rs2103121472
|
|
NM_024529.5(CDC73):c.336T>A (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.336T>G (p.Ala112=)
|
|
|
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)
|
rs2103121496
|
|
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe)
|
rs1675774810
|
|
NM_024529.5(CDC73):c.342A>G (p.Leu114=)
|
|
|
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
|
|
|
NM_024529.5(CDC73):c.346A>G (p.Ile116Val)
|
|
|
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
|
|
|
NM_024529.5(CDC73):c.349G>A (p.Gly117Ser)
|
rs1675774944
|
|
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
|
|
|
NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)
|
|
|
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)
|
rs886041278
|
|
NM_024529.5(CDC73):c.357G>A (p.Gln119=)
|
rs2103121514
|
|
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)
|
rs1572150469
|
|
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln)
|
rs2103121520
|
|
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
|
|
|
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
|
|
|
NM_024529.5(CDC73):c.360A>T (p.Arg120=)
|
rs2103121528
|
|
NM_024529.5(CDC73):c.366T>C (p.Thr122=)
|
rs2103121532
|
|
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
|
|
|
NM_024529.5(CDC73):c.370+10G>T
|
rs1572150508
|
|
NM_024529.5(CDC73):c.370+11T>A
|
|
|
NM_024529.5(CDC73):c.370+15A>G
|
rs773172494
|
|
NM_024529.5(CDC73):c.370+15A>T
|
|
|
NM_024529.5(CDC73):c.370+3A>G
|
|
|
NM_024529.5(CDC73):c.370+3A>T
|
|
|
NM_024529.5(CDC73):c.370+7C>T
|
rs1375228161
|
|
NM_024529.5(CDC73):c.370+9T>A
|
rs1553278822
|
|
NM_024529.5(CDC73):c.371-10T>A
|
|
|
NM_024529.5(CDC73):c.371-11T>C
|
|
|
NM_024529.5(CDC73):c.371-11_371-10del
|
|
|
NM_024529.5(CDC73):c.371-12T>G
|
|
|
NM_024529.5(CDC73):c.371-13C>A
|
|
|
NM_024529.5(CDC73):c.371-13C>G
|
|
|
NM_024529.5(CDC73):c.371-13C>T
|
|
|
NM_024529.5(CDC73):c.371-13_371-12del
|
rs1558282411
|
|
NM_024529.5(CDC73):c.371-14T>G
|
|
|
NM_024529.5(CDC73):c.371-15C>G
|
|
|
NM_024529.5(CDC73):c.371-16T>G
|
|
|
NM_024529.5(CDC73):c.371-17T>G
|
rs763780849
|
|
NM_024529.5(CDC73):c.371-19A>T
|
rs2103121613
|
|
NM_024529.5(CDC73):c.371-20T>C
|
rs2103121611
|
|
NM_024529.5(CDC73):c.371-4A>C
|
|
|
NM_024529.5(CDC73):c.371-5T>A
|
|
|
NM_024529.5(CDC73):c.371-5TA[3]
|
rs1553278836
|
|
NM_024529.5(CDC73):c.371-6T>A
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-6T>C
|
rs1060500024
|
|
NM_024529.5(CDC73):c.371-9_371-6del
|
|
|
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr)
|
rs1455915064
|
|
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
|
|
|
NM_024529.5(CDC73):c.375A>G (p.Lys125=)
|
rs1572150593
|
|
NM_024529.5(CDC73):c.375dup (p.Arg126fs)
|
rs1572150584
|
|
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)
|
rs1553278844
|
|
NM_024529.5(CDC73):c.377G>A (p.Arg126Gln)
|
rs1675777366
|
|
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr)
|
rs1675777420
|
|
NM_024529.5(CDC73):c.37A>G (p.Ile13Val)
|
rs762220544
|
|
NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)
|
|
|
NM_024529.5(CDC73):c.380C>T (p.Ala127Val)
|
rs1558282443
|
|
NM_024529.5(CDC73):c.386A>G (p.Asp129Gly)
|
rs1675777865
|
|
NM_024529.5(CDC73):c.388G>A (p.Glu130Lys)
|
|
|
NM_024529.5(CDC73):c.38T>C (p.Ile13Thr)
|
|
|
NM_024529.5(CDC73):c.393T>A (p.Val131=)
|
rs1572150622
|
|
NM_024529.5(CDC73):c.394T>A (p.Leu132Ile)
|
|
|
NM_024529.5(CDC73):c.396A>G (p.Leu132=)
|
|
|
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
|
|
|
NM_024529.5(CDC73):c.399A>G (p.Ala133=)
|
rs1553278851
|
|
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
|
|
|
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)
|
rs28942098
|
|
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly)
|
rs1675778193
|
|
NM_024529.5(CDC73):c.405A>G (p.Ala135=)
|
rs2103121701
|
|
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)
|
rs2103121703
|
|
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr)
|
rs369542555
|
|
NM_024529.5(CDC73):c.412C>G (p.Pro138Ala)
|
|
|
NM_024529.5(CDC73):c.413C>T (p.Pro138Leu)
|
rs2103121717
|
|
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
NM_024529.5(CDC73):c.419T>G (p.Ile140Ser)
|
rs1675778444
|
|
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
|
|
|
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg)
|
rs767638609
|
|
NM_024529.5(CDC73):c.420T>C (p.Ile140=)
|
|
|
NM_024529.5(CDC73):c.423+10C>A
|
|
|
NM_024529.5(CDC73):c.423+11dup
|
|
|
NM_024529.5(CDC73):c.423+12_423+13del
|
rs770561055
|
|
NM_024529.5(CDC73):c.423+13T>C
|
rs2103121752
|
|
NM_024529.5(CDC73):c.423+14A>G
|
|
|
NM_024529.5(CDC73):c.423+14A>T
|
|
|
NM_024529.5(CDC73):c.423+15T>A
|
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTNNNNNNN
|
rs2103121762
|
|
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCAAGAAACTGTATTTT
|
rs2103121737
|
|
NM_024529.5(CDC73):c.423+1G>A
|
rs1131691732
|
|
NM_024529.5(CDC73):c.423+3A>G
|
|
|
NM_024529.5(CDC73):c.423+4A>G
|
|
|
NM_024529.5(CDC73):c.423+6G>A
|
|
|
NM_024529.5(CDC73):c.423+6G>T
|
|
|
NM_024529.5(CDC73):c.423+6_423+9del
|
|
|
NM_024529.5(CDC73):c.423+9A>G
|
|
|
NM_024529.5(CDC73):c.423+9dup
|
|
|
NM_024529.5(CDC73):c.423G>A (p.Glu141=)
|
rs1291044007
|
|
NM_024529.5(CDC73):c.424-10T>C
|
|
|
NM_024529.5(CDC73):c.424-11G>A
|
|
|
NM_024529.5(CDC73):c.424-12G>A
|
|
|
NM_024529.5(CDC73):c.424-14G>A
|
|
|
NM_024529.5(CDC73):c.424-15A>G
|
|
|
NM_024529.5(CDC73):c.424-18A>G
|
|
|
NM_024529.5(CDC73):c.430G>A (p.Glu144Lys)
|
rs1558283535
|
|
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg)
|
rs1675832296
|
|
NM_024529.5(CDC73):c.434G>A (p.Cys145Tyr)
|
|
|
NM_024529.5(CDC73):c.436G>C (p.Val146Leu)
|
|
|
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
|
|
|
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del)
|
rs1572139757
|
|
NM_024529.5(CDC73):c.441C>T (p.Arg147=)
|
|
|
NM_024529.5(CDC73):c.444T>G (p.Leu148=)
|
|
|
NM_024529.5(CDC73):c.44A>G (p.Lys15Arg)
|
|
|
NM_024529.5(CDC73):c.455_456del (p.Arg152fs)
|
rs1060500019
|
|
NM_024529.5(CDC73):c.456A>G (p.Arg152=)
|
rs1675832662
|
|
NM_024529.5(CDC73):c.459G>A (p.Leu153=)
|
rs1572152394
|
|
NM_024529.5(CDC73):c.461C>T (p.Ala154Val)
|
|
|
NM_024529.5(CDC73):c.465C>G (p.Ala155=)
|
rs559275109
|
|
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys)
|
rs2103123773
|
|
NM_024529.5(CDC73):c.467G>A (p.Arg156His)
|
rs1572152406
|
|
NM_024529.5(CDC73):c.46A>G (p.Lys16Glu)
|
rs1675464429
|
|
NM_024529.5(CDC73):c.471G>A (p.Leu157=)
|
rs1675832895
|
|
NM_024529.5(CDC73):c.473A>T (p.Glu158Val)
|
|
|
NM_024529.5(CDC73):c.477T>A (p.Gly159=)
|
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
NM_024529.5(CDC73):c.480C>T (p.His160=)
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
NM_024529.5(CDC73):c.483dup (p.Glu162fs)
|
rs1553279085
|
|
NM_024529.5(CDC73):c.48G>A (p.Lys16=)
|
rs2103111654
|
|
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
|
|
|
NM_024529.5(CDC73):c.493G>A (p.Val165Ile)
|
|
|
NM_024529.5(CDC73):c.495A>G (p.Val165=)
|
rs2103123800
|
|
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter)
|
rs2103123807
|
|
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
|
|
|
NM_024529.5(CDC73):c.4del (p.Ala2fs)
|
rs1060500020
|
|
NM_024529.5(CDC73):c.501T>A (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501T>G (p.Thr167=)
|
rs200603992
|
|
NM_024529.5(CDC73):c.501_502del (p.Glu168fs)
|
rs2103123824
|
|
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)
|
rs1553279088
|
|
NM_024529.5(CDC73):c.510T>C (p.Ile170=)
|
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
NM_024529.5(CDC73):c.512+10C>A
|
rs147939077
|
|
NM_024529.5(CDC73):c.512+11T>G
|
|
|
NM_024529.5(CDC73):c.512+14T>G
|
rs2103123848
|
|
NM_024529.5(CDC73):c.512+15T>A
|
|
|
NM_024529.5(CDC73):c.512+16A>G
|
rs2103123856
|
|
NM_024529.5(CDC73):c.512+18G>T
|
rs2103123859
|
|
NM_024529.5(CDC73):c.512+1del
|
|
|
NM_024529.5(CDC73):c.512+3A>C
|
rs1558283570
|
|
NM_024529.5(CDC73):c.512+4A>C
|
|
|
NM_024529.5(CDC73):c.512+5G>C
|
rs557303948
|
|
NM_024529.5(CDC73):c.512+6A>C
|
|
|
NM_024529.5(CDC73):c.512+6A>G
|
|
|
NM_024529.5(CDC73):c.512+6A>T
|
rs1216367951
|
|
NM_024529.5(CDC73):c.512+8T>C
|
rs2103123836
|
|
NM_024529.5(CDC73):c.513-10T>C
|
|
|
NM_024529.5(CDC73):c.513-12A>G
|
|
|
NM_024529.5(CDC73):c.513-14G>T
|
|
|
NM_024529.5(CDC73):c.513-18A>G
|
|
|
NM_024529.5(CDC73):c.513-1G>A
|
|
|
NM_024529.5(CDC73):c.513-20A>T
|
|
|
NM_024529.5(CDC73):c.513-8G>C
|
rs757366134
|
|
NM_024529.5(CDC73):c.516T>C (p.Ser172=)
|
|
|
NM_024529.5(CDC73):c.517T>C (p.Leu173=)
|
rs1675912278
|
|
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
|
|
|
NM_024529.5(CDC73):c.525A>G (p.Glu175=)
|
|
|
NM_024529.5(CDC73):c.528T>C (p.Ala176=)
|
|
|
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
|
|
|
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
|
|
|
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
|
|
|
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
|
|
|
NM_024529.5(CDC73):c.53_54del (p.Ile18fs)
|
rs1558276157
|
|
NM_024529.5(CDC73):c.540A>G (p.Glu180=)
|
rs2103126183
|
|
NM_024529.5(CDC73):c.549del (p.Ala184fs)
|
|
|
NM_024529.5(CDC73):c.54T>C (p.Ile18=)
|
rs2103111672
|
|
NM_024529.5(CDC73):c.555C>A (p.Ile185=)
|
|
|
NM_024529.5(CDC73):c.55G>A (p.Val19Met)
|
rs1060500013
|
|
NM_024529.5(CDC73):c.564A>G (p.Lys188=)
|
|
|
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
|
|
|
NM_024529.5(CDC73):c.57G>A (p.Val19=)
|
|
|
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
|
|
|
NM_024529.5(CDC73):c.584del (p.Ser195fs)
|
|
|
NM_024529.5(CDC73):c.58G>A (p.Val20Met)
|
|
|
NM_024529.5(CDC73):c.591C>T (p.Ile197=)
|
rs1675913192
|
|
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
|
|
|
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
|
|
|
NM_024529.5(CDC73):c.59T>C (p.Val20Ala)
|
|
|
NM_024529.5(CDC73):c.606T>C (p.Asp202=)
|
|
|
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
|
|
|
NM_024529.5(CDC73):c.60G>A (p.Val20=)
|
rs1572139778
|
|
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
|
|
|
NM_024529.5(CDC73):c.617C>G (p.Thr206Ser)
|
|
|
NM_024529.5(CDC73):c.619G>A (p.Ala207Thr)
|
rs1060500016
|
|
NM_024529.5(CDC73):c.621C>T (p.Ala207=)
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter)
|
rs2103126265
|
|
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
|
|
|
NM_024529.5(CDC73):c.633G>A (p.Arg211=)
|
|
|
NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)
|
|
|
NM_024529.5(CDC73):c.640G>A (p.Val214Met)
|
rs1675913675
|
|
NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)
|
|
|
NM_024529.5(CDC73):c.645T>C (p.Asp215=)
|
rs2103126282
|
|
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
|
|
|
NM_024529.5(CDC73):c.648T>C (p.Ala216=)
|
rs143149579
|
|
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)
|
rs1675465013
|
|
NM_024529.5(CDC73):c.656A>G (p.Asp219Gly)
|
|
|
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)
|
rs886045713
|
|
NM_024529.5(CDC73):c.65G>A (p.Gly22Glu)
|
|
|
NM_024529.5(CDC73):c.65G>C (p.Gly22Ala)
|
rs1675465059
|
|
NM_024529.5(CDC73):c.663C>T (p.Thr221=)
|
rs2103126329
|
|
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)
|
rs770439843
|
|
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln)
|
rs1572154825
|
|
NM_024529.5(CDC73):c.670A>G (p.Ile224Val)
|
rs1675914120
|
|
NM_024529.5(CDC73):c.672T>A (p.Ile224=)
|
|
|
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly)
|
rs2103126362
|
|
NM_024529.5(CDC73):c.678C>T (p.Ser226=)
|
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.682G>A (p.Glu228Lys)
|
|
|
NM_024529.5(CDC73):c.683A>C (p.Glu228Ala)
|
|
|
NM_024529.5(CDC73):c.684G>C (p.Glu228Asp)
|
rs368708158
|
|
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
|
|
|
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.687A>G (p.Arg229=)
|
rs1675914685
|
|
NM_024529.5(CDC73):c.687A>T (p.Arg229Ser)
|
rs1675914685
|
|
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.688G>A (p.Val230Ile)
|
rs2103126383
|
|
NM_024529.5(CDC73):c.689T>A (p.Val230Glu)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.689T>C (p.Val230Ala)
|
rs1558285020
|
|
NM_024529.5(CDC73):c.690A>T (p.Val230=)
|
|
|
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg)
|
rs1060500022
|
|
NM_024529.5(CDC73):c.699A>G (p.Thr233=)
|
|
|
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)
|
rs1675465120
|
|
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
|
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
NM_024529.5(CDC73):c.701G>A (p.Arg234Gln)
|
|
|
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
|
|
|
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala)
|
rs2103126444
|
|
NM_024529.5(CDC73):c.703A>T (p.Thr235Ser)
|
|
|
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
|
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
|
|
|
NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)
|
|
|
NM_024529.5(CDC73):c.711C>A (p.Ile237=)
|
rs2103126478
|
|
NM_024529.5(CDC73):c.718del (p.Ser240fs)
|
rs1572154885
|
|
NM_024529.5(CDC73):c.719G>A (p.Ser240Asn)
|
|
|
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala)
|
rs1572154890
|
|
NM_024529.5(CDC73):c.721A>T (p.Thr241Ser)
|
|
|
NM_024529.5(CDC73):c.723A>G (p.Thr241=)
|
rs2103126502
|
|
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
|
|
|
NM_024529.5(CDC73):c.726A>G (p.Gly242=)
|
rs2103126513
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
NM_024529.5(CDC73):c.729+10A>T
|
|
|
NM_024529.5(CDC73):c.729+12A>G
|
|
|
NM_024529.5(CDC73):c.729+13T>C
|
|
|
NM_024529.5(CDC73):c.729+18_729+21del
|
rs1558285044
|
|
NM_024529.5(CDC73):c.729+19T>G
|
|
|
NM_024529.5(CDC73):c.729+1G>T
|
rs1060500012
|
|
NM_024529.5(CDC73):c.729+3A>G
|
|
|
NM_024529.5(CDC73):c.729+5T>C
|
|
|
NM_024529.5(CDC73):c.729+6del
|
|
|
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn)
|
rs2103126521
|
|
NM_024529.5(CDC73):c.72A>G (p.Glu24=)
|
rs1572139792
|
|
NM_024529.5(CDC73):c.730-10T>C
|
rs2103130504
|
|
NM_024529.5(CDC73):c.730-10T>G
|
|
|
NM_024529.5(CDC73):c.730-14C>T
|
|
|
NM_024529.5(CDC73):c.730-16T>C
|
|
|
NM_024529.5(CDC73):c.730-19A>G
|
|
|
NM_024529.5(CDC73):c.730-5T>C
|
rs2103130512
|
|
NM_024529.5(CDC73):c.730-6T>C
|
rs1060503809
|
|
NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)
|
|
|
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)
|
rs368199363
|
|
NM_024529.5(CDC73):c.733T>G (p.Phe245Val)
|
rs2103130516
|
|
NM_024529.5(CDC73):c.738C>T (p.Ser246=)
|
rs2103130522
|
|
NM_024529.5(CDC73):c.744C>T (p.Asn248=)
|
rs866174269
|
|
NM_024529.5(CDC73):c.745A>G (p.Ile249Val)
|
|
|
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr)
|
rs973863694
|
|
NM_024529.5(CDC73):c.748T>A (p.Phe250Ile)
|
rs2103130536
|
|
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
|
|
|
NM_024529.5(CDC73):c.751G>A (p.Ala251Thr)
|
rs1676029137
|
|
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly)
|
rs2103130541
|
|
NM_024529.5(CDC73):c.753A>T (p.Ala251=)
|
|
|
NM_024529.5(CDC73):c.756T>A (p.Ile252=)
|
|
|
NM_024529.5(CDC73):c.757C>A (p.Leu253Ile)
|
|
|
NM_024529.5(CDC73):c.75G>T (p.Val25=)
|
|
|
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg)
|
rs2103130545
|
|
NM_024529.5(CDC73):c.762A>C (p.Gln254His)
|
|
|
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
|
|
|
NM_024529.5(CDC73):c.766G>A (p.Val256Ile)
|
rs1472498930
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_024529.5(CDC73):c.768A>G (p.Val256=)
|
|
|
NM_024529.5(CDC73):c.76A>G (p.Ile26Val)
|
rs1675465327
|
|
NM_024529.5(CDC73):c.774C>G (p.Ala258=)
|
|
|
NM_024529.5(CDC73):c.774C>T (p.Ala258=)
|
rs1161574170
|
|
NM_024529.5(CDC73):c.776_778del (p.Arg259_Glu260delinsLys)
|
|
|
NM_024529.5(CDC73):c.779AAG[1] (p.Glu261del)
|
|
|
NM_024529.5(CDC73):c.786G>A (p.Gly262=)
|
|
|
NM_024529.5(CDC73):c.786G>T (p.Gly262=)
|
rs764471804
|
|
NM_024529.5(CDC73):c.792A>C (p.Ala264=)
|
|
|
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
|
|
|
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
|
|
|
NM_024529.5(CDC73):c.795T>C (p.Pro265=)
|
rs1060503804
|
|
NM_024529.5(CDC73):c.798A>G (p.Glu266=)
|
rs2103130582
|
|
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
|
|
|
NM_024529.5(CDC73):c.7dup (p.Asp3fs)
|
rs1675462891
|
|
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg)
|
rs2103130586
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro)
|
rs750706815
|
|
NM_024529.5(CDC73):c.804A>T (p.Arg268=)
|
rs2103130595
|
|
NM_024529.5(CDC73):c.805C>A (p.Pro269Thr)
|
rs1572158663
|
|
NM_024529.5(CDC73):c.805C>T (p.Pro269Ser)
|
rs1572158663
|
|
NM_024529.5(CDC73):c.807T>G (p.Pro269=)
|
|
|
NM_024529.5(CDC73):c.809C>A (p.Ala270Asp)
|
rs981067363
|
|
NM_024529.5(CDC73):c.809_826del (p.Ala270_Pro275del)
|
|
|
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)
|
rs765029460
|
|
NM_024529.5(CDC73):c.811C>T (p.Pro271Ser)
|
rs765029460
|
|
NM_024529.5(CDC73):c.812C>G (p.Pro271Arg)
|
|
|
NM_024529.5(CDC73):c.814A>G (p.Asn272Asp)
|
|
|
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile)
|
rs752383339
|
|
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys)
|
rs2103130616
|
|
NM_024529.5(CDC73):c.817G>A (p.Ala273Thr)
|
|
|
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
|
|
|
NM_024529.5(CDC73):c.818C>T (p.Ala273Val)
|
rs2103130620
|
|
NM_024529.5(CDC73):c.81C>T (p.Phe27=)
|
|
|
NM_024529.5(CDC73):c.828+10C>G
|
rs1442123779
|
|
NM_024529.5(CDC73):c.828+14A>C
|
rs746954367
|
|
NM_024529.5(CDC73):c.828+14A>G
|
|
|
NM_024529.5(CDC73):c.828+15C>T
|
|
|
NM_024529.5(CDC73):c.828+16T>C
|
rs1450561584
|
|
NM_024529.5(CDC73):c.828+16T>G
|
|
|
NM_024529.5(CDC73):c.828+18C>T
|
|
|
NM_024529.5(CDC73):c.828+4A>G
|
rs777621924
|
|
NM_024529.5(CDC73):c.828+7A>C
|
|
|
NM_024529.5(CDC73):c.828+8T>A
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8T>C
|
rs2103130641
|
|
NM_024529.5(CDC73):c.828+8TGCTTTAC[3]
|
|
|
NM_024529.5(CDC73):c.828G>A (p.Val276=)
|
rs1558287563
|
|
NM_024529.5(CDC73):c.829-12A>C
|
|
|
NM_024529.5(CDC73):c.829-12A>G
|
|
|
NM_024529.5(CDC73):c.829-13_829-10del
|
|
|
NM_024529.5(CDC73):c.829-13_829-8del
|
|
|
NM_024529.5(CDC73):c.829-20C>G
|
|
|
NM_024529.5(CDC73):c.829-3C>T
|
|
|
NM_024529.5(CDC73):c.829-4A>G
|
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
NM_024529.5(CDC73):c.831T>C (p.Asp277=)
|
rs1572160261
|
|
NM_024529.5(CDC73):c.832C>A (p.Pro278Thr)
|
|
|
NM_024529.5(CDC73):c.833C>A (p.Pro278His)
|
rs1676083095
|
|
NM_024529.5(CDC73):c.833C>T (p.Pro278Leu)
|
rs1676083095
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
NM_024529.5(CDC73):c.838T>A (p.Leu280Met)
|
|
|
NM_024529.5(CDC73):c.83G>A (p.Gly28Glu)
|
|
|
NM_024529.5(CDC73):c.83G>C (p.Gly28Ala)
|
rs1054465259
|
|
NM_024529.5(CDC73):c.842G>T (p.Arg281Leu)
|
|
|
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
|
|
|
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser)
|
rs369024183
|
|
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu)
|
rs1572160304
|
|
NM_024529.5(CDC73):c.848A>C (p.Lys283Thr)
|
rs1676083588
|
|
NM_024529.5(CDC73):c.849A>G (p.Lys283=)
|
rs757206621
|
|
NM_024529.5(CDC73):c.84G>C (p.Gly28=)
|
|
|
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
|
|
|
NM_024529.5(CDC73):c.852G>A (p.Gln284=)
|
rs773602413
|
|
NM_024529.5(CDC73):c.852G>C (p.Gln284His)
|
rs773602413
|
|
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
|
|
|
NM_024529.5(CDC73):c.855T>C (p.Pro285=)
|
rs1553280489
|
|
NM_024529.5(CDC73):c.858C>T (p.Ile286=)
|
rs2103132194
|
|
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)
|
rs1131691698
|
|
NM_024529.5(CDC73):c.85del (p.Glu29fs)
|
rs587776560
|
|
NM_024529.5(CDC73):c.860C>G (p.Pro287Arg)
|
|
|
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu)
|
rs1131691352
|
|
NM_024529.5(CDC73):c.861A>G (p.Pro287=)
|
rs2103132198
|
|
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
|
|
|
NM_024529.5(CDC73):c.867C>A (p.Ala289=)
|
rs749915144
|
|
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser)
|
rs2103132204
|
|
NM_024529.5(CDC73):c.877dup (p.Tyr293fs)
|
rs2103132218
|
|
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter)
|
rs2103132220
|
|
NM_024529.5(CDC73):c.87G>A (p.Glu29=)
|
rs752004076
|
|
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp)
|
rs752004076
|
|
NM_024529.5(CDC73):c.880G>C (p.Asp294His)
|
rs2103132225
|
|
NM_024529.5(CDC73):c.881A>G (p.Asp294Gly)
|
rs1572160332
|
|
NM_024529.5(CDC73):c.882T>C (p.Asp294=)
|
rs112540003
|
|
NM_024529.5(CDC73):c.892T>A (p.Phe298Ile)
|
|
|
NM_024529.5(CDC73):c.892T>G (p.Phe298Val)
|
rs1676084476
|
|
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
|
|
|
NM_024529.5(CDC73):c.893del (p.Phe298fs)
|
rs2103132250
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
NM_024529.5(CDC73):c.907+10T>C
|
rs2103132274
|
|
NM_024529.5(CDC73):c.907+11T>C
|
|
|
NM_024529.5(CDC73):c.907+16C>G
|
|
|
NM_024529.5(CDC73):c.907+16C>T
|
|
|
NM_024529.5(CDC73):c.907+17T>C
|
rs2103132285
|
|
NM_024529.5(CDC73):c.907+19A>C
|
|
|
NM_024529.5(CDC73):c.907+19A>G
|
|
|
NM_024529.5(CDC73):c.907+19dup
|
|
|
NM_024529.5(CDC73):c.907+2C>T
|
|
|
NM_024529.5(CDC73):c.907+4A>C
|
|
|
NM_024529.5(CDC73):c.907+4A>G
|
rs768964233
|
|
NM_024529.5(CDC73):c.907+5G>A
|
|
|
NM_024529.5(CDC73):c.907+6T>A
|
rs2103132269
|
|
NM_024529.5(CDC73):c.907+8G>A
|
|
|
NM_024529.5(CDC73):c.907+8G>C
|
rs1676084560
|
|
NM_024529.5(CDC73):c.907+8del
|
|
|
NM_024529.5(CDC73):c.908-10T>A
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-10T>C
|
rs1676129844
|
|
NM_024529.5(CDC73):c.908-11T>G
|
|
|
NM_024529.5(CDC73):c.908-14C>G
|
|
|
NM_024529.5(CDC73):c.908-16C>T
|
|
|
NM_024529.5(CDC73):c.908-17C>T
|
|
|
NM_024529.5(CDC73):c.908-18G>A
|
rs529592893
|
|
NM_024529.5(CDC73):c.908-19A>C
|
|
|
NM_024529.5(CDC73):c.908-19A>G
|
|
|
NM_024529.5(CDC73):c.908-3T>C
|
rs2103133616
|
|
NM_024529.5(CDC73):c.908-4G>A
|
rs748472788
|
|
NM_024529.5(CDC73):c.908-4G>C
|
|
|
NM_024529.5(CDC73):c.908-6T>C
|
rs2103133605
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-6dup
|
rs563805986
|
|
NM_024529.5(CDC73):c.908-9T>C
|
rs1060503805
|
|
NM_024529.5(CDC73):c.908-9T>G
|
rs1060503805
|
|
NM_024529.5(CDC73):c.90C>T (p.Phe30=)
|
rs2103111735
|
|
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
|
|
|
NM_024529.5(CDC73):c.911C>T (p.Thr304Met)
|
|
|
NM_024529.5(CDC73):c.912G>A (p.Thr304=)
|
rs758730118
|
|
NM_024529.5(CDC73):c.912G>T (p.Thr304=)
|
rs758730118
|
|
NM_024529.5(CDC73):c.915A>G (p.Glu305=)
|
|
|
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp)
|
rs2103133623
|
|
NM_024529.5(CDC73):c.921C>T (p.Phe307=)
|
|
|
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
|
|
|
NM_024529.5(CDC73):c.923A>C (p.Lys308Thr)
|
|
|
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg)
|
rs376649069
|
|
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr)
|
rs1558276199
|
|
NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)
|
|
|
NM_024529.5(CDC73):c.942C>T (p.Thr314=)
|
|
|
NM_024529.5(CDC73):c.945C>T (p.Tyr315=)
|
rs1572161610
|
|
NM_024529.5(CDC73):c.951T>A (p.Gly317=)
|
|
|
NM_024529.5(CDC73):c.957A>G (p.Thr319=)
|
rs2103133662
|
|
NM_024529.5(CDC73):c.958C>T (p.Leu320=)
|
|
|
NM_024529.5(CDC73):c.963A>G (p.Lys321=)
|
|
|
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys)
|
rs1676130837
|
|
NM_024529.5(CDC73):c.96del (p.Trp32fs)
|
|
|
NM_024529.5(CDC73):c.972+12_972+14dup
|
|
|
NM_024529.5(CDC73):c.972+13G>C
|
|
|
NM_024529.5(CDC73):c.972+14G>T
|
rs1676131155
|
|
NM_024529.5(CDC73):c.972+17G>A
|
rs1309551469
|
|
NM_024529.5(CDC73):c.972+17G>C
|
|
|
NM_024529.5(CDC73):c.972+19A>G
|
|
|
NM_024529.5(CDC73):c.972+19A>T
|
|
|
NM_024529.5(CDC73):c.972+19dup
|
rs2103133685
|
|
NM_024529.5(CDC73):c.972+20G>A
|
|
|
NM_024529.5(CDC73):c.972+3A>G
|
rs1676130958
|
|
NM_024529.5(CDC73):c.972+8A>G
|
|
|
NM_024529.5(CDC73):c.972G>A (p.Thr324=)
|
rs369930569
|
|
NM_024529.5(CDC73):c.973-12A>G
|
|
|
NM_024529.5(CDC73):c.973-13T>A
|
rs2103178012
|
|
NM_024529.5(CDC73):c.973-14T>G
|
|
|
NM_024529.5(CDC73):c.973-16T>A
|
|
|
NM_024529.5(CDC73):c.973-17T>G
|
|
|
NM_024529.5(CDC73):c.973-18A>G
|
|
|
NM_024529.5(CDC73):c.973-18A>T
|
|
|
NM_024529.5(CDC73):c.973-20C>T
|
|
|
NM_024529.5(CDC73):c.973-6T>C
|
rs1677131770
|
|
NM_024529.5(CDC73):c.973-8T>C
|
rs557096653
|
|
NM_024529.5(CDC73):c.973-9C>A
|
rs377332359
|
|
NM_024529.5(CDC73):c.973-9C>G
|
rs377332359
|
|
NM_024529.5(CDC73):c.975G>A (p.Glu325=)
|
|
|
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser)
|
rs2103178025
|
|
NM_024529.5(CDC73):c.979G>A (p.Ala327Thr)
|
|
|
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
|
|
|
NM_024529.5(CDC73):c.980C>T (p.Ala327Val)
|
rs1677131810
|
|
NM_024529.5(CDC73):c.981A>C (p.Ala327=)
|
|
|
NM_024529.5(CDC73):c.981A>G (p.Ala327=)
|
rs1263863175
|
|
NM_024529.5(CDC73):c.984T>C (p.Ser328=)
|
|
|
NM_024529.5(CDC73):c.985G>A (p.Ala329Thr)
|
|
|
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser)
|
rs1436120903
|
|
NM_024529.5(CDC73):c.988C>A (p.Arg330=)
|
rs1244272523
|
|
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp)
|
rs1244272523
|
|
NM_024529.5(CDC73):c.989G>T (p.Arg330Leu)
|
rs149875598
|
|
NM_024529.5(CDC73):c.990G>T (p.Arg330=)
|
rs1677132126
|
|
NM_024529.5(CDC73):c.993G>C (p.Lys331Asn)
|
|
|
NM_024529.5(CDC73):c.994A>T (p.Thr332Ser)
|
rs1572196406
|
|
NM_024529.5(CDC73):c.997C>G (p.Gln333Glu)
|
|
|
NM_024529.5(CDC73):c.99C>T (p.Pro33=)
|
rs1572139851
|
|
NM_024529.5(CDC73):c.99del (p.Lys34fs)
|
|
|
NM_024529.5(CDC73):c.9C>T (p.Asp3=)
|
rs746910026
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
|
rs2139356308
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|
NM_080425.4(GNAS):c.910A>G (p.Ile304Val)
|
|
|
NM_130799.2(MEN1):c.-94G>A
|
rs886048480
|
|
NM_130799.2(MEN1):c.1351_*820del (p.Val451fs)
|
|
|
NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
|
rs371430235
|
|
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)
|
rs875989782
|
|
NM_177438.3(DICER1):c.4050+1G>A
|
rs875989783
|
|
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
|
rs875989784
|
|
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)
|
rs875989781
|
|
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)
|
rs875989779
|
|
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter)
|
rs875989780
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)
|
rs1554040964
|
|
NM_198253.3(TERT):c.200C>T (p.Ala67Val)
|
rs1554043124
|
|
NM_198253.3(TERT):c.337dup (p.Glu113fs)
|
rs1554043088
|
|
NM_198253.3(TERT):c.578C>T (p.Pro193Leu)
|
rs751762765
|
|
NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
|
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)
|
rs751409106
|
|
NM_207122.2(EXT2):c.1242C>T (p.Ile414=)
|
rs2135127852
|
|
PDGRL, 2-BP DEL
|
|
|
Single allele
|
|
|
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|