NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_003002.4(SDHD):c.*613T>C
|
rs693441
|
0.93280
|
NM_020975.6(RET):c.3187+47T>C
|
rs2075912
|
0.84041
|
NM_020975.6(RET):c.*1506G>A
|
rs2742241
|
0.83094
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.79547
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NC_000010.11:g.43077059A>G
|
rs10900296
|
0.77447
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_017849.4(TMEM127):c.*1958A>C
|
rs7058
|
0.56373
|
NC_000001.11:g.10381606T>C
|
rs3748581
|
0.53815
|
NM_002382.5(MAX):c.*587G>A
|
rs1957949
|
0.52668
|
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_020975.5(RET):c.-196C>A
|
rs10900297
|
0.41632
|
NM_020975.6(RET):c.867+48A>G
|
rs2435352
|
0.37996
|
NM_002382.5(MAX):c.*717T>C
|
rs4902358
|
0.27135
|
NM_002382.5(MAX):c.*92G>A
|
rs45604339
|
0.26844
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037
|
0.26503
|
NM_001365951.3(KIF1B):c.720+17C>T
|
rs1339458
|
0.25792
|
NM_004168.3(SDHA):c.-115T>C
|
rs2303741
|
0.25160
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23676
|
NM_020975.6(RET):c.*1116T>C
|
rs2435355
|
0.22170
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_020975.6(RET):c.2608-24G>A
|
rs2472737
|
0.20380
|
NM_020975.6(RET):c.2284+47C>T
|
rs760466
|
0.18873
|
NM_020975.6(RET):c.2712C>G (p.Ser904=)
|
rs1800863
|
0.17043
|
NM_020975.6(RET):c.*388G>A
|
rs3026782
|
0.17032
|
NM_020975.6(RET):c.*95C>T
|
rs17028
|
0.16697
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)
|
rs3852673
|
0.13717
|
NM_003001.4(SDHC):c.*1181_*1182insA
|
rs34067216
|
0.11567
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_003002.4(SDHD):c.*803A>G
|
rs17113461
|
0.10714
|
NM_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_017849.4(TMEM127):c.*338G>A
|
rs13022177
|
0.03241
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_017849.4(TMEM127):c.*1301T>C
|
rs3770239
|
0.01488
|
NM_002382.5(MAX):c.*603C>G
|
rs117802316
|
0.01457
|
NM_003001.5(SDHC):c.-32T>C
|
rs115782155
|
0.01342
|
NM_003002.4(SDHD):c.*532A>T
|
rs146261846
|
0.01251
|
NM_020975.6(RET):c.868-18G>A
|
rs57098408
|
0.01028
|
NM_017849.4(TMEM127):c.*2086C>T
|
rs13418193
|
0.00895
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_002382.5(MAX):c.*405G>A
|
rs45440292
|
0.00825
|
NM_002382.5(MAX):c.-100T>G
|
rs111941208
|
0.00769
|
NM_017849.4(TMEM127):c.*1163C>T
|
rs11691019
|
0.00769
|
NM_017849.4(TMEM127):c.*50C>T
|
rs72937654
|
0.00712
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_003002.4(SDHD):c.*622A>G
|
rs142510105
|
0.00694
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_017849.4(TMEM127):c.*2012C>T
|
rs149122699
|
0.00641
|
NM_020975.6(RET):c.*330A>G
|
rs141460872
|
0.00640
|
NM_020975.6(RET):c.*1870C>T
|
rs146771196
|
0.00539
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_002382.5(MAX):c.-94G>C
|
rs536235832
|
0.00379
|
NM_017849.4(TMEM127):c.*1306C>T
|
rs148119945
|
0.00371
|
NM_020975.6(RET):c.*1742G>A
|
rs143369221
|
0.00349
|
NM_017849.4(TMEM127):c.-87C>T
|
rs527792197
|
0.00319
|
NM_003002.4(SDHD):c.*186A>G
|
rs183918321
|
0.00317
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_020975.6(RET):c.*1583G>A
|
rs192065891
|
0.00300
|
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_020975.6(RET):c.*1558A>C
|
rs142572876
|
0.00260
|
NM_003001.3(SDHC):c.*1693G>A
|
rs191417790
|
0.00250
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_020975.6(RET):c.*1812C>A
|
rs183817000
|
0.00220
|
NM_020975.6(RET):c.337+12G>A
|
rs200468424
|
0.00198
|
NM_003001.5(SDHC):c.*397G>A
|
rs74124906
|
0.00189
|
NM_003001.5(SDHC):c.*518G>A
|
rs375109418
|
0.00189
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_017849.4(TMEM127):c.*2498C>T
|
rs191565203
|
0.00173
|
NM_017849.4(TMEM127):c.*2845T>G
|
rs182729595
|
0.00168
|
NM_017849.4(TMEM127):c.*1233C>T
|
rs536712285
|
0.00162
|
NM_003002.4(SDHD):c.*369A>G
|
rs200753024
|
0.00157
|
NM_001365951.3(KIF1B):c.-260C>T
|
rs149705989
|
0.00154
|
NM_017849.4(TMEM127):c.*2300G>A
|
rs117655540
|
0.00153
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_003002.4(SDHD):c.*352C>G
|
rs192900956
|
0.00137
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_017849.4(TMEM127):c.*502C>T
|
rs191970829
|
0.00128
|
NM_020975.6(RET):c.*1130A>G
|
rs572936041
|
0.00112
|
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_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_003001.4(SDHC):c.*1098T>C
|
rs569588829
|
0.00094
|
NM_017849.4(TMEM127):c.-59C>T
|
rs542087360
|
0.00093
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
NM_017849.4(TMEM127):c.*57C>T
|
rs147532087
|
0.00089
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00079
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)
|
rs9282834
|
0.00068
|
NM_002382.5(MAX):c.*1229C>T
|
rs562514408
|
0.00066
|
NM_017849.4(TMEM127):c.*2128C>A
|
rs533813582
|
0.00061
|
NM_017849.4(TMEM127):c.*980G>A
|
rs77989183
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
NM_002382.5(MAX):c.*144C>T
|
rs191382960
|
0.00050
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_017849.4(TMEM127):c.*2966C>G
|
rs17119378
|
0.00049
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_197957.4(MAX):c.172-5C>A
|
rs201052112
|
0.00047
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_020975.6(RET):c.*576G>A
|
rs185408658
|
0.00044
|
NM_020975.6(RET):c.*1644G>C
|
rs117119161
|
0.00043
|
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_017849.4(TMEM127):c.53C>T (p.Pro18Leu)
|
rs377740271
|
0.00036
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_017849.4(TMEM127):c.*3209A>G
|
rs186348610
|
0.00031
|
NM_002382.5(MAX):c.*128T>A
|
rs539193441
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_002382.5(MAX):c.-18C>T
|
rs201456746
|
0.00027
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_017849.4(TMEM127):c.*612C>T
|
rs549115489
|
0.00024
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_002382.5(MAX):c.-80G>A
|
rs886050634
|
0.00022
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_020975.6(RET):c.*84G>A
|
rs558718557
|
0.00022
|
NM_020975.6(RET):c.337+34C>T
|
rs368088467
|
0.00022
|
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_002382.5(MAX):c.*873T>C
|
rs183467855
|
0.00019
|
NM_002382.5(MAX):c.406G>A (p.Gly136Arg)
|
rs140490467
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_002382.5(MAX):c.*1123A>C
|
rs552459072
|
0.00014
|
NM_002382.5(MAX):c.-98G>T
|
rs556543602
|
0.00014
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.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_002382.5(MAX):c.*1276G>C
|
rs748335228
|
0.00013
|
NM_002382.5(MAX):c.*503T>G
|
rs886050633
|
0.00013
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_017849.4(TMEM127):c.*1178A>G
|
rs748572058
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.597C>T (p.Asn199=)
|
rs55810667
|
0.00012
|
NM_017849.4(TMEM127):c.*2121G>T
|
rs778493549
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_020975.6(RET):c.1353G>T (p.Thr451=)
|
rs201568301
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_002382.5(MAX):c.*375G>A
|
rs539220905
|
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_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
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.1879+13C>T
|
rs375573788
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
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_020975.6(RET):c.*1326T>C
|
rs141016377
|
0.00007
|
NM_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*44G>A
|
rs767990726
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
0.00006
|
NM_017849.4(TMEM127):c.*2503C>T
|
rs886056435
|
0.00006
|
NM_017849.4(TMEM127):c.*2875A>G
|
rs915390483
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_017849.4(TMEM127):c.*1723C>T
|
rs551200730
|
0.00005
|
NM_017849.4(TMEM127):c.*1879G>A
|
rs766485637
|
0.00005
|
NM_017849.4(TMEM127):c.*2800T>G
|
rs1037492575
|
0.00005
|
NM_017849.4(TMEM127):c.*3271A>G
|
rs569110562
|
0.00005
|
NM_017849.4(TMEM127):c.-220T>C
|
rs886056452
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.2418C>T (p.Tyr806=)
|
rs553418132
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
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_002382.5(MAX):c.*942C>T
|
rs886050630
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
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.*3560G>T
|
rs886056428
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_020975.6(RET):c.*1659T>C
|
rs886047012
|
0.00004
|
NM_020975.6(RET):c.*1900C>A
|
rs956882000
|
0.00004
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
NM_020975.6(RET):c.2976G>A (p.Pro992=)
|
rs528823385
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.603C>T (p.Ser201=)
|
rs780120451
|
0.00004
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_002382.5(MAX):c.-127G>A
|
rs886050637
|
0.00003
|
NM_002382.5(MAX):c.-30C>G
|
rs755465193
|
0.00003
|
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu)
|
rs149516118
|
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_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.3090C>T (p.Asp1030=)
|
rs142859395
|
0.00003
|
NM_020975.6(RET):c.582G>A (p.Gln194=)
|
rs368116579
|
0.00003
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
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_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_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_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
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.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_002382.5(MAX):c.*1285T>C
|
rs886050628
|
0.00001
|
NM_002382.5(MAX):c.*170C>T
|
rs762709691
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
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_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
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.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
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_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.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1539G>A (p.Ala513=)
|
rs761430718
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1908G>A (p.Thr636=)
|
rs886038663
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.235C>T (p.Arg79Trp)
|
rs537523906
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.432C>T (p.Arg144=)
|
rs756999107
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NC_000001.11:g.161364751del
|
rs57914150
|
|
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.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.340+714G>A
|
rs1054796088
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
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.509T>C (p.Val170Ala)
|
rs864321642
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_001271069.2(MAX):c.186T>G (p.Tyr62Ter)
|
|
|
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.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_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.172-6278_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_003000.2(SDHB):c.-81G>T
|
rs886045586
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)
|
rs864321639
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)
|
rs864321638
|
|
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)
|
rs864321637
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.423+1G>T
|
rs398122805
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.662A>G (p.Asp221Gly)
|
rs2101513961
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
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_003001.4(SDHC):c.*1012G>T
|
rs886045484
|
|
NM_003001.5(SDHC):c.*527G>T
|
rs886045481
|
|
NM_003001.5(SDHC):c.21-10dup
|
rs759481419
|
|
NM_003001.5(SDHC):c.406-13del
|
rs752685687
|
|
NM_003002.4(SDHD):c.*340A>G
|
rs201280702
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
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.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.386del (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_004168.3(SDHA):c.-84dup
|
rs35805262
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_017841.4(SDHAF2):c.*113C>A
|
rs886048416
|
|
NM_017841.4(SDHAF2):c.*170C>A
|
rs886048417
|
|
NM_017841.4(SDHAF2):c.*172del
|
rs537244040
|
|
NM_017841.4(SDHAF2):c.*627G>T
|
rs886048422
|
|
NM_017841.4(SDHAF2):c.*653A>G
|
rs886048423
|
|
NM_017841.4(SDHAF2):c.370+12G>A
|
rs886048415
|
|
NM_017849.4(TMEM127):c.*1197T>C
|
rs886056442
|
|
NM_017849.4(TMEM127):c.*1252C>G
|
rs886056441
|
|
NM_017849.4(TMEM127):c.*1406G>A
|
rs534881507
|
|
NM_017849.4(TMEM127):c.*1772G>A
|
rs537225254
|
|
NM_017849.4(TMEM127):c.*1819C>A
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1819C>G
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1883_*1886dup
|
rs886056439
|
|
NM_017849.4(TMEM127):c.*2101_*2103del
|
rs3832113
|
|
NM_017849.4(TMEM127):c.*2270dup
|
rs886056437
|
|
NM_017849.4(TMEM127):c.*2411C>A
|
rs1158489118
|
|
NM_017849.4(TMEM127):c.*249G>A
|
rs886056446
|
|
NM_017849.4(TMEM127):c.*2548T>C
|
rs886056434
|
|
NM_017849.4(TMEM127):c.*2642C>T
|
rs886056433
|
|
NM_017849.4(TMEM127):c.*2684C>G
|
rs1684078512
|
|
NM_017849.4(TMEM127):c.*2717C>G
|
rs886056432
|
|
NM_017849.4(TMEM127):c.*2860A>G
|
rs1289173127
|
|
NM_017849.4(TMEM127):c.*2888del
|
rs139762991
|
|
NM_017849.4(TMEM127):c.*3200GTT[2]
|
rs141956691
|
|
NM_017849.4(TMEM127):c.*3348G>C
|
rs886056429
|
|
NM_017849.4(TMEM127):c.*662G>A
|
rs886056445
|
|
NM_017849.4(TMEM127):c.*674dup
|
rs201871634
|
|
NM_017849.4(TMEM127):c.*760del
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*760dup
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*866C>T
|
rs926874804
|
|
NM_017849.4(TMEM127):c.*883C>G
|
rs886056443
|
|
NM_017849.4(TMEM127):c.*980G>C
|
rs77989183
|
|
NM_017849.4(TMEM127):c.-114C>T
|
rs1684402630
|
|
NM_017849.4(TMEM127):c.-131-7C>T
|
rs886056450
|
|
NM_017849.4(TMEM127):c.-18C>T
|
rs121908813
|
|
NM_017849.4(TMEM127):c.-37A>G
|
rs886056449
|
|
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
|
|
|
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.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.667G>A (p.Glu223Lys)
|
rs779910556
|
|
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_020975.6(RET):c.*1020G>T
|
rs886047004
|
|
NM_020975.6(RET):c.*1046G>C
|
rs143948954
|
|
NM_020975.6(RET):c.*1103C>T
|
rs886047005
|
|
NM_020975.6(RET):c.*1233T>C
|
rs886047007
|
|
NM_020975.6(RET):c.*1278del
|
rs886047008
|
|
NM_020975.6(RET):c.*1337A>T
|
rs886047009
|
|
NM_020975.6(RET):c.*1345G>T
|
rs886047010
|
|
NM_020975.6(RET):c.*159G>T
|
rs1838381962
|
|
NM_020975.6(RET):c.*1646T>G
|
rs886047011
|
|
NM_020975.6(RET):c.*1797T>C
|
rs886047013
|
|
NM_020975.6(RET):c.*1797T>G
|
rs886047013
|
|
NM_020975.6(RET):c.*180G>A
|
rs1838382247
|
|
NM_020975.6(RET):c.*1886T>G
|
rs1019095754
|
|
NM_020975.6(RET):c.*358G>T
|
rs886046991
|
|
NM_020975.6(RET):c.*368G>T
|
rs756051983
|
|
NM_020975.6(RET):c.*446A>G
|
rs886046992
|
|
NM_020975.6(RET):c.*453G>T
|
rs886046993
|
|
NM_020975.6(RET):c.*492G>C
|
rs568766449
|
|
NM_020975.6(RET):c.*499dup
|
rs201945709
|
|
NM_020975.6(RET):c.*500C>G
|
rs564665995
|
|
NM_020975.6(RET):c.*506G>T
|
rs886046995
|
|
NM_020975.6(RET):c.*509A>G
|
rs886046996
|
|
NM_020975.6(RET):c.*538G>T
|
rs886046997
|
|
NM_020975.6(RET):c.*553G>T
|
rs886046998
|
|
NM_020975.6(RET):c.*600delinsTT
|
rs1588882236
|
|
NM_020975.6(RET):c.*749dup
|
rs886047000
|
|
NM_020975.6(RET):c.*763C>T
|
rs886047001
|
|
NM_020975.6(RET):c.*883G>A
|
rs1838396430
|
|
NM_020975.6(RET):c.*935C>A
|
rs886047003
|
|
NM_020975.6(RET):c.-160G>T
|
rs567112195
|
|
NM_020975.6(RET):c.-173A>G
|
rs1359755826
|
|
NM_020975.6(RET):c.-187C>A
|
rs886046983
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1866C>T (p.Pro622=)
|
rs201979255
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)
|
rs138847998
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2580G>A (p.Gln860=)
|
rs886046988
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.487C>A (p.Arg163=)
|
rs371153966
|
|
NM_020975.6(RET):c.566G>A (p.Arg189His)
|
rs753707182
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
Single allele
|
|
|