NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_020975.6(RET):c.868-18G>A
|
rs57098408
|
0.01028
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000075.4(CDK4):c.696G>A (p.Leu232=)
|
rs2227953
|
0.00692
|
NM_000075.4(CDK4):c.447A>G (p.Thr149=)
|
rs2069501
|
0.00690
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
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_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
|
rs144657355
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000075.4(CDK4):c.306A>G (p.Thr102=)
|
rs201202764
|
0.00019
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_000075.4(CDK4):c.684-4A>T
|
rs370609910
|
0.00016
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
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_000075.4(CDK4):c.771G>A (p.Val257=)
|
rs377612647
|
0.00014
|
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)
|
rs774296730
|
0.00014
|
NM_020975.6(RET):c.1017G>A (p.Ser339=)
|
rs369810881
|
0.00014
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000075.4(CDK4):c.834T>C (p.Phe278=)
|
rs115576923
|
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_020975.6(RET):c.1893C>T (p.Asp631=)
|
rs55846256
|
0.00013
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_000075.4(CDK4):c.813G>A (p.Leu271=)
|
rs1487727732
|
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_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_001370259.2(MEN1):c.492C>T (p.Ala164=)
|
rs146759807
|
0.00010
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
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_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.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
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_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)
|
rs778728934
|
0.00007
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_000075.4(CDK4):c.702A>C (p.Pro234=)
|
rs368081942
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
0.00006
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
NM_020975.6(RET):c.2409C>T (p.Ile803=)
|
rs535051804
|
0.00006
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_020975.6(RET):c.2393-8G>A
|
rs376151644
|
0.00005
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370259.2(MEN1):c.784-10C>T
|
rs71526470
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_004168.4(SDHA):c.1432+7G>C
|
rs760526397
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.456+9C>T
|
rs200565489
|
0.00004
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_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.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_000075.4(CDK4):c.423G>C (p.Leu141=)
|
rs760242081
|
0.00003
|
NM_000075.4(CDK4):c.522+8G>A
|
rs758294834
|
0.00003
|
NM_000075.4(CDK4):c.549C>T (p.Pro183=)
|
rs778696237
|
0.00003
|
NM_000075.4(CDK4):c.753C>G (p.Pro251=)
|
rs757333818
|
0.00003
|
NM_000075.4(CDK4):c.84T>C (p.Ser28=)
|
rs763203404
|
0.00003
|
NM_000075.4(CDK4):c.870G>C (p.Leu290=)
|
rs1299338481
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
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.1760-12G>A
|
rs377767392
|
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.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
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.2452G>A (p.Glu818Lys)
|
rs377767420
|
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_000075.4(CDK4):c.178C>T (p.Leu60=)
|
rs1595110993
|
0.00002
|
NM_000075.4(CDK4):c.183G>A (p.Arg61=)
|
rs771902016
|
0.00002
|
NM_000075.4(CDK4):c.279T>C (p.Phe93=)
|
rs1478574297
|
0.00002
|
NM_000075.4(CDK4):c.354+9G>T
|
rs771456729
|
0.00002
|
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys)
|
rs587778185
|
0.00002
|
NM_000075.4(CDK4):c.576A>C (p.Ala192=)
|
rs565563672
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000075.4(CDK4):c.683+7G>A
|
rs565689797
|
0.00002
|
NM_000075.4(CDK4):c.906G>A (p.Pro302=)
|
rs375309124
|
0.00002
|
NM_000075.4(CDK4):c.96G>C (p.Val32=)
|
rs563392051
|
0.00002
|
NM_001370259.2(MEN1):c.1350+6G>A
|
rs746077651
|
0.00002
|
NM_001370259.2(MEN1):c.784-16C>T
|
rs754257177
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)
|
rs377767422
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_000075.4(CDK4):c.141A>C (p.Gly47=)
|
rs863224320
|
0.00001
|
NM_000075.4(CDK4):c.195T>C (p.Ala65=)
|
rs770618992
|
0.00001
|
NM_000075.4(CDK4):c.210T>C (p.Asn70=)
|
rs1162061851
|
0.00001
|
NM_000075.4(CDK4):c.219-10C>T
|
rs759302811
|
0.00001
|
NM_000075.4(CDK4):c.219-5G>C
|
rs1286893141
|
0.00001
|
NM_000075.4(CDK4):c.219-7T>C
|
rs543798269
|
0.00001
|
NM_000075.4(CDK4):c.222G>A (p.Leu74=)
|
rs565645344
|
0.00001
|
NM_000075.4(CDK4):c.228C>T (p.Asp76=)
|
rs772531745
|
0.00001
|
NM_000075.4(CDK4):c.24A>C (p.Pro8=)
|
rs756789126
|
0.00001
|
NM_000075.4(CDK4):c.252C>T (p.Asp84=)
|
rs780590939
|
0.00001
|
NM_000075.4(CDK4):c.288A>G (p.Val96=)
|
rs754092304
|
0.00001
|
NM_000075.4(CDK4):c.309T>C (p.Tyr103=)
|
rs554603181
|
0.00001
|
NM_000075.4(CDK4):c.348G>A (p.Thr116=)
|
rs761353033
|
0.00001
|
NM_000075.4(CDK4):c.355-12C>T
|
rs1004281478
|
0.00001
|
NM_000075.4(CDK4):c.355-3T>C
|
rs771392563
|
0.00001
|
NM_000075.4(CDK4):c.402T>C (p.Asn134=)
|
rs537039467
|
0.00001
|
NM_000075.4(CDK4):c.481C>T (p.Leu161=)
|
rs796860515
|
0.00001
|
NM_000075.4(CDK4):c.486C>G (p.Ala162=)
|
rs1595110441
|
0.00001
|
NM_000075.4(CDK4):c.501C>T (p.Tyr167=)
|
rs1316207187
|
0.00001
|
NM_000075.4(CDK4):c.504G>A (p.Gln168=)
|
rs770086242
|
0.00001
|
NM_000075.4(CDK4):c.519C>T (p.Pro173=)
|
rs747084709
|
0.00001
|
NM_000075.4(CDK4):c.523-11A>G
|
rs958372242
|
0.00001
|
NM_000075.4(CDK4):c.523-16T>C
|
rs368524338
|
0.00001
|
NM_000075.4(CDK4):c.534C>T (p.Leu178=)
|
rs11547327
|
0.00001
|
NM_000075.4(CDK4):c.543A>C (p.Arg181=)
|
rs745772539
|
0.00001
|
NM_000075.4(CDK4):c.597T>C (p.Ser199=)
|
rs1260582581
|
0.00001
|
NM_000075.4(CDK4):c.60G>A (p.Val20=)
|
rs1595111186
|
0.00001
|
NM_000075.4(CDK4):c.632+8A>G
|
rs1269709231
|
0.00001
|
NM_000075.4(CDK4):c.632+9C>T
|
rs1192976748
|
0.00001
|
NM_000075.4(CDK4):c.645T>C (p.Cys215=)
|
rs751861614
|
0.00001
|
NM_000075.4(CDK4):c.654T>C (p.Ser218=)
|
rs766518915
|
0.00001
|
NM_000075.4(CDK4):c.660C>T (p.Ala220=)
|
rs773490152
|
0.00001
|
NM_000075.4(CDK4):c.663C>T (p.Asp221=)
|
rs1205343806
|
0.00001
|
NM_000075.4(CDK4):c.684-10dup
|
rs757684130
|
0.00001
|
NM_000075.4(CDK4):c.684-14C>T
|
rs750471090
|
0.00001
|
NM_000075.4(CDK4):c.684-5C>T
|
rs765361338
|
0.00001
|
NM_000075.4(CDK4):c.777G>A (p.Ser259=)
|
rs3211622
|
0.00001
|
NM_000075.4(CDK4):c.795G>A (p.Glu265=)
|
rs747521511
|
0.00001
|
NM_000075.4(CDK4):c.798G>A (p.Glu266=)
|
rs780522588
|
0.00001
|
NM_000075.4(CDK4):c.801G>A (p.Ser267=)
|
rs201744062
|
0.00001
|
NM_000075.4(CDK4):c.820-4T>C
|
rs750073768
|
0.00001
|
NM_000075.4(CDK4):c.843C>T (p.His281=)
|
rs750061873
|
0.00001
|
NM_000075.4(CDK4):c.846G>A (p.Lys282=)
|
rs1248502310
|
0.00001
|
NM_000075.4(CDK4):c.864A>T (p.Arg288=)
|
rs1369349270
|
0.00001
|
NM_000075.4(CDK4):c.87C>T (p.Gly29=)
|
rs1555201376
|
0.00001
|
NM_000075.4(CDK4):c.882T>C (p.Tyr294=)
|
rs1307304019
|
0.00001
|
NM_001370259.2(MEN1):c.1186-6G>A
|
rs576193460
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.913-8C>T
|
rs373893527
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
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.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
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.405+1G>T
|
rs587776653
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)
|
rs144981275
|
0.00001
|
NM_020975.6(RET):c.1052T>A (p.Val351Glu)
|
rs749449032
|
0.00001
|
NM_020975.6(RET):c.1574G>A (p.Arg525Gln)
|
rs752830820
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1760-3C>T
|
rs587781734
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)
|
rs1352006130
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
NM_020975.6(RET):c.2758A>G (p.Ile920Val)
|
rs527787676
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.884C>T (p.Thr295Met)
|
rs758159521
|
0.00001
|
NM_000075.4(CDK4):c.*10T>A
|
|
|
NM_000075.4(CDK4):c.*2C>A
|
|
|
NM_000075.4(CDK4):c.*6G>A
|
|
|
NM_000075.4(CDK4):c.*9G>A
|
|
|
NM_000075.4(CDK4):c.102C>A (p.Leu34=)
|
|
|
NM_000075.4(CDK4):c.108T>C (p.Ser36=)
|
|
|
NM_000075.4(CDK4):c.111G>A (p.Val37=)
|
rs1456215691
|
|
NM_000075.4(CDK4):c.117C>A (p.Val39=)
|
rs1595111112
|
|
NM_000075.4(CDK4):c.117C>T (p.Val39=)
|
rs1595111112
|
|
NM_000075.4(CDK4):c.123T>C (p.Asn41=)
|
|
|
NM_000075.4(CDK4):c.126A>C (p.Gly42=)
|
|
|
NM_000075.4(CDK4):c.126A>G (p.Gly42=)
|
|
|
NM_000075.4(CDK4):c.12T>C (p.Ser4=)
|
rs1595111261
|
|
NM_000075.4(CDK4):c.132A>T (p.Gly44=)
|
rs878853621
|
|
NM_000075.4(CDK4):c.135T>C (p.Gly45=)
|
|
|
NM_000075.4(CDK4):c.13C>A (p.Arg5=)
|
|
|
NM_000075.4(CDK4):c.144C>A (p.Gly48=)
|
|
|
NM_000075.4(CDK4):c.144C>T (p.Gly48=)
|
|
|
NM_000075.4(CDK4):c.147T>C (p.Leu49=)
|
rs1060504383
|
|
NM_000075.4(CDK4):c.147T>G (p.Leu49=)
|
|
|
NM_000075.4(CDK4):c.153C>T (p.Ile51=)
|
rs1555201373
|
|
NM_000075.4(CDK4):c.159A>G (p.Thr53=)
|
|
|
NM_000075.4(CDK4):c.15A>C (p.Arg5=)
|
|
|
NM_000075.4(CDK4):c.165T>G (p.Arg55=)
|
rs1595111002
|
|
NM_000075.4(CDK4):c.171G>A (p.Val57=)
|
|
|
NM_000075.4(CDK4):c.177A>G (p.Leu59=)
|
|
|
NM_000075.4(CDK4):c.180G>A (p.Leu60=)
|
rs1555201367
|
|
NM_000075.4(CDK4):c.186A>C (p.Arg62=)
|
|
|
NM_000075.4(CDK4):c.189G>A (p.Leu63=)
|
rs2140388192
|
|
NM_000075.4(CDK4):c.198T>C (p.Phe66=)
|
rs1595110954
|
|
NM_000075.4(CDK4):c.207C>T (p.Pro69=)
|
|
|
NM_000075.4(CDK4):c.216C>A (p.Val72=)
|
rs1294424179
|
|
NM_000075.4(CDK4):c.218+8G>T
|
|
|
NM_000075.4(CDK4):c.218+9G>A
|
|
|
NM_000075.4(CDK4):c.219-11A>G
|
|
|
NM_000075.4(CDK4):c.219-11A>T
|
|
|
NM_000075.4(CDK4):c.219-17G>A
|
rs767249235
|
|
NM_000075.4(CDK4):c.219-17G>C
|
rs767249235
|
|
NM_000075.4(CDK4):c.219-17_219-16delinsAT
|
|
|
NM_000075.4(CDK4):c.219-18A>T
|
|
|
NM_000075.4(CDK4):c.219-20T>C
|
|
|
NM_000075.4(CDK4):c.219-6G>T
|
|
|
NM_000075.4(CDK4):c.220C>T (p.Leu74=)
|
|
|
NM_000075.4(CDK4):c.222G>T (p.Leu74=)
|
rs565645344
|
|
NM_000075.4(CDK4):c.246A>C (p.Arg82=)
|
rs2140387517
|
|
NM_000075.4(CDK4):c.249T>C (p.Thr83=)
|
|
|
NM_000075.4(CDK4):c.24A>G (p.Pro8=)
|
|
|
NM_000075.4(CDK4):c.255G>A (p.Arg85=)
|
|
|
NM_000075.4(CDK4):c.255G>C (p.Arg85=)
|
|
|
NM_000075.4(CDK4):c.258G>A (p.Glu86=)
|
rs1247612368
|
|
NM_000075.4(CDK4):c.261C>A (p.Ile87=)
|
rs779482890
|
|
NM_000075.4(CDK4):c.261C>T (p.Ile87=)
|
rs779482890
|
|
NM_000075.4(CDK4):c.264G>A (p.Lys88=)
|
rs2140387452
|
|
NM_000075.4(CDK4):c.267A>G (p.Val89=)
|
rs886049715
|
|
NM_000075.4(CDK4):c.270C>A (p.Thr90=)
|
|
|
NM_000075.4(CDK4):c.271C>T (p.Leu91=)
|
rs949558438
|
|
NM_000075.4(CDK4):c.276G>A (p.Val92=)
|
rs918094121
|
|
NM_000075.4(CDK4):c.276G>T (p.Val92=)
|
|
|
NM_000075.4(CDK4):c.282G>A (p.Glu94=)
|
|
|
NM_000075.4(CDK4):c.285T>C (p.His95=)
|
rs757492324
|
|
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
|
|
|
NM_000075.4(CDK4):c.300A>G (p.Leu100=)
|
rs2140387344
|
|
NM_000075.4(CDK4):c.303G>A (p.Arg101=)
|
|
|
NM_000075.4(CDK4):c.306A>C (p.Thr102=)
|
rs201202764
|
|
NM_000075.4(CDK4):c.312G>A (p.Leu104=)
|
rs2140387313
|
|
NM_000075.4(CDK4):c.324C>G (p.Pro108=)
|
rs774075369
|
|
NM_000075.4(CDK4):c.333C>A (p.Gly111=)
|
rs1595110689
|
|
NM_000075.4(CDK4):c.334T>C (p.Leu112=)
|
rs1555201318
|
|
NM_000075.4(CDK4):c.342C>G (p.Ala114=)
|
rs762471901
|
|
NM_000075.4(CDK4):c.342C>T (p.Ala114=)
|
rs762471901
|
|
NM_000075.4(CDK4):c.348G>T (p.Thr116=)
|
|
|
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
|
|
|
NM_000075.4(CDK4):c.351C>T (p.Ile117=)
|
|
|
NM_000075.4(CDK4):c.354+10G>A
|
rs1955232744
|
|
NM_000075.4(CDK4):c.354+10G>C
|
|
|
NM_000075.4(CDK4):c.354+3G>A
|
rs746395249
|
|
NM_000075.4(CDK4):c.354+9G>C
|
rs771456729
|
|
NM_000075.4(CDK4):c.355-10T>C
|
rs1595110574
|
|
NM_000075.4(CDK4):c.355-14C>T
|
|
|
NM_000075.4(CDK4):c.355-17C>T
|
|
|
NM_000075.4(CDK4):c.355-18C>T
|
|
|
NM_000075.4(CDK4):c.355-7A>C
|
|
|
NM_000075.4(CDK4):c.366C>A (p.Arg122=)
|
|
|
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
|
|
|
NM_000075.4(CDK4):c.375A>G (p.Leu125=)
|
rs2640603
|
|
NM_000075.4(CDK4):c.378A>G (p.Arg126=)
|
|
|
NM_000075.4(CDK4):c.381C>T (p.Gly127=)
|
rs781207390
|
|
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
|
|
|
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
|
|
|
NM_000075.4(CDK4):c.393T>A (p.Leu131=)
|
|
|
NM_000075.4(CDK4):c.405C>T (p.Cys135=)
|
|
|
NM_000075.4(CDK4):c.408C>T (p.Ile136=)
|
rs758331285
|
|
NM_000075.4(CDK4):c.420T>C (p.Asp140=)
|
rs863224321
|
|
NM_000075.4(CDK4):c.423G>A (p.Leu141=)
|
rs760242081
|
|
NM_000075.4(CDK4):c.42C>G (p.Val14=)
|
|
|
NM_000075.4(CDK4):c.42C>T (p.Val14=)
|
rs786203182
|
|
NM_000075.4(CDK4):c.444G>A (p.Val148=)
|
rs1595110484
|
|
NM_000075.4(CDK4):c.444G>T (p.Val148=)
|
rs1595110484
|
|
NM_000075.4(CDK4):c.453T>C (p.Gly151=)
|
rs2140386487
|
|
NM_000075.4(CDK4):c.462C>G (p.Val154=)
|
rs1190412756
|
|
NM_000075.4(CDK4):c.466C>T (p.Leu156=)
|
|
|
NM_000075.4(CDK4):c.468G>A (p.Leu156=)
|
|
|
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
|
|
|
NM_000075.4(CDK4):c.48C>G (p.Ala16=)
|
rs1311074831
|
|
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
|
|
|
NM_000075.4(CDK4):c.492C>T (p.Ile164=)
|
|
|
NM_000075.4(CDK4):c.498C>T (p.Ser166=)
|
|
|
NM_000075.4(CDK4):c.513T>C (p.Leu171=)
|
rs748319770
|
|
NM_000075.4(CDK4):c.519C>A (p.Pro173=)
|
|
|
NM_000075.4(CDK4):c.522+10_522+13del
|
|
|
NM_000075.4(CDK4):c.522+7A>G
|
rs1294665075
|
|
NM_000075.4(CDK4):c.522+8del
|
|
|
NM_000075.4(CDK4):c.522+9A>C
|
rs2140386258
|
|
NM_000075.4(CDK4):c.523-13C>T
|
|
|
NM_000075.4(CDK4):c.523-17C>T
|
|
|
NM_000075.4(CDK4):c.523-19T>C
|
|
|
NM_000075.4(CDK4):c.523-20A>C
|
|
|
NM_000075.4(CDK4):c.523-20A>G
|
|
|
NM_000075.4(CDK4):c.523-20A>T
|
rs1595110299
|
|
NM_000075.4(CDK4):c.523-6C>T
|
|
|
NM_000075.4(CDK4):c.523-7C>T
|
rs2140385923
|
|
NM_000075.4(CDK4):c.523-8C>T
|
|
|
NM_000075.4(CDK4):c.528T>C (p.Val176=)
|
|
|
NM_000075.4(CDK4):c.531A>G (p.Thr177=)
|
rs2140385880
|
|
NM_000075.4(CDK4):c.534C>G (p.Leu178=)
|
rs11547327
|
|
NM_000075.4(CDK4):c.540C>T (p.Tyr180=)
|
|
|
NM_000075.4(CDK4):c.549C>G (p.Pro183=)
|
rs778696237
|
|
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
|
|
|
NM_000075.4(CDK4):c.54G>C (p.Gly18=)
|
|
|
NM_000075.4(CDK4):c.54G>T (p.Gly18=)
|
|
|
NM_000075.4(CDK4):c.555T>A (p.Val185=)
|
|
|
NM_000075.4(CDK4):c.561G>T (p.Leu187=)
|
rs864622342
|
|
NM_000075.4(CDK4):c.564G>A (p.Gln188=)
|
rs1057521685
|
|
NM_000075.4(CDK4):c.567C>T (p.Ser189=)
|
rs144422354
|
|
NM_000075.4(CDK4):c.570A>C (p.Thr190=)
|
rs1428628208
|
|
NM_000075.4(CDK4):c.570A>G (p.Thr190=)
|
|
|
NM_000075.4(CDK4):c.570A>T (p.Thr190=)
|
|
|
NM_000075.4(CDK4):c.573T>C (p.Tyr191=)
|
rs878853623
|
|
NM_000075.4(CDK4):c.588C>T (p.Asp196=)
|
rs2140385708
|
|
NM_000075.4(CDK4):c.600T>C (p.Val200=)
|
|
|
NM_000075.4(CDK4):c.603C>G (p.Gly201=)
|
rs2140385667
|
|
NM_000075.4(CDK4):c.603C>T (p.Gly201=)
|
|
|
NM_000075.4(CDK4):c.606T>C (p.Cys202=)
|
|
|
NM_000075.4(CDK4):c.609C>A (p.Ile203=)
|
rs864622504
|
|
NM_000075.4(CDK4):c.612T>C (p.Phe204=)
|
rs1555201266
|
|
NM_000075.4(CDK4):c.630A>C (p.Arg210=)
|
rs1012477745
|
|
NM_000075.4(CDK4):c.630A>G (p.Arg210=)
|
rs1012477745
|
|
NM_000075.4(CDK4):c.632+4T>A
|
rs1397979744
|
|
NM_000075.4(CDK4):c.632+5dup
|
rs1555201260
|
|
NM_000075.4(CDK4):c.632+7G>A
|
rs1955225535
|
|
NM_000075.4(CDK4):c.632+7del
|
|
|
NM_000075.4(CDK4):c.633-10C>T
|
|
|
NM_000075.4(CDK4):c.633-13C>T
|
|
|
NM_000075.4(CDK4):c.633-14C>T
|
|
|
NM_000075.4(CDK4):c.633-18T>C
|
rs2140384054
|
|
NM_000075.4(CDK4):c.633-20T>C
|
|
|
NM_000075.4(CDK4):c.633-5C>T
|
|
|
NM_000075.4(CDK4):c.633-6C>T
|
rs2140384011
|
|
NM_000075.4(CDK4):c.633-8C>T
|
rs536249985
|
|
NM_000075.4(CDK4):c.636T>A (p.Pro212=)
|
|
|
NM_000075.4(CDK4):c.639C>A (p.Leu213=)
|
rs2140383965
|
|
NM_000075.4(CDK4):c.639C>G (p.Leu213=)
|
|
|
NM_000075.4(CDK4):c.639C>T (p.Leu213=)
|
rs2140383965
|
|
NM_000075.4(CDK4):c.63C>T (p.Tyr21=)
|
|
|
NM_000075.4(CDK4):c.648A>C (p.Gly216=)
|
rs2140383924
|
|
NM_000075.4(CDK4):c.651C>T (p.Asn217=)
|
rs876659462
|
|
NM_000075.4(CDK4):c.666G>A (p.Gln222=)
|
rs1324120646
|
|
NM_000075.4(CDK4):c.667T>C (p.Leu223=)
|
rs2140383860
|
|
NM_000075.4(CDK4):c.669G>A (p.Leu223=)
|
|
|
NM_000075.4(CDK4):c.672C>A (p.Gly224=)
|
|
|
NM_000075.4(CDK4):c.683+8A>T
|
rs1446831422
|
|
NM_000075.4(CDK4):c.683+8del
|
rs2140383751
|
|
NM_000075.4(CDK4):c.684-11G>A
|
|
|
NM_000075.4(CDK4):c.684-12T>C
|
|
|
NM_000075.4(CDK4):c.684-17T>C
|
|
|
NM_000075.4(CDK4):c.684-19G>C
|
|
|
NM_000075.4(CDK4):c.684-20A>C
|
|
|
NM_000075.4(CDK4):c.684-20_684-19del
|
|
|
NM_000075.4(CDK4):c.684-4A>G
|
rs370609910
|
|
NM_000075.4(CDK4):c.684-7C>T
|
rs1955203177
|
|
NM_000075.4(CDK4):c.684-8C>T
|
rs2140383220
|
|
NM_000075.4(CDK4):c.690T>A (p.Ile230=)
|
|
|
NM_000075.4(CDK4):c.690T>C (p.Ile230=)
|
rs886049714
|
|
NM_000075.4(CDK4):c.693G>C (p.Gly231=)
|
|
|
NM_000075.4(CDK4):c.69C>T (p.Ala23=)
|
|
|
NM_000075.4(CDK4):c.705G>A (p.Glu235=)
|
rs374223296
|
|
NM_000075.4(CDK4):c.718C>A (p.Arg240=)
|
rs786203856
|
|
NM_000075.4(CDK4):c.726A>T (p.Val242=)
|
|
|
NM_000075.4(CDK4):c.729C>T (p.Ser243=)
|
|
|
NM_000075.4(CDK4):c.730C>T (p.Leu244=)
|
rs2140382971
|
|
NM_000075.4(CDK4):c.741A>G (p.Gly247=)
|
rs1595108773
|
|
NM_000075.4(CDK4):c.744C>G (p.Ala248=)
|
rs1595108768
|
|
NM_000075.4(CDK4):c.744C>T (p.Ala248=)
|
rs1595108768
|
|
NM_000075.4(CDK4):c.747T>C (p.Phe249=)
|
rs886049713
|
|
NM_000075.4(CDK4):c.753C>A (p.Pro251=)
|
rs757333818
|
|
NM_000075.4(CDK4):c.753C>T (p.Pro251=)
|
rs757333818
|
|
NM_000075.4(CDK4):c.759G>A (p.Gly253=)
|
|
|
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
|
|
|
NM_000075.4(CDK4):c.75T>C (p.Asp25=)
|
|
|
NM_000075.4(CDK4):c.762C>T (p.Pro254=)
|
rs753908111
|
|
NM_000075.4(CDK4):c.765C>G (p.Arg255=)
|
|
|
NM_000075.4(CDK4):c.768A>G (p.Pro256=)
|
|
|
NM_000075.4(CDK4):c.777G>C (p.Ser259=)
|
rs3211622
|
|
NM_000075.4(CDK4):c.780G>A (p.Val260=)
|
rs1955200396
|
|
NM_000075.4(CDK4):c.780G>T (p.Val260=)
|
|
|
NM_000075.4(CDK4):c.783A>T (p.Val261=)
|
|
|
NM_000075.4(CDK4):c.786T>C (p.Pro262=)
|
|
|
NM_000075.4(CDK4):c.786T>G (p.Pro262=)
|
|
|
NM_000075.4(CDK4):c.78C>T (p.Pro26=)
|
rs1057523487
|
|
NM_000075.4(CDK4):c.801G>C (p.Ser267=)
|
rs201744062
|
|
NM_000075.4(CDK4):c.807A>G (p.Ala269=)
|
|
|
NM_000075.4(CDK4):c.811C>T (p.Leu271=)
|
|
|
NM_000075.4(CDK4):c.816G>A (p.Leu272=)
|
|
|
NM_000075.4(CDK4):c.819+7G>A
|
|
|
NM_000075.4(CDK4):c.819+7del
|
rs1217545832
|
|
NM_000075.4(CDK4):c.819+8A>T
|
|
|
NM_000075.4(CDK4):c.81C>T (p.His27=)
|
|
|
NM_000075.4(CDK4):c.820-12C>T
|
|
|
NM_000075.4(CDK4):c.820-14G>A
|
|
|
NM_000075.4(CDK4):c.820-17T>C
|
|
|
NM_000075.4(CDK4):c.820-19C>T
|
|
|
NM_000075.4(CDK4):c.820-20A>T
|
|
|
NM_000075.4(CDK4):c.820-6C>T
|
|
|
NM_000075.4(CDK4):c.820-7C>T
|
|
|
NM_000075.4(CDK4):c.820-7_820-6insG
|
|
|
NM_000075.4(CDK4):c.820-8C>T
|
|
|
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
|
|
|
NM_000075.4(CDK4):c.831T>C (p.Thr277=)
|
|
|
NM_000075.4(CDK4):c.837C>T (p.Asn279=)
|
|
|
NM_000075.4(CDK4):c.840A>T (p.Pro280=)
|
|
|
NM_000075.4(CDK4):c.849A>G (p.Arg283=)
|
rs1595107798
|
|
NM_000075.4(CDK4):c.852C>A (p.Ile284=)
|
|
|
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
|
|
|
NM_000075.4(CDK4):c.862C>A (p.Arg288=)
|
|
|
NM_000075.4(CDK4):c.867T>C (p.Ala289=)
|
|
|
NM_000075.4(CDK4):c.868C>T (p.Leu290=)
|
rs1555201026
|
|
NM_000075.4(CDK4):c.870G>T (p.Leu290=)
|
rs1299338481
|
|
NM_000075.4(CDK4):c.876C>T (p.His292=)
|
rs1595107737
|
|
NM_000075.4(CDK4):c.879T>C (p.Ser293=)
|
|
|
NM_000075.4(CDK4):c.87C>G (p.Gly29=)
|
rs1555201376
|
|
NM_000075.4(CDK4):c.900T>C (p.Gly300=)
|
|
|
NM_000075.4(CDK4):c.900T>G (p.Gly300=)
|
|
|
NM_000075.4(CDK4):c.906G>C (p.Pro302=)
|
rs375309124
|
|
NM_000075.4(CDK4):c.911G>A (p.Ter304=)
|
|
|
NM_000075.4(CDK4):c.93T>C (p.Phe31=)
|
|
|
NM_000075.4(CDK4):c.96G>A (p.Val32=)
|
|
|
NM_000075.4(CDK4):c.99C>T (p.Ala33=)
|
|
|
NM_000075.4(CDK4):c.9C>G (p.Thr3=)
|
|
|
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
|
|
|
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)
|
rs1592637081
|
|
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.1350+3G>A
|
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)
|
rs2136089217
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.416del (p.His139fs)
|
|
|
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
|
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)
|
rs1057521110
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
|
|
|
NM_001370259.2(MEN1):c.824+2T>C
|
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
|
|
|
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.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.375_376delinsGT (p.Lys126Ter)
|
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)
|
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.643-1G>A
|
rs1553177292
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
|
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
|
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.118dup (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
NM_003001.5(SDHC):c.204dup (p.Ile69fs)
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.226dup (p.Ile76fs)
|
|
|
NM_003001.5(SDHC):c.242-2_242-1insT
|
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.49del (p.His17fs)
|
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)
|
rs1566690018
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
|
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)
|
|
|
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
|
|
|
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)
|
|
|
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
|
|
|
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
|
|
|
NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)
|
|
|
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
|
|
|
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
|
|
|
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
|
|
|
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)
|
|
|
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
|
|
|
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
|
|
|
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
|
|
|
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
|
|
|
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
|
|
|
NM_003640.5(ELP1):c.2677del (p.His893fs)
|
|
|
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)
|
|
|
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
|
|
|
NM_003640.5(ELP1):c.2779del (p.Met927fs)
|
|
|
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
|
|
|
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)
|
|
|
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)
|
|
|
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
|
|
|
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
|
|
|
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
|
|
|
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
|
|
|
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
|
|
|
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)
|
|
|
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
|
|
|
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_003640.5(ELP1):c.3510del (p.Ser1170fs)
|
|
|
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)
|
|
|
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
|
|
|
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
|
|
|
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
|
|
|
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
|
|
|
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
|
|
|
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)
|
|
|
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)
|
|
|
NM_003640.5(ELP1):c.574del (p.Asp192fs)
|
|
|
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
|
|
|
NM_003640.5(ELP1):c.812del (p.Asn271fs)
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)
|
|
|
NM_004168.4(SDHA):c.-28_-20dup
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
|
NM_004168.4(SDHA):c.1192del (p.Glu398fs)
|
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1257del (p.Gln420fs)
|
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1260+1G>T
|
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1367C>A (p.Ser456Ter)
|
|
|
NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter)
|
|
|
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+2T>G
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
|
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1551+1G>C
|
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1586del (p.Gly529fs)
|
|
|
NM_004168.4(SDHA):c.1608del (p.Cys536fs)
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1663G>T (p.Gly555Ter)
|
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
|
|
|
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)
|
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
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.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
|
|
|
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.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
|
|
|
NM_004168.4(SDHA):c.596_599del (p.Ser199fs)
|
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
|
|
|
NM_004168.4(SDHA):c.649dup (p.Val217fs)
|
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
|
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)
|
|
|
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004168.4(SDHA):c.99dup (p.His34fs)
|
|
|
NM_004168.4(SDHA):c.9_10dup (p.Val4fs)
|
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1538C>T (p.Ala513Val)
|
rs149238501
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1777G>A (p.Gly593Arg)
|
rs878855059
|
|
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.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
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.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)
|
rs377767405
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)
|
rs377767440
|
|
NM_020975.6(RET):c.2030G>A (p.Arg677Gln)
|
rs536038262
|
|
NM_020975.6(RET):c.2111T>A (p.Val704Asp)
|
|
|
NM_020975.6(RET):c.2285-16C>T
|
rs781027098
|
|
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
|
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2393-14C>G
|
rs144269978
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
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.2492G>T (p.Gly831Val)
|
rs760924186
|
|
NM_020975.6(RET):c.2523G>A (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2531G>T (p.Arg844Leu)
|
rs55947360
|
|
NM_020975.6(RET):c.2543T>A (p.Met848Lys)
|
rs201101792
|
|
NM_020975.6(RET):c.2554A>G (p.Ile852Val)
|
rs561276725
|
|
NM_020975.6(RET):c.2608-8C>T
|
|
|
NM_020975.6(RET):c.2641C>G (p.Leu881Val)
|
rs377767427
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|