NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_003001.5(SDHC):c.*397G>A
|
rs74124906
|
0.00189
|
NM_003001.5(SDHC):c.*518G>A
|
rs375109418
|
0.00189
|
NM_003002.4(SDHD):c.*369A>G
|
rs200753024
|
0.00157
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_003001.4(SDHC):c.*1098T>C
|
rs569588829
|
0.00094
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
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.*1430A>G
|
rs775114955
|
0.00053
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_000435.3(NOTCH3):c.*306C>T
|
rs181930934
|
0.00036
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_017849.4(TMEM127):c.*612C>T
|
rs549115489
|
0.00024
|
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
|
rs202038275
|
0.00023
|
NM_002382.5(MAX):c.-80G>A
|
rs886050634
|
0.00022
|
NM_153490.3(KRT13):c.*228C>G
|
rs574184263
|
0.00022
|
NM_017849.4(TMEM127):c.*3396G>A
|
rs762419401
|
0.00020
|
NM_002382.5(MAX):c.*873T>C
|
rs183467855
|
0.00019
|
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
|
rs148853962
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_002609.4(PDGFRB):c.2023+5C>T
|
rs369842668
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
NM_002382.5(MAX):c.*1276G>C
|
rs748335228
|
0.00013
|
NM_002382.5(MAX):c.*503T>G
|
rs886050633
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_017849.4(TMEM127):c.*1178A>G
|
rs748572058
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_002272.4(KRT4):c.*289G>A
|
rs886049639
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_002609.4(PDGFRB):c.2464-3C>T
|
rs571983343
|
0.00009
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
NM_017849.4(TMEM127):c.*1638G>C
|
rs753339060
|
0.00009
|
NM_017849.4(TMEM127):c.*3134C>T
|
rs566067694
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)
|
rs771803651
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys)
|
rs367751022
|
0.00008
|
NM_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.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_002272.4(KRT4):c.364C>G (p.Leu122Val)
|
rs758695571
|
0.00007
|
NM_002382.5(MAX):c.25G>T (p.Val9Leu)
|
rs201743423
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
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_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
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_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_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_020975.6(RET):c.736C>A (p.His246Asn)
|
rs780756440
|
0.00006
|
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)
|
rs752627281
|
0.00006
|
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)
|
rs752995216
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
NM_017849.4(TMEM127):c.*1879G>A
|
rs766485637
|
0.00005
|
NM_017849.4(TMEM127):c.*2800T>G
|
rs1037492575
|
0.00005
|
NM_017849.4(TMEM127):c.*3271A>G
|
rs569110562
|
0.00005
|
NM_017849.4(TMEM127):c.-220T>C
|
rs886056452
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)
|
rs372191563
|
0.00005
|
NM_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
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.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_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)
|
rs748266278
|
0.00004
|
NM_001365951.3(KIF1B):c.2115+6545C>A
|
rs1299989581
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_002272.4(KRT4):c.405G>A (p.Thr135=)
|
rs762792489
|
0.00004
|
NM_002382.5(MAX):c.*942C>T
|
rs886050630
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_002609.4(PDGFRB):c.2463+4C>T
|
rs557338313
|
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.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
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_020975.6(RET):c.*1659T>C
|
rs886047012
|
0.00004
|
NM_020975.6(RET):c.*1900C>A
|
rs956882000
|
0.00004
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)
|
rs748799148
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
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.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
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_023110.3(FGFR1):c.2428C>T (p.His810Tyr)
|
rs759376422
|
0.00004
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
NM_153490.3(KRT13):c.759G>C (p.Gln253His)
|
rs766894151
|
0.00004
|
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)
|
rs745848425
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly)
|
rs753431318
|
0.00003
|
NM_002382.5(MAX):c.*170C>T
|
rs762709691
|
0.00003
|
NM_002382.5(MAX):c.-127G>A
|
rs886050637
|
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.544G>A (p.Gly182Arg)
|
rs201928318
|
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.38C>T (p.Ala13Val)
|
rs750080041
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_017849.4(TMEM127):c.*2503C>T
|
rs886056435
|
0.00003
|
NM_017849.4(TMEM127):c.*2563G>A
|
rs1483429634
|
0.00003
|
NM_017849.4(TMEM127):c.-242G>A
|
rs886056453
|
0.00003
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)
|
rs747333248
|
0.00003
|
NM_153490.3(KRT13):c.*175G>A
|
rs1459808765
|
0.00003
|
NM_153490.3(KRT13):c.1350C>T (p.Arg450=)
|
rs140142101
|
0.00003
|
NM_153490.3(KRT13):c.991C>T (p.Leu331=)
|
rs771435962
|
0.00003
|
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)
|
rs1256546303
|
0.00002
|
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)
|
rs764892330
|
0.00002
|
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)
|
rs770737365
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
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_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_002272.4(KRT4):c.*496T>G
|
rs753033796
|
0.00002
|
NM_002272.4(KRT4):c.193G>A (p.Val65Met)
|
rs754420448
|
0.00002
|
NM_002382.5(MAX):c.*1035C>T
|
rs1357628064
|
0.00002
|
NM_002382.5(MAX):c.*943G>A
|
rs111875569
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)
|
rs541926152
|
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.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
|
rs752689382
|
0.00002
|
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
|
rs753724042
|
0.00002
|
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp)
|
rs755584530
|
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.56T>C (p.Leu19Pro)
|
rs574698019
|
0.00002
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_017849.4(TMEM127):c.*1620C>T
|
rs886056440
|
0.00002
|
NM_017849.4(TMEM127):c.*2171C>T
|
rs555968113
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.410-6T>G
|
rs765971817
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.488G>A (p.Arg163Gln)
|
rs149403911
|
0.00002
|
NM_020975.6(RET):c.682G>C (p.Ala228Pro)
|
rs760813493
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)
|
rs777103792
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)
|
rs771680156
|
0.00002
|
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)
|
rs758677681
|
0.00002
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys)
|
rs1394162514
|
0.00002
|
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)
|
rs770029887
|
0.00001
|
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)
|
rs772276122
|
0.00001
|
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)
|
rs533866031
|
0.00001
|
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)
|
rs369232922
|
0.00001
|
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)
|
rs369758941
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)
|
rs766139231
|
0.00001
|
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)
|
rs770146452
|
0.00001
|
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
|
rs2046938247
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
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.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
NM_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)
|
rs1269940164
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001365951.3(KIF1B):c.2115+6476T>C
|
rs764466176
|
0.00001
|
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)
|
rs773852256
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)
|
rs1051917954
|
0.00001
|
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)
|
rs1011009249
|
0.00001
|
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
|
rs754479325
|
0.00001
|
NM_002272.4(KRT4):c.1347-3C>T
|
rs777376453
|
0.00001
|
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg)
|
rs771250577
|
0.00001
|
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn)
|
rs780754412
|
0.00001
|
NM_002272.4(KRT4):c.677+4C>T
|
rs886049642
|
0.00001
|
NM_002272.4(KRT4):c.678-10C>T
|
rs777722293
|
0.00001
|
NM_002382.5(MAX):c.*1285T>C
|
rs886050628
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys)
|
rs202179598
|
0.00001
|
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
|
rs1483057981
|
0.00001
|
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)
|
rs770027941
|
0.00001
|
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs)
|
rs771859820
|
0.00001
|
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met)
|
rs139554380
|
0.00001
|
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)
|
rs144050370
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)
|
rs753367645
|
0.00001
|
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)
|
rs267600485
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile)
|
rs370817438
|
0.00001
|
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)
|
rs1175765188
|
0.00001
|
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)
|
rs1580808180
|
0.00001
|
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser)
|
rs761286709
|
0.00001
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
0.00001
|
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)
|
rs745664191
|
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.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
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.343C>G (p.Arg115Gly)
|
rs751000085
|
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.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
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.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.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.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
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+6G>A
|
rs1326333007
|
0.00001
|
NM_003000.3(SDHB):c.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
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.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
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_003001.4(SDHC):c.*1481G>A
|
rs886045486
|
0.00001
|
NM_003001.4(SDHC):c.*1699A>G
|
rs886045490
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)
|
rs199901239
|
0.00001
|
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys)
|
rs756995021
|
0.00001
|
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg)
|
rs778202647
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.167A>C (p.His56Pro)
|
rs1555186817
|
0.00001
|
NM_003002.4(SDHD):c.180G>T (p.Lys60Asn)
|
rs750688879
|
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.230T>C (p.Leu77Pro)
|
rs777963699
|
0.00001
|
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
|
rs772671893
|
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.301C>T (p.Leu101Phe)
|
rs1165258369
|
0.00001
|
NM_003002.4(SDHD):c.310C>G (p.His104Asp)
|
rs779863605
|
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.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.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.5C>T (p.Ala2Val)
|
rs1440670464
|
0.00001
|
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)
|
rs776930864
|
0.00001
|
NM_003002.4(SDHD):c.88C>T (p.His30Tyr)
|
rs561759202
|
0.00001
|
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
|
rs1592778803
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_017849.4(TMEM127):c.*1784C>T
|
rs571939749
|
0.00001
|
NM_017849.4(TMEM127):c.*179C>T
|
rs932134479
|
0.00001
|
NM_017849.4(TMEM127):c.*1822T>C
|
rs144880727
|
0.00001
|
NM_017849.4(TMEM127):c.*2245A>G
|
rs886056438
|
0.00001
|
NM_017849.4(TMEM127):c.*2299C>T
|
rs896902158
|
0.00001
|
NM_017849.4(TMEM127):c.*2445G>T
|
rs886056436
|
0.00001
|
NM_017849.4(TMEM127):c.*2518C>A
|
rs1181236784
|
0.00001
|
NM_017849.4(TMEM127):c.*2760A>C
|
rs886056431
|
0.00001
|
NM_017849.4(TMEM127):c.*2911C>T
|
rs1461511429
|
0.00001
|
NM_017849.4(TMEM127):c.*3391G>A
|
rs1260000636
|
0.00001
|
NM_017849.4(TMEM127):c.*340G>A
|
rs1032246352
|
0.00001
|
NM_017849.4(TMEM127):c.*3568C>G
|
rs886056427
|
0.00001
|
NM_017849.4(TMEM127):c.-196C>T
|
rs886056451
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
0.00001
|
NM_017849.4(TMEM127):c.12C>T (p.Pro4=)
|
rs1406470818
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
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.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_020975.6(RET):c.*1112A>G
|
rs1353594500
|
0.00001
|
NM_020975.6(RET):c.*1533A>G
|
rs1838409564
|
0.00001
|
NM_020975.6(RET):c.*175C>G
|
rs886046990
|
0.00001
|
NM_020975.6(RET):c.-158G>A
|
rs886046984
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)
|
rs1394361948
|
0.00001
|
NM_020975.6(RET):c.1151C>G (p.Pro384Arg)
|
rs771679592
|
0.00001
|
NM_020975.6(RET):c.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
NM_020975.6(RET):c.1811C>T (p.Ala604Val)
|
rs1286776938
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.199C>T (p.Arg67Cys)
|
rs749390385
|
0.00001
|
NM_020975.6(RET):c.2005A>G (p.Ile669Val)
|
rs776986585
|
0.00001
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
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.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)
|
rs569004816
|
0.00001
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)
|
rs370756353
|
0.00001
|
NM_020975.6(RET):c.3184T>C (p.Tyr1062His)
|
rs138010639
|
0.00001
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
NM_020975.6(RET):c.432C>T (p.Arg144=)
|
rs756999107
|
0.00001
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
NM_020975.6(RET):c.59C>A (p.Pro20Gln)
|
rs1837067697
|
0.00001
|
NM_020975.6(RET):c.602G>C (p.Ser201Thr)
|
rs898525501
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
NM_023110.3(FGFR1):c.*112C>T
|
rs1189535138
|
0.00001
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
|
rs1034848904
|
0.00001
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)
|
rs780153672
|
0.00001
|
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)
|
rs515726222
|
0.00001
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_153490.3(KRT13):c.*74A>C
|
rs886052907
|
0.00001
|
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn)
|
rs1265435884
|
0.00001
|
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn)
|
rs886052908
|
0.00001
|
NM_153490.3(KRT13):c.496-9A>G
|
rs780820686
|
0.00001
|
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr)
|
rs767618537
|
0.00001
|
46;X;inv(X)(q26q28)dn
|
|
|
46;XY;t(1;4)(q32;q11)
|
|
|
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
|
|
|
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)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000005.9:g.(?_149503793)_(149516630_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111957547)_(111959745_?)dup
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)dup
|
|
|
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)
|
rs1448029825
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val)
|
rs933640981
|
|
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)
|
rs1554820262
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu)
|
rs1405393607
|
|
NM_000435.3(NOTCH3):c.5114+11T>G
|
rs2046721049
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.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.508G>A (p.Val170Ile)
|
rs1553620326
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)
|
rs1554710890
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)
|
rs1727604042
|
|
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)
|
rs2150159210
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[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.*454CT[1]
|
rs886044993
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
NM_001365951.3(KIF1B):c.2115+6012C>G
|
|
|
NM_001365951.3(KIF1B):c.2115+7115C>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7270G>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7343G>A
|
|
|
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)
|
rs2102315795
|
|
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
|
|
|
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
|
rs794727100
|
|
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
|
|
|
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
|
|
|
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
|
|
|
NM_002272.4(KRT4):c.*126C>A
|
rs886049640
|
|
NM_002272.4(KRT4):c.*405G>A
|
rs886049638
|
|
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val)
|
rs1939839883
|
|
NM_002272.4(KRT4):c.1467C>A (p.Gly489=)
|
rs1345230715
|
|
NM_002272.4(KRT4):c.186C>T (p.Ser62=)
|
rs886049645
|
|
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly)
|
rs886049646
|
|
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp)
|
rs886049644
|
|
NM_002272.4(KRT4):c.463-9T>C
|
rs886049643
|
|
NM_002272.4(KRT4):c.54C>G (p.Gly18=)
|
rs748727199
|
|
NM_002272.4(KRT4):c.726G>A (p.Val242=)
|
rs886049641
|
|
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu)
|
rs369593094
|
|
NM_002272.4(KRT4):c.834+2T>G
|
rs937464890
|
|
NM_002382.5(MAX):c.*1023C>T
|
rs886050629
|
|
NM_002382.5(MAX):c.*169T>C
|
rs567680521
|
|
NM_002382.5(MAX):c.*608CA[1]
|
rs886050631
|
|
NM_002382.5(MAX):c.*678C>T
|
rs934021031
|
|
NM_002382.5(MAX):c.*96C>G
|
rs949792280
|
|
NM_002382.5(MAX):c.-110A>T
|
rs886050636
|
|
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.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
NM_002382.5(MAX):c.373A>C (p.Asn125His)
|
rs2063062933
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
|
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
|
|
|
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
|
|
|
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
|
|
|
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
|
|
|
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
|
|
|
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
|
|
|
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)
|
rs1312583190
|
|
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
|
|
|
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
|
|
|
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
|
|
|
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe)
|
rs2113898287
|
|
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
|
|
|
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met)
|
rs2113897117
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
|
rs1760269359
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
|
|
|
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
|
|
|
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
|
|
|
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
|
|
|
NM_002609.4(PDGFRB):c.2023+6G>A
|
|
|
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
|
|
|
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
|
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
|
|
|
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr)
|
rs770635073
|
|
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
|
|
|
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn)
|
rs1760151971
|
|
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
|
|
|
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
|
|
|
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr)
|
rs2113890060
|
|
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
|
|
|
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
|
|
|
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
|
|
|
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
|
|
|
NM_002609.4(PDGFRB):c.2698+1G>T
|
|
|
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
|
|
|
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
|
|
|
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
|
|
|
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
|
|
|
NM_002609.4(PDGFRB):c.2905-1G>T
|
|
|
NM_002609.4(PDGFRB):c.2905-8G>A
|
rs201866603
|
|
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
|
|
|
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)
|
rs1561984983
|
|
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
|
|
|
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
|
|
|
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
|
|
|
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
|
|
|
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
|
|
|
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
|
|
|
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
|
|
|
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
|
|
|
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
|
|
|
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)
|
rs1562011077
|
|
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
|
|
|
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
|
|
|
NM_002609.4(PDGFRB):c.631+1G>A
|
rs111491260
|
|
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
|
|
|
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
|
|
|
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
|
|
|
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
|
|
|
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
|
|
|
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
|
|
|
NM_003000.2(SDHB):c.-81G>T
|
rs886045586
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
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.127G>A (p.Ala43Thr)
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)
|
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
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.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
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.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.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.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
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.182A>C (p.Tyr61Ser)
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
NM_003000.3(SDHB):c.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.200+3_200+6del
|
rs2101541290
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
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.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.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.219G>C (p.Leu73Phe)
|
|
|
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
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>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.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.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
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.259T>G (p.Leu87Val)
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
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.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
NM_003000.3(SDHB):c.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+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.286G>C (p.Gly96Arg)
|
|
|
NM_003000.3(SDHB):c.287-18A>G
|
|
|
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)
|
rs778952116
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
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.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
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.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
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.344G>T (p.Arg115Leu)
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
NM_003000.3(SDHB):c.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.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.370G>A (p.Val124Ile)
|
rs978525560
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
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.395A>G (p.His132Arg)
|
rs74315372
|
|
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.39G>C (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
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>C (p.Lys137Asn)
|
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.423+7T>A
|
|
|
NM_003000.3(SDHB):c.423C>A (p.Pro141=)
|
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
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.434A>G (p.Asn145Ser)
|
|
|
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.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
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.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
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.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
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.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
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.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.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>T (p.Glu178Asp)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
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.541-3C>A
|
rs751920183
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
NM_003000.3(SDHB):c.541-8C>G
|
rs1570946001
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
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.556T>C (p.Cys186Arg)
|
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
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.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
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.58G>A (p.Gly20Arg)
|
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
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.598T>G (p.Trp200Gly)
|
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
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.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
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.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
NM_003000.3(SDHB):c.643-8_643-3del
|
rs2077969156
|
|
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.654G>C (p.Trp218Cys)
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
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.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.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
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.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
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.710C>T (p.Pro237Leu)
|
rs878854579
|
|
NM_003000.3(SDHB):c.712T>G (p.Phe238Val)
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
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.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.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.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
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.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
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.73G>A (p.Ala25Thr)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
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.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
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.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
NM_003000.3(SDHB):c.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.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
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>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.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.98C>T (p.Ala33Val)
|
|
|
NM_003001.4(SDHC):c.*1012G>T
|
rs886045484
|
|
NM_003001.4(SDHC):c.*1314C>A
|
rs376293449
|
|
NM_003001.4(SDHC):c.*1332C>A
|
rs886045485
|
|
NM_003001.4(SDHC):c.*1534G>T
|
rs886045487
|
|
NM_003001.4(SDHC):c.*1584C>G
|
rs886045488
|
|
NM_003001.4(SDHC):c.*1695G>T
|
rs886045489
|
|
NM_003001.4(SDHC):c.*1784G>C
|
rs886045491
|
|
NM_003001.4(SDHC):c.*1843C>A
|
rs886045492
|
|
NM_003001.4(SDHC):c.*1898C>A
|
rs886045493
|
|
NM_003001.4(SDHC):c.*2141C>A
|
rs886045494
|
|
NM_003001.4(SDHC):c.*2236C>A
|
rs886045495
|
|
NM_003001.4(SDHC):c.*2264G>T
|
rs886045496
|
|
NM_003001.5(SDHC):c.*527G>T
|
rs886045481
|
|
NM_003001.5(SDHC):c.21-10dup
|
rs759481419
|
|
NM_003001.5(SDHC):c.406-13del
|
rs752685687
|
|
NM_003002.4(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.107A>C (p.Gln36Pro)
|
rs759143732
|
|
NM_003002.4(SDHD):c.108G>T (p.Gln36His)
|
rs766884646
|
|
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)
|
rs1865654125
|
|
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
|
|
|
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)
|
rs1032016970
|
|
NM_003002.4(SDHD):c.110A>T (p.Asp37Val)
|
rs1865654258
|
|
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)
|
rs199901239
|
|
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)
|
rs1043566340
|
|
NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)
|
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
|
rs1592778916
|
|
NM_003002.4(SDHD):c.120C>G (p.Ile40Met)
|
rs2135267285
|
|
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala)
|
rs764006625
|
|
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser)
|
rs764006625
|
|
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)
|
|
|
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr)
|
rs1566692479
|
|
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.13T>A (p.Trp5Arg)
|
|
|
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.150C>G (p.His50Gln)
|
|
|
NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)
|
|
|
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.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.167A>G (p.His56Arg)
|
rs1555186817
|
|
NM_003002.4(SDHD):c.168T>A (p.His56Gln)
|
rs1865657093
|
|
NM_003002.4(SDHD):c.169+3A>G
|
rs1865657168
|
|
NM_003002.4(SDHD):c.169+5G>C
|
rs1865657237
|
|
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
|
rs11547889
|
|
NM_003002.4(SDHD):c.170-12T>A
|
|
|
NM_003002.4(SDHD):c.170-5T>A
|
rs1218549926
|
|
NM_003002.4(SDHD):c.170-6T>G
|
rs753703004
|
|
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)
|
|
|
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe)
|
rs2135269128
|
|
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser)
|
rs1865684789
|
|
NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)
|
|
|
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.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.18G>T (p.Arg6Ser)
|
rs200895313
|
|
NM_003002.4(SDHD):c.190C>G (p.Leu64Val)
|
|
|
NM_003002.4(SDHD):c.194A>G (p.His65Arg)
|
rs780226013
|
|
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala)
|
rs2135269250
|
|
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
|
rs1592780362
|
|
NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)
|
|
|
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)
|
|
|
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.211G>T (p.Val71Phe)
|
rs1428042303
|
|
NM_003002.4(SDHD):c.220G>A (p.Val74Ile)
|
|
|
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser)
|
rs1060503777
|
|
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe)
|
rs1865687714
|
|
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe)
|
rs1865687801
|
|
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro)
|
rs1865687896
|
|
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)
|
rs1865619629
|
|
NM_003002.4(SDHD):c.231G>A (p.Leu77=)
|
rs1187106228
|
|
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)
|
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
NM_003002.4(SDHD):c.233G>T (p.Gly78Val)
|
rs1865688426
|
|
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
|
rs1592780488
|
|
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)
|
rs558914063
|
|
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)
|
rs80338844
|
|
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.247G>A (p.Ala83Thr)
|
|
|
NM_003002.4(SDHD):c.248C>T (p.Ala83Val)
|
rs370165653
|
|
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
|
|
|
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)
|
rs199517389
|
|
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser)
|
rs1279566824
|
|
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
|
rs772671893
|
|
NM_003002.4(SDHD):c.260C>A (p.Pro87His)
|
|
|
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
|
rs1592780559
|
|
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>G (p.Ala90Gly)
|
|
|
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.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.274G>A (p.Asp92Asn)
|
|
|
NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)
|
|
|
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
|
rs1592780620
|
|
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
|
rs199754684
|
|
NM_003002.4(SDHD):c.283C>G (p.Leu95Val)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr)
|
rs1265437700
|
|
NM_003002.4(SDHD):c.288_290del (p.Ala98del)
|
rs1566694825
|
|
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.292G>C (p.Ala98Pro)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.295C>G (p.Leu99Val)
|
rs1865692425
|
|
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala)
|
rs1555187065
|
|
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile)
|
rs557454864
|
|
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.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+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.315-2A>G
|
rs2135277333
|
|
NM_003002.4(SDHD):c.315-3T>C
|
rs1555187565
|
|
NM_003002.4(SDHD):c.315-3del
|
rs1566702297
|
|
NM_003002.4(SDHD):c.315-7_315-5delinsAAA
|
rs1060503775
|
|
NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)
|
|
|
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe)
|
rs1209781530
|
|
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
|
|
|
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)
|
rs1555187580
|
|
NM_003002.4(SDHD):c.331G>C (p.Val111Leu)
|
|
|
NM_003002.4(SDHD):c.332T>C (p.Val111Ala)
|
rs1592786183
|
|
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala)
|
rs1865809730
|
|
NM_003002.4(SDHD):c.337G>C (p.Asp113His)
|
|
|
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.340T>C (p.Tyr114His)
|
rs876659276
|
|
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.34G>C (p.Gly12Arg)
|
|
|
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)
|
rs1865810526
|
|
NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)
|
|
|
NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)
|
|
|
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)
|
rs911663426
|
|
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser)
|
rs930768406
|
|
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
|
rs758784300
|
|
NM_003002.4(SDHD):c.35G>T (p.Gly12Val)
|
rs764384503
|
|
NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)
|
|
|
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.374A>G (p.Lys125Arg)
|
rs1592786256
|
|
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr)
|
rs1592786265
|
|
NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)
|
|
|
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)
|
|
|
NM_003002.4(SDHD):c.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.386T>C (p.Leu129Ser)
|
rs201726097
|
|
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)
|
rs201726097
|
|
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser)
|
rs1312671864
|
|
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.394T>G (p.Ser132Ala)
|
rs2135277611
|
|
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.404C>T (p.Thr135Ile)
|
rs2135277637
|
|
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.410C>T (p.Ala137Val)
|
rs749250498
|
|
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr)
|
rs2135277691
|
|
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu)
|
rs2135277712
|
|
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
|
|
|
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)
|
rs1865812863
|
|
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)
|
rs745732631
|
|
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)
|
|
|
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.439G>A (p.Val147Met)
|
rs1865813583
|
|
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
|
rs1476121898
|
|
NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)
|
|
|
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)
|
rs1865813813
|
|
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser)
|
rs1295620545
|
|
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)
|
|
|
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
|
|
|
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)
|
rs1865621392
|
|
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn)
|
rs761953172
|
|
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr)
|
rs1865814160
|
|
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
|
rs1592786423
|
|
NM_003002.4(SDHD):c.458T>C (p.Val153Ala)
|
rs1555187644
|
|
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)
|
|
|
NM_003002.4(SDHD):c.463A>G (p.Met155Val)
|
rs2135277828
|
|
NM_003002.4(SDHD):c.464T>C (p.Met155Thr)
|
|
|
NM_003002.4(SDHD):c.466C>G (p.Leu156Val)
|
|
|
NM_003002.4(SDHD):c.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.478T>A (p.Ter160Arg)
|
rs1555187655
|
|
NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)
|
|
|
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.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+5G>A
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+5G>C
|
rs1592777393
|
|
NM_003002.4(SDHD):c.53-10_53-9del
|
|
|
NM_003002.4(SDHD):c.53-11T>C
|
|
|
NM_003002.4(SDHD):c.53-16A>G
|
rs915385437
|
|
NM_003002.4(SDHD):c.53-3C>T
|
|
|
NM_003002.4(SDHD):c.53-6C>A
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003002.4(SDHD):c.53-9_53-6del
|
rs1592778629
|
|
NM_003002.4(SDHD):c.58T>A (p.Leu20Met)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)
|
rs1440670464
|
|
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.65G>A (p.Arg22Gln)
|
rs1555186772
|
|
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)
|
|
|
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.73G>T (p.Val25Leu)
|
rs878854597
|
|
NM_003002.4(SDHD):c.7G>A (p.Val3Ile)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>C (p.Val3Leu)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>T (p.Val3Phe)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)
|
rs541477171
|
|
NM_003002.4(SDHD):c.83C>A (p.Pro28His)
|
rs2135267114
|
|
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)
|
|
|
NM_003002.4(SDHD):c.86C>T (p.Ala29Val)
|
rs1555186774
|
|
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
|
rs1865653068
|
|
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)
|
|
|
NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)
|
|
|
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_003483.6(HMGA2):c.283-2A>G
|
rs1592471112
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
|
|
|
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
|
|
|
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
|
|
|
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)
|
rs755664291
|
|
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
|
rs771986131
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr)
|
rs2133989896
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
NM_005401.5(PTPN14):c.*6320C>T
|
|
|
NM_005401.5(PTPN14):c.-154-22749A>G
|
|
|
NM_005401.5(PTPN14):c.-154-42562G>A
|
|
|
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
|
|
|
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
|
|
|
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
|
|
|
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
|
|
|
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
|
|
|
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
|
|
|
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)
|
rs1724332515
|
|
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
|
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
|
|
|
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.*1819C>A
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1819C>G
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1883_*1886dup
|
rs886056439
|
|
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.*3348G>C
|
rs886056429
|
|
NM_017849.4(TMEM127):c.*662G>A
|
rs886056445
|
|
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.-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.130C>G (p.Leu44Val)
|
|
|
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
|
rs786202314
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
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.266C>T (p.Thr89Ile)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
|
|
|
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
|
|
|
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
|
|
|
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
|
|
|
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
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.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
|
rs761885719
|
|
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
|
rs1684143889
|
|
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
|
|
|
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
|
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
|
NM_020975.6(RET):c.*1020G>T
|
rs886047004
|
|
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.*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.-173A>G
|
rs1359755826
|
|
NM_020975.6(RET):c.-187C>A
|
rs886046983
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)
|
rs138847998
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2580G>A (p.Gln860=)
|
rs886046988
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)
|
rs759552236
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)
|
rs1482868825
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)
|
rs1260404537
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
|
rs1554079046
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)
|
rs1568748859
|
|
NM_153490.3(KRT13):c.*162T>C
|
rs1904829902
|
|
NM_153490.3(KRT13):c.*19C>T
|
rs760565338
|
|
NM_153490.3(KRT13):c.*85C>T
|
rs886052906
|
|
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly)
|
rs764088068
|
|
NM_153490.3(KRT13):c.540T>C (p.Ile180=)
|
rs755205284
|
|
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr)
|
rs1904920258
|
|
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
|
|
|
NR_073138.1(MAX):n.146C>G
|
rs899541680
|
|