NM_000890.5(KCNJ5):c.-293C>G
|
rs376640553
|
0.32896
|
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln)
|
rs6688832
|
0.30935
|
NM_000890.5(KCNJ5):c.-295C>G
|
rs372328307
|
0.22991
|
NM_000890.5(KCNJ5):c.-297C>G
|
rs71470654
|
0.19749
|
NM_000890.5(KCNJ5):c.-299C>G
|
rs71470655
|
0.13635
|
NM_000529.2(MC2R):c.*998T>A
|
rs4797823
|
0.13235
|
NM_000890.5(KCNJ5):c.-303C>G
|
rs866881260
|
0.06090
|
NM_000529.2(MC2R):c.*996A>T
|
rs4996467
|
0.05839
|
NM_000529.2(MC2R):c.*1000T>A
|
rs886053636
|
0.03268
|
NM_000890.5(KCNJ5):c.-305C>G
|
rs1460266228
|
0.01893
|
NM_000529.2(MC2R):c.*1002T>A
|
rs761446119
|
0.01879
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000497.4(CYP11B1):c.1122-20A>G
|
rs61752794
|
0.01661
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
NM_015665.6(AAAS):c.-130C>T
|
rs149864679
|
0.00832
|
NM_001395413.1(POR):c.*51C>T
|
rs41302345
|
0.00770
|
NM_000198.3(HSD3B2):c.-145G>A
|
rs35226381
|
0.00744
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_031925.3(TMEM120A):c.*305A>C
|
rs41302351
|
0.00710
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_000890.5(KCNJ5):c.-307C>G
|
rs1468425197
|
0.00660
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_000102.4(CYP17A1):c.-14G>A
|
rs17115125
|
0.00562
|
NM_000529.2(MC2R):c.*994A>T
|
rs4996466
|
0.00471
|
NM_001395413.1(POR):c.*240C>T
|
rs13921
|
0.00471
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_000529.2(MC2R):c.*990A>T
|
rs993146709
|
0.00455
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_000529.2(MC2R):c.*578C>A
|
rs34482956
|
0.00404
|
NM_015665.6(AAAS):c.679T>C (p.Leu227=)
|
rs80027466
|
0.00392
|
NM_000890.5(KCNJ5):c.-289G>C
|
rs60658163
|
0.00389
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)
|
rs6207
|
0.00387
|
NM_001395413.1(POR):c.*63C>T
|
rs72557961
|
0.00342
|
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=)
|
rs5290
|
0.00338
|
NM_000529.2(MC2R):c.*1537A>G
|
rs34722656
|
0.00332
|
NM_000349.3(STAR):c.*395G>A
|
rs115807877
|
0.00320
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)
|
rs143655263
|
0.00303
|
NM_000176.3(NR3C1):c.*3877C>T
|
rs10482716
|
0.00291
|
NM_000529.2(MC2R):c.*1004T>A
|
rs1313532679
|
0.00291
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=)
|
rs138177167
|
0.00268
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_000349.3(STAR):c.*1122T>A
|
rs72556520
|
0.00254
|
NM_015665.6(AAAS):c.-73G>A
|
rs561616104
|
0.00252
|
NM_000349.3(STAR):c.433G>A (p.Gly145Arg)
|
rs80231229
|
0.00250
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00248
|
NM_000529.2(MC2R):c.*582C>A
|
rs34861769
|
0.00237
|
NM_000497.4(CYP11B1):c.395+9C>T
|
rs61751140
|
0.00235
|
NM_000349.3(STAR):c.*981A>G
|
rs188232971
|
0.00228
|
NM_000529.2(MC2R):c.*1452A>G
|
rs34158267
|
0.00225
|
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
|
rs143240527
|
0.00204
|
NM_000349.3(STAR):c.*1472C>T
|
rs7833285
|
0.00203
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
|
rs144029176
|
0.00193
|
NM_003001.5(SDHC):c.*397G>A
|
rs74124906
|
0.00189
|
NM_003001.5(SDHC):c.*518G>A
|
rs375109418
|
0.00189
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_003001.5(SDHC):c.*78G>A
|
rs182629842
|
0.00182
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_003001.4(SDHC):c.*1159C>T
|
rs760243208
|
0.00180
|
NM_000349.3(STAR):c.*116T>G
|
rs35462433
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His)
|
rs141368413
|
0.00177
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_001395413.1(POR):c.*60C>T
|
rs72557960
|
0.00173
|
NM_000941.2(POR):c.-33G>T
|
rs72553977
|
0.00172
|
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)
|
rs200951744
|
0.00172
|
NM_000349.3(STAR):c.*88G>C
|
rs112828857
|
0.00169
|
NM_001395413.1(POR):c.-14G>C
|
rs886062438
|
0.00167
|
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)
|
rs151335623
|
0.00158
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
NM_003002.4(SDHD):c.*369A>G
|
rs200753024
|
0.00157
|
NM_015665.6(AAAS):c.1249+8G>A
|
rs200834285
|
0.00155
|
NM_000198.4(HSD3B2):c.*397T>A
|
rs753468192
|
0.00153
|
NM_003002.4(SDHD):c.*663A>G
|
rs200264243
|
0.00146
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_001018077.1(NR3C1):c.-745C>T
|
rs61757431
|
0.00142
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr)
|
rs72542742
|
0.00134
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_003002.4(SDHD):c.*822T>C
|
rs201472512
|
0.00133
|
NM_001105247.2(ARMC5):c.1864+198T>A
|
rs150981686
|
0.00129
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
NM_000529.2(MC2R):c.429C>T (p.Thr143=)
|
rs138421793
|
0.00127
|
NM_000498.3(CYP11B2):c.*1340T>A
|
rs61763988
|
0.00124
|
NM_000349.3(STAR):c.650+13G>T
|
rs377756089
|
0.00123
|
NM_000349.3(STAR):c.*230A>G
|
rs34575008
|
0.00120
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000349.3(STAR):c.466-5G>A
|
rs375678713
|
0.00111
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_000349.3(STAR):c.481G>A (p.Gly161Arg)
|
rs188044385
|
0.00103
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000498.3(CYP11B2):c.*789G>A
|
rs61763990
|
0.00095
|
NM_003001.5(SDHC):c.*409G>A
|
rs186995249
|
0.00095
|
NM_003001.4(SDHC):c.*1098T>C
|
rs569588829
|
0.00094
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
NM_000890.5(KCNJ5):c.*191C>T
|
rs575827982
|
0.00092
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_031925.3(TMEM120A):c.*319C>T
|
rs2286824
|
0.00088
|
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
|
rs35486059
|
0.00087
|
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)
|
rs143758913
|
0.00087
|
NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr)
|
rs138427178
|
0.00086
|
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=)
|
rs141127674
|
0.00083
|
NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)
|
rs142897309
|
0.00083
|
NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)
|
rs141789054
|
0.00081
|
NM_000176.3(NR3C1):c.*2056dup
|
rs886060046
|
0.00076
|
NM_000176.3(NR3C1):c.*808T>C
|
rs182544753
|
0.00075
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_000349.3(STAR):c.*1557A>G
|
rs774615544
|
0.00074
|
NM_000529.2(MC2R):c.*992A>T
|
rs897474751
|
0.00074
|
NM_000163.5(GHR):c.686G>A (p.Arg229His)
|
rs6177
|
0.00073
|
NM_000176.3(NR3C1):c.*1176C>T
|
rs61753504
|
0.00072
|
NM_000176.3(NR3C1):c.*3330G>T
|
rs61753512
|
0.00072
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000349.3(STAR):c.*880C>T
|
rs548810270
|
0.00067
|
NM_000176.3(NR3C1):c.*3937A>T
|
rs4518436
|
0.00066
|
NM_002382.5(MAX):c.*1229C>T
|
rs562514408
|
0.00066
|
NM_000529.2(MC2R):c.765G>A (p.Met255Ile)
|
rs181640454
|
0.00062
|
NM_001395413.1(POR):c.*76G>A
|
rs55909219
|
0.00062
|
NM_017849.4(TMEM127):c.*2128C>A
|
rs533813582
|
0.00061
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_000176.3(NR3C1):c.*3580T>C
|
rs61754801
|
0.00059
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
NM_016953.4(PDE11A):c.171del (p.Thr58fs)
|
rs529789124
|
0.00056
|
NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)
|
rs77597060
|
0.00056
|
NM_017849.4(TMEM127):c.*980G>A
|
rs77989183
|
0.00056
|
NM_000176.3(NR3C1):c.*954C>G
|
rs766219976
|
0.00055
|
NM_000349.3(STAR):c.*818G>A
|
rs558498679
|
0.00054
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_000102.4(CYP17A1):c.*65C>A
|
rs537220295
|
0.00051
|
NM_001370259.2(MEN1):c.*272T>C
|
rs563783609
|
0.00051
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys)
|
rs374141883
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)
|
rs201009269
|
0.00045
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
NM_000890.5(KCNJ5):c.-63G>C
|
rs557063967
|
0.00044
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
NM_017841.4(SDHAF2):c.*479A>G
|
rs747570882
|
0.00044
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_000349.3(STAR):c.306+10G>A
|
rs200480072
|
0.00043
|
NM_000781.3(CYP11A1):c.915C>G (p.Leu305=)
|
rs148430549
|
0.00043
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
NM_001395413.1(POR):c.898C>T (p.Leu300Phe)
|
rs201649877
|
0.00042
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_000102.3(CYP17A1):c.-166G>C
|
rs58519757
|
0.00041
|
NM_000529.2(MC2R):c.795C>T (p.Ile265=)
|
rs141349908
|
0.00041
|
NM_000497.4(CYP11B1):c.*614C>T
|
rs772616356
|
0.00040
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)
|
rs112579822
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_000176.3(NR3C1):c.*1628A>G
|
rs372713535
|
0.00038
|
NM_001018077.1(NR3C1):c.-553G>A
|
rs536482885
|
0.00038
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_000102.4(CYP17A1):c.753+13G>A
|
rs201956379
|
0.00036
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
NM_000176.3(NR3C1):c.*1464A>G
|
rs572503540
|
0.00035
|
NM_000176.3(NR3C1):c.*3300G>T
|
rs72542770
|
0.00035
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_000349.3(STAR):c.*930C>T
|
rs915400542
|
0.00033
|
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
|
rs370710427
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_000033.4(ABCD1):c.*903G>A
|
rs78155328
|
0.00032
|
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)
|
rs200377867
|
0.00032
|
NM_000033.4(ABCD1):c.*767C>T
|
rs1276642493
|
0.00031
|
NM_000102.4(CYP17A1):c.298-11G>C
|
rs188885755
|
0.00031
|
NM_000176.3(NR3C1):c.*937C>A
|
rs72542760
|
0.00031
|
NM_000349.3(STAR):c.-70G>T
|
rs370257148
|
0.00031
|
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)
|
rs373993732
|
0.00031
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His)
|
rs150725205
|
0.00031
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)
|
rs144873582
|
0.00031
|
NM_015665.6(AAAS):c.63C>G (p.His21Gln)
|
rs200408293
|
0.00030
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
NM_000349.3(STAR):c.*1543C>A
|
rs748527738
|
0.00029
|
NM_000349.3(STAR):c.*187T>C
|
rs779430429
|
0.00029
|
NM_001379228.1(MRAP):c.219G>A (p.Lys73=)
|
rs201238667
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_003002.4(SDHD):c.*762A>G
|
rs191837062
|
0.00029
|
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val)
|
rs538959856
|
0.00029
|
NM_021098.3(CACNA1H):c.2605G>A (p.Val869Ile)
|
rs531253297
|
0.00029
|
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp)
|
rs74162063
|
0.00028
|
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)
|
rs138077680
|
0.00028
|
NM_000176.3(NR3C1):c.*3003A>G
|
rs61753509
|
0.00027
|
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr)
|
rs137978189
|
0.00027
|
NM_015665.6(AAAS):c.1416+8C>T
|
rs370325323
|
0.00027
|
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)
|
rs371126595
|
0.00026
|
NM_000781.3(CYP11A1):c.261G>A (p.Pro87=)
|
rs141375785
|
0.00026
|
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)
|
rs199914911
|
0.00026
|
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)
|
rs375242946
|
0.00025
|
NM_000529.2(MC2R):c.537G>A (p.Thr179=)
|
rs137893541
|
0.00025
|
NM_001018077.1(NR3C1):c.-367G>A
|
rs531630337
|
0.00025
|
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer)
|
rs774660673
|
0.00025
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_000349.3(STAR):c.*1513C>G
|
rs963043269
|
0.00024
|
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)
|
rs140835367
|
0.00024
|
NM_000497.4(CYP11B1):c.*613A>G
|
rs1137480
|
0.00024
|
NM_001395413.1(POR):c.*179G>A
|
rs184275273
|
0.00024
|
NM_001395413.1(POR):c.*273T>C
|
rs782378740
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_017849.4(TMEM127):c.*612C>T
|
rs549115489
|
0.00024
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
NM_000176.3(NR3C1):c.*3406C>G
|
rs771678306
|
0.00023
|
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)
|
rs146810389
|
0.00023
|
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)
|
rs193922534
|
0.00023
|
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser)
|
rs764636694
|
0.00023
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter)
|
rs761719764
|
0.00023
|
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)
|
rs142788946
|
0.00022
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
NM_000890.5(KCNJ5):c.*960G>C
|
rs186315097
|
0.00022
|
NM_002382.5(MAX):c.-80G>A
|
rs886050634
|
0.00022
|
NM_021098.3(CACNA1H):c.6049-3C>T
|
rs143900018
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)
|
rs148205451
|
0.00021
|
NM_000529.2(MC2R):c.*1870A>G
|
rs142781228
|
0.00021
|
NM_001395413.1(POR):c.*218C>T
|
rs539326245
|
0.00021
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu)
|
rs1045818263
|
0.00021
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
NM_000033.4(ABCD1):c.*412T>C
|
rs1057515815
|
0.00020
|
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu)
|
rs200955183
|
0.00020
|
NM_017849.4(TMEM127):c.*3396G>A
|
rs762419401
|
0.00020
|
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)
|
rs13306425
|
0.00019
|
NM_000383.4(AIRE):c.538+6C>T
|
rs371847563
|
0.00019
|
NM_000383.4(AIRE):c.538+7G>A
|
rs575144370
|
0.00019
|
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)
|
rs193922536
|
0.00019
|
NM_001395413.1(POR):c.*178C>T
|
rs535637875
|
0.00019
|
NM_002382.5(MAX):c.*873T>C
|
rs183467855
|
0.00019
|
NM_003000.3(SDHB):c.*102A>G
|
rs201155896
|
0.00019
|
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)
|
rs200871966
|
0.00019
|
NM_015665.6(AAAS):c.996+12C>T
|
rs200312077
|
0.00019
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)
|
rs202019417
|
0.00019
|
NM_021098.3(CACNA1H):c.3363+6G>A
|
rs574199321
|
0.00019
|
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn)
|
rs552269381
|
0.00019
|
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)
|
rs142037395
|
0.00018
|
NM_000349.3(STAR):c.*698C>A
|
rs558290486
|
0.00018
|
NM_000349.3(STAR):c.*699C>G
|
rs540152389
|
0.00018
|
NM_000941.2(POR):c.-80A>C
|
rs886062437
|
0.00018
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
|
rs149609996
|
0.00017
|
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser)
|
rs190764523
|
0.00017
|
NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)
|
rs376465589
|
0.00017
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_021098.3(CACNA1H):c.4777+5C>T
|
rs370513262
|
0.00017
|
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)
|
rs376901046
|
0.00016
|
NM_000383.4(AIRE):c.137C>T (p.Thr46Met)
|
rs758870962
|
0.00016
|
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys)
|
rs141480813
|
0.00016
|
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln)
|
rs201137503
|
0.00016
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_000529.2(MC2R):c.-129+10T>C
|
rs750975919
|
0.00016
|
NM_000529.2(MC2R):c.21G>A (p.Ser7=)
|
rs371151390
|
0.00016
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_001395413.1(POR):c.506C>T (p.Ala169Val)
|
rs374967948
|
0.00016
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
NM_017841.3(SDHAF2):c.*669A>G
|
rs747631379
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)
|
rs375325893
|
0.00016
|
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)
|
rs200709671
|
0.00016
|
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His)
|
rs370384766
|
0.00016
|
NM_000176.3(NR3C1):c.*2956G>A
|
rs535011433
|
0.00015
|
NM_000349.3(STAR):c.178+7G>A
|
rs376633284
|
0.00015
|
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)
|
rs553396434
|
0.00015
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
0.00015
|
NM_000497.4(CYP11B1):c.*345C>A
|
rs368195405
|
0.00015
|
NM_000497.4(CYP11B1):c.*737C>T
|
rs748684062
|
0.00015
|
NM_000529.2(MC2R):c.435C>T (p.Arg145=)
|
rs369830440
|
0.00015
|
NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg)
|
rs201775251
|
0.00015
|
NM_001395413.1(POR):c.793C>T (p.Arg265Trp)
|
rs200471958
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met)
|
rs370975488
|
0.00015
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000176.3(NR3C1):c.88T>C (p.Tyr30His)
|
rs143711342
|
0.00014
|
NM_000198.4(HSD3B2):c.-106T>C
|
rs587688647
|
0.00014
|
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)
|
rs561652010
|
0.00014
|
NM_000383.4(AIRE):c.880-7G>A
|
rs141955483
|
0.00014
|
NM_000497.4(CYP11B1):c.*1264A>C
|
rs547356106
|
0.00014
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001395413.1(POR):c.1700G>A (p.Arg567His)
|
rs372955296
|
0.00014
|
NM_001395413.1(POR):c.2009G>A (p.Arg670His)
|
rs376693603
|
0.00014
|
NM_003002.4(SDHD):c.*111A>G
|
rs867154098
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
0.00014
|
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)
|
rs368094339
|
0.00014
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_021098.3(CACNA1H):c.1119+6C>T
|
rs372159580
|
0.00014
|
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln)
|
rs1180154075
|
0.00014
|
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
NM_000176.3(NR3C1):c.*2928A>G
|
rs763603358
|
0.00013
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000498.3(CYP11B2):c.102G>A (p.Thr34=)
|
rs367950425
|
0.00013
|
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala)
|
rs200283987
|
0.00013
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
NM_001395413.1(POR):c.149A>T (p.Glu50Val)
|
rs376145249
|
0.00013
|
NM_001395413.1(POR):c.391G>A (p.Ala131Thr)
|
rs201365892
|
0.00013
|
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_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)
|
rs143751880
|
0.00013
|
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)
|
rs777217625
|
0.00013
|
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu)
|
rs143952576
|
0.00012
|
NM_000498.3(CYP11B2):c.*579T>C
|
rs559136479
|
0.00012
|
NM_000498.3(CYP11B2):c.*993A>G
|
rs61763989
|
0.00012
|
NM_000529.2(MC2R):c.*366G>T
|
rs768500810
|
0.00012
|
NM_000890.5(KCNJ5):c.-272A>G
|
rs886048007
|
0.00012
|
NM_001018077.1(NR3C1):c.-904G>A
|
rs61757429
|
0.00012
|
NM_001370259.2(MEN1):c.-23-135G>A
|
rs587777949
|
0.00012
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)
|
rs200337116
|
0.00012
|
NM_017841.4(SDHAF2):c.430G>A (p.Ala144Thr)
|
rs572576746
|
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_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
0.00012
|
NM_000176.3(NR3C1):c.*3383T>G
|
rs983670372
|
0.00011
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000349.2(STAR):c.-255G>T
|
rs567801443
|
0.00011
|
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu)
|
rs368331265
|
0.00011
|
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)
|
rs139835427
|
0.00011
|
NM_000383.4(AIRE):c.354C>G (p.Val118=)
|
rs528667089
|
0.00011
|
NM_000383.4(AIRE):c.825G>C (p.Gln275His)
|
rs1027582142
|
0.00011
|
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala)
|
rs201951316
|
0.00011
|
NM_000529.2(MC2R):c.*673C>T
|
rs1039130161
|
0.00011
|
NM_000529.2(MC2R):c.377C>T (p.Ala126Val)
|
rs368669544
|
0.00011
|
NM_001018077.1(NR3C1):c.-464G>T
|
rs372764988
|
0.00011
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
NM_001395413.1(POR):c.1419G>A (p.Ala473=)
|
rs782722572
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser)
|
rs369181144
|
0.00011
|
NM_001395413.1(POR):c.710G>A (p.Gly237Asp)
|
rs782746344
|
0.00011
|
NM_003001.4(SDHC):c.*1918G>A
|
rs867593097
|
0.00011
|
NM_003001.5(SDHC):c.*707G>A
|
rs890575302
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)
|
rs549821547
|
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_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg)
|
rs369898856
|
0.00011
|
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
|
rs56930579
|
0.00011
|
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)
|
rs374847612
|
0.00011
|
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met)
|
rs747265858
|
0.00011
|
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)
|
rs376472029
|
0.00010
|
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu)
|
rs202237214
|
0.00010
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
|
rs752687905
|
0.00010
|
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
|
rs200899780
|
0.00010
|
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)
|
rs74162062
|
0.00010
|
NM_000497.4(CYP11B1):c.*1209C>T
|
rs757505651
|
0.00010
|
NM_000498.3(CYP11B2):c.*504C>T
|
rs201487778
|
0.00010
|
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala)
|
rs778346287
|
0.00010
|
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)
|
rs151344505
|
0.00010
|
NM_000890.5(KCNJ5):c.-35G>C
|
rs572785542
|
0.00010
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.150A>C (p.Glu50Asp)
|
rs370701548
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_004168.4(SDHA):c.*189C>T
|
rs185107377
|
0.00010
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)
|
rs370675810
|
0.00010
|
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His)
|
rs200627008
|
0.00010
|
NM_000102.4(CYP17A1):c.-15C>T
|
rs140012815
|
0.00009
|
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)
|
rs145117545
|
0.00009
|
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=)
|
rs112892739
|
0.00009
|
NM_000176.3(NR3C1):c.*256A>G
|
rs13306585
|
0.00009
|
NM_000198.4(HSD3B2):c.*46C>T
|
rs371081728
|
0.00009
|
NM_000349.3(STAR):c.*913C>T
|
rs551135472
|
0.00009
|
NM_000349.3(STAR):c.108C>T (p.Asn36=)
|
rs373945555
|
0.00009
|
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)
|
rs138949170
|
0.00009
|
NM_000497.4(CYP11B1):c.*946G>A
|
rs1312537684
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met)
|
rs373369254
|
0.00009
|
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile)
|
rs368296597
|
0.00009
|
NM_000529.2(MC2R):c.*911A>C
|
rs886053643
|
0.00009
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.571C>T (p.Arg191Trp)
|
rs782025961
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln)
|
rs182877860
|
0.00009
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
|
rs745438072
|
0.00009
|
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)
|
rs151043830
|
0.00009
|
NM_015665.6(AAAS):c.843C>G (p.Pro281=)
|
rs145196232
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_017849.4(TMEM127):c.*1638G>C
|
rs753339060
|
0.00009
|
NM_017849.4(TMEM127):c.*3134C>T
|
rs566067694
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
|
rs374363044
|
0.00009
|
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
|
rs932161061
|
0.00009
|
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser)
|
rs373669637
|
0.00009
|
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
|
rs775405041
|
0.00009
|
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln)
|
rs949170696
|
0.00009
|
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr)
|
rs375015931
|
0.00009
|
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu)
|
rs535814707
|
0.00009
|
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)
|
rs374769118
|
0.00008
|
NM_000176.3(NR3C1):c.753G>A (p.Pro251=)
|
rs375379753
|
0.00008
|
NM_000349.3(STAR):c.*817C>T
|
rs886062901
|
0.00008
|
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)
|
rs140123041
|
0.00008
|
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=)
|
rs199988205
|
0.00008
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_001370259.2(MEN1):c.*438C>T
|
rs886048474
|
0.00008
|
NM_001395413.1(POR):c.1085C>T (p.Pro362Leu)
|
rs373022822
|
0.00008
|
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile)
|
rs782402961
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_003002.4(SDHD):c.*815T>C
|
rs886047703
|
0.00008
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
NM_015665.6(AAAS):c.308T>C (p.Val103Ala)
|
rs201692749
|
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_021098.3(CACNA1H):c.2390G>A (p.Arg797His)
|
rs200791167
|
0.00008
|
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser)
|
rs556556052
|
0.00008
|
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)
|
rs780831084
|
0.00008
|
NM_021098.3(CACNA1H):c.5040-3C>T
|
rs769178587
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=)
|
rs367929249
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val)
|
rs587741317
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000349.3(STAR):c.*897C>T
|
rs1216495200
|
0.00007
|
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu)
|
rs374475349
|
0.00007
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
0.00007
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His)
|
rs150366975
|
0.00007
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_001395413.1(POR):c.1966G>A (p.Ala656Thr)
|
rs373737641
|
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_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
NM_004168.4(SDHA):c.770+12A>G
|
rs201245536
|
0.00007
|
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
|
rs375401465
|
0.00007
|
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr)
|
rs752863555
|
0.00007
|
NM_015665.6(AAAS):c.333C>T (p.Ser111=)
|
rs146770218
|
0.00007
|
NM_015665.6(AAAS):c.939C>T (p.Val313=)
|
rs79881935
|
0.00007
|
NM_017841.4(SDHAF2):c.*284C>T
|
rs1024784170
|
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_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
0.00007
|
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=)
|
rs200522574
|
0.00007
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr)
|
rs374265107
|
0.00007
|
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)
|
rs575909585
|
0.00007
|
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000102.4(CYP17A1):c.-33G>A
|
rs754158354
|
0.00006
|
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=)
|
rs554217514
|
0.00006
|
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)
|
rs45588036
|
0.00006
|
NM_000176.3(NR3C1):c.*1825G>C
|
rs1035379863
|
0.00006
|
NM_000176.3(NR3C1):c.*3319G>C
|
rs886060039
|
0.00006
|
NM_000176.3(NR3C1):c.*618A>G
|
rs886060056
|
0.00006
|
NM_000176.3(NR3C1):c.*905A>T
|
rs1034700180
|
0.00006
|
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly)
|
rs886060061
|
0.00006
|
NM_000198.4(HSD3B2):c.*121C>A
|
rs886045198
|
0.00006
|
NM_000198.4(HSD3B2):c.*177C>T
|
rs886045199
|
0.00006
|
NM_000349.3(STAR):c.*93C>T
|
rs776003335
|
0.00006
|
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu)
|
rs552129156
|
0.00006
|
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)
|
rs771790456
|
0.00006
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
|
rs753460287
|
0.00006
|
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln)
|
rs200359179
|
0.00006
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
NM_000497.4(CYP11B1):c.*857T>C
|
rs370725779
|
0.00006
|
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)
|
rs372115638
|
0.00006
|
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)
|
rs373856010
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000498.3(CYP11B2):c.*205G>A
|
rs1296538192
|
0.00006
|
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg)
|
rs144140791
|
0.00006
|
NM_000529.2(MC2R):c.*1274T>A
|
rs886053623
|
0.00006
|
NM_000529.2(MC2R):c.*216G>A
|
rs184146485
|
0.00006
|
NM_000529.2(MC2R):c.*406C>A
|
rs553257738
|
0.00006
|
NM_000529.2(MC2R):c.808G>A (p.Val270Ile)
|
rs769721256
|
0.00006
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)
|
rs773500082
|
0.00006
|
NM_001379228.1(MRAP):c.486C>G (p.Pro162=)
|
rs146788457
|
0.00006
|
NM_001395413.1(POR):c.*33C>T
|
rs200310098
|
0.00006
|
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys)
|
rs202243657
|
0.00006
|
NM_001395413.1(POR):c.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly)
|
rs781795917
|
0.00006
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
NM_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
0.00006
|
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)
|
rs146383819
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003001.5(SDHC):c.*728C>G
|
rs1008852378
|
0.00006
|
NM_004168.4(SDHA):c.*102G>A
|
rs1009017730
|
0.00006
|
NM_004168.4(SDHA):c.-5C>T
|
rs572126995
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met)
|
rs376497260
|
0.00006
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
NM_017841.4(SDHAF2):c.*661A>G
|
rs771298430
|
0.00006
|
NM_017841.4(SDHAF2):c.13A>G (p.Thr5Ala)
|
rs775763888
|
0.00006
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_017849.4(TMEM127):c.*2121G>T
|
rs778493549
|
0.00006
|
NM_017849.4(TMEM127):c.*2875A>G
|
rs915390483
|
0.00006
|
NM_017849.4(TMEM127):c.*3560G>T
|
rs886056428
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_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_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg)
|
rs776058661
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
0.00006
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val)
|
rs754671059
|
0.00006
|
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp)
|
rs373867411
|
0.00006
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln)
|
rs149367557
|
0.00006
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
0.00006
|
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys)
|
rs60760436
|
0.00006
|
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys)
|
rs755405205
|
0.00006
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp)
|
rs771195242
|
0.00006
|
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)
|
rs367584657
|
0.00006
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)
|
rs376074317
|
0.00005
|
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly)
|
rs142435666
|
0.00005
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000349.3(STAR):c.563G>A (p.Arg188His)
|
rs61736315
|
0.00005
|
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser)
|
rs554591629
|
0.00005
|
NM_000383.4(AIRE):c.1367G>A (p.Arg456His)
|
rs554954634
|
0.00005
|
NM_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000497.4(CYP11B1):c.*670A>C
|
rs879537131
|
0.00005
|
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
NM_000498.3(CYP11B2):c.*879G>A
|
rs375657023
|
0.00005
|
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg)
|
rs752962897
|
0.00005
|
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)
|
rs769533897
|
0.00005
|
NM_000500.9(CYP21A2):c.939+5G>A
|
rs557564791
|
0.00005
|
NM_000781.3(CYP11A1):c.-59A>G
|
rs567971184
|
0.00005
|
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)
|
rs530587789
|
0.00005
|
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)
|
rs746985291
|
0.00005
|
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln)
|
rs150147528
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_001379228.1(MRAP):c.106+15G>C
|
rs746170274
|
0.00005
|
NM_001395413.1(POR):c.137A>G (p.Lys46Arg)
|
rs782289780
|
0.00005
|
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)
|
rs72557947
|
0.00005
|
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)
|
rs782814705
|
0.00005
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)
|
rs769768770
|
0.00005
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)
|
rs147832114
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser)
|
rs376560419
|
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_021098.3(CACNA1H):c.1067A>G (p.Asn356Ser)
|
rs1967723771
|
0.00005
|
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys)
|
rs577233623
|
0.00005
|
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)
|
rs994418105
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg)
|
rs763407611
|
0.00005
|
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile)
|
rs768438272
|
0.00005
|
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu)
|
rs765181693
|
0.00005
|
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
|
rs752799249
|
0.00005
|
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn)
|
rs555853603
|
0.00005
|
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
|
rs759669950
|
0.00005
|
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)
|
rs377103385
|
0.00005
|
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln)
|
rs762634881
|
0.00005
|
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)
|
rs771909122
|
0.00005
|
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=)
|
rs779167465
|
0.00004
|
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=)
|
rs369081864
|
0.00004
|
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)
|
rs567775035
|
0.00004
|
NM_000163.5(GHR):c.1589T>C (p.Met530Thr)
|
rs148677728
|
0.00004
|
NM_000349.3(STAR):c.*1473G>A
|
rs879150926
|
0.00004
|
NM_000349.3(STAR):c.*688C>T
|
rs1374700700
|
0.00004
|
NM_000349.3(STAR):c.178+9T>C
|
rs777624416
|
0.00004
|
NM_000349.3(STAR):c.488A>T (p.Asp163Val)
|
rs201579617
|
0.00004
|
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser)
|
rs1267538837
|
0.00004
|
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr)
|
rs758446796
|
0.00004
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met)
|
rs775349581
|
0.00004
|
NM_000383.4(AIRE):c.328C>T (p.Arg110Trp)
|
rs764029559
|
0.00004
|
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
|
rs151049459
|
0.00004
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
|
rs370599883
|
0.00004
|
NM_000383.4(AIRE):c.488C>A (p.Pro163His)
|
rs771592755
|
0.00004
|
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser)
|
rs139620961
|
0.00004
|
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro)
|
rs761025044
|
0.00004
|
NM_000383.4(AIRE):c.740G>A (p.Arg247His)
|
rs763487370
|
0.00004
|
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
|
rs202027254
|
0.00004
|
NM_000497.4(CYP11B1):c.*1435T>C
|
rs551125657
|
0.00004
|
NM_000497.4(CYP11B1):c.1122-12C>T
|
rs193922537
|
0.00004
|
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
|
rs373736765
|
0.00004
|
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)
|
rs371662064
|
0.00004
|
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)
|
rs777913851
|
0.00004
|
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)
|
rs762599130
|
0.00004
|
NM_000498.3(CYP11B2):c.*299G>A
|
rs528171695
|
0.00004
|
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=)
|
rs763197267
|
0.00004
|
NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp)
|
rs148659506
|
0.00004
|
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)
|
rs1463986346
|
0.00004
|
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)
|
rs141645920
|
0.00004
|
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys)
|
rs774989997
|
0.00004
|
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)
|
rs769090647
|
0.00004
|
NM_000529.2(MC2R):c.*1039G>A
|
rs966371778
|
0.00004
|
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln)
|
rs1208417750
|
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_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu)
|
rs779043334
|
0.00004
|
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu)
|
rs541943607
|
0.00004
|
NM_000781.3(CYP11A1):c.625+15A>G
|
rs112977174
|
0.00004
|
NM_000781.3(CYP11A1):c.829+3G>C
|
rs369873220
|
0.00004
|
NM_000890.5(KCNJ5):c.-285G>C
|
rs886048006
|
0.00004
|
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg)
|
rs773604700
|
0.00004
|
NM_001365951.3(KIF1B):c.2115+6545C>A
|
rs1299989581
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
0.00004
|
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
0.00004
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1418C>T (p.Ala473Val)
|
rs782156085
|
0.00004
|
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys)
|
rs782697310
|
0.00004
|
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser)
|
rs565343242
|
0.00004
|
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys)
|
rs782533830
|
0.00004
|
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)
|
rs1320059073
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser)
|
rs779082897
|
0.00004
|
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys)
|
rs782247167
|
0.00004
|
NM_001395413.1(POR):c.1939G>A (p.Val647Met)
|
rs148175064
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.34G>A (p.Val12Met)
|
rs369118442
|
0.00004
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
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_002734.5(PRKAR1A):c.549+20A>G
|
rs981055703
|
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_003001.4(SDHC):c.*1889T>C
|
rs746551127
|
0.00004
|
NM_003001.5(SDHC):c.*251C>T
|
rs886045480
|
0.00004
|
NM_003001.5(SDHC):c.*252G>A
|
rs1284811873
|
0.00004
|
NM_003001.5(SDHC):c.*773A>G
|
rs1000828155
|
0.00004
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)
|
rs780348130
|
0.00004
|
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)
|
rs199616806
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)
|
rs767718283
|
0.00004
|
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)
|
rs753112469
|
0.00004
|
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)
|
rs886049649
|
0.00004
|
NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)
|
rs371810618
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.496C>T (p.Arg166Cys)
|
rs968303021
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
NM_017849.4(TMEM127):c.*16C>G
|
rs1251288941
|
0.00004
|
NM_017849.4(TMEM127):c.*3049T>C
|
rs1242736942
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_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_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)
|
rs371658961
|
0.00004
|
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)
|
rs1459266876
|
0.00004
|
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys)
|
rs756550215
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys)
|
rs1040565692
|
0.00004
|
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)
|
rs1367396955
|
0.00004
|
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs)
|
rs759709148
|
0.00004
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)
|
rs367610523
|
0.00004
|
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
|
rs559573879
|
0.00004
|
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys)
|
rs375165169
|
0.00004
|
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
|
rs777617840
|
0.00004
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn)
|
rs745354512
|
0.00004
|
NM_021098.3(CACNA1H):c.3154+3G>A
|
rs374267602
|
0.00004
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg)
|
rs759262489
|
0.00004
|
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)
|
rs1002596641
|
0.00004
|
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)
|
rs758674093
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=)
|
rs747200195
|
0.00004
|
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln)
|
rs764530568
|
0.00004
|
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr)
|
rs931243903
|
0.00004
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val)
|
rs777667628
|
0.00004
|
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His)
|
rs774455553
|
0.00004
|
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln)
|
rs781126604
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His)
|
rs1458781875
|
0.00004
|
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser)
|
rs769175169
|
0.00004
|
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile)
|
rs535413428
|
0.00004
|
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser)
|
rs946594196
|
0.00004
|
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val)
|
rs371121613
|
0.00004
|
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)
|
rs747789914
|
0.00004
|
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)
|
rs372601783
|
0.00004
|
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp)
|
rs866836108
|
0.00004
|
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr)
|
rs761696834
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met)
|
rs772154386
|
0.00004
|
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)
|
rs768826048
|
0.00004
|
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile)
|
rs370867825
|
0.00004
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His)
|
rs371605781
|
0.00004
|
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)
|
rs766354453
|
0.00004
|
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
|
rs765987481
|
0.00003
|
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)
|
rs146311005
|
0.00003
|
NM_000163.5(GHR):c.1003G>A (p.Glu335Lys)
|
rs199937609
|
0.00003
|
NM_000176.3(NR3C1):c.*1509C>A
|
rs886060048
|
0.00003
|
NM_000176.3(NR3C1):c.*1957A>G
|
rs968998036
|
0.00003
|
NM_000176.3(NR3C1):c.*36G>A
|
rs761674033
|
0.00003
|
NM_000176.3(NR3C1):c.*3868C>T
|
rs941331534
|
0.00003
|
NM_000196.4(HSD11B2):c.935G>A (p.Arg312His)
|
rs766239000
|
0.00003
|
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn)
|
rs147758873
|
0.00003
|
NM_000349.3(STAR):c.312T>C (p.Asn104=)
|
rs200934871
|
0.00003
|
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)
|
rs929430876
|
0.00003
|
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
|
rs557522986
|
0.00003
|
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)
|
rs367619299
|
0.00003
|
NM_000383.4(AIRE):c.1400+7G>C
|
rs781592443
|
0.00003
|
NM_000383.4(AIRE):c.1481G>A (p.Arg494His)
|
rs528762050
|
0.00003
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe)
|
rs753236604
|
0.00003
|
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro)
|
rs767272852
|
0.00003
|
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile)
|
rs1029648118
|
0.00003
|
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
|
rs775921321
|
0.00003
|
NM_000497.4(CYP11B1):c.*1358T>C
|
rs886062734
|
0.00003
|
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)
|
rs762347776
|
0.00003
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
NM_000497.4(CYP11B1):c.595+14G>A
|
rs1208266252
|
0.00003
|
NM_000498.3(CYP11B2):c.*204C>G
|
rs773811282
|
0.00003
|
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)
|
rs1374018568
|
0.00003
|
NM_000498.3(CYP11B2):c.800-14T>C
|
rs563246146
|
0.00003
|
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)
|
rs566306310
|
0.00003
|
NM_000500.9(CYP21A2):c.293-7C>G
|
rs193922544
|
0.00003
|
NM_000500.9(CYP21A2):c.738+75C>T
|
rs1463196531
|
0.00003
|
NM_000529.2(MC2R):c.*1092G>A
|
rs886053625
|
0.00003
|
NM_000529.2(MC2R):c.*223T>C
|
rs369247895
|
0.00003
|
NM_000529.2(MC2R):c.*390A>G
|
rs749097541
|
0.00003
|
NM_000529.2(MC2R):c.*434T>C
|
rs886053647
|
0.00003
|
NM_000529.2(MC2R):c.*848A>T
|
rs766857800
|
0.00003
|
NM_000529.2(MC2R):c.*971G>C
|
rs1317072974
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
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_000781.3(CYP11A1):c.1099A>T (p.Met367Leu)
|
rs764270391
|
0.00003
|
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)
|
rs892317617
|
0.00003
|
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)
|
rs143790141
|
0.00003
|
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp)
|
rs778735978
|
0.00003
|
NM_001018077.1(NR3C1):c.-894T>C
|
rs72555799
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001370259.2(MEN1):c.*693T>C
|
rs1229690026
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser)
|
rs1204943413
|
0.00003
|
NM_001370259.2(MEN1):c.215C>A (p.Pro72His)
|
rs878856863
|
0.00003
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
0.00003
|
NM_001395413.1(POR):c.*21C>A
|
rs782245884
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp)
|
rs782197760
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.1660+5G>C
|
rs782407937
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001395413.1(POR):c.316G>A (p.Gly106Arg)
|
rs372623440
|
0.00003
|
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
|
rs782681272
|
0.00003
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
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_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
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_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
|
rs201349663
|
0.00003
|
NM_014825.3(URB1):c.*2725A>G
|
rs1001304261
|
0.00003
|
NM_015665.6(AAAS):c.307+13C>T
|
rs761242924
|
0.00003
|
NM_015665.6(AAAS):c.362C>T (p.Ala121Val)
|
rs201451157
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015665.6(AAAS):c.667G>C (p.Asp223His)
|
rs141013947
|
0.00003
|
NM_015665.6(AAAS):c.819T>C (p.Asp273=)
|
rs149487112
|
0.00003
|
NM_015665.6(AAAS):c.894C>T (p.Asp298=)
|
rs199636211
|
0.00003
|
NM_017841.4(SDHAF2):c.*476C>T
|
rs749056881
|
0.00003
|
NM_017841.4(SDHAF2):c.*58G>A
|
rs754124809
|
0.00003
|
NM_017841.4(SDHAF2):c.248G>T (p.Cys83Phe)
|
rs982336783
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_017849.4(TMEM127):c.*2503C>T
|
rs886056435
|
0.00003
|
NM_017849.4(TMEM127):c.*2563G>A
|
rs1483429634
|
0.00003
|
NM_017849.4(TMEM127):c.-242G>A
|
rs886056453
|
0.00003
|
NM_017849.4(TMEM127):c.221A>C (p.Tyr74Ser)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
NM_017849.4(TMEM127):c.288C>G (p.Ile96Met)
|
rs758726687
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_017849.4(TMEM127):c.398A>G (p.His133Arg)
|
rs587782203
|
0.00003
|
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met)
|
rs759138897
|
0.00003
|
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro)
|
rs772714957
|
0.00003
|
NM_017849.4(TMEM127):c.494A>G (p.His165Arg)
|
rs752030320
|
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_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)
|
rs760258010
|
0.00003
|
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser)
|
rs747036748
|
0.00003
|
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr)
|
rs747121461
|
0.00003
|
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met)
|
rs773952204
|
0.00003
|
NM_021098.3(CACNA1H):c.2451+4C>T
|
rs764605459
|
0.00003
|
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser)
|
rs547294711
|
0.00003
|
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys)
|
rs762653776
|
0.00003
|
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln)
|
rs748252386
|
0.00003
|
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met)
|
rs536557648
|
0.00003
|
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=)
|
rs761572907
|
0.00003
|
NM_021098.3(CACNA1H):c.2851G>A (p.Val951Met)
|
rs372479526
|
0.00003
|
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)
|
rs774136809
|
0.00003
|
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg)
|
rs748550409
|
0.00003
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)
|
rs775183925
|
0.00003
|
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala)
|
rs774661170
|
0.00003
|
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
|
rs150821225
|
0.00003
|
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)
|
rs753494538
|
0.00003
|
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu)
|
rs777795718
|
0.00003
|
NM_021098.3(CACNA1H):c.4038+5C>T
|
rs368592629
|
0.00003
|
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu)
|
rs775971172
|
0.00003
|
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
|
rs774773999
|
0.00003
|
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val)
|
rs772094785
|
0.00003
|
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp)
|
rs772769994
|
0.00003
|
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu)
|
rs1371741882
|
0.00003
|
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln)
|
rs560884609
|
0.00003
|
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp)
|
rs748925694
|
0.00003
|
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)
|
rs199669141
|
0.00003
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys)
|
rs771932368
|
0.00003
|
NM_021098.3(CACNA1H):c.5144G>A (p.Arg1715His)
|
rs371577290
|
0.00003
|
NM_021098.3(CACNA1H):c.5294C>T (p.Ala1765Val)
|
rs781759793
|
0.00003
|
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu)
|
rs774551478
|
0.00003
|
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=)
|
rs58835716
|
0.00003
|
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile)
|
rs748947682
|
0.00003
|
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn)
|
rs949519905
|
0.00003
|
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys)
|
rs777952986
|
0.00003
|
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr)
|
rs369917102
|
0.00003
|
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg)
|
rs779925007
|
0.00003
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu)
|
rs780870706
|
0.00003
|
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
|
rs375586314
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr)
|
rs1231529131
|
0.00003
|
NM_198407.2(GHSR):c.*1554C>T
|
rs754352155
|
0.00003
|
NM_000033.4(ABCD1):c.*450T>A
|
rs1479983733
|
0.00002
|
NM_000033.4(ABCD1):c.-10C>T
|
rs782754717
|
0.00002
|
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly)
|
rs1557054156
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)
|
rs782065134
|
0.00002
|
NM_000033.4(ABCD1):c.199A>G (p.Met67Val)
|
rs1057114018
|
0.00002
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys)
|
rs1557052334
|
0.00002
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
0.00002
|
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=)
|
rs767962487
|
0.00002
|
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His)
|
rs746480412
|
0.00002
|
NM_000176.3(NR3C1):c.*2875T>C
|
rs1421087791
|
0.00002
|
NM_000176.3(NR3C1):c.*293A>C
|
rs1396658562
|
0.00002
|
NM_000176.3(NR3C1):c.*3466T>C
|
rs886060037
|
0.00002
|
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)
|
rs199919404
|
0.00002
|
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg)
|
rs587669956
|
0.00002
|
NM_000349.3(STAR):c.411C>T (p.Leu137=)
|
rs368559257
|
0.00002
|
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
|
rs1331812230
|
0.00002
|
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu)
|
rs758891043
|
0.00002
|
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu)
|
rs754391375
|
0.00002
|
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp)
|
rs921069738
|
0.00002
|
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)
|
rs753878067
|
0.00002
|
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)
|
rs373383785
|
0.00002
|
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
|
rs779510704
|
0.00002
|
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)
|
rs201602355
|
0.00002
|
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys)
|
rs1416029492
|
0.00002
|
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr)
|
rs746154390
|
0.00002
|
NM_000497.4(CYP11B1):c.*1622C>T
|
rs543935807
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln)
|
rs200559974
|
0.00002
|
NM_000498.3(CYP11B2):c.*1047C>T
|
rs886062739
|
0.00002
|
NM_000498.3(CYP11B2):c.*746G>A
|
rs570202161
|
0.00002
|
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys)
|
rs562670189
|
0.00002
|
NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)
|
rs770281644
|
0.00002
|
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)
|
rs779683417
|
0.00002
|
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=)
|
rs577489337
|
0.00002
|
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)
|
rs779486718
|
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_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)
|
rs754816201
|
0.00002
|
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)
|
rs745968243
|
0.00002
|
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)
|
rs781011854
|
0.00002
|
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)
|
rs749202931
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys)
|
rs777592481
|
0.00002
|
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu)
|
rs758865477
|
0.00002
|
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys)
|
rs779080006
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)
|
rs759337318
|
0.00002
|
NM_001370259.2(MEN1):c.1185+4A>G
|
rs863224809
|
0.00002
|
NM_001370259.2(MEN1):c.1185+5A>G
|
rs748700116
|
0.00002
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser)
|
rs1941510179
|
0.00002
|
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)
|
rs752747097
|
0.00002
|
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)
|
rs998337367
|
0.00002
|
NM_001370259.2(MEN1):c.352G>A (p.Val118Met)
|
rs1060499975
|
0.00002
|
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp)
|
rs1046929915
|
0.00002
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
NM_001395413.1(POR):c.-14+9T>C
|
rs1401114101
|
0.00002
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001395413.1(POR):c.1973C>T (p.Ala658Val)
|
rs782753228
|
0.00002
|
NM_001395413.1(POR):c.460G>A (p.Asp154Asn)
|
rs782422122
|
0.00002
|
NM_001395413.1(POR):c.572G>A (p.Arg191Gln)
|
rs769916309
|
0.00002
|
NM_001395413.1(POR):c.772G>A (p.Val258Met)
|
rs1371752607
|
0.00002
|
NM_001395413.1(POR):c.892C>T (p.Arg298Cys)
|
rs200097755
|
0.00002
|
NM_001395413.1(POR):c.893G>A (p.Arg298His)
|
rs782125318
|
0.00002
|
NM_001395413.1(POR):c.938G>C (p.Arg313Thr)
|
rs782572970
|
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_002382.5(MAX):c.403G>A (p.Asp135Asn)
|
rs201312694
|
0.00002
|
NM_002382.5(MAX):c.415G>A (p.Asp139Asn)
|
rs772397458
|
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_003001.5(SDHC):c.*20T>G
|
rs587778662
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003002.4(SDHD):c.*302A>G
|
rs201163059
|
0.00002
|
NM_003002.4(SDHD):c.*71C>A
|
rs886047700
|
0.00002
|
NM_003002.4(SDHD):c.*93A>G
|
rs201879236
|
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.228C>T (p.Leu76=)
|
rs148634289
|
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_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)
|
rs184790106
|
0.00002
|
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)
|
rs781034991
|
0.00002
|
NM_006440.5(TXNRD2):c.417del (p.Asn140fs)
|
rs780054798
|
0.00002
|
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)
|
rs568570865
|
0.00002
|
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)
|
rs1251641134
|
0.00002
|
NM_015665.6(AAAS):c.663C>G (p.Thr221=)
|
rs886049650
|
0.00002
|
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)
|
rs779681475
|
0.00002
|
NM_017841.4(SDHAF2):c.*446C>G
|
rs886048421
|
0.00002
|
NM_017841.4(SDHAF2):c.133A>G (p.Lys45Glu)
|
rs368945911
|
0.00002
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
NM_017841.4(SDHAF2):c.427T>A (p.Phe143Ile)
|
rs755233768
|
0.00002
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
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.19G>A (p.Ala7Thr)
|
rs1390402715
|
0.00002
|
NM_017849.4(TMEM127):c.253A>G (p.Met85Val)
|
rs771261665
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.410-6T>G
|
rs765971817
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_017849.4(TMEM127):c.615G>C (p.Glu205Asp)
|
rs1434849865
|
0.00002
|
NM_017849.4(TMEM127):c.620C>T (p.Ala207Val)
|
rs751044006
|
0.00002
|
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)
|
rs780992481
|
0.00002
|
NM_017849.4(TMEM127):c.80C>T (p.Pro27Leu)
|
rs983504110
|
0.00002
|
NM_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.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_021098.3(CACNA1H):c.1120-3C>T
|
rs559931034
|
0.00002
|
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile)
|
rs748551891
|
0.00002
|
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
|
rs757893642
|
0.00002
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)
|
rs774313309
|
0.00002
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
0.00002
|
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)
|
rs119454949
|
0.00002
|
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=)
|
rs1348188346
|
0.00002
|
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val)
|
rs1482408749
|
0.00002
|
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His)
|
rs1356449722
|
0.00002
|
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly)
|
rs1035103368
|
0.00002
|
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val)
|
rs1471872554
|
0.00002
|
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn)
|
rs751635916
|
0.00002
|
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala)
|
rs776860363
|
0.00002
|
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met)
|
rs769872866
|
0.00002
|
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)
|
rs977157885
|
0.00002
|
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met)
|
rs1437402680
|
0.00002
|
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)
|
rs369475886
|
0.00002
|
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)
|
rs375742212
|
0.00002
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
NM_021098.3(CACNA1H):c.3845+7C>T
|
rs371494399
|
0.00002
|
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys)
|
rs541678072
|
0.00002
|
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)
|
rs761199543
|
0.00002
|
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
|
rs776740325
|
0.00002
|
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val)
|
rs775456399
|
0.00002
|
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser)
|
rs368825972
|
0.00002
|
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe)
|
rs746834232
|
0.00002
|
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val)
|
rs371030255
|
0.00002
|
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)
|
rs1263557227
|
0.00002
|
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met)
|
rs778002223
|
0.00002
|
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln)
|
rs541249511
|
0.00002
|
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His)
|
rs760412982
|
0.00002
|
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys)
|
rs1315448028
|
0.00002
|
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val)
|
rs371096587
|
0.00002
|
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser)
|
rs759088401
|
0.00002
|
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met)
|
rs779872782
|
0.00002
|
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His)
|
rs3889063
|
0.00002
|
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe)
|
rs369220355
|
0.00002
|
NM_021098.3(CACNA1H):c.5795A>C (p.Tyr1932Ser)
|
rs917012995
|
0.00002
|
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile)
|
rs766939282
|
0.00002
|
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg)
|
rs563954985
|
0.00002
|
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)
|
rs372118811
|
0.00002
|
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His)
|
rs752385455
|
0.00002
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
0.00002
|
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
|
rs754398374
|
0.00002
|
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=)
|
rs770681199
|
0.00002
|
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
|
rs761083620
|
0.00002
|
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp)
|
rs770202267
|
0.00002
|
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)
|
rs778943919
|
0.00002
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)
|
rs372848579
|
0.00002
|
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)
|
rs774565789
|
0.00002
|
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)
|
rs377665479
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_178817.4(MRAP):c.-156C>T
|
rs886057001
|
0.00002
|
NM_178817.4(MRAP):c.-157G>A
|
rs886057000
|
0.00002
|
NM_000033.4(ABCD1):c.*287G>A
|
rs1169661425
|
0.00001
|
NM_000033.4(ABCD1):c.*360C>T
|
rs1281220823
|
0.00001
|
NM_000033.4(ABCD1):c.*530G>A
|
rs67211405
|
0.00001
|
NM_000033.4(ABCD1):c.*621C>T
|
rs1383766741
|
0.00001
|
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser)
|
rs1205548762
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met)
|
rs782706738
|
0.00001
|
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)
|
rs782740513
|
0.00001
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys)
|
rs1557055441
|
0.00001
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser)
|
rs1290462360
|
0.00001
|
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala)
|
rs782138372
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
|
rs1557052459
|
0.00001
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val)
|
rs868992338
|
0.00001
|
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
|
rs2091712106
|
0.00001
|
NM_000102.4(CYP17A1):c.*130C>T
|
rs886046665
|
0.00001
|
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)
|
rs370973897
|
0.00001
|
NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val)
|
rs773015145
|
0.00001
|
NM_000163.5(GHR):c.497G>A (p.Gly166Glu)
|
rs761856079
|
0.00001
|
NM_000176.3(NR3C1):c.*1466T>C
|
rs1812917346
|
0.00001
|
NM_000176.3(NR3C1):c.*1941A>C
|
rs1239987236
|
0.00001
|
NM_000176.3(NR3C1):c.*2367C>T
|
rs568718223
|
0.00001
|
NM_000176.3(NR3C1):c.*2370G>A
|
rs753145816
|
0.00001
|
NM_000176.3(NR3C1):c.*2567A>G
|
rs886060044
|
0.00001
|
NM_000176.3(NR3C1):c.*2873G>A
|
rs886060042
|
0.00001
|
NM_000176.3(NR3C1):c.*3046G>C
|
rs886060041
|
0.00001
|
NM_000176.3(NR3C1):c.*3685C>G
|
rs10482715
|
0.00001
|
NM_000176.3(NR3C1):c.*3846G>A
|
rs1365619187
|
0.00001
|
NM_000176.3(NR3C1):c.*752A>G
|
rs869125609
|
0.00001
|
NM_000176.3(NR3C1):c.*988T>C
|
rs773208301
|
0.00001
|
NM_000176.3(NR3C1):c.1039C>G (p.Gln347Glu)
|
rs148470701
|
0.00001
|
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg)
|
rs751136795
|
0.00001
|
NM_000176.3(NR3C1):c.309A>T (p.Gly103=)
|
rs779300133
|
0.00001
|
NM_000176.3(NR3C1):c.850A>G (p.Ile284Val)
|
rs766200119
|
0.00001
|
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)
|
rs121917780
|
0.00001
|
NM_000198.4(HSD3B2):c.*411T>C
|
rs1651940686
|
0.00001
|
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
|
rs147383167
|
0.00001
|
NM_000198.4(HSD3B2):c.308-14C>A
|
rs750286630
|
0.00001
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=)
|
rs886045197
|
0.00001
|
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
|
rs929360018
|
0.00001
|
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=)
|
rs116728039
|
0.00001
|
NM_000349.2(STAR):c.-152G>A
|
rs1196346446
|
0.00001
|
NM_000349.3(STAR):c.*550A>C
|
rs1236012022
|
0.00001
|
NM_000349.3(STAR):c.792G>A (p.Gln264=)
|
rs1358166887
|
0.00001
|
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly)
|
rs919219488
|
0.00001
|
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr)
|
rs1405678537
|
0.00001
|
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser)
|
rs1405678537
|
0.00001
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser)
|
rs200540137
|
0.00001
|
NM_000383.4(AIRE):c.1095+5G>T
|
rs1057522692
|
0.00001
|
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)
|
rs1014398252
|
0.00001
|
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly)
|
rs758775963
|
0.00001
|
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu)
|
rs145243072
|
0.00001
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln)
|
rs867495755
|
0.00001
|
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr)
|
rs1340047804
|
0.00001
|
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu)
|
rs769719554
|
0.00001
|
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala)
|
rs751963717
|
0.00001
|
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)
|
rs752398254
|
0.00001
|
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser)
|
rs199621393
|
0.00001
|
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp)
|
rs1208287091
|
0.00001
|
NM_000383.4(AIRE):c.1278+6C>T
|
rs372612211
|
0.00001
|
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu)
|
rs751271727
|
0.00001
|
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr)
|
rs1296392334
|
0.00001
|
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val)
|
rs531220961
|
0.00001
|
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
|
rs979048802
|
0.00001
|
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg)
|
rs957681340
|
0.00001
|
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys)
|
rs750662701
|
0.00001
|
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu)
|
rs754217318
|
0.00001
|
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg)
|
rs749111202
|
0.00001
|
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys)
|
rs1465595959
|
0.00001
|
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu)
|
rs1189029187
|
0.00001
|
NM_000383.4(AIRE):c.1520A>T (p.His507Leu)
|
rs373920616
|
0.00001
|
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val)
|
rs376731017
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg)
|
rs777675955
|
0.00001
|
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
|
rs772511282
|
0.00001
|
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr)
|
rs755258600
|
0.00001
|
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr)
|
rs771314896
|
0.00001
|
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp)
|
rs1036995518
|
0.00001
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
NM_000383.4(AIRE):c.538+3G>A
|
rs557176517
|
0.00001
|
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala)
|
rs1185406745
|
0.00001
|
NM_000383.4(AIRE):c.653-9T>A
|
rs941927668
|
0.00001
|
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn)
|
rs975525470
|
0.00001
|
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
|
rs775896896
|
0.00001
|
NM_000383.4(AIRE):c.798+5G>A
|
rs1490186498
|
0.00001
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr)
|
rs778148534
|
0.00001
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
|
rs375819189
|
0.00001
|
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys)
|
rs763636007
|
0.00001
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_000497.4(CYP11B1):c.*1313C>T
|
rs973876982
|
0.00001
|
NM_000497.4(CYP11B1):c.*1476G>C
|
rs1325854085
|
0.00001
|
NM_000497.4(CYP11B1):c.*245C>G
|
rs538608688
|
0.00001
|
NM_000497.4(CYP11B1):c.*495C>T
|
rs886062736
|
0.00001
|
NM_000497.4(CYP11B1):c.*607C>T
|
rs1816856226
|
0.00001
|
NM_000497.4(CYP11B1):c.*901G>A
|
rs748103274
|
0.00001
|
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)
|
rs755448048
|
0.00001
|
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=)
|
rs754660381
|
0.00001
|
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)
|
rs1412048304
|
0.00001
|
NM_000497.4(CYP11B1):c.1200+11C>T
|
rs753651666
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)
|
rs747287245
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)
|
rs1817062027
|
0.00001
|
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)
|
rs772733691
|
0.00001
|
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg)
|
rs757389720
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)
|
rs748180875
|
0.00001
|
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)
|
rs751047685
|
0.00001
|
NM_000498.3(CYP11B2):c.*1277G>A
|
rs745532151
|
0.00001
|
NM_000498.3(CYP11B2):c.*431A>C
|
rs886062742
|
0.00001
|
NM_000498.3(CYP11B2):c.*613C>T
|
rs61757284
|
0.00001
|
NM_000498.3(CYP11B2):c.*759A>T
|
rs1035340238
|
0.00001
|
NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met)
|
rs753988592
|
0.00001
|
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr)
|
rs746708275
|
0.00001
|
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)
|
rs1817560561
|
0.00001
|
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln)
|
rs776680043
|
0.00001
|
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)
|
rs1311444460
|
0.00001
|
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)
|
rs747248100
|
0.00001
|
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr)
|
rs372556807
|
0.00001
|
NM_000498.3(CYP11B2):c.395+10G>A
|
rs193166276
|
0.00001
|
NM_000498.3(CYP11B2):c.39G>A (p.Ala13=)
|
rs754286042
|
0.00001
|
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)
|
rs768685630
|
0.00001
|
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)
|
rs763373087
|
0.00001
|
NM_000498.3(CYP11B2):c.954+7C>T
|
rs772188358
|
0.00001
|
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)
|
rs574370139
|
0.00001
|
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly)
|
rs1436972952
|
0.00001
|
NM_000500.9(CYP21A2):c.293-131_293-129dup
|
rs1219292422
|
0.00001
|
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)
|
rs371412889
|
0.00001
|
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly)
|
rs1229809778
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000529.2(MC2R):c.*1856T>C
|
rs935635102
|
0.00001
|
NM_000529.2(MC2R):c.*2409A>G
|
rs893851558
|
0.00001
|
NM_000529.2(MC2R):c.*2427T>C
|
rs2045235792
|
0.00001
|
NM_000529.2(MC2R):c.*27C>T
|
rs886053650
|
0.00001
|
NM_000529.2(MC2R):c.*608A>G
|
rs886053645
|
0.00001
|
NM_000529.2(MC2R):c.*791A>G
|
rs754283731
|
0.00001
|
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr)
|
rs764887426
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.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_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser)
|
rs748390637
|
0.00001
|
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys)
|
rs573648284
|
0.00001
|
NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg)
|
rs772561154
|
0.00001
|
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile)
|
rs111361716
|
0.00001
|
NM_000890.5(KCNJ5):c.*1024A>G
|
rs886048018
|
0.00001
|
NM_000890.5(KCNJ5):c.*284G>A
|
rs1423304633
|
0.00001
|
NM_000890.5(KCNJ5):c.*650C>T
|
rs77985687
|
0.00001
|
NM_000890.5(KCNJ5):c.-145C>T
|
rs1460747444
|
0.00001
|
NM_000890.5(KCNJ5):c.-253G>T
|
rs886048009
|
0.00001
|
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)
|
rs766058202
|
0.00001
|
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)
|
rs185412918
|
0.00001
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)
|
rs781022847
|
0.00001
|
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn)
|
rs752310426
|
0.00001
|
NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly)
|
rs753651100
|
0.00001
|
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)
|
rs771161358
|
0.00001
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)
|
rs746522890
|
0.00001
|
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)
|
rs772877248
|
0.00001
|
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)
|
rs746240972
|
0.00001
|
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)
|
rs886048010
|
0.00001
|
NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln)
|
rs1418258797
|
0.00001
|
NM_001018077.1(NR3C1):c.-531G>A
|
rs1462093593
|
0.00001
|
NM_001018077.1(NR3C1):c.-741T>C
|
rs1295470136
|
0.00001
|
NM_001018077.1(NR3C1):c.-753G>A
|
rs528693258
|
0.00001
|
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His)
|
rs752232472
|
0.00001
|
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala)
|
rs935163999
|
0.00001
|
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val)
|
rs2094940956
|
0.00001
|
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val)
|
rs775056182
|
0.00001
|
NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr)
|
rs146540139
|
0.00001
|
NM_001128840.3(CACNA1D):c.4924-6A>G
|
rs1475661078
|
0.00001
|
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg)
|
rs1176833638
|
0.00001
|
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala)
|
rs145573139
|
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_001370259.2(MEN1):c.*104C>T
|
rs886048477
|
0.00001
|
NM_001370259.2(MEN1):c.*400G>A
|
rs1351825181
|
0.00001
|
NM_001370259.2(MEN1):c.*89G>A
|
rs886048478
|
0.00001
|
NM_001370259.2(MEN1):c.1004G>A (p.Arg335Gln)
|
rs764998893
|
0.00001
|
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)
|
rs377715802
|
0.00001
|
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg)
|
rs371503251
|
0.00001
|
NM_001370259.2(MEN1):c.1136C>A (p.Ala379Glu)
|
rs1592640172
|
0.00001
|
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)
|
rs1225964479
|
0.00001
|
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)
|
rs761360623
|
0.00001
|
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)
|
rs773978650
|
0.00001
|
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr)
|
rs934222398
|
0.00001
|
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr)
|
rs746135199
|
0.00001
|
NM_001370259.2(MEN1):c.1226G>A (p.Cys409Tyr)
|
rs1060499988
|
0.00001
|
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr)
|
rs757179911
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)
|
rs775922507
|
0.00001
|
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln)
|
rs200035619
|
0.00001
|
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)
|
rs748102589
|
0.00001
|
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)
|
rs1352053477
|
0.00001
|
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser)
|
rs1565638021
|
0.00001
|
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser)
|
rs587778440
|
0.00001
|
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)
|
rs1060499993
|
0.00001
|
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala)
|
rs771842369
|
0.00001
|
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)
|
rs1060499994
|
0.00001
|
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu)
|
rs1060499983
|
0.00001
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
NM_001370259.2(MEN1):c.1589A>C (p.Glu530Ala)
|
rs1565636654
|
0.00001
|
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg)
|
rs762867287
|
0.00001
|
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile)
|
rs751839903
|
0.00001
|
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)
|
rs1411766225
|
0.00001
|
NM_001370259.2(MEN1):c.178G>C (p.Glu60Gln)
|
rs1174208039
|
0.00001
|
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)
|
rs1366457977
|
0.00001
|
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)
|
rs137880635
|
0.00001
|
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)
|
rs150308912
|
0.00001
|
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu)
|
rs1238113583
|
0.00001
|
NM_001370259.2(MEN1):c.275G>A (p.Arg92His)
|
rs375628323
|
0.00001
|
NM_001370259.2(MEN1):c.322C>G (p.Arg108Gly)
|
rs794728647
|
0.00001
|
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln)
|
rs1565651551
|
0.00001
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys)
|
rs1060499992
|
0.00001
|
NM_001370259.2(MEN1):c.446-3C>A
|
rs377461506
|
0.00001
|
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val)
|
rs794728617
|
0.00001
|
NM_001370259.2(MEN1):c.476T>C (p.Phe159Ser)
|
rs1555165861
|
0.00001
|
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala)
|
rs748648909
|
0.00001
|
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn)
|
rs1399824473
|
0.00001
|
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly)
|
rs1157581823
|
0.00001
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val)
|
rs1064794683
|
0.00001
|
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser)
|
rs1209606579
|
0.00001
|
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)
|
rs1555165742
|
0.00001
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys)
|
rs1392579402
|
0.00001
|
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser)
|
rs1438685841
|
0.00001
|
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)
|
rs781493730
|
0.00001
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)
|
rs760289964
|
0.00001
|
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala)
|
rs1175283759
|
0.00001
|
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val)
|
rs1462138625
|
0.00001
|
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)
|
rs368619946
|
0.00001
|
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)
|
rs1397110438
|
0.00001
|
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp)
|
rs139936447
|
0.00001
|
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys)
|
rs377403837
|
0.00001
|
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys)
|
rs1565644005
|
0.00001
|
NM_001379228.1(MRAP):c.126C>T (p.Phe42=)
|
rs769898813
|
0.00001
|
NM_001395413.1(POR):c.1033G>A (p.Val345Ile)
|
rs373128937
|
0.00001
|
NM_001395413.1(POR):c.103G>A (p.Val35Met)
|
rs782469484
|
0.00001
|
NM_001395413.1(POR):c.1057+3G>A
|
rs1247013812
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala)
|
rs781842238
|
0.00001
|
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu)
|
rs1419019194
|
0.00001
|
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr)
|
rs72557936
|
0.00001
|
NM_001395413.1(POR):c.1526T>C (p.Val509Ala)
|
rs1789403650
|
0.00001
|
NM_001395413.1(POR):c.1585A>G (p.Ile529Val)
|
rs886062442
|
0.00001
|
NM_001395413.1(POR):c.160T>C (p.Phe54Leu)
|
rs782711779
|
0.00001
|
NM_001395413.1(POR):c.163A>G (p.Thr55Ala)
|
rs781793249
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp)
|
rs868927799
|
0.00001
|
NM_001395413.1(POR):c.182C>T (p.Thr61Ile)
|
rs868909994
|
0.00001
|
NM_001395413.1(POR):c.1959G>T (p.Met653Ile)
|
rs377283521
|
0.00001
|
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)
|
rs371420725
|
0.00001
|
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr)
|
rs782588164
|
0.00001
|
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys)
|
rs1047228872
|
0.00001
|
NM_001395413.1(POR):c.301G>A (p.Asp101Asn)
|
rs958254199
|
0.00001
|
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr)
|
rs1003447223
|
0.00001
|
NM_001395413.1(POR):c.754G>A (p.Asp252Asn)
|
rs41299514
|
0.00001
|
NM_001395413.1(POR):c.764C>T (p.Ala255Val)
|
rs367782552
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.821C>T (p.Pro274Leu)
|
rs369749344
|
0.00001
|
NM_001395413.1(POR):c.938+3A>G
|
rs782232516
|
0.00001
|
NM_001395413.1(POR):c.967T>C (p.Tyr323His)
|
rs782419727
|
0.00001
|
NM_001756.4(SERPINA6):c.539G>A (p.Gly180Glu)
|
rs769978145
|
0.00001
|
NM_002382.5(MAX):c.*1285T>C
|
rs886050628
|
0.00001
|
NM_002382.5(MAX):c.133A>G (p.Ser45Gly)
|
rs780865640
|
0.00001
|
NM_002382.5(MAX):c.140G>A (p.Arg47Gln)
|
rs2063580413
|
0.00001
|
NM_002382.5(MAX):c.14A>G (p.Asp5Gly)
|
rs150113270
|
0.00001
|
NM_002382.5(MAX):c.298C>T (p.Arg100Cys)
|
rs762084527
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.314C>T (p.Ala105Val)
|
rs769051095
|
0.00001
|
NM_002382.5(MAX):c.331C>G (p.Leu111Val)
|
rs748675729
|
0.00001
|
NM_002382.5(MAX):c.332T>G (p.Leu111Arg)
|
rs1477107672
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.346C>G (p.Pro116Ala)
|
rs1186625283
|
0.00001
|
NM_002382.5(MAX):c.349T>G (p.Ser117Ala)
|
rs1483314784
|
0.00001
|
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
|
rs779789251
|
0.00001
|
NM_002382.5(MAX):c.405T>A (p.Asp135Glu)
|
rs1354621995
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.41A>G (p.Glu14Gly)
|
rs876660888
|
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_002382.5(MAX):c.475G>A (p.Ala159Thr)
|
rs779958074
|
0.00001
|
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)
|
rs760033566
|
0.00001
|
NM_003000.2(SDHB):c.-135G>A
|
rs886045587
|
0.00001
|
NM_003000.2(SDHB):c.-142A>G
|
rs886045588
|
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_003001.4(SDHC):c.*2020A>G
|
rs949093129
|
0.00001
|
NM_003001.4(SDHC):c.*2274G>A
|
rs886045497
|
0.00001
|
NM_003001.4(SDHC):c.*870G>C
|
rs1260571554
|
0.00001
|
NM_003001.5(SDHC):c.*174G>A
|
rs886045479
|
0.00001
|
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
NM_003001.5(SDHC):c.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
0.00001
|
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003002.4(SDHD):c.*587A>G
|
rs886047701
|
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_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
NM_004168.4(SDHA):c.896-11G>T
|
rs774043076
|
0.00001
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His)
|
rs1303886490
|
0.00001
|
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)
|
rs755134167
|
0.00001
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)
|
rs750437487
|
0.00001
|
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
|
rs1382726525
|
0.00001
|
NM_014825.3(URB1):c.*2741C>T
|
rs1601112595
|
0.00001
|
NM_014825.3(URB1):c.*2908A>T
|
rs201141721
|
0.00001
|
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)
|
rs886049652
|
0.00001
|
NM_015665.6(AAAS):c.1229G>A (p.Arg410His)
|
rs768786904
|
0.00001
|
NM_015665.6(AAAS):c.124-4A>G
|
rs886049651
|
0.00001
|
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)
|
rs751369041
|
0.00001
|
NM_015665.6(AAAS):c.1417-14T>G
|
rs748004231
|
0.00001
|
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)
|
rs751967235
|
0.00001
|
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)
|
rs1944356188
|
0.00001
|
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)
|
rs1745022731
|
0.00001
|
NM_015665.6(AAAS):c.981A>G (p.Leu327=)
|
rs1174765635
|
0.00001
|
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)
|
rs560069464
|
0.00001
|
NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile)
|
rs1307070302
|
0.00001
|
NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe)
|
rs1323431801
|
0.00001
|
NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro)
|
rs756779426
|
0.00001
|
NM_017841.4(SDHAF2):c.*233C>T
|
rs886048419
|
0.00001
|
NM_017841.4(SDHAF2):c.*389C>T
|
rs886048420
|
0.00001
|
NM_017841.4(SDHAF2):c.106A>G (p.Arg36Gly)
|
rs1413272315
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.121A>G (p.Thr41Ala)
|
rs1455092335
|
0.00001
|
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)
|
rs749431351
|
0.00001
|
NM_017841.4(SDHAF2):c.146A>G (p.Glu49Gly)
|
rs1295134579
|
0.00001
|
NM_017841.4(SDHAF2):c.157C>T (p.Pro53Ser)
|
rs1060503390
|
0.00001
|
NM_017841.4(SDHAF2):c.169G>A (p.Glu57Lys)
|
rs759556749
|
0.00001
|
NM_017841.4(SDHAF2):c.175A>G (p.Thr59Ala)
|
rs1193598313
|
0.00001
|
NM_017841.4(SDHAF2):c.187A>G (p.Ile63Val)
|
rs1184440065
|
0.00001
|
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile)
|
rs752462796
|
0.00001
|
NM_017841.4(SDHAF2):c.215A>G (p.Tyr72Cys)
|
rs1440188833
|
0.00001
|
NM_017841.4(SDHAF2):c.230G>C (p.Arg77Thr)
|
rs755511528
|
0.00001
|
NM_017841.4(SDHAF2):c.253C>A (p.Leu85Ile)
|
rs1300112394
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.265T>C (p.Phe89Leu)
|
rs746968831
|
0.00001
|
NM_017841.4(SDHAF2):c.26C>T (p.Thr9Ile)
|
rs552102107
|
0.00001
|
NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr)
|
rs755605816
|
0.00001
|
NM_017841.4(SDHAF2):c.28T>A (p.Ser10Thr)
|
rs1861838801
|
0.00001
|
NM_017841.4(SDHAF2):c.2T>C (p.Met1Thr)
|
rs1060503392
|
0.00001
|
NM_017841.4(SDHAF2):c.314A>G (p.Tyr105Cys)
|
rs1402726087
|
0.00001
|
NM_017841.4(SDHAF2):c.337A>G (p.Ser113Gly)
|
rs780194184
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)
|
rs876658350
|
0.00001
|
NM_017841.4(SDHAF2):c.350A>G (p.Asp117Gly)
|
rs151040226
|
0.00001
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
NM_017841.4(SDHAF2):c.370+3A>G
|
rs773940746
|
0.00001
|
NM_017841.4(SDHAF2):c.370G>A (p.Glu124Lys)
|
rs1237175697
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017841.4(SDHAF2):c.37A>G (p.Met13Val)
|
rs1361460244
|
0.00001
|
NM_017841.4(SDHAF2):c.40C>T (p.Leu14Phe)
|
rs1273048863
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.415C>A (p.Leu139Met)
|
rs1565130851
|
0.00001
|
NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu)
|
rs370174263
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.460C>T (p.Arg154Cys)
|
rs778585796
|
0.00001
|
NM_017841.4(SDHAF2):c.461G>A (p.Arg154His)
|
rs768954974
|
0.00001
|
NM_017841.4(SDHAF2):c.469G>T (p.Asp157Tyr)
|
rs1862133511
|
0.00001
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
NM_017841.4(SDHAF2):c.80G>A (p.Ser27Asn)
|
rs759472787
|
0.00001
|
NM_017841.4(SDHAF2):c.8T>C (p.Val3Ala)
|
rs760006057
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
NM_017849.4(TMEM127):c.*1784C>T
|
rs571939749
|
0.00001
|
NM_017849.4(TMEM127):c.*179C>T
|
rs932134479
|
0.00001
|
NM_017849.4(TMEM127):c.*1822T>C
|
rs144880727
|
0.00001
|
NM_017849.4(TMEM127):c.*2245A>G
|
rs886056438
|
0.00001
|
NM_017849.4(TMEM127):c.*2299C>T
|
rs896902158
|
0.00001
|
NM_017849.4(TMEM127):c.*2445G>T
|
rs886056436
|
0.00001
|
NM_017849.4(TMEM127):c.*2518C>A
|
rs1181236784
|
0.00001
|
NM_017849.4(TMEM127):c.*2760A>C
|
rs886056431
|
0.00001
|
NM_017849.4(TMEM127):c.*2911C>T
|
rs1461511429
|
0.00001
|
NM_017849.4(TMEM127):c.*3391G>A
|
rs1260000636
|
0.00001
|
NM_017849.4(TMEM127):c.*340G>A
|
rs1032246352
|
0.00001
|
NM_017849.4(TMEM127):c.*3568C>G
|
rs886056427
|
0.00001
|
NM_017849.4(TMEM127):c.-196C>T
|
rs886056451
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
0.00001
|
NM_017849.4(TMEM127):c.12C>T (p.Pro4=)
|
rs1406470818
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.143T>C (p.Leu48Pro)
|
rs1219876266
|
0.00001
|
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)
|
rs1573977765
|
0.00001
|
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser)
|
rs767257269
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.192G>C (p.Gln64His)
|
rs1684389208
|
0.00001
|
NM_017849.4(TMEM127):c.197T>C (p.Leu66Pro)
|
rs1249787183
|
0.00001
|
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)
|
rs1424733983
|
0.00001
|
NM_017849.4(TMEM127):c.20C>T (p.Ala7Val)
|
rs1357430519
|
0.00001
|
NM_017849.4(TMEM127):c.211G>A (p.Val71Met)
|
rs142947571
|
0.00001
|
NM_017849.4(TMEM127):c.229C>T (p.Pro77Ser)
|
rs1390685113
|
0.00001
|
NM_017849.4(TMEM127):c.230C>T (p.Pro77Leu)
|
rs368949257
|
0.00001
|
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala)
|
rs761101636
|
0.00001
|
NM_017849.4(TMEM127):c.28C>T (p.Pro10Ser)
|
rs1161858061
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro)
|
rs766918841
|
0.00001
|
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro)
|
rs761032675
|
0.00001
|
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)
|
rs767739392
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.377C>T (p.Thr126Ile)
|
rs775944671
|
0.00001
|
NM_017849.4(TMEM127):c.380G>A (p.Arg127His)
|
rs777665433
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.419G>T (p.Cys140Phe)
|
rs121908828
|
0.00001
|
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro)
|
rs936034324
|
0.00001
|
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro)
|
rs964860224
|
0.00001
|
NM_017849.4(TMEM127):c.462C>G (p.Ile154Met)
|
rs987656498
|
0.00001
|
NM_017849.4(TMEM127):c.46A>G (p.Arg16Gly)
|
rs767737615
|
0.00001
|
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg)
|
rs745947594
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.520G>A (p.Ala174Thr)
|
rs753594901
|
0.00001
|
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile)
|
rs149034651
|
0.00001
|
NM_017849.4(TMEM127):c.545G>A (p.Gly182Glu)
|
rs761885719
|
0.00001
|
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro)
|
rs764012422
|
0.00001
|
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)
|
rs762657413
|
0.00001
|
NM_017849.4(TMEM127):c.56G>T (p.Gly19Val)
|
rs1331019402
|
0.00001
|
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)
|
rs140860906
|
0.00001
|
NM_017849.4(TMEM127):c.58G>A (p.Gly20Ser)
|
rs1343615968
|
0.00001
|
NM_017849.4(TMEM127):c.590G>A (p.Arg197His)
|
rs1231066976
|
0.00001
|
NM_017849.4(TMEM127):c.5A>G (p.Tyr2Cys)
|
rs1368865164
|
0.00001
|
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr)
|
rs756818796
|
0.00001
|
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)
|
rs1348645128
|
0.00001
|
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)
|
rs1239484250
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His)
|
rs1684141729
|
0.00001
|
NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu)
|
rs144326855
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_017849.4(TMEM127):c.693G>C (p.Gln231His)
|
rs755351925
|
0.00001
|
NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr)
|
rs1184921725
|
0.00001
|
NM_017849.4(TMEM127):c.71C>G (p.Pro24Arg)
|
rs1231130879
|
0.00001
|
NM_017849.4(TMEM127):c.8C>T (p.Ala3Val)
|
rs1553437754
|
0.00001
|
NM_017849.4(TMEM127):c.95C>T (p.Ala32Val)
|
rs1459156138
|
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_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys)
|
rs757422637
|
0.00001
|
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu)
|
rs1383967941
|
0.00001
|
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val)
|
rs751513581
|
0.00001
|
NM_021098.3(CACNA1H):c.1245G>A (p.Leu415=)
|
rs1399878445
|
0.00001
|
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys)
|
rs746748953
|
0.00001
|
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala)
|
rs1555498163
|
0.00001
|
NM_021098.3(CACNA1H):c.1457G>T (p.Trp486Leu)
|
rs1967973162
|
0.00001
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln)
|
rs777448598
|
0.00001
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr)
|
rs61747577
|
0.00001
|
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu)
|
rs1428939766
|
0.00001
|
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser)
|
rs750987846
|
0.00001
|
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg)
|
rs566589497
|
0.00001
|
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
|
rs1596270983
|
0.00001
|
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile)
|
rs1030011973
|
0.00001
|
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val)
|
rs747987613
|
0.00001
|
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg)
|
rs1466381514
|
0.00001
|
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile)
|
rs1567519932
|
0.00001
|
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
|
rs757946905
|
0.00001
|
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu)
|
rs540638287
|
0.00001
|
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met)
|
rs1473122688
|
0.00001
|
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys)
|
rs183042575
|
0.00001
|
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=)
|
rs777762276
|
0.00001
|
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val)
|
rs1216897674
|
0.00001
|
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val)
|
rs781441262
|
0.00001
|
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val)
|
rs772602372
|
0.00001
|
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=)
|
rs572841580
|
0.00001
|
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp)
|
rs760796226
|
0.00001
|
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala)
|
rs1051410307
|
0.00001
|
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn)
|
rs1386150404
|
0.00001
|
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val)
|
rs906645609
|
0.00001
|
NM_021098.3(CACNA1H):c.2603+3G>A
|
rs773966897
|
0.00001
|
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val)
|
rs770827490
|
0.00001
|
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His)
|
rs763861676
|
0.00001
|
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys)
|
rs1446439397
|
0.00001
|
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys)
|
rs1047092055
|
0.00001
|
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser)
|
rs1336532564
|
0.00001
|
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)
|
rs779011503
|
0.00001
|
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His)
|
rs1057520721
|
0.00001
|
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser)
|
rs769647241
|
0.00001
|
NM_021098.3(CACNA1H):c.2817C>T (p.Cys939=)
|
rs1336280254
|
0.00001
|
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr)
|
rs1012165881
|
0.00001
|
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met)
|
rs1489760070
|
0.00001
|
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys)
|
rs1266233731
|
0.00001
|
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser)
|
rs1968852331
|
0.00001
|
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met)
|
rs376957651
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-19T>A
|
rs1322960336
|
0.00001
|
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)
|
rs575176246
|
0.00001
|
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys)
|
rs970648879
|
0.00001
|
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=)
|
rs1044744061
|
0.00001
|
NM_021098.3(CACNA1H):c.3154+5G>A
|
rs764360814
|
0.00001
|
NM_021098.3(CACNA1H):c.3170C>T (p.Ser1057Phe)
|
rs1435560643
|
0.00001
|
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter)
|
rs780350191
|
0.00001
|
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val)
|
rs1238128692
|
0.00001
|
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr)
|
rs373102061
|
0.00001
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg)
|
rs1431381776
|
0.00001
|
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His)
|
rs772040768
|
0.00001
|
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=)
|
rs1244188050
|
0.00001
|
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys)
|
rs766406727
|
0.00001
|
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
|
rs778186545
|
0.00001
|
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys)
|
rs761063520
|
0.00001
|
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)
|
rs1399681066
|
0.00001
|
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln)
|
rs201931839
|
0.00001
|
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn)
|
rs771215852
|
0.00001
|
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn)
|
rs768716174
|
0.00001
|
NM_021098.3(CACNA1H):c.3744+1G>A
|
rs770718464
|
0.00001
|
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp)
|
rs751642419
|
0.00001
|
NM_021098.3(CACNA1H):c.3885G>A (p.Met1295Ile)
|
rs1410255453
|
0.00001
|
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe)
|
rs1969297546
|
0.00001
|
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala)
|
rs1043239667
|
0.00001
|
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
|
rs1172795132
|
0.00001
|
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala)
|
rs1373335448
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+4C>T
|
rs1207045890
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+6G>A
|
rs112068805
|
0.00001
|
NM_021098.3(CACNA1H):c.4061C>T (p.Ser1354Phe)
|
rs754994425
|
0.00001
|
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)
|
rs747715176
|
0.00001
|
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
|
rs772929276
|
0.00001
|
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr)
|
rs764727820
|
0.00001
|
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)
|
rs867556563
|
0.00001
|
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu)
|
rs372465607
|
0.00001
|
NM_021098.3(CACNA1H):c.4154C>T (p.Ser1385Leu)
|
rs773333921
|
0.00001
|
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=)
|
rs535299188
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys)
|
rs374596109
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+5G>A
|
rs776869097
|
0.00001
|
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe)
|
rs776156272
|
0.00001
|
NM_021098.3(CACNA1H):c.4303C>T (p.Leu1435Phe)
|
rs762016050
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+3G>A
|
rs1969415717
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+6T>C
|
rs367545564
|
0.00001
|
NM_021098.3(CACNA1H):c.4376G>T (p.Cys1459Phe)
|
rs1403664698
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu)
|
rs536269517
|
0.00001
|
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met)
|
rs758872935
|
0.00001
|
NM_021098.3(CACNA1H):c.4566+4C>T
|
rs199968897
|
0.00001
|
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile)
|
rs745495784
|
0.00001
|
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr)
|
rs1195869438
|
0.00001
|
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln)
|
rs538666649
|
0.00001
|
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg)
|
rs748978718
|
0.00001
|
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp)
|
rs58725680
|
0.00001
|
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln)
|
rs1343159534
|
0.00001
|
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys)
|
rs777159526
|
0.00001
|
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His)
|
rs774569737
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-2A>G
|
rs1468821137
|
0.00001
|
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)
|
rs761945003
|
0.00001
|
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr)
|
rs776165690
|
0.00001
|
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile)
|
rs1015123563
|
0.00001
|
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser)
|
rs1381765830
|
0.00001
|
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr)
|
rs577258290
|
0.00001
|
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp)
|
rs1217478571
|
0.00001
|
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu)
|
rs766396848
|
0.00001
|
NM_021098.3(CACNA1H):c.4929+5G>A
|
rs1054400971
|
0.00001
|
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu)
|
rs745902196
|
0.00001
|
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu)
|
rs751816236
|
0.00001
|
NM_021098.3(CACNA1H):c.5059G>A (p.Ala1687Thr)
|
rs374276829
|
0.00001
|
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met)
|
rs754276994
|
0.00001
|
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met)
|
rs556827361
|
0.00001
|
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys)
|
rs545768453
|
0.00001
|
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His)
|
rs375691821
|
0.00001
|
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met)
|
rs768128693
|
0.00001
|
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys)
|
rs771688999
|
0.00001
|
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His)
|
rs1025818671
|
0.00001
|
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met)
|
rs764098313
|
0.00001
|
NM_021098.3(CACNA1H):c.5267T>C (p.Phe1756Ser)
|
rs767973097
|
0.00001
|
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys)
|
rs767277197
|
0.00001
|
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=)
|
rs776172409
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-10C>G
|
rs1184041228
|
0.00001
|
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys)
|
rs768988866
|
0.00001
|
NM_021098.3(CACNA1H):c.547A>C (p.Met183Leu)
|
rs763029586
|
0.00001
|
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg)
|
rs1970204449
|
0.00001
|
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val)
|
rs773943668
|
0.00001
|
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val)
|
rs369689966
|
0.00001
|
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val)
|
rs139080716
|
0.00001
|
NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg)
|
rs1196939283
|
0.00001
|
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)
|
rs754166849
|
0.00001
|
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
|
rs1175867441
|
0.00001
|
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
|
rs769441475
|
0.00001
|
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp)
|
rs772374857
|
0.00001
|
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
|
rs921830082
|
0.00001
|
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)
|
rs1312406661
|
0.00001
|
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu)
|
rs1483742539
|
0.00001
|
NM_021098.3(CACNA1H):c.6064G>A (p.Asp2022Asn)
|
rs372375376
|
0.00001
|
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val)
|
rs1387716276
|
0.00001
|
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)
|
rs1199118621
|
0.00001
|
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys)
|
rs758461760
|
0.00001
|
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg)
|
rs541001877
|
0.00001
|
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr)
|
rs570207081
|
0.00001
|
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys)
|
rs778743259
|
0.00001
|
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile)
|
rs756344458
|
0.00001
|
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val)
|
rs778892614
|
0.00001
|
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp)
|
rs772416042
|
0.00001
|
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln)
|
rs776993441
|
0.00001
|
NM_021098.3(CACNA1H):c.6422A>G (p.Gln2141Arg)
|
rs772532983
|
0.00001
|
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala)
|
rs1348390859
|
0.00001
|
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser)
|
rs746807446
|
0.00001
|
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys)
|
rs1456584884
|
0.00001
|
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr)
|
rs1264293762
|
0.00001
|
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp)
|
rs764354954
|
0.00001
|
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg)
|
rs899655295
|
0.00001
|
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His)
|
rs554435610
|
0.00001
|
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu)
|
rs766207096
|
0.00001
|
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala)
|
rs1970426309
|
0.00001
|
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg)
|
rs771028729
|
0.00001
|
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)
|
rs753077813
|
0.00001
|
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp)
|
rs1201268826
|
0.00001
|
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
|
rs1418372954
|
0.00001
|
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val)
|
rs776274017
|
0.00001
|
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser)
|
rs774687054
|
0.00001
|
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser)
|
rs751311855
|
0.00001
|
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
|
rs1240507435
|
0.00001
|
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)
|
rs119454948
|
0.00001
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)
|
rs1443348691
|
0.00001
|
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr)
|
rs1967689942
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)
|
rs57740463
|
0.00001
|
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)
|
rs758039020
|
0.00001
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(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.(?_160816880)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000002.11:g.(?_218999525)_(220435954_?)dup
|
|
|
NC_000002.11:g.(?_96919536)_(96931129_?)dup
|
|
|
NC_000002.11:g.(?_96919540)_(96931125_?)dup
|
|
|
NC_000002.11:g.(?_96930856)_(96931119_?)dup
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)dup
|
|
|
NC_000002.12:g.(?_96265128)_(96265399_?)dup
|
|
|
NC_000007.14:g.75915138G>C
|
rs535395573
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_61437615)_(61446071_?)dup
|
|
|
NC_000011.10:g.(?_64804334)_(64810716_?)dup
|
|
|
NC_000011.10:g.(?_64809655)_(64810716_?)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
|
|
|
NC_000011.9:g.(?_61197619)_(61205595_?)dup
|
|
|
NC_000011.9:g.(?_61197619)_(61213543_?)dup
|
|
|
NC_000011.9:g.(?_61205087)_(61205595_?)del
|
|
|
NC_000011.9:g.(?_61205087)_(61213553_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65544764_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65560543_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65569057_?)dup
|
|
|
NC_000014.8:g.(?_65568254)_(65569057_?)dup
|
|
|
NC_000014.9:g.(?_65076466)_(65102349_?)dup
|
|
|
NC_000016.10:g.(?_1194952)_(1221014_?)dup
|
|
|
NC_000016.10:g.(?_1214952)_(1221014_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1204056_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1260155_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1246043_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1256309_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1244962)_(1260981_?)dup
|
|
|
NC_000016.9:g.(?_1244962)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1248595)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1248605)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1251643)_(1255285_?)del
|
|
|
NC_000016.9:g.(?_1264952)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_256302)_(1843653_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2153916_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_765584)_(1204036_?)del
|
|
|
NC_000021.8:g.(?_45629566)_(46330717_?)dup
|
|
|
NC_000021.8:g.(?_45709520)_(45759077_?)dup
|
|
|
NC_000021.8:g.(?_45713652)_(45717630_?)dup
|
|
|
NC_000021.8:g.(?_45717519)_(45717610_?)dup
|
|
|
NC_000021.9:g.(?_44297636)_(44297747_?)dup
|
|
|
NC_000023.10:g.(?_152014869)_(153363122_?)dup
|
|
|
NC_000023.10:g.(?_152990712)_(153009199_?)dup
|
|
|
NC_000023.10:g.(?_153001546)_(154563736_?)dup
|
|
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
NM_000033.4(ABCD1):c.*10C>T
|
rs1057515814
|
|
NM_000033.4(ABCD1):c.*12C>T
|
rs1413638807
|
|
NM_000033.4(ABCD1):c.*196C>G
|
rs367591611
|
|
NM_000033.4(ABCD1):c.*208G>C
|
rs193922092
|
|
NM_000033.4(ABCD1):c.*259A>G
|
rs374092960
|
|
NM_000033.4(ABCD1):c.*334C>G
|
rs1252368354
|
|
NM_000033.4(ABCD1):c.*409C>G
|
rs2091778411
|
|
NM_000033.4(ABCD1):c.*476A>G
|
rs372234126
|
|
NM_000033.4(ABCD1):c.*481G>T
|
rs199942817
|
|
NM_000033.4(ABCD1):c.*548GAGAGGG[1]
|
rs1057515816
|
|
NM_000033.4(ABCD1):c.*564G>A
|
rs782819878
|
|
NM_000033.4(ABCD1):c.*795C>T
|
rs1057515817
|
|
NM_000033.4(ABCD1):c.*802G>T
|
rs879957599
|
|
NM_000033.4(ABCD1):c.*805G>C
|
rs879979866
|
|
NM_000033.4(ABCD1):c.*825C>T
|
rs1557055736
|
|
NM_000033.4(ABCD1):c.*830A>G
|
rs1557055737
|
|
NM_000033.4(ABCD1):c.*831G>T
|
rs879964075
|
|
NM_000033.4(ABCD1):c.*870G>T
|
rs72616452
|
|
NM_000033.4(ABCD1):c.*901G>A
|
rs75637470
|
|
NM_000033.4(ABCD1):c.*911G>A
|
rs2091780866
|
|
NM_000033.4(ABCD1):c.*948C>T
|
rs112109783
|
|
NM_000033.4(ABCD1):c.*969A>G
|
rs1557055778
|
|
NM_000033.4(ABCD1):c.*980T>C
|
rs1557055787
|
|
NM_000033.4(ABCD1):c.-342G>A
|
rs912340339
|
|
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
|
rs2091726692
|
|
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
|
|
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
|
|
|
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
|
|
|
NM_000033.4(ABCD1):c.1081+5G>T
|
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000033.4(ABCD1):c.1082-12G>A
|
rs2148395344
|
|
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
|
|
|
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)
|
rs782627940
|
|
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
|
|
|
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
|
|
|
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg)
|
rs2148395416
|
|
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
|
rs1205548762
|
|
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
|
rs1603234474
|
|
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
|
rs2091749101
|
|
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
|
|
|
NM_000033.4(ABCD1):c.1174C>G (p.Leu392Val)
|
|
|
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro)
|
rs1557054176
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
|
rs2091749296
|
|
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
|
|
|
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del)
|
rs2148395492
|
|
NM_000033.4(ABCD1):c.1224+4C>T
|
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala)
|
rs2091749822
|
|
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
|
|
|
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu)
|
rs2091749942
|
|
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
|
|
|
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp)
|
rs2148395625
|
|
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp)
|
rs2091750125
|
|
NM_000033.4(ABCD1):c.1394-3C>G
|
|
|
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
|
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
|
|
|
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
|
|
|
NM_000033.4(ABCD1):c.1488+5G>C
|
rs2091753189
|
|
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
|
|
|
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
|
|
|
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
|
|
|
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
|
|
|
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr)
|
rs1557054740
|
|
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
|
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
|
|
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)
|
rs2091762306
|
|
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
|
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)
|
|
|
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe)
|
rs2148397623
|
|
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)
|
rs1569541092
|
|
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
|
rs782440686
|
|
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
|
|
|
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys)
|
rs2148397662
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1635-3C>G
|
rs2148397866
|
|
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
|
rs201054474
|
|
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile)
|
rs1569541112
|
|
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys)
|
rs2148397892
|
|
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)
|
rs2148397896
|
|
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
|
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
|
|
|
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
|
rs2091764450
|
|
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
|
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn)
|
rs2091764566
|
|
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
|
|
|
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
|
|
|
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)
|
rs2091764661
|
|
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
|
|
|
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del)
|
rs1557054859
|
|
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
|
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
NM_000033.4(ABCD1):c.1780+5_1780+6insT
|
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
|
|
|
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)
|
rs2091772324
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
|
|
|
NM_000033.4(ABCD1):c.1866-15G>A
|
|
|
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
|
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
|
|
|
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
|
|
|
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
|
|
|
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)
|
rs1557055332
|
|
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
|
rs1557055332
|
|
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)
|
rs1557055333
|
|
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
|
rs2091773987
|
|
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)
|
rs2091774003
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala)
|
rs2148399309
|
|
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr)
|
rs2091774102
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro)
|
rs2148399322
|
|
NM_000033.4(ABCD1):c.1991+3A>G
|
|
|
NM_000033.4(ABCD1):c.1991+68_1992-4del
|
rs1603236039
|
|
NM_000033.4(ABCD1):c.1992-2A>C
|
rs797044626
|
|
NM_000033.4(ABCD1):c.1992-2A>G
|
rs797044626
|
|
NM_000033.4(ABCD1):c.1992-6G>A
|
|
|
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser)
|
rs2091775035
|
|
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
|
rs2091775035
|
|
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln)
|
rs2148399466
|
|
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
|
|
|
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
|
|
|
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
|
|
|
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
|
|
|
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
|
|
|
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
|
|
|
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
|
|
|
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
|
|
|
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)
|
rs2091775448
|
|
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
|
rs782311214
|
|
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
|
|
|
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
|
|
|
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
|
|
|
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)
|
rs1557055447
|
|
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
|
|
|
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
|
|
|
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
|
|
|
NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
|
|
|
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
|
|
|
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
|
rs1603236153
|
|
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
|
rs2091776291
|
|
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp)
|
rs1603236168
|
|
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
|
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
|
rs2091702555
|
|
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
|
|
|
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
|
|
|
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
|
|
|
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
|
rs868977355
|
|
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
|
|
|
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
|
rs782221851
|
|
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu)
|
rs782221851
|
|
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del)
|
rs2091704899
|
|
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp)
|
rs2148388871
|
|
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
|
rs2091705016
|
|
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
|
|
|
NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
|
|
|
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
|
rs1557052298
|
|
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
|
|
|
NM_000033.4(ABCD1):c.304G>A (p.Val102Met)
|
rs2148388959
|
|
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
|
rs782122122
|
|
NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
|
|
|
NM_000033.4(ABCD1):c.338G>A (p.Arg113His)
|
rs1322406234
|
|
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
|
|
|
NM_000033.4(ABCD1):c.431C>T (p.Ala144Val)
|
|
|
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)
|
rs1292006620
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp)
|
rs2091707109
|
|
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
|
|
|
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
|
rs2091707324
|
|
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
|
rs2148389278
|
|
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
|
|
|
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
|
|
|
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
|
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.526T>A (p.Ser176Thr)
|
|
|
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
|
rs2091708007
|
|
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
|
|
|
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
|
rs2091708150
|
|
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser)
|
rs1557052401
|
|
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
|
rs1603232005
|
|
NM_000033.4(ABCD1):c.562G>T (p.Gly188Trp)
|
|
|
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
|
rs2091708552
|
|
NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)
|
|
|
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
|
|
|
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
|
|
|
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
|
rs1569540705
|
|
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu)
|
rs782724538
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
|
rs782567718
|
|
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe)
|
rs782567718
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
|
rs1603232050
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.671T>G (p.Val224Gly)
|
rs2148389598
|
|
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
|
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
|
|
|
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
|
rs1557052478
|
|
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)
|
rs782723557
|
|
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
|
|
|
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
|
|
|
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
|
|
|
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
|
|
|
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
|
|
|
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
|
|
|
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
|
|
|
NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
|
|
|
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro)
|
rs1569540731
|
|
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
|
|
|
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
|
|
|
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
|
rs1603232171
|
|
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
|
|
|
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
|
rs2091711117
|
|
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
|
|
|
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
|
rs2091711183
|
|
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser)
|
rs1324272283
|
|
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu)
|
rs868992338
|
|
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
|
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
|
|
|
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
|
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
|
NM_000033.4(ABCD1):c.900+2T>G
|
rs2091712381
|
|
NM_000033.4(ABCD1):c.900+7C>T
|
rs2091712393
|
|
NM_000033.4(ABCD1):c.901-5C>A
|
rs782603062
|
|
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro)
|
rs781978255
|
|
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
|
rs2091726449
|
|
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
|
rs2091726463
|
|
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)
|
rs879952582
|
|
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
|
|
|
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
|
|
|
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro)
|
rs148904415
|
|
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile)
|
rs2148391987
|
|
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly)
|
rs2148391989
|
|
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
|
|
|
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
|
rs1603233113
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)
|
|
|
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
|
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser)
|
|
|
NM_000102.4(CYP17A1):c.*165dup
|
rs45455494
|
|
NM_000102.4(CYP17A1):c.*67C>A
|
rs886046666
|
|
NM_000102.4(CYP17A1):c.-30dup
|
rs886046667
|
|
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)
|
rs752346898
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)
|
rs772903405
|
|
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)
|
|
|
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val)
|
rs138630127
|
|
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)
|
rs746813353
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)
|
rs539435111
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met)
|
rs931528592
|
|
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn)
|
rs370973897
|
|
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
|
|
|
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=)
|
rs1844146929
|
|
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)
|
rs1485258085
|
|
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
|
rs202092158
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
NM_000163.5(GHR):c.-12+643G>A
|
rs1742761582
|
|
NM_000163.5(GHR):c.484G>T (p.Val162Phe)
|
rs6413484
|
|
NM_000176.3(NR3C1):c.*101dup
|
rs776865643
|
|
NM_000176.3(NR3C1):c.*1055T>A
|
rs886060051
|
|
NM_000176.3(NR3C1):c.*1087_*1088dup
|
rs886060050
|
|
NM_000176.3(NR3C1):c.*1241C>T
|
rs768128384
|
|
NM_000176.3(NR3C1):c.*1245_*1248dup
|
rs10482710
|
|
NM_000176.3(NR3C1):c.*134G>A
|
rs72466429
|
|
NM_000176.3(NR3C1):c.*1407A>G
|
rs886060049
|
|
NM_000176.3(NR3C1):c.*1492A>G
|
rs1812914163
|
|
NM_000176.3(NR3C1):c.*149T>C
|
rs886060059
|
|
NM_000176.3(NR3C1):c.*1589A>G
|
rs886060047
|
|
NM_000176.3(NR3C1):c.*2031C>T
|
rs369162225
|
|
NM_000176.3(NR3C1):c.*2151A>C
|
rs746282402
|
|
NM_000176.3(NR3C1):c.*2521T>A
|
rs886060045
|
|
NM_000176.3(NR3C1):c.*2601A>T
|
rs886060043
|
|
NM_000176.3(NR3C1):c.*2621T>G
|
rs906319040
|
|
NM_000176.3(NR3C1):c.*2947T>G
|
rs555242390
|
|
NM_000176.3(NR3C1):c.*3077G>A
|
rs886060040
|
|
NM_000176.3(NR3C1):c.*3259G>A
|
rs1812677304
|
|
NM_000176.3(NR3C1):c.*3378G>A
|
rs1368015567
|
|
NM_000176.3(NR3C1):c.*3431G>C
|
rs886060038
|
|
NM_000176.3(NR3C1):c.*3759dup
|
rs772052566
|
|
NM_000176.3(NR3C1):c.*401dup
|
rs886060058
|
|
NM_000176.3(NR3C1):c.*409del
|
rs10482707
|
|
NM_000176.3(NR3C1):c.*409dup
|
rs10482707
|
|
NM_000176.3(NR3C1):c.*534T>C
|
rs924124147
|
|
NM_000176.3(NR3C1):c.*750del
|
rs886060055
|
|
NM_000176.3(NR3C1):c.*766_*769dup
|
rs34248080
|
|
NM_000176.3(NR3C1):c.*768_*769dup
|
rs34248080
|
|
NM_000176.3(NR3C1):c.*769dup
|
rs34248080
|
|
NM_000176.3(NR3C1):c.*834_*837dup
|
rs886060053
|
|
NM_000176.3(NR3C1):c.*861_*868del
|
rs547184962
|
|
NM_000176.3(NR3C1):c.*946T>G
|
rs886060052
|
|
NM_000176.3(NR3C1):c.1018T>G (p.Ser340Ala)
|
rs1839917064
|
|
NM_000176.3(NR3C1):c.1489A>G (p.Ile497Val)
|
rs1818325449
|
|
NM_000176.3(NR3C1):c.2114A>G (p.Glu705Gly)
|
|
|
NM_000176.3(NR3C1):c.2282T>C (p.Ile761Thr)
|
rs2151472803
|
|
NM_000176.3(NR3C1):c.2307C>G (p.Ile769Met)
|
rs886060060
|
|
NM_000176.3(NR3C1):c.289G>A (p.Val97Met)
|
rs886060062
|
|
NM_000176.3(NR3C1):c.641G>A (p.Arg214Lys)
|
|
|
NM_000176.3(NR3C1):c.66_68delinsAAA (p.Arg23Lys)
|
rs2151942107
|
|
NM_000176.3(NR3C1):c.946A>T (p.Met316Leu)
|
rs1839935044
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)
|
rs28934593
|
|
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs)
|
rs1567529174
|
|
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala)
|
rs1356598056
|
|
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del)
|
rs794726669
|
|
NM_000196.4(HSD11B2):c.512A>G (p.Asn171Ser)
|
|
|
NM_000196.4(HSD11B2):c.536T>C (p.Leu179Pro)
|
|
|
NM_000196.4(HSD11B2):c.586G>A (p.Ala196Thr)
|
|
|
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val)
|
rs1309642469
|
|
NM_000196.4(HSD11B2):c.745G>A (p.Glu249Lys)
|
|
|
NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal)
|
rs1567530910
|
|
NM_000198.4(HSD3B2):c.*9T>A
|
rs1651924447
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)
|
|
|
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
|
|
|
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp)
|
rs886045196
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)
|
|
|
NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)
|
|
|
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
|
|
|
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg)
|
rs771688849
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000349.2(STAR):c.-249C>A
|
rs886062906
|
|
NM_000349.3(STAR):c.*1384del
|
rs886062898
|
|
NM_000349.3(STAR):c.*348C>T
|
rs886062904
|
|
NM_000349.3(STAR):c.*556A>G
|
rs886062903
|
|
NM_000349.3(STAR):c.*768G>A
|
rs1802503995
|
|
NM_000349.3(STAR):c.*796A>G
|
rs886062902
|
|
NM_000349.3(STAR):c.*948del
|
rs886062900
|
|
NM_000349.3(STAR):c.*965_*967dup
|
rs11326306
|
|
NM_000349.3(STAR):c.-16C>T
|
rs779983468
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)
|
rs1554503018
|
|
NM_000349.3(STAR):c.157C>G (p.Arg53Gly)
|
rs550388651
|
|
NM_000349.3(STAR):c.158G>C (p.Arg53Pro)
|
rs529036391
|
|
NM_000349.3(STAR):c.161G>T (p.Arg54Leu)
|
rs200245763
|
|
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)
|
rs146872295
|
|
NM_000349.3(STAR):c.466-11T>A
|
rs1053284504
|
|
NM_000349.3(STAR):c.484A>C (p.Lys162Gln)
|
rs886062905
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
|
|
|
NM_000349.3(STAR):c.814C>G (p.Arg272Gly)
|
|
|
NM_000383.3(AIRE):c.-653_-649dup
|
rs1555871683
|
|
NM_000383.3(AIRE):c.-656_-655insCCC
|
rs1016179869
|
|
NM_000383.4(AIRE):c.-24_1del (p.Met1fs)
|
rs1555871766
|
|
NM_000383.4(AIRE):c.-4C>A
|
rs1004208577
|
|
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
|
|
|
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
|
|
|
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
|
|
|
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
|
|
|
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
|
|
|
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg)
|
rs1013117342
|
|
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly)
|
rs149078622
|
|
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
|
|
|
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
|
|
|
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del)
|
rs1481102287
|
|
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup)
|
rs1481102287
|
|
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del)
|
rs1555872876
|
|
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del)
|
rs1555872881
|
|
NM_000383.4(AIRE):c.1084G>A (p.Val362Met)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
|
|
|
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
|
|
|
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn)
|
rs757362732
|
|
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
|
|
|
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile)
|
rs757362732
|
|
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
|
|
|
NM_000383.4(AIRE):c.1095+23_1095+64del
|
rs1037154559
|
|
NM_000383.4(AIRE):c.1095+4T>G
|
|
|
NM_000383.4(AIRE):c.1095G>A (p.Pro365=)
|
rs750688330
|
|
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
|
|
|
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala)
|
rs768381413
|
|
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
|
|
|
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
|
|
|
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
|
|
|
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
|
|
|
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu)
|
rs1469479088
|
|
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
|
|
|
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
|
|
|
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
|
|
|
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys)
|
rs763440543
|
|
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
|
|
|
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp)
|
rs2040560125
|
|
NM_000383.4(AIRE):c.11A>T (p.Asp4Val)
|
rs2146375006
|
|
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
|
|
|
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
|
|
|
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
|
|
|
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg)
|
rs2146383548
|
|
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
|
|
|
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile)
|
rs1248107084
|
|
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr)
|
rs756933733
|
|
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe)
|
rs756933733
|
|
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
|
|
|
NM_000383.4(AIRE):c.1278+5dup
|
rs2146383693
|
|
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
|
|
|
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
|
|
|
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
|
|
|
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
|
|
|
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
|
|
|
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala)
|
rs768250058
|
|
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
|
|
|
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly)
|
rs1555873106
|
|
NM_000383.4(AIRE):c.1344C>G (p.His448Gln)
|
rs201131119
|
|
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
|
|
|
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr)
|
rs1480139411
|
|
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000383.4(AIRE):c.136A>T (p.Thr46Ser)
|
rs2146375707
|
|
NM_000383.4(AIRE):c.1373A>G (p.His458Arg)
|
rs1601969955
|
|
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
|
|
|
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
|
|
|
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
|
|
|
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
|
|
|
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
|
|
|
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser)
|
rs1411629170
|
|
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
|
|
|
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu)
|
rs2146375021
|
|
NM_000383.4(AIRE):c.1400+4A>C
|
rs2040574937
|
|
NM_000383.4(AIRE):c.1400+6T>A
|
|
|
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
|
|
|
NM_000383.4(AIRE):c.1401-10T>G
|
|
|
NM_000383.4(AIRE):c.1401-5T>G
|
|
|
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
|
|
|
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
|
|
|
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
|
|
|
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
|
|
|
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr)
|
rs750662701
|
|
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
|
|
|
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
|
|
|
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
|
|
|
NM_000383.4(AIRE):c.143_145del (p.His48del)
|
rs1601964364
|
|
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr)
|
rs780816581
|
|
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
|
|
|
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg)
|
rs2146385840
|
|
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
|
|
|
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
|
|
|
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val)
|
rs2146385893
|
|
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
|
|
|
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
|
|
|
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
|
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
|
|
|
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu)
|
rs528762050
|
|
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
|
|
|
NM_000383.4(AIRE):c.1504-818G>A
|
rs181779633
|
|
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)
|
rs1444691231
|
|
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
|
|
|
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser)
|
rs999281375
|
|
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
|
|
|
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
|
|
|
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
|
|
|
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
|
|
|
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
|
|
|
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)
|
rs746873146
|
|
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
|
|
|
NM_000383.4(AIRE):c.1566+15G>A
|
rs2040609241
|
|
NM_000383.4(AIRE):c.1566+4A>G
|
|
|
NM_000383.4(AIRE):c.1566+5C>T
|
|
|
NM_000383.4(AIRE):c.1566+6G>A
|
|
|
NM_000383.4(AIRE):c.1567-1G>A
|
rs1601973101
|
|
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
|
|
|
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter)
|
rs1472708073
|
|
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
|
|
|
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg)
|
rs2146389859
|
|
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
|
|
|
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
|
|
|
NM_000383.4(AIRE):c.1612del (p.Arg538fs)
|
rs1555873662
|
|
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
|
|
|
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
|
|
|
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
|
|
|
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)
|
rs1568932096
|
|
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu)
|
rs2040484477
|
|
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
|
|
|
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
|
|
|
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
|
|
|
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
|
|
|
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
|
|
|
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
|
|
|
NM_000383.4(AIRE):c.266G>A (p.Arg89His)
|
rs762267080
|
|
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
|
|
|
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
|
|
|
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu)
|
rs2146375950
|
|
NM_000383.4(AIRE):c.308-18C>T
|
|
|
NM_000383.4(AIRE):c.308-3C>T
|
|
|
NM_000383.4(AIRE):c.308-6C>T
|
|
|
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
|
|
|
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
|
|
|
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
|
|
|
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
|
|
|
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
|
|
|
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
|
|
|
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro)
|
rs201965760
|
|
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
|
|
|
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
|
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
|
|
|
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
|
|
|
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
|
|
|
NM_000383.4(AIRE):c.463+5C>A
|
|
|
NM_000383.4(AIRE):c.463+5C>T
|
rs569224551
|
|
NM_000383.4(AIRE):c.463+6C>G
|
rs2146376456
|
|
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
|
|
|
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup)
|
rs2040477781
|
|
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro)
|
rs2040495001
|
|
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
|
|
|
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr)
|
rs1568926733
|
|
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
|
|
|
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
|
|
|
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
|
|
|
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
|
|
|
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
|
|
|
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
|
|
|
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly)
|
rs752687905
|
|
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro)
|
rs972262344
|
|
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu)
|
rs375658223
|
|
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
|
|
|
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp)
|
rs2146377706
|
|
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro)
|
rs2040502920
|
|
NM_000383.4(AIRE):c.550A>G (p.Met184Val)
|
rs2146377723
|
|
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
|
|
|
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr)
|
rs1555871798
|
|
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
|
|
|
NM_000383.4(AIRE):c.581T>C (p.Met194Thr)
|
rs1351412367
|
|
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
|
|
|
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
|
|
|
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu)
|
rs1029475010
|
|
NM_000383.4(AIRE):c.640G>A (p.Val214Met)
|
rs369232026
|
|
NM_000383.4(AIRE):c.652+6C>T
|
|
|
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp)
|
rs2146379169
|
|
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly)
|
rs2040478254
|
|
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
|
|
|
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
|
|
|
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr)
|
rs2146379236
|
|
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
|
|
|
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu)
|
rs2040517102
|
|
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
|
|
|
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
|
|
|
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
|
|
|
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
|
|
|
NM_000383.4(AIRE):c.766G>A (p.Val256Ile)
|
rs753558091
|
|
NM_000383.4(AIRE):c.773C>G (p.Ala258Gly)
|
rs1388835954
|
|
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg)
|
rs2040517979
|
|
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser)
|
rs1568927979
|
|
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
|
|
|
NM_000383.4(AIRE):c.831C>T (p.Gly277=)
|
rs1180944731
|
|
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr)
|
rs1311252316
|
|
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
|
|
|
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
|
|
|
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn)
|
rs2040534355
|
|
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp)
|
rs868756561
|
|
NM_000383.4(AIRE):c.899C>T (p.Ala300Val)
|
rs868756561
|
|
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
|
|
|
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
|
|
|
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)
|
rs754932526
|
|
NM_000383.4(AIRE):c.925A>G (p.Ile309Val)
|
rs936714310
|
|
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
|
|
|
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
|
|
|
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
|
|
|
NM_000383.4(AIRE):c.996-14G>A
|
|
|
NM_000383.4(AIRE):c.999G>T (p.Gly333=)
|
rs1445602810
|
|
NM_000455.5(STK11):c.749C>T (p.Thr250Met)
|
rs876661238
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
|
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro)
|
rs2147006470
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
NM_000497.4(CYP11B1):c.*1012A>C
|
rs1816847260
|
|
NM_000497.4(CYP11B1):c.*1164G>A
|
rs886062735
|
|
NM_000497.4(CYP11B1):c.*1253G>T
|
rs1816842907
|
|
NM_000497.4(CYP11B1):c.*1296A>G
|
rs1816841780
|
|
NM_000497.4(CYP11B1):c.*1511C>T
|
rs1033272486
|
|
NM_000497.4(CYP11B1):c.*1550C>T
|
rs1425377435
|
|
NM_000497.4(CYP11B1):c.*1590G>C
|
rs886062733
|
|
NM_000497.4(CYP11B1):c.*1623G>C
|
rs997960869
|
|
NM_000497.4(CYP11B1):c.*1770A>T
|
rs369448045
|
|
NM_000497.4(CYP11B1):c.*1929A>C
|
rs201626683
|
|
NM_000497.4(CYP11B1):c.*1944G>A
|
rs1816825330
|
|
NM_000497.4(CYP11B1):c.*1979G>A
|
rs1039347990
|
|
NM_000497.4(CYP11B1):c.*244C>T
|
rs1816862781
|
|
NM_000497.4(CYP11B1):c.*317T>C
|
rs567623158
|
|
NM_000497.4(CYP11B1):c.*390A>G
|
rs558749828
|
|
NM_000497.4(CYP11B1):c.*400C>T
|
rs61752801
|
|
NM_000497.4(CYP11B1):c.*485C>G
|
rs886062737
|
|
NM_000497.4(CYP11B1):c.*516A>T
|
rs5301
|
|
NM_000497.4(CYP11B1):c.*596C>A
|
rs1816856315
|
|
NM_000497.4(CYP11B1):c.*848C>T
|
rs149520110
|
|
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)
|
rs193922535
|
|
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys)
|
rs1554652796
|
|
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)
|
rs368944209
|
|
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)
|
rs4541
|
|
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)
|
rs886062738
|
|
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)
|
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)
|
rs2130266058
|
|
NM_000497.4(CYP11B1):c.1399-14G>A
|
rs5295
|
|
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)
|
rs1554652528
|
|
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)
|
rs776766470
|
|
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala)
|
rs1554653718
|
|
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)
|
rs770400476
|
|
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)
|
rs377423817
|
|
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
|
|
|
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro)
|
rs1554653200
|
|
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)
|
rs778556211
|
|
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)
|
rs1554653191
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)
|
rs535861895
|
|
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)
|
rs146105017
|
|
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)
|
rs61751154
|
|
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)
|
|
|
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)
|
rs368125568
|
|
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)
|
rs1554653044
|
|
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)
|
rs1816964007
|
|
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)
|
|
|
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)
|
rs753471858
|
|
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr)
|
rs1816963218
|
|
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)
|
|
|
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)
|
rs202091168
|
|
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)
|
rs751843934
|
|
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)
|
|
|
NM_000497.4(CYP11B1):c.954+31G>A
|
rs2130272862
|
|
NM_000497.4(CYP11B1):c.954+9G>C
|
rs6411
|
|
NM_000497.4(CYP11B1):c.955-15_955-1del
|
rs1554652823
|
|
NM_000498.3(CYP11B2):c.*25A>C
|
rs1817542488
|
|
NM_000498.3(CYP11B2):c.*298C>A
|
rs1380755213
|
|
NM_000498.3(CYP11B2):c.*566C>T
|
rs375938097
|
|
NM_000498.3(CYP11B2):c.*591T>G
|
rs1817531890
|
|
NM_000498.3(CYP11B2):c.*743C>T
|
rs886062741
|
|
NM_000498.3(CYP11B2):c.*876C>A
|
rs1817525452
|
|
NM_000498.3(CYP11B2):c.*972C>G
|
rs886062740
|
|
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)
|
rs1409744694
|
|
NM_000498.3(CYP11B2):c.1201-9C>G
|
rs750931398
|
|
NM_000498.3(CYP11B2):c.1398+10C>T
|
rs1817553996
|
|
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)
|
rs1817545728
|
|
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)
|
rs1817545422
|
|
NM_000498.3(CYP11B2):c.240-9del
|
rs61757314
|
|
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)
|
rs760339298
|
|
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met)
|
rs886062744
|
|
NM_000498.3(CYP11B2):c.595+15G>T
|
rs886062743
|
|
NM_000498.3(CYP11B2):c.874G>A (p.Glu292Lys)
|
|
|
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)
|
rs764640232
|
|
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
|
|
|
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro)
|
rs760216630
|
|
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
|
rs574370139
|
|
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)
|
rs2151875445
|
|
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro)
|
rs376421504
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)
|
rs1582311004
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)
|
rs1451687726
|
|
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)
|
rs2151876037
|
|
NM_000500.9(CYP21A2):c.1223-3C>G
|
rs6460
|
|
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg)
|
rs751456004
|
|
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu)
|
rs1257180779
|
|
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)
|
rs1240539721
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr)
|
rs776989258
|
|
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser)
|
rs1185350916
|
|
NM_000500.9(CYP21A2):c.292+3A>G
|
rs752771213
|
|
NM_000500.9(CYP21A2):c.293-100_293-99insG
|
rs1582301904
|
|
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
|
|
|
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val)
|
rs1582304416
|
|
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)
|
rs1582304441
|
|
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
|
|
|
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu)
|
rs1185695713
|
|
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu)
|
rs777946906
|
|
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)
|
rs1582306855
|
|
NM_000500.9(CYP21A2):c.738+12_738+13inv
|
|
|
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=)
|
rs1441177352
|
|
NM_000500.9(CYP21A2):c.739-74G>A
|
rs1582307366
|
|
NM_000500.9(CYP21A2):c.740del (p.Glu247fs)
|
rs750499484
|
|
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)
|
rs2151874388
|
|
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)
|
rs570785206
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000529.2(MC2R):c.*1010T>A
|
rs886053633
|
|
NM_000529.2(MC2R):c.*1012T>A
|
rs886053632
|
|
NM_000529.2(MC2R):c.*1035G>A
|
rs2045247559
|
|
NM_000529.2(MC2R):c.*1043G>A
|
rs1007872828
|
|
NM_000529.2(MC2R):c.*1068A>G
|
rs1053713890
|
|
NM_000529.2(MC2R):c.*1265A>C
|
rs886053624
|
|
NM_000529.2(MC2R):c.*1469A>G
|
rs1258255213
|
|
NM_000529.2(MC2R):c.*1667G>A
|
rs886053621
|
|
NM_000529.2(MC2R):c.*1917C>A
|
rs1005290429
|
|
NM_000529.2(MC2R):c.*2572G>A
|
rs2045234534
|
|
NM_000529.2(MC2R):c.*376G>C
|
rs886053649
|
|
NM_000529.2(MC2R):c.*470G>A
|
rs886053646
|
|
NM_000529.2(MC2R):c.*471C>A
|
rs142527936
|
|
NM_000529.2(MC2R):c.*862T>C
|
rs886053644
|
|
NM_000529.2(MC2R):c.*957C>G
|
rs1053257976
|
|
NM_000529.2(MC2R):c.-117A>T
|
rs886053652
|
|
NM_000529.2(MC2R):c.-48T>C
|
rs559902243
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.409C>A (p.Arg137=)
|
rs104894660
|
|
NM_000529.2(MC2R):c.524T>A (p.Val175Glu)
|
rs886053651
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
NM_000529.2(MC2R):c.666C>G (p.Thr222=)
|
rs1401738616
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_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_000781.3(CYP11A1):c.-35A>G
|
rs886051481
|
|
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val)
|
rs2060597413
|
|
NM_000781.3(CYP11A1):c.1164C>T (p.His388=)
|
rs537187397
|
|
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn)
|
rs886051479
|
|
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu)
|
rs2060740796
|
|
NM_000781.3(CYP11A1):c.425+4A>T
|
|
|
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)
|
rs1567053134
|
|
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His)
|
rs886051480
|
|
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His)
|
rs775022280
|
|
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu)
|
rs1060499732
|
|
NM_000890.5(KCNJ5):c.*103G>C
|
rs886048012
|
|
NM_000890.5(KCNJ5):c.*1090C>T
|
rs958122055
|
|
NM_000890.5(KCNJ5):c.*1151C>T
|
rs886048019
|
|
NM_000890.5(KCNJ5):c.*1323del
|
rs886048020
|
|
NM_000890.5(KCNJ5):c.*200C>A
|
rs756204980
|
|
NM_000890.5(KCNJ5):c.*228G>T
|
rs886048013
|
|
NM_000890.5(KCNJ5):c.*667C>T
|
rs886048014
|
|
NM_000890.5(KCNJ5):c.*747A>G
|
rs886048015
|
|
NM_000890.5(KCNJ5):c.*861GTTTT[8]
|
rs36205004
|
|
NM_000890.5(KCNJ5):c.*936C>G
|
rs77525858
|
|
NM_000890.5(KCNJ5):c.*978T>G
|
rs886048017
|
|
NM_000890.5(KCNJ5):c.-213G>A
|
rs1944091343
|
|
NM_000890.5(KCNJ5):c.-258_-255del
|
rs886048008
|
|
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA
|
rs886048005
|
|
NM_000890.5(KCNJ5):c.-287G>C
|
rs868130049
|
|
NM_000890.5(KCNJ5):c.-289GA[18]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-289GA[19]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-289GA[20]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-291C>G
|
rs10893931
|
|
NM_000890.5(KCNJ5):c.-291GA[3]
|
rs886048000
|
|
NM_000890.5(KCNJ5):c.-291_-286del
|
rs886048002
|
|
NM_000890.5(KCNJ5):c.-291_-288del
|
rs886048001
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG
|
rs886048003
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG
|
rs886048003
|
|
NM_000890.5(KCNJ5):c.-293GA[3]
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-293GA[4]
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-293_-288del
|
rs886047997
|
|
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA
|
rs886047999
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-294_-293insGAGA
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-295GA[3]
|
rs886047994
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG
|
rs886047993
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047993
|
|
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG
|
rs886047992
|
|
NM_000890.5(KCNJ5):c.-301C>G
|
rs868416561
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG
|
rs886047987
|
|
NM_000890.5(KCNJ5):c.-333CA[24]
|
rs113761140
|
|
NM_000890.5(KCNJ5):c.-9A>C
|
rs752992023
|
|
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)
|
rs930047035
|
|
NM_000890.5(KCNJ5):c.435G>A (p.Glu145=)
|
rs1944503011
|
|
NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys)
|
rs1944503932
|
|
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)
|
rs886048011
|
|
NM_001018077.1(NR3C1):c.-14+9T>C
|
rs1462621396
|
|
NM_001018077.1(NR3C1):c.-363G>A
|
rs1752038517
|
|
NM_001018077.1(NR3C1):c.-717A>T
|
rs747240221
|
|
NM_001018077.1(NR3C1):c.-782G>T
|
rs148648056
|
|
NM_001018077.1(NR3C1):c.-896A>C
|
rs1752058585
|
|
NM_001018077.1(NR3C1):c.-90A>G
|
rs1752027227
|
|
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)
|
rs202117698
|
|
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys)
|
|
|
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln)
|
rs1193226150
|
|
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro)
|
rs2108724010
|
|
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile)
|
rs2094998922
|
|
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu)
|
rs142057539
|
|
NM_001128840.3(CACNA1D):c.3119A>G (p.Lys1040Arg)
|
|
|
NM_001128840.3(CACNA1D):c.3455T>C (p.Ile1152Thr)
|
rs2108865550
|
|
NM_001128840.3(CACNA1D):c.484-53385T>G
|
rs2107845171
|
|
NM_001128840.3(CACNA1D):c.4863A>T (p.Lys1621Asn)
|
rs2109109769
|
|
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
|
|
|
NM_001128840.3(CACNA1D):c.5203T>G (p.Ser1735Ala)
|
|
|
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys)
|
rs1559716901
|
|
NM_001128840.3(CACNA1D):c.5587C>T (p.Gln1863Ter)
|
rs528674015
|
|
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp)
|
rs2095587946
|
|
NM_001128840.3(CACNA1D):c.6115G>C (p.Ala2039Pro)
|
|
|
NM_001128840.3(CACNA1D):c.6279C>A (p.Asp2093Glu)
|
|
|
NM_001128840.3(CACNA1D):c.6286A>G (p.Ile2096Val)
|
|
|
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln)
|
rs2094189629
|
|
NM_001128840.3(CACNA1D):c.971G>A (p.Arg324His)
|
rs1186152619
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
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_001370100.5(ZMYND11):c.117-4238T>A
|
rs1057517548
|
|
NM_001370259.2(MEN1):c.*245C>T
|
rs1941463518
|
|
NM_001370259.2(MEN1):c.*341C>G
|
rs892949876
|
|
NM_001370259.2(MEN1):c.*373G>C
|
rs886048476
|
|
NM_001370259.2(MEN1):c.*392G>A
|
rs886048475
|
|
NM_001370259.2(MEN1):c.-2C>T
|
rs653534
|
|
NM_001370259.2(MEN1):c.1000G>A (p.Val334Met)
|
rs1555165027
|
|
NM_001370259.2(MEN1):c.1001T>A (p.Val334Glu)
|
|
|
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup)
|
rs1114167529
|
|
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met)
|
rs771554497
|
|
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro)
|
rs2136118718
|
|
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly)
|
rs2136118671
|
|
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys)
|
|
|
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn)
|
rs2136118303
|
|
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu)
|
rs878855185
|
|
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1033G>T (p.Ala345Ser)
|
|
|
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1037C>G (p.Thr346Ser)
|
|
|
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu)
|
|
|
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp)
|
rs1592642971
|
|
NM_001370259.2(MEN1):c.1049+6G>A
|
|
|
NM_001370259.2(MEN1):c.1050-34_1050-14del
|
|
|
NM_001370259.2(MEN1):c.1050-3C>G
|
|
|
NM_001370259.2(MEN1):c.1050-3C>T
|
rs2136111597
|
|
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
|
|
|
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser)
|
rs1592640870
|
|
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)
|
rs1114167474
|
|
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn)
|
rs768448073
|
|
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys)
|
rs1941674204
|
|
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)
|
rs1060499971
|
|
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp)
|
|
|
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu)
|
rs1941672276
|
|
NM_001370259.2(MEN1):c.1088A>G (p.Glu363Gly)
|
|
|
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp)
|
|
|
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu)
|
rs863224808
|
|
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu)
|
rs1592640479
|
|
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
|
|
|
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala)
|
rs2136110269
|
|
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser)
|
rs1368034727
|
|
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile)
|
rs1941669758
|
|
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
|
|
|
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val)
|
rs1211957325
|
|
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln)
|
rs1941668371
|
|
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
|
|
|
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg)
|
rs766075737
|
|
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr)
|
rs2136109409
|
|
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly)
|
rs1565642307
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1156G>A (p.Gly386Ser)
|
rs767595183
|
|
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala)
|
rs761360623
|
|
NM_001370259.2(MEN1):c.1158C>T (p.Gly386=)
|
rs794728653
|
|
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1171G>A (p.Gly391Arg)
|
|
|
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu)
|
rs998827212
|
|
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.117G>A (p.Leu39=)
|
rs2136193601
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1185+3G>A
|
rs1199137996
|
|
NM_001370259.2(MEN1):c.1185+6A>G
|
rs2136107870
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile)
|
rs1941628720
|
|
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu)
|
rs886039418
|
|
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His)
|
rs1592637824
|
|
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly)
|
rs1941626700
|
|
NM_001370259.2(MEN1):c.1196G>A (p.Ser399Asn)
|
|
|
NM_001370259.2(MEN1):c.1196G>C (p.Ser399Thr)
|
|
|
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)
|
rs386134248
|
|
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr)
|
rs1592661250
|
|
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)
|
rs878855186
|
|
NM_001370259.2(MEN1):c.1205C>A (p.Ser402Tyr)
|
|
|
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe)
|
rs1060499989
|
|
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His)
|
rs1941623255
|
|
NM_001370259.2(MEN1):c.1216G>A (p.Asp406Asn)
|
|
|
NM_001370259.2(MEN1):c.1216G>C (p.Asp406His)
|
|
|
NM_001370259.2(MEN1):c.1218C>G (p.Asp406Glu)
|
|
|
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)
|
rs1060499985
|
|
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln)
|
rs1941620661
|
|
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser)
|
rs757179911
|
|
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr)
|
|
|
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)
|
rs1942013583
|
|
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu)
|
rs2071313
|
|
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)
|
|
|
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=)
|
|
|
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys)
|
rs1114167477
|
|
NM_001370259.2(MEN1):c.1278C>T (p.Gly426=)
|
|
|
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)
|
rs1555164245
|
|
NM_001370259.2(MEN1):c.1282C>G (p.Pro428Ala)
|
|
|
NM_001370259.2(MEN1):c.1282C>T (p.Pro428Ser)
|
|
|
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met)
|
rs757803925
|
|
NM_001370259.2(MEN1):c.1289C>A (p.Pro430His)
|
|
|
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)
|
rs1555164218
|
|
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr)
|
rs1941611706
|
|
NM_001370259.2(MEN1):c.1298_1299delinsGC (p.His433Arg)
|
|
|
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu)
|
rs1592660139
|
|
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met)
|
rs767854775
|
|
NM_001370259.2(MEN1):c.130G>A (p.Val44Met)
|
|
|
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)
|
rs1555164188
|
|
NM_001370259.2(MEN1):c.1312A>G (p.Thr438Ala)
|
|
|
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser)
|
|
|
NM_001370259.2(MEN1):c.1321G>A (p.Val441Met)
|
|
|
NM_001370259.2(MEN1):c.1330C>G (p.Leu444Val)
|
rs2136100021
|
|
NM_001370259.2(MEN1):c.1333G>A (p.Gly445Ser)
|
|
|
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys)
|
rs1555164153
|
|
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His)
|
rs1555164143
|
|
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu)
|
rs1325598637
|
|
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp)
|
rs371339952
|
|
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp)
|
|
|
NM_001370259.2(MEN1):c.1350+3G>A
|
|
|
NM_001370259.2(MEN1):c.1350+3_1350+22del
|
|
|
NM_001370259.2(MEN1):c.1350+4_1350+6del
|
rs1565639798
|
|
NM_001370259.2(MEN1):c.1350+5G>A
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350+5G>T
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1351-4_1352del
|
|
|
NM_001370259.2(MEN1):c.1351-7G>A
|
rs1941572921
|
|
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met)
|
rs1941570102
|
|
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
|
|
|
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)
|
rs372468697
|
|
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu)
|
|
|
NM_001370259.2(MEN1):c.1369A>G (p.Ile457Val)
|
|
|
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu)
|
rs1021589871
|
|
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg)
|
rs1277747983
|
|
NM_001370259.2(MEN1):c.1373T>C (p.Val458Ala)
|
|
|
NM_001370259.2(MEN1):c.1375A>T (p.Ser459Cys)
|
|
|
NM_001370259.2(MEN1):c.1378C>G (p.Arg460Gly)
|
|
|
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)
|
rs200035619
|
|
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln)
|
rs1941566282
|
|
NM_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
|
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro)
|
rs1941565557
|
|
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)
|
rs748102589
|
|
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
|
|
|
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp)
|
rs1555163863
|
|
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu)
|
|
|
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup)
|
rs1555163821
|
|
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del)
|
rs1064792907
|
|
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3])
|
rs1592633710
|
|
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys)
|
rs1114167497
|
|
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln)
|
|
|
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp)
|
rs990566024
|
|
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
|
|
|
NM_001370259.2(MEN1):c.1400C>T (p.Ala467Val)
|
|
|
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)
|
rs1471493357
|
|
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)
|
rs2136091899
|
|
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys)
|
|
|
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln)
|
rs1182898331
|
|
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala)
|
rs1565638407
|
|
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del)
|
rs1033303123
|
|
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala)
|
rs1941557896
|
|
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg)
|
rs1941555781
|
|
NM_001370259.2(MEN1):c.1415G>T (p.Gly472Val)
|
|
|
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly)
|
rs2136090940
|
|
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly)
|
|
|
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del)
|
rs1290740194
|
|
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp)
|
rs1941554063
|
|
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)
|
rs753185026
|
|
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp)
|
rs863224811
|
|
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser)
|
rs1941551993
|
|
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp)
|
rs1941551498
|
|
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro)
|
rs1555163716
|
|
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp)
|
rs1301120298
|
|
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln)
|
rs1450318836
|
|
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)
|
rs1592660057
|
|
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser)
|
rs2136089783
|
|
NM_001370259.2(MEN1):c.1445G>A (p.Gly482Asp)
|
|
|
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu)
|
rs1941548759
|
|
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly)
|
|
|
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp)
|
rs1941548479
|
|
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln)
|
|
|
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp)
|
rs1254459338
|
|
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln)
|
rs2136089297
|
|
NM_001370259.2(MEN1):c.1456G>A (p.Glu486Lys)
|
|
|
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp)
|
rs1413990417
|
|
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro)
|
rs1057427859
|
|
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr)
|
rs1942011819
|
|
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser)
|
|
|
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe)
|
rs1941546652
|
|
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln)
|
rs1941546101
|
|
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg)
|
rs1941545858
|
|
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr)
|
rs587778440
|
|
NM_001370259.2(MEN1):c.1466C>T (p.Pro489Leu)
|
|
|
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val)
|
rs1555166674
|
|
NM_001370259.2(MEN1):c.1474C>T (p.Pro492Ser)
|
|
|
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu)
|
rs1025851127
|
|
NM_001370259.2(MEN1):c.1477C>T (p.Pro493Ser)
|
rs1941543089
|
|
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser)
|
|
|
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg)
|
rs1270463727
|
|
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg)
|
rs1941540571
|
|
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr)
|
rs761517398
|
|
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg)
|
rs1941538934
|
|
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly)
|
rs2136196896
|
|
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
|
|
|
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu)
|
rs2136087305
|
|
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys)
|
rs2136087052
|
|
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val)
|
rs1390530663
|
|
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile)
|
rs1347992299
|
|
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser)
|
rs1941533809
|
|
NM_001370259.2(MEN1):c.1525G>T (p.Gly509Cys)
|
|
|
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val)
|
rs1356056436
|
|
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser)
|
rs1942010838
|
|
NM_001370259.2(MEN1):c.1537G>C (p.Gly513Arg)
|
|
|
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys)
|
|
|
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser)
|
rs779466487
|
|
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg)
|
rs1941528728
|
|
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)
|
rs763160290
|
|
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln)
|
rs1565637104
|
|
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser)
|
|
|
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.1555C>T (p.Pro519Ser)
|
|
|
NM_001370259.2(MEN1):c.1556C>T (p.Pro519Leu)
|
|
|
NM_001370259.2(MEN1):c.155G>A (p.Arg52His)
|
rs1942010221
|
|
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala)
|
rs1592631462
|
|
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)
|
rs760683615
|
|
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=)
|
rs1592631415
|
|
NM_001370259.2(MEN1):c.1570G>A (p.Gly524Ser)
|
|
|
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr)
|
rs1295193195
|
|
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val)
|
|
|
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu)
|
rs2136191735
|
|
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp)
|
rs1555163392
|
|
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln)
|
rs762145604
|
|
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser)
|
rs1592631128
|
|
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp)
|
rs1941517219
|
|
NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)
|
|
|
NM_001370259.2(MEN1):c.1601C>T (p.Thr534Met)
|
rs1192690654
|
|
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)
|
rs1057521847
|
|
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val)
|
|
|
NM_001370259.2(MEN1):c.1618C>A (p.Pro540Thr)
|
|
|
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg)
|
rs780844361
|
|
NM_001370259.2(MEN1):c.1621A>C (p.Thr541Pro)
|
rs2959656
|
|
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu)
|
rs1941511781
|
|
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val)
|
rs1941511257
|
|
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu)
|
rs1592630661
|
|
NM_001370259.2(MEN1):c.162C>G (p.Ile54Met)
|
|
|
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del)
|
|
|
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)
|
rs1387157979
|
|
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup)
|
rs774350463
|
|
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu)
|
rs1592630610
|
|
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser)
|
rs2136082158
|
|
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)
|
rs779413959
|
|
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys)
|
rs1941508162
|
|
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser)
|
|
|
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala)
|
rs914488914
|
|
NM_001370259.2(MEN1):c.1642G>T (p.Gly548Cys)
|
|
|
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu)
|
|
|
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.164C>T (p.Pro55Leu)
|
|
|
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe)
|
rs990141724
|
|
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr)
|
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met)
|
|
|
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile)
|
|
|
NM_001370259.2(MEN1):c.167C>T (p.Thr56Ile)
|
|
|
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)
|
rs1941501393
|
|
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro)
|
rs2136080204
|
|
NM_001370259.2(MEN1):c.1697T>C (p.Val566Ala)
|
|
|
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)
|
rs1555163185
|
|
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.1702A>G (p.Thr568Ala)
|
|
|
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser)
|
rs751839903
|
|
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu)
|
|
|
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn)
|
rs1257993399
|
|
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys)
|
rs1171829753
|
|
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_001370259.2(MEN1):c.1724T>C (p.Ile575Thr)
|
|
|
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met)
|
rs1941495298
|
|
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr)
|
rs1941495030
|
|
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)
|
rs794728634
|
|
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)
|
rs1328296968
|
|
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met)
|
rs1941492703
|
|
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile)
|
rs1555163058
|
|
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del)
|
rs1303070443
|
|
NM_001370259.2(MEN1):c.1766A>T (p.Lys589Met)
|
|
|
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg)
|
rs768445858
|
|
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His)
|
rs1470506250
|
|
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala)
|
rs1941489030
|
|
NM_001370259.2(MEN1):c.177C>T (p.Pro59=)
|
rs749001511
|
|
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)
|
|
|
NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala)
|
rs1941488490
|
|
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser)
|
rs2136077722
|
|
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg)
|
rs2136077699
|
|
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr)
|
rs2136077666
|
|
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys)
|
rs1174208039
|
|
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)
|
|
|
NM_001370259.2(MEN1):c.1792T>C (p.Tyr598His)
|
|
|
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala)
|
rs1941487702
|
|
NM_001370259.2(MEN1):c.1795A>T (p.Thr599Ser)
|
|
|
NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs)
|
rs1555163017
|
|
NM_001370259.2(MEN1):c.1798_1803del (p.Leu600_Ser601del)
|
|
|
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly)
|
rs1942007547
|
|
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val)
|
|
|
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)
|
|
|
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro)
|
rs1941486843
|
|
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)
|
|
|
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs)
|
rs1941486297
|
|
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)
|
|
|
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly)
|
rs2136077141
|
|
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1819C>A (p.Arg607Ser)
|
|
|
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys)
|
rs770686655
|
|
NM_001370259.2(MEN1):c.181C>T (p.Leu61Phe)
|
|
|
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu)
|
rs2136076826
|
|
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe)
|
rs1941484511
|
|
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
|
|
|
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro)
|
rs1555166619
|
|
NM_001370259.2(MEN1):c.190C>A (p.Gln64Lys)
|
|
|
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr)
|
rs1235900915
|
|
NM_001370259.2(MEN1):c.194C>A (p.Pro65His)
|
rs1114167484
|
|
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)
|
rs1942005110
|
|
NM_001370259.2(MEN1):c.197G>C (p.Ser66Thr)
|
|
|
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)
|
|
|
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg)
|
rs757766498
|
|
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr)
|
rs1343345477
|
|
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val)
|
rs1319371332
|
|
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)
|
rs1060499995
|
|
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu)
|
rs150308912
|
|
NM_001370259.2(MEN1):c.211C>G (p.Pro71Ala)
|
|
|
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser)
|
rs1592659522
|
|
NM_001370259.2(MEN1):c.215C>T (p.Pro72Leu)
|
rs878856863
|
|
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys)
|
|
|
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys)
|
rs2136188922
|
|
NM_001370259.2(MEN1):c.226A>T (p.Thr76Ser)
|
rs1592659343
|
|
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn)
|
rs886039752
|
|
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
|
|
|
NM_001370259.2(MEN1):c.229T>C (p.Tyr77His)
|
|
|
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu)
|
rs1942026565
|
|
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_001370259.2(MEN1):c.233T>C (p.Phe78Ser)
|
|
|
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala)
|
|
|
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.238G>A (p.Val80Met)
|
|
|
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr)
|
rs2136188110
|
|
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>C (p.Asp82His)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
|
|
|
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu)
|
|
|
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln)
|
rs752747097
|
|
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
|
|
|
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
|
|
|
NM_001370259.2(MEN1):c.256A>G (p.Ile86Val)
|
|
|
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
|
|
|
NM_001370259.2(MEN1):c.259_260delinsTA (p.Ala87Tyr)
|
|
|
NM_001370259.2(MEN1):c.262G>A (p.Ala88Thr)
|
|
|
NM_001370259.2(MEN1):c.263C>A (p.Ala88Asp)
|
|
|
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly)
|
|
|
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe)
|
|
|
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro)
|
rs2136187120
|
|
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del)
|
rs1064792906
|
|
NM_001370259.2(MEN1):c.269A>C (p.Tyr90Ser)
|
|
|
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys)
|
rs1565651873
|
|
NM_001370259.2(MEN1):c.26C>T (p.Thr9Met)
|
|
|
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser)
|
rs2136186838
|
|
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)
|
rs1565651820
|
|
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)
|
|
|
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser)
|
rs1592658740
|
|
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln)
|
rs1592658694
|
|
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala)
|
rs1941992512
|
|
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser)
|
rs1592658683
|
|
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)
|
|
|
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg)
|
rs1942026011
|
|
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile)
|
rs1242887389
|
|
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala)
|
rs771936005
|
|
NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln)
|
|
|
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg)
|
rs2136184835
|
|
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe)
|
rs1114167512
|
|
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.316T>C (p.Tyr106His)
|
|
|
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys)
|
rs1555166469
|
|
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
|
|
|
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser)
|
rs1358503577
|
|
NM_001370259.2(MEN1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly)
|
rs1555166447
|
|
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp)
|
rs773976527
|
|
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)
|
rs1389398299
|
|
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg)
|
rs1941987221
|
|
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)
|
|
|
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val)
|
rs2136183365
|
|
NM_001370259.2(MEN1):c.338C>T (p.Ser113Phe)
|
rs1941986326
|
|
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)
|
|
|
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg)
|
rs2136182944
|
|
NM_001370259.2(MEN1):c.340A>G (p.Ser114Gly)
|
|
|
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly)
|
rs1565651402
|
|
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln)
|
|
|
NM_001370259.2(MEN1):c.356A>G (p.Lys119Arg)
|
|
|
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro)
|
rs1941983276
|
|
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn)
|
rs1941982745
|
|
NM_001370259.2(MEN1):c.373A>T (p.Ile125Leu)
|
rs1941982271
|
|
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr)
|
rs1941982084
|
|
NM_001370259.2(MEN1):c.376T>C (p.Trp126Arg)
|
rs1592657993
|
|
NM_001370259.2(MEN1):c.378G>T (p.Trp126Cys)
|
|
|
NM_001370259.2(MEN1):c.378_389del (p.Trp126_Ser130delinsCys)
|
|
|
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser)
|
rs2136180841
|
|
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys)
|
rs1941981145
|
|
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys)
|
rs2136180487
|
|
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys)
|
rs2136180282
|
|
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys)
|
rs1555166357
|
|
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln)
|
rs121913034
|
|
NM_001370259.2(MEN1):c.406G>C (p.Asp136His)
|
rs1941979334
|
|
NM_001370259.2(MEN1):c.409C>G (p.Arg137Gly)
|
|
|
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys)
|
rs1209178117
|
|
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val)
|
|
|
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)
|
rs376510601
|
|
NM_001370259.2(MEN1):c.41G>C (p.Arg14Pro)
|
|
|
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg)
|
rs758846538
|
|
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val)
|
|
|
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro)
|
rs2136178143
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.431T>C (p.Phe144Ser)
|
|
|
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu)
|
rs2136177828
|
|
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
|
|
|
NM_001370259.2(MEN1):c.433A>C (p.Ser145Arg)
|
rs778932605
|
|
NM_001370259.2(MEN1):c.434G>A (p.Ser145Asn)
|
|
|
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr)
|
|
|
NM_001370259.2(MEN1):c.439A>G (p.Ile147Val)
|
|
|
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala)
|
rs1114167537
|
|
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
|
|
|
NM_001370259.2(MEN1):c.445+3T>C
|
rs2136177528
|
|
NM_001370259.2(MEN1):c.445+4G>A
|
rs1941974933
|
|
NM_001370259.2(MEN1):c.445+5G>A
|
rs1941974766
|
|
NM_001370259.2(MEN1):c.446-3C>T
|
rs377461506
|
|
NM_001370259.2(MEN1):c.446-6C>A
|
rs1941875791
|
|
NM_001370259.2(MEN1):c.446G>T (p.Gly149Val)
|
rs1444210255
|
|
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu)
|
rs2136159555
|
|
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg)
|
rs2136159495
|
|
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile)
|
rs1941873896
|
|
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe)
|
|
|
NM_001370259.2(MEN1):c.469G>A (p.Val157Met)
|
rs1555165872
|
|
NM_001370259.2(MEN1):c.46A>T (p.Ile16Phe)
|
|
|
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr)
|
rs1421808873
|
|
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)
|
rs794728617
|
|
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu)
|
rs1941871397
|
|
NM_001370259.2(MEN1):c.47T>C (p.Ile16Thr)
|
|
|
NM_001370259.2(MEN1):c.481G>A (p.Val161Met)
|
rs1268563474
|
|
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile)
|
rs2136157511
|
|
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser)
|
rs1311408888
|
|
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro)
|
|
|
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
|
|
|
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr)
|
|
|
NM_001370259.2(MEN1):c.4G>A (p.Gly2Arg)
|
|
|
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val)
|
rs1555165846
|
|
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.508C>G (p.Leu170Val)
|
|
|
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro)
|
rs1941866849
|
|
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly)
|
rs143329068
|
|
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro)
|
rs607969
|
|
NM_001370259.2(MEN1):c.514G>C (p.Asp172His)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.520C>T (p.His174Tyr)
|
|
|
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.529C>G (p.Leu177Val)
|
rs865919253
|
|
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr)
|
rs2136195598
|
|
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)
|
rs2136154828
|
|
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr)
|
rs2136154322
|
|
NM_001370259.2(MEN1):c.540T>A (p.Asp180Glu)
|
|
|
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro)
|
|
|
NM_001370259.2(MEN1):c.54C>A (p.Asp18Glu)
|
|
|
NM_001370259.2(MEN1):c.550G>A (p.Val184Ile)
|
|
|
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu)
|
rs1265797059
|
|
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala)
|
rs764847812
|
|
NM_001370259.2(MEN1):c.556T>C (p.Phe186Leu)
|
|
|
NM_001370259.2(MEN1):c.55G>C (p.Val19Leu)
|
|
|
NM_001370259.2(MEN1):c.560G>C (p.Gly187Ala)
|
|
|
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys)
|
rs1212919060
|
|
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu)
|
rs878855195
|
|
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp)
|
rs1592651018
|
|
NM_001370259.2(MEN1):c.576G>C (p.Gln192His)
|
|
|
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
|
|
|
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.57G>A (p.Val19=)
|
rs759282395
|
|
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly)
|
rs2136152165
|
|
NM_001370259.2(MEN1):c.584_586del (p.Glu195del)
|
rs2136151782
|
|
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile)
|
rs2136151708
|
|
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu)
|
rs1942022491
|
|
NM_001370259.2(MEN1):c.590C>A (p.Thr197Asn)
|
|
|
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile)
|
rs1592650893
|
|
NM_001370259.2(MEN1):c.597C>A (p.His199Gln)
|
rs150512958
|
|
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser)
|
rs1592650813
|
|
NM_001370259.2(MEN1):c.59T>G (p.Val20Gly)
|
|
|
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu)
|
rs1592661296
|
|
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu)
|
|
|
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp)
|
rs1941854779
|
|
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys)
|
rs749844029
|
|
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp)
|
|
|
NM_001370259.2(MEN1):c.617G>A (p.Arg206His)
|
rs1565647825
|
|
NM_001370259.2(MEN1):c.617G>C (p.Arg206Pro)
|
|
|
NM_001370259.2(MEN1):c.617G>T (p.Arg206Leu)
|
|
|
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly)
|
rs1941853632
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.627G>C (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.627G>T (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.628A>C (p.Thr210Pro)
|
|
|
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly)
|
rs1565647698
|
|
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp)
|
rs1060499980
|
|
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr)
|
|
|
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
|
|
|
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)
|
rs1114167518
|
|
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)
|
rs746067825
|
|
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys)
|
rs781493730
|
|
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala)
|
rs2136148915
|
|
NM_001370259.2(MEN1):c.641G>T (p.Gly214Val)
|
|
|
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)
|
rs386134257
|
|
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro)
|
rs1592650523
|
|
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val)
|
rs2136148590
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
NM_001370259.2(MEN1):c.654+4T>C
|
rs1941847622
|
|
NM_001370259.2(MEN1):c.654+6G>T
|
rs1941847253
|
|
NM_001370259.2(MEN1):c.654G>A (p.Arg218=)
|
|
|
NM_001370259.2(MEN1):c.655-5C>A
|
rs752563214
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6_655-4del
|
rs1555165623
|
|
NM_001370259.2(MEN1):c.655-7C>A
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7C>G
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-9C>A
|
rs2136144016
|
|
NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)
|
|
|
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)
|
rs2136143369
|
|
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp)
|
rs1941830592
|
|
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser)
|
rs1555165601
|
|
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
|
|
|
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala)
|
|
|
NM_001370259.2(MEN1):c.677C>T (p.Ser226Leu)
|
|
|
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)
|
rs1060499982
|
|
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser)
|
rs754378887
|
|
NM_001370259.2(MEN1):c.691G>C (p.Asp231His)
|
rs1941827572
|
|
NM_001370259.2(MEN1):c.692A>G (p.Asp231Gly)
|
|
|
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)
|
rs1225847249
|
|
NM_001370259.2(MEN1):c.695G>A (p.Arg232His)
|
rs1941826992
|
|
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln)
|
|
|
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr)
|
rs1592649270
|
|
NM_001370259.2(MEN1):c.698A>G (p.Lys233Arg)
|
|
|
NM_001370259.2(MEN1):c.700A>G (p.Met234Val)
|
|
|
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu)
|
rs1296948476
|
|
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile)
|
rs1448041546
|
|
NM_001370259.2(MEN1):c.706G>A (p.Val236Met)
|
|
|
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu)
|
|
|
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr)
|
rs1441995061
|
|
NM_001370259.2(MEN1):c.719T>C (p.Val240Ala)
|
|
|
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)
|
rs1328062930
|
|
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala)
|
rs1373521153
|
|
NM_001370259.2(MEN1):c.737C>A (p.Ser246Tyr)
|
|
|
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val)
|
rs1555165508
|
|
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr)
|
rs1043531053
|
|
NM_001370259.2(MEN1):c.745C>A (p.Leu249Met)
|
rs2136140837
|
|
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln)
|
rs1824195184
|
|
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
|
|
|
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.760C>A (p.Leu254Met)
|
|
|
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro)
|
|
|
NM_001370259.2(MEN1):c.766C>G (p.Leu256Val)
|
|
|
NM_001370259.2(MEN1):c.770T>C (p.Leu257Pro)
|
|
|
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg)
|
|
|
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.783+5G>T
|
rs1592648530
|
|
NM_001370259.2(MEN1):c.783+6G>C
|
|
|
NM_001370259.2(MEN1):c.784-10C>A
|
rs71526470
|
|
NM_001370259.2(MEN1):c.784-17_784-14del
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg)
|
rs1555165373
|
|
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)
|
rs1114167502
|
|
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val)
|
rs1006536599
|
|
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn)
|
rs878855199
|
|
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly)
|
rs1941793463
|
|
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met)
|
rs371556177
|
|
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)
|
rs1592647333
|
|
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg)
|
rs1565645918
|
|
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg)
|
|
|
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala)
|
rs1941792670
|
|
NM_001370259.2(MEN1):c.815A>G (p.His272Arg)
|
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370259.2(MEN1):c.820G>A (p.Glu274Lys)
|
rs1941791593
|
|
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)
|
rs1592647235
|
|
NM_001370259.2(MEN1):c.824+3C>G
|
rs1941790535
|
|
NM_001370259.2(MEN1):c.825G>A (p.Arg275=)
|
|
|
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys)
|
rs1555165327
|
|
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal)
|
rs2136130018
|
|
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn)
|
|
|
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.832A>G (p.Met278Val)
|
rs1475401656
|
|
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg)
|
rs1592646765
|
|
NM_001370259.2(MEN1):c.840A>T (p.Leu280Phe)
|
|
|
NM_001370259.2(MEN1):c.842G>A (p.Gly281Glu)
|
|
|
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser)
|
rs1592646672
|
|
NM_001370259.2(MEN1):c.849G>T (p.Leu283=)
|
rs1592646641
|
|
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala)
|
rs2136129327
|
|
NM_001370259.2(MEN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.861G>C (p.Glu287Asp)
|
|
|
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly)
|
|
|
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala)
|
rs1413160325
|
|
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser)
|
|
|
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg)
|
rs745857419
|
|
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile)
|
rs780646691
|
|
NM_001370259.2(MEN1):c.877C>G (p.Pro293Ala)
|
rs2136128745
|
|
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser)
|
|
|
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser)
|
rs1565645429
|
|
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp)
|
rs1941778425
|
|
NM_001370259.2(MEN1):c.886C>T (p.Pro296Ser)
|
rs1941777494
|
|
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys)
|
rs2136194576
|
|
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly)
|
rs1592646361
|
|
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala)
|
rs1555165268
|
|
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu)
|
rs2136128195
|
|
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser)
|
rs1592646309
|
|
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile)
|
rs1941776482
|
|
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)
|
rs1942017685
|
|
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile)
|
rs1941775680
|
|
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro)
|
rs2136127925
|
|
NM_001370259.2(MEN1):c.907C>T (p.His303Tyr)
|
rs1941775165
|
|
NM_001370259.2(MEN1):c.910A>C (p.Lys304Gln)
|
|
|
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu)
|
rs1941774610
|
|
NM_001370259.2(MEN1):c.912+3G>T
|
|
|
NM_001370259.2(MEN1):c.912+5G>A
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+5G>C
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+6G>T
|
rs755302991
|
|
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser)
|
rs1555165146
|
|
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp)
|
rs1592644100
|
|
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val)
|
|
|
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys)
|
rs1942017514
|
|
NM_001370259.2(MEN1):c.920C>T (p.Ala307Val)
|
|
|
NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn)
|
rs1941731256
|
|
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile)
|
rs1565644342
|
|
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe)
|
rs1592643944
|
|
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly)
|
rs139936447
|
|
NM_001370259.2(MEN1):c.941G>C (p.Arg314Pro)
|
|
|
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu)
|
|
|
NM_001370259.2(MEN1):c.943G>A (p.Asp315Asn)
|
|
|
NM_001370259.2(MEN1):c.943G>C (p.Asp315His)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys)
|
rs780563052
|
|
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val)
|
rs1565644220
|
|
NM_001370259.2(MEN1):c.955T>G (p.Tyr319Asp)
|
rs1555165101
|
|
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)
|
rs2136194414
|
|
NM_001370259.2(MEN1):c.964A>G (p.Met322Val)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys)
|
|
|
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr)
|
rs1941725569
|
|
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg)
|
rs1941725569
|
|
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile)
|
rs947594206
|
|
NM_001370259.2(MEN1):c.970C>A (p.Leu324Met)
|
|
|
NM_001370259.2(MEN1):c.972G>A (p.Leu324=)
|
rs1592643568
|
|
NM_001370259.2(MEN1):c.973G>A (p.Ala325Thr)
|
|
|
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp)
|
rs370840265
|
|
NM_001370259.2(MEN1):c.982C>A (p.His328Asn)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>G (p.His328Asp)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly)
|
rs1565644005
|
|
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys)
|
rs1941721650
|
|
NM_001370259.2(MEN1):c.995G>A (p.Arg332His)
|
rs2136119513
|
|
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu)
|
|
|
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
|
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
NM_001379228.1(MRAP):c.107-5C>T
|
rs373512270
|
|
NM_001379228.1(MRAP):c.206+13G>C
|
rs749474036
|
|
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)
|
rs773835535
|
|
NM_001395413.1(POR):c.*137G>A
|
rs886062443
|
|
NM_001395413.1(POR):c.*219G>T
|
rs557751714
|
|
NM_001395413.1(POR):c.*291G>A
|
rs886062445
|
|
NM_001395413.1(POR):c.*40T>G
|
rs1789485173
|
|
NM_001395413.1(POR):c.-14+8C>G
|
rs1040331805
|
|
NM_001395413.1(POR):c.-14G>A
|
rs886062438
|
|
NM_001395413.1(POR):c.-14G>T
|
rs886062438
|
|
NM_001395413.1(POR):c.1048A>C (p.Asn350His)
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
|
|
|
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
|
|
|
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
|
|
|
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
NM_001395413.1(POR):c.1236C>T (p.Gly412=)
|
rs1220545486
|
|
NM_001395413.1(POR):c.1307C>T (p.Ser436Phe)
|
rs1789345072
|
|
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
|
|
|
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro)
|
rs72557936
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
|
|
|
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
|
|
|
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
|
|
|
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys)
|
rs377159530
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
|
|
|
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
|
rs782248163
|
|
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
|
|
|
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser)
|
rs569673150
|
|
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg)
|
rs569673150
|
|
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp)
|
rs1414093729
|
|
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
|
|
|
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
|
|
|
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys)
|
rs771477130
|
|
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
|
|
|
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys)
|
rs781793669
|
|
NM_001395413.1(POR):c.1965C>G (p.His655Gln)
|
rs782143954
|
|
NM_001395413.1(POR):c.1992del (p.Lys664fs)
|
|
|
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
|
|
|
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
|
|
|
NM_001395413.1(POR):c.226A>G (p.Thr76Ala)
|
rs1788485288
|
|
NM_001395413.1(POR):c.229-3T>C
|
|
|
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
|
|
|
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
|
|
|
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
|
|
|
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
|
|
|
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
|
|
|
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
|
|
|
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
|
|
|
NM_001395413.1(POR):c.369C>G (p.Ser123Arg)
|
rs2116587581
|
|
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
|
|
|
NM_001395413.1(POR):c.385G>A (p.Asp129Asn)
|
rs554865831
|
|
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
|
|
|
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
|
|
|
NM_001395413.1(POR):c.481G>A (p.Val161Met)
|
rs200112691
|
|
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
|
|
|
NM_001395413.1(POR):c.504C>G (p.Phe168Leu)
|
rs372715546
|
|
NM_001395413.1(POR):c.507G>A (p.Ala169=)
|
|
|
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
|
|
|
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
|
|
|
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
|
|
|
NM_001395413.1(POR):c.530C>G (p.Thr177Ser)
|
rs2116593920
|
|
NM_001395413.1(POR):c.552G>T (p.Met184Ile)
|
rs1554557749
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.562G>C (p.Val188Leu)
|
rs201513102
|
|
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
|
|
|
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
|
|
|
NM_001395413.1(POR):c.604G>C (p.Glu202Gln)
|
rs1585129186
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001395413.1(POR):c.625G>C (p.Asp209His)
|
rs374707345
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.646T>G (p.Phe216Val)
|
rs1789043381
|
|
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
|
|
|
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
|
|
|
NM_001395413.1(POR):c.815A>G (p.Gln272Arg)
|
rs201697814
|
|
NM_001395413.1(POR):c.891G>C (p.Glu297Asp)
|
|
|
NM_001395413.1(POR):c.939-14A>C
|
rs886062441
|
|
NM_001395413.1(POR):c.955C>T (p.His319Tyr)
|
|
|
NM_001395413.1(POR):c.985G>A (p.Ala329Thr)
|
rs1469610345
|
|
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.104G>A (p.Arg35His)
|
|
|
NM_002382.5(MAX):c.115A>G (p.Ile39Val)
|
rs2063580953
|
|
NM_002382.5(MAX):c.125G>A (p.Ser42Asn)
|
|
|
NM_002382.5(MAX):c.125G>C (p.Ser42Thr)
|
|
|
NM_002382.5(MAX):c.130C>T (p.His44Tyr)
|
rs2139884129
|
|
NM_002382.5(MAX):c.134G>A (p.Ser45Asn)
|
rs2139883912
|
|
NM_002382.5(MAX):c.137T>G (p.Leu46Trp)
|
rs2139883766
|
|
NM_002382.5(MAX):c.138G>C (p.Leu46Phe)
|
rs1595166865
|
|
NM_002382.5(MAX):c.139C>T (p.Arg47Trp)
|
rs866762160
|
|
NM_002382.5(MAX):c.142G>A (p.Asp48Asn)
|
rs2139883514
|
|
NM_002382.5(MAX):c.148G>A (p.Val50Ile)
|
|
|
NM_002382.5(MAX):c.152C>T (p.Pro51Leu)
|
rs2139882999
|
|
NM_002382.5(MAX):c.157C>A (p.Leu53Ile)
|
|
|
NM_002382.5(MAX):c.15_17del (p.Asp6del)
|
rs2063874960
|
|
NM_002382.5(MAX):c.161A>G (p.Gln54Arg)
|
|
|
NM_002382.5(MAX):c.162A>C (p.Gln54His)
|
rs2063580081
|
|
NM_002382.5(MAX):c.171+5G>A
|
|
|
NM_002382.5(MAX):c.171+6T>A
|
rs1060500098
|
|
NM_002382.5(MAX):c.171+6T>C
|
rs1060500098
|
|
NM_002382.5(MAX):c.171G>A (p.Lys57=)
|
rs2139882332
|
|
NM_002382.5(MAX):c.172-5C>G
|
rs2063106610
|
|
NM_002382.5(MAX):c.172G>A (p.Ala58Thr)
|
rs2063106441
|
|
NM_002382.5(MAX):c.173C>T (p.Ala58Val)
|
rs2063106341
|
|
NM_002382.5(MAX):c.178C>T (p.Arg60Trp)
|
rs2063106124
|
|
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)
|
rs2063106020
|
|
NM_002382.5(MAX):c.181G>T (p.Ala61Ser)
|
|
|
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
|
|
|
NM_002382.5(MAX):c.191T>C (p.Leu64Pro)
|
|
|
NM_002382.5(MAX):c.194A>G (p.Asp65Gly)
|
|
|
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.197A>G (p.Lys66Arg)
|
rs2063105729
|
|
NM_002382.5(MAX):c.198A>C (p.Lys66Asn)
|
|
|
NM_002382.5(MAX):c.208T>C (p.Tyr70His)
|
|
|
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys)
|
rs2139755062
|
|
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys)
|
rs2063105092
|
|
NM_002382.5(MAX):c.21C>G (p.Ile7Met)
|
rs760248675
|
|
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
|
|
|
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
|
|
|
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
|
|
|
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
|
|
|
NM_002382.5(MAX):c.23A>C (p.Glu8Ala)
|
|
|
NM_002382.5(MAX):c.243C>A (p.His81Gln)
|
rs1242630320
|
|
NM_002382.5(MAX):c.244C>G (p.Gln82Glu)
|
rs2063104349
|
|
NM_002382.5(MAX):c.246G>C (p.Gln82His)
|
rs2063104208
|
|
NM_002382.5(MAX):c.259G>A (p.Asp87Asn)
|
rs758700113
|
|
NM_002382.5(MAX):c.265A>G (p.Lys89Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.266A>G (p.Lys89Arg)
|
rs2063103739
|
|
NM_002382.5(MAX):c.268C>T (p.Arg90Trp)
|
rs1060500099
|
|
NM_002382.5(MAX):c.269G>A (p.Arg90Gln)
|
rs876659562
|
|
NM_002382.5(MAX):c.269G>C (p.Arg90Pro)
|
|
|
NM_002382.5(MAX):c.275A>G (p.Asn92Ser)
|
|
|
NM_002382.5(MAX):c.277G>A (p.Ala93Thr)
|
rs1555340540
|
|
NM_002382.5(MAX):c.277G>C (p.Ala93Pro)
|
rs1555340540
|
|
NM_002382.5(MAX):c.280C>A (p.Leu94Ile)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>G (p.Leu94Val)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>T (p.Leu94Phe)
|
|
|
NM_002382.5(MAX):c.284T>C (p.Leu95Pro)
|
rs878854499
|
|
NM_002382.5(MAX):c.285G>A (p.Leu95=)
|
rs878854500
|
|
NM_002382.5(MAX):c.28G>C (p.Glu10Gln)
|
|
|
NM_002382.5(MAX):c.295+3G>T
|
|
|
NM_002382.5(MAX):c.296-1G>A
|
rs1555340265
|
|
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
|
rs2063066138
|
|
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
|
|
|
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
|
rs1595127413
|
|
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
|
|
|
NM_002382.5(MAX):c.311A>G (p.Lys104Arg)
|
rs2139741946
|
|
NM_002382.5(MAX):c.323G>A (p.Ser108Asn)
|
rs2063065719
|
|
NM_002382.5(MAX):c.325G>A (p.Ala109Thr)
|
rs2139741730
|
|
NM_002382.5(MAX):c.328C>G (p.Gln110Glu)
|
rs2063065600
|
|
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
|
|
|
NM_002382.5(MAX):c.334C>T (p.Gln112Ter)
|
|
|
NM_002382.5(MAX):c.335A>G (p.Gln112Arg)
|
rs1234074950
|
|
NM_002382.5(MAX):c.336G>C (p.Gln112His)
|
rs1595127306
|
|
NM_002382.5(MAX):c.337A>T (p.Thr113Ser)
|
rs1060500100
|
|
NM_002382.5(MAX):c.341A>G (p.Asn114Ser)
|
rs772912674
|
|
NM_002382.5(MAX):c.343T>C (p.Tyr115His)
|
|
|
NM_002382.5(MAX):c.346C>T (p.Pro116Ser)
|
rs1186625283
|
|
NM_002382.5(MAX):c.34G>A (p.Asp12Asn)
|
rs2063874476
|
|
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)
|
rs2063874476
|
|
NM_002382.5(MAX):c.350C>T (p.Ser117Phe)
|
rs2139741158
|
|
NM_002382.5(MAX):c.353C>G (p.Ser118Ter)
|
|
|
NM_002382.5(MAX):c.353C>T (p.Ser118Leu)
|
rs2063063803
|
|
NM_002382.5(MAX):c.355G>A (p.Asp119Asn)
|
|
|
NM_002382.5(MAX):c.356A>G (p.Asp119Gly)
|
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.359A>G (p.Asn120Ser)
|
rs80206158
|
|
NM_002382.5(MAX):c.360C>A (p.Asn120Lys)
|
rs1555340209
|
|
NM_002382.5(MAX):c.36C>G (p.Asp12Glu)
|
rs370402660
|
|
NM_002382.5(MAX):c.36C>T (p.Asp12=)
|
rs370402660
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
NM_002382.5(MAX):c.37-3_37-2insG
|
|
|
NM_002382.5(MAX):c.373A>C (p.Asn125His)
|
rs2063062933
|
|
NM_002382.5(MAX):c.373A>T (p.Asn125Tyr)
|
|
|
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
|
rs779789251
|
|
NM_002382.5(MAX):c.380A>G (p.Lys127Arg)
|
rs2063062410
|
|
NM_002382.5(MAX):c.382G>A (p.Gly128Ser)
|
rs2139740580
|
|
NM_002382.5(MAX):c.385A>G (p.Ser129Gly)
|
rs2063062255
|
|
NM_002382.5(MAX):c.385A>T (p.Ser129Cys)
|
|
|
NM_002382.5(MAX):c.387C>A (p.Ser129Arg)
|
rs2063062162
|
|
NM_002382.5(MAX):c.388A>G (p.Thr130Ala)
|
rs1566598180
|
|
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
|
|
|
NM_002382.5(MAX):c.391A>G (p.Ile131Val)
|
rs1595127131
|
|
NM_002382.5(MAX):c.398C>T (p.Ala133Val)
|
|
|
NM_002382.5(MAX):c.403G>C (p.Asp135His)
|
rs201312694
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.409G>C (p.Gly137Arg)
|
rs17852278
|
|
NM_002382.5(MAX):c.410del (p.Gly137fs)
|
rs2139740118
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.416A>T (p.Asp139Val)
|
rs2139739937
|
|
NM_002382.5(MAX):c.417C>G (p.Asp139Glu)
|
rs2139739918
|
|
NM_002382.5(MAX):c.422G>C (p.Ser141Thr)
|
rs1159227189
|
|
NM_002382.5(MAX):c.424T>C (p.Ser142Pro)
|
|
|
NM_002382.5(MAX):c.429G>C (p.Glu143Asp)
|
rs773818427
|
|
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
|
|
|
NM_002382.5(MAX):c.436C>T (p.Pro146Ser)
|
|
|
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
|
rs2063059506
|
|
NM_002382.5(MAX):c.442dup (p.Glu148fs)
|
rs1566597938
|
|
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
|
|
|
NM_002382.5(MAX):c.452G>A (p.Ser151Asn)
|
rs2139739378
|
|
NM_002382.5(MAX):c.460A>G (p.Lys154Glu)
|
|
|
NM_002382.5(MAX):c.467G>A (p.Arg156Gln)
|
rs876659544
|
|
NM_002382.5(MAX):c.46C>A (p.Pro16Thr)
|
|
|
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
|
|
|
NM_002382.5(MAX):c.473A>G (p.Glu158Gly)
|
|
|
NM_002382.5(MAX):c.478del (p.Ser160fs)
|
|
|
NM_002382.5(MAX):c.47C>T (p.Pro16Leu)
|
rs2063834899
|
|
NM_002382.5(MAX):c.49A>G (p.Arg17Gly)
|
|
|
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
|
|
|
NM_002382.5(MAX):c.52T>A (p.Phe18Ile)
|
rs2139963969
|
|
NM_002382.5(MAX):c.57A>C (p.Gln19His)
|
rs1395966308
|
|
NM_002382.5(MAX):c.58T>C (p.Ser20Pro)
|
rs2063833930
|
|
NM_002382.5(MAX):c.59C>A (p.Ser20Tyr)
|
|
|
NM_002382.5(MAX):c.59C>T (p.Ser20Phe)
|
|
|
NM_002382.5(MAX):c.63G>T (p.Ala21=)
|
rs765338814
|
|
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
|
|
|
NM_002382.5(MAX):c.67G>A (p.Asp23Asn)
|
rs2139887316
|
|
NM_002382.5(MAX):c.68A>T (p.Asp23Val)
|
|
|
NM_002382.5(MAX):c.71A>G (p.Lys24Arg)
|
rs1174960252
|
|
NM_002382.5(MAX):c.73C>T (p.Arg25Trp)
|
|
|
NM_002382.5(MAX):c.98G>A (p.Arg33Gln)
|
|
|
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)
|
rs778468626
|
|
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)
|
rs1308936763
|
|
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)
|
rs1568696484
|
|
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)
|
rs773162575
|
|
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)
|
rs2143324114
|
|
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)
|
rs1329426125
|
|
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.*133T>C
|
rs111686611
|
|
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.445C>T (p.Gln149Ter)
|
rs876658451
|
|
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.451A>G (p.Lys151Glu)
|
rs2101521808
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.454T>C (p.Ser152Pro)
|
rs886045584
|
|
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.540+8G>T
|
rs2077999169
|
|
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.73-29del
|
rs745905902
|
|
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.*1052G>C
|
rs890522944
|
|
NM_003001.4(SDHC):c.*1181G>T
|
rs1024498996
|
|
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.*1650A>C
|
rs1672634465
|
|
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.*2240C>A
|
rs1672660795
|
|
NM_003001.4(SDHC):c.*2264G>T
|
rs886045496
|
|
NM_003001.4(SDHC):c.*780G>A
|
rs886045483
|
|
NM_003001.4(SDHC):c.*855C>T
|
rs1672602391
|
|
NM_003001.4(SDHC):c.*863G>A
|
rs570400725
|
|
NM_003001.5(SDHC):c.*115T>G
|
rs886045478
|
|
NM_003001.5(SDHC):c.*34A>G
|
rs886045477
|
|
NM_003001.5(SDHC):c.*527G>T
|
rs886045481
|
|
NM_003001.5(SDHC):c.*540A>G
|
rs1672588355
|
|
NM_003001.5(SDHC):c.*632A>G
|
rs886045482
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
NM_003001.5(SDHC):c.20+14G>T
|
rs2102272018
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
NM_003001.5(SDHC):c.21-10dup
|
rs759481419
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.218G>A (p.Gly73Asp)
|
rs1553264219
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
NM_003001.5(SDHC):c.241+4T>C
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
NM_003001.5(SDHC):c.244G>A (p.Val82Ile)
|
rs570325845
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
|
|
|
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu)
|
rs776485432
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg)
|
rs541278701
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.394A>G (p.Ile132Val)
|
rs2102371416
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
NM_003001.5(SDHC):c.406-13del
|
rs752685687
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
NM_003001.5(SDHC):c.406-6C>G
|
rs1337338303
|
|
NM_003001.5(SDHC):c.406A>C (p.Met136Leu)
|
rs1486341484
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
NM_003001.5(SDHC):c.478G>A (p.Val160Met)
|
rs1553266502
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
NM_003001.5(SDHC):c.78-19del
|
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
NM_003002.4(SDHD):c.*340A>G
|
rs201280702
|
|
NM_003002.4(SDHD):c.*648A>G
|
rs201560447
|
|
NM_003002.4(SDHD):c.*669T>C
|
rs959465427
|
|
NM_003002.4(SDHD):c.*738T>A
|
rs886047702
|
|
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.148C>G (p.His50Asp)
|
rs779249550
|
|
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.174C>T (p.Gly58=)
|
rs1865684964
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
|
rs1592780300
|
|
NM_003002.4(SDHD):c.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.239T>G (p.Leu80Arg)
|
rs1555187010
|
|
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.443G>T (p.Gly148Val)
|
rs1555187633
|
|
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_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
NM_004168.4(SDHA):c.*75A>G
|
rs886060517
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
NM_004168.4(SDHA):c.1065-19T>A
|
|
|
NM_004168.4(SDHA):c.1065-8C>G
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
NM_004168.4(SDHA):c.1092C>T (p.Val364=)
|
rs886060515
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1274T>G (p.Val425Gly)
|
rs200047573
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu)
|
rs6962
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
NM_004168.4(SDHA):c.745G>A (p.Ala249Thr)
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
NM_004168.4(SDHA):c.770+19_770+23del
|
rs372913930
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_004285.4(H6PD):c.1514C>G (p.Ala505Gly)
|
|
|
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His)
|
rs1728346222
|
|
NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr)
|
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
NM_005149.3(TBX19):c.210G>T (p.Met70Ile)
|
rs1558190316
|
|
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)
|
rs1558190989
|
|
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
|
rs2108413471
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
|
|
|
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
|
|
|
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
|
|
|
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
|
|
|
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
|
|
|
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
|
rs748973371
|
|
NM_013335.4(GMPPA):c.12G>A (p.Ala4=)
|
rs1335428636
|
|
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
|
|
|
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
|
|
|
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)
|
rs1186293652
|
|
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
|
|
|
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)
|
rs773715630
|
|
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
|
|
|
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
|
|
|
NM_015665.6(AAAS):c.-84G>A
|
rs886049653
|
|
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
|
|
|
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
|
|
|
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
|
|
|
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)
|
rs764298213
|
|
NM_015665.6(AAAS):c.1566C>T (p.Ser522=)
|
rs886049648
|
|
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)
|
rs886049647
|
|
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)
|
rs1114167372
|
|
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)
|
rs749899811
|
|
NM_015665.6(AAAS):c.259G>T (p.Val87Leu)
|
rs766985003
|
|
NM_015665.6(AAAS):c.327G>A (p.Thr109=)
|
rs190876509
|
|
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
|
|
|
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)
|
rs774899476
|
|
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
|
|
|
NM_015665.6(AAAS):c.912T>G (p.Ala304=)
|
rs138749872
|
|
NM_015665.6(AAAS):c.936-2A>G
|
rs1565777639
|
|
NM_015665.6(AAAS):c.936-5C>T
|
rs1944343648
|
|
NM_016953.4(PDE11A):c.126_127del (p.His42fs)
|
|
|
NM_016953.4(PDE11A):c.1660del (p.Cys554fs)
|
rs573163079
|
|
NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)
|
|
|
NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)
|
|
|
NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)
|
|
|
NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln)
|
rs200504859
|
|
NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr)
|
rs779068288
|
|
NM_017841.2(SDHAF2):c.-29G>A
|
rs777834119
|
|
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.100T>C (p.Phe34Leu)
|
rs756917732
|
|
NM_017841.4(SDHAF2):c.100T>G (p.Phe34Val)
|
rs756917732
|
|
NM_017841.4(SDHAF2):c.101T>C (p.Phe34Ser)
|
rs1862010056
|
|
NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His)
|
rs1590764776
|
|
NM_017841.4(SDHAF2):c.104A>C (p.Tyr35Ser)
|
rs1330914865
|
|
NM_017841.4(SDHAF2):c.109G>A (p.Gly37Ser)
|
|
|
NM_017841.4(SDHAF2):c.109G>T (p.Gly37Cys)
|
rs868016844
|
|
NM_017841.4(SDHAF2):c.10T>G (p.Ser4Ala)
|
rs1205348193
|
|
NM_017841.4(SDHAF2):c.112G>A (p.Asp38Asn)
|
|
|
NM_017841.4(SDHAF2):c.115A>G (p.Ser39Gly)
|
|
|
NM_017841.4(SDHAF2):c.116G>A (p.Ser39Asn)
|
rs2134892250
|
|
NM_017841.4(SDHAF2):c.119C>T (p.Pro40Leu)
|
|
|
NM_017841.4(SDHAF2):c.11C>T (p.Ser4Phe)
|
rs778449586
|
|
NM_017841.4(SDHAF2):c.122C>G (p.Thr41Arg)
|
rs747508289
|
|
NM_017841.4(SDHAF2):c.122C>T (p.Thr41Ile)
|
|
|
NM_017841.4(SDHAF2):c.124G>A (p.Asp42Asn)
|
rs2134892260
|
|
NM_017841.4(SDHAF2):c.128C>T (p.Ser43Phe)
|
|
|
NM_017841.4(SDHAF2):c.130_132del (p.Gln44del)
|
rs1590764793
|
|
NM_017841.4(SDHAF2):c.131A>C (p.Gln44Pro)
|
|
|
NM_017841.4(SDHAF2):c.131A>G (p.Gln44Arg)
|
|
|
NM_017841.4(SDHAF2):c.136G>A (p.Asp46Asn)
|
rs1590764803
|
|
NM_017841.4(SDHAF2):c.138C>A (p.Asp46Glu)
|
|
|
NM_017841.4(SDHAF2):c.138C>G (p.Asp46Glu)
|
rs969049910
|
|
NM_017841.4(SDHAF2):c.14C>T (p.Thr5Ile)
|
rs1861837207
|
|
NM_017841.4(SDHAF2):c.151C>T (p.Pro51Ser)
|
rs1862010801
|
|
NM_017841.4(SDHAF2):c.152C>T (p.Pro51Leu)
|
rs1371376884
|
|
NM_017841.4(SDHAF2):c.157C>A (p.Pro53Thr)
|
rs1060503390
|
|
NM_017841.4(SDHAF2):c.158C>G (p.Pro53Arg)
|
|
|
NM_017841.4(SDHAF2):c.158C>T (p.Pro53Leu)
|
rs562958122
|
|
NM_017841.4(SDHAF2):c.170A>G (p.Glu57Gly)
|
rs2134892353
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
NM_017841.4(SDHAF2):c.176C>T (p.Thr59Ile)
|
rs2134892362
|
|
NM_017841.4(SDHAF2):c.178G>A (p.Asp60Asn)
|
|
|
NM_017841.4(SDHAF2):c.17T>C (p.Val6Ala)
|
rs1565125251
|
|
NM_017841.4(SDHAF2):c.17T>G (p.Val6Gly)
|
|
|
NM_017841.4(SDHAF2):c.181G>A (p.Glu61Lys)
|
rs1862011311
|
|
NM_017841.4(SDHAF2):c.184T>C (p.Ser62Pro)
|
|
|
NM_017841.4(SDHAF2):c.184T>G (p.Ser62Ala)
|
|
|
NM_017841.4(SDHAF2):c.190G>A (p.Glu64Lys)
|
rs1565128535
|
|
NM_017841.4(SDHAF2):c.194C>G (p.Thr65Ser)
|
rs752462796
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
NM_017841.4(SDHAF2):c.19T>C (p.Phe7Leu)
|
|
|
NM_017841.4(SDHAF2):c.19T>G (p.Phe7Val)
|
|
|
NM_017841.4(SDHAF2):c.200G>T (p.Arg67Ile)
|
|
|
NM_017841.4(SDHAF2):c.202G>A (p.Ala68Thr)
|
rs2134892420
|
|
NM_017841.4(SDHAF2):c.206G>T (p.Arg69Leu)
|
rs753474292
|
|
NM_017841.4(SDHAF2):c.208C>G (p.Leu70Val)
|
rs1862011903
|
|
NM_017841.4(SDHAF2):c.208_210delinsAGT (p.Leu70Ser)
|
rs2134892434
|
|
NM_017841.4(SDHAF2):c.20T>A (p.Phe7Tyr)
|
|
|
NM_017841.4(SDHAF2):c.212T>C (p.Leu71Pro)
|
|
|
NM_017841.4(SDHAF2):c.214T>C (p.Tyr72His)
|
|
|
NM_017841.4(SDHAF2):c.215A>T (p.Tyr72Phe)
|
|
|
NM_017841.4(SDHAF2):c.218A>C (p.Glu73Ala)
|
rs1554984643
|
|
NM_017841.4(SDHAF2):c.21C>A (p.Phe7Leu)
|
|
|
NM_017841.4(SDHAF2):c.220A>G (p.Ser74Gly)
|
rs2134892451
|
|
NM_017841.4(SDHAF2):c.222C>G (p.Ser74Arg)
|
rs749887667
|
|
NM_017841.4(SDHAF2):c.224G>A (p.Arg75Lys)
|
|
|
NM_017841.4(SDHAF2):c.228G>C (p.Lys76Asn)
|
|
|
NM_017841.4(SDHAF2):c.230G>A (p.Arg77Lys)
|
rs755511528
|
|
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu)
|
rs1590764905
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.238T>G (p.Leu80Val)
|
rs2134892506
|
|
NM_017841.4(SDHAF2):c.23C>T (p.Ser8Leu)
|
rs1254052531
|
|
NM_017841.4(SDHAF2):c.240G>C (p.Leu80Phe)
|
rs1223446048
|
|
NM_017841.4(SDHAF2):c.244A>G (p.Asn82Asp)
|
|
|
NM_017841.4(SDHAF2):c.246C>G (p.Asn82Lys)
|
rs1590764924
|
|
NM_017841.4(SDHAF2):c.247T>C (p.Cys83Arg)
|
|
|
NM_017841.4(SDHAF2):c.247T>G (p.Cys83Gly)
|
|
|
NM_017841.4(SDHAF2):c.250A>G (p.Ile84Val)
|
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.260+6G>A
|
rs2134892567
|
|
NM_017841.4(SDHAF2):c.263T>C (p.Leu88Pro)
|
|
|
NM_017841.4(SDHAF2):c.265T>G (p.Phe89Val)
|
|
|
NM_017841.4(SDHAF2):c.268G>C (p.Ala90Pro)
|
|
|
NM_017841.4(SDHAF2):c.26C>G (p.Thr9Ser)
|
|
|
NM_017841.4(SDHAF2):c.271A>G (p.Lys91Glu)
|
rs1358923878
|
|
NM_017841.4(SDHAF2):c.274G>A (p.Glu92Lys)
|
rs1862015494
|
|
NM_017841.4(SDHAF2):c.276A>C (p.Glu92Asp)
|
rs2134892782
|
|
NM_017841.4(SDHAF2):c.277C>T (p.His93Tyr)
|
|
|
NM_017841.4(SDHAF2):c.278A>T (p.His93Leu)
|
|
|
NM_017841.4(SDHAF2):c.279T>G (p.His93Gln)
|
rs1374250850
|
|
NM_017841.4(SDHAF2):c.280C>G (p.Leu94Val)
|
|
|
NM_017841.4(SDHAF2):c.287A>C (p.His96Pro)
|
|
|
NM_017841.4(SDHAF2):c.289A>G (p.Met97Val)
|
rs201520416
|
|
NM_017841.4(SDHAF2):c.298A>G (p.Lys100Glu)
|
rs2134892837
|
|
NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu)
|
rs1590759653
|
|
NM_017841.4(SDHAF2):c.300G>T (p.Lys100Asn)
|
|
|
NM_017841.4(SDHAF2):c.301C>A (p.Gln101Lys)
|
rs2134892844
|
|
NM_017841.4(SDHAF2):c.309C>A (p.Asn103Lys)
|
rs184314049
|
|
NM_017841.4(SDHAF2):c.310C>T (p.Leu104Phe)
|
|
|
NM_017841.4(SDHAF2):c.317A>G (p.Asp106Gly)
|
|
|
NM_017841.4(SDHAF2):c.318C>A (p.Asp106Glu)
|
rs1862016302
|
|
NM_017841.4(SDHAF2):c.318C>G (p.Asp106Glu)
|
|
|
NM_017841.4(SDHAF2):c.320G>T (p.Arg107Leu)
|
|
|
NM_017841.4(SDHAF2):c.326T>C (p.Ile109Thr)
|
|
|
NM_017841.4(SDHAF2):c.327T>G (p.Ile109Met)
|
rs757670376
|
|
NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp)
|
rs148425779
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.331G>C (p.Glu111Gln)
|
|
|
NM_017841.4(SDHAF2):c.334C>A (p.Pro112Thr)
|
rs758481098
|
|
NM_017841.4(SDHAF2):c.348G>C (p.Trp116Cys)
|
rs1590765145
|
|
NM_017841.4(SDHAF2):c.349G>A (p.Asp117Asn)
|
|
|
NM_017841.4(SDHAF2):c.34C>G (p.Leu12Val)
|
|
|
NM_017841.4(SDHAF2):c.350A>T (p.Asp117Val)
|
rs151040226
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)
|
|
|
NM_017841.4(SDHAF2):c.35T>A (p.Leu12Gln)
|
|
|
NM_017841.4(SDHAF2):c.35T>C (p.Leu12Pro)
|
rs1590759677
|
|
NM_017841.4(SDHAF2):c.36+5G>A
|
rs1590759705
|
|
NM_017841.4(SDHAF2):c.362G>A (p.Trp121Ter)
|
rs1862017197
|
|
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter)
|
rs1060499901
|
|
NM_017841.4(SDHAF2):c.364G>T (p.Ala122Ser)
|
|
|
NM_017841.4(SDHAF2):c.366_370+9del
|
|
|
NM_017841.4(SDHAF2):c.367A>C (p.Thr123Pro)
|
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.37-113T>G
|
|
|
NM_017841.4(SDHAF2):c.37-5T>C
|
|
|
NM_017841.4(SDHAF2):c.37-8del
|
rs1862008777
|
|
NM_017841.4(SDHAF2):c.370+11T>C
|
|
|
NM_017841.4(SDHAF2):c.370+12G>A
|
rs886048415
|
|
NM_017841.4(SDHAF2):c.370+1G>A
|
|
|
NM_017841.4(SDHAF2):c.370+2T>A
|
rs770444026
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
NM_017841.4(SDHAF2):c.370+6G>A
|
rs1565128722
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
NM_017841.4(SDHAF2):c.37A>T (p.Met13Leu)
|
rs1361460244
|
|
NM_017841.4(SDHAF2):c.382G>A (p.Ala128Thr)
|
|
|
NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro)
|
rs1006514566
|
|
NM_017841.4(SDHAF2):c.383C>T (p.Ala128Val)
|
rs1554985400
|
|
NM_017841.4(SDHAF2):c.385C>T (p.Pro129Ser)
|
rs1060503391
|
|
NM_017841.4(SDHAF2):c.396del (p.Phe132fs)
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
NM_017841.4(SDHAF2):c.3G>A (p.Met1Ile)
|
rs1861835884
|
|
NM_017841.4(SDHAF2):c.401A>G (p.Asn134Ser)
|
rs2134901967
|
|
NM_017841.4(SDHAF2):c.405A>C (p.Glu135Asp)
|
rs1862132038
|
|
NM_017841.4(SDHAF2):c.406G>A (p.Val136Ile)
|
rs1862132068
|
|
NM_017841.4(SDHAF2):c.409A>G (p.Met137Val)
|
|
|
NM_017841.4(SDHAF2):c.410T>C (p.Met137Thr)
|
|
|
NM_017841.4(SDHAF2):c.410T>G (p.Met137Arg)
|
rs367574730
|
|
NM_017841.4(SDHAF2):c.412G>C (p.Ala138Pro)
|
|
|
NM_017841.4(SDHAF2):c.416T>C (p.Leu139Pro)
|
|
|
NM_017841.4(SDHAF2):c.422G>A (p.Arg141Lys)
|
rs2134902022
|
|
NM_017841.4(SDHAF2):c.424G>T (p.Asp142Tyr)
|
|
|
NM_017841.4(SDHAF2):c.436AACAAA[1] (p.146NK[1])
|
rs1862132626
|
|
NM_017841.4(SDHAF2):c.436AACAAA[3] (p.146NK[3])
|
rs1862132626
|
|
NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser)
|
rs2134902041
|
|
NM_017841.4(SDHAF2):c.43G>C (p.Ala15Pro)
|
rs1002894711
|
|
NM_017841.4(SDHAF2):c.43G>T (p.Ala15Ser)
|
rs1002894711
|
|
NM_017841.4(SDHAF2):c.443del (p.Asn148fs)
|
rs1002286076
|
|
NM_017841.4(SDHAF2):c.444C>A (p.Asn148Lys)
|
|
|
NM_017841.4(SDHAF2):c.444_447del (p.Asn148fs)
|
rs1862132755
|
|
NM_017841.4(SDHAF2):c.445A>G (p.Lys149Glu)
|
|
|
NM_017841.4(SDHAF2):c.446A>C (p.Lys149Thr)
|
rs1862132865
|
|
NM_017841.4(SDHAF2):c.446A>G (p.Lys149Arg)
|
rs1862132865
|
|
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs)
|
rs772219112
|
|
NM_017841.4(SDHAF2):c.448G>A (p.Glu150Lys)
|
rs1300630237
|
|
NM_017841.4(SDHAF2):c.448G>C (p.Glu150Gln)
|
rs1300630237
|
|
NM_017841.4(SDHAF2):c.449A>G (p.Glu150Gly)
|
rs1363376859
|
|
NM_017841.4(SDHAF2):c.450G>T (p.Glu150Asp)
|
|
|
NM_017841.4(SDHAF2):c.451C>T (p.Gln151Ter)
|
rs370174263
|
|
NM_017841.4(SDHAF2):c.452A>G (p.Gln151Arg)
|
|
|
NM_017841.4(SDHAF2):c.455G>C (p.Arg152Thr)
|
|
|
NM_017841.4(SDHAF2):c.458T>C (p.Leu153Pro)
|
rs753711279
|
|
NM_017841.4(SDHAF2):c.464C>T (p.Ala155Val)
|
rs1245083102
|
|
NM_017841.4(SDHAF2):c.466C>T (p.Pro156Ser)
|
rs1862133442
|
|
NM_017841.4(SDHAF2):c.467C>T (p.Pro156Leu)
|
|
|
NM_017841.4(SDHAF2):c.46C>G (p.Leu16Val)
|
rs1312422519
|
|
NM_017841.4(SDHAF2):c.473T>C (p.Leu158Pro)
|
rs1862133549
|
|
NM_017841.4(SDHAF2):c.478T>C (p.Tyr160His)
|
rs2134902155
|
|
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)
|
|
|
NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)
|
|
|
NM_017841.4(SDHAF2):c.480C>G (p.Tyr160Ter)
|
|
|
NM_017841.4(SDHAF2):c.488A>C (p.Glu163Ala)
|
|
|
NM_017841.4(SDHAF2):c.497G>T (p.Arg166Leu)
|
|
|
NM_017841.4(SDHAF2):c.49T>C (p.Ser17Pro)
|
|
|
NM_017841.4(SDHAF2):c.4G>A (p.Ala2Thr)
|
|
|
NM_017841.4(SDHAF2):c.501A>G (p.Ter167Trp)
|
|
|
NM_017841.4(SDHAF2):c.50C>T (p.Ser17Leu)
|
|
|
NM_017841.4(SDHAF2):c.53G>A (p.Arg18Lys)
|
rs1862009340
|
|
NM_017841.4(SDHAF2):c.59G>A (p.Ser20Asn)
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
NM_017841.4(SDHAF2):c.5C>T (p.Ala2Val)
|
|
|
NM_017841.4(SDHAF2):c.60C>A (p.Ser20Arg)
|
rs1565128479
|
|
NM_017841.4(SDHAF2):c.62T>G (p.Leu21Arg)
|
|
|
NM_017841.4(SDHAF2):c.66G>T (p.Leu22Phe)
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
NM_017841.4(SDHAF2):c.79A>G (p.Ser27Gly)
|
rs2134892157
|
|
NM_017841.4(SDHAF2):c.82G>A (p.Val28Met)
|
rs1303104521
|
|
NM_017841.4(SDHAF2):c.83T>A (p.Val28Glu)
|
rs1590764751
|
|
NM_017841.4(SDHAF2):c.83T>G (p.Val28Gly)
|
rs1590764751
|
|
NM_017841.4(SDHAF2):c.88T>C (p.Ser30Pro)
|
|
|
NM_017841.4(SDHAF2):c.98G>T (p.Arg33Leu)
|
rs777442412
|
|
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.100G>A (p.Ala34Thr)
|
rs1553437740
|
|
NM_017849.4(TMEM127):c.101C>A (p.Ala34Asp)
|
rs1451389209
|
|
NM_017849.4(TMEM127):c.104T>C (p.Leu35Pro)
|
|
|
NM_017849.4(TMEM127):c.106C>T (p.Pro36Ser)
|
|
|
NM_017849.4(TMEM127):c.109_120dup (p.Gly37_Ser40dup)
|
rs2104307941
|
|
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
|
|
|
NM_017849.4(TMEM127):c.112G>A (p.Ala38Thr)
|
|
|
NM_017849.4(TMEM127):c.112G>C (p.Ala38Pro)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.116T>C (p.Leu39Pro)
|
rs1684392845
|
|
NM_017849.4(TMEM127):c.116T>G (p.Leu39Arg)
|
rs1684392845
|
|
NM_017849.4(TMEM127):c.118T>C (p.Ser40Pro)
|
|
|
NM_017849.4(TMEM127):c.119C>T (p.Ser40Phe)
|
rs1684392721
|
|
NM_017849.4(TMEM127):c.11C>T (p.Pro4Leu)
|
|
|
NM_017849.4(TMEM127):c.121A>T (p.Ile41Phe)
|
|
|
NM_017849.4(TMEM127):c.123C>G (p.Ile41Met)
|
rs1573977845
|
|
NM_017849.4(TMEM127):c.124A>C (p.Thr42Pro)
|
|
|
NM_017849.4(TMEM127):c.125C>G (p.Thr42Arg)
|
rs1684392400
|
|
NM_017849.4(TMEM127):c.127G>A (p.Ala43Thr)
|
rs2104307898
|
|
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu)
|
rs1684392280
|
|
NM_017849.4(TMEM127):c.128C>G (p.Ala43Gly)
|
|
|
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
|
|
|
NM_017849.4(TMEM127):c.131T>C (p.Leu44Pro)
|
|
|
NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)
|
|
|
NM_017849.4(TMEM127):c.134G>T (p.Cys45Phe)
|
rs1684391872
|
|
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser)
|
rs144659242
|
|
NM_017849.4(TMEM127):c.137C>G (p.Thr46Ser)
|
rs1327376770
|
|
NM_017849.4(TMEM127):c.139G>A (p.Ala47Thr)
|
rs2104307805
|
|
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
|
rs786202314
|
|
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp)
|
rs1022275292
|
|
NM_017849.4(TMEM127):c.140C>T (p.Ala47Val)
|
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.148G>A (p.Glu50Lys)
|
rs1437924634
|
|
NM_017849.4(TMEM127):c.14G>A (p.Gly5Glu)
|
|
|
NM_017849.4(TMEM127):c.151C>G (p.Pro51Ala)
|
rs2104307726
|
|
NM_017849.4(TMEM127):c.152C>G (p.Pro51Arg)
|
rs1573977765
|
|
NM_017849.4(TMEM127):c.154G>A (p.Ala52Thr)
|
rs767257269
|
|
NM_017849.4(TMEM127):c.155C>G (p.Ala52Gly)
|
|
|
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)
|
rs1684390862
|
|
NM_017849.4(TMEM127):c.159G>T (p.Trp53Cys)
|
|
|
NM_017849.4(TMEM127):c.163C>T (p.His55Tyr)
|
|
|
NM_017849.4(TMEM127):c.164A>C (p.His55Pro)
|
rs894041563
|
|
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn)
|
rs1177862234
|
|
NM_017849.4(TMEM127):c.16G>A (p.Gly6Ser)
|
|
|
NM_017849.4(TMEM127):c.171C>G (p.His57Gln)
|
rs1573977723
|
|
NM_017849.4(TMEM127):c.173G>A (p.Gly58Glu)
|
rs1684390081
|
|
NM_017849.4(TMEM127):c.176G>A (p.Gly59Asp)
|
|
|
NM_017849.4(TMEM127):c.176G>T (p.Gly59Val)
|
rs1684390010
|
|
NM_017849.4(TMEM127):c.179C>A (p.Thr60Asn)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.179C>T (p.Thr60Ile)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.17G>T (p.Gly6Val)
|
|
|
NM_017849.4(TMEM127):c.181T>A (p.Cys61Ser)
|
|
|
NM_017849.4(TMEM127):c.182G>A (p.Cys61Tyr)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.185C>G (p.Ser62Trp)
|
|
|
NM_017849.4(TMEM127):c.185C>T (p.Ser62Leu)
|
rs1248364576
|
|
NM_017849.4(TMEM127):c.187C>A (p.Arg63Ser)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.187C>T (p.Arg63Cys)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.188G>A (p.Arg63His)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.188G>T (p.Arg63Leu)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.191A>G (p.Gln64Arg)
|
|
|
NM_017849.4(TMEM127):c.193G>A (p.Glu65Lys)
|
|
|
NM_017849.4(TMEM127):c.194A>C (p.Glu65Ala)
|
|
|
NM_017849.4(TMEM127):c.194A>G (p.Glu65Gly)
|
|
|
NM_017849.4(TMEM127):c.196C>G (p.Leu66Val)
|
rs1211097710
|
|
NM_017849.4(TMEM127):c.199G>A (p.Gly67Arg)
|
|
|
NM_017849.4(TMEM127):c.19G>T (p.Ala7Ser)
|
|
|
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val)
|
rs1573977675
|
|
NM_017849.4(TMEM127):c.20C>G (p.Ala7Gly)
|
rs1357430519
|
|
NM_017849.4(TMEM127):c.211G>C (p.Val71Leu)
|
|
|
NM_017849.4(TMEM127):c.212T>A (p.Val71Glu)
|
rs1553437719
|
|
NM_017849.4(TMEM127):c.216G>A (p.Leu72=)
|
|
|
NM_017849.4(TMEM127):c.218G>A (p.Gly73Asp)
|
|
|
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala)
|
rs1304152721
|
|
NM_017849.4(TMEM127):c.223G>A (p.Val75Met)
|
rs2104307262
|
|
NM_017849.4(TMEM127):c.224T>A (p.Val75Glu)
|
rs2104307256
|
|
NM_017849.4(TMEM127):c.226C>T (p.His76Tyr)
|
|
|
NM_017849.4(TMEM127):c.228C>A (p.His76Gln)
|
rs1060500599
|
|
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val)
|
rs1436382974
|
|
NM_017849.4(TMEM127):c.23G>T (p.Gly8Val)
|
rs1573978044
|
|
NM_017849.4(TMEM127):c.244+3G>C
|
rs1472610237
|
|
NM_017849.4(TMEM127):c.244+5G>A
|
rs1684386631
|
|
NM_017849.4(TMEM127):c.244+6G>A
|
|
|
NM_017849.4(TMEM127):c.245-10C>G
|
rs1573970399
|
|
NM_017849.4(TMEM127):c.245-6C>G
|
rs1573970396
|
|
NM_017849.4(TMEM127):c.249C>A (p.Phe83Leu)
|
|
|
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
|
rs1684396239
|
|
NM_017849.4(TMEM127):c.250T>C (p.Cys84Arg)
|
|
|
NM_017849.4(TMEM127):c.251G>T (p.Cys84Phe)
|
rs1684175500
|
|
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu)
|
rs771261665
|
|
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)
|
|
|
NM_017849.4(TMEM127):c.265A>G (p.Thr89Ala)
|
rs1573970344
|
|
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.271C>A (p.Leu91Met)
|
rs1684174363
|
|
NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln)
|
rs775019246
|
|
NM_017849.4(TMEM127):c.278T>C (p.Leu93Pro)
|
|
|
NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)
|
|
|
NM_017849.4(TMEM127):c.281G>T (p.Arg94Leu)
|
rs746831347
|
|
NM_017849.4(TMEM127):c.283G>A (p.Val95Ile)
|
rs2104287727
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.298T>A (p.Cys100Ser)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298T>C (p.Cys100Arg)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298_303dup (p.Phe101_Leu102insCysPhe)
|
|
|
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
|
|
|
NM_017849.4(TMEM127):c.302T>C (p.Phe101Ser)
|
|
|
NM_017849.4(TMEM127):c.303C>G (p.Phe101Leu)
|
|
|
NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg)
|
|
|
NM_017849.4(TMEM127):c.307G>A (p.Gly103Ser)
|
rs2104287545
|
|
NM_017849.4(TMEM127):c.308G>A (p.Gly103Asp)
|
rs1313510506
|
|
NM_017849.4(TMEM127):c.312C>G (p.Ile104Met)
|
rs2104287512
|
|
NM_017849.4(TMEM127):c.313C>G (p.Leu105Val)
|
|
|
NM_017849.4(TMEM127):c.314T>G (p.Leu105Arg)
|
rs766918841
|
|
NM_017849.4(TMEM127):c.31G>A (p.Gly11Ser)
|
|
|
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)
|
rs992633976
|
|
NM_017849.4(TMEM127):c.323T>C (p.Leu108Pro)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.323T>G (p.Leu108Arg)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe)
|
rs1684172006
|
|
NM_017849.4(TMEM127):c.328G>C (p.Ala110Pro)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.328G>T (p.Ala110Ser)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.32G>A (p.Gly11Asp)
|
rs773493345
|
|
NM_017849.4(TMEM127):c.331T>C (p.Phe111Leu)
|
rs1558752478
|
|
NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser)
|
|
|
NM_017849.4(TMEM127):c.332T>G (p.Phe111Cys)
|
rs2104287330
|
|
NM_017849.4(TMEM127):c.335T>C (p.Leu112Pro)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.335T>G (p.Leu112Arg)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.337C>A (p.Leu113Met)
|
rs2104287288
|
|
NM_017849.4(TMEM127):c.338T>A (p.Leu113Gln)
|
|
|
NM_017849.4(TMEM127):c.338T>C (p.Leu113Pro)
|
|
|
NM_017849.4(TMEM127):c.338T>G (p.Leu113Arg)
|
|
|
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
|
|
|
NM_017849.4(TMEM127):c.341A>T (p.Asp114Val)
|
rs2104287263
|
|
NM_017849.4(TMEM127):c.343G>A (p.Val115Ile)
|
rs930453941
|
|
NM_017849.4(TMEM127):c.34G>A (p.Gly12Arg)
|
rs1684396039
|
|
NM_017849.4(TMEM127):c.352C>T (p.Pro118Ser)
|
|
|
NM_017849.4(TMEM127):c.353C>A (p.Pro118Gln)
|
|
|
NM_017849.4(TMEM127):c.359A>G (p.His120Arg)
|
rs745385741
|
|
NM_017849.4(TMEM127):c.364G>A (p.Ala122Thr)
|
rs1553436990
|
|
NM_017849.4(TMEM127):c.365C>T (p.Ala122Val)
|
|
|
NM_017849.4(TMEM127):c.371A>G (p.Lys124Arg)
|
rs377430566
|
|
NM_017849.4(TMEM127):c.375C>G (p.Ile125Met)
|
|
|
NM_017849.4(TMEM127):c.376A>T (p.Thr126Ser)
|
rs1684169726
|
|
NM_017849.4(TMEM127):c.378TCG[1] (p.Arg128del)
|
|
|
NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)
|
|
|
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
|
|
|
NM_017849.4(TMEM127):c.380G>C (p.Arg127Pro)
|
|
|
NM_017849.4(TMEM127):c.382C>T (p.Arg128Cys)
|
rs759261535
|
|
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu)
|
rs779277417
|
|
NM_017849.4(TMEM127):c.385T>C (p.Tyr129His)
|
|
|
NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)
|
|
|
NM_017849.4(TMEM127):c.389C>A (p.Ala130Asp)
|
|
|
NM_017849.4(TMEM127):c.391T>A (p.Phe131Ile)
|
rs1573970081
|
|
NM_017849.4(TMEM127):c.394G>T (p.Ala132Ser)
|
|
|
NM_017849.4(TMEM127):c.397C>G (p.His133Asp)
|
|
|
NM_017849.4(TMEM127):c.397C>T (p.His133Tyr)
|
|
|
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn)
|
rs1573970063
|
|
NM_017849.4(TMEM127):c.401T>C (p.Ile134Thr)
|
|
|
NM_017849.4(TMEM127):c.403C>A (p.Leu135Ile)
|
rs751854293
|
|
NM_017849.4(TMEM127):c.404T>C (p.Leu135Pro)
|
rs1347547225
|
|
NM_017849.4(TMEM127):c.408G>C (p.Thr136=)
|
rs143522428
|
|
NM_017849.4(TMEM127):c.409+5G>A
|
|
|
NM_017849.4(TMEM127):c.40C>G (p.Arg14Gly)
|
rs1684395815
|
|
NM_017849.4(TMEM127):c.40C>T (p.Arg14Trp)
|
|
|
NM_017849.4(TMEM127):c.410-265_625del
|
rs2104283392
|
|
NM_017849.4(TMEM127):c.412C>G (p.Leu138Val)
|
rs1684153047
|
|
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
|
|
|
NM_017849.4(TMEM127):c.418T>A (p.Cys140Ser)
|
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn)
|
|
|
NM_017849.4(TMEM127):c.430A>T (p.Ile144Phe)
|
rs896909534
|
|
NM_017849.4(TMEM127):c.431T>C (p.Ile144Thr)
|
rs1036821113
|
|
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
|
|
|
NM_017849.4(TMEM127):c.43C>G (p.Arg15Gly)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
NM_017849.4(TMEM127):c.446G>C (p.Trp149Ser)
|
|
|
NM_017849.4(TMEM127):c.448G>C (p.Ala150Pro)
|
|
|
NM_017849.4(TMEM127):c.449C>T (p.Ala150Val)
|
|
|
NM_017849.4(TMEM127):c.44G>A (p.Arg15Gln)
|
|
|
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)
|
rs2104308338
|
|
NM_017849.4(TMEM127):c.466G>C (p.Ala156Pro)
|
|
|
NM_017849.4(TMEM127):c.471GCA[5] (p.Gln160dup)
|
rs777748763
|
|
NM_017849.4(TMEM127):c.472C>A (p.Gln158Lys)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.473A>G (p.Gln158Arg)
|
rs1231103743
|
|
NM_017849.4(TMEM127):c.482A>G (p.His161Arg)
|
rs778839133
|
|
NM_017849.4(TMEM127):c.48G>C (p.Arg16Ser)
|
|
|
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His)
|
rs1553436892
|
|
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg)
|
rs372120755
|
|
NM_017849.4(TMEM127):c.4T>C (p.Tyr2His)
|
rs2104308652
|
|
NM_017849.4(TMEM127):c.4T>G (p.Tyr2Asp)
|
|
|
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe)
|
rs994504317
|
|
NM_017849.4(TMEM127):c.504G>C (p.Gln168His)
|
|
|
NM_017849.4(TMEM127):c.507C>G (p.Val169=)
|
rs1573969264
|
|
NM_017849.4(TMEM127):c.50G>T (p.Ser17Ile)
|
rs1223613323
|
|
NM_017849.4(TMEM127):c.511G>C (p.Val171Leu)
|
|
|
NM_017849.4(TMEM127):c.515C>T (p.Thr172Ile)
|
|
|
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys)
|
rs1684149438
|
|
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu)
|
rs758676810
|
|
NM_017849.4(TMEM127):c.523G>C (p.Val175Leu)
|
rs149034651
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.527G>T (p.Ser176Ile)
|
rs2104284475
|
|
NM_017849.4(TMEM127):c.536T>C (p.Leu179Pro)
|
rs1390368617
|
|
NM_017849.4(TMEM127):c.538G>T (p.Val180Leu)
|
rs767100341
|
|
NM_017849.4(TMEM127):c.539dup (p.Ala181fs)
|
|
|
NM_017849.4(TMEM127):c.53C>G (p.Pro18Arg)
|
|
|
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
|
rs761885719
|
|
NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser)
|
rs1060500597
|
|
NM_017849.4(TMEM127):c.550G>C (p.Gly184Arg)
|
rs1060500597
|
|
NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)
|
|
|
NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg)
|
rs1553436865
|
|
NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)
|
|
|
NM_017849.4(TMEM127):c.556G>T (p.Ala186Ser)
|
|
|
NM_017849.4(TMEM127):c.559T>C (p.Ser187Pro)
|
|
|
NM_017849.4(TMEM127):c.55G>A (p.Gly19Arg)
|
rs774322340
|
|
NM_017849.4(TMEM127):c.55G>C (p.Gly19Arg)
|
rs774322340
|
|
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu)
|
rs1684147520
|
|
NM_017849.4(TMEM127):c.565C>G (p.Leu189Val)
|
rs146965678
|
|
NM_017849.4(TMEM127):c.566T>C (p.Leu189Pro)
|
|
|
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
|
|
NM_017849.4(TMEM127):c.569C>A (p.Ala190Asp)
|
|
|
NM_017849.4(TMEM127):c.569C>G (p.Ala190Gly)
|
rs2104284000
|
|
NM_017849.4(TMEM127):c.574G>T (p.Ala192Ser)
|
|
|
NM_017849.4(TMEM127):c.575C>T (p.Ala192Val)
|
|
|
NM_017849.4(TMEM127):c.577G>A (p.Ala193Thr)
|
|
|
NM_017849.4(TMEM127):c.583C>T (p.Leu195Phe)
|
rs2104283802
|
|
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)
|
rs1573969123
|
|
NM_017849.4(TMEM127):c.584T>G (p.Leu195Arg)
|
rs1573969123
|
|
NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)
|
rs1684146217
|
|
NM_017849.4(TMEM127):c.593A>G (p.His198Arg)
|
|
|
NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe)
|
rs1573969106
|
|
NM_017849.4(TMEM127):c.597C>A (p.Tyr199Ter)
|
rs1684145823
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)
|
rs1684144587
|
|
NM_017849.4(TMEM127):c.601A>T (p.Thr201Ser)
|
rs1684144587
|
|
NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys)
|
rs1429621198
|
|
NM_017849.4(TMEM127):c.605A>G (p.Glu202Gly)
|
|
|
NM_017849.4(TMEM127):c.610G>A (p.Glu204Lys)
|
|
|
NM_017849.4(TMEM127):c.612G>C (p.Glu204Asp)
|
rs1684144140
|
|
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
|
rs1684144086
|
|
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
|
rs1684143889
|
|
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
|
|
|
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val)
|
rs1285100095
|
|
NM_017849.4(TMEM127):c.634T>C (p.Ser212Pro)
|
rs775177724
|
|
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
|
|
|
NM_017849.4(TMEM127):c.63C>G (p.Ser21Arg)
|
rs1573977946
|
|
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
|
|
|
NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly)
|
rs1573968995
|
|
NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)
|
|
|
NM_017849.4(TMEM127):c.648_649dup (p.Asn217fs)
|
rs2104283140
|
|
NM_017849.4(TMEM127):c.64G>A (p.Ala22Thr)
|
rs1273425757
|
|
NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys)
|
rs746291260
|
|
NM_017849.4(TMEM127):c.656C>A (p.Pro219His)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys)
|
rs2104283046
|
|
NM_017849.4(TMEM127):c.65C>G (p.Ala22Gly)
|
|
|
NM_017849.4(TMEM127):c.65C>T (p.Ala22Val)
|
rs1573977937
|
|
NM_017849.4(TMEM127):c.661C>G (p.Pro221Ala)
|
|
|
NM_017849.4(TMEM127):c.664G>A (p.Ala222Thr)
|
|
|
NM_017849.4(TMEM127):c.664G>T (p.Ala222Ser)
|
|
|
NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys)
|
rs779910556
|
|
NM_017849.4(TMEM127):c.669A>T (p.Glu223Asp)
|
rs1431574710
|
|
NM_017849.4(TMEM127):c.671A>G (p.Tyr224Cys)
|
rs1060500598
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
|
NM_017849.4(TMEM127):c.674del (p.Glu225fs)
|
rs2104282864
|
|
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp)
|
rs779189359
|
|
NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)
|
|
|
NM_017849.4(TMEM127):c.679A>G (p.Ile227Val)
|
|
|
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)
|
rs1684140655
|
|
NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys)
|
|
|
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)
|
rs1684140585
|
|
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)
|
rs1684140382
|
|
NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)
|
|
|
NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser)
|
|
|
NM_017849.4(TMEM127):c.698C>A (p.Pro233His)
|
|
|
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala)
|
rs780992481
|
|
NM_017849.4(TMEM127):c.701dup (p.Ala235fs)
|
|
|
NM_017849.4(TMEM127):c.702del (p.Ala235fs)
|
rs2104282584
|
|
NM_017849.4(TMEM127):c.703G>C (p.Ala235Pro)
|
|
|
NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter)
|
|
|
NM_017849.4(TMEM127):c.710C>T (p.Thr237Ile)
|
|
|
NM_017849.4(TMEM127):c.712C>T (p.Pro238Ser)
|
rs1184921725
|
|
NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys)
|
|
|
NM_017849.4(TMEM127):c.717A>C (p.Ter239Tyr)
|
|
|
NM_017849.4(TMEM127):c.77A>G (p.Gln26Arg)
|
|
|
NM_017849.4(TMEM127):c.78G>T (p.Gln26His)
|
|
|
NM_017849.4(TMEM127):c.79C>T (p.Pro27Ser)
|
|
|
NM_017849.4(TMEM127):c.80C>G (p.Pro27Arg)
|
rs983504110
|
|
NM_017849.4(TMEM127):c.86G>A (p.Arg29His)
|
|
|
NM_017849.4(TMEM127):c.89G>A (p.Ser30Asn)
|
|
|
NM_017849.4(TMEM127):c.89G>T (p.Ser30Ile)
|
rs2104308085
|
|
NM_017849.4(TMEM127):c.8C>G (p.Ala3Gly)
|
|
|
NM_017849.4(TMEM127):c.90C>G (p.Ser30Arg)
|
rs2104308073
|
|
NM_017849.4(TMEM127):c.94G>A (p.Ala32Thr)
|
rs770347064
|
|
NM_017849.4(TMEM127):c.94G>T (p.Ala32Ser)
|
rs770347064
|
|
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.1029C>G (p.Tyr343Ter)
|
rs375894182
|
|
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp)
|
rs2141243964
|
|
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys)
|
rs1567508720
|
|
NM_021098.3(CACNA1H):c.1119+13A>T
|
rs1967734739
|
|
NM_021098.3(CACNA1H):c.1120-3C>A
|
|
|
NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu)
|
|
|
NM_021098.3(CACNA1H):c.1175C>G (p.Ser392Ter)
|
|
|
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu)
|
|
|
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys)
|
|
|
NM_021098.3(CACNA1H):c.1213-10C>G
|
rs373660548
|
|
NM_021098.3(CACNA1H):c.1213-18C>A
|
rs57432507
|
|
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=)
|
|
|
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser)
|
rs779840429
|
|
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met)
|
rs370007023
|
|
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
|
rs988908130
|
|
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln)
|
rs1452763580
|
|
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs)
|
rs1596408210
|
|
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val)
|
rs1227599612
|
|
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
|
|
|
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)
|
rs983437887
|
|
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser)
|
rs771750212
|
|
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu)
|
rs746803902
|
|
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly)
|
rs770949848
|
|
NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp)
|
rs1371342942
|
|
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn)
|
rs1041969243
|
|
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn)
|
rs2141256263
|
|
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val)
|
rs1967962877
|
|
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met)
|
rs2141256394
|
|
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val)
|
rs1555498163
|
|
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val)
|
rs918496310
|
|
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe)
|
rs911317802
|
|
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu)
|
|
|
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala)
|
rs935642453
|
|
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser)
|
rs1208126657
|
|
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)
|
|
|
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del)
|
rs1967981000
|
|
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val)
|
rs2141257602
|
|
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
|
|
|
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn)
|
rs1057519554
|
|
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup)
|
rs760736442
|
|
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=)
|
|
|
NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu)
|
|
|
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)
|
|
|
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser)
|
|
|
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val)
|
rs1249878702
|
|
NM_021098.3(CACNA1H):c.1669C>A (p.Pro557Thr)
|
|
|
NM_021098.3(CACNA1H):c.1700C>T (p.Pro567Leu)
|
rs2141259768
|
|
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs)
|
rs2141259958
|
|
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn)
|
rs1968018663
|
|
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His)
|
|
|
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val)
|
rs1968020467
|
|
NM_021098.3(CACNA1H):c.1763G>C (p.Arg588Thr)
|
rs1439734393
|
|
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del)
|
rs762960317
|
|
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del)
|
rs1968031277
|
|
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del)
|
rs773399229
|
|
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del)
|
rs1968032311
|
|
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile)
|
rs890994381
|
|
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)
|
|
|
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)
|
|
|
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe)
|
|
|
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val)
|
|
|
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu)
|
rs781017160
|
|
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
|
|
|
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs)
|
rs2141261620
|
|
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
|
|
|
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs)
|
|
|
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val)
|
rs867292141
|
|
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro)
|
rs1433856447
|
|
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn)
|
rs1453581368
|
|
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly)
|
|
|
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)
|
|
|
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)
|
|
|
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln)
|
rs61734410
|
|
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser)
|
rs1968059158
|
|
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg)
|
rs761227158
|
|
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln)
|
rs771171443
|
|
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln)
|
|
|
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)
|
|
|
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg)
|
rs778111473
|
|
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del)
|
rs753052647
|
|
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met)
|
|
|
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met)
|
rs140979551
|
|
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile)
|
|
|
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly)
|
|
|
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala)
|
rs1968071552
|
|
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala)
|
|
|
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala)
|
|
|
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser)
|
rs1057520145
|
|
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs)
|
|
|
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg)
|
|
|
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala)
|
rs2141277713
|
|
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile)
|
|
|
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser)
|
|
|
NM_021098.3(CACNA1H):c.2051C>G (p.Pro684Arg)
|
|
|
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro)
|
rs2141277907
|
|
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
|
rs1596418694
|
|
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)
|
|
|
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg)
|
rs2141278256
|
|
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
|
rs1596419043
|
|
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)
|
rs774748739
|
|
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp)
|
|
|
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)
|
rs781150755
|
|
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
|
rs1596271034
|
|
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu)
|
|
|
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
|
rs1555513044
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
|
rs1402942281
|
|
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His)
|
rs377176081
|
|
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=)
|
rs774505050
|
|
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala)
|
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln)
|
|
|
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala)
|
rs767816214
|
|
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs)
|
|
|
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)
|
|
|
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser)
|
rs1428706132
|
|
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly)
|
rs2141280761
|
|
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg)
|
|
|
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
|
rs1596421279
|
|
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser)
|
|
|
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)
|
rs1473122688
|
|
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser)
|
rs747178657
|
|
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
|
|
|
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly)
|
rs3751664
|
|
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del)
|
rs1420201619
|
|
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn)
|
rs1567521021
|
|
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile)
|
rs2141281744
|
|
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr)
|
rs2141281763
|
|
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe)
|
|
|
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu)
|
|
|
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln)
|
rs1555513209
|
|
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2451+3G>A
|
rs1596422577
|
|
NM_021098.3(CACNA1H):c.2451+4C>G
|
rs764605459
|
|
NM_021098.3(CACNA1H):c.2451+5G>A
|
|
|
NM_021098.3(CACNA1H):c.2452-3C>T
|
rs372018213
|
|
NM_021098.3(CACNA1H):c.2452-5T>A
|
rs1471116016
|
|
NM_021098.3(CACNA1H):c.2452-5T>G
|
|
|
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro)
|
rs2141288117
|
|
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs)
|
|
|
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly)
|
|
|
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile)
|
rs1404959892
|
|
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly)
|
|
|
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys)
|
|
|
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val)
|
|
|
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln)
|
rs1223248915
|
|
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg)
|
|
|
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
|
rs1596428768
|
|
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
|
rs1596428784
|
|
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=)
|
rs2141289134
|
|
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys)
|
rs2141289290
|
|
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)
|
|
|
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser)
|
rs1968541498
|
|
NM_021098.3(CACNA1H):c.2603+5G>A
|
rs1968547662
|
|
NM_021098.3(CACNA1H):c.2603+5G>T
|
|
|
NM_021098.3(CACNA1H):c.2604-3C>T
|
rs1489658003
|
|
NM_021098.3(CACNA1H):c.260C>T (p.Thr87Met)
|
|
|
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)
|
|
|
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met)
|
rs375605628
|
|
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly)
|
rs547376627
|
|
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln)
|
rs1375491341
|
|
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile)
|
|
|
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln)
|
|
|
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro)
|
|
|
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu)
|
rs2141297110
|
|
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu)
|
|
|
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu)
|
|
|
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr)
|
|
|
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
|
rs1043511168
|
|
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp)
|
|
|
NM_021098.3(CACNA1H):c.2770C>T (p.Leu924Phe)
|
|
|
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu)
|
|
|
NM_021098.3(CACNA1H):c.2789+6C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-24_2790-2del
|
rs767709133
|
|
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile)
|
|
|
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe)
|
rs1471872554
|
|
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile)
|
|
|
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile)
|
|
|
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser)
|
rs1339365288
|
|
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn)
|
|
|
NM_021098.3(CACNA1H):c.2858A>C (p.Asp953Ala)
|
|
|
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu)
|
|
|
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
|
|
|
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val)
|
rs1299774056
|
|
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys)
|
|
|
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val)
|
rs1968823371
|
|
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile)
|
|
|
NM_021098.3(CACNA1H):c.2932G>A (p.Val978Met)
|
|
|
NM_021098.3(CACNA1H):c.2946C>G (p.Asn982Lys)
|
|
|
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val)
|
rs766946572
|
|
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile)
|
rs891172463
|
|
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
|
|
|
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val)
|
rs1265393669
|
|
NM_021098.3(CACNA1H):c.299+7T>A
|
|
|
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe)
|
rs768438272
|
|
NM_021098.3(CACNA1H):c.300-3C>T
|
rs1596380517
|
|
NM_021098.3(CACNA1H):c.3011A>G (p.Tyr1004Cys)
|
|
|
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe)
|
rs1242224134
|
|
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val)
|
|
|
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly)
|
|
|
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val)
|
rs2141309026
|
|
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala)
|
|
|
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu)
|
rs771994752
|
|
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
|
|
|
NM_021098.3(CACNA1H):c.3084C>G (p.Asp1028Glu)
|
rs1345041119
|
|
NM_021098.3(CACNA1H):c.3104C>T (p.Ser1035Leu)
|
|
|
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu)
|
rs374946880
|
|
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser)
|
|
|
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln)
|
|
|
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys)
|
rs1555514736
|
|
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)
|
|
|
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del)
|
rs1555514742
|
|
NM_021098.3(CACNA1H):c.3154+4C>A
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>G
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-7C>G
|
rs376008324
|
|
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met)
|
rs369966669
|
|
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser)
|
rs1968957429
|
|
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn)
|
rs2141316062
|
|
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser)
|
|
|
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu)
|
rs1288170321
|
|
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val)
|
rs1368323486
|
|
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro)
|
rs776256025
|
|
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser)
|
rs1049677203
|
|
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
|
|
|
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu)
|
rs1184994482
|
|
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met)
|
rs1567531841
|
|
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
|
|
|
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_021098.3(CACNA1H):c.3317G>A (p.Gly1106Asp)
|
|
|
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
|
rs59529743
|
|
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg)
|
|
|
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)
|
|
|
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu)
|
|
|
NM_021098.3(CACNA1H):c.3363+3A>G
|
|
|
NM_021098.3(CACNA1H):c.3364-5C>A
|
rs768382135
|
|
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr)
|
rs1317286644
|
|
NM_021098.3(CACNA1H):c.3387_3395del (p.Cys1129_Pro1131del)
|
rs1255783381
|
|
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)
|
|
|
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala)
|
rs377297229
|
|
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp)
|
|
|
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr)
|
|
|
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn)
|
rs1205390921
|
|
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met)
|
rs375342465
|
|
NM_021098.3(CACNA1H):c.3445G>T (p.Gly1149Cys)
|
rs753696656
|
|
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala)
|
|
|
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro)
|
|
|
NM_021098.3(CACNA1H):c.3488G>A (p.Arg1163His)
|
|
|
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser)
|
rs753966852
|
|
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=)
|
|
|
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly)
|
rs1379085668
|
|
NM_021098.3(CACNA1H):c.3533A>G (p.Glu1178Gly)
|
rs2141327353
|
|
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly)
|
|
|
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)
|
|
|
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=)
|
rs1342020189
|
|
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr)
|
|
|
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His)
|
rs1233148543
|
|
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val)
|
rs1461904626
|
|
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter)
|
|
|
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala)
|
rs1555515661
|
|
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr)
|
rs1185269498
|
|
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe)
|
rs1969139516
|
|
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg)
|
rs746322724
|
|
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val)
|
|
|
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val)
|
rs780672769
|
|
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His)
|
rs768716174
|
|
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg)
|
rs1176658784
|
|
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del)
|
rs780993667
|
|
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro)
|
rs1969157452
|
|
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)
|
rs571145188
|
|
NM_021098.3(CACNA1H):c.3745-5C>A
|
rs1405799623
|
|
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp)
|
rs761298608
|
|
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)
|
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala)
|
rs2141335147
|
|
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
|
rs189425202
|
|
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val)
|
rs1969249888
|
|
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys)
|
|
|
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3845+3G>A
|
rs1969252611
|
|
NM_021098.3(CACNA1H):c.3846-32_3846-12del
|
|
|
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His)
|
rs748613561
|
|
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp)
|
rs1359854181
|
|
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe)
|
rs776740325
|
|
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter)
|
|
|
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)
|
|
|
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val)
|
|
|
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His)
|
rs2141338845
|
|
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
|
|
|
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile)
|
rs200904795
|
|
NM_021098.3(CACNA1H):c.3907T>C (p.Phe1303Leu)
|
rs2141339082
|
|
NM_021098.3(CACNA1H):c.3916C>G (p.Leu1306Val)
|
|
|
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe)
|
rs751450496
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)
|
|
|
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly)
|
|
|
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)
|
|
|
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His)
|
|
|
NM_021098.3(CACNA1H):c.3969+1G>A
|
rs1303395495
|
|
NM_021098.3(CACNA1H):c.3970-8C>G
|
|
|
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp)
|
rs777616508
|
|
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg)
|
rs770769436
|
|
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser)
|
rs1969322876
|
|
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met)
|
|
|
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=)
|
rs372696265
|
|
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val)
|
|
|
NM_021098.3(CACNA1H):c.4038+4C>A
|
|
|
NM_021098.3(CACNA1H):c.4038+6G>C
|
rs112068805
|
|
NM_021098.3(CACNA1H):c.4039-20_4039-19delinsAA
|
|
|
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe)
|
rs1184282257
|
|
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro)
|
|
|
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser)
|
rs1270361787
|
|
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly)
|
|
|
NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val)
|
|
|
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
|
|
|
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly)
|
rs566220434
|
|
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser)
|
|
|
NM_021098.3(CACNA1H):c.4196G>A (p.Arg1399His)
|
rs1457901172
|
|
NM_021098.3(CACNA1H):c.4223+3G>A
|
rs1241517773
|
|
NM_021098.3(CACNA1H):c.4223+6G>T
|
rs1969373645
|
|
NM_021098.3(CACNA1H):c.4224-8C>G
|
|
|
NM_021098.3(CACNA1H):c.422C>G (p.Ala141Gly)
|
|
|
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp)
|
rs759233103
|
|
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe)
|
|
|
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu)
|
rs2141197660
|
|
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)
|
|
|
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His)
|
|
|
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val)
|
|
|
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr)
|
rs2141346266
|
|
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)
|
|
|
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val)
|
rs1379672193
|
|
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile)
|
|
|
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala)
|
rs1567541260
|
|
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile)
|
|
|
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu)
|
rs777667628
|
|
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser)
|
|
|
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met)
|
rs965904368
|
|
NM_021098.3(CACNA1H):c.4350+1G>A
|
|
|
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
|
|
|
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly)
|
|
|
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser)
|
|
|
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg)
|
rs1567542033
|
|
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser)
|
rs181140276
|
|
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly)
|
|
|
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val)
|
rs750887213
|
|
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys)
|
|
|
NM_021098.3(CACNA1H):c.4476+6C>T
|
rs1969458295
|
|
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys)
|
rs1969476340
|
|
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe)
|
|
|
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn)
|
rs1969476982
|
|
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=)
|
|
|
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)
|
|
|
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=)
|
rs1969479808
|
|
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)
|
rs1966873640
|
|
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly)
|
|
|
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del)
|
rs775597863
|
|
NM_021098.3(CACNA1H):c.4566+5G>A
|
|
|
NM_021098.3(CACNA1H):c.4580A>G (p.His1527Arg)
|
rs2141351607
|
|
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser)
|
|
|
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg)
|
rs1969502459
|
|
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg)
|
rs2141351732
|
|
NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser)
|
rs2141352066
|
|
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile)
|
rs1159226662
|
|
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp)
|
rs967037376
|
|
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
|
rs558718048
|
|
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)
|
|
|
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del)
|
rs1447090901
|
|
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln)
|
|
|
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg)
|
rs1969518741
|
|
NM_021098.3(CACNA1H):c.4752G>T (p.Arg1584Ser)
|
|
|
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu)
|
rs774569737
|
|
NM_021098.3(CACNA1H):c.4759+1G>A
|
rs1406256818
|
|
NM_021098.3(CACNA1H):c.4759+4A>G
|
rs1567543703
|
|
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)
|
|
|
NM_021098.3(CACNA1H):c.4760-1G>T
|
rs1173893014
|
|
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn)
|
|
|
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala)
|
rs1555517834
|
|
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
|
rs1596462609
|
|
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu)
|
rs1969579859
|
|
NM_021098.3(CACNA1H):c.4777+1G>T
|
|
|
NM_021098.3(CACNA1H):c.4777+5C>G
|
rs370513262
|
|
NM_021098.3(CACNA1H):c.4777+6G>C
|
|
|
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe)
|
rs1555518356
|
|
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)
|
|
|
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu)
|
rs761945003
|
|
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser)
|
|
|
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)
|
rs377532485
|
|
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro)
|
|
|
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)
|
|
|
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)
|
rs119454947
|
|
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln)
|
|
|
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro)
|
rs1969748016
|
|
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe)
|
|
|
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala)
|
rs1555518486
|
|
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)
|
rs1450404169
|
|
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe)
|
rs58146518
|
|
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
|
rs1596466547
|
|
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln)
|
rs766396848
|
|
NM_021098.3(CACNA1H):c.4929+4G>A
|
rs1969758497
|
|
NM_021098.3(CACNA1H):c.4930-3C>A
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4930-3C>T
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe)
|
rs1969888724
|
|
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser)
|
rs2141374211
|
|
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr)
|
|
|
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val)
|
rs1317563201
|
|
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)
|
|
|
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp)
|
rs760740366
|
|
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)
|
|
|
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val)
|
rs755567471
|
|
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val)
|
rs2141376108
|
|
NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala)
|
rs1969920469
|
|
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter)
|
rs1555519084
|
|
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del)
|
rs1596470148
|
|
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile)
|
|
|
NM_021098.3(CACNA1H):c.5158C>T (p.Leu1720Phe)
|
|
|
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val)
|
|
|
NM_021098.3(CACNA1H):c.5173+5G>A
|
rs1567550121
|
|
NM_021098.3(CACNA1H):c.5173+9C>G
|
rs1018925405
|
|
NM_021098.3(CACNA1H):c.5174-6C>A
|
|
|
NM_021098.3(CACNA1H):c.5174-8G>A
|
rs200481928
|
|
NM_021098.3(CACNA1H):c.5198C>G (p.Thr1733Arg)
|
|
|
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser)
|
rs1567495146
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val)
|
|
|
NM_021098.3(CACNA1H):c.5255T>C (p.Leu1752Pro)
|
rs1970075682
|
|
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
|
|
|
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del)
|
rs1567552660
|
|
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val)
|
rs200775729
|
|
NM_021098.3(CACNA1H):c.5347G>A (p.Glu1783Lys)
|
rs1354832663
|
|
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln)
|
rs769283823
|
|
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr)
|
|
|
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu)
|
rs537055062
|
|
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met)
|
|
|
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg)
|
rs2141392324
|
|
NM_021098.3(CACNA1H):c.5445+4C>A
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+4C>G
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+5C>T
|
rs963438880
|
|
NM_021098.3(CACNA1H):c.5446-9C>A
|
rs1596475466
|
|
NM_021098.3(CACNA1H):c.5455C>T (p.Arg1819Cys)
|
|
|
NM_021098.3(CACNA1H):c.546-2A>G
|
|
|
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys)
|
rs1970194241
|
|
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn)
|
rs2141393648
|
|
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu)
|
|
|
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu)
|
rs763029586
|
|
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg)
|
rs202070652
|
|
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)
|
|
|
NM_021098.3(CACNA1H):c.5486_5498del (p.Leu1829fs)
|
|
|
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val)
|
rs61732194
|
|
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val)
|
|
|
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)
|
|
|
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met)
|
|
|
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup)
|
rs2141394048
|
|
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu)
|
rs986566182
|
|
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu)
|
|
|
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
|
|
|
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg)
|
rs2141394365
|
|
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg)
|
|
|
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del)
|
|
|
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)
|
|
|
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_021098.3(CACNA1H):c.5674C>A (p.Arg1892Ser)
|
rs1292896960
|
|
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu)
|
rs1175587489
|
|
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr)
|
rs1324632906
|
|
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu)
|
|
|
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)
|
|
|
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter)
|
rs1172357662
|
|
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
|
|
|
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu)
|
rs1555520320
|
|
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile)
|
rs931586782
|
|
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe)
|
rs1366597055
|
|
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu)
|
|
|
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser)
|
|
|
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu)
|
rs746487526
|
|
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)
|
|
|
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp)
|
rs1291910282
|
|
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser)
|
rs1970223117
|
|
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr)
|
rs1413245721
|
|
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala)
|
|
|
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu)
|
|
|
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val)
|
rs1970226967
|
|
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg)
|
|
|
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val)
|
rs780614055
|
|
NM_021098.3(CACNA1H):c.5887+5G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-18G>T
|
|
|
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala)
|
|
|
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg)
|
rs996694379
|
|
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys)
|
rs2141398956
|
|
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe)
|
rs550577430
|
|
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=)
|
|
|
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val)
|
|
|
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe)
|
|
|
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=)
|
|
|
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg)
|
rs753397534
|
|
NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg)
|
|
|
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)
|
|
|
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)
|
|
|
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)
|
|
|
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp)
|
|
|
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser)
|
rs72552056
|
|
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu)
|
rs368553931
|
|
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val)
|
rs1970273640
|
|
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp)
|
rs753241781
|
|
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)
|
|
|
NM_021098.3(CACNA1H):c.6048+2_6048+5del
|
rs1172256364
|
|
NM_021098.3(CACNA1H):c.6049-7C>G
|
rs1970353381
|
|
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala)
|
rs2141405874
|
|
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala)
|
|
|
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala)
|
|
|
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly)
|
rs748236037
|
|
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)
|
|
|
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val)
|
rs746778552
|
|
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala)
|
|
|
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly)
|
|
|
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
|
rs1555520783
|
|
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)
|
rs1567558436
|
|
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg)
|
|
|
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu)
|
rs2141406634
|
|
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met)
|
rs756418923
|
|
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)
|
|
|
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg)
|
rs1005279922
|
|
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu)
|
rs2141407028
|
|
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp)
|
rs373707854
|
|
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)
|
|
|
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala)
|
rs1970366026
|
|
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His)
|
rs765706404
|
|
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly)
|
rs758461760
|
|
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro)
|
rs1555520840
|
|
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp)
|
|
|
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)
|
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val)
|
|
|
NM_021098.3(CACNA1H):c.6292G>T (p.Asp2098Tyr)
|
rs763330346
|
|
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del)
|
rs1567559045
|
|
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)
|
|
|
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile)
|
rs1970373796
|
|
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp)
|
rs183014006
|
|
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu)
|
rs772154386
|
|
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val)
|
rs769490814
|
|
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp)
|
rs1970381464
|
|
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
|
|
|
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)
|
rs752385455
|
|
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=)
|
|
|
NM_021098.3(CACNA1H):c.643+3A>G
|
|
|
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro)
|
rs1970385250
|
|
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr)
|
rs1319777512
|
|
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs)
|
|
|
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln)
|
|
|
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly)
|
|
|
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp)
|
rs752621913
|
|
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys)
|
rs761679939
|
|
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=)
|
rs1171444249
|
|
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp)
|
|
|
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
|
|
|
NM_021098.3(CACNA1H):c.6526G>C (p.Glu2176Gln)
|
rs768826048
|
|
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
|
|
|
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del)
|
rs766893201
|
|
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser)
|
rs538538654
|
|
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)
|
|
|
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu)
|
|
|
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del)
|
rs763914077
|
|
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys)
|
rs1555521047
|
|
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg)
|
rs1265575905
|
|
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys)
|
rs2141410625
|
|
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)
|
|
|
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln)
|
|
|
NM_021098.3(CACNA1H):c.662C>T (p.Thr221Ile)
|
rs1368252007
|
|
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs)
|
|
|
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp)
|
|
|
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)
|
|
|
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser)
|
|
|
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala)
|
rs1596481482
|
|
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup)
|
rs2141411243
|
|
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del)
|
|
|
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg)
|
rs200606995
|
|
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
|
|
|
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn)
|
rs764148791
|
|
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs)
|
rs753624103
|
|
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser)
|
rs375586314
|
|
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg)
|
rs2141412071
|
|
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly)
|
|
|
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro)
|
|
|
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn)
|
|
|
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=)
|
rs2141412462
|
|
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His)
|
rs943817403
|
|
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val)
|
|
|
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)
|
|
|
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala)
|
rs760918600
|
|
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met)
|
|
|
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu)
|
rs1970426412
|
|
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val)
|
rs540026021
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu)
|
|
|
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
|
|
|
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr)
|
rs774338957
|
|
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly)
|
rs1970429885
|
|
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp)
|
|
|
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu)
|
rs2141413399
|
|
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val)
|
|
|
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs)
|
rs750261505
|
|
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs)
|
|
|
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg)
|
rs2141413668
|
|
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg)
|
rs1596482455
|
|
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu)
|
rs759417643
|
|
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp)
|
|
|
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)
|
rs757713867
|
|
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser)
|
|
|
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile)
|
rs1970440739
|
|
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu)
|
rs1194032246
|
|
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val)
|
|
|
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?))
|
|
|
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.718G>C (p.Val240Leu)
|
rs369630836
|
|
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del)
|
rs748582978
|
|
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val)
|
rs2151603406
|
|
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro)
|
|
|
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
|
|
|
NM_021098.3(CACNA1H):c.836A>G (p.Tyr279Cys)
|
rs1364510020
|
|
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg)
|
|
|
NM_021098.3(CACNA1H):c.875C>T (p.Ser292Phe)
|
|
|
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro)
|
rs2141242222
|
|
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu)
|
rs749305814
|
|
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser)
|
|
|
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=)
|
rs2141242375
|
|
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu)
|
rs1219214145
|
|
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg)
|
rs1195218337
|
|
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp)
|
rs867008505
|
|
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys)
|
|
|
NM_021098.3(CACNA1H):c.956G>C (p.Trp319Ser)
|
|
|
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe)
|
|
|
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)
|
|
|
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala)
|
|
|
NM_031925.3(TMEM120A):c.*313C>T
|
rs1554559685
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_130799.2(MEN1):c.-94G>A
|
rs886048480
|
|
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
|
rs1555564365
|
|
NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]
|
|
|
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)
|
rs2111899861
|
|
NR_073138.1(MAX):n.146C>G
|
rs899541680
|
|
Single allele
|
|
|
t(12;16)(q13.13;p11.2)
|
|
|
t(17;19)(q25.1;p13.3)
|
|
|