ClinVar Miner

List of variants reported as uncertain significance for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7641
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HGVS dbSNP gnomAD frequency
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)

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