ClinVar Miner

List of variants reported as likely benign for adrenal gland disorder by Invitae

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5713
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.299+14C>G rs539924701 0.00740
NM_004168.4(SDHA):c.312+20C>T rs111533078 0.00586
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_021098.3(CACNA1H):c.108G>C (p.Pro36=) rs28365126 0.00241
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870 0.00145
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His) rs56885166 0.00136
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met) rs28365119 0.00128
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr) rs112693024 0.00118
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu) rs148425779 0.00108
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser) rs187596702 0.00107
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=) rs61732194 0.00095
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_021098.3(CACNA1H):c.3617C>T (p.Pro1206Leu) rs200055979 0.00091
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_021098.3(CACNA1H):c.3364-3C>T rs57079020 0.00086
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe) rs186422070 0.00083
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln) rs58594334 0.00072
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met) rs28365116 0.00071
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_021098.3(CACNA1H):c.817A>T (p.Thr273Ser) rs58386301 0.00068
NM_017841.4(SDHAF2):c.319C>T (p.Arg107Cys) rs140191819 0.00067
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=) rs60537026 0.00067
NM_021098.3(CACNA1H):c.3629C>T (p.Pro1210Leu) rs61319429 0.00067
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_004168.4(SDHA):c.894A>G (p.Thr298=) rs774584410 0.00061
NM_013335.4(GMPPA):c.756-10C>T rs368738474 0.00061
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_000383.4(AIRE):c.1503+16G>A rs565087801 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_021098.3(CACNA1H):c.299+20G>T rs1291334132 0.00058
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser) rs141230910 0.00057
NM_004168.4(SDHA):c.600A>G (p.Leu200=) rs201967413 0.00056
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu) rs200832286 0.00054
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=) rs749735503 0.00049
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.5445+6C>T rs372544546 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_004168.4(SDHA):c.456+6G>T rs371735891 0.00047
NM_013335.4(GMPPA):c.858T>C (p.Asn286=) rs145760617 0.00047
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_001395413.1(POR):c.1521G>A (p.Ala507=) rs368697465 0.00046
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) rs201009269 0.00045
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn) rs188765261 0.00044
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_021098.3(CACNA1H):c.7057G>A (p.Val2353Met) rs150601404 0.00041
NM_000383.4(AIRE):c.1279-19G>A rs369136366 0.00039
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_004168.4(SDHA):c.622-8T>C rs370714378 0.00037
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00036
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr) rs200520956 0.00036
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe) rs60534546 0.00033
NM_021098.3(CACNA1H):c.3846-16G>A rs764918796 0.00033
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=) rs200153161 0.00032
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_013335.4(GMPPA):c.750C>T (p.Ser250=) rs367640773 0.00031
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val) rs755918582 0.00031
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val) rs368835582 0.00031
NM_021098.3(CACNA1H):c.3618G>A (p.Pro1206=) rs771412437 0.00030
NM_000383.4(AIRE):c.133-11C>A rs372109674 0.00029
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser) rs567904247 0.00029
NM_013335.4(GMPPA):c.40+20G>A rs373938536 0.00029
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) rs538959856 0.00029
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.643+15C>G rs59026203 0.00029
NM_021098.3(CACNA1H):c.6943G>A (p.Gly2315Ser) rs200158741 0.00029
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876 0.00028
NM_017849.4(TMEM127):c.573G>A (p.Thr191=) rs147816248 0.00028
NM_021098.3(CACNA1H):c.2003-5C>T rs369119012 0.00027
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_001395413.1(POR):c.456C>T (p.Phe152=) rs372672054 0.00026
NM_001395413.1(POR):c.508-20C>T rs200924788 0.00026
NM_001395413.1(POR):c.522G>T (p.Gly174=) rs72557913 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911 0.00026
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) rs568224207 0.00026
NM_021098.3(CACNA1H):c.2356C>T (p.Leu786=) rs201386848 0.00026
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln) rs374710554 0.00026
NM_000383.4(AIRE):c.307+13G>A rs371890744 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=) rs372975893 0.00025
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_013335.4(GMPPA):c.40+13G>A rs199872147 0.00024
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.4779G>A (p.Glu1593=) rs563695539 0.00024
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=) rs368251427 0.00024
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_003001.5(SDHC):c.78-19C>T rs144770080 0.00023
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=) rs61543423 0.00023
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=) rs1052743921 0.00023
NM_021098.3(CACNA1H):c.6252G>A (p.Ala2084=) rs767753103 0.00023
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_013335.4(GMPPA):c.921C>T (p.Ile307=) rs145170112 0.00022
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462 0.00022
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg) rs200606995 0.00022
NM_021098.3(CACNA1H):c.2349C>T (p.Ser783=) rs367722258 0.00021
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln) rs370088144 0.00021
NM_021098.3(CACNA1H):c.3846-4C>T rs370085940 0.00021
NM_021098.3(CACNA1H):c.4062C>T (p.Ser1354=) rs376236175 0.00021
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys) rs755817927 0.00021
NM_021098.3(CACNA1H):c.5244+14G>A rs370552821 0.00021
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=) rs373830807 0.00021
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) rs201651793 0.00021
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135 0.00020
NM_021098.3(CACNA1H):c.2452-7C>T rs28365121 0.00020
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_003001.5(SDHC):c.342C>T (p.His114=) rs143730978 0.00019
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_021098.3(CACNA1H):c.4860C>T (p.Asp1620=) rs201309183 0.00018
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_004168.4(SDHA):c.918C>G (p.Leu306=) rs138828792 0.00017
NM_021098.3(CACNA1H):c.4038+14C>T rs537875566 0.00017
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=) rs61700478 0.00017
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001395413.1(POR):c.1661-16G>A rs377723544 0.00016
NM_003000.3(SDHB):c.642+17T>C rs200597595 0.00016
NM_017849.4(TMEM127):c.410-17G>A rs369750335 0.00016
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=) rs59027754 0.00016
NM_021098.3(CACNA1H):c.1047G>A (p.Ser349=) rs72552034 0.00016
NM_021098.3(CACNA1H):c.1053C>T (p.Asp351=) rs200378845 0.00016
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) rs375325893 0.00016
NM_021098.3(CACNA1H):c.2790-5C>T rs369327243 0.00016
NM_021098.3(CACNA1H):c.3845+16C>G rs781551259 0.00016
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=) rs777641943 0.00016
NM_021098.3(CACNA1H):c.4650C>T (p.Phe1550=) rs377021504 0.00016
NM_021098.3(CACNA1H):c.5174-5C>T rs199536335 0.00016
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=) rs375620368 0.00016
NM_021098.3(CACNA1H):c.5547C>T (p.Phe1849=) rs747094670 0.00016
NM_021098.3(CACNA1H):c.5887+13G>T rs369077839 0.00016
NM_021098.3(CACNA1H):c.6249G>A (p.Pro2083=) rs376251979 0.00016
NM_021098.3(CACNA1H):c.6460T>A (p.Trp2154Arg) rs767461657 0.00016
NM_021098.3(CACNA1H):c.6464G>A (p.Arg2155Gln) rs377261049 0.00016
NM_000383.4(AIRE):c.594C>T (p.Asp198=) rs376083924 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_001395413.1(POR):c.1776C>T (p.Asn592=) rs782559723 0.00015
NM_001395413.1(POR):c.822-18T>G rs377191310 0.00015
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=) rs374317639 0.00015
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=) rs537043174 0.00015
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.690C>T (p.Leu230=) rs376748975 0.00015
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=) rs370836939 0.00015
NM_000383.4(AIRE):c.1095+11G>A rs541854967 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1567-17G>A rs376402964 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_002382.5(MAX):c.36+11G>C rs377066570 0.00014
NM_004168.4(SDHA):c.1064+10A>G rs773168516 0.00014
NM_004168.4(SDHA):c.1552-15T>C rs543628983 0.00014
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913 0.00014
NM_017841.4(SDHAF2):c.15A>G (p.Thr5=) rs144511254 0.00014
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) rs369894677 0.00014
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075 0.00014
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His) rs370838298 0.00014
NM_021098.3(CACNA1H):c.3969+12A>G rs200138472 0.00014
NM_021098.3(CACNA1H):c.4777+6G>A rs374875369 0.00014
NM_021098.3(CACNA1H):c.5912C>T (p.Pro1971Leu) rs574952387 0.00014
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=) rs369051137 0.00014
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00013
NM_001395413.1(POR):c.335C>T (p.Ala112Val) rs199634961 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu) rs780502055 0.00013
NM_021098.3(CACNA1H):c.3042C>T (p.Leu1014=) rs372665410 0.00013
NM_021098.3(CACNA1H):c.3363+12C>G rs749123905 0.00013
NM_021098.3(CACNA1H):c.4536C>T (p.Asp1512=) rs370484391 0.00013
NM_021098.3(CACNA1H):c.6144G>A (p.Pro2048=) rs759924315 0.00013
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile) rs367607849 0.00013
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625 0.00013
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=) rs782093609 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_004168.4(SDHA):c.1770C>T (p.Gly590=) rs142457602 0.00012
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His) rs545918011 0.00012
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) rs773501953 0.00012
NM_021098.3(CACNA1H):c.3330C>T (p.Ser1110=) rs761381340 0.00012
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=) rs940068732 0.00012
NM_021098.3(CACNA1H):c.3778C>G (p.Pro1260Ala) rs765647810 0.00012
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val) rs72552053 0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.1236G>A (p.Ser412=) rs373985995 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.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_001395413.1(POR):c.1671G>C (p.Val557=) rs782786537 0.00011
NM_001395413.1(POR):c.1755C>T (p.Asp585=) rs72557949 0.00011
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299 0.00011
NM_004168.4(SDHA):c.621+16T>C rs769390635 0.00011
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) rs375894182 0.00011
NM_021098.3(CACNA1H):c.1722C>T (p.Ser574=) rs763201457 0.00011
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=) rs766161313 0.00011
NM_021098.3(CACNA1H):c.2003-4G>A rs778702970 0.00011
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=) rs536342720 0.00011
NM_021098.3(CACNA1H):c.2307G>A (p.Pro769=) rs61072201 0.00011
NM_021098.3(CACNA1H):c.3744+8C>T rs373354560 0.00011
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val) rs770398676 0.00011
NM_021098.3(CACNA1H):c.4677C>T (p.His1559=) rs370998291 0.00011
NM_021098.3(CACNA1H):c.5621C>T (p.Ala1874Val) rs374807892 0.00011
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_021098.3(CACNA1H):c.6871G>A (p.Glu2291Lys) rs376919826 0.00011
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=) rs748968251 0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_013335.4(GMPPA):c.345T>C (p.Ala115=) rs761791232 0.00010
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=) rs370035989 0.00010
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=) rs755382298 0.00010
NM_021098.3(CACNA1H):c.3988G>A (p.Val1330Ile) rs28365125 0.00010
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr) rs202090928 0.00010
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=) rs371310397 0.00010
NM_021098.3(CACNA1H):c.5244+10G>T rs377293771 0.00010
NM_021098.3(CACNA1H):c.5445+10G>A rs376851953 0.00010
NM_021098.3(CACNA1H):c.6639C>T (p.Ser2213=) rs768323761 0.00010
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met) rs192525493 0.00009
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057 0.00009
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761 0.00009
NM_000383.4(AIRE):c.132+18C>T rs535317267 0.00009
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001395413.1(POR):c.468G>A (p.Leu156=) rs782013669 0.00009
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107 0.00009
NM_003000.3(SDHB):c.423C>T (p.Pro141=) rs150542357 0.00009
NM_003000.3(SDHB):c.543C>T (p.Asp181=) rs199809975 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_017849.4(TMEM127):c.522C>T (p.Ala174=) rs367951215 0.00009
NM_021098.3(CACNA1H):c.1674G>A (p.Ser558=) rs777311819 0.00009
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln) rs748210497 0.00009
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=) rs539497900 0.00009
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=) rs59906488 0.00009
NM_021098.3(CACNA1H):c.2203C>T (p.Arg735Trp) rs191938566 0.00009
NM_021098.3(CACNA1H):c.2244G>A (p.Ala748=) rs372743868 0.00009
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=) rs375091126 0.00009
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=) rs958144782 0.00009
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=) rs72552043 0.00009
NM_021098.3(CACNA1H):c.4445G>A (p.Arg1482Gln) rs372132309 0.00009
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=) rs372465474 0.00009
NM_021098.3(CACNA1H):c.4760-8C>T rs375086726 0.00009
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=) rs377611664 0.00009
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=) rs368713417 0.00009
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp) rs199664795 0.00009
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=) rs139343560 0.00008
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000383.4(AIRE):c.653-16C>T rs368374287 0.00008
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_001395413.1(POR):c.1974G>A (p.Ala658=) rs367807239 0.00008
NM_003001.5(SDHC):c.405+13G>A rs369274171 0.00008
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.552G>A (p.Gly184=) rs147444427 0.00008
NM_017841.4(SDHAF2):c.330C>T (p.Asn110=) rs779335034 0.00008
NM_021098.3(CACNA1H):c.105G>A (p.Ala35=) rs1288966510 0.00008
NM_021098.3(CACNA1H):c.1275G>A (p.Thr425=) rs773277660 0.00008
NM_021098.3(CACNA1H):c.2452-13C>T rs774710747 0.00008
NM_021098.3(CACNA1H):c.2452-15C>T rs769067067 0.00008
NM_021098.3(CACNA1H):c.3163A>G (p.Met1055Val) rs563037729 0.00008
NM_021098.3(CACNA1H):c.3970-19C>A rs374297068 0.00008
NM_021098.3(CACNA1H):c.3990C>G (p.Val1330=) rs199736210 0.00008
NM_021098.3(CACNA1H):c.4164C>T (p.Gly1388=) rs371007087 0.00008
NM_021098.3(CACNA1H):c.4567-15G>A rs764345325 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=) rs144424401 0.00008
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp) rs762635374 0.00008
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=) rs755043976 0.00008
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) rs372726042 0.00008
NM_000033.4(ABCD1):c.483G>T (p.Ser161=) rs369052808 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.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.652+7G>A rs373277723 0.00007
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) rs778728934 0.00007
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=) rs367581776 0.00007
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys) rs754378887 0.00007
NM_003000.3(SDHB):c.225T>C (p.Ala75=) rs201762207 0.00007
NM_004168.4(SDHA):c.1065-4C>A rs575007678 0.00007
NM_017849.4(TMEM127):c.324C>T (p.Leu108=) rs148381232 0.00007
NM_021098.3(CACNA1H):c.1224C>T (p.Phe408=) rs376394318 0.00007
NM_021098.3(CACNA1H):c.1266C>T (p.Phe422=) rs779220684 0.00007
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=) rs147877708 0.00007
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala) rs201449513 0.00007
NM_021098.3(CACNA1H):c.2294A>G (p.Gln765Arg) rs372489040 0.00007
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=) rs1043511168 0.00007
NM_021098.3(CACNA1H):c.2907+8C>G rs374392186 0.00007
NM_021098.3(CACNA1H):c.2937C>G (p.Val979=) rs770074317 0.00007
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) rs374946880 0.00007
NM_021098.3(CACNA1H):c.3155-11C>G rs371691311 0.00007
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 0.00007
NM_021098.3(CACNA1H):c.4394G>A (p.Arg1465Lys) rs562634730 0.00007
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=) rs372640825 0.00007
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.5904G>T (p.Val1968=) rs899692720 0.00007
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=) rs774253114 0.00007
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) rs781806403 0.00006
NM_000033.4(ABCD1):c.1865+12G>A rs373638861 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.1527C>T (p.Pro509=) rs746856788 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.756G>A (p.Pro252=) rs765738882 0.00006
NM_000383.4(AIRE):c.819G>C (p.Leu273=) rs756188438 0.00006
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly) rs763160290 0.00006
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) rs373669288 0.00006
NM_001370259.2(MEN1):c.825-11T>C rs375364751 0.00006
NM_001395413.1(POR):c.1305G>A (p.Pro435=) rs199937789 0.00006
NM_001395413.1(POR):c.1389+9C>T rs781864218 0.00006
NM_001395413.1(POR):c.1950C>T (p.Leu650=) rs41301442 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.45G>A (p.Ala15=) rs782378313 0.00006
NM_001395413.1(POR):c.504C>T (p.Phe168=) rs372715546 0.00006
NM_002382.5(MAX):c.171+4A>G rs376941115 0.00006
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534 0.00006
NM_004168.4(SDHA):c.1064+4C>T rs768276870 0.00006
NM_004168.4(SDHA):c.1064+5G>A rs200021115 0.00006
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116 0.00006
NM_017841.4(SDHAF2):c.37-18G>A rs374796679 0.00006
NM_021098.3(CACNA1H):c.1213-8C>T rs745805314 0.00006
NM_021098.3(CACNA1H):c.1476C>T (p.Pro492=) rs757110424 0.00006
NM_021098.3(CACNA1H):c.1617C>T (p.Pro539=) rs914641626 0.00006
NM_021098.3(CACNA1H):c.1755G>A (p.Pro585=) rs375390442 0.00006
NM_021098.3(CACNA1H):c.2296A>T (p.Arg766Trp) rs573493037 0.00006
NM_021098.3(CACNA1H):c.2789+7G>A rs376597423 0.00006
NM_021098.3(CACNA1H):c.2789+8C>A rs367549572 0.00006
NM_021098.3(CACNA1H):c.2877C>T (p.Ser959=) rs200038089 0.00006
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=) rs56990251 0.00006
NM_021098.3(CACNA1H):c.2908-19G>T rs764138322 0.00006
NM_021098.3(CACNA1H):c.2961C>T (p.Thr987=) rs535742093 0.00006
NM_021098.3(CACNA1H):c.3147G>C (p.Gln1049His) rs61642542 0.00006
NM_021098.3(CACNA1H):c.3155-5C>T rs143582273 0.00006
NM_021098.3(CACNA1H):c.3471C>T (p.Arg1157=) rs777626104 0.00006
NM_021098.3(CACNA1H):c.3582G>A (p.Arg1194=) rs765311471 0.00006
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=) rs369508525 0.00006
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) rs200400235 0.00006
NM_021098.3(CACNA1H):c.4350+16G>A rs372361783 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.4777+17G>A rs372843972 0.00006
NM_021098.3(CACNA1H):c.4930-17C>T rs368265069 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.5039+16C>T rs58019636 0.00006
NM_021098.3(CACNA1H):c.5173+11G>A rs369914581 0.00006
NM_021098.3(CACNA1H):c.5174-20C>T rs749624753 0.00006
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=) rs534503991 0.00006
NM_021098.3(CACNA1H):c.5433C>T (p.Asn1811=) rs61467431 0.00006
NM_021098.3(CACNA1H):c.5499G>A (p.Pro1833=) rs752720980 0.00006
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) rs58819745 0.00006
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr) rs375010790 0.00006
NM_021098.3(CACNA1H):c.5622G>A (p.Ala1874=) rs765687202 0.00006
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=) rs765457704 0.00006
NM_021098.3(CACNA1H):c.6049-10G>A rs199547941 0.00006
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser) rs746537400 0.00006
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met) rs755669926 0.00006
NM_021098.3(CACNA1H):c.643+16C>T rs200284275 0.00006
NM_021098.3(CACNA1H):c.6444C>T (p.Gly2148=) rs769867201 0.00006
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=) rs375725132 0.00006
NM_021098.3(CACNA1H):c.803+17C>T rs375740846 0.00006
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326 0.00005
NM_000033.4(ABCD1):c.1635-6C>T rs782661128 0.00005
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275 0.00005
NM_000383.4(AIRE):c.1107G>T (p.Gly369=) rs767432975 0.00005
NM_000383.4(AIRE):c.1422C>T (p.Ser474=) rs760924817 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.464-14G>T rs569160989 0.00005
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) rs760183888 0.00005
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 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_002382.5(MAX):c.6C>T (p.Ser2=) rs138539686 0.00005
NM_003000.3(SDHB):c.200+7A>G rs371329778 0.00005
NM_003000.3(SDHB):c.606C>T (p.Asn202=) rs199653121 0.00005
NM_003001.5(SDHC):c.450G>A (p.Gln150=) rs749159544 0.00005
NM_004168.4(SDHA):c.1176C>T (p.Gly392=) rs1041950 0.00005
NM_004168.4(SDHA):c.1299C>T (p.Pro433=) rs144473374 0.00005
NM_004168.4(SDHA):c.1653G>A (p.Thr551=) rs761927291 0.00005
NM_004168.4(SDHA):c.408G>A (p.Gln136=) rs190477316 0.00005
NM_004168.4(SDHA):c.51G>A (p.Ala17=) rs764698195 0.00005
NM_013335.4(GMPPA):c.138+9_138+10del rs757832477 0.00005
NM_017841.4(SDHAF2):c.24G>A (p.Ser8=) rs764251580 0.00005
NM_017841.4(SDHAF2):c.294A>G (p.Thr98=) rs762441285 0.00005
NM_017841.4(SDHAF2):c.370+8G>C rs764742919 0.00005
NM_017841.4(SDHAF2):c.465C>T (p.Ala155=) rs758154733 0.00005
NM_017849.4(TMEM127):c.348T>C (p.Phe116=) rs926978443 0.00005
NM_021098.3(CACNA1H):c.1200C>T (p.Ile400=) rs762744363 0.00005
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=) rs370061462 0.00005
NM_021098.3(CACNA1H):c.132C>T (p.Ser44=) rs1035051143 0.00005
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) rs960225573 0.00005
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu) rs768197900 0.00005
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu) rs761877111 0.00005
NM_021098.3(CACNA1H):c.2452-18C>T rs924601477 0.00005
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=) rs746896203 0.00005
NM_021098.3(CACNA1H):c.2811C>T (p.Phe937=) rs372701359 0.00005
NM_021098.3(CACNA1H):c.3155-4G>A rs543267343 0.00005
NM_021098.3(CACNA1H):c.3525C>T (p.Thr1175=) rs758067750 0.00005
NM_021098.3(CACNA1H):c.3858C>T (p.Ser1286=) rs759645572 0.00005
NM_021098.3(CACNA1H):c.4039-17C>T rs775820161 0.00005
NM_021098.3(CACNA1H):c.4223+14C>T rs538104013 0.00005
NM_021098.3(CACNA1H):c.4778-4G>A rs779949902 0.00005
NM_021098.3(CACNA1H):c.5479C>T (p.His1827Tyr) rs77104261 0.00005
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=) rs754501360 0.00005
NM_021098.3(CACNA1H):c.5811G>A (p.Val1937=) rs371745750 0.00005
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu) rs746967306 0.00005
NM_021098.3(CACNA1H):c.5888-16T>A rs965860206 0.00005
NM_021098.3(CACNA1H):c.6426C>T (p.Gly2142=) rs558837787 0.00005
NM_021098.3(CACNA1H):c.6504G>A (p.Ala2168=) rs751933126 0.00005
NM_021098.3(CACNA1H):c.6594G>A (p.Ala2198=) rs368694810 0.00005
NM_021098.3(CACNA1H):c.6729C>A (p.Asp2243Glu) rs534649086 0.00005
NM_021098.3(CACNA1H):c.699C>T (p.Val233=) rs200398792 0.00005
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly) rs200939989 0.00005
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=) rs782004836 0.00004
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988 0.00004
NM_000033.4(ABCD1):c.1533C>T (p.Cys511=) rs782370364 0.00004
NM_000033.4(ABCD1):c.1865+11C>T rs781956636 0.00004
NM_000033.4(ABCD1):c.1991+7G>A rs782472075 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.507C>T (p.His169=) rs782525046 0.00004
NM_000033.4(ABCD1):c.900+10G>C rs1177363482 0.00004
NM_000383.4(AIRE):c.1279-8T>G rs374358283 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1458G>A (p.Gly486=) rs774298250 0.00004
NM_000383.4(AIRE):c.1503+10G>A rs1319625944 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=) rs771827808 0.00004
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=) rs878855190 0.00004
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=) rs764509990 0.00004
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=) rs749265222 0.00004
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly) rs914488914 0.00004
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=) rs148825200 0.00004
NM_001370259.2(MEN1):c.375A>T (p.Ile125=) rs184896922 0.00004
NM_001370259.2(MEN1):c.531G>A (p.Leu177=) rs146568011 0.00004
NM_001370259.2(MEN1):c.642T>C (p.Gly214=) rs931878410 0.00004
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) rs763326062 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_001395413.1(POR):c.1020C>T (p.Ala340=) rs72557942 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 0.00004
NM_001395413.1(POR):c.588C>T (p.Gly196=) rs1489904713 0.00004
NM_001395413.1(POR):c.633-8C>T rs782533498 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_002382.5(MAX):c.171+20T>C rs374325957 0.00004
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630 0.00004
NM_003000.3(SDHB):c.552C>T (p.Tyr184=) rs202098600 0.00004
NM_003001.5(SDHC):c.198G>A (p.Ala66=) rs763628960 0.00004
NM_003001.5(SDHC):c.20+8C>T rs773661299 0.00004
NM_003001.5(SDHC):c.242-15T>C rs961762320 0.00004
NM_003001.5(SDHC):c.282G>A (p.Gly94=) rs536197277 0.00004
NM_003001.5(SDHC):c.444A>C (p.Leu148=) rs377230417 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1260+17C>G rs750384205 0.00004
NM_004168.4(SDHA):c.1311C>T (p.Ala437=) rs377506772 0.00004
NM_004168.4(SDHA):c.1428G>A (p.Arg476=) rs377415114 0.00004
NM_004168.4(SDHA):c.1432+7G>C rs760526397 0.00004
NM_004168.4(SDHA):c.1572C>T (p.Ala524=) rs185679709 0.00004
NM_004168.4(SDHA):c.1929C>T (p.Pro643=) rs761201589 0.00004
NM_004168.4(SDHA):c.300T>C (p.Thr100=) rs771662494 0.00004
NM_004168.4(SDHA):c.313-7T>C rs201972549 0.00004
NM_004168.4(SDHA):c.372C>T (p.Tyr124=) rs754393360 0.00004
NM_004168.4(SDHA):c.444C>T (p.Ala148=) rs367618662 0.00004
NM_004168.4(SDHA):c.456+9C>T rs200565489 0.00004
NM_004168.4(SDHA):c.457-4A>G rs770052391 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004168.4(SDHA):c.705C>T (p.Ile235=) rs549892491 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004168.4(SDHA):c.957T>C (p.Ile319=) rs757167466 0.00004
NM_013335.4(GMPPA):c.516C>T (p.Ser172=) rs765824301 0.00004
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) rs535627239 0.00004
NM_017841.4(SDHAF2):c.371-12C>G rs771792041 0.00004
NM_017849.4(TMEM127):c.213G>A (p.Val71=) rs777169152 0.00004
NM_017849.4(TMEM127):c.270G>T (p.Val90=) rs748896126 0.00004
NM_017849.4(TMEM127):c.393C>T (p.Phe131=) rs756680897 0.00004
NM_017849.4(TMEM127):c.519C>T (p.Phe173=) rs758676810 0.00004
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=) rs751812661 0.00004
NM_021098.3(CACNA1H):c.1046C>T (p.Ser349Leu) rs756026742 0.00004
NM_021098.3(CACNA1H):c.1301G>A (p.Arg434Gln) rs373469167 0.00004
NM_021098.3(CACNA1H):c.1329C>T (p.Asn443=) rs368405304 0.00004
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys) rs1040565692 0.00004
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=) rs753841406 0.00004
NM_021098.3(CACNA1H):c.1671C>G (p.Pro557=) rs747661532 0.00004
NM_021098.3(CACNA1H):c.1812G>A (p.Leu604=) rs751089816 0.00004
NM_021098.3(CACNA1H):c.1920G>A (p.Pro640=) rs370824503 0.00004
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp) rs267606697 0.00004
NM_021098.3(CACNA1H):c.2363G>A (p.Arg788His) rs532296550 0.00004
NM_021098.3(CACNA1H):c.2421G>A (p.Thr807=) rs761461229 0.00004
NM_021098.3(CACNA1H):c.2433C>T (p.Gly811=) rs369215879 0.00004
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=) rs372206587 0.00004
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=) rs745368829 0.00004
NM_021098.3(CACNA1H):c.2789+20C>T rs769544181 0.00004
NM_021098.3(CACNA1H):c.2826C>T (p.Ser942=) rs759936559 0.00004
NM_021098.3(CACNA1H):c.2850C>T (p.Thr950=) rs201667568 0.00004
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=) rs769118582 0.00004
NM_021098.3(CACNA1H):c.300-6C>T rs755354027 0.00004
NM_021098.3(CACNA1H):c.3228C>T (p.Leu1076=) rs113925563 0.00004
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg) rs759262489 0.00004
NM_021098.3(CACNA1H):c.3605G>A (p.Arg1202Gln) rs745360721 0.00004
NM_021098.3(CACNA1H):c.3621C>T (p.Ala1207=) rs1325273276 0.00004
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=) rs767435491 0.00004
NM_021098.3(CACNA1H):c.3688C>T (p.Leu1230=) rs372152910 0.00004
NM_021098.3(CACNA1H):c.3707G>A (p.Arg1236His) rs772473191 0.00004
NM_021098.3(CACNA1H):c.3721G>A (p.Glu1241Lys) rs201993286 0.00004
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn) rs372126787 0.00004
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu) rs769539864 0.00004
NM_021098.3(CACNA1H):c.4017C>T (p.Phe1339=) rs766859067 0.00004
NM_021098.3(CACNA1H):c.412-9C>T rs1596382402 0.00004
NM_021098.3(CACNA1H):c.4192C>T (p.Leu1398=) rs1391605092 0.00004
NM_021098.3(CACNA1H):c.4224-7C>T rs768524941 0.00004
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=) rs373587418 0.00004
NM_021098.3(CACNA1H):c.4387G>A (p.Asp1463Asn) rs542245543 0.00004
NM_021098.3(CACNA1H):c.4557C>T (p.Val1519=) rs761169638 0.00004
NM_021098.3(CACNA1H):c.4644C>T (p.Asn1548=) rs146103792 0.00004
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met) rs369045626 0.00004
NM_021098.3(CACNA1H):c.4759+19C>T rs757614403 0.00004
NM_021098.3(CACNA1H):c.4778-13G>A rs757429018 0.00004
NM_021098.3(CACNA1H):c.5064C>T (p.Ile1688=) rs368182320 0.00004
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr) rs61372944 0.00004
NM_021098.3(CACNA1H):c.5382C>T (p.Phe1794=) rs567978624 0.00004
NM_021098.3(CACNA1H):c.5445+9C>T rs750165729 0.00004
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=) rs761380706 0.00004
NM_021098.3(CACNA1H):c.5742G>C (p.Leu1914=) rs964108081 0.00004
NM_021098.3(CACNA1H):c.6049-11C>T rs764862065 0.00004
NM_021098.3(CACNA1H):c.6219C>T (p.Thr2073=) rs757443856 0.00004
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=) rs369048631 0.00004
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met) rs772154386 0.00004
NM_021098.3(CACNA1H):c.6396G>A (p.Leu2132=) rs759614653 0.00004
NM_021098.3(CACNA1H):c.6468C>T (p.Pro2156=) rs557192491 0.00004
NM_021098.3(CACNA1H):c.6600C>T (p.Asp2200=) rs769489660 0.00004
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=) rs1362184958 0.00004
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=) rs368014968 0.00004
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=) rs398124369 0.00004
NM_021098.3(CACNA1H):c.6786C>T (p.Thr2262=) rs568142514 0.00004
NM_021098.3(CACNA1H):c.6942C>T (p.Val2314=) rs574397087 0.00004
NM_021098.3(CACNA1H):c.6955_6957del (p.Glu2319del) rs755117171 0.00004
NM_021098.3(CACNA1H):c.696C>T (p.Asn232=) rs750648723 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_021098.3(CACNA1H):c.873C>T (p.Cys291=) rs746367219 0.00004
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297 0.00003
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=) rs1557054743 0.00003
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=) rs782581290 0.00003
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=) rs144996101 0.00003
NM_000033.4(ABCD1):c.2169C>T (p.Ala723=) rs1557055461 0.00003
NM_000033.4(ABCD1):c.294G>T (p.Ser98=) rs781954264 0.00003
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly) rs1224689084 0.00003
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000383.4(AIRE):c.132+16G>A rs1272044102 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.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.30T>C (p.Leu10=) rs1024577400 0.00003
NM_000383.4(AIRE):c.464-6A>G rs773945988 0.00003
NM_000383.4(AIRE):c.57G>A (p.Ala19=) rs761739665 0.00003
NM_000383.4(AIRE):c.799-18C>T rs752494949 0.00003
NM_000383.4(AIRE):c.799-4G>A rs1359244532 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=) rs371964966 0.00003
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=) rs776834299 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=) rs546721780 0.00003
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=) rs1114167530 0.00003
NM_001370259.2(MEN1):c.315C>G (p.Leu105=) rs1238374960 0.00003
NM_001370259.2(MEN1):c.471G>A (p.Val157=) rs878855194 0.00003
NM_001370259.2(MEN1):c.474C>T (p.Ala158=) rs772526802 0.00003
NM_001370259.2(MEN1):c.525C>T (p.Leu175=) rs200155578 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr) rs770368608 0.00003
NM_001370259.2(MEN1):c.760C>T (p.Leu254=) rs1194394888 0.00003
NM_001370259.2(MEN1):c.808C>T (p.Leu270=) rs371556177 0.00003
NM_001370259.2(MEN1):c.912+10T>C rs1565645317 0.00003
NM_001395413.1(POR):c.1057+20C>T rs782720450 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1390-14G>A rs782583370 0.00003
NM_001395413.1(POR):c.1662C>T (p.Gly554=) rs541657992 0.00003
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp) rs72557950 0.00003
NM_001395413.1(POR):c.229-10C>A rs542774696 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001395413.1(POR):c.723-13C>T rs372119575 0.00003
NM_002382.5(MAX):c.102A>G (p.Lys34=) rs1060503836 0.00003
NM_002382.5(MAX):c.295+8C>G rs754409025 0.00003
NM_003000.3(SDHB):c.200+4A>C rs774908929 0.00003
NM_003000.3(SDHB):c.828G>A (p.Lys276=) rs1260768784 0.00003
NM_003001.5(SDHC):c.241+7A>G rs878854586 0.00003
NM_003001.5(SDHC):c.99G>A (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.99G>T (p.Thr33=) rs145535502 0.00003
NM_003002.4(SDHD):c.170-19A>G rs1296685617 0.00003
NM_003002.4(SDHD):c.282C>T (p.Ser94=) rs781182616 0.00003
NM_003002.4(SDHD):c.315-14T>C rs1406470864 0.00003
NM_003002.4(SDHD):c.52+13C>G rs954474648 0.00003
NM_004168.4(SDHA):c.1215C>T (p.Thr405=) rs762888704 0.00003
NM_004168.4(SDHA):c.1233C>T (p.Gly411=) rs376530094 0.00003
NM_004168.4(SDHA):c.1260+20C>T rs779828602 0.00003
NM_004168.4(SDHA):c.1272C>T (p.His424=) rs754805626 0.00003
NM_004168.4(SDHA):c.1335G>A (p.Ser445=) rs200223188 0.00003
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=) rs747249998 0.00003
NM_004168.4(SDHA):c.1664-20G>A rs1310666225 0.00003
NM_004168.4(SDHA):c.1773G>A (p.Ala591=) rs555028212 0.00003
NM_004168.4(SDHA):c.1782G>A (p.Arg594=) rs751329013 0.00003
NM_004168.4(SDHA):c.1794+3G>C rs375883981 0.00003
NM_004168.4(SDHA):c.18C>T (p.Gly6=) rs775847689 0.00003
NM_004168.4(SDHA):c.1974G>T (p.Pro658=) rs1042446 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.770+9C>G rs538621686 0.00003
NM_004168.4(SDHA):c.771-4C>T rs1360537551 0.00003
NM_004168.4(SDHA):c.801G>A (p.Thr267=) rs543630901 0.00003
NM_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003
NM_017841.4(SDHAF2):c.315T>C (p.Tyr105=) rs750979204 0.00003
NM_017841.4(SDHAF2):c.370+17G>A rs1195374084 0.00003
NM_017841.4(SDHAF2):c.6G>A (p.Ala2=) rs747571875 0.00003
NM_017841.4(SDHAF2):c.99C>T (p.Arg33=) rs753325226 0.00003
NM_017849.4(TMEM127):c.117G>A (p.Leu39=) rs747797478 0.00003
NM_017849.4(TMEM127):c.39C>T (p.Arg13=) rs1060503975 0.00003
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=) rs201935270 0.00003
NM_021098.3(CACNA1H):c.1129C>T (p.Leu377=) rs529122240 0.00003
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=) rs764371721 0.00003
NM_021098.3(CACNA1H):c.1213-20C>A rs543889283 0.00003
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.1413C>G (p.Val471=) rs781240456 0.00003
NM_021098.3(CACNA1H):c.1437C>T (p.Tyr479=) rs144326377 0.00003
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=) rs770284927 0.00003
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) rs771171443 0.00003
NM_021098.3(CACNA1H):c.1983G>A (p.Pro661=) rs56875953 0.00003
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=) rs764559629 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2452-6C>T rs766620515 0.00003
NM_021098.3(CACNA1H):c.2452-8G>T rs372868138 0.00003
NM_021098.3(CACNA1H):c.2490C>T (p.Ile830=) rs766316929 0.00003
NM_021098.3(CACNA1H):c.2604-4G>A rs543668710 0.00003
NM_021098.3(CACNA1H):c.2789+10A>G rs535085854 0.00003
NM_021098.3(CACNA1H):c.2790-6C>T rs768747822 0.00003
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=) rs775833368 0.00003
NM_021098.3(CACNA1H):c.2898C>T (p.Thr966=) rs767436883 0.00003
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=) rs376470846 0.00003
NM_021098.3(CACNA1H):c.2940G>A (p.Leu980=) rs775122425 0.00003
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val) rs774136809 0.00003
NM_021098.3(CACNA1H):c.3087G>A (p.Thr1029=) rs544225254 0.00003
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg) rs748550409 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3364-13C>T rs780323364 0.00003
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326 0.00003
NM_021098.3(CACNA1H):c.3496C>T (p.Leu1166=) rs566028361 0.00003
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) rs778684497 0.00003
NM_021098.3(CACNA1H):c.366C>G (p.Pro122=) rs372041705 0.00003
NM_021098.3(CACNA1H):c.3696C>T (p.Ile1232=) rs749776546 0.00003
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu) rs571145188 0.00003
NM_021098.3(CACNA1H):c.3744+11G>A rs765196762 0.00003
NM_021098.3(CACNA1H):c.3845+14G>C rs995847684 0.00003
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys) rs753494538 0.00003
NM_021098.3(CACNA1H):c.4059G>C (p.Leu1353=) rs749134982 0.00003
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=) rs771718484 0.00003
NM_021098.3(CACNA1H):c.4140C>T (p.Val1380=) rs746638320 0.00003
NM_021098.3(CACNA1H):c.4201C>T (p.Leu1401=) rs1357359996 0.00003
NM_021098.3(CACNA1H):c.4266G>A (p.Thr1422=) rs369851210 0.00003
NM_021098.3(CACNA1H):c.4320C>T (p.Phe1440=) rs748410941 0.00003
NM_021098.3(CACNA1H):c.4351-6C>T rs377612703 0.00003
NM_021098.3(CACNA1H):c.4476+19C>T rs780330955 0.00003
NM_021098.3(CACNA1H):c.4480C>T (p.Leu1494=) rs575012566 0.00003
NM_021098.3(CACNA1H):c.4857C>T (p.Leu1619=) rs774967938 0.00003
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=) rs951676471 0.00003
NM_021098.3(CACNA1H):c.4929+20G>A rs183848017 0.00003
NM_021098.3(CACNA1H):c.5039+18G>A rs531198181 0.00003
NM_021098.3(CACNA1H):c.5116G>A (p.Ala1706Thr) rs761499667 0.00003
NM_021098.3(CACNA1H):c.5175G>A (p.Val1725=) rs1313601373 0.00003
NM_021098.3(CACNA1H):c.5245-7T>C rs747958965 0.00003
NM_021098.3(CACNA1H):c.5254C>T (p.Leu1752=) rs759289408 0.00003
NM_021098.3(CACNA1H):c.5364C>T (p.His1788=) rs769283823 0.00003
NM_021098.3(CACNA1H):c.5394C>T (p.Phe1798=) rs368056421 0.00003
NM_021098.3(CACNA1H):c.5446-5C>T rs780634581 0.00003
NM_021098.3(CACNA1H):c.546-8G>A rs530140454 0.00003
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu) rs774551478 0.00003
NM_021098.3(CACNA1H):c.5634C>T (p.Ala1878=) rs373353512 0.00003
NM_021098.3(CACNA1H):c.5718G>A (p.Pro1906=) rs768615232 0.00003
NM_021098.3(CACNA1H):c.5776T>C (p.Ser1926Pro) rs750470269 0.00003
NM_021098.3(CACNA1H):c.5841G>A (p.Pro1947=) rs561421034 0.00003
NM_021098.3(CACNA1H):c.5913G>A (p.Pro1971=) rs544401405 0.00003
NM_021098.3(CACNA1H):c.5961C>T (p.Ser1987=) rs1001625167 0.00003
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=) rs4609848 0.00003
NM_021098.3(CACNA1H):c.6049-4A>T rs750777344 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.6201C>A (p.Val2067=) rs754178400 0.00003
NM_021098.3(CACNA1H):c.6260G>T (p.Gly2087Val) rs750666820 0.00003
NM_021098.3(CACNA1H):c.6318C>T (p.Ser2106=) rs766725637 0.00003
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=) rs753643337 0.00003
NM_021098.3(CACNA1H):c.643+13C>A rs372696554 0.00003
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) rs780870706 0.00003
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr) rs774116060 0.00003
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu) rs756807176 0.00003
NM_021098.3(CACNA1H):c.6909G>A (p.Leu2303=) rs767060522 0.00003
NM_021098.3(CACNA1H):c.732C>T (p.Phe244=) rs373750945 0.00003
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=) rs535504262 0.00003
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) rs779012601 0.00003
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=) rs375656638 0.00002
NM_000033.4(ABCD1):c.1413A>G (p.Glu471=) rs782035584 0.00002
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659 0.00002
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443 0.00002
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=) rs200718788 0.00002
NM_000033.4(ABCD1):c.1761C>T (p.His587=) rs1306734070 0.00002
NM_000033.4(ABCD1):c.1781-6G>A rs1427008949 0.00002
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=) rs782618093 0.00002
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=) rs367901575 0.00002
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000033.4(ABCD1):c.1992-15C>T rs782734602 0.00002
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=) rs782468372 0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925 0.00002
NM_000033.4(ABCD1):c.2181G>A (p.Ala727=) rs375376269 0.00002
NM_000033.4(ABCD1):c.321G>A (p.Leu107=) rs375790297 0.00002
NM_000033.4(ABCD1):c.36G>A (p.Gly12=) rs1411271062 0.00002
NM_000033.4(ABCD1):c.381G>A (p.Pro127=) rs782672983 0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412 0.00002
NM_000033.4(ABCD1):c.477C>T (p.Ala159=) rs782481544 0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928 0.00002
NM_000033.4(ABCD1):c.549C>T (p.Val183=) rs1169791916 0.00002
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092 0.00002
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410 0.00002
NM_000383.4(AIRE):c.1014C>G (p.Ser338=) rs746054293 0.00002
NM_000383.4(AIRE):c.1191G>T (p.Leu397=) rs572680101 0.00002
NM_000383.4(AIRE):c.1302C>T (p.Cys434=) rs370969296 0.00002
NM_000383.4(AIRE):c.1329G>A (p.Val443=) rs370017667 0.00002
NM_000383.4(AIRE):c.1401-7G>A rs888720163 0.00002
NM_000383.4(AIRE):c.1434C>T (p.Asp478=) rs575870442 0.00002
NM_000383.4(AIRE):c.1503+7G>T rs1161056630 0.00002
NM_000383.4(AIRE):c.1566+11C>A rs200735043 0.00002
NM_000383.4(AIRE):c.1623C>G (p.Ala541=) rs1332443962 0.00002
NM_000383.4(AIRE):c.18G>C (p.Ala6=) rs1228505896 0.00002
NM_000383.4(AIRE):c.276G>A (p.Arg92=) rs765892829 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.540G>A (p.Gly180=) rs777290325 0.00002
NM_000383.4(AIRE):c.653-15G>A rs371094356 0.00002
NM_000383.4(AIRE):c.753C>G (p.Gly251=) rs772650680 0.00002
NM_000383.4(AIRE):c.880-20G>C rs749193829 0.00002
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=) rs201091135 0.00002
NM_001370259.2(MEN1):c.115T>C (p.Leu39=) rs863224438 0.00002
NM_001370259.2(MEN1):c.1186-7C>T rs587780842 0.00002
NM_001370259.2(MEN1):c.1350+6G>A rs746077651 0.00002
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=) rs1180957953 0.00002
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys) rs765306552 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) rs767677287 0.00002
NM_001370259.2(MEN1):c.426C>T (p.Ser142=) rs753252650 0.00002
NM_001370259.2(MEN1):c.639C>T (p.Ala213=) rs746067825 0.00002
NM_001370259.2(MEN1):c.654+9C>T rs202134234 0.00002
NM_001370259.2(MEN1):c.696C>T (p.Arg232=) rs753411991 0.00002
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_001370259.2(MEN1):c.993C>T (p.Asn331=) rs370176253 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.1661-12C>T rs369107420 0.00002
NM_001395413.1(POR):c.1661-20C>A rs1335012473 0.00002
NM_001395413.1(POR):c.1881C>T (p.Tyr627=) rs113741710 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.711C>T (p.Gly237=) rs374115833 0.00002
NM_002382.5(MAX):c.172-12A>G rs746620560 0.00002
NM_002382.5(MAX):c.21C>A (p.Ile7=) rs760248675 0.00002
NM_002382.5(MAX):c.295+10C>T rs375446224 0.00002
NM_002382.5(MAX):c.295+6C>T rs146552320 0.00002
NM_002382.5(MAX):c.296-13G>C rs765385240 0.00002
NM_002382.5(MAX):c.296-18C>T rs908323739 0.00002
NM_002382.5(MAX):c.36+17C>T rs571881861 0.00002
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870 0.00002
NM_002382.5(MAX):c.63+8T>C rs776724315 0.00002
NM_003000.3(SDHB):c.540+15T>C rs756714182 0.00002
NM_003000.3(SDHB):c.66C>T (p.Cys22=) rs772853861 0.00002
NM_003000.3(SDHB):c.73-11A>C rs927103985 0.00002
NM_003000.3(SDHB):c.765+5G>A rs199945904 0.00002
NM_003000.3(SDHB):c.783A>G (p.Lys261=) rs1060505014 0.00002
NM_003001.5(SDHC):c.264G>A (p.Ser88=) rs1277488324 0.00002
NM_003001.5(SDHC):c.489T>C (p.Ser163=) rs559747670 0.00002
NM_003002.4(SDHD):c.18G>A (p.Arg6=) rs200895313 0.00002
NM_003002.4(SDHD):c.228C>T (p.Leu76=) rs148634289 0.00002
NM_003002.4(SDHD):c.366A>G (p.Lys122=) rs780764151 0.00002
NM_003002.4(SDHD):c.435C>T (p.His145=) rs200062830 0.00002
NM_003002.4(SDHD):c.438T>C (p.Asp146=) rs201328474 0.00002
NM_003002.4(SDHD):c.52+8G>A rs370761122 0.00002
NM_004168.4(SDHA):c.109G>A (p.Val37Ile) rs758426529 0.00002
NM_004168.4(SDHA):c.1134G>A (p.Thr378=) rs370002515 0.00002
NM_004168.4(SDHA):c.1146C>A (p.Gly382=) rs768947225 0.00002
NM_004168.4(SDHA):c.1257G>A (p.Gly419=) rs753410011 0.00002
NM_004168.4(SDHA):c.1350C>T (p.Asn450=) rs533902090 0.00002
NM_004168.4(SDHA):c.1353C>G (p.Arg451=) rs555342133 0.00002
NM_004168.4(SDHA):c.1356C>T (p.Leu452=) rs748496836 0.00002
NM_004168.4(SDHA):c.1419G>A (p.Glu473=) rs898003329 0.00002
NM_004168.4(SDHA):c.1432+12C>T rs377104463 0.00002
NM_004168.4(SDHA):c.1433-10T>C rs1214392431 0.00002
NM_004168.4(SDHA):c.150C>T (p.Ser50=) rs140264486 0.00002
NM_004168.4(SDHA):c.1551+17G>A rs376232883 0.00002
NM_004168.4(SDHA):c.1552-9G>A rs765624219 0.00002
NM_004168.4(SDHA):c.1656C>T (p.Phe552=) rs1170030451 0.00002
NM_004168.4(SDHA):c.1664-16C>G rs763374204 0.00002
NM_004168.4(SDHA):c.1671C>A (p.Val557=) rs767963713 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1737C>T (p.Ile579=) rs201454617 0.00002
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=) rs3181540 0.00002
NM_004168.4(SDHA):c.1755G>A (p.Arg585=) rs760254364 0.00002
NM_004168.4(SDHA):c.1909-5T>C rs1197849830 0.00002
NM_004168.4(SDHA):c.1950C>T (p.Asn650=) rs1042430 0.00002
NM_004168.4(SDHA):c.447C>T (p.Ala149=) rs752187837 0.00002
NM_004168.4(SDHA):c.456+17T>C rs1350429949 0.00002
NM_004168.4(SDHA):c.597G>A (p.Ser199=) rs141874250 0.00002
NM_004168.4(SDHA):c.598C>T (p.Leu200=) rs764307917 0.00002
NM_004168.4(SDHA):c.621+14C>T rs776301796 0.00002
NM_004168.4(SDHA):c.621+15G>A rs747737117 0.00002
NM_004168.4(SDHA):c.63+8C>T rs766358430 0.00002
NM_004168.4(SDHA):c.825C>T (p.Asp275=) rs1237373391 0.00002
NM_004168.4(SDHA):c.963T>C (p.Ser321=) rs755235011 0.00002
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=) rs781071244 0.00002
NM_017841.4(SDHAF2):c.156G>A (p.Leu52=) rs773466310 0.00002
NM_017841.4(SDHAF2):c.371-4G>T rs775160119 0.00002
NM_017849.4(TMEM127):c.114C>G (p.Ala38=) rs771646015 0.00002
NM_017849.4(TMEM127):c.267A>G (p.Thr89=) rs773384410 0.00002
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718 0.00002
NM_017849.4(TMEM127):c.409+19C>T rs1484437085 0.00002
NM_017849.4(TMEM127):c.409+8G>A rs749887924 0.00002
NM_017849.4(TMEM127):c.410-4C>T rs1412595514 0.00002
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_017849.4(TMEM127):c.410-7C>T rs375440877 0.00002
NM_017849.4(TMEM127):c.438T>C (p.Phe146=) rs774321958 0.00002
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721 0.00002
NM_017849.4(TMEM127):c.486G>A (p.Lys162=) rs536032990 0.00002
NM_017849.4(TMEM127):c.489G>A (p.Lys163=) rs757792507 0.00002
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=) rs1338263000 0.00002
NM_021098.3(CACNA1H):c.1158C>T (p.Tyr386=) rs369185990 0.00002
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile) rs748551891 0.00002
NM_021098.3(CACNA1H):c.1179C>T (p.Phe393=) rs939109422 0.00002
NM_021098.3(CACNA1H):c.1323G>A (p.Leu441=) rs778972217 0.00002
NM_021098.3(CACNA1H):c.1395C>G (p.Gly465=) rs758578051 0.00002
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.1515C>T (p.Arg505=) rs1421031870 0.00002
NM_021098.3(CACNA1H):c.1566T>C (p.His522=) rs1396490901 0.00002
NM_021098.3(CACNA1H):c.1582C>T (p.His528Tyr) rs990227397 0.00002
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu) rs1430474816 0.00002
NM_021098.3(CACNA1H):c.1719C>T (p.His573=) rs964041008 0.00002
NM_021098.3(CACNA1H):c.1863G>T (p.Val621=) rs942222931 0.00002
NM_021098.3(CACNA1H):c.1929C>T (p.Thr643=) rs370266192 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.2136T>C (p.Gly712=) rs996560193 0.00002
NM_021098.3(CACNA1H):c.2169T>C (p.Asp723=) rs374483400 0.00002
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val) rs1039258079 0.00002
NM_021098.3(CACNA1H):c.2331C>T (p.Arg777=) rs752099217 0.00002
NM_021098.3(CACNA1H):c.237C>G (p.Val79=) rs994984264 0.00002
NM_021098.3(CACNA1H):c.2442C>T (p.Tyr814=) rs758897141 0.00002
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=) rs1348188346 0.00002
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=) rs201227047 0.00002
NM_021098.3(CACNA1H):c.2584G>A (p.Gly862Ser) rs747426357 0.00002
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=) rs777961380 0.00002
NM_021098.3(CACNA1H):c.2907+10G>A rs781264742 0.00002
NM_021098.3(CACNA1H):c.2919G>A (p.Gln973=) rs1297223730 0.00002
NM_021098.3(CACNA1H):c.300-9C>T rs546397615 0.00002
NM_021098.3(CACNA1H):c.3003C>T (p.Phe1001=) rs761698159 0.00002
NM_021098.3(CACNA1H):c.3064-6G>A rs1489099879 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.3659A>G (p.Gln1220Arg) rs763161866 0.00002
NM_021098.3(CACNA1H):c.3732C>T (p.Asp1244=) rs755463348 0.00002
NM_021098.3(CACNA1H):c.3845+7C>T rs371494399 0.00002
NM_021098.3(CACNA1H):c.3970-10C>T rs377114648 0.00002
NM_021098.3(CACNA1H):c.4038+7C>T rs745781473 0.00002
NM_021098.3(CACNA1H):c.4039-5C>T rs750657572 0.00002
NM_021098.3(CACNA1H):c.4071C>T (p.His1357=) rs763335539 0.00002
NM_021098.3(CACNA1H):c.42C>T (p.Pro14=) rs1486745172 0.00002
NM_021098.3(CACNA1H):c.4351-13C>T rs1428846125 0.00002
NM_021098.3(CACNA1H):c.4461C>T (p.Phe1487=) rs767786667 0.00002
NM_021098.3(CACNA1H):c.4476+12G>A rs757993233 0.00002
NM_021098.3(CACNA1H):c.4477-7C>T rs984880682 0.00002
NM_021098.3(CACNA1H):c.4500G>A (p.Leu1500=) rs374098971 0.00002
NM_021098.3(CACNA1H):c.450G>T (p.Glu150Asp) rs753922811 0.00002
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) rs375199752 0.00002
NM_021098.3(CACNA1H):c.4764T>G (p.Thr1588=) rs779044290 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.4929+9G>A rs758205516 0.00002
NM_021098.3(CACNA1H):c.5112C>T (p.Ser1704=) rs748750792 0.00002
NM_021098.3(CACNA1H):c.5245-6G>A rs549929595 0.00002
NM_021098.3(CACNA1H):c.5259C>T (p.Gly1753=) rs764802620 0.00002
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=) rs763776082 0.00002
NM_021098.3(CACNA1H):c.545+9C>T rs779651648 0.00002
NM_021098.3(CACNA1H):c.5520C>T (p.Phe1840=) rs899047966 0.00002
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser) rs767275498 0.00002
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=) rs764500957 0.00002
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile) rs766939282 0.00002
NM_021098.3(CACNA1H):c.5892C>T (p.Ser1964=) rs1303447893 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.6345C>T (p.Ala2115=) rs529859576 0.00002
NM_021098.3(CACNA1H):c.6361G>A (p.Glu2121Lys) rs765011476 0.00002
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=) rs780808265 0.00002
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser) rs748564400 0.00002
NM_021098.3(CACNA1H):c.644-7C>T rs545310896 0.00002
NM_021098.3(CACNA1H):c.6555G>A (p.Lys2185=) rs528748865 0.00002
NM_021098.3(CACNA1H):c.6557A>T (p.Lys2186Met) rs370464756 0.00002
NM_021098.3(CACNA1H):c.6588C>T (p.Pro2196=) rs777569297 0.00002
NM_021098.3(CACNA1H):c.6810G>A (p.Pro2270=) rs113064034 0.00002
NM_021098.3(CACNA1H):c.6933C>T (p.Pro2311=) rs1385264146 0.00002
NM_021098.3(CACNA1H):c.823C>T (p.Leu275=) rs778739975 0.00002
NM_021098.3(CACNA1H):c.876C>T (p.Ser292=) rs376102066 0.00002
NM_021098.3(CACNA1H):c.906C>T (p.Cys302=) rs554546755 0.00002
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=) rs781828983 0.00001
NM_000033.4(ABCD1):c.1026G>A (p.Ser342=) rs1557053246 0.00001
NM_000033.4(ABCD1):c.1071C>T (p.Tyr357=) rs200988373 0.00001
NM_000033.4(ABCD1):c.1081+8C>T rs782246846 0.00001
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=) rs1205664363 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1197T>C (p.Ile399=) rs143589488 0.00001
NM_000033.4(ABCD1):c.1225-9C>T rs371682640 0.00001
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850 0.00001
NM_000033.4(ABCD1):c.1257G>A (p.Val419=) rs1603234541 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.1291C>T (p.Arg431Cys) rs782598285 0.00001
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=) rs200522486 0.00001
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=) rs782339121 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1393+9G>A rs1569541019 0.00001
NM_000033.4(ABCD1):c.1394-5T>C rs782336998 0.00001
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629 0.00001
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=) rs1557054320 0.00001
NM_000033.4(ABCD1):c.1489-18C>T rs1557054724 0.00001
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=) rs149643908 0.00001
NM_000033.4(ABCD1):c.1617G>A (p.Met539Ile) rs927479436 0.00001
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=) rs782005164 0.00001
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=) rs1482177539 0.00001
NM_000033.4(ABCD1):c.1746C>T (p.Val582=) rs1557054863 0.00001
NM_000033.4(ABCD1):c.1749G>A (p.Val583=) rs1557054868 0.00001
NM_000033.4(ABCD1):c.1755G>A (p.Leu585=) rs2091764918 0.00001
NM_000033.4(ABCD1):c.1781-9C>T rs1447645678 0.00001
NM_000033.4(ABCD1):c.1865+8C>T rs374985703 0.00001
NM_000033.4(ABCD1):c.1866-11C>T rs782126372 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.1947C>T (p.Asp649=) rs1483248084 0.00001
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410 0.00001
NM_000033.4(ABCD1):c.1991+8C>T rs2091774199 0.00001
NM_000033.4(ABCD1):c.2022T>C (p.Asp674=) rs2091775214 0.00001
NM_000033.4(ABCD1):c.234C>T (p.Leu78=) rs940741241 0.00001
NM_000033.4(ABCD1):c.252C>T (p.Pro84=) rs1557052276 0.00001
NM_000033.4(ABCD1):c.297C>T (p.Ala99=) rs889405096 0.00001
NM_000033.4(ABCD1):c.300C>G (p.Ala100=) rs782098898 0.00001
NM_000033.4(ABCD1):c.345C>T (p.Asp115=) rs1557052311 0.00001
NM_000033.4(ABCD1):c.403C>T (p.Leu135=) rs1448083307 0.00001
NM_000033.4(ABCD1):c.483G>A (p.Ser161=) rs369052808 0.00001
NM_000033.4(ABCD1):c.528C>G (p.Ser176=) rs1557052393 0.00001
NM_000033.4(ABCD1):c.561C>T (p.Asp187=) rs781987852 0.00001
NM_000033.4(ABCD1):c.57C>G (p.Ala19=) rs1603231679 0.00001
NM_000033.4(ABCD1):c.663C>T (p.Asp221=) rs1557052447 0.00001
NM_000033.4(ABCD1):c.668C>T (p.Ala223Val) rs782230740 0.00001
NM_000033.4(ABCD1):c.66G>T (p.Leu22=) rs1557052169 0.00001
NM_000033.4(ABCD1):c.675T>C (p.Thr225=) rs1557052463 0.00001
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00001
NM_000033.4(ABCD1):c.714C>T (p.Ala238=) rs781906112 0.00001
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_000033.4(ABCD1):c.786G>A (p.Ser262=) rs1020447716 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00001
NM_000033.4(ABCD1):c.906G>A (p.Glu302=) rs782178199 0.00001
NM_000033.4(ABCD1):c.923G>A (p.Arg308His) rs781978255 0.00001
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000033.4(ABCD1):c.960C>T (p.Ile320=) rs1557053225 0.00001
NM_000383.4(AIRE):c.1023G>A (p.Leu341=) rs1352758309 0.00001
NM_000383.4(AIRE):c.1035C>T (p.Val345=) rs1480626384 0.00001
NM_000383.4(AIRE):c.1053G>A (p.Arg351=) rs760115494 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1074G>A (p.Gln358=) rs1294643656 0.00001
NM_000383.4(AIRE):c.1096-16G>A rs374995530 0.00001
NM_000383.4(AIRE):c.1098C>A (p.Leu366=) rs769360966 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1170G>A (p.Thr390=) rs935084604 0.00001
NM_000383.4(AIRE):c.1179C>T (p.Val393=) rs752897977 0.00001
NM_000383.4(AIRE):c.117C>T (p.Pro39=) rs1033297636 0.00001
NM_000383.4(AIRE):c.1182C>T (p.Tyr394=) rs1482020075 0.00001
NM_000383.4(AIRE):c.1194G>A (p.Pro398=) rs375536220 0.00001
NM_000383.4(AIRE):c.1233C>T (p.Ser411=) rs1446995144 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.1249C>T (p.Leu417=) rs1248107084 0.00001
NM_000383.4(AIRE):c.1272T>C (p.Gly424=) rs527566053 0.00001
NM_000383.4(AIRE):c.1278+10G>A rs2040561918 0.00001
NM_000383.4(AIRE):c.1279-20C>T rs1464505488 0.00001
NM_000383.4(AIRE):c.1282C>T (p.Leu428=) rs2040571465 0.00001
NM_000383.4(AIRE):c.1311C>T (p.Cys437=) rs771244760 0.00001
NM_000383.4(AIRE):c.132+17C>T rs1234416509 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1350C>T (p.Ala450=) rs747182922 0.00001
NM_000383.4(AIRE):c.138G>A (p.Thr46=) rs376741040 0.00001
NM_000383.4(AIRE):c.1392C>A (p.Ser464=) rs759575621 0.00001
NM_000383.4(AIRE):c.1400+17G>A rs772820639 0.00001
NM_000383.4(AIRE):c.1400+19C>T rs368373038 0.00001
NM_000383.4(AIRE):c.1467C>T (p.Ala489=) rs1296834483 0.00001
NM_000383.4(AIRE):c.1503+8C>T rs1390347231 0.00001
NM_000383.4(AIRE):c.1503+9C>T rs984302778 0.00001
NM_000383.4(AIRE):c.1504-4C>T rs1314268321 0.00001
NM_000383.4(AIRE):c.1567-4G>A rs372099368 0.00001
NM_000383.4(AIRE):c.1617G>A (p.Pro539=) rs769335225 0.00001
NM_000383.4(AIRE):c.183C>T (p.Ala61=) rs1471783563 0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=) rs1347611962 0.00001
NM_000383.4(AIRE):c.308-12C>T rs753353875 0.00001
NM_000383.4(AIRE):c.459C>T (p.Ser153=) rs997396625 0.00001
NM_000383.4(AIRE):c.463+16G>C rs761329134 0.00001
NM_000383.4(AIRE):c.468T>C (p.Ser156=) rs1265020470 0.00001
NM_000383.4(AIRE):c.477G>A (p.Lys159=) rs1192838059 0.00001
NM_000383.4(AIRE):c.489C>A (p.Pro163=) rs1006635868 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.624G>A (p.Gly208=) rs769510002 0.00001
NM_000383.4(AIRE):c.627C>T (p.Ile209=) rs775304437 0.00001
NM_000383.4(AIRE):c.652+8C>T rs1418632354 0.00001
NM_000383.4(AIRE):c.653-10C>G rs760848364 0.00001
NM_000383.4(AIRE):c.653-5C>T rs771182213 0.00001
NM_000383.4(AIRE):c.799-7C>T rs1287851004 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.855C>T (p.Leu285=) rs267606152 0.00001
NM_000383.4(AIRE):c.891C>T (p.Asp297=) rs527944302 0.00001
NM_000383.4(AIRE):c.900C>T (p.Ala300=) rs536338321 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.939C>T (p.Gly313=) rs2040535317 0.00001
NM_000383.4(AIRE):c.96G>T (p.Leu32=) rs987241240 0.00001
NM_000383.4(AIRE):c.993C>T (p.Pro331=) rs761394248 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=) rs1060503796 0.00001
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) rs878855184 0.00001
NM_001370259.2(MEN1):c.1038T>C (p.Thr346=) rs1414483292 0.00001
NM_001370259.2(MEN1):c.1049+11C>A rs1229329826 0.00001
NM_001370259.2(MEN1):c.1049+13C>T rs533537007 0.00001
NM_001370259.2(MEN1):c.1050-19G>C rs1322811280 0.00001
NM_001370259.2(MEN1):c.1086G>A (p.Lys362=) rs1941672084 0.00001
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) rs758404089 0.00001
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=) rs754129242 0.00001
NM_001370259.2(MEN1):c.114C>G (p.Ser38=) rs1252317486 0.00001
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.1185+19A>G rs1456615213 0.00001
NM_001370259.2(MEN1):c.1186-17C>T rs773542607 0.00001
NM_001370259.2(MEN1):c.1186-6G>A rs576193460 0.00001
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=) rs770037856 0.00001
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=) rs1289898067 0.00001
NM_001370259.2(MEN1):c.121C>T (p.Leu41=) rs1441672096 0.00001
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=) rs878855188 0.00001
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=) rs1236745071 0.00001
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=) rs376598079 0.00001
NM_001370259.2(MEN1):c.1350+12C>A rs1186166424 0.00001
NM_001370259.2(MEN1):c.1350+19G>A rs1331281610 0.00001
NM_001370259.2(MEN1):c.1351-11C>T rs1941574613 0.00001
NM_001370259.2(MEN1):c.1351-16C>G rs766052368 0.00001
NM_001370259.2(MEN1):c.135G>A (p.Glu45=) rs778670301 0.00001
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) rs754445482 0.00001
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=) rs748820252 0.00001
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) rs755734265 0.00001
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=) rs1413990417 0.00001
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu) rs766604600 0.00001
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=) rs773363654 0.00001
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=) rs1057121245 0.00001
NM_001370259.2(MEN1):c.1539A>T (p.Gly513=) rs1941530792 0.00001
NM_001370259.2(MEN1):c.1542C>T (p.Pro514=) rs1592631827 0.00001
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg) rs1427043628 0.00001
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr) rs760683615 0.00001
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=) rs767655504 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.159C>G (p.Val53=) rs1411927545 0.00001
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) rs1055457298 0.00001
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly) rs775422717 0.00001
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=) rs1349729840 0.00001
NM_001370259.2(MEN1):c.1653C>T (p.Leu551=) rs1592630324 0.00001
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=) rs143423552 0.00001
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=) rs757417271 0.00001
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=) rs1114167530 0.00001
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=) rs765105348 0.00001
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=) rs759563305 0.00001
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=) rs1157546350 0.00001
NM_001370259.2(MEN1):c.177C>G (p.Pro59=) rs749001511 0.00001
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu) rs757766498 0.00001
NM_001370259.2(MEN1):c.219C>T (p.Gly73=) rs758434243 0.00001
NM_001370259.2(MEN1):c.249G>T (p.Leu83=) rs386134252 0.00001
NM_001370259.2(MEN1):c.258C>T (p.Ile86=) rs759731868 0.00001
NM_001370259.2(MEN1):c.300C>G (p.Ala100=) rs773136972 0.00001
NM_001370259.2(MEN1):c.303C>T (p.Val101=) rs1463347315 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.336C>G (p.Val112=) rs1200092213 0.00001
NM_001370259.2(MEN1):c.345T>C (p.Arg115=) rs748948131 0.00001
NM_001370259.2(MEN1):c.349C>T (p.Leu117=) rs1941984891 0.00001
NM_001370259.2(MEN1):c.387C>G (p.Leu129=) rs1257890690 0.00001
NM_001370259.2(MEN1):c.390C>T (p.Ser130=) rs771272168 0.00001
NM_001370259.2(MEN1):c.396C>T (p.Ser132=) rs896947172 0.00001
NM_001370259.2(MEN1):c.446-11C>G rs1273035105 0.00001
NM_001370259.2(MEN1):c.465C>T (p.Ser155=) rs936786553 0.00001
NM_001370259.2(MEN1):c.48C>T (p.Ile16=) rs1060503797 0.00001
NM_001370259.2(MEN1):c.513G>C (p.Arg171=) rs560870111 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_001370259.2(MEN1):c.573G>A (p.Glu191=) rs1592651018 0.00001
NM_001370259.2(MEN1):c.609C>T (p.Asn203=) rs749844029 0.00001
NM_001370259.2(MEN1):c.621G>A (p.Arg207=) rs779966911 0.00001
NM_001370259.2(MEN1):c.654+5T>C rs757049384 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) rs778921501 0.00001
NM_001370259.2(MEN1):c.711G>A (p.Ala237=) rs144677807 0.00001
NM_001370259.2(MEN1):c.720G>T (p.Val240=) rs1555165534 0.00001
NM_001370259.2(MEN1):c.726C>T (p.Ala242=) rs1198651608 0.00001
NM_001370259.2(MEN1):c.729C>T (p.Ile243=) rs1353237754 0.00001
NM_001370259.2(MEN1):c.783+7G>A rs1060503793 0.00001
NM_001370259.2(MEN1):c.784-129T>A rs536461697 0.00001
NM_001370259.2(MEN1):c.801C>G (p.Leu267=) rs760850856 0.00001
NM_001370259.2(MEN1):c.824+12G>A rs768402169 0.00001
NM_001370259.2(MEN1):c.824+19C>G rs1941789202 0.00001
NM_001370259.2(MEN1):c.825-14T>C rs773447061 0.00001
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=) rs1060503789 0.00001
NM_001370259.2(MEN1):c.849G>A (p.Leu283=) rs1592646641 0.00001
NM_001370259.2(MEN1):c.856C>T (p.Leu286=) rs542321016 0.00001
NM_001370259.2(MEN1):c.861G>A (p.Glu287=) rs1336658836 0.00001
NM_001370259.2(MEN1):c.913-8C>T rs373893527 0.00001
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp) rs756604268 0.00001
NM_001370259.2(MEN1):c.984C>T (p.His328=) rs757323408 0.00001
NM_001370259.2(MEN1):c.990C>A (p.Arg330=) rs1359880787 0.00001
NM_001370259.2(MEN1):c.999T>C (p.Asn333=) rs763133775 0.00001
NM_001395413.1(POR):c.1029C>T (p.Asp343=) rs201568454 0.00001
NM_001395413.1(POR):c.1057+11C>T rs782029570 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1240-16C>T rs1266871005 0.00001
NM_001395413.1(POR):c.1374C>T (p.Ile458=) rs1003383217 0.00001
NM_001395413.1(POR):c.1575C>T (p.Thr525=) rs933264724 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001395413.1(POR):c.438C>T (p.Thr146=) rs782302163 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.825C>T (p.Pro275=) rs782052242 0.00001
NM_002382.5(MAX):c.153A>G (p.Pro51=) rs746728570 0.00001
NM_002382.5(MAX):c.171+19C>T rs778677580 0.00001
NM_002382.5(MAX):c.172-16T>C rs1316320305 0.00001
NM_002382.5(MAX):c.172-7G>A rs1450450380 0.00001
NM_002382.5(MAX):c.18C>T (p.Asp6=) rs2063874870 0.00001
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213 0.00001
NM_002382.5(MAX):c.282T>C (p.Leu94=) rs1413313831 0.00001
NM_002382.5(MAX):c.295+11G>A rs759033476 0.00001
NM_002382.5(MAX):c.36+12G>A rs527944097 0.00001
NM_002382.5(MAX):c.37-10C>G rs1457798349 0.00001
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588 0.00001
NM_002382.5(MAX):c.39A>G (p.Glu13=) rs780941187 0.00001
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673 0.00001
NM_002382.5(MAX):c.438T>C (p.Pro146=) rs1259526031 0.00001
NM_002382.5(MAX):c.450A>G (p.Gln150=) rs2063058995 0.00001
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320 0.00001
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308 0.00001
NM_002382.5(MAX):c.87T>C (p.Asn29=) rs771488967 0.00001
NM_003000.3(SDHB):c.123A>G (p.Lys41=) rs137877851 0.00001
NM_003000.3(SDHB):c.144C>T (p.Asp48=) rs1553178737 0.00001
NM_003000.3(SDHB):c.171T>C (p.His57=) rs1280868219 0.00001
NM_003000.3(SDHB):c.183T>C (p.Tyr61=) rs760169139 0.00001
NM_003000.3(SDHB):c.186A>G (p.Glu62=) rs876658473 0.00001
NM_003000.3(SDHB):c.201-10T>C rs761461907 0.00001
NM_003000.3(SDHB):c.217T>C (p.Leu73=) rs763734164 0.00001
NM_003000.3(SDHB):c.286+16C>T rs200305451 0.00001
NM_003000.3(SDHB):c.286+18G>A rs1352485549 0.00001
NM_003000.3(SDHB):c.287-12T>C rs747263813 0.00001
NM_003000.3(SDHB):c.287-4T>C rs200419171 0.00001
NM_003000.3(SDHB):c.287-7C>G rs542180633 0.00001
NM_003000.3(SDHB):c.312C>T (p.Asn104=) rs876660346 0.00001
NM_003000.3(SDHB):c.33C>T (p.Arg11=) rs146399542 0.00001
NM_003000.3(SDHB):c.34C>A (p.Arg12=) rs761996626 0.00001
NM_003000.3(SDHB):c.424-11C>G rs199523383 0.00001
NM_003000.3(SDHB):c.424-16T>G rs754406155 0.00001
NM_003000.3(SDHB):c.424-20C>A rs1164478186 0.00001
NM_003000.3(SDHB):c.424-4A>G rs767878021 0.00001
NM_003000.3(SDHB):c.424-6C>T rs376285522 0.00001
NM_003000.3(SDHB):c.42G>A (p.Pro14=) rs760753435 0.00001
NM_003000.3(SDHB):c.519C>T (p.Ser173=) rs768454654 0.00001
NM_003000.3(SDHB):c.51C>A (p.Thr17=) rs550555402 0.00001
NM_003000.3(SDHB):c.541-19C>G rs781716730 0.00001
NM_003000.3(SDHB):c.541-3C>T rs751920183 0.00001
NM_003000.3(SDHB):c.541-7C>T rs201558574 0.00001
NM_003000.3(SDHB):c.541-9C>T rs755367242 0.00001
NM_003000.3(SDHB):c.624G>T (p.Gly208=) rs1214592422 0.00001
NM_003000.3(SDHB):c.642+11C>T rs1321974936 0.00001
NM_003000.3(SDHB):c.642+14T>C rs1400740755 0.00001
NM_003000.3(SDHB):c.642+15A>G rs368427218 0.00001
NM_003000.3(SDHB):c.642+7T>C rs747423037 0.00001
NM_003000.3(SDHB):c.643-4C>G rs748796588 0.00001
NM_003000.3(SDHB):c.643-7T>C rs374921867 0.00001
NM_003000.3(SDHB):c.645C>G (p.Ala215=) rs1473312934 0.00001
NM_003000.3(SDHB):c.663C>T (p.Asp221=) rs1475864409 0.00001
NM_003000.3(SDHB):c.696C>T (p.Ala232=) rs779143585 0.00001
NM_003000.3(SDHB):c.700C>T (p.Leu234=) rs201728852 0.00001
NM_003000.3(SDHB):c.705G>A (p.Gln235=) rs1570944851 0.00001
NM_003000.3(SDHB):c.72+18A>G rs758905319 0.00001
NM_003000.3(SDHB):c.720A>G (p.Leu240=) rs759446340 0.00001
NM_003000.3(SDHB):c.73-6T>A rs1252798981 0.00001
NM_003000.3(SDHB):c.765+4C>T rs776039903 0.00001
NM_003000.3(SDHB):c.766-20T>C rs750144449 0.00001
NM_003000.3(SDHB):c.766-9T>G rs2077946427 0.00001
NM_003000.3(SDHB):c.84A>G (p.Gly28=) rs1337602604 0.00001
NM_003000.3(SDHB):c.87C>G (p.Ala29=) rs2078100833 0.00001
NM_003001.5(SDHC):c.20+12G>C rs1014189365 0.00001
NM_003001.5(SDHC):c.20+12_20+13insTA rs1403146281 0.00001
NM_003001.5(SDHC):c.20+20G>T rs763464678 0.00001
NM_003001.5(SDHC):c.20+3G>A rs377566366 0.00001
NM_003001.5(SDHC):c.242-17C>T rs1672283295 0.00001
NM_003001.5(SDHC):c.309G>A (p.Val103=) rs768273090 0.00001
NM_003001.5(SDHC):c.312G>A (p.Lys104=) rs1395923291 0.00001
NM_003001.5(SDHC):c.339C>T (p.Ile113=) rs1047677628 0.00001
NM_003001.5(SDHC):c.372C>T (p.Leu124=) rs766007157 0.00001
NM_003001.5(SDHC):c.405+12C>T rs575479448 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003001.5(SDHC):c.42C>T (p.Leu14=) rs1331533952 0.00001
NM_003001.5(SDHC):c.78-18G>A rs780106501 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NM_003002.4(SDHD):c.141G>A (p.Gln47=) rs1217254088 0.00001
NM_003002.4(SDHD):c.159G>A (p.Pro53=) rs201368675 0.00001
NM_003002.4(SDHD):c.170-12T>C rs764191089 0.00001
NM_003002.4(SDHD):c.170-18A>C rs1402144794 0.00001
NM_003002.4(SDHD):c.170-6T>C rs753703004 0.00001
NM_003002.4(SDHD):c.21G>A (p.Leu7=) rs974401612 0.00001
NM_003002.4(SDHD):c.231G>C (p.Leu77=) rs1187106228 0.00001
NM_003002.4(SDHD):c.243G>C (p.Pro81=) rs575262156 0.00001
NM_003002.4(SDHD):c.264C>T (p.Cys88=) rs761615413 0.00001
NM_003002.4(SDHD):c.270G>A (p.Ala90=) rs766656463 0.00001
NM_003002.4(SDHD):c.297C>T (p.Leu99=) rs749657880 0.00001
NM_003002.4(SDHD):c.314+12A>G rs201163618 0.00001
NM_003002.4(SDHD):c.315-18T>G rs1260988180 0.00001
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383 0.00001
NM_003002.4(SDHD):c.33C>T (p.Cys11=) rs104894309 0.00001
NM_003002.4(SDHD):c.342T>C (p.Tyr114=) rs1050032491 0.00001
NM_003002.4(SDHD):c.405C>A (p.Thr135=) rs1555187606 0.00001
NM_003002.4(SDHD):c.52+19C>T rs1566690388 0.00001
NM_003002.4(SDHD):c.53-10C>G rs201350484 0.00001
NM_004168.4(SDHA):c.1017T>C (p.Ser339=) rs752738784 0.00001
NM_004168.4(SDHA):c.1026G>T (p.Val342=) rs1060505004 0.00001
NM_004168.4(SDHA):c.1065-16T>C rs765268601 0.00001
NM_004168.4(SDHA):c.1065-17G>A rs1268945057 0.00001
NM_004168.4(SDHA):c.1065-7T>C rs1426933226 0.00001
NM_004168.4(SDHA):c.1110C>T (p.His370=) rs1579406318 0.00001
NM_004168.4(SDHA):c.1140G>C (p.Leu380=) rs146348714 0.00001
NM_004168.4(SDHA):c.1155G>A (p.Glu385=) rs765356526 0.00001
NM_004168.4(SDHA):c.1182C>T (p.Asp394=) rs377317558 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.1194G>A (p.Glu398=) rs1735703214 0.00001
NM_004168.4(SDHA):c.1197G>A (p.Pro399=) rs771919335 0.00001
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) rs777306884 0.00001
NM_004168.4(SDHA):c.1260+15T>C rs778457213 0.00001
NM_004168.4(SDHA):c.1261-5C>A rs751471707 0.00001
NM_004168.4(SDHA):c.1264C>T (p.Leu422=) rs1405485459 0.00001
NM_004168.4(SDHA):c.1281C>T (p.Gly427=) rs561918468 0.00001
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=) rs762494024 0.00001
NM_004168.4(SDHA):c.1323C>T (p.Ala441=) rs751561561 0.00001
NM_004168.4(SDHA):c.1398A>G (p.Ala466=) rs878854626 0.00001
NM_004168.4(SDHA):c.1410C>T (p.Ser470=) rs556476038 0.00001
NM_004168.4(SDHA):c.1432+16A>G rs753631065 0.00001
NM_004168.4(SDHA):c.1432+18G>C rs763298397 0.00001
NM_004168.4(SDHA):c.1461C>T (p.Asn487=) rs187540602 0.00001
NM_004168.4(SDHA):c.1476T>C (p.Ser492=) rs1376968004 0.00001
NM_004168.4(SDHA):c.150+12C>T rs773966272 0.00001
NM_004168.4(SDHA):c.150+18G>C rs759611800 0.00001
NM_004168.4(SDHA):c.151-6T>A rs1352062665 0.00001
NM_004168.4(SDHA):c.151-9C>T rs1734881724 0.00001
NM_004168.4(SDHA):c.1524A>G (p.Thr508=) rs1356814435 0.00001
NM_004168.4(SDHA):c.1551+4A>G rs928294715 0.00001
NM_004168.4(SDHA):c.1551+7G>C rs760796714 0.00001
NM_004168.4(SDHA):c.1552-13T>C rs1280763236 0.00001
NM_004168.4(SDHA):c.1552-14A>G rs762315793 0.00001
NM_004168.4(SDHA):c.1552-16A>G rs1418838846 0.00001
NM_004168.4(SDHA):c.1552-7G>A rs1351792129 0.00001
NM_004168.4(SDHA):c.1575G>A (p.Val525=) rs766757653 0.00001
NM_004168.4(SDHA):c.1590C>T (p.Ser530=) rs1060503701 0.00001
NM_004168.4(SDHA):c.1596G>A (p.Leu532=) rs1449742263 0.00001
NM_004168.4(SDHA):c.15G>A (p.Arg5=) rs1260744894 0.00001
NM_004168.4(SDHA):c.1605T>C (p.Gly535=) rs1219265731 0.00001
NM_004168.4(SDHA):c.1611G>A (p.Gly537=) rs1060505009 0.00001
NM_004168.4(SDHA):c.162G>A (p.Gln54=) rs1468436658 0.00001
NM_004168.4(SDHA):c.1644C>T (p.His548=) rs1126427 0.00001
NM_004168.4(SDHA):c.1663+19C>T rs1214851392 0.00001
NM_004168.4(SDHA):c.1663+20T>C rs1226482893 0.00001
NM_004168.4(SDHA):c.1664-13T>C rs1057524514 0.00001
NM_004168.4(SDHA):c.1695C>G (p.Thr565=) rs765113103 0.00001
NM_004168.4(SDHA):c.1707G>A (p.Gln569=) rs959934068 0.00001
NM_004168.4(SDHA):c.1734C>G (p.Thr578=) rs748328205 0.00001
NM_004168.4(SDHA):c.1794+17C>T rs747352875 0.00001
NM_004168.4(SDHA):c.1794+18G>A rs768882490 0.00001
NM_004168.4(SDHA):c.1794+19C>A rs776409305 0.00001
NM_004168.4(SDHA):c.1794+8T>A rs1050394308 0.00001
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=) rs1226342299 0.00001
NM_004168.4(SDHA):c.1827C>A (p.Pro609=) rs1060505006 0.00001
NM_004168.4(SDHA):c.1860G>A (p.Glu620=) rs1447230295 0.00001
NM_004168.4(SDHA):c.1879C>T (p.Leu627=) rs1169965410 0.00001
NM_004168.4(SDHA):c.1881G>C (p.Leu627=) rs1390181757 0.00001
NM_004168.4(SDHA):c.1890G>C (p.Val630=) rs1405784467 0.00001
NM_004168.4(SDHA):c.1893C>T (p.Asp631=) rs1364764796 0.00001
NM_004168.4(SDHA):c.1909-18C>T rs781153748 0.00001
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=) rs1444319863 0.00001
NM_004168.4(SDHA):c.1968C>T (p.Thr656=) rs3211499 0.00001
NM_004168.4(SDHA):c.1971C>T (p.Val657=) rs746083858 0.00001
NM_004168.4(SDHA):c.1974G>A (p.Pro658=) rs1042446 0.00001
NM_004168.4(SDHA):c.198G>A (p.Val66=) rs1429525714 0.00001
NM_004168.4(SDHA):c.19C>T (p.Leu7=) rs760964443 0.00001
NM_004168.4(SDHA):c.219C>G (p.Gly73=) rs776288745 0.00001
NM_004168.4(SDHA):c.228T>G (p.Ala76=) rs1416043203 0.00001
NM_004168.4(SDHA):c.237C>T (p.Gly79=) rs767927763 0.00001
NM_004168.4(SDHA):c.252G>T (p.Gly84=) rs753293451 0.00001
NM_004168.4(SDHA):c.312+16C>T rs771169259 0.00001
NM_004168.4(SDHA):c.313-8G>A rs1060503710 0.00001
NM_004168.4(SDHA):c.360G>A (p.Arg120=) rs1247649190 0.00001
NM_004168.4(SDHA):c.378C>T (p.Thr126=) rs756039268 0.00001
NM_004168.4(SDHA):c.390C>T (p.Ser130=) rs748976493 0.00001
NM_004168.4(SDHA):c.423C>T (p.Tyr141=) rs768897373 0.00001
NM_004168.4(SDHA):c.429G>A (p.Thr143=) rs906281170 0.00001
NM_004168.4(SDHA):c.456+10G>A rs781436294 0.00001
NM_004168.4(SDHA):c.456+16C>T rs748175384 0.00001
NM_004168.4(SDHA):c.456+18C>G rs770457461 0.00001
NM_004168.4(SDHA):c.457-11A>G rs748265289 0.00001
NM_004168.4(SDHA):c.457-16T>C rs371775474 0.00001
NM_004168.4(SDHA):c.471C>T (p.Gly157=) rs1553997722 0.00001
NM_004168.4(SDHA):c.477G>A (p.Pro159=) rs771741537 0.00001
NM_004168.4(SDHA):c.516A>G (p.Ala172=) rs181278759 0.00001
NM_004168.4(SDHA):c.534C>T (p.Leu178=) rs749329370 0.00001
NM_004168.4(SDHA):c.546G>A (p.Lys182=) rs757707693 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.564G>A (p.Arg188=) rs1579385933 0.00001
NM_004168.4(SDHA):c.57C>G (p.Ala19=) rs749948037 0.00001
NM_004168.4(SDHA):c.585G>C (p.Arg195=) rs766339992 0.00001
NM_004168.4(SDHA):c.621+10C>T rs1458669735 0.00001
NM_004168.4(SDHA):c.621+19A>G rs772849135 0.00001
NM_004168.4(SDHA):c.621+8C>T rs201091275 0.00001
NM_004168.4(SDHA):c.621+9G>A rs1060505005 0.00001
NM_004168.4(SDHA):c.627G>A (p.Leu209=) rs149821224 0.00001
NM_004168.4(SDHA):c.63+16G>C rs1252759825 0.00001
NM_004168.4(SDHA):c.633T>C (p.Tyr211=) rs1307665893 0.00001
NM_004168.4(SDHA):c.64-12C>T rs769476810 0.00001
NM_004168.4(SDHA):c.64-15C>T rs1388748464 0.00001
NM_004168.4(SDHA):c.64-19G>A rs1490248268 0.00001
NM_004168.4(SDHA):c.64-3C>T rs772607568 0.00001
NM_004168.4(SDHA):c.687G>A (p.Gly229=) rs775359678 0.00001
NM_004168.4(SDHA):c.6G>A (p.Ser2=) rs751383247 0.00001
NM_004168.4(SDHA):c.702C>T (p.Val234=) rs1205748459 0.00001
NM_004168.4(SDHA):c.708A>G (p.Ala236=) rs774277601 0.00001
NM_004168.4(SDHA):c.709C>T (p.Leu237=) rs1735173554 0.00001
NM_004168.4(SDHA):c.729C>T (p.Ser243=) rs778543446 0.00001
NM_004168.4(SDHA):c.770+7A>T rs770997653 0.00001
NM_004168.4(SDHA):c.831G>A (p.Thr277=) rs1470632146 0.00001
NM_004168.4(SDHA):c.852C>A (p.Gly284=) rs552108762 0.00001
NM_004168.4(SDHA):c.852C>G (p.Gly284=) rs552108762 0.00001
NM_004168.4(SDHA):c.858T>A (p.Pro286=) rs1553998661 0.00001
NM_004168.4(SDHA):c.895+6G>A rs765946047 0.00001
NM_004168.4(SDHA):c.895+8A>G rs892273080 0.00001
NM_004168.4(SDHA):c.896-4G>A rs555881974 0.00001
NM_004168.4(SDHA):c.954C>T (p.Leu318=) rs1412623947 0.00001
NM_004168.4(SDHA):c.960C>T (p.Asn320=) rs1289327970 0.00001
NM_004168.4(SDHA):c.975G>A (p.Arg325=) rs1418778005 0.00001
NM_004168.4(SDHA):c.990C>T (p.Tyr330=) rs370547766 0.00001
NM_004168.4(SDHA):c.9G>T (p.Gly3=) rs1252447154 0.00001
NM_013335.4(GMPPA):c.336G>A (p.Val112=) rs372560013 0.00001
NM_013335.4(GMPPA):c.447C>T (p.Ser149=) rs749971952 0.00001
NM_013335.4(GMPPA):c.571T>C (p.Leu191=) rs560095573 0.00001
NM_013335.4(GMPPA):c.783C>T (p.Tyr261=) rs778374979 0.00001
NM_017841.4(SDHAF2):c.207C>T (p.Arg69=) rs756825771 0.00001
NM_017841.4(SDHAF2):c.240G>A (p.Leu80=) rs1223446048 0.00001
NM_017841.4(SDHAF2):c.300G>A (p.Lys100=) rs1274218425 0.00001
NM_017841.4(SDHAF2):c.321C>T (p.Arg107=) rs754291669 0.00001
NM_017841.4(SDHAF2):c.324G>T (p.Leu108=) rs1426061764 0.00001
NM_017841.4(SDHAF2):c.36+19C>G rs780961861 0.00001
NM_017841.4(SDHAF2):c.36+6G>A rs1309376928 0.00001
NM_017841.4(SDHAF2):c.360C>T (p.Tyr120=) rs1328610836 0.00001
NM_017841.4(SDHAF2):c.387A>G (p.Pro129=) rs770383127 0.00001
NM_017841.4(SDHAF2):c.414C>T (p.Ala138=) rs766658781 0.00001
NM_017841.4(SDHAF2):c.450G>A (p.Glu150=) rs764146390 0.00001
NM_017849.4(TMEM127):c.102C>T (p.Ala34=) rs781643869 0.00001
NM_017849.4(TMEM127):c.115C>T (p.Leu39=) rs1323504449 0.00001
NM_017849.4(TMEM127):c.129G>A (p.Ala43=) rs1478096731 0.00001
NM_017849.4(TMEM127):c.12C>T (p.Pro4=) rs1406470818 0.00001
NM_017849.4(TMEM127):c.130C>T (p.Leu44=) rs754493061 0.00001
NM_017849.4(TMEM127):c.204C>T (p.Val68=) rs775642794 0.00001
NM_017849.4(TMEM127):c.245-3C>T rs181429509 0.00001
NM_017849.4(TMEM127):c.245-4A>G rs962270831 0.00001
NM_017849.4(TMEM127):c.245-7T>C rs1266586655 0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=) rs754465684 0.00001
NM_017849.4(TMEM127):c.315G>T (p.Leu105=) rs1440094325 0.00001
NM_017849.4(TMEM127):c.330T>C (p.Ala110=) rs1157106593 0.00001
NM_017849.4(TMEM127):c.333C>T (p.Phe111=) rs1467642553 0.00001
NM_017849.4(TMEM127):c.33C>T (p.Gly11=) rs1268280072 0.00001
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291 0.00001
NM_017849.4(TMEM127):c.384C>T (p.Arg128=) rs755188175 0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017849.4(TMEM127):c.408G>T (p.Thr136=) rs143522428 0.00001
NM_017849.4(TMEM127):c.410-18T>C rs1374413238 0.00001
NM_017849.4(TMEM127):c.410-5C>T rs1356874783 0.00001
NM_017849.4(TMEM127):c.411T>A (p.Val137=) rs760099422 0.00001
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.435C>G (p.Gly145=) rs761795793 0.00001
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854 0.00001
NM_017849.4(TMEM127):c.585C>T (p.Leu195=) rs758874572 0.00001
NM_017849.4(TMEM127):c.633C>T (p.Leu211=) rs368792184 0.00001
NM_017849.4(TMEM127):c.651C>T (p.Asn217=) rs759801591 0.00001
NM_017849.4(TMEM127):c.657C>T (p.Pro219=) rs1213216357 0.00001
NM_017849.4(TMEM127):c.663G>A (p.Pro221=) rs377760956 0.00001
NM_017849.4(TMEM127):c.666G>A (p.Ala222=) rs772481029 0.00001
NM_017849.4(TMEM127):c.99G>T (p.Ser33=) rs746237736 0.00001
NM_021098.3(CACNA1H):c.1007C>T (p.Ala336Val) rs1482045966 0.00001
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg) rs1171167857 0.00001
NM_021098.3(CACNA1H):c.1041C>T (p.Cys347=) rs757510335 0.00001
NM_021098.3(CACNA1H):c.1086C>T (p.Asp362=) rs1401076912 0.00001
NM_021098.3(CACNA1H):c.1120-4C>A rs765058001 0.00001
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg) rs770983743 0.00001
NM_021098.3(CACNA1H):c.1212+16A>G rs1027399786 0.00001
NM_021098.3(CACNA1H):c.1212+19G>A rs1261841681 0.00001
NM_021098.3(CACNA1H):c.1213-13G>A rs747424487 0.00001
NM_021098.3(CACNA1H):c.1213-14C>T rs1298937775 0.00001
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=) rs751828544 0.00001
NM_021098.3(CACNA1H):c.1242C>T (p.Cys414=) rs750964204 0.00001
NM_021098.3(CACNA1H):c.129G>A (p.Gly43=) rs1286201611 0.00001
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=) rs753868121 0.00001
NM_021098.3(CACNA1H):c.1321C>T (p.Leu441=) rs889849697 0.00001
NM_021098.3(CACNA1H):c.1378C>T (p.Leu460=) rs1164925886 0.00001
NM_021098.3(CACNA1H):c.1402T>C (p.Phe468Leu) rs1275378306 0.00001
NM_021098.3(CACNA1H):c.1419G>A (p.Arg473=) rs962535550 0.00001
NM_021098.3(CACNA1H):c.1428G>A (p.Leu476=) rs955579974 0.00001
NM_021098.3(CACNA1H):c.150C>T (p.Pro50=) rs1355571002 0.00001
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=) rs1355615330 0.00001
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=) rs1259091648 0.00001
NM_021098.3(CACNA1H):c.1695A>C (p.Gly565=) rs1272259379 0.00001
NM_021098.3(CACNA1H):c.16C>A (p.Arg6=) rs1257574455 0.00001
NM_021098.3(CACNA1H):c.1714G>A (p.Val572Met) rs750654433 0.00001
NM_021098.3(CACNA1H):c.1716G>T (p.Val572=) rs1324824751 0.00001
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg) rs1318871844 0.00001
NM_021098.3(CACNA1H):c.174C>T (p.Arg58=) rs1292472390 0.00001
NM_021098.3(CACNA1H):c.1763G>A (p.Arg588Lys) rs1439734393 0.00001
NM_021098.3(CACNA1H):c.195C>T (p.Asp65=) rs1052712888 0.00001
NM_021098.3(CACNA1H):c.1965T>C (p.Asp655=) rs1182779689 0.00001
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu) rs1474918637 0.00001
NM_021098.3(CACNA1H):c.1968C>T (p.Pro656=) rs1163122575 0.00001
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=) rs769960413 0.00001
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) rs772141645 0.00001
NM_021098.3(CACNA1H):c.2002+10C>T rs1388783364 0.00001
NM_021098.3(CACNA1H):c.2003-18C>G rs747207529 0.00001
NM_021098.3(CACNA1H):c.2175T>G (p.Arg725=) rs1427937474 0.00001
NM_021098.3(CACNA1H):c.2178C>T (p.Gly726=) rs565981897 0.00001
NM_021098.3(CACNA1H):c.2202C>G (p.Val734=) rs1222128472 0.00001
NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln) rs373764821 0.00001
NM_021098.3(CACNA1H):c.2238C>T (p.Pro746=) rs747810957 0.00001
NM_021098.3(CACNA1H):c.2303C>T (p.Ala768Val) rs957641440 0.00001
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=) rs761519926 0.00001
NM_021098.3(CACNA1H):c.2382C>T (p.Tyr794=) rs957047269 0.00001
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=) rs745614463 0.00001
NM_021098.3(CACNA1H):c.2452-12C>T rs762240161 0.00001
NM_021098.3(CACNA1H):c.2512C>T (p.Leu838=) rs951038626 0.00001
NM_021098.3(CACNA1H):c.2524C>T (p.Leu842=) rs561709486 0.00001
NM_021098.3(CACNA1H):c.2556C>T (p.Tyr852=) rs1227539325 0.00001
NM_021098.3(CACNA1H):c.2560C>T (p.Arg854Trp) rs200427760 0.00001
NM_021098.3(CACNA1H):c.2593G>A (p.Val865Met) rs1305844490 0.00001
NM_021098.3(CACNA1H):c.2603+9C>A rs1461999845 0.00001
NM_021098.3(CACNA1H):c.2604-18G>A rs139666228 0.00001
NM_021098.3(CACNA1H):c.2724G>A (p.Leu908=) rs958354749 0.00001
NM_021098.3(CACNA1H):c.2784C>T (p.Ile928=) rs757421073 0.00001
NM_021098.3(CACNA1H):c.2789+16C>T rs59952053 0.00001
NM_021098.3(CACNA1H):c.2789+9A>G rs1968695390 0.00001
NM_021098.3(CACNA1H):c.2790-17C>T rs1049605725 0.00001
NM_021098.3(CACNA1H):c.2790-9C>T rs1477219178 0.00001
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=) rs960703593 0.00001
NM_021098.3(CACNA1H):c.2835A>G (p.Thr945=) rs770089825 0.00001
NM_021098.3(CACNA1H):c.2908-4C>T rs937005376 0.00001
NM_021098.3(CACNA1H):c.2958C>T (p.Ser986=) rs1030378085 0.00001
NM_021098.3(CACNA1H):c.2976C>T (p.Ala992=) rs771600002 0.00001
NM_021098.3(CACNA1H):c.2991C>T (p.Ala997=) rs1173690981 0.00001
NM_021098.3(CACNA1H):c.3025C>T (p.Leu1009=) rs745927407 0.00001
NM_021098.3(CACNA1H):c.3036C>T (p.Ala1012=) rs780009943 0.00001
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=) rs757098120 0.00001
NM_021098.3(CACNA1H):c.3102G>A (p.Thr1034=) rs766896791 0.00001
NM_021098.3(CACNA1H):c.312C>T (p.His104=) rs370735613 0.00001
NM_021098.3(CACNA1H):c.3155-15C>T rs747740198 0.00001
NM_021098.3(CACNA1H):c.3155-18C>T rs368193392 0.00001
NM_021098.3(CACNA1H):c.3252C>G (p.Pro1084=) rs377223694 0.00001
NM_021098.3(CACNA1H):c.3262C>G (p.Pro1088Ala) rs1358707581 0.00001
NM_021098.3(CACNA1H):c.3291C>T (p.Ala1097=) rs368375074 0.00001
NM_021098.3(CACNA1H):c.3342A>G (p.Pro1114=) rs540298431 0.00001
NM_021098.3(CACNA1H):c.3347G>A (p.Gly1116Glu) rs757299200 0.00001
NM_021098.3(CACNA1H):c.3358C>T (p.Pro1120Ser) rs781140245 0.00001
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg) rs1431381776 0.00001
NM_021098.3(CACNA1H):c.3411C>T (p.Ala1137=) rs1307971452 0.00001
NM_021098.3(CACNA1H):c.3445G>A (p.Gly1149Ser) rs753696656 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.3495C>T (p.Ser1165=) rs1053534342 0.00001
NM_021098.3(CACNA1H):c.3501G>C (p.Leu1167=) rs1272961811 0.00001
NM_021098.3(CACNA1H):c.3531C>T (p.Asp1177=) rs954264851 0.00001
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr) rs529108681 0.00001
NM_021098.3(CACNA1H):c.3593C>T (p.Ser1198Phe) rs1337992114 0.00001
NM_021098.3(CACNA1H):c.3624C>T (p.Ala1208=) rs760038394 0.00001
NM_021098.3(CACNA1H):c.3630G>A (p.Pro1210=) rs764420422 0.00001
NM_021098.3(CACNA1H):c.3639G>A (p.Lys1213=) rs750319717 0.00001
NM_021098.3(CACNA1H):c.3651C>T (p.Arg1217=) rs929083218 0.00001
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=) rs200922359 0.00001
NM_021098.3(CACNA1H):c.3675C>T (p.Pro1225=) rs1454878776 0.00001
NM_021098.3(CACNA1H):c.36G>C (p.Arg12=) rs1961896272 0.00001
NM_021098.3(CACNA1H):c.3702C>T (p.Ser1234=) rs1176658784 0.00001
NM_021098.3(CACNA1H):c.3819C>T (p.Ala1273=) rs746638277 0.00001
NM_021098.3(CACNA1H):c.3845+12G>A rs1269104392 0.00001
NM_021098.3(CACNA1H):c.3845+9G>A rs1357923086 0.00001
NM_021098.3(CACNA1H):c.3855C>T (p.Val1285=) rs370662005 0.00001
NM_021098.3(CACNA1H):c.3894C>T (p.His1298=) rs779815222 0.00001
NM_021098.3(CACNA1H):c.3903C>T (p.Leu1301=) rs745990247 0.00001
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=) rs929332183 0.00001
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) rs200353061 0.00001
NM_021098.3(CACNA1H):c.393G>A (p.Glu131=) rs764502915 0.00001
NM_021098.3(CACNA1H):c.3972G>A (p.Glu1324=) rs772220413 0.00001
NM_021098.3(CACNA1H):c.39G>A (p.Val13=) rs1306573144 0.00001
NM_021098.3(CACNA1H):c.4005C>T (p.Phe1335=) rs1196975977 0.00001
NM_021098.3(CACNA1H):c.4039-11G>A rs369310607 0.00001
NM_021098.3(CACNA1H):c.4039-8C>T rs757467258 0.00001
NM_021098.3(CACNA1H):c.4086C>T (p.Ser1362=) rs767588625 0.00001
NM_021098.3(CACNA1H):c.411+17G>A rs905191886 0.00001
NM_021098.3(CACNA1H):c.412-13C>T rs1481054800 0.00001
NM_021098.3(CACNA1H):c.412-4G>A rs747026006 0.00001
NM_021098.3(CACNA1H):c.4223+15G>A rs751557016 0.00001
NM_021098.3(CACNA1H):c.4223+8G>T rs759696447 0.00001
NM_021098.3(CACNA1H):c.4290T>C (p.Ile1430=) rs1596458193 0.00001
NM_021098.3(CACNA1H):c.4293G>A (p.Gly1431=) rs759183838 0.00001
NM_021098.3(CACNA1H):c.4350+15C>T rs745322715 0.00001
NM_021098.3(CACNA1H):c.4350+9C>A rs1226634173 0.00001
NM_021098.3(CACNA1H):c.4351-15G>A rs1366007380 0.00001
NM_021098.3(CACNA1H):c.4351-7C>T rs757005584 0.00001
NM_021098.3(CACNA1H):c.4351-9C>T rs1268437341 0.00001
NM_021098.3(CACNA1H):c.4427C>T (p.Ala1476Val) rs781394652 0.00001
NM_021098.3(CACNA1H):c.4467C>T (p.Asn1489=) rs565030846 0.00001
NM_021098.3(CACNA1H):c.4476+16G>A rs746670693 0.00001
NM_021098.3(CACNA1H):c.4527C>T (p.Ile1509=) rs1384457303 0.00001
NM_021098.3(CACNA1H):c.453G>A (p.Met151Ile) rs1490633400 0.00001
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=) rs986374718 0.00001
NM_021098.3(CACNA1H):c.4567-16C>T rs759275235 0.00001
NM_021098.3(CACNA1H):c.456C>T (p.Val152=) rs778939514 0.00001
NM_021098.3(CACNA1H):c.4615C>T (p.Leu1539=) rs1165174775 0.00001
NM_021098.3(CACNA1H):c.4704G>A (p.Glu1568=) rs967037376 0.00001
NM_021098.3(CACNA1H):c.4710G>A (p.Ala1570=) rs759616283 0.00001
NM_021098.3(CACNA1H):c.4760-5T>A rs1474686670 0.00001
NM_021098.3(CACNA1H):c.4773C>A (p.Ser1591Arg) rs777805727 0.00001
NM_021098.3(CACNA1H):c.478C>T (p.Leu160=) rs746919701 0.00001
NM_021098.3(CACNA1H):c.4794C>G (p.Pro1598=) rs1442524100 0.00001
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) rs531597200 0.00001
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=) rs576335604 0.00001
NM_021098.3(CACNA1H):c.4930-5C>T rs1475010597 0.00001
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg) rs749032674 0.00001
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=) rs776954477 0.00001
NM_021098.3(CACNA1H):c.5010A>G (p.Ala1670=) rs774645679 0.00001
NM_021098.3(CACNA1H):c.5052G>A (p.Leu1684=) rs374459574 0.00001
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=) rs779699766 0.00001
NM_021098.3(CACNA1H):c.5115C>T (p.Ala1705=) rs773959483 0.00001
NM_021098.3(CACNA1H):c.5118G>A (p.Ala1706=) rs777120591 0.00001
NM_021098.3(CACNA1H):c.5124C>A (p.Pro1708=) rs765715871 0.00001
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=) rs1182772693 0.00001
NM_021098.3(CACNA1H):c.5182C>T (p.Leu1728=) rs1267755673 0.00001
NM_021098.3(CACNA1H):c.5211C>T (p.Ala1737=) rs376540095 0.00001
NM_021098.3(CACNA1H):c.5217G>C (p.Leu1739=) rs370996432 0.00001
NM_021098.3(CACNA1H):c.5238C>T (p.Leu1746=) rs562034574 0.00001
NM_021098.3(CACNA1H):c.5268C>T (p.Phe1756=) rs1309047669 0.00001
NM_021098.3(CACNA1H):c.5296C>T (p.Leu1766=) rs1002262167 0.00001
NM_021098.3(CACNA1H):c.5324-14C>T rs1047674521 0.00001
NM_021098.3(CACNA1H):c.5324-5C>T rs1415182945 0.00001
NM_021098.3(CACNA1H):c.5446-4G>A rs1596475485 0.00001
NM_021098.3(CACNA1H):c.5446-6C>A rs923710949 0.00001
NM_021098.3(CACNA1H):c.545+10G>T rs748867788 0.00001
NM_021098.3(CACNA1H):c.545+14G>A rs1175410177 0.00001
NM_021098.3(CACNA1H):c.5451G>A (p.Thr1817=) rs1458725860 0.00001
NM_021098.3(CACNA1H):c.546-5C>T rs369016752 0.00001
NM_021098.3(CACNA1H):c.546-9C>T rs375982567 0.00001
NM_021098.3(CACNA1H):c.5526C>T (p.Thr1842=) rs375175536 0.00001
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=) rs758391189 0.00001
NM_021098.3(CACNA1H):c.5550G>T (p.Val1850=) rs1175007347 0.00001
NM_021098.3(CACNA1H):c.5571C>T (p.Ala1857=) rs964898056 0.00001
NM_021098.3(CACNA1H):c.5577C>T (p.Leu1859=) rs1305738018 0.00001
NM_021098.3(CACNA1H):c.561G>A (p.Ser187=) rs762058094 0.00001
NM_021098.3(CACNA1H):c.5640C>T (p.Ile1880=) rs757358788 0.00001
NM_021098.3(CACNA1H):c.5685C>T (p.Asp1895=) rs1463806903 0.00001
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser) rs367594144 0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467 0.00001
NM_021098.3(CACNA1H):c.5700C>A (p.Pro1900=) rs546638839 0.00001
NM_021098.3(CACNA1H):c.5787C>T (p.Asn1929=) rs747958775 0.00001
NM_021098.3(CACNA1H):c.5826G>A (p.Ala1942=) rs750936189 0.00001
NM_021098.3(CACNA1H):c.5887+20G>A rs759713896 0.00001
NM_021098.3(CACNA1H):c.5887+8A>G rs1258785345 0.00001
NM_021098.3(CACNA1H):c.5888-9C>T rs1970258800 0.00001
NM_021098.3(CACNA1H):c.5916C>T (p.Pro1972=) rs979429805 0.00001
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=) rs896695448 0.00001
NM_021098.3(CACNA1H):c.5952T>C (p.Ala1984=) rs1472691681 0.00001
NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu) rs1165393509 0.00001
NM_021098.3(CACNA1H):c.5973C>T (p.Ser1991=) rs753397534 0.00001
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg) rs1357838162 0.00001
NM_021098.3(CACNA1H):c.601G>A (p.Val201Met) rs773312766 0.00001
NM_021098.3(CACNA1H):c.6044G>A (p.Arg2015Lys) rs1450150367 0.00001
NM_021098.3(CACNA1H):c.6049-9C>T rs770614313 0.00001
NM_021098.3(CACNA1H):c.6135G>A (p.Pro2045=) rs762582199 0.00001
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg) rs754154177 0.00001
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760 0.00001
NM_021098.3(CACNA1H):c.6258A>G (p.Pro2086=) rs781453065 0.00001
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr) rs570207081 0.00001
NM_021098.3(CACNA1H):c.6265G>C (p.Glu2089Gln) rs942767507 0.00001
NM_021098.3(CACNA1H):c.6271G>T (p.Ala2091Ser) rs749106645 0.00001
NM_021098.3(CACNA1H):c.6282G>A (p.Ser2094=) rs770576341 0.00001
NM_021098.3(CACNA1H):c.6291C>T (p.Ala2097=) rs372174504 0.00001
NM_021098.3(CACNA1H):c.6294C>T (p.Asp2098=) rs764545961 0.00001
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val) rs778892614 0.00001
NM_021098.3(CACNA1H):c.6327C>T (p.Cys2109=) rs777082647 0.00001
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile) rs774915687 0.00001
NM_021098.3(CACNA1H):c.636C>T (p.Arg212=) rs748157994 0.00001
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) rs372453886 0.00001
NM_021098.3(CACNA1H):c.6372G>A (p.Pro2124=) rs756801348 0.00001
NM_021098.3(CACNA1H):c.6375G>C (p.Val2125=) rs964390335 0.00001
NM_021098.3(CACNA1H):c.6390G>A (p.Arg2130=) rs1462959015 0.00001
NM_021098.3(CACNA1H):c.63C>T (p.Gly21=) rs1261320353 0.00001
NM_021098.3(CACNA1H):c.643+10C>T rs776343389 0.00001
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=) rs759684037 0.00001
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=) rs1555520987 0.00001
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=) rs113962757 0.00001
NM_021098.3(CACNA1H):c.6492G>A (p.Glu2164=) rs768879342 0.00001
NM_021098.3(CACNA1H):c.6495T>C (p.Pro2165=) rs773249106 0.00001
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg) rs746446797 0.00001
NM_021098.3(CACNA1H):c.6534T>C (p.Ala2178=) rs760596901 0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) rs776161185 0.00001
NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn) rs898257627 0.00001
NM_021098.3(CACNA1H):c.6567C>T (p.Pro2189=) rs1453508883 0.00001
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser) rs746807446 0.00001
NM_021098.3(CACNA1H):c.6612G>A (p.Ala2204=) rs757987443 0.00001
NM_021098.3(CACNA1H):c.6645A>G (p.Thr2215=) rs1402669757 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.6694C>T (p.Leu2232=) rs1366621639 0.00001
NM_021098.3(CACNA1H):c.6714A>T (p.Ser2238=) rs1970410954 0.00001
NM_021098.3(CACNA1H):c.6768C>T (p.Cys2256=) rs902663333 0.00001
NM_021098.3(CACNA1H):c.6771G>T (p.Arg2257=) rs763302946 0.00001
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=) rs1176114621 0.00001
NM_021098.3(CACNA1H):c.678G>A (p.Thr226=) rs367793790 0.00001
NM_021098.3(CACNA1H):c.6819C>T (p.Leu2273=) rs746731481 0.00001
NM_021098.3(CACNA1H):c.6846G>A (p.Leu2282=) rs58394025 0.00001
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=) rs993061665 0.00001
NM_021098.3(CACNA1H):c.7002G>A (p.Glu2334=) rs1006975748 0.00001
NM_021098.3(CACNA1H):c.714C>T (p.Phe238=) rs748186171 0.00001
NM_021098.3(CACNA1H):c.738C>T (p.Ile246=) rs762427859 0.00001
NM_021098.3(CACNA1H):c.741T>C (p.Val247=) rs952784900 0.00001
NM_021098.3(CACNA1H):c.759T>C (p.Ala253=) rs1425714661 0.00001
NM_021098.3(CACNA1H):c.784C>T (p.Leu262=) rs770443592 0.00001
NM_021098.3(CACNA1H):c.803+19C>T rs538938996 0.00001
NM_021098.3(CACNA1H):c.803+7del rs1478115948 0.00001
NM_021098.3(CACNA1H):c.804-4C>T rs905366458 0.00001
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=) rs747311145 0.00001
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser) rs201911360 0.00001
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=) rs761655532 0.00001
NM_021098.3(CACNA1H):c.909G>A (p.Ser303=) rs771877421 0.00001
NM_021098.3(CACNA1H):c.954C>G (p.Gly318=) rs1330712942 0.00001
NM_021098.3(CACNA1H):c.969G>A (p.Thr323=) rs564108356 0.00001
NM_021098.3(CACNA1H):c.99C>G (p.Pro33=) rs778266598 0.00001
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=) rs2148392000
NM_000033.4(ABCD1):c.1029C>T (p.Gly343=)
NM_000033.4(ABCD1):c.1035C>T (p.Leu345=) rs2148392032
NM_000033.4(ABCD1):c.1047C>T (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1050C>T (p.Pro350=)
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=) rs2148392053
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1081+13G>A
NM_000033.4(ABCD1):c.1081+13G>C
NM_000033.4(ABCD1):c.1081+20G>C
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG rs2148392098
NM_000033.4(ABCD1):c.1082-13T>C rs2148395341
NM_000033.4(ABCD1):c.1082-13T>G
NM_000033.4(ABCD1):c.1082-15T>A
NM_000033.4(ABCD1):c.1082-15T>C
NM_000033.4(ABCD1):c.1082-15T>G
NM_000033.4(ABCD1):c.1082-16C>T rs2148395336
NM_000033.4(ABCD1):c.1082-19C>T
NM_000033.4(ABCD1):c.1082-20A>C
NM_000033.4(ABCD1):c.1082-20A>G
NM_000033.4(ABCD1):c.1082-4G>A rs1557054152
NM_000033.4(ABCD1):c.1082-7T>G
NM_000033.4(ABCD1):c.1082-8C>T
NM_000033.4(ABCD1):c.1083T>C (p.Asp361=)
NM_000033.4(ABCD1):c.1089G>A (p.Glu363=)
NM_000033.4(ABCD1):c.108G>T (p.Val36=)
NM_000033.4(ABCD1):c.1093G>A (p.Val365Met) rs782518797
NM_000033.4(ABCD1):c.1093G>C (p.Val365Leu)
NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu)
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=) rs2148395382
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=)
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=)
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)
NM_000033.4(ABCD1):c.114G>A (p.Gln38=) rs2148388662
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=)
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=) rs2148395439
NM_000033.4(ABCD1):c.1167C>T (p.Arg389=)
NM_000033.4(ABCD1):c.1179A>C (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.1179A>G (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.117C>T (p.Cys39=) rs1557052192
NM_000033.4(ABCD1):c.1182G>T (p.Ala394=) rs782515233
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=) rs375656638
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=)
NM_000033.4(ABCD1):c.1224+20A>C
NM_000033.4(ABCD1):c.1224+7C>T
NM_000033.4(ABCD1):c.1224+8del rs1440978011
NM_000033.4(ABCD1):c.1225-10C>T rs2148395562
NM_000033.4(ABCD1):c.1225-11C>A
NM_000033.4(ABCD1):c.1225-15G>A
NM_000033.4(ABCD1):c.1225-7C>T rs2091749716
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)
NM_000033.4(ABCD1):c.123C>A (p.Ala41=) rs2091703479
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=)
NM_000033.4(ABCD1):c.125C>T (p.Pro42Leu)
NM_000033.4(ABCD1):c.1260C>T (p.His420=)
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=) rs2148395615
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=)
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=) rs2148395631
NM_000033.4(ABCD1):c.1292G>A (p.Arg431His)
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr)
NM_000033.4(ABCD1):c.1296T>C (p.Cys432=)
NM_000033.4(ABCD1):c.129C>G (p.Ala43=) rs2148388691
NM_000033.4(ABCD1):c.12C>G (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.12C>T (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.1320A>G (p.Leu440=) rs1381466544
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu)
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=) rs2148395665
NM_000033.4(ABCD1):c.1338G>C (p.Gly446=)
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met)
NM_000033.4(ABCD1):c.1354C>A (p.Arg452=) rs368061976
NM_000033.4(ABCD1):c.1356G>A (p.Arg452=) rs2148395685
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro)
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=) rs1557054238
NM_000033.4(ABCD1):c.1377C>T (p.Gly459=)
NM_000033.4(ABCD1):c.1393+13C>A
NM_000033.4(ABCD1):c.1393+14C>T
NM_000033.4(ABCD1):c.1393+8T>C rs2091750670
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT
NM_000033.4(ABCD1):c.1393+9G>T
NM_000033.4(ABCD1):c.1394-10G>A
NM_000033.4(ABCD1):c.1394-10G>C
NM_000033.4(ABCD1):c.1394-10_1394-9del rs2148396014
NM_000033.4(ABCD1):c.1394-15G>A
NM_000033.4(ABCD1):c.1394-17C>T
NM_000033.4(ABCD1):c.1394-18G>T
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=)
NM_000033.4(ABCD1):c.1401G>A (p.Val467=) rs1603234733
NM_000033.4(ABCD1):c.1419G>A (p.Gly473=) rs2148396042
NM_000033.4(ABCD1):c.1419G>C (p.Gly473=)
NM_000033.4(ABCD1):c.141G>A (p.Gln47=)
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys)
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=)
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=) rs2148396060
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)
NM_000033.4(ABCD1):c.1449G>A (p.Thr483=) rs1453531275
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) rs1557052209
NM_000033.4(ABCD1):c.1458A>G (p.Gly486=) rs2091753037
NM_000033.4(ABCD1):c.1464G>C (p.Val488=) rs2148396096
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=) rs2148396110
NM_000033.4(ABCD1):c.147C>T (p.Pro49=) rs782397391
NM_000033.4(ABCD1):c.1485C>T (p.Ile495=) rs1557054328
NM_000033.4(ABCD1):c.1488+10G>A rs1847185945
NM_000033.4(ABCD1):c.1488+12G>A
NM_000033.4(ABCD1):c.1488+17G>C
NM_000033.4(ABCD1):c.1488+20C>G
NM_000033.4(ABCD1):c.1488+7C>T
NM_000033.4(ABCD1):c.1488+9A>G rs1603234781
NM_000033.4(ABCD1):c.1489-10G>A
NM_000033.4(ABCD1):c.1489-14T>C
NM_000033.4(ABCD1):c.1489-17G>A
NM_000033.4(ABCD1):c.1489-17G>C rs375632296
NM_000033.4(ABCD1):c.1489-20A>G
NM_000033.4(ABCD1):c.1489-4G>C rs1318153626
NM_000033.4(ABCD1):c.1489-9C>A rs782323354
NM_000033.4(ABCD1):c.1489-9C>T
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=) rs2091762206
NM_000033.4(ABCD1):c.150C>T (p.Ala50=) rs1932354237
NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg)
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)
NM_000033.4(ABCD1):c.1569C>G (p.Leu523=) rs2148397606
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=) rs2091762690
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=) rs2148397628
NM_000033.4(ABCD1):c.1605A>G (p.Pro535=) rs2091762849
NM_000033.4(ABCD1):c.1608C>T (p.Pro536=)
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His)
NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu)
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=)
NM_000033.4(ABCD1):c.162G>A (p.Thr54=)
NM_000033.4(ABCD1):c.1634+11C>G
NM_000033.4(ABCD1):c.1634+16C>T
NM_000033.4(ABCD1):c.1634+17G>A
NM_000033.4(ABCD1):c.1634+9G>A rs2148397684
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=) rs2148397902
NM_000033.4(ABCD1):c.1659G>A (p.Leu553=)
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=)
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)
NM_000033.4(ABCD1):c.1716G>T (p.Ser572=) rs1482177539
NM_000033.4(ABCD1):c.1719G>A (p.Glu573=) rs2148397951
NM_000033.4(ABCD1):c.171C>T (p.Ala57=) rs782317790
NM_000033.4(ABCD1):c.1734C>T (p.Ala578=) rs782803612
NM_000033.4(ABCD1):c.173C>G (p.Ser58Cys)
NM_000033.4(ABCD1):c.173C>T (p.Ser58Phe) rs781943986
NM_000033.4(ABCD1):c.1746C>G (p.Val582=) rs1557054863
NM_000033.4(ABCD1):c.174C>T (p.Ser58=)
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=) rs2091765039
NM_000033.4(ABCD1):c.1773G>C (p.Arg591=)
NM_000033.4(ABCD1):c.177G>A (p.Gly59=) rs2148388761
NM_000033.4(ABCD1):c.1780+14G>A
NM_000033.4(ABCD1):c.1780+7G>A rs2148398011
NM_000033.4(ABCD1):c.1781-16C>A
NM_000033.4(ABCD1):c.1781-16C>G
NM_000033.4(ABCD1):c.1781-16C>T rs781992192
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1788G>A (p.Glu596=)
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=)
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=) rs1228301857
NM_000033.4(ABCD1):c.180C>A (p.Val60=)
NM_000033.4(ABCD1):c.180C>T (p.Val60=) rs2148388770
NM_000033.4(ABCD1):c.1812C>T (p.Val604=)
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=)
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.1821T>G (p.Gly607=)
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=)
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=)
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=) rs2148399072
NM_000033.4(ABCD1):c.1865+17G>A rs377149542
NM_000033.4(ABCD1):c.1865+7A>G
NM_000033.4(ABCD1):c.1866-10G>T rs398123108
NM_000033.4(ABCD1):c.1866-13C>T rs200238438
NM_000033.4(ABCD1):c.1866-16C>T
NM_000033.4(ABCD1):c.1866-18C>T
NM_000033.4(ABCD1):c.1866-19T>C
NM_000033.4(ABCD1):c.1866-4C>T rs2091773412
NM_000033.4(ABCD1):c.1866-7C>A
NM_000033.4(ABCD1):c.1866-7C>T rs1569541199
NM_000033.4(ABCD1):c.186G>A (p.Ala62=)
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=) rs1557055315
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=) rs782072619
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) rs781837108
NM_000033.4(ABCD1):c.189C>T (p.Ala63=)
NM_000033.4(ABCD1):c.1905G>T (p.Val635=)
NM_000033.4(ABCD1):c.1917G>A (p.Val639=)
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=) rs2148399250
NM_000033.4(ABCD1):c.1929C>A (p.Ile643=) rs2148399255
NM_000033.4(ABCD1):c.1932C>T (p.Phe644=) rs2148399261
NM_000033.4(ABCD1):c.1935G>A (p.Gln645=)
NM_000033.4(ABCD1):c.1941C>T (p.Ala647=) rs2148399272
NM_000033.4(ABCD1):c.1944G>A (p.Lys648=) rs2148399276
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=) rs74315281
NM_000033.4(ABCD1):c.1965C>G (p.Leu655=)
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=)
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=)
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=)
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=) rs2148399324
NM_000033.4(ABCD1):c.198C>T (p.Gly66=)
NM_000033.4(ABCD1):c.1991+10C>G
NM_000033.4(ABCD1):c.1991+14C>T
NM_000033.4(ABCD1):c.1992-10T>C rs2148399435
NM_000033.4(ABCD1):c.1992-4C>T
NM_000033.4(ABCD1):c.1992-8C>T rs1603236074
NM_000033.4(ABCD1):c.1992-9C>A
NM_000033.4(ABCD1):c.1992-9C>T rs1424057229
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) rs1569541208
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=) rs2148399523
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=)
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=)
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=) rs2148399557
NM_000033.4(ABCD1):c.2118T>A (p.Ile706=) rs1557055431
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=) rs1557055435
NM_000033.4(ABCD1):c.2136C>T (p.Arg712=)
NM_000033.4(ABCD1):c.2139C>T (p.Leu713=)
NM_000033.4(ABCD1):c.2148C>T (p.Leu716=)
NM_000033.4(ABCD1):c.214C>T (p.Leu72=) rs2148388808
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=)
NM_000033.4(ABCD1):c.2169C>G (p.Ala723=)
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=) rs2148399612
NM_000033.4(ABCD1):c.2178A>G (p.Pro726=)
NM_000033.4(ABCD1):c.2184T>C (p.His728=)
NM_000033.4(ABCD1):c.2190G>C (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2199C>T (p.Ser733=) rs2148399640
NM_000033.4(ABCD1):c.21C>T (p.Pro7=) rs2148388528
NM_000033.4(ABCD1):c.2208C>T (p.Gly736=)
NM_000033.4(ABCD1):c.2211T>C (p.Pro737=)
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=) rs2148399657
NM_000033.4(ABCD1):c.225C>A (p.Leu75=)
NM_000033.4(ABCD1):c.244C>T (p.Leu82=)
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln)
NM_000033.4(ABCD1):c.273G>A (p.Thr91=) rs2148388896
NM_000033.4(ABCD1):c.282G>A (p.Leu94=) rs2148388909
NM_000033.4(ABCD1):c.285C>A (p.Ala95=)
NM_000033.4(ABCD1):c.285C>T (p.Ala95=)
NM_000033.4(ABCD1):c.286C>T (p.Leu96=)
NM_000033.4(ABCD1):c.297C>G (p.Ala99=) rs889405096
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)
NM_000033.4(ABCD1):c.300C>A (p.Ala100=)
NM_000033.4(ABCD1):c.306G>A (p.Val102=) rs2148388966
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)
NM_000033.4(ABCD1):c.318C>T (p.Phe106=)
NM_000033.4(ABCD1):c.324G>C (p.Ser108=)
NM_000033.4(ABCD1):c.324G>T (p.Ser108=)
NM_000033.4(ABCD1):c.327G>A (p.Val109=)
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000033.4(ABCD1):c.351G>A (p.Arg117=)
NM_000033.4(ABCD1):c.352C>T (p.Leu118=)
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser)
NM_000033.4(ABCD1):c.357C>T (p.Ala119=) rs1603231862
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)
NM_000033.4(ABCD1):c.372C>G (p.Arg124=) rs2148389085
NM_000033.4(ABCD1):c.378C>T (p.Asp126=)
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)
NM_000033.4(ABCD1):c.390T>C (p.Phe130=) rs2148389114
NM_000033.4(ABCD1):c.408G>A (p.Gln136=)
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
NM_000033.4(ABCD1):c.423C>T (p.Ala141=) rs2091706712
NM_000033.4(ABCD1):c.435C>G (p.Thr145=)
NM_000033.4(ABCD1):c.438C>T (p.Phe146=)
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile)
NM_000033.4(ABCD1):c.43C>T (p.Leu15=) rs2148388577
NM_000033.4(ABCD1):c.441C>T (p.Val147=) rs2148389207
NM_000033.4(ABCD1):c.450C>T (p.Ala150=)
NM_000033.4(ABCD1):c.45G>A (p.Leu15=)
NM_000033.4(ABCD1):c.460C>T (p.Leu154=) rs781895141
NM_000033.4(ABCD1):c.474G>A (p.Leu158=)
NM_000033.4(ABCD1):c.478C>T (p.Leu160=) rs2091707295
NM_000033.4(ABCD1):c.480G>A (p.Leu160=) rs2148389255
NM_000033.4(ABCD1):c.489C>T (p.Arg163=)
NM_000033.4(ABCD1):c.495T>G (p.Arg165=) rs2148389295
NM_000033.4(ABCD1):c.498G>A (p.Leu166=)
NM_000033.4(ABCD1):c.501G>C (p.Val167=) rs2148389307
NM_000033.4(ABCD1):c.504C>T (p.Ala168=)
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=)
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys)
NM_000033.4(ABCD1):c.531G>A (p.Gln177=)
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys)
NM_000033.4(ABCD1):c.546G>A (p.Arg182=)
NM_000033.4(ABCD1):c.546G>T (p.Arg182=) rs2091708238
NM_000033.4(ABCD1):c.549C>G (p.Val183=)
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)
NM_000033.4(ABCD1):c.573C>A (p.Arg191=)
NM_000033.4(ABCD1):c.579T>G (p.Pro193=)
NM_000033.4(ABCD1):c.57C>T (p.Ala19=) rs1603231679
NM_000033.4(ABCD1):c.582C>T (p.Asp194=)
NM_000033.4(ABCD1):c.588T>C (p.Ser196=)
NM_000033.4(ABCD1):c.589C>T (p.Leu197=) rs2148389466
NM_000033.4(ABCD1):c.591G>A (p.Leu197=) rs2148389468
NM_000033.4(ABCD1):c.594G>C (p.Thr198=) rs782046246
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu)
NM_000033.4(ABCD1):c.603G>T (p.Val201=)
NM_000033.4(ABCD1):c.609C>G (p.Ala203=)
NM_000033.4(ABCD1):c.633C>G (p.Leu211=) rs145009407
NM_000033.4(ABCD1):c.648C>G (p.Thr216=) rs782200450
NM_000033.4(ABCD1):c.648C>T (p.Thr216=)
NM_000033.4(ABCD1):c.658C>T (p.Leu220=) rs2148389558
NM_000033.4(ABCD1):c.669T>C (p.Ala223=) rs2148389594
NM_000033.4(ABCD1):c.66G>C (p.Leu22=)
NM_000033.4(ABCD1):c.684C>T (p.Thr228=) rs2148389624
NM_000033.4(ABCD1):c.696G>A (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.6G>A (p.Pro2=) rs2091702415
NM_000033.4(ABCD1):c.6G>T (p.Pro2=)
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)
NM_000033.4(ABCD1):c.702C>T (p.Arg234=) rs2148389678
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)
NM_000033.4(ABCD1):c.708T>G (p.Arg236=)
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)
NM_000033.4(ABCD1):c.720A>C (p.Thr240=) rs1302310288
NM_000033.4(ABCD1):c.732G>C (p.Ser244=) rs782643462
NM_000033.4(ABCD1):c.732G>T (p.Ser244=)
NM_000033.4(ABCD1):c.738C>T (p.Ile246=) rs2148389730
NM_000033.4(ABCD1):c.741C>T (p.Ala247=)
NM_000033.4(ABCD1):c.747C>G (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.747C>T (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.750G>A (p.Val250=)
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.75G>A (p.Ala25=)
NM_000033.4(ABCD1):c.762G>A (p.Thr254=)
NM_000033.4(ABCD1):c.762G>C (p.Thr254=)
NM_000033.4(ABCD1):c.762G>T (p.Thr254=) rs1557052528
NM_000033.4(ABCD1):c.765C>G (p.Ala255=) rs2148389784
NM_000033.4(ABCD1):c.780C>A (p.Ala260=)
NM_000033.4(ABCD1):c.798G>A (p.Gly266=) rs2148389855
NM_000033.4(ABCD1):c.804G>A (p.Leu268=) rs1270284411
NM_000033.4(ABCD1):c.804G>C (p.Leu268=)
NM_000033.4(ABCD1):c.825G>A (p.Arg275=) rs2148389893
NM_000033.4(ABCD1):c.828G>A (p.Lys276=) rs2148389897
NM_000033.4(ABCD1):c.852G>A (p.Ser284=) rs1034154728
NM_000033.4(ABCD1):c.855T>C (p.Arg285=) rs1471236066
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)
NM_000033.4(ABCD1):c.879C>T (p.Ile293=) rs1176122000
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=) rs2091712169
NM_000033.4(ABCD1):c.900+17T>A
NM_000033.4(ABCD1):c.900+18G>A
NM_000033.4(ABCD1):c.900+20C>T
NM_000033.4(ABCD1):c.900+8A>G rs2148390036
NM_000033.4(ABCD1):c.901-18G>A
NM_000033.4(ABCD1):c.901-4G>C rs782306934
NM_000033.4(ABCD1):c.901-6C>G
NM_000033.4(ABCD1):c.901-7C>A
NM_000033.4(ABCD1):c.901-8C>T
NM_000033.4(ABCD1):c.901-9C>T rs782602840
NM_000033.4(ABCD1):c.912C>G (p.Ala304=)
NM_000033.4(ABCD1):c.924C>T (p.Arg308=)
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
NM_000033.4(ABCD1):c.936C>T (p.Asp312=) rs782131008
NM_000033.4(ABCD1):c.93A>G (p.Lys31=) rs2148388633
NM_000033.4(ABCD1):c.945G>T (p.Ser315=) rs145545199
NM_000033.4(ABCD1):c.948G>A (p.Gln316=) rs2148391960
NM_000033.4(ABCD1):c.951C>A (p.Ile317=) rs2148391963
NM_000033.4(ABCD1):c.957C>G (p.Leu319=)
NM_000033.4(ABCD1):c.963T>C (p.Leu321=)
NM_000033.4(ABCD1):c.975G>T (p.Leu325=)
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=) rs1179912920
NM_000383.4(AIRE):c.1002C>G (p.Thr334=) rs2146382261
NM_000383.4(AIRE):c.1008G>A (p.Arg336=) rs2146382269
NM_000383.4(AIRE):c.1017C>T (p.Ser339=) rs2040549304
NM_000383.4(AIRE):c.1020C>T (p.Cys340=)
NM_000383.4(AIRE):c.1023G>T (p.Leu341=) rs1352758309
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)
NM_000383.4(AIRE):c.102C>T (p.Asp34=)
NM_000383.4(AIRE):c.1035C>G (p.Val345=) rs1480626384
NM_000383.4(AIRE):c.1044G>T (p.Val348=)
NM_000383.4(AIRE):c.1062G>A (p.Glu354=) rs867985822
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
NM_000383.4(AIRE):c.1089G>A (p.Glu363=) rs1317375627
NM_000383.4(AIRE):c.1092C>G (p.Thr364=) rs1367419200
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
NM_000383.4(AIRE):c.1095+10C>A rs372932833
NM_000383.4(AIRE):c.1095+18C>T
NM_000383.4(AIRE):c.1095+19C>T
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+23_1095+64dup
NM_000383.4(AIRE):c.1095+7C>A rs2146382492
NM_000383.4(AIRE):c.1096-10T>C rs2146383145
NM_000383.4(AIRE):c.1096-12C>G
NM_000383.4(AIRE):c.1096-14C>T
NM_000383.4(AIRE):c.1096-20T>C
NM_000383.4(AIRE):c.1096-9G>T
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
NM_000383.4(AIRE):c.1111A>C (p.Arg371=) rs2146383235
NM_000383.4(AIRE):c.1119G>A (p.Ala373=) rs765586915
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
NM_000383.4(AIRE):c.1125G>A (p.Glu375=) rs1601969062
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
NM_000383.4(AIRE):c.1146G>C (p.Gly382=) rs2146383342
NM_000383.4(AIRE):c.1149A>G (p.Glu383=) rs779589936
NM_000383.4(AIRE):c.114C>A (p.Val38=) rs1192858868
NM_000383.4(AIRE):c.1152C>A (p.Pro384=) rs2146383355
NM_000383.4(AIRE):c.1152C>T (p.Pro384=)
NM_000383.4(AIRE):c.1153C>T (p.Leu385=) rs748929295
NM_000383.4(AIRE):c.1155A>G (p.Leu385=) rs1391807242
NM_000383.4(AIRE):c.1158C>A (p.Ala386=)
NM_000383.4(AIRE):c.1158C>G (p.Ala386=) rs199555518
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
NM_000383.4(AIRE):c.1179C>G (p.Val393=) rs752897977
NM_000383.4(AIRE):c.117C>G (p.Pro39=) rs1033297636
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
NM_000383.4(AIRE):c.1206T>C (p.Ser402=) rs1327799658
NM_000383.4(AIRE):c.1215G>T (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
NM_000383.4(AIRE):c.1224G>A (p.Gly408=)
NM_000383.4(AIRE):c.1225C>T (p.Leu409=) rs1264168197
NM_000383.4(AIRE):c.1227G>A (p.Leu409=) rs762289753
NM_000383.4(AIRE):c.1230C>T (p.Asp410=) rs2146383558
NM_000383.4(AIRE):c.1239C>T (p.Ala413=) rs2146383603
NM_000383.4(AIRE):c.123C>T (p.Asp41=)
NM_000383.4(AIRE):c.1242G>A (p.Leu414=)
NM_000383.4(AIRE):c.1245C>T (p.His415=)
NM_000383.4(AIRE):c.1248C>A (p.Pro416=) rs74162064
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
NM_000383.4(AIRE):c.1278+10G>C
NM_000383.4(AIRE):c.1278+12G>T
NM_000383.4(AIRE):c.1278+13T>C
NM_000383.4(AIRE):c.1278+16G>A
NM_000383.4(AIRE):c.1278+18G>A
NM_000383.4(AIRE):c.1278+7G>A rs564103678
NM_000383.4(AIRE):c.1278+7G>C
NM_000383.4(AIRE):c.1278+8G>A
NM_000383.4(AIRE):c.1279-12T>G
NM_000383.4(AIRE):c.1279-17G>A
NM_000383.4(AIRE):c.1279-20C>G
NM_000383.4(AIRE):c.1279-4A>G
NM_000383.4(AIRE):c.1279-5C>A
NM_000383.4(AIRE):c.1279-9C>T rs371186900
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
NM_000383.4(AIRE):c.1299T>C (p.Arg433=) rs780148497
NM_000383.4(AIRE):c.1299T>G (p.Arg433=)
NM_000383.4(AIRE):c.12C>T (p.Asp4=) rs768696010
NM_000383.4(AIRE):c.1305G>A (p.Gly435=) rs2146384547
NM_000383.4(AIRE):c.1317T>C (p.Asp439=) rs1474485684
NM_000383.4(AIRE):c.132+11C>T rs2146375260
NM_000383.4(AIRE):c.132+12G>A
NM_000383.4(AIRE):c.132+12G>C
NM_000383.4(AIRE):c.132+15C>A
NM_000383.4(AIRE):c.132+15C>G
NM_000383.4(AIRE):c.132+15C>T rs780730527
NM_000383.4(AIRE):c.132+16G>C rs1272044102
NM_000383.4(AIRE):c.132+8C>G rs1568926049
NM_000383.4(AIRE):c.132+8C>T
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
NM_000383.4(AIRE):c.1329G>T (p.Val443=) rs370017667
NM_000383.4(AIRE):c.133-14C>A
NM_000383.4(AIRE):c.133-15G>A
NM_000383.4(AIRE):c.133-16T>C
NM_000383.4(AIRE):c.133-18C>T
NM_000383.4(AIRE):c.133-20C>T
NM_000383.4(AIRE):c.133-4G>A
NM_000383.4(AIRE):c.133-6C>T
NM_000383.4(AIRE):c.133-8C>T rs753084849
NM_000383.4(AIRE):c.133-9C>T
NM_000383.4(AIRE):c.1330C>T (p.Leu444=) rs1221626097
NM_000383.4(AIRE):c.1332G>T (p.Leu444=)
NM_000383.4(AIRE):c.1335G>C (p.Arg445=)
NM_000383.4(AIRE):c.1341T>C (p.Thr447=) rs2040573330
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
NM_000383.4(AIRE):c.1353T>C (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1353T>G (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
NM_000383.4(AIRE):c.1362C>T (p.His454=) rs2146384697
NM_000383.4(AIRE):c.1368C>T (p.Arg456=) rs2146384725
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
NM_000383.4(AIRE):c.1389C>T (p.Thr463=) rs1464240052
NM_000383.4(AIRE):c.1391C>T (p.Ser464Phe) rs559428418
NM_000383.4(AIRE):c.1392C>G (p.Ser464=) rs759575621
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
NM_000383.4(AIRE):c.1400+10C>A rs372277949
NM_000383.4(AIRE):c.1400+11G>A
NM_000383.4(AIRE):c.1400+12T>C rs563869880
NM_000383.4(AIRE):c.1400+15T>A
NM_000383.4(AIRE):c.1400+16C>T
NM_000383.4(AIRE):c.1400+17G>T
NM_000383.4(AIRE):c.1400+19C>A
NM_000383.4(AIRE):c.1400+20G>A
NM_000383.4(AIRE):c.1400+9G>A rs2146384820
NM_000383.4(AIRE):c.1401-16T>G
NM_000383.4(AIRE):c.1401-18C>T
NM_000383.4(AIRE):c.1401-19C>A
NM_000383.4(AIRE):c.1401-4G>A rs2146385724
NM_000383.4(AIRE):c.1401-5T>C rs1206047355
NM_000383.4(AIRE):c.1401-8T>C
NM_000383.4(AIRE):c.1401-9C>G
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
NM_000383.4(AIRE):c.1417A>C (p.Arg473=) rs2146385780
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
NM_000383.4(AIRE):c.1440C>A (p.Thr480=) rs1402478750
NM_000383.4(AIRE):c.1443A>G (p.Pro481=) rs2146385828
NM_000383.4(AIRE):c.1452G>T (p.Val484=) rs2146385848
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
NM_000383.4(AIRE):c.1464G>A (p.Leu488=) rs2146385885
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
NM_000383.4(AIRE):c.1473C>T (p.Ser491=) rs761718813
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1491T>C (p.Pro497=) rs528761924
NM_000383.4(AIRE):c.1497T>C (p.Pro499=)
NM_000383.4(AIRE):c.1497T>G (p.Pro499=) rs926723773
NM_000383.4(AIRE):c.1503+10G>C
NM_000383.4(AIRE):c.1503+11C>T
NM_000383.4(AIRE):c.1503+13G>T
NM_000383.4(AIRE):c.1503+14G>A
NM_000383.4(AIRE):c.1503+16G>T
NM_000383.4(AIRE):c.1503+17C>T
NM_000383.4(AIRE):c.1503+18C>T
NM_000383.4(AIRE):c.1503+9C>A
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1512T>C (p.Thr504=) rs2040607807
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1521C>T (p.His507=) rs751968210
NM_000383.4(AIRE):c.1545C>T (p.Asp515=) rs2146388098
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=) rs1432714738
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1566+12C>A
NM_000383.4(AIRE):c.1566+12C>T
NM_000383.4(AIRE):c.1566+12_1566+13del
NM_000383.4(AIRE):c.1566+13C>T
NM_000383.4(AIRE):c.1566+14T>G
NM_000383.4(AIRE):c.1566+18C>T
NM_000383.4(AIRE):c.1566+7C>A rs2146388160
NM_000383.4(AIRE):c.1566+9T>A rs2146388175
NM_000383.4(AIRE):c.1567-10T>C
NM_000383.4(AIRE):c.1567-17_1567-15dup rs2146389783
NM_000383.4(AIRE):c.1575C>T (p.Phe525=) rs1399845704
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
NM_000383.4(AIRE):c.1587G>A (p.Leu529=) rs779142964
NM_000383.4(AIRE):c.159G>A (p.Glu53=) rs1413552217
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
NM_000383.4(AIRE):c.177C>T (p.Phe59=) rs2146375781
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
NM_000383.4(AIRE):c.240G>A (p.Val80=)
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
NM_000383.4(AIRE):c.249G>A (p.Lys83=) rs2146375874
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
NM_000383.4(AIRE):c.282G>A (p.Gln94=) rs776836665
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
NM_000383.4(AIRE):c.291G>A (p.Leu97=)
NM_000383.4(AIRE):c.294C>T (p.Asp98=) rs2146375955
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.303C>T (p.Pro101=)
NM_000383.4(AIRE):c.307+10G>T
NM_000383.4(AIRE):c.307+11G>A
NM_000383.4(AIRE):c.307+17T>C
NM_000383.4(AIRE):c.307+18C>T rs562210054
NM_000383.4(AIRE):c.307+9_307+10delinsAT rs2146375974
NM_000383.4(AIRE):c.308-11C>G
NM_000383.4(AIRE):c.308-14_308-9dup
NM_000383.4(AIRE):c.308-7G>T
NM_000383.4(AIRE):c.312G>A (p.Val104=)
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
NM_000383.4(AIRE):c.333G>A (p.Lys111=)
NM_000383.4(AIRE):c.336G>A (p.Gly112=)
NM_000383.4(AIRE):c.336G>T (p.Gly112=)
NM_000383.4(AIRE):c.339G>A (p.Arg113=) rs2040488791
NM_000383.4(AIRE):c.348G>C (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
NM_000383.4(AIRE):c.354C>A (p.Val118=) rs528667089
NM_000383.4(AIRE):c.354C>T (p.Val118=) rs528667089
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
NM_000383.4(AIRE):c.375A>G (p.Pro125=) rs2146376299
NM_000383.4(AIRE):c.378C>T (p.Pro126=)
NM_000383.4(AIRE):c.384C>T (p.Leu128=) rs2146376310
NM_000383.4(AIRE):c.387C>T (p.Pro129=) rs762735482
NM_000383.4(AIRE):c.390C>A (p.Thr130=) rs2040489548
NM_000383.4(AIRE):c.390C>T (p.Thr130=)
NM_000383.4(AIRE):c.402C>T (p.Ala134=) rs2146376334
NM_000383.4(AIRE):c.415C>G (p.Arg139Gly)
NM_000383.4(AIRE):c.420T>C (p.Ala140=) rs2146376372
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
NM_000383.4(AIRE):c.42C>T (p.His14=) rs2146375067
NM_000383.4(AIRE):c.438G>A (p.Leu146=) rs2146376401
NM_000383.4(AIRE):c.444A>C (p.Pro148=) rs2146376404
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
NM_000383.4(AIRE):c.463+10C>T
NM_000383.4(AIRE):c.463+12G>T
NM_000383.4(AIRE):c.463+13C>A
NM_000383.4(AIRE):c.463+7del
NM_000383.4(AIRE):c.464-16C>T
NM_000383.4(AIRE):c.464-17C>T
NM_000383.4(AIRE):c.464-20C>T
NM_000383.4(AIRE):c.464-6A>C
NM_000383.4(AIRE):c.464-7C>A
NM_000383.4(AIRE):c.464-7C>T rs768310786
NM_000383.4(AIRE):c.464-8C>G rs1254160382
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
NM_000383.4(AIRE):c.483G>A (p.Lys161=) rs2040495155
NM_000383.4(AIRE):c.48G>C (p.Thr16=) rs2146375080
NM_000383.4(AIRE):c.519G>A (p.Gln173=) rs2146376946
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
NM_000383.4(AIRE):c.538+10G>T
NM_000383.4(AIRE):c.538+14A>C
NM_000383.4(AIRE):c.538+9G>T
NM_000383.4(AIRE):c.539-14G>A
NM_000383.4(AIRE):c.539-15T>C
NM_000383.4(AIRE):c.539-17G>A
NM_000383.4(AIRE):c.539-18G>A
NM_000383.4(AIRE):c.539-20A>G
NM_000383.4(AIRE):c.539-6T>G
NM_000383.4(AIRE):c.539-8T>C
NM_000383.4(AIRE):c.539-9C>A
NM_000383.4(AIRE):c.539-9C>T rs757848836
NM_000383.4(AIRE):c.564C>A (p.Val188=) rs201650973
NM_000383.4(AIRE):c.600G>C (p.Pro200=)
NM_000383.4(AIRE):c.603A>G (p.Gly201=)
NM_000383.4(AIRE):c.615C>G (p.Ala205=) rs143784684
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
NM_000383.4(AIRE):c.63C>A (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.63C>G (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.645T>C (p.Phe215=)
NM_000383.4(AIRE):c.652+12G>A
NM_000383.4(AIRE):c.652+18G>A
NM_000383.4(AIRE):c.652+9T>C rs2146377909
NM_000383.4(AIRE):c.653-10C>T rs760848364
NM_000383.4(AIRE):c.653-12A>G
NM_000383.4(AIRE):c.653-13C>T
NM_000383.4(AIRE):c.653-15G>T
NM_000383.4(AIRE):c.653-20C>T
NM_000383.4(AIRE):c.653-8C>T
NM_000383.4(AIRE):c.654C>A (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.654C>T (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.657C>A (p.Gly219=)
NM_000383.4(AIRE):c.657C>T (p.Gly219=) rs2146379141
NM_000383.4(AIRE):c.660C>T (p.Ser220=)
NM_000383.4(AIRE):c.66G>T (p.Val22=)
NM_000383.4(AIRE):c.672C>T (p.Ile224=)
NM_000383.4(AIRE):c.681C>G (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
NM_000383.4(AIRE):c.693C>T (p.Tyr231=) rs1601966572
NM_000383.4(AIRE):c.696T>C (p.Thr232=)
NM_000383.4(AIRE):c.699C>T (p.Pro233=) rs2146379208
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.717C>G (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
NM_000383.4(AIRE):c.741C>A (p.Arg247=) rs1417017303
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
NM_000383.4(AIRE):c.756G>T (p.Pro252=) rs765738882
NM_000383.4(AIRE):c.759G>A (p.Lys253=) rs2146379321
NM_000383.4(AIRE):c.774C>T (p.Ala258=) rs2040517869
NM_000383.4(AIRE):c.783C>A (p.Ala261=)
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000383.4(AIRE):c.789C>G (p.Gly263=)
NM_000383.4(AIRE):c.78C>T (p.Phe26=) rs1443107040
NM_000383.4(AIRE):c.795C>T (p.Ala265=) rs201171818
NM_000383.4(AIRE):c.798+10T>C
NM_000383.4(AIRE):c.798+12_798+21del rs1456310412
NM_000383.4(AIRE):c.798+14C>A
NM_000383.4(AIRE):c.798+14C>T
NM_000383.4(AIRE):c.798+17C>G
NM_000383.4(AIRE):c.798+17C>T
NM_000383.4(AIRE):c.798+19C>G
NM_000383.4(AIRE):c.798+8C>T
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.799-16C>T
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.799-6T>C rs2146379591
NM_000383.4(AIRE):c.799-8C>T
NM_000383.4(AIRE):c.804A>G (p.Gly268=) rs2146379604
NM_000383.4(AIRE):c.817C>T (p.Leu273=) rs372819974
NM_000383.4(AIRE):c.819G>T (p.Leu273=) rs756188438
NM_000383.4(AIRE):c.822C>T (p.Gly274=)
NM_000383.4(AIRE):c.828G>A (p.Gln276=) rs2146379663
NM_000383.4(AIRE):c.834C>T (p.Ser278=) rs1800520
NM_000383.4(AIRE):c.837T>C (p.Val279=)
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
NM_000383.4(AIRE):c.858C>A (p.Pro286=) rs1314044062
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
NM_000383.4(AIRE):c.876C>T (p.His292=)
NM_000383.4(AIRE):c.879+11A>G rs1601966929
NM_000383.4(AIRE):c.879+14C>T
NM_000383.4(AIRE):c.879+15C>T
NM_000383.4(AIRE):c.879+17C>T
NM_000383.4(AIRE):c.879+20G>A
NM_000383.4(AIRE):c.879+7C>T
NM_000383.4(AIRE):c.879+7_879+8insA
NM_000383.4(AIRE):c.879+8C>A
NM_000383.4(AIRE):c.879+8C>T rs760555624
NM_000383.4(AIRE):c.87G>A (p.Leu29=) rs2146375160
NM_000383.4(AIRE):c.880-11G>A
NM_000383.4(AIRE):c.880-16C>T
NM_000383.4(AIRE):c.880-19C>A
NM_000383.4(AIRE):c.880-19C>T rs768876713
NM_000383.4(AIRE):c.880-20G>A
NM_000383.4(AIRE):c.880-6T>C
NM_000383.4(AIRE):c.880-7G>T rs141955483
NM_000383.4(AIRE):c.880-9C>T
NM_000383.4(AIRE):c.882G>A (p.Lys294=) rs2146380881
NM_000383.4(AIRE):c.903G>C (p.Val301=) rs1368560349
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
NM_000383.4(AIRE):c.930C>T (p.Cys310=) rs2146380972
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
NM_000383.4(AIRE):c.96G>C (p.Leu32=)
NM_000383.4(AIRE):c.978G>A (p.Pro326=) rs972756453
NM_000383.4(AIRE):c.981C>T (p.Leu327=)
NM_000383.4(AIRE):c.984G>A (p.Arg328=) rs2146381050
NM_000383.4(AIRE):c.987G>A (p.Glu329=) rs2146381060
NM_000383.4(AIRE):c.995+11_995+18del
NM_000383.4(AIRE):c.995+12C>A
NM_000383.4(AIRE):c.995+12C>T
NM_000383.4(AIRE):c.995+15C>T
NM_000383.4(AIRE):c.996-15T>C
NM_000383.4(AIRE):c.996-20_996-17del
NM_000383.4(AIRE):c.996-4G>A rs1057104935
NM_000383.4(AIRE):c.996-6G>A rs781400305
NM_000383.4(AIRE):c.996-7C>A rs568895777
NM_000383.4(AIRE):c.996-9C>T
NM_000383.4(AIRE):c.999G>A (p.Gly333=)
NM_000383.4(AIRE):c.9G>A (p.Thr3=)
NM_000383.4(AIRE):c.9G>C (p.Thr3=)
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_001370259.2(MEN1):c.1008A>G (p.Glu336=)
NM_001370259.2(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=)
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=)
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=) rs878855184
NM_001370259.2(MEN1):c.102G>A (p.Leu34=) rs1255708093
NM_001370259.2(MEN1):c.102G>C (p.Leu34=) rs1255708093
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=) rs760183888
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=)
NM_001370259.2(MEN1):c.1049+10C>A
NM_001370259.2(MEN1):c.1049+11C>T
NM_001370259.2(MEN1):c.1049+12C>A
NM_001370259.2(MEN1):c.1049+13C>A
NM_001370259.2(MEN1):c.1049+15A>G
NM_001370259.2(MEN1):c.1049+17T>G
NM_001370259.2(MEN1):c.1049+18A>G
NM_001370259.2(MEN1):c.1049+8T>C rs2136117570
NM_001370259.2(MEN1):c.1049+9C>A rs200517349
NM_001370259.2(MEN1):c.1049+9C>G rs200517349
NM_001370259.2(MEN1):c.1050-10G>A
NM_001370259.2(MEN1):c.1050-10G>C
NM_001370259.2(MEN1):c.1050-15C>G
NM_001370259.2(MEN1):c.1050-18A>C
NM_001370259.2(MEN1):c.1050-19G>A
NM_001370259.2(MEN1):c.1050-19G>T
NM_001370259.2(MEN1):c.1050-20A>G rs2136111796
NM_001370259.2(MEN1):c.1050-7C>T rs1000294408
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=) rs1565642741
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=) rs1592640846
NM_001370259.2(MEN1):c.105G>A (p.Val35=)
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=) rs104894265
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=) rs1592640719
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=) rs1592640719
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=) rs1168237114
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=) rs2136110455
NM_001370259.2(MEN1):c.108C>G (p.Leu36=) rs1592660352
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=) rs1592640464
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=)
NM_001370259.2(MEN1):c.1113C>A (p.Val371=)
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=) rs535417698
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=) rs535417698
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser) rs755168633
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=) rs867481093
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=) rs867481093
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=) rs1555164674
NM_001370259.2(MEN1):c.1134G>A (p.Glu378=)
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=) rs2136109300
NM_001370259.2(MEN1):c.1140C>T (p.Ala380=)
NM_001370259.2(MEN1):c.1144T>C (p.Leu382=) rs2136109118
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=) rs2136109092
NM_001370259.2(MEN1):c.1149G>A (p.Leu383=) rs1555164667
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=) rs201091135
NM_001370259.2(MEN1):c.1158C>A (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1165C>A (p.Arg389=)
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=) rs1194388602
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=) rs1592639850
NM_001370259.2(MEN1):c.1182C>T (p.Ser394=) rs1396452284
NM_001370259.2(MEN1):c.1185+10dup rs2136107816
NM_001370259.2(MEN1):c.1185+12G>C rs373609932
NM_001370259.2(MEN1):c.1185+13A>G
NM_001370259.2(MEN1):c.1185+15C>G rs2136107680
NM_001370259.2(MEN1):c.1185+18C>A rs780329058
NM_001370259.2(MEN1):c.1185+7G>A
NM_001370259.2(MEN1):c.1185+8G>T
NM_001370259.2(MEN1):c.1186-10C>T rs762303621
NM_001370259.2(MEN1):c.1186-13C>T rs1181170442
NM_001370259.2(MEN1):c.1186-14T>C
NM_001370259.2(MEN1):c.1186-15T>A rs1482248002
NM_001370259.2(MEN1):c.1186-16C>T
NM_001370259.2(MEN1):c.1186-5T>C rs1941629779
NM_001370259.2(MEN1):c.1186-7C>G rs587780842
NM_001370259.2(MEN1):c.1186-8del rs1555164452
NM_001370259.2(MEN1):c.1186-9C>T rs1555164455
NM_001370259.2(MEN1):c.1191C>A (p.Thr397=)
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=) rs1166154585
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=) rs878855187
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=) rs770037856
NM_001370259.2(MEN1):c.120G>T (p.Val40=) rs1306316325
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=)
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=)
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=)
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=) rs751481164
NM_001370259.2(MEN1):c.1257C>G (p.Gly419=)
NM_001370259.2(MEN1):c.126C>T (p.Gly42=) rs2136193097
NM_001370259.2(MEN1):c.1287G>C (p.Thr429=)
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=) rs376598079
NM_001370259.2(MEN1):c.1290T>G (p.Pro430=)
NM_001370259.2(MEN1):c.1293G>A (p.Val431=)
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
NM_001370259.2(MEN1):c.1311C>T (p.Ala437=)
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.1323G>A (p.Val441=) rs1941607604
NM_001370259.2(MEN1):c.1329C>T (p.Ser443=) rs2136100094
NM_001370259.2(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_001370259.2(MEN1):c.1332A>G (p.Leu444=)
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=) rs1325598637
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=) rs371339952
NM_001370259.2(MEN1):c.1350+16A>C
NM_001370259.2(MEN1):c.1350+18A>G rs1190733461
NM_001370259.2(MEN1):c.1350+7G>A rs2136099113
NM_001370259.2(MEN1):c.1351-10A>G rs757569943
NM_001370259.2(MEN1):c.1351-10del
NM_001370259.2(MEN1):c.1351-11C>G
NM_001370259.2(MEN1):c.1351-12C>T rs2136094913
NM_001370259.2(MEN1):c.1351-13C>T rs2136094943
NM_001370259.2(MEN1):c.1351-15T>G rs2136095005
NM_001370259.2(MEN1):c.1351-16C>T rs766052368
NM_001370259.2(MEN1):c.1351-18C>G
NM_001370259.2(MEN1):c.1351-24_1351-14del rs753219137
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3] rs753219137
NM_001370259.2(MEN1):c.1351-6G>A rs1555164004
NM_001370259.2(MEN1):c.1351-8T>C rs751932519
NM_001370259.2(MEN1):c.1351-8T>G rs751932519
NM_001370259.2(MEN1):c.1353G>A (p.Val451=)
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=)
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=) rs1180957953
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
NM_001370259.2(MEN1):c.1374G>A (p.Val458=) rs771297499
NM_001370259.2(MEN1):c.1374G>C (p.Val458=) rs771297499
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=) rs2136093597
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=) rs104894267
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=) rs2136093385
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=) rs754445482
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=) rs748820252
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=) rs990566024
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=) rs1060503795
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=) rs2136091112
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=) rs1555163730
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=) rs1555163730
NM_001370259.2(MEN1):c.142C>T (p.Leu48=) rs2136192593
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=) rs200280309
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=) rs1354865958
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=) rs864622641
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=) rs1254459338
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=)
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=) rs1592632826
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=) rs1555163642
NM_001370259.2(MEN1):c.1476C>G (p.Pro492=) rs2136088299
NM_001370259.2(MEN1):c.1476C>T (p.Pro492=) rs2136088299
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=) rs546721780
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=) rs2136087952
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=) rs2136087753
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=) rs1037335560
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=) rs2136087489
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=)
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=)
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=) rs2136087305
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
NM_001370259.2(MEN1):c.150C>T (p.Val50=) rs2136192168
NM_001370259.2(MEN1):c.1515C>A (p.Gly505=)
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=) rs2136086851
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=) rs749265222
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=) rs1407833502
NM_001370259.2(MEN1):c.1521C>T (p.Gly507=)
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=) rs1941532417
NM_001370259.2(MEN1):c.1533G>A (p.Val511=)
NM_001370259.2(MEN1):c.1536A>C (p.Ser512=)
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=) rs2136085950
NM_001370259.2(MEN1):c.153C>T (p.Asn51=) rs1555166669
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser) rs150202288
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=) rs1592631827
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=) rs1555163491
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=) rs2136084986
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=)
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=) rs969035156
NM_001370259.2(MEN1):c.1566C>T (p.Val522=)
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=) rs1592631415
NM_001370259.2(MEN1):c.156C>A (p.Arg52=) rs1592659960
NM_001370259.2(MEN1):c.156C>T (p.Arg52=) rs1592659960
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=) rs767655504
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=) rs1592631208
NM_001370259.2(MEN1):c.1584C>T (p.Gly528=)
NM_001370259.2(MEN1):c.1599C>T (p.Ser533=)
NM_001370259.2(MEN1):c.159C>A (p.Val53=) rs1411927545
NM_001370259.2(MEN1):c.159C>T (p.Val53=) rs1411927545
NM_001370259.2(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_001370259.2(MEN1):c.15C>T (p.Ala5=)
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1602G>T (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1605T>C (p.Ala535=) rs2136083318
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu) rs1057521847
NM_001370259.2(MEN1):c.1617A>T (p.Ala539=)
NM_001370259.2(MEN1):c.1620C>T (p.Pro540=) rs928470958
NM_001370259.2(MEN1):c.1620_1621delinsAG (p.Thr541Ala) rs2136082604
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=) rs2136082421
NM_001370259.2(MEN1):c.162C>T (p.Ile54=) rs1555166662
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=) rs1555163295
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=) rs2136081746
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=) rs1592630324
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=) rs1299138529
NM_001370259.2(MEN1):c.165T>A (p.Pro55=) rs1060503790
NM_001370259.2(MEN1):c.165T>C (p.Pro55=) rs1060503790
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=) rs2136080910
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=) rs2136080688
NM_001370259.2(MEN1):c.1686G>A (p.Lys562=) rs2136080412
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=) rs1178628764
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=) rs1251646520
NM_001370259.2(MEN1):c.1698G>A (p.Val566=) rs2136080002
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=) rs1347492310
NM_001370259.2(MEN1):c.1716G>A (p.Ser572=)
NM_001370259.2(MEN1):c.1719C>T (p.Ser573=)
NM_001370259.2(MEN1):c.171C>T (p.Asn57=) rs1171829753
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=) rs762744342
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=) rs765105348
NM_001370259.2(MEN1):c.1755G>A (p.Val585=) rs2136078442
NM_001370259.2(MEN1):c.1770G>A (p.Gln590=)
NM_001370259.2(MEN1):c.1782C>T (p.Thr594=)
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=) rs2136077605
NM_001370259.2(MEN1):c.1797T>C (p.Thr599=) rs2136077544
NM_001370259.2(MEN1):c.1798C>T (p.Leu600=) rs2136077489
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=) rs1060503794
NM_001370259.2(MEN1):c.180G>A (p.Glu60=) rs2136190736
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=) rs2136076868
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val) rs1186858249
NM_001370259.2(MEN1):c.1830C>G (p.Leu610=)
NM_001370259.2(MEN1):c.183C>A (p.Leu61=) rs1555166622
NM_001370259.2(MEN1):c.183C>T (p.Leu61=)
NM_001370259.2(MEN1):c.189C>T (p.Phe63=) rs137880635
NM_001370259.2(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_001370259.2(MEN1):c.195C>T (p.Pro65=) rs1438097332
NM_001370259.2(MEN1):c.198C>T (p.Ser66=) rs2136189969
NM_001370259.2(MEN1):c.201C>T (p.Pro67=) rs1060503791
NM_001370259.2(MEN1):c.204C>A (p.Ala68=) rs2136189673
NM_001370259.2(MEN1):c.204C>T (p.Ala68=) rs2136189673
NM_001370259.2(MEN1):c.207C>A (p.Pro69=) rs2136189522
NM_001370259.2(MEN1):c.210C>T (p.Asp70=)
NM_001370259.2(MEN1):c.213G>A (p.Pro71=) rs778154183
NM_001370259.2(MEN1):c.213G>T (p.Pro71=) rs778154183
NM_001370259.2(MEN1):c.216T>G (p.Pro72=) rs1592659467
NM_001370259.2(MEN1):c.219C>A (p.Gly73=)
NM_001370259.2(MEN1):c.21G>A (p.Gln7=) rs1422628649
NM_001370259.2(MEN1):c.225C>A (p.Leu75=) rs1333791405
NM_001370259.2(MEN1):c.225C>T (p.Leu75=) rs1333791405
NM_001370259.2(MEN1):c.228C>G (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.228C>T (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.234T>C (p.Phe78=) rs2136188387
NM_001370259.2(MEN1):c.237C>G (p.Pro79=) rs1592659200
NM_001370259.2(MEN1):c.237C>T (p.Pro79=) rs1592659200
NM_001370259.2(MEN1):c.240G>T (p.Val80=) rs1555166545
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
NM_001370259.2(MEN1):c.246C>T (p.Asp82=) rs1238113583
NM_001370259.2(MEN1):c.24G>A (p.Lys8=) rs2136196440
NM_001370259.2(MEN1):c.252T>C (p.Ser84=) rs1592658989
NM_001370259.2(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_001370259.2(MEN1):c.267C>T (p.Leu89=)
NM_001370259.2(MEN1):c.270T>C (p.Tyr90=)
NM_001370259.2(MEN1):c.27G>A (p.Thr9=) rs1190267704
NM_001370259.2(MEN1):c.282C>T (p.Thr94=) rs760442763
NM_001370259.2(MEN1):c.288G>A (p.Gln96=) rs2136185997
NM_001370259.2(MEN1):c.28C>T (p.Leu10=) rs2136196333
NM_001370259.2(MEN1):c.294A>T (p.Arg98=) rs2136185660
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
NM_001370259.2(MEN1):c.300C>T (p.Ala100=) rs773136972
NM_001370259.2(MEN1):c.303C>G (p.Val101=) rs1463347315
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)
NM_001370259.2(MEN1):c.307C>T (p.Leu103=) rs1313314117
NM_001370259.2(MEN1):c.30G>C (p.Leu10=)
NM_001370259.2(MEN1):c.312C>T (p.Ser104=) rs1592658525
NM_001370259.2(MEN1):c.321T>C (p.Pro107=) rs2136184097
NM_001370259.2(MEN1):c.330G>C (p.Gly110=) rs1060503792
NM_001370259.2(MEN1):c.333T>C (p.Gly111=) rs1555166432
NM_001370259.2(MEN1):c.336C>T (p.Val112=) rs1200092213
NM_001370259.2(MEN1):c.33C>T (p.Phe11=)
NM_001370259.2(MEN1):c.342C>T (p.Ser114=) rs2136182809
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
NM_001370259.2(MEN1):c.360G>A (p.Lys120=) rs1477714779
NM_001370259.2(MEN1):c.366C>T (p.Ser122=) rs1592658043
NM_001370259.2(MEN1):c.369T>C (p.Asp123=) rs1555166369
NM_001370259.2(MEN1):c.36G>A (p.Pro12=) rs775721366
NM_001370259.2(MEN1):c.36G>T (p.Pro12=) rs775721366
NM_001370259.2(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=) rs1592657892
NM_001370259.2(MEN1):c.409C>A (p.Arg137=) rs1208267598
NM_001370259.2(MEN1):c.411G>C (p.Arg137=) rs371437505
NM_001370259.2(MEN1):c.411G>T (p.Arg137=) rs371437505
NM_001370259.2(MEN1):c.417C>T (p.His139=)
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
NM_001370259.2(MEN1):c.429C>A (p.Leu143=)
NM_001370259.2(MEN1):c.429C>G (p.Leu143=)
NM_001370259.2(MEN1):c.42C>G (p.Arg14=) rs765446407
NM_001370259.2(MEN1):c.42C>T (p.Arg14=)
NM_001370259.2(MEN1):c.441C>T (p.Ile147=) rs878855193
NM_001370259.2(MEN1):c.445+10C>T rs754044830
NM_001370259.2(MEN1):c.445+7G>T rs2136177428
NM_001370259.2(MEN1):c.445+9C>G rs2136177395
NM_001370259.2(MEN1):c.446-10C>A rs1442401628
NM_001370259.2(MEN1):c.446-10C>T rs1442401628
NM_001370259.2(MEN1):c.446-12C>G
NM_001370259.2(MEN1):c.446-12C>T rs369411199
NM_001370259.2(MEN1):c.446-13C>T
NM_001370259.2(MEN1):c.446-17A>G
NM_001370259.2(MEN1):c.446-18T>C rs2136160575
NM_001370259.2(MEN1):c.446-5C>A
NM_001370259.2(MEN1):c.446-7T>C rs2136160148
NM_001370259.2(MEN1):c.446-9C>A rs1371109251
NM_001370259.2(MEN1):c.446-9C>G rs1371109251
NM_001370259.2(MEN1):c.446-9C>T
NM_001370259.2(MEN1):c.447C>T (p.Gly149=)
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
NM_001370259.2(MEN1):c.454T>C (p.Leu152=)
NM_001370259.2(MEN1):c.459C>T (p.Asp153=)
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
NM_001370259.2(MEN1):c.480T>C (p.Ala160=) rs2136157794
NM_001370259.2(MEN1):c.483G>A (p.Val161=)
NM_001370259.2(MEN1):c.489G>A (p.Gly163=) rs2136157212
NM_001370259.2(MEN1):c.498G>A (p.Gln166=)
NM_001370259.2(MEN1):c.502C>T (p.Leu168=) rs1555165846
NM_001370259.2(MEN1):c.504G>A (p.Leu168=) rs1941867763
NM_001370259.2(MEN1):c.507T>G (p.Gly169=)
NM_001370259.2(MEN1):c.510C>T (p.Leu170=)
NM_001370259.2(MEN1):c.516T>C (p.Asp172=) rs912509147
NM_001370259.2(MEN1):c.519C>G (p.Val173=)
NM_001370259.2(MEN1):c.51C>T (p.Asp17=) rs2136195633
NM_001370259.2(MEN1):c.528C>A (p.Ala176=) rs1311592330
NM_001370259.2(MEN1):c.528C>G (p.Ala176=) rs1311592330
NM_001370259.2(MEN1):c.531G>C (p.Leu177=)
NM_001370259.2(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_001370259.2(MEN1):c.555G>T (p.Val185=) rs1178007625
NM_001370259.2(MEN1):c.561G>A (p.Gly187=)
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
NM_001370259.2(MEN1):c.582T>A (p.Ala194=) rs1592650942
NM_001370259.2(MEN1):c.582T>G (p.Ala194=) rs1592650942
NM_001370259.2(MEN1):c.585G>A (p.Glu195=) rs864622177
NM_001370259.2(MEN1):c.588C>T (p.Val196=) rs1592650906
NM_001370259.2(MEN1):c.591C>T (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.603G>A (p.Lys201=)
NM_001370259.2(MEN1):c.606C>A (p.Gly202=)
NM_001370259.2(MEN1):c.60G>A (p.Val20=)
NM_001370259.2(MEN1):c.60G>C (p.Val20=) rs776432516
NM_001370259.2(MEN1):c.615C>T (p.Asp205=) rs1941854403
NM_001370259.2(MEN1):c.618C>T (p.Arg206=) rs1555165717
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.627G>A (p.Gln209=) rs1565647751
NM_001370259.2(MEN1):c.630A>C (p.Thr210=) rs1592650685
NM_001370259.2(MEN1):c.630A>G (p.Thr210=)
NM_001370259.2(MEN1):c.63C>T (p.Arg21=) rs1018289242
NM_001370259.2(MEN1):c.645G>A (p.Val215=) rs1347044526
NM_001370259.2(MEN1):c.64C>T (p.Leu22=) rs1592660695
NM_001370259.2(MEN1):c.652C>A (p.Arg218=) rs794728620
NM_001370259.2(MEN1):c.654+10C>A rs921850475
NM_001370259.2(MEN1):c.654+10C>T rs921850475
NM_001370259.2(MEN1):c.654+11C>T rs1941846380
NM_001370259.2(MEN1):c.654+12T>A
NM_001370259.2(MEN1):c.654+13C>A
NM_001370259.2(MEN1):c.654+14C>T
NM_001370259.2(MEN1):c.654+15C>G rs1262314762
NM_001370259.2(MEN1):c.654+15C>T
NM_001370259.2(MEN1):c.654+16C>A rs2136147604
NM_001370259.2(MEN1):c.654+17C>A
NM_001370259.2(MEN1):c.654+17C>G rs764070489
NM_001370259.2(MEN1):c.654+17C>T
NM_001370259.2(MEN1):c.654+18C>A
NM_001370259.2(MEN1):c.654+18C>G rs180737290
NM_001370259.2(MEN1):c.654+9C>A rs202134234
NM_001370259.2(MEN1):c.654+9C>G rs202134234
NM_001370259.2(MEN1):c.655-10C>T rs2136144068
NM_001370259.2(MEN1):c.655-11C>G rs781234614
NM_001370259.2(MEN1):c.655-11C>T rs781234614
NM_001370259.2(MEN1):c.655-12T>C rs2136144144
NM_001370259.2(MEN1):c.655-12dup rs2136144164
NM_001370259.2(MEN1):c.655-16C>G
NM_001370259.2(MEN1):c.655-17T>A
NM_001370259.2(MEN1):c.655-19G>A
NM_001370259.2(MEN1):c.655-19_655-17del rs2136144272
NM_001370259.2(MEN1):c.655-5C>T rs752563214
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-7C>T rs771297371
NM_001370259.2(MEN1):c.655-7_655-4dup rs2136143779
NM_001370259.2(MEN1):c.655-8C>T rs2136143989
NM_001370259.2(MEN1):c.655-9C>T
NM_001370259.2(MEN1):c.657C>T (p.Ser219=) rs2059889716
NM_001370259.2(MEN1):c.663G>C (p.Leu221=) rs1466764986
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=) rs1555165597
NM_001370259.2(MEN1):c.667C>T (p.Leu223=) rs1592649487
NM_001370259.2(MEN1):c.669G>A (p.Leu223=) rs2136143050
NM_001370259.2(MEN1):c.686G>A (p.Arg229His) rs878855197
NM_001370259.2(MEN1):c.690T>C (p.Cys230=) rs2136142487
NM_001370259.2(MEN1):c.693C>T (p.Asp231=)
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
NM_001370259.2(MEN1):c.741T>C (p.Ile247=) rs1592648877
NM_001370259.2(MEN1):c.744C>T (p.Asp248=) rs2136140889
NM_001370259.2(MEN1):c.750C>T (p.His250=)
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
NM_001370259.2(MEN1):c.759G>C (p.Ser253=)
NM_001370259.2(MEN1):c.759G>T (p.Ser253=) rs201829546
NM_001370259.2(MEN1):c.75C>A (p.Ala25=)
NM_001370259.2(MEN1):c.75C>G (p.Ala25=)
NM_001370259.2(MEN1):c.75C>T (p.Ala25=) rs1399788808
NM_001370259.2(MEN1):c.769C>T (p.Leu257=)
NM_001370259.2(MEN1):c.777G>A (p.Leu259=) rs2136139885
NM_001370259.2(MEN1):c.783+10G>C rs2136139524
NM_001370259.2(MEN1):c.783+16A>G
NM_001370259.2(MEN1):c.783+3G>A
NM_001370259.2(MEN1):c.783+8C>A rs2136139552
NM_001370259.2(MEN1):c.784-16C>G rs754257177
NM_001370259.2(MEN1):c.784-18C>G
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001370259.2(MEN1):c.784-4C>T
NM_001370259.2(MEN1):c.784-7C>A
NM_001370259.2(MEN1):c.784-7C>G rs1313431495
NM_001370259.2(MEN1):c.784-8G>C
NM_001370259.2(MEN1):c.784-8G>T rs766553550
NM_001370259.2(MEN1):c.784-9G>C rs794728625
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
NM_001370259.2(MEN1):c.792C>G (p.Leu264=) rs2136134213
NM_001370259.2(MEN1):c.792C>T (p.Leu264=) rs2136134213
NM_001370259.2(MEN1):c.79C>T (p.Leu27=) rs1006536599
NM_001370259.2(MEN1):c.807C>T (p.Asp269=) rs2136133470
NM_001370259.2(MEN1):c.819G>T (p.Leu273=) rs748369241
NM_001370259.2(MEN1):c.81G>C (p.Leu27=) rs1592660553
NM_001370259.2(MEN1):c.81G>T (p.Leu27=)
NM_001370259.2(MEN1):c.824+10G>A
NM_001370259.2(MEN1):c.824+12del rs2136132270
NM_001370259.2(MEN1):c.824+16T>A
NM_001370259.2(MEN1):c.824+17G>C rs1271023864
NM_001370259.2(MEN1):c.824+18G>A
NM_001370259.2(MEN1):c.824+8G>T rs2136132354
NM_001370259.2(MEN1):c.824+9A>C
NM_001370259.2(MEN1):c.824+9A>G rs774166628
NM_001370259.2(MEN1):c.825-10C>G rs999121619
NM_001370259.2(MEN1):c.825-10C>T
NM_001370259.2(MEN1):c.825-13G>A
NM_001370259.2(MEN1):c.825-13_825-11del
NM_001370259.2(MEN1):c.825-4C>A rs2136130374
NM_001370259.2(MEN1):c.825-8T>C rs1555165330
NM_001370259.2(MEN1):c.825-9C>A rs1460138191
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
NM_001370259.2(MEN1):c.837C>T (p.Ala279=) rs762092675
NM_001370259.2(MEN1):c.843G>A (p.Gly281=)
NM_001370259.2(MEN1):c.846C>T (p.Asn282=) rs2136129516
NM_001370259.2(MEN1):c.84C>T (p.Gly28=) rs2136194730
NM_001370259.2(MEN1):c.852A>G (p.Ala284=) rs2136129359
NM_001370259.2(MEN1):c.85C>A (p.Arg29=) rs794728615
NM_001370259.2(MEN1):c.864G>A (p.Glu288=) rs769748450
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
NM_001370259.2(MEN1):c.876C>G (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.876C>T (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_001370259.2(MEN1):c.882C>T (p.Gly294=)
NM_001370259.2(MEN1):c.883C>A (p.Arg295=)
NM_001370259.2(MEN1):c.885G>A (p.Arg295=)
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
NM_001370259.2(MEN1):c.897C>T (p.Leu299=) rs1409781409
NM_001370259.2(MEN1):c.900C>T (p.Thr300=) rs1592646297
NM_001370259.2(MEN1):c.903C>G (p.Leu301=) rs1592646283
NM_001370259.2(MEN1):c.903C>T (p.Leu301=) rs1592646283
NM_001370259.2(MEN1):c.906C>T (p.Tyr302=) rs1592646265
NM_001370259.2(MEN1):c.908A>G (p.His303Arg) rs373805140
NM_001370259.2(MEN1):c.909C>T (p.His303=) rs878855200
NM_001370259.2(MEN1):c.912+13A>G rs754283643
NM_001370259.2(MEN1):c.912+18G>A
NM_001370259.2(MEN1):c.912+19G>A rs780657282
NM_001370259.2(MEN1):c.912+20G>T
NM_001370259.2(MEN1):c.913-10C>T rs2136122123
NM_001370259.2(MEN1):c.913-11C>T rs2136122142
NM_001370259.2(MEN1):c.913-12A>C
NM_001370259.2(MEN1):c.913-13C>T rs1309344851
NM_001370259.2(MEN1):c.913-15C>T rs1941734915
NM_001370259.2(MEN1):c.913-15del rs2136122252
NM_001370259.2(MEN1):c.913-16C>T
NM_001370259.2(MEN1):c.913-4C>T rs770413697
NM_001370259.2(MEN1):c.913-7C>T rs911501970
NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)
NM_001370259.2(MEN1):c.921C>G (p.Ala307=) rs1060503788
NM_001370259.2(MEN1):c.921C>T (p.Ala307=) rs1060503788
NM_001370259.2(MEN1):c.927C>G (p.Ala309=)
NM_001370259.2(MEN1):c.933C>A (p.Thr311=) rs1592643965
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=) rs386134260
NM_001370259.2(MEN1):c.939T>C (p.Tyr313=)
NM_001370259.2(MEN1):c.942G>A (p.Arg314=)
NM_001370259.2(MEN1):c.954C>A (p.Ile318=) rs2136120737
NM_001370259.2(MEN1):c.954C>T (p.Ile318=) rs2136120737
NM_001370259.2(MEN1):c.960C>G (p.Pro320=) rs1592643701
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=) rs1555165094
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=)
NM_001370259.2(MEN1):c.96G>A (p.Pro32=) rs1268807885
NM_001370259.2(MEN1):c.972G>C (p.Leu324=) rs1592643568
NM_001370259.2(MEN1):c.978C>T (p.Gly326=) rs1555165071
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=) rs1592643488
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
NM_001370259.2(MEN1):c.990C>T (p.Arg330=) rs1359880787
NM_001370259.2(MEN1):c.996C>T (p.Arg332=) rs2136119464
NM_001370259.2(MEN1):c.99C>T (p.Asp33=)
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
NM_001395413.1(POR):c.1023C>T (p.Asp341=)
NM_001395413.1(POR):c.102C>T (p.Ile34=) rs371758475
NM_001395413.1(POR):c.1032C>T (p.Val344=)
NM_001395413.1(POR):c.1051C>T (p.Leu351=)
NM_001395413.1(POR):c.1053G>A (p.Leu351=)
NM_001395413.1(POR):c.1057+11C>G
NM_001395413.1(POR):c.1057+11_1057+12del
NM_001395413.1(POR):c.1057+12A>C
NM_001395413.1(POR):c.1057+17G>A
NM_001395413.1(POR):c.1057+18G>A
NM_001395413.1(POR):c.1058-4G>A
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
NM_001395413.1(POR):c.111C>T (p.Leu37=)
NM_001395413.1(POR):c.1125G>A (p.Leu375=) rs112719660
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
NM_001395413.1(POR):c.1239+11_1239+19del rs782775039
NM_001395413.1(POR):c.1239+14_1239+22del
NM_001395413.1(POR):c.1239+15C>T
NM_001395413.1(POR):c.1239+16C>T
NM_001395413.1(POR):c.1239+17C>T
NM_001395413.1(POR):c.1239+18C>T
NM_001395413.1(POR):c.1239+19C>T
NM_001395413.1(POR):c.1240-11G>A
NM_001395413.1(POR):c.1240-11G>C
NM_001395413.1(POR):c.1240-12C>T rs1208139617
NM_001395413.1(POR):c.1240-14C>A
NM_001395413.1(POR):c.1240-15C>T
NM_001395413.1(POR):c.1240-5C>T rs2116624933
NM_001395413.1(POR):c.1240-7C>T
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
NM_001395413.1(POR):c.1254C>T (p.Ser418=) rs1392235928
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
NM_001395413.1(POR):c.1389+12C>T
NM_001395413.1(POR):c.1389+18C>G
NM_001395413.1(POR):c.1389+19C>T
NM_001395413.1(POR):c.1390-12C>G
NM_001395413.1(POR):c.1390-15C>T
NM_001395413.1(POR):c.1390-4A>C
NM_001395413.1(POR):c.1390-5C>A
NM_001395413.1(POR):c.1392C>A (p.Val464=)
NM_001395413.1(POR):c.1395C>T (p.His465=)
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1410C>T (p.His470=)
NM_001395413.1(POR):c.1422G>C (p.Val474=)
NM_001395413.1(POR):c.1428G>A (p.Val476=)
NM_001395413.1(POR):c.1428G>C (p.Val476=)
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del) rs72553987
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
NM_001395413.1(POR):c.1482G>A (p.Leu494=) rs370326231
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
NM_001395413.1(POR):c.153C>T (p.Val51=)
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
NM_001395413.1(POR):c.156C>T (p.Pro52=) rs782368623
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
NM_001395413.1(POR):c.1593G>T (p.Val531=)
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
NM_001395413.1(POR):c.15C>T (p.His5=)
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
NM_001395413.1(POR):c.1660+10G>T
NM_001395413.1(POR):c.1660+12C>A
NM_001395413.1(POR):c.1660+16T>C
NM_001395413.1(POR):c.1660+16T>G
NM_001395413.1(POR):c.1660+17G>A
NM_001395413.1(POR):c.1660+17G>C
NM_001395413.1(POR):c.1660+8G>C
NM_001395413.1(POR):c.1660+9G>A rs1554559215
NM_001395413.1(POR):c.1661-10T>G
NM_001395413.1(POR):c.1661-13C>T
NM_001395413.1(POR):c.1661-19C>T
NM_001395413.1(POR):c.1661-5C>T
NM_001395413.1(POR):c.1661-7C>A
NM_001395413.1(POR):c.1661-7C>G
NM_001395413.1(POR):c.1671G>T (p.Val557=)
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
NM_001395413.1(POR):c.1722G>A (p.Leu574=) rs1554559285
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
NM_001395413.1(POR):c.179+10G>A
NM_001395413.1(POR):c.179+14C>G
NM_001395413.1(POR):c.179+14C>T
NM_001395413.1(POR):c.179+15_179+16del
NM_001395413.1(POR):c.179+16C>G
NM_001395413.1(POR):c.179+9C>T
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
NM_001395413.1(POR):c.180-15_180-14del
NM_001395413.1(POR):c.180-18C>T
NM_001395413.1(POR):c.180-5T>C
NM_001395413.1(POR):c.180-8T>C
NM_001395413.1(POR):c.1806+10G>T
NM_001395413.1(POR):c.1806+11C>T
NM_001395413.1(POR):c.1806+15C>A
NM_001395413.1(POR):c.1806+15C>G
NM_001395413.1(POR):c.1806+9G>C
NM_001395413.1(POR):c.1807-15C>T
NM_001395413.1(POR):c.1807-4C>T
NM_001395413.1(POR):c.1807-8G>C
NM_001395413.1(POR):c.1809C>G (p.Val603=)
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
NM_001395413.1(POR):c.1815C>G (p.Val605=)
NM_001395413.1(POR):c.1815C>T (p.Val605=)
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
NM_001395413.1(POR):c.1860C>A (p.Ile620=) rs553145252
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
NM_001395413.1(POR):c.186C>G (p.Ser62=)
NM_001395413.1(POR):c.1889+7G>A
NM_001395413.1(POR):c.1889+8A>C
NM_001395413.1(POR):c.1889+8_1889+11del rs782708898
NM_001395413.1(POR):c.1889+9G>T rs782024811
NM_001395413.1(POR):c.1890-11T>A
NM_001395413.1(POR):c.1890-12_1890-11del
NM_001395413.1(POR):c.1890-12dup
NM_001395413.1(POR):c.1890-13T>C
NM_001395413.1(POR):c.1890-14C>G
NM_001395413.1(POR):c.1890-17C>A
NM_001395413.1(POR):c.1890-19A>C
NM_001395413.1(POR):c.1890-20C>T
NM_001395413.1(POR):c.1890-6G>A
NM_001395413.1(POR):c.1890-8C>T
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
NM_001395413.1(POR):c.1965C>T (p.His655=)
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
NM_001395413.1(POR):c.1977G>A (p.Val659=)
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
NM_001395413.1(POR):c.2025G>A (p.Val675=)
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
NM_001395413.1(POR):c.228+14A>G
NM_001395413.1(POR):c.228+20T>C
NM_001395413.1(POR):c.228+20T>G
NM_001395413.1(POR):c.229-10C>T
NM_001395413.1(POR):c.229-11G>A
NM_001395413.1(POR):c.229-13C>T
NM_001395413.1(POR):c.229-15G>A
NM_001395413.1(POR):c.229-15_229-14del
NM_001395413.1(POR):c.229-16T>G
NM_001395413.1(POR):c.229-17G>A
NM_001395413.1(POR):c.229-19C>G
NM_001395413.1(POR):c.229-19C>T
NM_001395413.1(POR):c.229-19_229-18del
NM_001395413.1(POR):c.229-8T>C
NM_001395413.1(POR):c.229-9C>G
NM_001395413.1(POR):c.237C>T (p.Asn79=) rs1585126959
NM_001395413.1(POR):c.240C>A (p.Ile80=)
NM_001395413.1(POR):c.243C>T (p.Ile81=)
NM_001395413.1(POR):c.246G>T (p.Val82=)
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
NM_001395413.1(POR):c.264G>A (p.Thr88=)
NM_001395413.1(POR):c.270T>C (p.Thr90=)
NM_001395413.1(POR):c.285C>T (p.Ala95=) rs1554557307
NM_001395413.1(POR):c.291C>A (p.Arg97=)
NM_001395413.1(POR):c.300G>A (p.Lys100=)
NM_001395413.1(POR):c.303C>T (p.Asp101=)
NM_001395413.1(POR):c.336G>A (p.Ala112=)
NM_001395413.1(POR):c.33C>T (p.Thr11=)
NM_001395413.1(POR):c.345G>A (p.Glu115=)
NM_001395413.1(POR):c.348G>A (p.Glu116=)
NM_001395413.1(POR):c.357+13C>T
NM_001395413.1(POR):c.357+15C>T
NM_001395413.1(POR):c.357+16G>A
NM_001395413.1(POR):c.357+16G>T rs782083860
NM_001395413.1(POR):c.357+18G>A
NM_001395413.1(POR):c.357+18G>C
NM_001395413.1(POR):c.357+8G>A
NM_001395413.1(POR):c.358-12_358-11del
NM_001395413.1(POR):c.358-14C>G
NM_001395413.1(POR):c.358-18C>G
NM_001395413.1(POR):c.358-5T>C
NM_001395413.1(POR):c.358-9_358-4del
NM_001395413.1(POR):c.364C>T (p.Leu122=)
NM_001395413.1(POR):c.366G>A (p.Leu122=)
NM_001395413.1(POR):c.36G>A (p.Val12=) rs781862803
NM_001395413.1(POR):c.384C>T (p.Ile128=) rs782166276
NM_001395413.1(POR):c.39C>T (p.Ser13=)
NM_001395413.1(POR):c.408C>T (p.Cys136=)
NM_001395413.1(POR):c.423T>C (p.Gly141=)
NM_001395413.1(POR):c.447C>T (p.Ala149=)
NM_001395413.1(POR):c.450G>A (p.Gln150=)
NM_001395413.1(POR):c.453C>T (p.Asp151=)
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
NM_001395413.1(POR):c.477A>G (p.Thr159=)
NM_001395413.1(POR):c.480C>T (p.Asp160=)
NM_001395413.1(POR):c.483G>A (p.Val161=)
NM_001395413.1(POR):c.498C>T (p.Val166=)
NM_001395413.1(POR):c.507+18T>G
NM_001395413.1(POR):c.508-13T>C
NM_001395413.1(POR):c.508-19G>A
NM_001395413.1(POR):c.508-19G>T
NM_001395413.1(POR):c.508-5C>T
NM_001395413.1(POR):c.508-7C>T
NM_001395413.1(POR):c.516T>C (p.Gly172=)
NM_001395413.1(POR):c.519T>C (p.Leu173=)
NM_001395413.1(POR):c.51C>G (p.Ala17=)
NM_001395413.1(POR):c.51C>T (p.Ala17=)
NM_001395413.1(POR):c.522G>C (p.Gly174=)
NM_001395413.1(POR):c.531C>T (p.Thr177=) rs782409308
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
NM_001395413.1(POR):c.540C>T (p.His180=)
NM_001395413.1(POR):c.546T>C (p.Asn182=)
NM_001395413.1(POR):c.549C>T (p.Ala183=)
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.585C>T (p.Leu195=)
NM_001395413.1(POR):c.588C>A (p.Gly196=)
NM_001395413.1(POR):c.600C>T (p.Ile200=)
NM_001395413.1(POR):c.60A>G (p.Val20=)
NM_001395413.1(POR):c.612G>A (p.Gly204=)
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001395413.1(POR):c.618C>T (p.Gly206=)
NM_001395413.1(POR):c.621C>T (p.Asp207=)
NM_001395413.1(POR):c.624C>T (p.Asp208=)
NM_001395413.1(POR):c.632+11A>G
NM_001395413.1(POR):c.632+14C>A
NM_001395413.1(POR):c.632+15T>C rs2116595459
NM_001395413.1(POR):c.632+18C>T
NM_001395413.1(POR):c.632+7G>A
NM_001395413.1(POR):c.633-12T>C
NM_001395413.1(POR):c.633-14T>G
NM_001395413.1(POR):c.633-16C>G
NM_001395413.1(POR):c.633-20C>A
NM_001395413.1(POR):c.633-20C>G rs368640263
NM_001395413.1(POR):c.633-20C>T
NM_001395413.1(POR):c.633-7G>C
NM_001395413.1(POR):c.651C>T (p.Ile217=)
NM_001395413.1(POR):c.658C>A (p.Arg220=)
NM_001395413.1(POR):c.681G>T (p.Val227=)
NM_001395413.1(POR):c.711C>G (p.Gly237=)
NM_001395413.1(POR):c.722+10T>C
NM_001395413.1(POR):c.722+14C>T
NM_001395413.1(POR):c.722+15G>A
NM_001395413.1(POR):c.722+15G>T
NM_001395413.1(POR):c.722+17A>G
NM_001395413.1(POR):c.722+18G>A
NM_001395413.1(POR):c.722+8A>C
NM_001395413.1(POR):c.723-11C>G
NM_001395413.1(POR):c.723-11C>T
NM_001395413.1(POR):c.723-15dup
NM_001395413.1(POR):c.723-16G>C
NM_001395413.1(POR):c.723-7T>G
NM_001395413.1(POR):c.723-9C>T
NM_001395413.1(POR):c.738G>A (p.Glu246=)
NM_001395413.1(POR):c.753C>G (p.Thr251=)
NM_001395413.1(POR):c.753C>T (p.Thr251=)
NM_001395413.1(POR):c.765G>A (p.Ala255=)
NM_001395413.1(POR):c.765G>C (p.Ala255=)
NM_001395413.1(POR):c.768C>T (p.Ala256=)
NM_001395413.1(POR):c.771G>A (p.Lys257=)
NM_001395413.1(POR):c.774G>T (p.Val258=)
NM_001395413.1(POR):c.793C>A (p.Arg265=)
NM_001395413.1(POR):c.798G>T (p.Leu266=)
NM_001395413.1(POR):c.804C>T (p.Ser268=) rs201598971
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
NM_001395413.1(POR):c.810G>A (p.Glu270=)
NM_001395413.1(POR):c.813C>T (p.Asn271=)
NM_001395413.1(POR):c.821+10G>C
NM_001395413.1(POR):c.821+13del
NM_001395413.1(POR):c.821+16G>A
NM_001395413.1(POR):c.821+17T>C
NM_001395413.1(POR):c.821+18G>T
NM_001395413.1(POR):c.821+20C>T
NM_001395413.1(POR):c.821+9A>G
NM_001395413.1(POR):c.821+9_821+24del
NM_001395413.1(POR):c.822-11T>C
NM_001395413.1(POR):c.822-11_822-9del rs782696938
NM_001395413.1(POR):c.822-4C>G
NM_001395413.1(POR):c.822-5C>T
NM_001395413.1(POR):c.834C>T (p.Ala278=)
NM_001395413.1(POR):c.837G>A (p.Lys279=)
NM_001395413.1(POR):c.843G>A (p.Pro281=)
NM_001395413.1(POR):c.855A>G (p.Ala285=)
NM_001395413.1(POR):c.858C>A (p.Val286=)
NM_001395413.1(POR):c.874C>T (p.Leu292=)
NM_001395413.1(POR):c.87T>C (p.Ile29=)
NM_001395413.1(POR):c.913T>C (p.Leu305=)
NM_001395413.1(POR):c.924G>A (p.Ser308=)
NM_001395413.1(POR):c.924G>C (p.Ser308=) rs782746771
NM_001395413.1(POR):c.930C>T (p.Ser310=)
NM_001395413.1(POR):c.936C>T (p.Ile312=)
NM_001395413.1(POR):c.938+13A>G
NM_001395413.1(POR):c.938+16G>A
NM_001395413.1(POR):c.938+18C>T
NM_001395413.1(POR):c.938+22_938+24dup
NM_001395413.1(POR):c.938+23_938+24del
NM_001395413.1(POR):c.938+7G>A
NM_001395413.1(POR):c.939-20A>G
NM_001395413.1(POR):c.939-21_939-17del
NM_001395413.1(POR):c.939-6C>A
NM_001395413.1(POR):c.939-6C>T
NM_001395413.1(POR):c.957C>T (p.His319=)
NM_001395413.1(POR):c.96G>A (p.Ser32=)
NM_001395413.1(POR):c.984T>C (p.Ser328=)
NM_001395413.1(POR):c.993C>G (p.Val331=)
NM_002382.5(MAX):c.126C>T (p.Ser42=)
NM_002382.5(MAX):c.12C>T (p.Asn4=) rs1595191376
NM_002382.5(MAX):c.138G>A (p.Leu46=) rs1595166865
NM_002382.5(MAX):c.141G>A (p.Arg47=)
NM_002382.5(MAX):c.150C>T (p.Val50=) rs2139883121
NM_002382.5(MAX):c.159C>G (p.Leu53=) rs1187607686
NM_002382.5(MAX):c.159C>T (p.Leu53=) rs1187607686
NM_002382.5(MAX):c.171+18G>A
NM_002382.5(MAX):c.171+9C>G
NM_002382.5(MAX):c.171+9C>T rs750256858
NM_002382.5(MAX):c.172-10_172-9del
NM_002382.5(MAX):c.172-13C>T rs2063106962
NM_002382.5(MAX):c.172-14T>C
NM_002382.5(MAX):c.172-15C>T
NM_002382.5(MAX):c.172-17T>C
NM_002382.5(MAX):c.189C>A (p.Ile63=)
NM_002382.5(MAX):c.213C>T (p.Ile71=) rs777274451
NM_002382.5(MAX):c.216G>A (p.Gln72=) rs2139754832
NM_002382.5(MAX):c.225A>C (p.Arg75=) rs2063104742
NM_002382.5(MAX):c.24G>A (p.Glu8=) rs2139977078
NM_002382.5(MAX):c.261C>T (p.Asp87=) rs750761201
NM_002382.5(MAX):c.264C>T (p.Leu88=) rs2139753133
NM_002382.5(MAX):c.267G>A (p.Lys89=)
NM_002382.5(MAX):c.268C>A (p.Arg90=) rs1060500099
NM_002382.5(MAX):c.270G>C (p.Arg90=)
NM_002382.5(MAX):c.288G>A (p.Glu96=) rs1595130838
NM_002382.5(MAX):c.291G>A (p.Gln97=) rs1046488730
NM_002382.5(MAX):c.295+10C>G rs375446224
NM_002382.5(MAX):c.295+11G>T
NM_002382.5(MAX):c.295+14C>G rs762605226
NM_002382.5(MAX):c.295+14C>T
NM_002382.5(MAX):c.295+16C>G rs537719104
NM_002382.5(MAX):c.295+16C>T rs537719104
NM_002382.5(MAX):c.295+17G>A rs201127403
NM_002382.5(MAX):c.295+19G>A rs2139751619
NM_002382.5(MAX):c.295+8C>T rs754409025
NM_002382.5(MAX):c.295+9C>T
NM_002382.5(MAX):c.296-12G>C rs2139742201
NM_002382.5(MAX):c.296-14T>C
NM_002382.5(MAX):c.296-15T>C rs760244573
NM_002382.5(MAX):c.296-20C>T
NM_002382.5(MAX):c.296-25AC[2]
NM_002382.5(MAX):c.296-4T>C rs2139742186
NM_002382.5(MAX):c.297C>T (p.Val99=)
NM_002382.5(MAX):c.303A>G (p.Ala101=)
NM_002382.5(MAX):c.306G>A (p.Leu102=)
NM_002382.5(MAX):c.309G>A (p.Glu103=) rs2139741966
NM_002382.5(MAX):c.315G>A (p.Ala105=) rs761220254
NM_002382.5(MAX):c.321A>G (p.Ser107=)
NM_002382.5(MAX):c.327C>T (p.Ala109=) rs1595127360
NM_002382.5(MAX):c.330A>G (p.Gln110=) rs772661746
NM_002382.5(MAX):c.333G>A (p.Leu111=) rs2139741549
NM_002382.5(MAX):c.336G>A (p.Gln112=) rs1595127306
NM_002382.5(MAX):c.339C>T (p.Thr113=) rs786203812
NM_002382.5(MAX):c.33C>T (p.Ser11=)
NM_002382.5(MAX):c.348C>T (p.Pro116=)
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.36+10G>C rs1421908769
NM_002382.5(MAX):c.36+13G>T
NM_002382.5(MAX):c.36+13dup
NM_002382.5(MAX):c.36+14C>T rs2139976291
NM_002382.5(MAX):c.36+16del rs2139976241
NM_002382.5(MAX):c.36+20C>A
NM_002382.5(MAX):c.36+20C>T rs1308181941
NM_002382.5(MAX):c.36+9T>C rs774467253
NM_002382.5(MAX):c.363C>T (p.Ser121=)
NM_002382.5(MAX):c.366C>T (p.Leu122=)
NM_002382.5(MAX):c.369C>T (p.Tyr123=) rs2063063134
NM_002382.5(MAX):c.37-10C>T rs1457798349
NM_002382.5(MAX):c.37-12_37-9del rs2139964910
NM_002382.5(MAX):c.37-4C>A rs747811786
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.37-6T>C rs1389763236
NM_002382.5(MAX):c.37-7A>G rs755615437
NM_002382.5(MAX):c.372C>A (p.Thr124=)
NM_002382.5(MAX):c.372C>G (p.Thr124=)
NM_002382.5(MAX):c.378C>T (p.Ala126=) rs2139740643
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.387C>T (p.Ser129=)
NM_002382.5(MAX):c.390C>T (p.Thr130=) rs2139740415
NM_002382.5(MAX):c.405T>C (p.Asp135=) rs1354621995
NM_002382.5(MAX):c.408G>A (p.Gly136=) rs764320975
NM_002382.5(MAX):c.414G>C (p.Ser138=)
NM_002382.5(MAX):c.429G>A (p.Glu143=) rs773818427
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.432T>C (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.432T>G (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.435G>A (p.Glu145=) rs1555340184
NM_002382.5(MAX):c.438T>A (p.Pro146=)
NM_002382.5(MAX):c.444G>A (p.Glu148=)
NM_002382.5(MAX):c.447C>G (p.Pro149=)
NM_002382.5(MAX):c.456G>A (p.Arg152=) rs546006873
NM_002382.5(MAX):c.459G>A (p.Lys153=) rs2139739290
NM_002382.5(MAX):c.45A>G (p.Gln15=) rs2139964326
NM_002382.5(MAX):c.474G>A (p.Glu158=)
NM_002382.5(MAX):c.48G>A (p.Pro16=) rs766338234
NM_002382.5(MAX):c.48G>C (p.Pro16=) rs766338234
NM_002382.5(MAX):c.51G>A (p.Arg17=)
NM_002382.5(MAX):c.60T>C (p.Ser20=)
NM_002382.5(MAX):c.63+10C>G rs764233219
NM_002382.5(MAX):c.63+10del rs2139963249
NM_002382.5(MAX):c.63+7C>T rs761752335
NM_002382.5(MAX):c.63+9C>G
NM_002382.5(MAX):c.63+9C>T rs1172912017
NM_002382.5(MAX):c.64-10A>T
NM_002382.5(MAX):c.64-11C>T
NM_002382.5(MAX):c.64-16dup
NM_002382.5(MAX):c.64-17_64-3dup rs2139887565
NM_002382.5(MAX):c.64-19C>A
NM_002382.5(MAX):c.64-4C>T rs1312005416
NM_002382.5(MAX):c.64-6T>G
NM_002382.5(MAX):c.64-8T>A rs2139887706
NM_002382.5(MAX):c.78T>C (p.Ala26=)
NM_002382.5(MAX):c.84T>C (p.His28=) rs2139886462
NM_002382.5(MAX):c.90A>G (p.Ala30=)
NM_002382.5(MAX):c.91C>T (p.Leu31=) rs1595166940
NM_002382.5(MAX):c.93G>A (p.Leu31=)
NM_003000.3(SDHB):c.111C>G (p.Pro37=)
NM_003000.3(SDHB):c.120G>A (p.Lys40=) rs1570958090
NM_003000.3(SDHB):c.12G>A (p.Val4=) rs768683606
NM_003000.3(SDHB):c.12G>C (p.Val4=) rs768683606
NM_003000.3(SDHB):c.138A>G (p.Arg46=) rs1392672185
NM_003000.3(SDHB):c.138A>T (p.Arg46=) rs1392672185
NM_003000.3(SDHB):c.147A>G (p.Pro49=) rs2101541448
NM_003000.3(SDHB):c.15C>A (p.Val5=) rs1182998682
NM_003000.3(SDHB):c.15C>G (p.Val5=) rs1182998682
NM_003000.3(SDHB):c.15C>T (p.Val5=) rs1182998682
NM_003000.3(SDHB):c.162C>T (p.Asp54=) rs2101541392
NM_003000.3(SDHB):c.180T>A (p.Thr60=) rs2101541350
NM_003000.3(SDHB):c.189T>C (p.Val63=) rs2101541333
NM_003000.3(SDHB):c.18C>G (p.Ala6=) rs2746462
NM_003000.3(SDHB):c.18C>T (p.Ala6=) rs2746462
NM_003000.3(SDHB):c.200+11C>T
NM_003000.3(SDHB):c.200+18A>T
NM_003000.3(SDHB):c.200+9C>A rs2101541285
NM_003000.3(SDHB):c.201-17A>G rs2101529168
NM_003000.3(SDHB):c.201-18G>A rs765108144
NM_003000.3(SDHB):c.201-18G>T rs765108144
NM_003000.3(SDHB):c.201-20T>C
NM_003000.3(SDHB):c.201-4T>A
NM_003000.3(SDHB):c.201-6T>C rs2101529151
NM_003000.3(SDHB):c.201-7T>G rs2078032733
NM_003000.3(SDHB):c.201-9C>T rs201108188
NM_003000.3(SDHB):c.207C>T (p.Gly69=) rs2101529103
NM_003000.3(SDHB):c.216A>G (p.Val72=) rs1570951479
NM_003000.3(SDHB):c.21C>A (p.Leu7=) rs147815442
NM_003000.3(SDHB):c.21C>G (p.Leu7=) rs147815442
NM_003000.3(SDHB):c.234G>A (p.Lys78=) rs776971836
NM_003000.3(SDHB):c.243T>C (p.Asn81=) rs2101528976
NM_003000.3(SDHB):c.249T>C (p.Val83=) rs1570951394
NM_003000.3(SDHB):c.24C>G (p.Ser8=)
NM_003000.3(SDHB):c.252C>T (p.Asp84=) rs1427902008
NM_003000.3(SDHB):c.25T>C (p.Leu9=) rs1060503768
NM_003000.3(SDHB):c.264C>G (p.Thr88=) rs41310416
NM_003000.3(SDHB):c.264C>T (p.Thr88=) rs41310416
NM_003000.3(SDHB):c.267C>T (p.Phe89=) rs1553178042
NM_003000.3(SDHB):c.276A>C (p.Ser92=)
NM_003000.3(SDHB):c.279C>T (p.Cys93=) rs2101528858
NM_003000.3(SDHB):c.27G>A (p.Leu9=) rs2101551820
NM_003000.3(SDHB):c.286+15C>T rs2078031756
NM_003000.3(SDHB):c.286+17T>C
NM_003000.3(SDHB):c.286+18G>C rs1352485549
NM_003000.3(SDHB):c.286+18G>T rs1352485549
NM_003000.3(SDHB):c.286+7A>G rs747131231
NM_003000.3(SDHB):c.286+8T>C rs2101528825
NM_003000.3(SDHB):c.286+9T>G
NM_003000.3(SDHB):c.287-11G>A rs2101523489
NM_003000.3(SDHB):c.287-13G>A
NM_003000.3(SDHB):c.287-16T>C rs2078005658
NM_003000.3(SDHB):c.287-20T>A
NM_003000.3(SDHB):c.287-20_287-18del
NM_003000.3(SDHB):c.287-4del rs2101523473
NM_003000.3(SDHB):c.287-8T>C rs2101523482
NM_003000.3(SDHB):c.287-9C>A
NM_003000.3(SDHB):c.287-9C>G rs775784091
NM_003000.3(SDHB):c.287-9C>T
NM_003000.3(SDHB):c.303T>C (p.Cys101=) rs2101523383
NM_003000.3(SDHB):c.306A>G (p.Ala102=) rs1553177766
NM_003000.3(SDHB):c.30G>A (p.Arg10=)
NM_003000.3(SDHB):c.315C>T (p.Ile105=)
NM_003000.3(SDHB):c.318T>C (p.Asn106=) rs2101523320
NM_003000.3(SDHB):c.330T>C (p.Thr110=) rs2101523275
NM_003000.3(SDHB):c.331C>T (p.Leu111=)
NM_003000.3(SDHB):c.333A>G (p.Leu111=) rs2101523252
NM_003000.3(SDHB):c.336T>C (p.Ala112=) rs2101523242
NM_003000.3(SDHB):c.339C>T (p.Cys113=) rs754582722
NM_003000.3(SDHB):c.33C>G (p.Arg11=) rs146399542
NM_003000.3(SDHB):c.342C>A (p.Thr114=)
NM_003000.3(SDHB):c.342C>T (p.Thr114=) rs528599830
NM_003000.3(SDHB):c.351T>A (p.Ile117=) rs2101523192
NM_003000.3(SDHB):c.357C>T (p.Thr119=) rs1553177749
NM_003000.3(SDHB):c.363C>T (p.Leu121=)
NM_003000.3(SDHB):c.36G>A (p.Arg12=) rs754024341
NM_003000.3(SDHB):c.375A>G (p.Ser125=) rs2101523080
NM_003000.3(SDHB):c.393A>G (p.Pro131=)
NM_003000.3(SDHB):c.396C>T (p.His132=)
NM_003000.3(SDHB):c.39G>A (p.Leu13=) rs201745731
NM_003000.3(SDHB):c.402T>C (p.Tyr134=) rs2101522991
NM_003000.3(SDHB):c.405G>A (p.Val135=) rs2101522982
NM_003000.3(SDHB):c.411G>A (p.Lys137=) rs2078004300
NM_003000.3(SDHB):c.417T>C (p.Leu139=) rs1570948513
NM_003000.3(SDHB):c.423+10T>G rs201600439
NM_003000.3(SDHB):c.423+11G>A
NM_003000.3(SDHB):c.423+11G>T rs2101522890
NM_003000.3(SDHB):c.423+12C>T rs2078004107
NM_003000.3(SDHB):c.423+13A>G
NM_003000.3(SDHB):c.423+15CT[2] rs778120334
NM_003000.3(SDHB):c.423+17C>T rs2101522881
NM_003000.3(SDHB):c.423+18T>G rs2101522874
NM_003000.3(SDHB):c.423+19C>G
NM_003000.3(SDHB):c.423+19C>T
NM_003000.3(SDHB):c.423+20T>C rs190139590
NM_003000.3(SDHB):c.423+7T>C rs2101522903
NM_003000.3(SDHB):c.423+8T>C rs2101522899
NM_003000.3(SDHB):c.423+8T>G rs2101522899
NM_003000.3(SDHB):c.423+9C>G rs1570948499
NM_003000.3(SDHB):c.423+9C>T rs1570948499
NM_003000.3(SDHB):c.424-10T>G
NM_003000.3(SDHB):c.424-12T>C
NM_003000.3(SDHB):c.424-13C>G
NM_003000.3(SDHB):c.424-13C>T
NM_003000.3(SDHB):c.424-13_424-11dup rs1365741915
NM_003000.3(SDHB):c.424-13del
NM_003000.3(SDHB):c.424-14_424-13insCTC
NM_003000.3(SDHB):c.424-14_424-9del
NM_003000.3(SDHB):c.424-14_424-9dup rs1064794554
NM_003000.3(SDHB):c.424-16T>C
NM_003000.3(SDHB):c.424-17_424-9del rs2101521957
NM_003000.3(SDHB):c.424-19T>C rs201836574
NM_003000.3(SDHB):c.424-37TTC[11] rs34261028
NM_003000.3(SDHB):c.424-37TTC[5] rs34261028
NM_003000.3(SDHB):c.424-5C>G rs1553177690
NM_003000.3(SDHB):c.424-5C>T
NM_003000.3(SDHB):c.424-6dup rs2101521941
NM_003000.3(SDHB):c.424-7A>C rs1570948064
NM_003000.3(SDHB):c.424-7A>T rs1570948064
NM_003000.3(SDHB):c.424-9T>G
NM_003000.3(SDHB):c.435C>T (p.Asn145=) rs2101521900
NM_003000.3(SDHB):c.444A>T (p.Ala148=)
NM_003000.3(SDHB):c.447G>A (p.Gln149=) rs200353146
NM_003000.3(SDHB):c.453A>G (p.Lys151=) rs1570947967
NM_003000.3(SDHB):c.456C>A (p.Ser152=)
NM_003000.3(SDHB):c.459T>C (p.Ile153=)
NM_003000.3(SDHB):c.45C>T (p.Ala15=) rs764875162
NM_003000.3(SDHB):c.465T>C (p.Pro155=) rs1553177685
NM_003000.3(SDHB):c.468T>C (p.Tyr156=) rs199718947
NM_003000.3(SDHB):c.469T>C (p.Leu157=)
NM_003000.3(SDHB):c.477G>A (p.Lys159=) rs2101521741
NM_003000.3(SDHB):c.480G>A (p.Lys160=) rs1553177683
NM_003000.3(SDHB):c.48A>C (p.Thr16=) rs1570963474
NM_003000.3(SDHB):c.492G>A (p.Gln164=) rs2101521670
NM_003000.3(SDHB):c.501G>A (p.Lys167=) rs1570947881
NM_003000.3(SDHB):c.507G>A (p.Gln169=) rs2101521627
NM_003000.3(SDHB):c.511C>T (p.Leu171=) rs780870337
NM_003000.3(SDHB):c.513G>A (p.Leu171=) rs2101521615
NM_003000.3(SDHB):c.516G>A (p.Gln172=) rs138937650
NM_003000.3(SDHB):c.51C>G (p.Thr17=)
NM_003000.3(SDHB):c.51C>T (p.Thr17=) rs550555402
NM_003000.3(SDHB):c.534G>A (p.Glu178=) rs2077999274
NM_003000.3(SDHB):c.540+11C>G
NM_003000.3(SDHB):c.540+12C>G rs2077999115
NM_003000.3(SDHB):c.540+12C>T rs2077999115
NM_003000.3(SDHB):c.540+13T>C rs2101521499
NM_003000.3(SDHB):c.540+16T>C
NM_003000.3(SDHB):c.540+8G>A rs2077999169
NM_003000.3(SDHB):c.541-10C>T rs200004039
NM_003000.3(SDHB):c.541-11T>C rs1014439132
NM_003000.3(SDHB):c.541-12C>T
NM_003000.3(SDHB):c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC
NM_003000.3(SDHB):c.541-14T>C
NM_003000.3(SDHB):c.541-14_541-13del rs2101516735
NM_003000.3(SDHB):c.541-16T>G
NM_003000.3(SDHB):c.541-17C>G
NM_003000.3(SDHB):c.541-18_541-8dup rs1553177448
NM_003000.3(SDHB):c.541-21CT[2]
NM_003000.3(SDHB):c.541-30_541-2dup rs751159957
NM_003000.3(SDHB):c.541-4A>T rs2077978890
NM_003000.3(SDHB):c.541-5T>C rs2101516704
NM_003000.3(SDHB):c.541-6A>G rs1195530396
NM_003000.3(SDHB):c.541-6A>T rs1195530396
NM_003000.3(SDHB):c.541-7C>G rs201558574
NM_003000.3(SDHB):c.541-8C>T
NM_003000.3(SDHB):c.546G>A (p.Gly182=)
NM_003000.3(SDHB):c.549C>T (p.Leu183=) rs1411654404
NM_003000.3(SDHB):c.54T>C (p.Leu18=) rs759446168
NM_003000.3(SDHB):c.54T>G (p.Leu18=) rs759446168
NM_003000.3(SDHB):c.555G>A (p.Glu185=)
NM_003000.3(SDHB):c.558C>T (p.Cys186=) rs1570945906
NM_003000.3(SDHB):c.564C>T (p.Leu188=) rs776487215
NM_003000.3(SDHB):c.570C>G (p.Ala190=) rs2101516535
NM_003000.3(SDHB):c.57C>T (p.Gly19=) rs1326601709
NM_003000.3(SDHB):c.582C>G (p.Thr194=) rs775450654
NM_003000.3(SDHB):c.582C>T (p.Thr194=) rs775450654
NM_003000.3(SDHB):c.588C>T (p.Cys196=) rs1060505015
NM_003000.3(SDHB):c.591C>T (p.Pro197=)
NM_003000.3(SDHB):c.597C>T (p.Tyr199=) rs1570945852
NM_003000.3(SDHB):c.609A>C (p.Gly203=) rs1570945818
NM_003000.3(SDHB):c.60A>C (p.Gly20=)
NM_003000.3(SDHB):c.619C>T (p.Leu207=) rs1570945806
NM_003000.3(SDHB):c.627T>C (p.Pro209=) rs1060505016
NM_003000.3(SDHB):c.630A>C (p.Ala210=)
NM_003000.3(SDHB):c.636T>C (p.Leu212=) rs778439194
NM_003000.3(SDHB):c.63C>G (p.Ala21=) rs1557749647
NM_003000.3(SDHB):c.642+10T>A rs780427803
NM_003000.3(SDHB):c.642+10T>C rs780427803
NM_003000.3(SDHB):c.642+10T>G
NM_003000.3(SDHB):c.642+14_642+25del rs763857045
NM_003000.3(SDHB):c.642+20C>G
NM_003000.3(SDHB):c.642+8G>A
NM_003000.3(SDHB):c.642+9C>G rs2077977174
NM_003000.3(SDHB):c.642+9C>T
NM_003000.3(SDHB):c.643-11T>C
NM_003000.3(SDHB):c.643-11T>G
NM_003000.3(SDHB):c.643-12C>G rs2101514078
NM_003000.3(SDHB):c.643-14C>A
NM_003000.3(SDHB):c.643-15T>C
NM_003000.3(SDHB):c.643-15del
NM_003000.3(SDHB):c.643-16A>G
NM_003000.3(SDHB):c.643-17C>T rs2101514084
NM_003000.3(SDHB):c.643-20_643-18dup
NM_003000.3(SDHB):c.643-4dup rs1570944969
NM_003000.3(SDHB):c.643-8T>C rs2101514064
NM_003000.3(SDHB):c.643-9G>A
NM_003000.3(SDHB):c.672T>C (p.Asp224=)
NM_003000.3(SDHB):c.675C>T (p.Asp225=)
NM_003000.3(SDHB):c.678C>T (p.Phe226=) rs1570944907
NM_003000.3(SDHB):c.67C>T (p.Leu23=)
NM_003000.3(SDHB):c.684G>A (p.Glu228=) rs2101513893
NM_003000.3(SDHB):c.690C>A (p.Arg230=)
NM_003000.3(SDHB):c.693G>A (p.Leu231=) rs2101513857
NM_003000.3(SDHB):c.699G>A (p.Lys233=)
NM_003000.3(SDHB):c.69G>C (p.Leu23=)
NM_003000.3(SDHB):c.702G>A (p.Leu234=)
NM_003000.3(SDHB):c.711A>C (p.Pro237=) rs1570944839
NM_003000.3(SDHB):c.711A>G (p.Pro237=) rs1570944839
NM_003000.3(SDHB):c.717T>A (p.Ser239=) rs2101513742
NM_003000.3(SDHB):c.717T>C (p.Ser239=) rs2101513742
NM_003000.3(SDHB):c.72+10G>A rs2101551608
NM_003000.3(SDHB):c.72+10G>C rs2101551608
NM_003000.3(SDHB):c.72+13G>T
NM_003000.3(SDHB):c.72+14C>T rs1321607765
NM_003000.3(SDHB):c.72+15C>T
NM_003000.3(SDHB):c.72+17C>G rs1031878905
NM_003000.3(SDHB):c.72+18A>C
NM_003000.3(SDHB):c.72+19G>C rs1466555262
NM_003000.3(SDHB):c.72+7C>A rs1553179311
NM_003000.3(SDHB):c.72+7C>G
NM_003000.3(SDHB):c.72+7C>T rs1553179311
NM_003000.3(SDHB):c.72+8C>G rs1570963404
NM_003000.3(SDHB):c.72+8C>T rs1570963404
NM_003000.3(SDHB):c.723C>T (p.Tyr241=) rs878854583
NM_003000.3(SDHB):c.729C>T (p.Cys243=)
NM_003000.3(SDHB):c.73-10A>C rs376494419
NM_003000.3(SDHB):c.73-13T>C rs769480915
NM_003000.3(SDHB):c.73-13T>G rs769480915
NM_003000.3(SDHB):c.73-14T>A
NM_003000.3(SDHB):c.73-17A>C rs2101541691
NM_003000.3(SDHB):c.73-17del
NM_003000.3(SDHB):c.73-19G>A
NM_003000.3(SDHB):c.73-20T>G
NM_003000.3(SDHB):c.73-7A>C rs770733541
NM_003000.3(SDHB):c.732C>T (p.His244=) rs1570944785
NM_003000.3(SDHB):c.738C>T (p.Ile246=) rs1476198465
NM_003000.3(SDHB):c.753G>A (p.Arg251=) rs201094649
NM_003000.3(SDHB):c.756C>T (p.Thr252=)
NM_003000.3(SDHB):c.759T>C (p.Cys253=) rs2101513546
NM_003000.3(SDHB):c.762T>C (p.Pro254=) rs2101513519
NM_003000.3(SDHB):c.765+14G>C rs1334964001
NM_003000.3(SDHB):c.765+16G>A rs1233279059
NM_003000.3(SDHB):c.765+16G>T
NM_003000.3(SDHB):c.765+20C>T
NM_003000.3(SDHB):c.765+8G>A rs1553177265
NM_003000.3(SDHB):c.765+8G>T rs1553177265
NM_003000.3(SDHB):c.765+9G>A
NM_003000.3(SDHB):c.765+9G>T
NM_003000.3(SDHB):c.766-11C>G
NM_003000.3(SDHB):c.766-14T>C
NM_003000.3(SDHB):c.766-18C>G
NM_003000.3(SDHB):c.766-18C>T
NM_003000.3(SDHB):c.766-19del rs1553176985
NM_003000.3(SDHB):c.766-21_766-19del
NM_003000.3(SDHB):c.766-4C>A
NM_003000.3(SDHB):c.766-5T>C rs2101508325
NM_003000.3(SDHB):c.766-6T>C rs1553176984
NM_003000.3(SDHB):c.768T>C (p.Gly256=) rs1060505017
NM_003000.3(SDHB):c.777A>G (p.Pro259=)
NM_003000.3(SDHB):c.777A>T (p.Pro259=) rs2101508283
NM_003000.3(SDHB):c.786T>C (p.Ala262=) rs768118230
NM_003000.3(SDHB):c.789T>C (p.Ile263=) rs1395418494
NM_003000.3(SDHB):c.798C>T (p.Ile266=) rs760042733
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003000.3(SDHB):c.816C>G (p.Thr272=) rs1454454086
NM_003000.3(SDHB):c.819T>C (p.Tyr273=)
NM_003000.3(SDHB):c.837A>G (p.Ser279=) rs770120161
NM_003000.3(SDHB):c.90G>A (p.Gln30=)
NM_003000.3(SDHB):c.93A>T (p.Thr31=) rs2101541592
NM_003000.3(SDHB):c.96T>C (p.Ala32=)
NM_003000.3(SDHB):c.96T>G (p.Ala32=) rs1484330671
NM_003000.3(SDHB):c.9G>A (p.Ala3=) rs1350879010
NM_003000.3(SDHB):c.9G>C (p.Ala3=) rs1350879010
NM_003001.5(SDHC):c.102C>T (p.Ala34=) rs1571851493
NM_003001.5(SDHC):c.108A>G (p.Glu36=) rs2102307691
NM_003001.5(SDHC):c.10C>T (p.Leu4=)
NM_003001.5(SDHC):c.120G>C (p.Arg40=) rs36097930
NM_003001.5(SDHC):c.12G>A (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.12G>T (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.132G>A (p.Lys44=) rs2102307834
NM_003001.5(SDHC):c.135T>C (p.Asn45=) rs2102307847
NM_003001.5(SDHC):c.154C>T (p.Leu52=)
NM_003001.5(SDHC):c.156G>A (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.156G>C (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.162C>A (p.Pro54=) rs374450282
NM_003001.5(SDHC):c.165C>T (p.His55=) rs786202080
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
NM_003001.5(SDHC):c.179+10_179+19del rs2102308128
NM_003001.5(SDHC):c.179+10del
NM_003001.5(SDHC):c.179+12T>C
NM_003001.5(SDHC):c.179+17G>C rs2102308146
NM_003001.5(SDHC):c.179+20C>A rs2102308154
NM_003001.5(SDHC):c.179+20C>G
NM_003001.5(SDHC):c.179+8A>C rs2102308122
NM_003001.5(SDHC):c.179+9G>A rs1558167376
NM_003001.5(SDHC):c.180-10T>C rs2102335974
NM_003001.5(SDHC):c.180-10T>G
NM_003001.5(SDHC):c.180-11T>G rs201473466
NM_003001.5(SDHC):c.180-12G>A
NM_003001.5(SDHC):c.180-13T>C
NM_003001.5(SDHC):c.180-15T>A rs2102335958
NM_003001.5(SDHC):c.180-16G>A
NM_003001.5(SDHC):c.180-17T>C
NM_003001.5(SDHC):c.180-19T>C
NM_003001.5(SDHC):c.180-4A>G
NM_003001.5(SDHC):c.180-9T>C rs2102335976
NM_003001.5(SDHC):c.18G>C (p.Leu6=) rs1571828901
NM_003001.5(SDHC):c.20+10G>A rs1060504224
NM_003001.5(SDHC):c.20+10_20+11insCG rs2102271943
NM_003001.5(SDHC):c.20+11_20+12insTT
NM_003001.5(SDHC):c.20+13G>A
NM_003001.5(SDHC):c.20+14G>A
NM_003001.5(SDHC):c.20+15A>C
NM_003001.5(SDHC):c.20+16C>A rs2102272025
NM_003001.5(SDHC):c.20+17T>A rs2102272030
NM_003001.5(SDHC):c.20+18G>A rs2102272035
NM_003001.5(SDHC):c.20+7T>G rs1553260599
NM_003001.5(SDHC):c.20+8C>A rs773661299
NM_003001.5(SDHC):c.20+9A>C rs1271741954
NM_003001.5(SDHC):c.20+9A>G
NM_003001.5(SDHC):c.21-10T>C rs771805280
NM_003001.5(SDHC):c.21-4G>A
NM_003001.5(SDHC):c.21-6T>C rs779721144
NM_003001.5(SDHC):c.21-7C>T
NM_003001.5(SDHC):c.21-8T>C rs1571843525
NM_003001.5(SDHC):c.21-9A>G rs2102295295
NM_003001.5(SDHC):c.21-9A>T rs2102295295
NM_003001.5(SDHC):c.210C>T (p.Cys70=) rs2102336228
NM_003001.5(SDHC):c.219C>T (p.Gly73=) rs752049668
NM_003001.5(SDHC):c.222T>C (p.Thr74=)
NM_003001.5(SDHC):c.232T>C (p.Leu78=) rs1553264225
NM_003001.5(SDHC):c.237T>C (p.Ser79=)
NM_003001.5(SDHC):c.241+12T>C rs2102336458
NM_003001.5(SDHC):c.241+13_241+14del rs2102336452
NM_003001.5(SDHC):c.241+14T>C rs2102336463
NM_003001.5(SDHC):c.241+15T>C
NM_003001.5(SDHC):c.241+17T>C
NM_003001.5(SDHC):c.241+18T>A rs2102336473
NM_003001.5(SDHC):c.241+19A>G
NM_003001.5(SDHC):c.241+20C>A
NM_003001.5(SDHC):c.241+20C>G
NM_003001.5(SDHC):c.241+3A>G rs1413662099
NM_003001.5(SDHC):c.241+7A>C
NM_003001.5(SDHC):c.241+7_241+10del rs1571869349
NM_003001.5(SDHC):c.241+9_241+10del rs1571869349
NM_003001.5(SDHC):c.242-13G>C
NM_003001.5(SDHC):c.242-20C>G
NM_003001.5(SDHC):c.242-6C>T rs1571889931
NM_003001.5(SDHC):c.243G>A (p.Gly81=)
NM_003001.5(SDHC):c.243G>C (p.Gly81=) rs1314593051
NM_003001.5(SDHC):c.243G>T (p.Gly81=) rs1314593051
NM_003001.5(SDHC):c.246C>G (p.Val82=) rs2102370246
NM_003001.5(SDHC):c.24C>T (p.His8=) rs761381438
NM_003001.5(SDHC):c.252T>C (p.Leu84=)
NM_003001.5(SDHC):c.255T>C (p.Phe85=) rs2102370353
NM_003001.5(SDHC):c.258C>T (p.Gly86=)
NM_003001.5(SDHC):c.267C>T (p.Ala89=)
NM_003001.5(SDHC):c.268C>T (p.Leu90=)
NM_003001.5(SDHC):c.276C>G (p.Leu92=)
NM_003001.5(SDHC):c.279T>G (p.Pro93=) rs2102370578
NM_003001.5(SDHC):c.282G>T (p.Gly94=) rs536197277
NM_003001.5(SDHC):c.291G>A (p.Glu97=)
NM_003001.5(SDHC):c.294T>C (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.294T>G (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.297T>C (p.Tyr99=) rs2102370693
NM_003001.5(SDHC):c.30T>C (p.Gly10=) rs1170595036
NM_003001.5(SDHC):c.30T>G (p.Gly10=)
NM_003001.5(SDHC):c.315C>G (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.315C>T (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.318G>A (p.Leu106=) rs1166833684
NM_003001.5(SDHC):c.322C>T (p.Leu108=) rs2102370841
NM_003001.5(SDHC):c.333A>G (p.Ala111=) rs950221552
NM_003001.5(SDHC):c.334C>T (p.Leu112=) rs1329297940
NM_003001.5(SDHC):c.345A>G (p.Thr115=) rs2102371010
NM_003001.5(SDHC):c.348T>C (p.Ala116=)
NM_003001.5(SDHC):c.351G>A (p.Lys117=) rs1571890344
NM_003001.5(SDHC):c.357A>G (p.Ala119=) rs2102371098
NM_003001.5(SDHC):c.360T>C (p.Leu120=) rs2102371131
NM_003001.5(SDHC):c.363C>A (p.Val121=)
NM_003001.5(SDHC):c.363C>T (p.Val121=) rs1273832397
NM_003001.5(SDHC):c.36T>C (p.His12=)
NM_003001.5(SDHC):c.372C>A (p.Leu124=) rs766007157
NM_003001.5(SDHC):c.381T>C (p.His127=) rs867566924
NM_003001.5(SDHC):c.384C>T (p.Thr128=) rs1553265821
NM_003001.5(SDHC):c.390T>C (p.Asn130=) rs2102371399
NM_003001.5(SDHC):c.393G>A (p.Gly131=)
NM_003001.5(SDHC):c.393G>T (p.Gly131=)
NM_003001.5(SDHC):c.396C>A (p.Ile132=)
NM_003001.5(SDHC):c.399A>G (p.Arg133=)
NM_003001.5(SDHC):c.402C>T (p.His134=) rs754213041
NM_003001.5(SDHC):c.405+11T>G rs2102371559
NM_003001.5(SDHC):c.405+12C>A
NM_003001.5(SDHC):c.405+13G>T
NM_003001.5(SDHC):c.405+15G>A rs768628609
NM_003001.5(SDHC):c.405+16A>C rs2102371614
NM_003001.5(SDHC):c.405+18T>C
NM_003001.5(SDHC):c.405+7T>A
NM_003001.5(SDHC):c.406-10T>C rs1060504225
NM_003001.5(SDHC):c.406-10T>G rs1060504225
NM_003001.5(SDHC):c.406-4A>G
NM_003001.5(SDHC):c.406-5C>T rs1442391429
NM_003001.5(SDHC):c.406-5del
NM_003001.5(SDHC):c.406-7T>C rs1672546572
NM_003001.5(SDHC):c.406-8G>A rs747093483
NM_003001.5(SDHC):c.406-8G>T rs747093483
NM_003001.5(SDHC):c.417A>G (p.Leu139=)
NM_003001.5(SDHC):c.423A>G (p.Lys141=) rs2102385065
NM_003001.5(SDHC):c.426C>T (p.Gly142=)
NM_003001.5(SDHC):c.435T>A (p.Ile145=)
NM_003001.5(SDHC):c.438C>A (p.Pro146=) rs1418513098
NM_003001.5(SDHC):c.441G>A (p.Gln147=)
NM_003001.5(SDHC):c.442C>T (p.Leu148=)
NM_003001.5(SDHC):c.444A>G (p.Leu148=) rs377230417
NM_003001.5(SDHC):c.453T>C (p.Ser151=) rs2102385466
NM_003001.5(SDHC):c.456A>C (p.Gly152=) rs886251473
NM_003001.5(SDHC):c.45A>T (p.Arg15=) rs1007336839
NM_003001.5(SDHC):c.462T>C (p.Val154=) rs2102385569
NM_003001.5(SDHC):c.465C>G (p.Val155=) rs1060504223
NM_003001.5(SDHC):c.466C>T (p.Leu156=) rs1553266500
NM_003001.5(SDHC):c.474T>G (p.Leu158=) rs2102385657
NM_003001.5(SDHC):c.477T>A (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.477T>C (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
NM_003001.5(SDHC):c.486C>T (p.Ser162=) rs2102385816
NM_003001.5(SDHC):c.48C>G (p.Ala16=) rs1553261765
NM_003001.5(SDHC):c.495G>A (p.Gly165=) rs2102385878
NM_003001.5(SDHC):c.495G>T (p.Gly165=) rs2102385878
NM_003001.5(SDHC):c.496C>T (p.Leu166=) rs2102385898
NM_003001.5(SDHC):c.504C>T (p.Ala168=) rs1571899229
NM_003001.5(SDHC):c.54T>C (p.Phe18=) rs200761743
NM_003001.5(SDHC):c.60T>G (p.Pro20=) rs2102295634
NM_003001.5(SDHC):c.63G>A (p.Gln21=)
NM_003001.5(SDHC):c.66C>G (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.66C>T (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.6T>A (p.Ala2=)
NM_003001.5(SDHC):c.6T>C (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.6T>G (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.77+9C>T rs2102295766
NM_003001.5(SDHC):c.78-15C>T
NM_003001.5(SDHC):c.78-16T>C rs2102307516
NM_003001.5(SDHC):c.78-17G>A
NM_003001.5(SDHC):c.78-19C>A rs144770080
NM_003001.5(SDHC):c.78-9T>G rs2102307530
NM_003001.5(SDHC):c.81T>C (p.Ala27=) rs876659297
NM_003001.5(SDHC):c.96C>T (p.Thr32=) rs1671145722
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
NM_003002.4(SDHD):c.114A>G (p.Arg38=) rs1555186794
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
NM_003002.4(SDHD):c.126A>G (p.Glu42=) rs2135267333
NM_003002.4(SDHD):c.12C>T (p.Leu4=) rs2135264636
NM_003002.4(SDHD):c.138G>A (p.Val46=) rs2135267384
NM_003002.4(SDHD):c.150C>T (p.His50=)
NM_003002.4(SDHD):c.165C>T (p.His55=) rs1592779061
NM_003002.4(SDHD):c.169+11T>C
NM_003002.4(SDHD):c.169+16C>T
NM_003002.4(SDHD):c.169+20G>T
NM_003002.4(SDHD):c.169+7TC[2]
NM_003002.4(SDHD):c.169+8C>T rs1592779083
NM_003002.4(SDHD):c.170-10C>A
NM_003002.4(SDHD):c.170-10C>T rs952278127
NM_003002.4(SDHD):c.170-11C>T rs2135269102
NM_003002.4(SDHD):c.170-13G>A rs1447202823
NM_003002.4(SDHD):c.170-14G>C rs919536825
NM_003002.4(SDHD):c.170-18del rs766754598
NM_003002.4(SDHD):c.170-20G>A rs2135269091
NM_003002.4(SDHD):c.170-20G>C
NM_003002.4(SDHD):c.170-20G>T rs2135269091
NM_003002.4(SDHD):c.170-8T>A rs2135269114
NM_003002.4(SDHD):c.170-9T>C rs1592780269
NM_003002.4(SDHD):c.171T>C (p.Ser57=) rs2135269133
NM_003002.4(SDHD):c.177C>T (p.Ser59=) rs764869982
NM_003002.4(SDHD):c.183T>C (p.Ala61=) rs2135269188
NM_003002.4(SDHD):c.186A>T (p.Ala62=) rs11547899
NM_003002.4(SDHD):c.189T>C (p.Ser63=)
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
NM_003002.4(SDHD):c.192C>G (p.Leu64=) rs1592780337
NM_003002.4(SDHD):c.195C>T (p.His65=) rs11547893
NM_003002.4(SDHD):c.19C>T (p.Leu7=) rs1337542194
NM_003002.4(SDHD):c.201T>C (p.Thr67=) rs2135269268
NM_003002.4(SDHD):c.207G>A (p.Glu69=) rs1592780392
NM_003002.4(SDHD):c.213T>G (p.Val71=)
NM_003002.4(SDHD):c.216C>G (p.Val72=) rs1592780438
NM_003002.4(SDHD):c.216C>T (p.Val72=)
NM_003002.4(SDHD):c.219T>C (p.Ser73=) rs2135269373
NM_003002.4(SDHD):c.21G>T (p.Leu7=)
NM_003002.4(SDHD):c.223T>C (p.Leu75=) rs2135269384
NM_003002.4(SDHD):c.246T>A (p.Ala82=)
NM_003002.4(SDHD):c.246T>C (p.Ala82=) rs2135269508
NM_003002.4(SDHD):c.246T>G (p.Ala82=)
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.270G>C (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.270G>T (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.276C>T (p.Asp92=) rs2135269643
NM_003002.4(SDHD):c.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.27C>G (p.Ala9=)
NM_003002.4(SDHD):c.27C>T (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.282C>G (p.Ser94=) rs781182616
NM_003002.4(SDHD):c.283C>T (p.Leu95=) rs1865691704
NM_003002.4(SDHD):c.288T>C (p.Ala96=) rs2135269735
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
NM_003002.4(SDHD):c.291A>C (p.Ala97=) rs1592780682
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
NM_003002.4(SDHD):c.314+13A>G
NM_003002.4(SDHD):c.314+15T>A
NM_003002.4(SDHD):c.314+17C>T
NM_003002.4(SDHD):c.314+18A>C
NM_003002.4(SDHD):c.314+19A>G
NM_003002.4(SDHD):c.314+20del rs755475561
NM_003002.4(SDHD):c.314+7A>T rs2135269897
NM_003002.4(SDHD):c.314+8T>C rs199645781
NM_003002.4(SDHD):c.314+8T>G rs199645781
NM_003002.4(SDHD):c.315-12C>A
NM_003002.4(SDHD):c.315-12dup
NM_003002.4(SDHD):c.315-16T>G
NM_003002.4(SDHD):c.315-18T>A rs1260988180
NM_003002.4(SDHD):c.315-4T>G rs944726340
NM_003002.4(SDHD):c.315-8T>C rs1592786101
NM_003002.4(SDHD):c.315-9T>G rs911853469
NM_003002.4(SDHD):c.318C>A (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.318C>T (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
NM_003002.4(SDHD):c.348T>C (p.His116=) rs2135277453
NM_003002.4(SDHD):c.351G>T (p.Gly117=) rs1566702512
NM_003002.4(SDHD):c.354T>C (p.Asp118=) rs911663426
NM_003002.4(SDHD):c.357C>T (p.Ala119=) rs2135277494
NM_003002.4(SDHD):c.363G>A (p.Gln121=) rs2135277509
NM_003002.4(SDHD):c.369T>C (p.Ala123=) rs747779190
NM_003002.4(SDHD):c.36T>G (p.Gly12=) rs1592777328
NM_003002.4(SDHD):c.372C>G (p.Ala124=) rs2135277535
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
NM_003002.4(SDHD):c.396A>C (p.Ser132=) rs2135277619
NM_003002.4(SDHD):c.39C>T (p.Ala13=) rs1566690237
NM_003002.4(SDHD):c.405C>T (p.Thr135=) rs1555187606
NM_003002.4(SDHD):c.40C>T (p.Leu14=) rs1060503772
NM_003002.4(SDHD):c.411T>C (p.Ala137=) rs1298909305
NM_003002.4(SDHD):c.414G>A (p.Gly138=) rs1174448545
NM_003002.4(SDHD):c.429C>T (p.Asn143=) rs1036199125
NM_003002.4(SDHD):c.42A>G (p.Leu14=) rs878854593
NM_003002.4(SDHD):c.42A>T (p.Leu14=)
NM_003002.4(SDHD):c.450C>T (p.Cys150=) rs201337439
NM_003002.4(SDHD):c.45A>T (p.Gly15=) rs2135264801
NM_003002.4(SDHD):c.466C>T (p.Leu156=) rs2135277839
NM_003002.4(SDHD):c.468G>A (p.Leu156=) rs2135277845
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
NM_003002.4(SDHD):c.479G>A (p.Ter160=) rs201372601
NM_003002.4(SDHD):c.48C>T (p.Gly16=) rs1555186688
NM_003002.4(SDHD):c.52+10C>G rs2135264901
NM_003002.4(SDHD):c.52+11T>A
NM_003002.4(SDHD):c.52+12T>C rs1865622422
NM_003002.4(SDHD):c.52+13C>T
NM_003002.4(SDHD):c.52+15C>T rs1486681280
NM_003002.4(SDHD):c.52+17C>G
NM_003002.4(SDHD):c.52+17C>T rs2135264969
NM_003002.4(SDHD):c.52+18C>T
NM_003002.4(SDHD):c.52+20T>C
NM_003002.4(SDHD):c.52+6G>A rs1416678757
NM_003002.4(SDHD):c.52+7G>C rs2135264872
NM_003002.4(SDHD):c.52+8dup rs2135264855
NM_003002.4(SDHD):c.53-12C>G rs2135266862
NM_003002.4(SDHD):c.53-12C>T rs2135266862
NM_003002.4(SDHD):c.53-13A>G
NM_003002.4(SDHD):c.53-14G>A
NM_003002.4(SDHD):c.53-15T>C
NM_003002.4(SDHD):c.53-17A>G rs1166658454
NM_003002.4(SDHD):c.53-18T>C
NM_003002.4(SDHD):c.53-20C>T
NM_003002.4(SDHD):c.53-5C>T rs913670110
NM_003002.4(SDHD):c.53-6C>T rs757454290
NM_003002.4(SDHD):c.53-7T>C
NM_003002.4(SDHD):c.53-8_53-7del rs765322445
NM_003002.4(SDHD):c.57G>A (p.Leu19=) rs560625389
NM_003002.4(SDHD):c.58T>C (p.Leu20=) rs1298878168
NM_003002.4(SDHD):c.60G>A (p.Leu20=) rs2135266996
NM_003002.4(SDHD):c.69T>A (p.Thr23=) rs1350100098
NM_003002.4(SDHD):c.69T>G (p.Thr23=) rs1350100098
NM_003002.4(SDHD):c.6G>A (p.Ala2=) rs1592777160
NM_003002.4(SDHD):c.72A>C (p.Pro24=) rs1413100881
NM_003002.4(SDHD):c.75G>A (p.Val25=)
NM_003002.4(SDHD):c.78C>T (p.Val26=)
NM_003002.4(SDHD):c.84T>C (p.Pro28=) rs2135267119
NM_003002.4(SDHD):c.90T>C (p.His30=)
NM_003002.4(SDHD):c.93C>T (p.Ile31=) rs766096986
NM_003002.4(SDHD):c.99A>G (p.Ala33=) rs2135267182
NM_003002.4(SDHD):c.9T>A (p.Val3=) rs1555186657
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1005G>A (p.Lys335=) rs1735559685
NM_004168.4(SDHA):c.1008C>T (p.Asp336=)
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)
NM_004168.4(SDHA):c.1014G>T (p.Ala338=) rs201341132
NM_004168.4(SDHA):c.1020A>G (p.Arg340=) rs2126577996
NM_004168.4(SDHA):c.1026G>A (p.Val342=) rs1060505004
NM_004168.4(SDHA):c.1029G>A (p.Val343=)
NM_004168.4(SDHA):c.102C>T (p.His34=) rs2126539644
NM_004168.4(SDHA):c.1038C>A (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1038C>T (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1044T>A (p.Thr348=) rs1553999055
NM_004168.4(SDHA):c.1045C>T (p.Leu349=)
NM_004168.4(SDHA):c.1053C>A (p.Ile351=) rs2126578352
NM_004168.4(SDHA):c.1056A>C (p.Arg352=) rs779804839
NM_004168.4(SDHA):c.1059A>G (p.Glu353=)
NM_004168.4(SDHA):c.1064+5GT[3] rs2126578488
NM_004168.4(SDHA):c.1064+7G>A
NM_004168.4(SDHA):c.1064+7G>T rs2126578502
NM_004168.4(SDHA):c.1064+9G>A
NM_004168.4(SDHA):c.1065-10G>C rs2126584071
NM_004168.4(SDHA):c.1065-12C>G
NM_004168.4(SDHA):c.1065-12_1065-11del
NM_004168.4(SDHA):c.1065-17G>C rs1268945057
NM_004168.4(SDHA):c.1065-17_1065-15dup
NM_004168.4(SDHA):c.1065-18G>C
NM_004168.4(SDHA):c.1065-19T>C rs1735682737
NM_004168.4(SDHA):c.1065-20A>G
NM_004168.4(SDHA):c.1065-5A>G rs1579406152
NM_004168.4(SDHA):c.1065-6T>C rs1579406151
NM_004168.4(SDHA):c.1071T>C (p.Cys357=) rs1553999410
NM_004168.4(SDHA):c.1074C>T (p.Gly358=) rs1421396049
NM_004168.4(SDHA):c.1083A>G (p.Lys361=) rs1579406203
NM_004168.4(SDHA):c.1086T>C (p.Asp362=) rs2126584236
NM_004168.4(SDHA):c.108T>C (p.Thr36=) rs1301747916
NM_004168.4(SDHA):c.1092C>G (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1096C>T (p.Leu366=) rs1305056679
NM_004168.4(SDHA):c.1098G>C (p.Leu366=) rs1346189100
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)
NM_004168.4(SDHA):c.1104G>A (p.Leu368=) rs2126584401
NM_004168.4(SDHA):c.1111C>T (p.Leu371=) rs1735690368
NM_004168.4(SDHA):c.1113A>G (p.Leu371=) rs2126584480
NM_004168.4(SDHA):c.1116T>G (p.Pro372=) rs1735691014
NM_004168.4(SDHA):c.1119A>C (p.Pro373=) rs1428505412
NM_004168.4(SDHA):c.1119A>G (p.Pro373=) rs1428505412
NM_004168.4(SDHA):c.111T>C (p.Val37=)
NM_004168.4(SDHA):c.1122G>A (p.Glu374=)
NM_004168.4(SDHA):c.1126C>T (p.Leu376=) rs1579406388
NM_004168.4(SDHA):c.1131C>T (p.Ala377=) rs2126584661
NM_004168.4(SDHA):c.1134G>C (p.Thr378=) rs370002515
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)
NM_004168.4(SDHA):c.1140G>A (p.Leu380=) rs146348714
NM_004168.4(SDHA):c.1143T>C (p.Pro381=) rs1735695108
NM_004168.4(SDHA):c.114T>C (p.Asp38=)
NM_004168.4(SDHA):c.1152A>T (p.Ser384=) rs2126584840
NM_004168.4(SDHA):c.1158A>C (p.Thr386=) rs2126584886
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)
NM_004168.4(SDHA):c.1167C>T (p.Ile389=) rs2126584963
NM_004168.4(SDHA):c.1173T>C (p.Ala391=) rs1579406627
NM_004168.4(SDHA):c.1176C>A (p.Gly392=) rs1041950
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1185C>G (p.Val395=) rs2126585130
NM_004168.4(SDHA):c.1197G>T (p.Pro399=) rs771919335
NM_004168.4(SDHA):c.1200C>T (p.Ile400=) rs748383004
NM_004168.4(SDHA):c.1203T>C (p.Pro401=) rs1553999484
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)
NM_004168.4(SDHA):c.1206C>G (p.Val402=)
NM_004168.4(SDHA):c.1206C>T (p.Val402=) rs1183961449
NM_004168.4(SDHA):c.1209C>A (p.Leu403=) rs2126585389
NM_004168.4(SDHA):c.1209C>T (p.Leu403=)
NM_004168.4(SDHA):c.120C>T (p.Asn40=) rs1579379803
NM_004168.4(SDHA):c.1212C>A (p.Pro404=) rs1579406812
NM_004168.4(SDHA):c.1221T>C (p.His407=) rs2126585516
NM_004168.4(SDHA):c.1227C>T (p.Asn409=) rs2126585562
NM_004168.4(SDHA):c.1233C>A (p.Gly411=) rs376530094
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)
NM_004168.4(SDHA):c.123G>A (p.Lys41=) rs1553997185
NM_004168.4(SDHA):c.1245C>G (p.Thr415=) rs2126585715
NM_004168.4(SDHA):c.1257G>T (p.Gly419=) rs753410011
NM_004168.4(SDHA):c.1260+10C>T rs1300688046
NM_004168.4(SDHA):c.1260+12G>A
NM_004168.4(SDHA):c.1260+13G>C
NM_004168.4(SDHA):c.1260+14C>T rs1237313111
NM_004168.4(SDHA):c.1260+16C>T rs2126585898
NM_004168.4(SDHA):c.1260+17C>T rs750384205
NM_004168.4(SDHA):c.1260+18T>A
NM_004168.4(SDHA):c.1260+18T>C
NM_004168.4(SDHA):c.1260+19C>T rs1735711604
NM_004168.4(SDHA):c.1260+8T>A rs1325588204
NM_004168.4(SDHA):c.1260+8T>G
NM_004168.4(SDHA):c.1260+9G>T rs1060505003
NM_004168.4(SDHA):c.1261-10C>G rs1579409244
NM_004168.4(SDHA):c.1261-10C>T rs1579409244
NM_004168.4(SDHA):c.1261-10del
NM_004168.4(SDHA):c.1261-11C>A
NM_004168.4(SDHA):c.1261-11C>G rs2126589164
NM_004168.4(SDHA):c.1261-14C>T
NM_004168.4(SDHA):c.1261-16A>G
NM_004168.4(SDHA):c.1261-16A>T rs1170006255
NM_004168.4(SDHA):c.1261-17A>T
NM_004168.4(SDHA):c.1261-19G>T
NM_004168.4(SDHA):c.1261-3C>T rs1553999705
NM_004168.4(SDHA):c.1261-4A>G rs1553999703
NM_004168.4(SDHA):c.1261-4A>T rs1553999703
NM_004168.4(SDHA):c.1261-6_1261-5insGAA
NM_004168.4(SDHA):c.1261-7T>A rs1423583851
NM_004168.4(SDHA):c.1261-7T>G rs1423583851
NM_004168.4(SDHA):c.1261-9T>C rs1553999698
NM_004168.4(SDHA):c.1263C>T (p.Val421=) rs2126589252
NM_004168.4(SDHA):c.126G>A (p.Arg42=) rs2126539845
NM_004168.4(SDHA):c.1278T>C (p.Asn426=) rs2126589395
NM_004168.4(SDHA):c.1290G>A (p.Gln430=) rs772728779
NM_004168.4(SDHA):c.1293T>C (p.Ile431=) rs1553999716
NM_004168.4(SDHA):c.1296G>A (p.Val432=)
NM_004168.4(SDHA):c.1296G>T (p.Val432=) rs1223308548
NM_004168.4(SDHA):c.12C>T (p.Val4=) rs749406988
NM_004168.4(SDHA):c.1302C>T (p.Gly434=) rs1579409486
NM_004168.4(SDHA):c.1305G>A (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.1305G>C (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.1320G>A (p.Glu440=) rs2126589773
NM_004168.4(SDHA):c.1323C>G (p.Ala441=) rs751561561
NM_004168.4(SDHA):c.1326C>T (p.Ala442=) rs2126589832
NM_004168.4(SDHA):c.1329T>C (p.Cys443=) rs2126589870
NM_004168.4(SDHA):c.132T>A (p.Ser44=)
NM_004168.4(SDHA):c.1332C>G (p.Ala444=) rs1060505011
NM_004168.4(SDHA):c.1335G>C (p.Ser445=)
NM_004168.4(SDHA):c.1335G>T (p.Ser445=) rs200223188
NM_004168.4(SDHA):c.1341T>C (p.His447=) rs2126589989
NM_004168.4(SDHA):c.1344T>A (p.Gly448=)
NM_004168.4(SDHA):c.1344T>C (p.Gly448=) rs551497992
NM_004168.4(SDHA):c.1353C>T (p.Arg451=) rs555342133
NM_004168.4(SDHA):c.1359G>A (p.Gly453=)
NM_004168.4(SDHA):c.1365C>T (p.Asn455=) rs1579409853
NM_004168.4(SDHA):c.1368G>T (p.Ser456=)
NM_004168.4(SDHA):c.1371C>G (p.Leu457=) rs75091805
NM_004168.4(SDHA):c.1377C>T (p.Asp459=) rs1579409909
NM_004168.4(SDHA):c.1378C>T (p.Leu460=) rs760686493
NM_004168.4(SDHA):c.1380G>A (p.Leu460=)
NM_004168.4(SDHA):c.1386C>G (p.Val462=)
NM_004168.4(SDHA):c.1389T>C (p.Phe463=) rs2126590369
NM_004168.4(SDHA):c.138A>G (p.Lys46=)
NM_004168.4(SDHA):c.1392T>G (p.Gly464=) rs1579409940
NM_004168.4(SDHA):c.1393C>A (p.Arg465=) rs752461029
NM_004168.4(SDHA):c.1398A>C (p.Ala466=) rs878854626
NM_004168.4(SDHA):c.13C>A (p.Arg5=) rs770866830
NM_004168.4(SDHA):c.141T>C (p.Val47=) rs748490907
NM_004168.4(SDHA):c.141T>G (p.Val47=) rs748490907
NM_004168.4(SDHA):c.1422A>G (p.Ser474=) rs201868424
NM_004168.4(SDHA):c.1432+10T>C
NM_004168.4(SDHA):c.1432+11T>A
NM_004168.4(SDHA):c.1432+15C>T rs2126590874
NM_004168.4(SDHA):c.1432+20G>A
NM_004168.4(SDHA):c.1432+7G>A rs760526397
NM_004168.4(SDHA):c.1432+7G>T rs760526397
NM_004168.4(SDHA):c.1432+9T>G rs1735803426
NM_004168.4(SDHA):c.1432+9_1432+11del rs2126590852
NM_004168.4(SDHA):c.1433-10T>G
NM_004168.4(SDHA):c.1433-11T>C
NM_004168.4(SDHA):c.1433-11T>G rs1194122879
NM_004168.4(SDHA):c.1433-13T>C
NM_004168.4(SDHA):c.1433-14T>A rs2126602367
NM_004168.4(SDHA):c.1433-14T>C rs2126602367
NM_004168.4(SDHA):c.1433-14T>G rs2126602367
NM_004168.4(SDHA):c.1433-15T>A
NM_004168.4(SDHA):c.1433-16C>G
NM_004168.4(SDHA):c.1433-18A>G
NM_004168.4(SDHA):c.1433-19T>C rs2126602340
NM_004168.4(SDHA):c.1433-4T>G rs2126602419
NM_004168.4(SDHA):c.1433-5T>A rs2126602416
NM_004168.4(SDHA):c.1433-7G>A
NM_004168.4(SDHA):c.1433-8T>G rs2126602401
NM_004168.4(SDHA):c.1433-9T>C rs1579417426
NM_004168.4(SDHA):c.1443C>A (p.Val481=) rs751871185
NM_004168.4(SDHA):c.1443C>T (p.Val481=) rs751871185
NM_004168.4(SDHA):c.1446T>G (p.Pro482=) rs767646499
NM_004168.4(SDHA):c.144A>G (p.Ser48=)
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)
NM_004168.4(SDHA):c.1458A>G (p.Pro486=) rs2126602561
NM_004168.4(SDHA):c.1479C>T (p.Val493=) rs2126602710
NM_004168.4(SDHA):c.147T>C (p.Asp49=) rs2126539950
NM_004168.4(SDHA):c.1498A>C (p.Arg500=) rs2126602800
NM_004168.4(SDHA):c.150+12C>G rs773966272
NM_004168.4(SDHA):c.150+14T>C
NM_004168.4(SDHA):c.150+14T>G
NM_004168.4(SDHA):c.150+15T>C rs1734837973
NM_004168.4(SDHA):c.150+18G>A
NM_004168.4(SDHA):c.150+21_150+25del
NM_004168.4(SDHA):c.150+7T>G rs1734837376
NM_004168.4(SDHA):c.150+9A>G rs1553997201
NM_004168.4(SDHA):c.1500A>G (p.Arg500=)
NM_004168.4(SDHA):c.1506T>C (p.Ala502=) rs1364448678
NM_004168.4(SDHA):c.1509T>C (p.Asp503=) rs2126602858
NM_004168.4(SDHA):c.151-16A>C
NM_004168.4(SDHA):c.151-17G>A
NM_004168.4(SDHA):c.151-18T>G
NM_004168.4(SDHA):c.151-20G>C rs2126542228
NM_004168.4(SDHA):c.151-20G>T rs2126542228
NM_004168.4(SDHA):c.151-6T>C
NM_004168.4(SDHA):c.151-8T>C
NM_004168.4(SDHA):c.151-9_151-7del rs2126542243
NM_004168.4(SDHA):c.1531C>T (p.Leu511=) rs768257880
NM_004168.4(SDHA):c.1533G>A (p.Leu511=) rs876658698
NM_004168.4(SDHA):c.1548G>A (p.Gln516=) rs2126603098
NM_004168.4(SDHA):c.1551+11G>C
NM_004168.4(SDHA):c.1551+12G>A
NM_004168.4(SDHA):c.1551+14C>T
NM_004168.4(SDHA):c.1551+16C>G
NM_004168.4(SDHA):c.1551+18C>A
NM_004168.4(SDHA):c.1551+18C>T rs2126603212
NM_004168.4(SDHA):c.1551+7G>A rs760796714
NM_004168.4(SDHA):c.1551+9C>T rs2126603158
NM_004168.4(SDHA):c.1552-10T>C
NM_004168.4(SDHA):c.1552-12T>C rs2126631871
NM_004168.4(SDHA):c.1552-17A>T
NM_004168.4(SDHA):c.1552-18T>A
NM_004168.4(SDHA):c.1552-18T>G rs2126631828
NM_004168.4(SDHA):c.1552-20A>C rs1378314484
NM_004168.4(SDHA):c.1552-20A>G rs1378314484
NM_004168.4(SDHA):c.1552-4A>C
NM_004168.4(SDHA):c.1552-6C>T rs2126631902
NM_004168.4(SDHA):c.1552-7G>C rs1351792129
NM_004168.4(SDHA):c.1552-7G>T rs1351792129
NM_004168.4(SDHA):c.1560A>G (p.Gln520=) rs1261025402
NM_004168.4(SDHA):c.1569T>A (p.Ala523=)
NM_004168.4(SDHA):c.1572C>G (p.Ala524=) rs185679709
NM_004168.4(SDHA):c.1578C>T (p.Phe526=) rs2126632042
NM_004168.4(SDHA):c.1581T>C (p.Arg527=) rs2126632074
NM_004168.4(SDHA):c.1584G>C (p.Val528=)
NM_004168.4(SDHA):c.1584G>T (p.Val528=)
NM_004168.4(SDHA):c.1593G>A (p.Val531=) rs2126632110
NM_004168.4(SDHA):c.1599A>G (p.Gln533=) rs1407806818
NM_004168.4(SDHA):c.159T>C (p.Ala53=)
NM_004168.4(SDHA):c.15G>C (p.Arg5=)
NM_004168.4(SDHA):c.1602A>G (p.Glu534=) rs2126632157
NM_004168.4(SDHA):c.1614A>G (p.Lys538=) rs1554001847
NM_004168.4(SDHA):c.1617C>T (p.Ile539=) rs2126632215
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)
NM_004168.4(SDHA):c.1626C>T (p.Leu542=) rs1269358534
NM_004168.4(SDHA):c.1638A>C (p.Leu546=) rs1041963
NM_004168.4(SDHA):c.1641G>A (p.Lys547=)
NM_004168.4(SDHA):c.1645C>T (p.Leu549=)
NM_004168.4(SDHA):c.1650G>A (p.Lys550=) rs1359705251
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)
NM_004168.4(SDHA):c.1660C>A (p.Arg554=) rs9809219
NM_004168.4(SDHA):c.1663+10C>G
NM_004168.4(SDHA):c.1663+11A>C rs1037190778
NM_004168.4(SDHA):c.1663+12G>A
NM_004168.4(SDHA):c.1663+16G>C
NM_004168.4(SDHA):c.1663+16G>T
NM_004168.4(SDHA):c.1663+17C>T rs759291109
NM_004168.4(SDHA):c.1663+7A>G rs1579438260
NM_004168.4(SDHA):c.1664-10G>T rs1736810726
NM_004168.4(SDHA):c.1664-19G>A rs2126633052
NM_004168.4(SDHA):c.1664-4C>A rs774876028
NM_004168.4(SDHA):c.1664-4C>G rs774876028
NM_004168.4(SDHA):c.1664-4C>T
NM_004168.4(SDHA):c.1664-5C>G rs1211852182
NM_004168.4(SDHA):c.1664-9dup rs2126633086
NM_004168.4(SDHA):c.1671C>G (p.Val557=)
NM_004168.4(SDHA):c.1677C>T (p.Asn559=) rs2126633167
NM_004168.4(SDHA):c.1680G>T (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1684C>T (p.Leu562=) rs1561010740
NM_004168.4(SDHA):c.1686G>C (p.Leu562=) rs1579438828
NM_004168.4(SDHA):c.1686G>T (p.Leu562=) rs1579438828
NM_004168.4(SDHA):c.1689G>A (p.Val563=) rs2126633222
NM_004168.4(SDHA):c.168A>G (p.Pro56=) rs745316978
NM_004168.4(SDHA):c.1692G>A (p.Glu564=) rs368388954
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)
NM_004168.4(SDHA):c.1725G>T (p.Ala575=) rs758252610
NM_004168.4(SDHA):c.1728G>A (p.Leu576=) rs1736819188
NM_004168.4(SDHA):c.1737C>A (p.Ile579=)
NM_004168.4(SDHA):c.1746A>T (p.Ala582=)
NM_004168.4(SDHA):c.1758G>A (p.Lys586=) rs1554001953
NM_004168.4(SDHA):c.1761G>A (p.Glu587=) rs2126633619
NM_004168.4(SDHA):c.1764A>G (p.Ser588=) rs2126633642
NM_004168.4(SDHA):c.1765C>A (p.Arg589=) rs387906780
NM_004168.4(SDHA):c.1770C>A (p.Gly590=) rs142457602
NM_004168.4(SDHA):c.1770C>G (p.Gly590=) rs142457602
NM_004168.4(SDHA):c.1773G>C (p.Ala591=) rs555028212
NM_004168.4(SDHA):c.1773G>T (p.Ala591=)
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=) rs1226155499
NM_004168.4(SDHA):c.1794+10C>T rs1060505010
NM_004168.4(SDHA):c.1794+11T>C
NM_004168.4(SDHA):c.1794+14C>G rs1412436993
NM_004168.4(SDHA):c.1794+15C>T
NM_004168.4(SDHA):c.1794+18G>T
NM_004168.4(SDHA):c.1794+20C>A rs2126633960
NM_004168.4(SDHA):c.1794+6C>T
NM_004168.4(SDHA):c.1794+6_1794+7dup
NM_004168.4(SDHA):c.1794+7C>T
NM_004168.4(SDHA):c.1794+8T>G rs1050394308
NM_004168.4(SDHA):c.1795-5C>T rs1169912956
NM_004168.4(SDHA):c.1797G>A (p.Val599=) rs1060505012
NM_004168.4(SDHA):c.1806T>C (p.Asp602=) rs1554002427
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=) rs1436919553
NM_004168.4(SDHA):c.1827C>T (p.Pro609=) rs1060505006
NM_004168.4(SDHA):c.1842G>A (p.Gln614=) rs2126641413
NM_004168.4(SDHA):c.1845G>A (p.Lys615=) rs1442827207
NM_004168.4(SDHA):c.1857G>A (p.Glu619=) rs1247081812
NM_004168.4(SDHA):c.1875C>T (p.His625=) rs1579445214
NM_004168.4(SDHA):c.1878C>T (p.Thr626=) rs1579445226
NM_004168.4(SDHA):c.1884C>G (p.Ser628=) rs1224468457
NM_004168.4(SDHA):c.1884C>T (p.Ser628=) rs1224468457
NM_004168.4(SDHA):c.1896T>C (p.Val632=) rs1554002492
NM_004168.4(SDHA):c.189T>C (p.Asp63=) rs2126542493
NM_004168.4(SDHA):c.18C>A (p.Gly6=) rs775847689
NM_004168.4(SDHA):c.1902T>G (p.Thr634=) rs2126641691
NM_004168.4(SDHA):c.1908+10G>A rs1579445450
NM_004168.4(SDHA):c.1908+8T>G rs2126641731
NM_004168.4(SDHA):c.1908+9G>A rs767578208
NM_004168.4(SDHA):c.1909-11T>G rs2126645679
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1909-15A>C rs1189118840
NM_004168.4(SDHA):c.1909-15A>G
NM_004168.4(SDHA):c.1909-16G>A
NM_004168.4(SDHA):c.1909-16_1909-13del rs2126645630
NM_004168.4(SDHA):c.1909-19A>T
NM_004168.4(SDHA):c.1909-20C>A rs1737178548
NM_004168.4(SDHA):c.1909-6T>C
NM_004168.4(SDHA):c.1909-9C>G
NM_004168.4(SDHA):c.1909-9C>T rs2126645687
NM_004168.4(SDHA):c.1909-9_1909-7del
NM_004168.4(SDHA):c.1914T>C (p.Thr638=) rs2126645757
NM_004168.4(SDHA):c.1920A>G (p.Glu640=) rs2126645771
NM_004168.4(SDHA):c.1926A>G (p.Arg642=) rs1554002873
NM_004168.4(SDHA):c.192A>G (p.Ala64=)
NM_004168.4(SDHA):c.1935C>A (p.Ile645=) rs762128553
NM_004168.4(SDHA):c.1935C>T (p.Ile645=) rs762128553
NM_004168.4(SDHA):c.1938C>T (p.Asp646=)
NM_004168.4(SDHA):c.1953G>A (p.Glu651=) rs1579448683
NM_004168.4(SDHA):c.1956T>C (p.Ala652=)
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)
NM_004168.4(SDHA):c.195G>A (p.Val65=) rs2126542556
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.1986C>G (p.Arg662=) rs762372686
NM_004168.4(SDHA):c.1986C>T (p.Arg662=)
NM_004168.4(SDHA):c.1989C>G (p.Ser663=) rs1554002913
NM_004168.4(SDHA):c.1989C>T (p.Ser663=) rs1554002913
NM_004168.4(SDHA):c.210A>G (p.Gly70=)
NM_004168.4(SDHA):c.216A>G (p.Ala72=) rs1734887844
NM_004168.4(SDHA):c.220T>C (p.Leu74=)
NM_004168.4(SDHA):c.240T>C (p.Leu80=) rs2126542884
NM_004168.4(SDHA):c.243T>C (p.Ser81=)
NM_004168.4(SDHA):c.249A>C (p.Ala83=)
NM_004168.4(SDHA):c.249A>G (p.Ala83=) rs1560986107
NM_004168.4(SDHA):c.24G>C (p.Ser8=) rs1060505007
NM_004168.4(SDHA):c.252G>A (p.Gly84=) rs753293451
NM_004168.4(SDHA):c.252G>C (p.Gly84=) rs753293451
NM_004168.4(SDHA):c.261A>C (p.Thr87=)
NM_004168.4(SDHA):c.261A>G (p.Thr87=) rs2126543070
NM_004168.4(SDHA):c.264A>G (p.Ala88=)
NM_004168.4(SDHA):c.273C>A (p.Thr91=) rs2126543162
NM_004168.4(SDHA):c.276G>A (p.Lys92=) rs375298039
NM_004168.4(SDHA):c.279G>A (p.Leu93=) rs1579381802
NM_004168.4(SDHA):c.27G>A (p.Arg9=) rs2126522501
NM_004168.4(SDHA):c.285T>C (p.Pro95=) rs2126543225
NM_004168.4(SDHA):c.28C>T (p.Leu10=) rs879099314
NM_004168.4(SDHA):c.291G>A (p.Arg97=)
NM_004168.4(SDHA):c.297C>T (p.His99=)
NM_004168.4(SDHA):c.303T>C (p.Val101=)
NM_004168.4(SDHA):c.303T>G (p.Val101=) rs2126543357
NM_004168.4(SDHA):c.306A>G (p.Ala102=) rs2126543388
NM_004168.4(SDHA):c.306A>T (p.Ala102=) rs2126543388
NM_004168.4(SDHA):c.312+11G>C rs2126543478
NM_004168.4(SDHA):c.312+12G>T
NM_004168.4(SDHA):c.312+15C>A rs1180146041
NM_004168.4(SDHA):c.312+16C>G
NM_004168.4(SDHA):c.312+17C>T rs1734898561
NM_004168.4(SDHA):c.312+18C>T
NM_004168.4(SDHA):c.312+19A>G
NM_004168.4(SDHA):c.312+19A>T
NM_004168.4(SDHA):c.312+20C>A rs111533078
NM_004168.4(SDHA):c.312+7G>C rs2126543454
NM_004168.4(SDHA):c.312+7G>T rs2126543454
NM_004168.4(SDHA):c.313-10G>A rs1579383848
NM_004168.4(SDHA):c.313-18A>C rs1579383789
NM_004168.4(SDHA):c.313-3C>T rs1553997584
NM_004168.4(SDHA):c.313-4C>G rs1368657380
NM_004168.4(SDHA):c.313-4C>T rs1368657380
NM_004168.4(SDHA):c.313-6T>C rs1579383890
NM_004168.4(SDHA):c.318A>T (p.Gly106=)
NM_004168.4(SDHA):c.31C>T (p.Leu11=)
NM_004168.4(SDHA):c.336G>A (p.Gly112=)
NM_004168.4(SDHA):c.336G>C (p.Gly112=) rs375645919
NM_004168.4(SDHA):c.339C>T (p.Asn113=)
NM_004168.4(SDHA):c.33G>T (p.Leu11=) rs1139423
NM_004168.4(SDHA):c.345G>A (p.Glu115=) rs368286780
NM_004168.4(SDHA):c.348G>A (p.Glu116=) rs2126546824
NM_004168.4(SDHA):c.351C>T (p.Asp117=) rs1579384072
NM_004168.4(SDHA):c.354C>T (p.Asn118=) rs923803277
NM_004168.4(SDHA):c.387C>T (p.Gly129=)
NM_004168.4(SDHA):c.39T>C (p.Ala13=) rs2126522607
NM_004168.4(SDHA):c.40C>A (p.Arg14=) rs1192077362
NM_004168.4(SDHA):c.414C>T (p.Ala138=) rs1219265195
NM_004168.4(SDHA):c.420C>T (p.His140=) rs747232441
NM_004168.4(SDHA):c.429G>T (p.Thr143=) rs906281170
NM_004168.4(SDHA):c.441C>A (p.Pro147=) rs201453889
NM_004168.4(SDHA):c.444C>G (p.Ala148=) rs367618662
NM_004168.4(SDHA):c.447C>A (p.Ala149=)
NM_004168.4(SDHA):c.447C>G (p.Ala149=) rs752187837
NM_004168.4(SDHA):c.450G>A (p.Val150=) rs1734965281
NM_004168.4(SDHA):c.450G>C (p.Val150=)
NM_004168.4(SDHA):c.453C>G (p.Val151=) rs138917116
NM_004168.4(SDHA):c.453C>T (p.Val151=) rs138917116
NM_004168.4(SDHA):c.456+14G>A
NM_004168.4(SDHA):c.456+15G>A rs2126547940
NM_004168.4(SDHA):c.456+15G>T
NM_004168.4(SDHA):c.456+17T>G
NM_004168.4(SDHA):c.456+18C>T
NM_004168.4(SDHA):c.456+19T>C rs2126547979
NM_004168.4(SDHA):c.456+20G>A
NM_004168.4(SDHA):c.456+8G>A rs2126547879
NM_004168.4(SDHA):c.456+9C>G rs200565489
NM_004168.4(SDHA):c.457-10T>C
NM_004168.4(SDHA):c.457-11A>T
NM_004168.4(SDHA):c.457-15T>C
NM_004168.4(SDHA):c.457-17G>T
NM_004168.4(SDHA):c.457-18_457-3dup rs1421256041
NM_004168.4(SDHA):c.457-9C>T rs2126549145
NM_004168.4(SDHA):c.459A>G (p.Leu153=) rs2126549200
NM_004168.4(SDHA):c.45C>T (p.Arg15=) rs1060505002
NM_004168.4(SDHA):c.468T>C (p.Tyr156=) rs989318548
NM_004168.4(SDHA):c.46C>T (p.Leu16=) rs1579369903
NM_004168.4(SDHA):c.477G>T (p.Pro159=) rs771741537
NM_004168.4(SDHA):c.480T>C (p.Phe160=) rs1060503711
NM_004168.4(SDHA):c.483C>T (p.Ser161=) rs2126549418
NM_004168.4(SDHA):c.486A>G (p.Arg162=) rs1479127918
NM_004168.4(SDHA):c.48G>A (p.Leu16=) rs2126522691
NM_004168.4(SDHA):c.48G>C (p.Leu16=) rs2126522691
NM_004168.4(SDHA):c.492A>G (p.Glu164=)
NM_004168.4(SDHA):c.498G>A (p.Gly166=)
NM_004168.4(SDHA):c.513T>A (p.Arg171=)
NM_004168.4(SDHA):c.525A>G (p.Gly175=) rs2126549734
NM_004168.4(SDHA):c.52C>T (p.Leu18=)
NM_004168.4(SDHA):c.531C>T (p.Ser177=) rs756351128
NM_004168.4(SDHA):c.537G>A (p.Lys179=) rs1207914111
NM_004168.4(SDHA):c.540T>C (p.Phe180=) rs2126549842
NM_004168.4(SDHA):c.54G>A (p.Leu18=)
NM_004168.4(SDHA):c.54G>T (p.Leu18=)
NM_004168.4(SDHA):c.562C>A (p.Arg188=) rs553257776
NM_004168.4(SDHA):c.570C>T (p.Cys190=) rs1060505008
NM_004168.4(SDHA):c.573T>C (p.Cys191=) rs765111856
NM_004168.4(SDHA):c.57C>T (p.Ala19=)
NM_004168.4(SDHA):c.582T>C (p.Asp194=)
NM_004168.4(SDHA):c.585G>A (p.Arg195=) rs766339992
NM_004168.4(SDHA):c.588T>C (p.Thr196=) rs1278276778
NM_004168.4(SDHA):c.591C>G (p.Gly197=)
NM_004168.4(SDHA):c.594C>T (p.His198=) rs1579386061
NM_004168.4(SDHA):c.597G>T (p.Ser199=) rs141874250
NM_004168.4(SDHA):c.603G>A (p.Leu201=) rs2126550482
NM_004168.4(SDHA):c.606C>T (p.His202=)
NM_004168.4(SDHA):c.60G>A (p.Lys20=)
NM_004168.4(SDHA):c.612A>G (p.Leu204=) rs1735001336
NM_004168.4(SDHA):c.615T>C (p.Tyr205=) rs876658486
NM_004168.4(SDHA):c.621+11C>A rs2126550755
NM_004168.4(SDHA):c.621+11C>T
NM_004168.4(SDHA):c.621+12C>A
NM_004168.4(SDHA):c.621+12C>T
NM_004168.4(SDHA):c.621+13C>T rs2126550780
NM_004168.4(SDHA):c.621+15G>T
NM_004168.4(SDHA):c.621+17C>T rs2126550811
NM_004168.4(SDHA):c.621+18C>G
NM_004168.4(SDHA):c.621+18C>T rs1735004595
NM_004168.4(SDHA):c.621+19A>T rs772849135
NM_004168.4(SDHA):c.621+20C>T
NM_004168.4(SDHA):c.621+9G>C
NM_004168.4(SDHA):c.622-4T>A
NM_004168.4(SDHA):c.622-4T>C rs1579390820
NM_004168.4(SDHA):c.622-4T>G
NM_004168.4(SDHA):c.622-5T>C rs878854634
NM_004168.4(SDHA):c.622-7C>G
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004168.4(SDHA):c.622-7_622-4del rs2126557982
NM_004168.4(SDHA):c.622-8del rs777777373
NM_004168.4(SDHA):c.63+10T>C rs2126522948
NM_004168.4(SDHA):c.63+10T>G
NM_004168.4(SDHA):c.63+13C>G
NM_004168.4(SDHA):c.63+14G>A rs2126522961
NM_004168.4(SDHA):c.63+15C>A
NM_004168.4(SDHA):c.63+16G>A
NM_004168.4(SDHA):c.63+17G>T
NM_004168.4(SDHA):c.63+18A>G rs2126522991
NM_004168.4(SDHA):c.63+19C>A rs1553996384
NM_004168.4(SDHA):c.63+20C>T rs1734507324
NM_004168.4(SDHA):c.63+8C>A rs766358430
NM_004168.4(SDHA):c.63+9G>A rs751401688
NM_004168.4(SDHA):c.630A>T (p.Arg210=) rs1579390913
NM_004168.4(SDHA):c.63G>T (p.Ala21=) rs587781942
NM_004168.4(SDHA):c.64-10G>A rs1553997159
NM_004168.4(SDHA):c.64-10G>C rs1553997159
NM_004168.4(SDHA):c.64-11T>C rs2126539331
NM_004168.4(SDHA):c.64-12C>G
NM_004168.4(SDHA):c.64-13T>G rs2126539312
NM_004168.4(SDHA):c.64-13_64-5del rs1382759501
NM_004168.4(SDHA):c.64-17G>A
NM_004168.4(SDHA):c.64-4C>T
NM_004168.4(SDHA):c.64-7T>C rs1579379588
NM_004168.4(SDHA):c.64-8G>T
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)
NM_004168.4(SDHA):c.663C>G (p.Ala221=) rs1579391069
NM_004168.4(SDHA):c.663C>T (p.Ala221=) rs1579391069
NM_004168.4(SDHA):c.666G>A (p.Leu222=)
NM_004168.4(SDHA):c.672C>T (p.Leu224=) rs2126558458
NM_004168.4(SDHA):c.673C>T (p.Leu225=) rs1579391116
NM_004168.4(SDHA):c.675G>A (p.Leu225=) rs1367248054
NM_004168.4(SDHA):c.675G>C (p.Leu225=) rs1367248054
NM_004168.4(SDHA):c.687G>C (p.Gly229=) rs775359678
NM_004168.4(SDHA):c.693C>T (p.Cys231=)
NM_004168.4(SDHA):c.696T>G (p.Arg232=)
NM_004168.4(SDHA):c.6G>C (p.Ser2=) rs751383247
NM_004168.4(SDHA):c.6G>T (p.Ser2=) rs751383247
NM_004168.4(SDHA):c.711G>T (p.Leu237=)
NM_004168.4(SDHA):c.714C>T (p.Cys238=)
NM_004168.4(SDHA):c.717A>T (p.Ile239=)
NM_004168.4(SDHA):c.720G>A (p.Glu240=) rs1579391431
NM_004168.4(SDHA):c.726G>A (p.Gly242=) rs2126559012
NM_004168.4(SDHA):c.726G>T (p.Gly242=)
NM_004168.4(SDHA):c.729C>G (p.Ser243=)
NM_004168.4(SDHA):c.72A>C (p.Thr24=) rs2126539424
NM_004168.4(SDHA):c.72A>G (p.Thr24=) rs2126539424
NM_004168.4(SDHA):c.738C>T (p.Arg246=) rs2126559157
NM_004168.4(SDHA):c.747A>G (p.Ala249=)
NM_004168.4(SDHA):c.750G>A (p.Lys250=)
NM_004168.4(SDHA):c.753C>T (p.Asn251=) rs1126411
NM_004168.4(SDHA):c.75G>A (p.Val25=) rs774378936
NM_004168.4(SDHA):c.768A>C (p.Thr256=) rs2126559341
NM_004168.4(SDHA):c.768A>T (p.Thr256=) rs2126559341
NM_004168.4(SDHA):c.770+10T>G rs1579391739
NM_004168.4(SDHA):c.770+7A>C rs770997653
NM_004168.4(SDHA):c.771-4C>G rs1360537551
NM_004168.4(SDHA):c.771-5T>C
NM_004168.4(SDHA):c.774C>A (p.Gly258=) rs2126567779
NM_004168.4(SDHA):c.774C>T (p.Gly258=) rs2126567779
NM_004168.4(SDHA):c.780G>A (p.Gly260=)
NM_004168.4(SDHA):c.783C>T (p.Arg261=) rs1037927856
NM_004168.4(SDHA):c.786C>T (p.Thr262=) rs1560992315
NM_004168.4(SDHA):c.789C>T (p.Tyr263=) rs1553998616
NM_004168.4(SDHA):c.792C>T (p.Phe264=) rs1237513803
NM_004168.4(SDHA):c.795C>T (p.Ser265=) rs1579397171
NM_004168.4(SDHA):c.798C>T (p.Cys266=)
NM_004168.4(SDHA):c.807C>A (p.Ala269=)
NM_004168.4(SDHA):c.810C>T (p.His270=) rs1199457341
NM_004168.4(SDHA):c.813C>A (p.Thr271=)
NM_004168.4(SDHA):c.819T>G (p.Thr273=)
NM_004168.4(SDHA):c.81A>G (p.Gln27=) rs759523671
NM_004168.4(SDHA):c.822C>A (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.828C>A (p.Gly276=) rs754910183
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.834C>T (p.Ala278=) rs1553998649
NM_004168.4(SDHA):c.846G>A (p.Arg282=) rs1579397464
NM_004168.4(SDHA):c.84A>G (p.Thr28=) rs1553997162
NM_004168.4(SDHA):c.861C>T (p.Cys287=)
NM_004168.4(SDHA):c.867C>T (p.Asp289=)
NM_004168.4(SDHA):c.868C>T (p.Leu290=) rs2126568639
NM_004168.4(SDHA):c.873G>A (p.Glu291=) rs570393010
NM_004168.4(SDHA):c.882G>A (p.Gln294=)
NM_004168.4(SDHA):c.888C>T (p.His296=) rs1553998666
NM_004168.4(SDHA):c.891T>G (p.Pro297=) rs1126417
NM_004168.4(SDHA):c.895+9G>A rs1579397653
NM_004168.4(SDHA):c.897C>T (p.Gly299=) rs1484385016
NM_004168.4(SDHA):c.90C>G (p.Thr30=) rs2126539545
NM_004168.4(SDHA):c.918C>A (p.Leu306=) rs138828792
NM_004168.4(SDHA):c.918C>T (p.Leu306=) rs138828792
NM_004168.4(SDHA):c.921T>C (p.Ile307=)
NM_004168.4(SDHA):c.930A>C (p.Gly310=) rs1579402124
NM_004168.4(SDHA):c.933T>C (p.Cys311=) rs764026731
NM_004168.4(SDHA):c.936T>G (p.Arg312=) rs2126577072
NM_004168.4(SDHA):c.939A>C (p.Gly313=) rs1579402154
NM_004168.4(SDHA):c.942G>A (p.Glu314=) rs1553998977
NM_004168.4(SDHA):c.957T>A (p.Ile319=)
NM_004168.4(SDHA):c.969C>A (p.Gly323=) rs142849100
NM_004168.4(SDHA):c.969C>G (p.Gly323=)
NM_004168.4(SDHA):c.96T>C (p.Gly32=) rs2126539605
NM_004168.4(SDHA):c.978T>C (p.Phe326=)
NM_004168.4(SDHA):c.984G>A (p.Glu328=) rs1735555420
NM_004168.4(SDHA):c.993C>T (p.Ala331=) rs1424925197
NM_004168.4(SDHA):c.999C>A (p.Val333=)
NM_004168.4(SDHA):c.999C>G (p.Val333=) rs149556555
NM_004168.4(SDHA):c.999C>T (p.Val333=) rs149556555
NM_004168.4(SDHA):c.9G>A (p.Gly3=)
NM_004168.4(SDHA):c.9G>C (p.Gly3=) rs1252447154
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
NM_013335.4(GMPPA):c.1173C>T (p.Val391=)
NM_013335.4(GMPPA):c.117C>T (p.His39=)
NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)
NM_013335.4(GMPPA):c.243-17C>T
NM_013335.4(GMPPA):c.41-16C>T
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_013335.4(GMPPA):c.486C>T (p.His162=) rs36029384
NM_013335.4(GMPPA):c.490-16C>A rs995824237
NM_013335.4(GMPPA):c.490-18A>G
NM_013335.4(GMPPA):c.490-6C>T
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
NM_013335.4(GMPPA):c.621-9C>T
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
NM_013335.4(GMPPA):c.66T>C (p.Phe22=) rs1575219520
NM_013335.4(GMPPA):c.756-18C>A rs1694544584
NM_017841.4(SDHAF2):c.126T>C (p.Asp42=) rs1590764790
NM_017841.4(SDHAF2):c.12T>A (p.Ser4=) rs2135436188
NM_017841.4(SDHAF2):c.12T>C (p.Ser4=)
NM_017841.4(SDHAF2):c.132A>G (p.Gln44=) rs2134892277
NM_017841.4(SDHAF2):c.135G>A (p.Lys45=)
NM_017841.4(SDHAF2):c.138C>T (p.Asp46=) rs969049910
NM_017841.4(SDHAF2):c.153T>A (p.Pro51=)
NM_017841.4(SDHAF2):c.153T>G (p.Pro51=) rs769950627
NM_017841.4(SDHAF2):c.162A>G (p.Pro54=)
NM_017841.4(SDHAF2):c.171G>A (p.Glu57=) rs767436409
NM_017841.4(SDHAF2):c.180T>C (p.Asp60=) rs2134892368
NM_017841.4(SDHAF2):c.18G>A (p.Val6=) rs1590759621
NM_017841.4(SDHAF2):c.18G>C (p.Val6=)
NM_017841.4(SDHAF2):c.195C>T (p.Thr65=) rs2134892396
NM_017841.4(SDHAF2):c.198A>G (p.Lys66=) rs760482747
NM_017841.4(SDHAF2):c.216T>C (p.Tyr72=) rs778397152
NM_017841.4(SDHAF2):c.21C>T (p.Phe7=) rs892955355
NM_017841.4(SDHAF2):c.222C>T (p.Ser74=) rs749887667
NM_017841.4(SDHAF2):c.225A>G (p.Arg75=) rs2134892466
NM_017841.4(SDHAF2):c.228G>A (p.Lys76=) rs2134892475
NM_017841.4(SDHAF2):c.234A>G (p.Gly78=) rs2134892495
NM_017841.4(SDHAF2):c.249C>T (p.Cys83=) rs2134892531
NM_017841.4(SDHAF2):c.24G>T (p.Ser8=) rs764251580
NM_017841.4(SDHAF2):c.260+10T>C rs1590764949
NM_017841.4(SDHAF2):c.260+10T>G rs1590764949
NM_017841.4(SDHAF2):c.260+11A>C
NM_017841.4(SDHAF2):c.260+13G>A
NM_017841.4(SDHAF2):c.260+14A>T
NM_017841.4(SDHAF2):c.260+15G>A
NM_017841.4(SDHAF2):c.260+16T>C
NM_017841.4(SDHAF2):c.260+7G>C
NM_017841.4(SDHAF2):c.260+7G>T
NM_017841.4(SDHAF2):c.261-10T>C
NM_017841.4(SDHAF2):c.261-16T>C
NM_017841.4(SDHAF2):c.261-21_261-16del rs773213740
NM_017841.4(SDHAF2):c.261-8G>A rs779242759
NM_017841.4(SDHAF2):c.261-8G>C rs779242759
NM_017841.4(SDHAF2):c.261-9del rs1060504900
NM_017841.4(SDHAF2):c.264T>G (p.Leu88=) rs1554984669
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val) rs373951663
NM_017841.4(SDHAF2):c.270T>C (p.Ala90=)
NM_017841.4(SDHAF2):c.273A>G (p.Lys91=)
NM_017841.4(SDHAF2):c.288C>T (p.His96=) rs764919936
NM_017841.4(SDHAF2):c.294A>C (p.Thr98=) rs762441285
NM_017841.4(SDHAF2):c.30G>C (p.Ser10=) rs2135436336
NM_017841.4(SDHAF2):c.312C>A (p.Leu104=) rs1590765104
NM_017841.4(SDHAF2):c.324G>A (p.Leu108=) rs1426061764
NM_017841.4(SDHAF2):c.324G>C (p.Leu108=)
NM_017841.4(SDHAF2):c.327T>A (p.Ile109=) rs757670376
NM_017841.4(SDHAF2):c.33G>T (p.Ser11=)
NM_017841.4(SDHAF2):c.34C>T (p.Leu12=) rs2135436365
NM_017841.4(SDHAF2):c.354T>C (p.Ile118=) rs1590765153
NM_017841.4(SDHAF2):c.36+10G>C
NM_017841.4(SDHAF2):c.36+11A>C rs2135436466
NM_017841.4(SDHAF2):c.36+12G>A
NM_017841.4(SDHAF2):c.36+12G>C
NM_017841.4(SDHAF2):c.36+14A>G rs2135436481
NM_017841.4(SDHAF2):c.36+14A>T
NM_017841.4(SDHAF2):c.36+16G>A
NM_017841.4(SDHAF2):c.36+16G>T
NM_017841.4(SDHAF2):c.36+6GA[2] rs1157688980
NM_017841.4(SDHAF2):c.36+7A>G
NM_017841.4(SDHAF2):c.36+7_36+9del rs2135436444
NM_017841.4(SDHAF2):c.36+9A>T rs2135436453
NM_017841.4(SDHAF2):c.37-12T>C
NM_017841.4(SDHAF2):c.37-20T>C
NM_017841.4(SDHAF2):c.37-20T>G
NM_017841.4(SDHAF2):c.37-6T>C rs2134892037
NM_017841.4(SDHAF2):c.37-7A>G rs1554984610
NM_017841.4(SDHAF2):c.370+10A>G rs754379604
NM_017841.4(SDHAF2):c.370+10A>T
NM_017841.4(SDHAF2):c.370+12G>A rs886048415
NM_017841.4(SDHAF2):c.370+19A>C
NM_017841.4(SDHAF2):c.370+20G>T
NM_017841.4(SDHAF2):c.370+7G>C rs1590765180
NM_017841.4(SDHAF2):c.371-10T>C rs2134901887
NM_017841.4(SDHAF2):c.371-13T>A
NM_017841.4(SDHAF2):c.371-15_371-13del
NM_017841.4(SDHAF2):c.371-17C>G rs1404805808
NM_017841.4(SDHAF2):c.371-6T>C rs1467563046
NM_017841.4(SDHAF2):c.371-7C>G rs1277553449
NM_017841.4(SDHAF2):c.371-7C>T rs1277553449
NM_017841.4(SDHAF2):c.371-9C>G
NM_017841.4(SDHAF2):c.375T>C (p.Ala125=) rs1233830025
NM_017841.4(SDHAF2):c.378A>G (p.Lys126=)
NM_017841.4(SDHAF2):c.418C>T (p.Leu140=) rs2134902012
NM_017841.4(SDHAF2):c.420G>C (p.Leu140=) rs774723481
NM_017841.4(SDHAF2):c.421A>C (p.Arg141=) rs759780830
NM_017841.4(SDHAF2):c.432T>C (p.Ala144=)
NM_017841.4(SDHAF2):c.435A>G (p.Lys145=)
NM_017841.4(SDHAF2):c.453G>A (p.Gln151=) rs1271900425
NM_017841.4(SDHAF2):c.454A>C (p.Arg152=) rs1056273933
NM_017841.4(SDHAF2):c.456A>G (p.Arg152=) rs2134902088
NM_017841.4(SDHAF2):c.459G>C (p.Leu153=) rs757151603
NM_017841.4(SDHAF2):c.46C>T (p.Leu16=) rs1312422519
NM_017841.4(SDHAF2):c.471T>C (p.Asp157=)
NM_017841.4(SDHAF2):c.477G>A (p.Glu159=)
NM_017841.4(SDHAF2):c.483C>G (p.Leu161=) rs1862133729
NM_017841.4(SDHAF2):c.51A>C (p.Ser17=)
NM_017841.4(SDHAF2):c.51A>G (p.Ser17=) rs1590764718
NM_017841.4(SDHAF2):c.63A>T (p.Leu21=) rs191513932
NM_017841.4(SDHAF2):c.64T>C (p.Leu22=)
NM_017841.4(SDHAF2):c.66G>A (p.Leu22=) rs766468929
NM_017841.4(SDHAF2):c.69T>C (p.Ser23=)
NM_017841.4(SDHAF2):c.6G>T (p.Ala2=) rs747571875
NM_017841.4(SDHAF2):c.75G>A (p.Leu25=) rs2134892142
NM_017841.4(SDHAF2):c.90A>C (p.Ser30=)
NM_017841.4(SDHAF2):c.9G>A (p.Val3=) rs2135436159
NM_017841.4(SDHAF2):c.9G>C (p.Val3=)
NM_017849.4(TMEM127):c.102C>G (p.Ala34=) rs781643869
NM_017849.4(TMEM127):c.105G>T (p.Leu35=) rs2104308019
NM_017849.4(TMEM127):c.111C>T (p.Gly37=) rs1573977865
NM_017849.4(TMEM127):c.114C>T (p.Ala38=) rs771646015
NM_017849.4(TMEM127):c.120T>C (p.Ser40=)
NM_017849.4(TMEM127):c.123C>T (p.Ile41=) rs1573977845
NM_017849.4(TMEM127):c.126G>A (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>C (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>T (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.129G>T (p.Ala43=)
NM_017849.4(TMEM127):c.12C>G (p.Pro4=)
NM_017849.4(TMEM127):c.144C>T (p.Leu48=) rs1684391372
NM_017849.4(TMEM127):c.147C>G (p.Ala49=) rs750237643
NM_017849.4(TMEM127):c.153C>G (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.153C>T (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.165C>T (p.His55=)
NM_017849.4(TMEM127):c.168C>T (p.Ile56=) rs2104307611
NM_017849.4(TMEM127):c.171C>T (p.His57=) rs1573977723
NM_017849.4(TMEM127):c.177C>T (p.Gly59=)
NM_017849.4(TMEM127):c.186G>A (p.Ser62=) rs1573977697
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.198G>A (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.198G>C (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.201G>A (p.Gly67=) rs1684388788
NM_017849.4(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.4(TMEM127):c.213G>T (p.Val71=) rs777169152
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.222T>C (p.Tyr74=) rs2104307270
NM_017849.4(TMEM127):c.225G>A (p.Val75=) rs1358019729
NM_017849.4(TMEM127):c.231G>A (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.231G>C (p.Pro77=)
NM_017849.4(TMEM127):c.231G>T (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.234C>T (p.Asp78=) rs752578568
NM_017849.4(TMEM127):c.238C>T (p.Leu80=) rs1436382974
NM_017849.4(TMEM127):c.244+10C>G
NM_017849.4(TMEM127):c.244+13C>T
NM_017849.4(TMEM127):c.244+14G>C rs2104307098
NM_017849.4(TMEM127):c.244+15C>T
NM_017849.4(TMEM127):c.244+16G>C
NM_017849.4(TMEM127):c.244+20G>T rs779488412
NM_017849.4(TMEM127):c.244+7G>A
NM_017849.4(TMEM127):c.244+7G>T rs1573977543
NM_017849.4(TMEM127):c.244+8T>C
NM_017849.4(TMEM127):c.245-10C>T
NM_017849.4(TMEM127):c.245-12C>T
NM_017849.4(TMEM127):c.245-15G>C
NM_017849.4(TMEM127):c.245-16G>C rs368141539
NM_017849.4(TMEM127):c.245-20A>T
NM_017849.4(TMEM127):c.245-21_245-20dup
NM_017849.4(TMEM127):c.245-5T>G
NM_017849.4(TMEM127):c.245-7T>G
NM_017849.4(TMEM127):c.261C>G (p.Pro87=) rs1447112240
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
NM_017849.4(TMEM127):c.270G>A (p.Val90=) rs748896126
NM_017849.4(TMEM127):c.271C>T (p.Leu91=)
NM_017849.4(TMEM127):c.276C>G (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.276C>T (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.27G>C (p.Leu9=)
NM_017849.4(TMEM127):c.27G>T (p.Leu9=)
NM_017849.4(TMEM127):c.280C>A (p.Arg94=) rs121908824
NM_017849.4(TMEM127):c.282G>T (p.Arg94=)
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.291C>G (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.291C>T (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.294C>T (p.Ala98=) rs1684173194
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
NM_017849.4(TMEM127):c.309C>T (p.Gly103=)
NM_017849.4(TMEM127):c.30C>G (p.Pro10=) rs963234474
NM_017849.4(TMEM127):c.30C>T (p.Pro10=) rs963234474
NM_017849.4(TMEM127):c.312C>T (p.Ile104=) rs2104287512
NM_017849.4(TMEM127):c.315G>A (p.Leu105=) rs1440094325
NM_017849.4(TMEM127):c.321T>C (p.Ser107=) rs1553437007
NM_017849.4(TMEM127):c.327C>G (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.330T>A (p.Ala110=)
NM_017849.4(TMEM127):c.33C>A (p.Gly11=) rs1268280072
NM_017849.4(TMEM127):c.345C>G (p.Val115=)
NM_017849.4(TMEM127):c.345C>T (p.Val115=)
NM_017849.4(TMEM127):c.363T>C (p.Pro121=) rs1684170058
NM_017849.4(TMEM127):c.36G>T (p.Gly12=)
NM_017849.4(TMEM127):c.375C>T (p.Ile125=) rs1260610916
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
NM_017849.4(TMEM127):c.396C>T (p.Ala132=) rs2104286934
NM_017849.4(TMEM127):c.399T>C (p.His133=)
NM_017849.4(TMEM127):c.39C>A (p.Arg13=) rs1060503975
NM_017849.4(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.4(TMEM127):c.408G>A (p.Thr136=) rs143522428
NM_017849.4(TMEM127):c.409+11A>G
NM_017849.4(TMEM127):c.409+12G>A
NM_017849.4(TMEM127):c.409+16G>A
NM_017849.4(TMEM127):c.409+17C>G
NM_017849.4(TMEM127):c.409+8G>C rs749887924
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-10del rs1437132124
NM_017849.4(TMEM127):c.410-11_410-10del
NM_017849.4(TMEM127):c.410-12T>C
NM_017849.4(TMEM127):c.410-13C>T rs2104285437
NM_017849.4(TMEM127):c.410-14C>T rs1182765406
NM_017849.4(TMEM127):c.410-14_410-13dup
NM_017849.4(TMEM127):c.410-18del rs1444758693
NM_017849.4(TMEM127):c.410-19C>T
NM_017849.4(TMEM127):c.410-4C>G
NM_017849.4(TMEM127):c.410-6T>A
NM_017849.4(TMEM127):c.410-9G>A
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
NM_017849.4(TMEM127):c.414G>T (p.Leu138=) rs2104285371
NM_017849.4(TMEM127):c.450T>G (p.Ala150=) rs2104285217
NM_017849.4(TMEM127):c.453T>C (p.Ser151=)
NM_017849.4(TMEM127):c.456A>G (p.Glu152=) rs1573969367
NM_017849.4(TMEM127):c.459C>T (p.Leu153=)
NM_017849.4(TMEM127):c.463T>C (p.Leu155=) rs2104285151
NM_017849.4(TMEM127):c.468C>T (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.48G>A (p.Arg16=) rs2104308307
NM_017849.4(TMEM127):c.495T>C (p.His165=)
NM_017849.4(TMEM127):c.501C>G (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.501C>T (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.516C>T (p.Thr172=)
NM_017849.4(TMEM127):c.543A>G (p.Ala181=) rs2104284290
NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
NM_017849.4(TMEM127):c.555A>C (p.Gly185=) rs2104284151
NM_017849.4(TMEM127):c.561A>G (p.Ser187=)
NM_017849.4(TMEM127):c.564C>A (p.Ile188=)
NM_017849.4(TMEM127):c.564C>T (p.Ile188=) rs536921173
NM_017849.4(TMEM127):c.567G>A (p.Leu189=) rs776732082
NM_017849.4(TMEM127):c.57A>C (p.Gly19=) rs1269002433
NM_017849.4(TMEM127):c.57A>G (p.Gly19=) rs1269002433
NM_017849.4(TMEM127):c.582C>T (p.Asn194=) rs2104283819
NM_017849.4(TMEM127):c.588G>A (p.Leu196=) rs1684146150
NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)
NM_017849.4(TMEM127):c.600C>A (p.Pro200=) rs1060503974
NM_017849.4(TMEM127):c.603A>C (p.Thr201=) rs1270359170
NM_017849.4(TMEM127):c.609A>G (p.Glu203=) rs750072653
NM_017849.4(TMEM127):c.60C>T (p.Gly20=) rs768746694
NM_017849.4(TMEM127):c.615G>A (p.Glu205=)
NM_017849.4(TMEM127):c.618G>A (p.Gln206=)
NM_017849.4(TMEM127):c.627G>A (p.Glu209=) rs2104283355
NM_017849.4(TMEM127):c.630G>A (p.Leu210=) rs1573969028
NM_017849.4(TMEM127):c.630G>T (p.Leu210=)
NM_017849.4(TMEM127):c.633C>G (p.Leu211=) rs368792184
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.63C>T (p.Ser21=)
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
NM_017849.4(TMEM127):c.67C>T (p.Leu23=) rs749807415
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
NM_017849.4(TMEM127):c.690C>T (p.Phe230=) rs1684140585
NM_017849.4(TMEM127):c.699C>G (p.Pro233=)
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=) rs2104282548
NM_017849.4(TMEM127):c.711A>G (p.Thr237=) rs2104282530
NM_017849.4(TMEM127):c.714C>T (p.Pro238=)
NM_017849.4(TMEM127):c.72C>G (p.Pro24=) rs1684394336
NM_017849.4(TMEM127):c.81G>A (p.Pro27=) rs1553437743
NM_017849.4(TMEM127):c.87T>C (p.Arg29=)
NM_017849.4(TMEM127):c.96C>T (p.Ala32=)
NM_017849.4(TMEM127):c.99G>A (p.Ser33=) rs746237736
NM_021098.3(CACNA1H):c.1008C>G (p.Ala336=) rs1183381904
NM_021098.3(CACNA1H):c.1012A>G (p.Ile338Val) rs759899460
NM_021098.3(CACNA1H):c.1038G>T (p.Val346=)
NM_021098.3(CACNA1H):c.1084G>A (p.Asp362Asn) rs1567508639
NM_021098.3(CACNA1H):c.1095C>T (p.Gly365=) rs1269503775
NM_021098.3(CACNA1H):c.1119+7G>A rs772848426
NM_021098.3(CACNA1H):c.111A>G (p.Gly37=)
NM_021098.3(CACNA1H):c.1120-10G>A
NM_021098.3(CACNA1H):c.1120-11T>C
NM_021098.3(CACNA1H):c.1120-5C>G rs188397970
NM_021098.3(CACNA1H):c.1120-5C>T rs188397970
NM_021098.3(CACNA1H):c.1120-9C>T rs978309224
NM_021098.3(CACNA1H):c.1149C>T (p.Ile383=)
NM_021098.3(CACNA1H):c.1161C>T (p.Val387=) rs973334540
NM_021098.3(CACNA1H):c.1170C>T (p.Ala390=)
NM_021098.3(CACNA1H):c.1191C>A (p.Ile397=)
NM_021098.3(CACNA1H):c.1191C>T (p.Ile397=) rs765469156
NM_021098.3(CACNA1H):c.1201C>T (p.Leu401=)
NM_021098.3(CACNA1H):c.1203G>C (p.Leu401=) rs1157849968
NM_021098.3(CACNA1H):c.1206C>T (p.Leu402=) rs764371721
NM_021098.3(CACNA1H):c.1212+11G>A
NM_021098.3(CACNA1H):c.1213-10C>G rs373660548
NM_021098.3(CACNA1H):c.1213-10C>T
NM_021098.3(CACNA1H):c.1213-13G>C rs747424487
NM_021098.3(CACNA1H):c.1213-19C>G
NM_021098.3(CACNA1H):c.1213-4A>G
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=) rs58198225
NM_021098.3(CACNA1H):c.1260G>T (p.Thr420=)
NM_021098.3(CACNA1H):c.126G>C (p.Arg42=) rs2151603792
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp) rs988908130
NM_021098.3(CACNA1H):c.129G>C (p.Gly43=)
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
NM_021098.3(CACNA1H):c.1314A>G (p.Ala438=)
NM_021098.3(CACNA1H):c.1318C>T (p.His440Tyr)
NM_021098.3(CACNA1H):c.1330G>A (p.Asp444Asn)
NM_021098.3(CACNA1H):c.1338G>A (p.Thr446=)
NM_021098.3(CACNA1H):c.1338G>C (p.Thr446=)
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp)
NM_021098.3(CACNA1H):c.1344C>G (p.Ala448=)
NM_021098.3(CACNA1H):c.1350C>T (p.Phe450=)
NM_021098.3(CACNA1H):c.135G>A (p.Glu45=)
NM_021098.3(CACNA1H):c.1360G>C (p.Gly454Arg)
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr) rs948561024
NM_021098.3(CACNA1H):c.1426T>C (p.Leu476=)
NM_021098.3(CACNA1H):c.1438G>A (p.Ala480Thr)
NM_021098.3(CACNA1H):c.1464G>A (p.Lys488=) rs1967974749
NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu)
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp)
NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=)
NM_021098.3(CACNA1H):c.1506C>T (p.His502=) rs2141257419
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly) rs58593315
NM_021098.3(CACNA1H):c.1527G>A (p.Arg509=)
NM_021098.3(CACNA1H):c.153C>T (p.Ser51=) rs1179273024
NM_021098.3(CACNA1H):c.1554C>G (p.Val518=) rs763092079
NM_021098.3(CACNA1H):c.1560C>T (p.His520=)
NM_021098.3(CACNA1H):c.15A>C (p.Ala5=) rs1419005675
NM_021098.3(CACNA1H):c.1614G>A (p.Arg538=) rs1383742728
NM_021098.3(CACNA1H):c.1617C>A (p.Pro539=) rs914641626
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=) rs755913742
NM_021098.3(CACNA1H):c.1662C>T (p.Gly554=)
NM_021098.3(CACNA1H):c.1664C>A (p.Ala555Glu) rs9924241
NM_021098.3(CACNA1H):c.1665G>T (p.Ala555=) rs753841406
NM_021098.3(CACNA1H):c.1677A>G (p.Pro559=) rs2141259471
NM_021098.3(CACNA1H):c.168C>T (p.Ala56=) rs1961912470
NM_021098.3(CACNA1H):c.1695A>G (p.Gly565=) rs1272259379
NM_021098.3(CACNA1H):c.1696C>T (p.Pro566Ser) rs891039616
NM_021098.3(CACNA1H):c.1701C>G (p.Pro567=) rs763608019
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=) rs763608019
NM_021098.3(CACNA1H):c.1734C>T (p.Ala578=)
NM_021098.3(CACNA1H):c.1737C>G (p.Asp579Glu)
NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr)
NM_021098.3(CACNA1H):c.1767C>T (p.Ala589=)
NM_021098.3(CACNA1H):c.1797T>C (p.Ala599=) rs2141261175
NM_021098.3(CACNA1H):c.1845G>A (p.Thr615=) rs776887979
NM_021098.3(CACNA1H):c.1854C>G (p.Pro618=)
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=)
NM_021098.3(CACNA1H):c.1890C>A (p.Pro630=) rs755382298
NM_021098.3(CACNA1H):c.1902G>A (p.Gly634=)
NM_021098.3(CACNA1H):c.1950C>T (p.Ser650=)
NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=)
NM_021098.3(CACNA1H):c.1968C>G (p.Pro656=) rs1163122575
NM_021098.3(CACNA1H):c.2002+11_2002+14dup rs1489074089
NM_021098.3(CACNA1H):c.2002+12G>T rs1968075185
NM_021098.3(CACNA1H):c.2002+15C>T rs1043005077
NM_021098.3(CACNA1H):c.2002+18C>T
NM_021098.3(CACNA1H):c.2003-10T>C rs2141277371
NM_021098.3(CACNA1H):c.2003-12C>T rs1301686568
NM_021098.3(CACNA1H):c.2003-16G>A
NM_021098.3(CACNA1H):c.2028G>T (p.Leu676=)
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=) rs2141277940
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2064C>T (p.Pro688=) rs766428359
NM_021098.3(CACNA1H):c.2070G>A (p.Ala690=)
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val)
NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=)
NM_021098.3(CACNA1H):c.210C>G (p.Val70=) rs2151604551
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His) rs200422681
NM_021098.3(CACNA1H):c.2133G>A (p.Glu711=) rs560783884
NM_021098.3(CACNA1H):c.2148C>A (p.Gly716=) rs1275938567
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) rs538923520
NM_021098.3(CACNA1H):c.2161G>C (p.Asp721His)
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu) rs1346520324
NM_021098.3(CACNA1H):c.2193G>A (p.Thr731=) rs374261511
NM_021098.3(CACNA1H):c.21C>A (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.21C>G (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys)
NM_021098.3(CACNA1H):c.2332C>T (p.Leu778Phe)
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn) rs200687647
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile) rs200687647
NM_021098.3(CACNA1H):c.2379G>A (p.Lys793=) rs755411250
NM_021098.3(CACNA1H):c.2388C>T (p.Ser796=)
NM_021098.3(CACNA1H):c.2397C>T (p.Ile799=)
NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)
NM_021098.3(CACNA1H):c.2421G>C (p.Thr807=) rs761461229
NM_021098.3(CACNA1H):c.243C>T (p.Phe81=)
NM_021098.3(CACNA1H):c.2448G>A (p.Glu816=)
NM_021098.3(CACNA1H):c.2451+18C>T
NM_021098.3(CACNA1H):c.2451+18del
NM_021098.3(CACNA1H):c.2451+7G>T rs1202347048
NM_021098.3(CACNA1H):c.2452-16C>T
NM_021098.3(CACNA1H):c.2452-17C>A rs993654582
NM_021098.3(CACNA1H):c.2452-20G>C
NM_021098.3(CACNA1H):c.2452-6C>G rs766620515
NM_021098.3(CACNA1H):c.2452-8G>C
NM_021098.3(CACNA1H):c.2454C>G (p.Pro818=) rs545917540
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=) rs545917540
NM_021098.3(CACNA1H):c.2466T>G (p.Thr822=)
NM_021098.3(CACNA1H):c.246C>T (p.Cys82=) rs1596271172
NM_021098.3(CACNA1H):c.2472T>C (p.Ala824=) rs2141288261
NM_021098.3(CACNA1H):c.2481C>A (p.Ile827=)
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=) rs368916421
NM_021098.3(CACNA1H):c.249C>G (p.Leu83=)
NM_021098.3(CACNA1H):c.2532G>A (p.Leu844=)
NM_021098.3(CACNA1H):c.2538C>A (p.Ala846=) rs748509684
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=) rs748509684
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser) rs202019417
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=) rs1242284062
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=) rs377029056
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys) rs747426357
NM_021098.3(CACNA1H):c.2603+11A>T
NM_021098.3(CACNA1H):c.2603+13C>A
NM_021098.3(CACNA1H):c.2603+13C>T rs201131841
NM_021098.3(CACNA1H):c.2603+14C>G
NM_021098.3(CACNA1H):c.2603+14del
NM_021098.3(CACNA1H):c.2603+18C>T
NM_021098.3(CACNA1H):c.2603+19C>T
NM_021098.3(CACNA1H):c.2603+8C>G rs761715073
NM_021098.3(CACNA1H):c.2603+8C>T
NM_021098.3(CACNA1H):c.2603+9C>T
NM_021098.3(CACNA1H):c.2604-10C>T
NM_021098.3(CACNA1H):c.2604-13C>G rs961885924
NM_021098.3(CACNA1H):c.2604-4G>T
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) rs562148225
NM_021098.3(CACNA1H):c.2607C>T (p.Val869=) rs2141296467
NM_021098.3(CACNA1H):c.2628G>A (p.Ala876=)
NM_021098.3(CACNA1H):c.2649G>A (p.Leu883=) rs2141296783
NM_021098.3(CACNA1H):c.2662C>T (p.Leu888=)
NM_021098.3(CACNA1H):c.2676G>A (p.Leu892=) rs567419788
NM_021098.3(CACNA1H):c.270C>T (p.Arg90=) rs577235589
NM_021098.3(CACNA1H):c.2733C>T (p.Thr911=)
NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=)
NM_021098.3(CACNA1H):c.2760G>A (p.Thr920=) rs776215729
NM_021098.3(CACNA1H):c.2760G>T (p.Thr920=) rs776215729
NM_021098.3(CACNA1H):c.2766C>T (p.Leu922=) rs558892363
NM_021098.3(CACNA1H):c.2781C>T (p.Phe927=)
NM_021098.3(CACNA1H):c.2789+11C>T
NM_021098.3(CACNA1H):c.2789+14C>T rs58507166
NM_021098.3(CACNA1H):c.2790-18C>T
NM_021098.3(CACNA1H):c.285G>C (p.Arg95=)
NM_021098.3(CACNA1H):c.2862G>A (p.Arg954=)
NM_021098.3(CACNA1H):c.2877C>A (p.Ser959=)
NM_021098.3(CACNA1H):c.2907+19G>A
NM_021098.3(CACNA1H):c.2908-10_2908-4dup
NM_021098.3(CACNA1H):c.2908-15C>T
NM_021098.3(CACNA1H):c.2908-18C>T rs751036019
NM_021098.3(CACNA1H):c.2937C>A (p.Val979=) rs770074317
NM_021098.3(CACNA1H):c.2937C>T (p.Val979=)
NM_021098.3(CACNA1H):c.2946C>T (p.Asn982=) rs368824465
NM_021098.3(CACNA1H):c.2955C>T (p.Ala985=) rs997608038
NM_021098.3(CACNA1H):c.2958C>G (p.Ser986=)
NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=)
NM_021098.3(CACNA1H):c.297C>T (p.Asn99=)
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=) rs371675943
NM_021098.3(CACNA1H):c.299+10C>T
NM_021098.3(CACNA1H):c.299+14_299+15inv
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
NM_021098.3(CACNA1H):c.299+15C>T rs553478910
NM_021098.3(CACNA1H):c.299+16GGCGGGG[2] rs147910127
NM_021098.3(CACNA1H):c.299+16GGCGGGG[4] rs147910127
NM_021098.3(CACNA1H):c.299+16GGCGGGG[5] rs147910127
NM_021098.3(CACNA1H):c.299+17G>A
NM_021098.3(CACNA1H):c.299+18C>A
NM_021098.3(CACNA1H):c.299+20_299+40del rs147910127
NM_021098.3(CACNA1H):c.299+27_299+40del
NM_021098.3(CACNA1H):c.2994C>A (p.Leu998=)
NM_021098.3(CACNA1H):c.300-10G>A
NM_021098.3(CACNA1H):c.300-12C>T
NM_021098.3(CACNA1H):c.300-18C>T
NM_021098.3(CACNA1H):c.300-20T>C
NM_021098.3(CACNA1H):c.300-5G>A rs748626072
NM_021098.3(CACNA1H):c.300-5G>C rs748626072
NM_021098.3(CACNA1H):c.300-8G>T rs3751662
NM_021098.3(CACNA1H):c.3018C>T (p.Leu1006=)
NM_021098.3(CACNA1H):c.3028C>T (p.Leu1010=) rs2141308915
NM_021098.3(CACNA1H):c.3039C>T (p.Ile1013=) rs1055891812
NM_021098.3(CACNA1H):c.3063+11A>G
NM_021098.3(CACNA1H):c.3063+17_3063+18del rs1221923818
NM_021098.3(CACNA1H):c.3063+9G>A rs1596443356
NM_021098.3(CACNA1H):c.3063+9_3063+21del
NM_021098.3(CACNA1H):c.3063+9del rs757759305
NM_021098.3(CACNA1H):c.3064-18G>A
NM_021098.3(CACNA1H):c.3072C>T (p.Ala1024=)
NM_021098.3(CACNA1H):c.3081C>G (p.Ser1027=)
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=) rs369351441
NM_021098.3(CACNA1H):c.3084C>T (p.Asp1028=)
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys) rs548097951
NM_021098.3(CACNA1H):c.3096C>T (p.Asp1032=)
NM_021098.3(CACNA1H):c.3105G>A (p.Ser1035=)
NM_021098.3(CACNA1H):c.3135C>T (p.Leu1045=)
NM_021098.3(CACNA1H):c.3154+10G>T
NM_021098.3(CACNA1H):c.3154+12C>T rs779364761
NM_021098.3(CACNA1H):c.3154+14G>C rs1448162924
NM_021098.3(CACNA1H):c.3154+15T>C
NM_021098.3(CACNA1H):c.3155-14C>T
NM_021098.3(CACNA1H):c.3155-17C>T
NM_021098.3(CACNA1H):c.3155-6C>T rs1172532833
NM_021098.3(CACNA1H):c.3155-7C>G rs376008324
NM_021098.3(CACNA1H):c.3168T>C (p.Cys1056=) rs1555514839
NM_021098.3(CACNA1H):c.3177C>G (p.Ala1059=)
NM_021098.3(CACNA1H):c.3186C>T (p.Pro1062=) rs1465734432
NM_021098.3(CACNA1H):c.3196C>T (p.Leu1066=) rs2141316274
NM_021098.3(CACNA1H):c.3198G>A (p.Leu1066=)
NM_021098.3(CACNA1H):c.320T>C (p.Met107Thr)
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu) rs772211003
NM_021098.3(CACNA1H):c.3249G>A (p.Thr1083=)
NM_021098.3(CACNA1H):c.3261C>T (p.Thr1087=) rs57606792
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=) rs201113434
NM_021098.3(CACNA1H):c.327A>C (p.Val109=) rs775473074
NM_021098.3(CACNA1H):c.3294C>G (p.Pro1098=) rs1039197409
NM_021098.3(CACNA1H):c.3297C>T (p.Ser1099=) rs900247817
NM_021098.3(CACNA1H):c.3312G>A (p.Arg1104=) rs1596446430
NM_021098.3(CACNA1H):c.332T>C (p.Met111Thr)
NM_021098.3(CACNA1H):c.3333G>A (p.Gly1111=)
NM_021098.3(CACNA1H):c.3363+12C>T
NM_021098.3(CACNA1H):c.3363+15C>T
NM_021098.3(CACNA1H):c.3369C>T (p.Ser1123=)
NM_021098.3(CACNA1H):c.3372C>T (p.Leu1124=)
NM_021098.3(CACNA1H):c.3384C>T (p.Pro1128=)
NM_021098.3(CACNA1H):c.3393C>T (p.Pro1131=)
NM_021098.3(CACNA1H):c.3424C>T (p.Arg1142Cys)
NM_021098.3(CACNA1H):c.3426C>T (p.Arg1142=)
NM_021098.3(CACNA1H):c.3429C>T (p.Ser1143=)
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met) rs375342465
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
NM_021098.3(CACNA1H):c.3468C>A (p.Arg1156=)
NM_021098.3(CACNA1H):c.3477G>A (p.Gln1159=)
NM_021098.3(CACNA1H):c.3483G>A (p.Gly1161=)
NM_021098.3(CACNA1H):c.3525C>A (p.Thr1175=)
NM_021098.3(CACNA1H):c.3528C>T (p.Asp1176=)
NM_021098.3(CACNA1H):c.3529G>A (p.Asp1177Asn)
NM_021098.3(CACNA1H):c.3558C>A (p.Pro1186=)
NM_021098.3(CACNA1H):c.3558C>G (p.Pro1186=)
NM_021098.3(CACNA1H):c.3558C>T (p.Pro1186=) rs748985468
NM_021098.3(CACNA1H):c.3579G>T (p.Leu1193=) rs1169808873
NM_021098.3(CACNA1H):c.3588C>T (p.Ala1196=)
NM_021098.3(CACNA1H):c.3595C>T (p.Leu1199=) rs1273089808
NM_021098.3(CACNA1H):c.3600C>T (p.Asp1200=) rs1555515663
NM_021098.3(CACNA1H):c.3613C>A (p.Arg1205=) rs779622633
NM_021098.3(CACNA1H):c.3615G>A (p.Arg1205=)
NM_021098.3(CACNA1H):c.3618G>T (p.Pro1206=) rs771412437
NM_021098.3(CACNA1H):c.3651C>A (p.Arg1217=)
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3670C>T (p.Leu1224=) rs1011421153
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=) rs1555515806
NM_021098.3(CACNA1H):c.3720C>G (p.Ala1240=) rs764674205
NM_021098.3(CACNA1H):c.3733G>A (p.Asp1245Asn)
NM_021098.3(CACNA1H):c.3744+15C>T
NM_021098.3(CACNA1H):c.3744+18G>A
NM_021098.3(CACNA1H):c.3744+20C>T
NM_021098.3(CACNA1H):c.3745-12C>T
NM_021098.3(CACNA1H):c.3745-15C>T
NM_021098.3(CACNA1H):c.3747C>T (p.Ser1249=) rs773881668
NM_021098.3(CACNA1H):c.3753C>T (p.Cys1251=) rs1222478322
NM_021098.3(CACNA1H):c.375C>T (p.Asp125=) rs768580487
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=) rs750607074
NM_021098.3(CACNA1H):c.3825C>T (p.Tyr1275=)
NM_021098.3(CACNA1H):c.3845+14G>T
NM_021098.3(CACNA1H):c.3845+17A>G
NM_021098.3(CACNA1H):c.3845+8G>C rs200291203
NM_021098.3(CACNA1H):c.3846-11C>T rs201806428
NM_021098.3(CACNA1H):c.3846-12_3846-7del rs1969286619
NM_021098.3(CACNA1H):c.3846-18C>A
NM_021098.3(CACNA1H):c.3846-19CCCGCC[3] rs1969286619
NM_021098.3(CACNA1H):c.3846-28_3846-7del rs2141337640
NM_021098.3(CACNA1H):c.3849C>T (p.Phe1283=)
NM_021098.3(CACNA1H):c.3867G>C (p.Lys1289Asn) rs375135684
NM_021098.3(CACNA1H):c.3877C>G (p.His1293Asp)
NM_021098.3(CACNA1H):c.3900C>T (p.Val1300=) rs747491713
NM_021098.3(CACNA1H):c.3903C>G (p.Leu1301=)
NM_021098.3(CACNA1H):c.3906C>G (p.Val1302=) rs775711531
NM_021098.3(CACNA1H):c.3906C>T (p.Val1302=) rs775711531
NM_021098.3(CACNA1H):c.390C>A (p.Ser130=) rs59794024
NM_021098.3(CACNA1H):c.390C>G (p.Ser130=) rs59794024
NM_021098.3(CACNA1H):c.3921C>T (p.Asn1307=) rs377019810
NM_021098.3(CACNA1H):c.3930C>T (p.Thr1310=)
NM_021098.3(CACNA1H):c.3937C>T (p.Leu1313=) rs757747784
NM_021098.3(CACNA1H):c.3969+16C>G rs1280107139
NM_021098.3(CACNA1H):c.3969+16C>T rs1280107139
NM_021098.3(CACNA1H):c.396C>T (p.Arg132=) rs1320328822
NM_021098.3(CACNA1H):c.3970-15G>A
NM_021098.3(CACNA1H):c.3970-16C>T
NM_021098.3(CACNA1H):c.3970-4G>C
NM_021098.3(CACNA1H):c.3978C>T (p.Val1326=) rs1212594226
NM_021098.3(CACNA1H):c.3990C>T (p.Val1330=)
NM_021098.3(CACNA1H):c.3993C>T (p.Ser1331=)
NM_021098.3(CACNA1H):c.4035G>A (p.Val1345=) rs747258959
NM_021098.3(CACNA1H):c.4038+13C>T
NM_021098.3(CACNA1H):c.4038+14dup rs775720802
NM_021098.3(CACNA1H):c.4038+15G>A
NM_021098.3(CACNA1H):c.4038+17G>T rs578041058
NM_021098.3(CACNA1H):c.4038+8G>T rs555282047
NM_021098.3(CACNA1H):c.4039-11G>T rs369310607
NM_021098.3(CACNA1H):c.4039-15A>G
NM_021098.3(CACNA1H):c.4039-16C>T
NM_021098.3(CACNA1H):c.4039-19_4039-18del
NM_021098.3(CACNA1H):c.4039-20G>T
NM_021098.3(CACNA1H):c.403A>G (p.Ile135Val)
NM_021098.3(CACNA1H):c.4050G>A (p.Leu1350=)
NM_021098.3(CACNA1H):c.4096C>T (p.Leu1366=)
NM_021098.3(CACNA1H):c.4099C>T (p.Leu1367=)
NM_021098.3(CACNA1H):c.411+18_411+40del
NM_021098.3(CACNA1H):c.411+20G>C
NM_021098.3(CACNA1H):c.411+20G>T
NM_021098.3(CACNA1H):c.4116G>A (p.Val1372=) rs2141343082
NM_021098.3(CACNA1H):c.412-19C>T
NM_021098.3(CACNA1H):c.412-4G>C rs747026006
NM_021098.3(CACNA1H):c.412-7C>T
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
NM_021098.3(CACNA1H):c.4170G>A (p.Lys1390=) rs2141343609
NM_021098.3(CACNA1H):c.4173C>T (p.Ile1391=)
NM_021098.3(CACNA1H):c.4174C>T (p.Leu1392=) rs1012227993
NM_021098.3(CACNA1H):c.417T>C (p.Phe139=) rs2141197568
NM_021098.3(CACNA1H):c.4188C>T (p.Arg1396=)
NM_021098.3(CACNA1H):c.4197T>G (p.Arg1399=)
NM_021098.3(CACNA1H):c.4198C>T (p.Leu1400=) rs1175082193
NM_021098.3(CACNA1H):c.4219C>T (p.Leu1407=) rs1041269521
NM_021098.3(CACNA1H):c.4223+14_4223+24del
NM_021098.3(CACNA1H):c.4223+15G>C
NM_021098.3(CACNA1H):c.4223+9C>T
NM_021098.3(CACNA1H):c.4224-16C>T
NM_021098.3(CACNA1H):c.4224-17C>A
NM_021098.3(CACNA1H):c.4224-17C>G rs565477632
NM_021098.3(CACNA1H):c.4224-19A>G
NM_021098.3(CACNA1H):c.4224-6C>G rs72552039
NM_021098.3(CACNA1H):c.4224-8C>T
NM_021098.3(CACNA1H):c.4224-9C>G rs1287379368
NM_021098.3(CACNA1H):c.4224-9C>T rs1287379368
NM_021098.3(CACNA1H):c.4242G>A (p.Pro1414=)
NM_021098.3(CACNA1H):c.4245C>A (p.Gly1415=) rs369232507
NM_021098.3(CACNA1H):c.4245C>T (p.Gly1415=)
NM_021098.3(CACNA1H):c.4263G>A (p.Glu1421=)
NM_021098.3(CACNA1H):c.4269G>C (p.Leu1423=) rs554182970
NM_021098.3(CACNA1H):c.4299C>T (p.Ile1433=)
NM_021098.3(CACNA1H):c.4305C>T (p.Leu1435=)
NM_021098.3(CACNA1H):c.4317C>T (p.Ala1439=)
NM_021098.3(CACNA1H):c.4344T>C (p.Gly1448=)
NM_021098.3(CACNA1H):c.4350+13del rs2141346672
NM_021098.3(CACNA1H):c.4350+19C>T
NM_021098.3(CACNA1H):c.4351-16C>A
NM_021098.3(CACNA1H):c.4351-16C>T
NM_021098.3(CACNA1H):c.4351-5G>A
NM_021098.3(CACNA1H):c.4353C>T (p.Leu1451=)
NM_021098.3(CACNA1H):c.4370A>T (p.Tyr1457Phe) rs747837740
NM_021098.3(CACNA1H):c.4425C>A (p.Ala1475=)
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His)
NM_021098.3(CACNA1H):c.444G>T (p.Ala148=) rs560099947
NM_021098.3(CACNA1H):c.4476+11C>T
NM_021098.3(CACNA1H):c.4477-10T>C
NM_021098.3(CACNA1H):c.4482G>A (p.Leu1494=) rs767021614
NM_021098.3(CACNA1H):c.4560C>T (p.Asp1520=)
NM_021098.3(CACNA1H):c.4566+12C>G
NM_021098.3(CACNA1H):c.4566+14G>C
NM_021098.3(CACNA1H):c.4566+17C>T
NM_021098.3(CACNA1H):c.4566+18G>T
NM_021098.3(CACNA1H):c.4566+8C>T
NM_021098.3(CACNA1H):c.4567-11C>T
NM_021098.3(CACNA1H):c.4567-14C>T
NM_021098.3(CACNA1H):c.4567-6C>T
NM_021098.3(CACNA1H):c.4587C>G (p.Pro1529=) rs1410934715
NM_021098.3(CACNA1H):c.4594C>T (p.Leu1532=)
NM_021098.3(CACNA1H):c.4614C>T (p.Phe1538=)
NM_021098.3(CACNA1H):c.4617G>A (p.Leu1539=)
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=) rs752944065
NM_021098.3(CACNA1H):c.4709C>G (p.Ala1570Gly)
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=) rs777692032
NM_021098.3(CACNA1H):c.471C>T (p.Ala157=)
NM_021098.3(CACNA1H):c.4728G>A (p.Lys1576=) rs755610106
NM_021098.3(CACNA1H):c.472T>C (p.Leu158=)
NM_021098.3(CACNA1H):c.4737G>T (p.Arg1579=) rs201270662
NM_021098.3(CACNA1H):c.4743A>C (p.Leu1581=) rs1201603119
NM_021098.3(CACNA1H):c.4743A>G (p.Leu1581=)
NM_021098.3(CACNA1H):c.4759+11C>T
NM_021098.3(CACNA1H):c.4759+12_4759+23del
NM_021098.3(CACNA1H):c.4759+13CGGTGG[4] rs563400847
NM_021098.3(CACNA1H):c.4759+17G>A rs1221457861
NM_021098.3(CACNA1H):c.4759+20G>A
NM_021098.3(CACNA1H):c.4759+22_4759+33del
NM_021098.3(CACNA1H):c.4760-10G>C
NM_021098.3(CACNA1H):c.4760-16C>T rs762530169
NM_021098.3(CACNA1H):c.4760-17T>G
NM_021098.3(CACNA1H):c.4760-4C>G rs377601289
NM_021098.3(CACNA1H):c.4777+10C>G rs762322793
NM_021098.3(CACNA1H):c.4777+11T>A rs763690761
NM_021098.3(CACNA1H):c.4777+18C>T
NM_021098.3(CACNA1H):c.4777+7G>A rs1283957989
NM_021098.3(CACNA1H):c.4777+7G>C
NM_021098.3(CACNA1H):c.4778-12C>A
NM_021098.3(CACNA1H):c.4778-13G>C rs757429018
NM_021098.3(CACNA1H):c.4778-16G>A
NM_021098.3(CACNA1H):c.4788C>T (p.Arg1596=)
NM_021098.3(CACNA1H):c.478C>G (p.Leu160Val)
NM_021098.3(CACNA1H):c.4797C>T (p.Tyr1599=) rs1367437480
NM_021098.3(CACNA1H):c.4803C>T (p.Ala1601=) rs559982155
NM_021098.3(CACNA1H):c.480G>C (p.Leu160=) rs757136301
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His) rs377532485
NM_021098.3(CACNA1H):c.4824C>G (p.Arg1608=)
NM_021098.3(CACNA1H):c.4824C>T (p.Arg1608=)
NM_021098.3(CACNA1H):c.4833C>T (p.His1611=)
NM_021098.3(CACNA1H):c.4836G>T (p.Ser1612=) rs58033848
NM_021098.3(CACNA1H):c.483C>T (p.Phe161=)
NM_021098.3(CACNA1H):c.4842C>T (p.Cys1614=)
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=) rs534178272
NM_021098.3(CACNA1H):c.4866C>T (p.Phe1622=)
NM_021098.3(CACNA1H):c.4875C>T (p.Phe1625=)
NM_021098.3(CACNA1H):c.4884T>C (p.Cys1628=)
NM_021098.3(CACNA1H):c.4890C>T (p.Asn1630=) rs758400171
NM_021098.3(CACNA1H):c.4905C>T (p.Ser1635=)
NM_021098.3(CACNA1H):c.4911G>A (p.Glu1637=)
NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=)
NM_021098.3(CACNA1H):c.4929+13G>C rs1567547445
NM_021098.3(CACNA1H):c.4929+14G>T
NM_021098.3(CACNA1H):c.4929+15_4929+25del rs752221447
NM_021098.3(CACNA1H):c.4929+15_4929+25dup
NM_021098.3(CACNA1H):c.4929+17C>T
NM_021098.3(CACNA1H):c.4929+7G>A
NM_021098.3(CACNA1H):c.4929+7_4929+8delinsTG rs2141367669
NM_021098.3(CACNA1H):c.4929+8C>A rs59027578
NM_021098.3(CACNA1H):c.4930-5C>G
NM_021098.3(CACNA1H):c.4930-7C>A rs1474037310
NM_021098.3(CACNA1H):c.4932_4933delinsAT (p.Ser1644_Leu1645=)
NM_021098.3(CACNA1H):c.4944C>A (p.Ala1648=) rs1448726368
NM_021098.3(CACNA1H):c.4947C>G (p.Leu1649=)
NM_021098.3(CACNA1H):c.4950G>A (p.Lys1650=) rs1969889318
NM_021098.3(CACNA1H):c.4962C>T (p.Tyr1654=)
NM_021098.3(CACNA1H):c.4965C>A (p.Val1655=)
NM_021098.3(CACNA1H):c.4983C>T (p.Val1661=)
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His) rs369914175
NM_021098.3(CACNA1H):c.5025G>C (p.Arg1675=) rs2141374709
NM_021098.3(CACNA1H):c.5034G>A (p.Lys1678=)
NM_021098.3(CACNA1H):c.5039+7G>T rs377110506
NM_021098.3(CACNA1H):c.5040-16G>T rs930079342
NM_021098.3(CACNA1H):c.5040-19T>C
NM_021098.3(CACNA1H):c.5040-20C>T
NM_021098.3(CACNA1H):c.5068C>T (p.Leu1690=) rs755567471
NM_021098.3(CACNA1H):c.5073G>A (p.Leu1691=) rs371953309
NM_021098.3(CACNA1H):c.5085C>T (p.Gly1695=)
NM_021098.3(CACNA1H):c.5097G>A (p.Glu1699=)
NM_021098.3(CACNA1H):c.5106G>A (p.Glu1702=) rs2141376316
NM_021098.3(CACNA1H):c.5124C>T (p.Pro1708=)
NM_021098.3(CACNA1H):c.5127C>T (p.Ile1709=) rs1555519102
NM_021098.3(CACNA1H):c.5142C>T (p.Ile1714=)
NM_021098.3(CACNA1H):c.5154C>T (p.Arg1718=)
NM_021098.3(CACNA1H):c.5173+12C>T
NM_021098.3(CACNA1H):c.5173+13G>A rs542071111
NM_021098.3(CACNA1H):c.5173+13G>C rs542071111
NM_021098.3(CACNA1H):c.5173+19G>A rs753759563
NM_021098.3(CACNA1H):c.5173+5GTGCCCGC[3]
NM_021098.3(CACNA1H):c.5174-16C>T rs1483955081
NM_021098.3(CACNA1H):c.5174-20C>G
NM_021098.3(CACNA1H):c.5174-8G>C
NM_021098.3(CACNA1H):c.5174-9C>T
NM_021098.3(CACNA1H):c.5190G>A (p.Lys1730=) rs2141377988
NM_021098.3(CACNA1H):c.5199G>A (p.Thr1733=)
NM_021098.3(CACNA1H):c.5212C>T (p.Leu1738=)
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.5241C>T (p.Pro1747=) rs1969956083
NM_021098.3(CACNA1H):c.5244+11C>T
NM_021098.3(CACNA1H):c.5244+13C>T
NM_021098.3(CACNA1H):c.5244+14G>C
NM_021098.3(CACNA1H):c.5244+15C>T
NM_021098.3(CACNA1H):c.5245-10T>C
NM_021098.3(CACNA1H):c.5245-11C>G rs150441087
NM_021098.3(CACNA1H):c.5245-11C>T rs150441087
NM_021098.3(CACNA1H):c.5245-14TC[2] rs748281496
NM_021098.3(CACNA1H):c.5245-16C>T
NM_021098.3(CACNA1H):c.5274C>G (p.Leu1758=)
NM_021098.3(CACNA1H):c.5286C>T (p.Ile1762=) rs1596473364
NM_021098.3(CACNA1H):c.5295G>T (p.Ala1765=)
NM_021098.3(CACNA1H):c.5323+12C>G rs776271153
NM_021098.3(CACNA1H):c.5323+15C>T
NM_021098.3(CACNA1H):c.5323+20T>C
NM_021098.3(CACNA1H):c.5324-16G>A rs374872701
NM_021098.3(CACNA1H):c.5324-16G>T rs374872701
NM_021098.3(CACNA1H):c.5324-7C>A
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile) rs1439949443
NM_021098.3(CACNA1H):c.5335G>T (p.Asp1779Tyr) rs551983302
NM_021098.3(CACNA1H):c.5343C>T (p.Pro1781=)
NM_021098.3(CACNA1H):c.5352C>T (p.Gly1784=)
NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=)
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=) rs868670809
NM_021098.3(CACNA1H):c.5370C>T (p.Thr1790=)
NM_021098.3(CACNA1H):c.537C>T (p.Val179=) rs368785828
NM_021098.3(CACNA1H):c.5400G>A (p.Thr1800=)
NM_021098.3(CACNA1H):c.5400G>T (p.Thr1800=)
NM_021098.3(CACNA1H):c.5412G>A (p.Val1804=) rs1474330900
NM_021098.3(CACNA1H):c.5436G>A (p.Gly1812=)
NM_021098.3(CACNA1H):c.5445+11C>T
NM_021098.3(CACNA1H):c.5445+15C>A
NM_021098.3(CACNA1H):c.5445+17T>C rs1455671585
NM_021098.3(CACNA1H):c.5445+19C>A
NM_021098.3(CACNA1H):c.5446-14G>C
NM_021098.3(CACNA1H):c.5446-19C>T
NM_021098.3(CACNA1H):c.545+10G>A rs748867788
NM_021098.3(CACNA1H):c.545+12C>T
NM_021098.3(CACNA1H):c.545+20G>T
NM_021098.3(CACNA1H):c.5457C>T (p.Arg1819=) rs749678010
NM_021098.3(CACNA1H):c.546-14G>T rs779875096
NM_021098.3(CACNA1H):c.546-15C>T
NM_021098.3(CACNA1H):c.5463C>T (p.Cys1821=) rs1328976081
NM_021098.3(CACNA1H):c.5490C>T (p.Ser1830=) rs776339332
NM_021098.3(CACNA1H):c.54G>A (p.Pro18=)
NM_021098.3(CACNA1H):c.54G>T (p.Pro18=)
NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=)
NM_021098.3(CACNA1H):c.5514C>G (p.Val1838=)
NM_021098.3(CACNA1H):c.5556G>A (p.Val1852=)
NM_021098.3(CACNA1H):c.5574G>A (p.Val1858=) rs2141394320
NM_021098.3(CACNA1H):c.5587C>T (p.Leu1863=)
NM_021098.3(CACNA1H):c.5619T>C (p.Asp1873=)
NM_021098.3(CACNA1H):c.5628G>C (p.Leu1876=) rs1284603054
NM_021098.3(CACNA1H):c.5631C>T (p.Asp1877=)
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.5661C>T (p.Gly1887=) rs2141394888
NM_021098.3(CACNA1H):c.5664C>G (p.Pro1888=) rs761380706
NM_021098.3(CACNA1H):c.5674C>T (p.Arg1892Cys)
NM_021098.3(CACNA1H):c.5683G>C (p.Asp1895His)
NM_021098.3(CACNA1H):c.5700C>G (p.Pro1900=) rs546638839
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
NM_021098.3(CACNA1H):c.5724C>T (p.Ala1908=)
NM_021098.3(CACNA1H):c.5760C>G (p.Ser1920=) rs144424401
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.577G>C (p.Val193Leu)
NM_021098.3(CACNA1H):c.5784C>G (p.Pro1928=) rs767261951
NM_021098.3(CACNA1H):c.579G>A (p.Val193=) rs2141202280
NM_021098.3(CACNA1H):c.5844G>C (p.Leu1948=)
NM_021098.3(CACNA1H):c.5887+10_5887+20del rs1290317498
NM_021098.3(CACNA1H):c.5887+11C>T
NM_021098.3(CACNA1H):c.5887+15A>G
NM_021098.3(CACNA1H):c.5887+19A>G
NM_021098.3(CACNA1H):c.5888-17A>G
NM_021098.3(CACNA1H):c.5888-3del
NM_021098.3(CACNA1H):c.588G>C (p.Ser196=) rs749822770
NM_021098.3(CACNA1H):c.5937C>T (p.Leu1979=)
NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=)
NM_021098.3(CACNA1H):c.5970G>A (p.Arg1990=) rs1567556646
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe) rs549364922
NM_021098.3(CACNA1H):c.5996C>G (p.Ser1999Cys)
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe) rs1037177615
NM_021098.3(CACNA1H):c.599C>T (p.Thr200Ile)
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln) rs200399120
NM_021098.3(CACNA1H):c.6002G>T (p.Arg2001Leu) rs200399120
NM_021098.3(CACNA1H):c.6009A>T (p.Thr2003=)
NM_021098.3(CACNA1H):c.600C>T (p.Thr200=)
NM_021098.3(CACNA1H):c.6021C>T (p.Pro2007=)
NM_021098.3(CACNA1H):c.6048+12C>A
NM_021098.3(CACNA1H):c.6048+17G>A
NM_021098.3(CACNA1H):c.6049-12A>G
NM_021098.3(CACNA1H):c.6049-19T>C
NM_021098.3(CACNA1H):c.6049-8C>T
NM_021098.3(CACNA1H):c.6057G>A (p.Val2019=)
NM_021098.3(CACNA1H):c.6063C>T (p.Thr2021=) rs780400494
NM_021098.3(CACNA1H):c.6069C>T (p.Ser2023=)
NM_021098.3(CACNA1H):c.6084T>A (p.Ile2028=) rs1596479765
NM_021098.3(CACNA1H):c.6090C>T (p.Ser2030=)
NM_021098.3(CACNA1H):c.610C>T (p.Leu204=) rs2141202599
NM_021098.3(CACNA1H):c.6120T>C (p.Pro2040=) rs1596479859
NM_021098.3(CACNA1H):c.613C>T (p.Arg205Trp)
NM_021098.3(CACNA1H):c.6159C>A (p.Gly2053=) rs755452106
NM_021098.3(CACNA1H):c.6174A>C (p.Pro2058=) rs748190834
NM_021098.3(CACNA1H):c.6187C>G (p.Arg2063Gly)
NM_021098.3(CACNA1H):c.618C>G (p.Pro206=)
NM_021098.3(CACNA1H):c.618C>T (p.Pro206=)
NM_021098.3(CACNA1H):c.6207T>C (p.Thr2069=) rs1970366738
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=) rs771719773
NM_021098.3(CACNA1H):c.6255C>T (p.Ala2085=) rs751609693
NM_021098.3(CACNA1H):c.6282G>C (p.Ser2094=)
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp)
NM_021098.3(CACNA1H):c.6312C>T (p.Ile2104=) rs1224881281
NM_021098.3(CACNA1H):c.6345C>A (p.Ala2115=) rs529859576
NM_021098.3(CACNA1H):c.634C>A (p.Arg212Ser) rs370434906
NM_021098.3(CACNA1H):c.6357C>T (p.Gly2119=) rs754165259
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu) rs752385455
NM_021098.3(CACNA1H):c.6405C>G (p.Leu2135=)
NM_021098.3(CACNA1H):c.6408C>T (p.Tyr2136=)
NM_021098.3(CACNA1H):c.643+14C>T
NM_021098.3(CACNA1H):c.643+15C>A rs59026203
NM_021098.3(CACNA1H):c.643+19C>A rs754111189
NM_021098.3(CACNA1H):c.643+8A>G
NM_021098.3(CACNA1H):c.643+9C>T
NM_021098.3(CACNA1H):c.644-14C>T
NM_021098.3(CACNA1H):c.644-19C>T
NM_021098.3(CACNA1H):c.6456G>A (p.Glu2152=) rs1970387497
NM_021098.3(CACNA1H):c.6459G>A (p.Gln2153=)
NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=)
NM_021098.3(CACNA1H):c.6471G>A (p.Ser2157=)
NM_021098.3(CACNA1H):c.6493C>G (p.Pro2165Ala)
NM_021098.3(CACNA1H):c.6497G>C (p.Gly2166Ala)
NM_021098.3(CACNA1H):c.6498G>A (p.Gly2166=)
NM_021098.3(CACNA1H):c.6503C>T (p.Ala2168Val)
NM_021098.3(CACNA1H):c.6507G>A (p.Lys2169=) rs1555521007
NM_021098.3(CACNA1H):c.651G>A (p.Arg217=) rs1455037011
NM_021098.3(CACNA1H):c.6525C>G (p.Ala2175=) rs1329243659
NM_021098.3(CACNA1H):c.6525C>T (p.Ala2175=)
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp)
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6570C>A (p.Pro2190=) rs1046847004
NM_021098.3(CACNA1H):c.657G>A (p.Leu219=) rs376669194
NM_021098.3(CACNA1H):c.6606C>A (p.Gly2202=) rs1233255850
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6636C>T (p.Gly2212=)
NM_021098.3(CACNA1H):c.6642C>T (p.Thr2214=) rs1555521091
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe) rs746267333
NM_021098.3(CACNA1H):c.6693C>T (p.Ser2231=) rs756073800
NM_021098.3(CACNA1H):c.6714A>C (p.Ser2238=) rs1970410954
NM_021098.3(CACNA1H):c.6714A>G (p.Ser2238=)
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=) rs375725132
NM_021098.3(CACNA1H):c.6723G>C (p.Gly2241=)
NM_021098.3(CACNA1H):c.6729C>T (p.Asp2243=) rs534649086
NM_021098.3(CACNA1H):c.6792C>T (p.Pro2264=) rs1292750287
NM_021098.3(CACNA1H):c.6822G>A (p.Gly2274=)
NM_021098.3(CACNA1H):c.6831T>C (p.Ser2277=) rs772341545
NM_021098.3(CACNA1H):c.6848A>G (p.Asp2283Gly) rs58597457
NM_021098.3(CACNA1H):c.6850G>A (p.Gly2284Ser)
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) rs1468998569
NM_021098.3(CACNA1H):c.6876C>T (p.Ser2292=)
NM_021098.3(CACNA1H):c.6900A>T (p.Ile2300=) rs762822116
NM_021098.3(CACNA1H):c.690C>G (p.Leu230=)
NM_021098.3(CACNA1H):c.7023C>G (p.Ala2341=)
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=) rs745960698
NM_021098.3(CACNA1H):c.703C>T (p.Leu235=) rs1967297712
NM_021098.3(CACNA1H):c.7041T>C (p.Gly2347=)
NM_021098.3(CACNA1H):c.705G>C (p.Leu235=) rs368520506
NM_021098.3(CACNA1H):c.708G>T (p.Leu236=) rs2141220799
NM_021098.3(CACNA1H):c.717C>T (p.Phe239=)
NM_021098.3(CACNA1H):c.720C>T (p.Val240=)
NM_021098.3(CACNA1H):c.753C>G (p.Leu251=) rs2141221266
NM_021098.3(CACNA1H):c.75G>A (p.Leu25=)
NM_021098.3(CACNA1H):c.765C>T (p.Leu255=) rs778810951
NM_021098.3(CACNA1H):c.780C>T (p.Cys260=) rs1257224911
NM_021098.3(CACNA1H):c.785T>C (p.Leu262Pro) rs570282553
NM_021098.3(CACNA1H):c.795C>G (p.Ala265=)
NM_021098.3(CACNA1H):c.803+17C>G
NM_021098.3(CACNA1H):c.803+18C>T
NM_021098.3(CACNA1H):c.803+20G>A
NM_021098.3(CACNA1H):c.803+9G>A rs1567502713
NM_021098.3(CACNA1H):c.804-10C>T
NM_021098.3(CACNA1H):c.804-12G>T
NM_021098.3(CACNA1H):c.804-15T>C rs2141241218
NM_021098.3(CACNA1H):c.804-16C>T
NM_021098.3(CACNA1H):c.804-4C>G
NM_021098.3(CACNA1H):c.804-6C>T
NM_021098.3(CACNA1H):c.804-9C>T
NM_021098.3(CACNA1H):c.81G>A (p.Gly27=) rs2151603478
NM_021098.3(CACNA1H):c.831G>A (p.Pro277=) rs374861940
NM_021098.3(CACNA1H):c.831G>C (p.Pro277=) rs374861940
NM_021098.3(CACNA1H):c.849G>A (p.Glu283=) rs1056868756
NM_021098.3(CACNA1H):c.861C>T (p.Asn287=)
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=) rs369201438
NM_021098.3(CACNA1H):c.864G>C (p.Pro288=) rs369201438
NM_021098.3(CACNA1H):c.870C>T (p.Ile290=) rs373205962
NM_021098.3(CACNA1H):c.915C>A (p.Ile305=)
NM_021098.3(CACNA1H):c.927C>A (p.Arg309=)
NM_021098.3(CACNA1H):c.936C>A (p.Arg312=) rs780299000
NM_021098.3(CACNA1H):c.948C>A (p.Thr316=) rs1243283601
NM_021098.3(CACNA1H):c.948C>T (p.Thr316=) rs1243283601
NM_021098.3(CACNA1H):c.949C>T (p.Leu317=)
NM_021098.3(CACNA1H):c.967A>G (p.Thr323Ala)
NM_021098.3(CACNA1H):c.969G>C (p.Thr323=)
NM_021098.3(CACNA1H):c.975G>A (p.Pro325=)
NM_021098.3(CACNA1H):c.975G>T (p.Pro325=) rs771782530
NM_021098.3(CACNA1H):c.981C>T (p.Ala327=) rs761021717
NM_021098.3(CACNA1H):c.987G>A (p.Gly329=)
NM_021098.3(CACNA1H):c.993C>T (p.Gly331=) rs770821118
NM_021098.3(CACNA1H):c.99C>T (p.Pro33=)

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