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=)
|
|
|