NM_001370259.2(MEN1):c.1299T>C (p.His433=)
|
rs540012
|
0.97595
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NC_000021.9:g.44285777T>C
|
rs751032
|
0.90117
|
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)
|
rs2959656
|
0.89377
|
NM_001395413.1(POR):c.1446T>C (p.Ala482=)
|
rs2228104
|
0.86727
|
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)
|
rs4247094
|
0.85388
|
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)
|
rs8063574
|
0.85136
|
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=)
|
rs4984637
|
0.85027
|
NM_001395413.1(POR):c.1058-13C>G
|
rs4732516
|
0.84641
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=)
|
rs2753325
|
0.65866
|
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=)
|
rs2753326
|
0.65842
|
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)
|
rs1054645
|
0.64981
|
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=)
|
rs2745136
|
0.64782
|
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)
|
rs2738893
|
0.63925
|
NM_021098.3(CACNA1H):c.4039-20G>A
|
rs2738897
|
0.53797
|
NM_003000.3(SDHB):c.642+325C>T
|
rs2235930
|
0.51227
|
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=)
|
rs9934839
|
0.50649
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49415
|
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=)
|
rs8044363
|
0.44103
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=)
|
rs2071313
|
0.30843
|
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)
|
rs61734410
|
0.29755
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
NM_001395413.1(POR):c.1707G>A (p.Ser569=)
|
rs1057870
|
0.28425
|
NM_001395413.1(POR):c.1239+12C>T
|
rs2286822
|
0.27856
|
NM_001395413.1(POR):c.1239+20G>A
|
rs2286823
|
0.27178
|
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
|
rs1057868
|
0.26722
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala)
|
rs4984636
|
0.20272
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.18036
|
NM_000475.5(NR0B1):c.114C>T (p.Cys38=)
|
rs6150
|
0.14452
|
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)
|
rs3852673
|
0.13717
|
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val)
|
rs36117280
|
0.12769
|
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)
|
rs1046474
|
0.11761
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_021098.3(CACNA1H):c.2603+12C>T
|
rs2745150
|
0.10774
|
NM_001370259.2(MEN1):c.1621= (p.Thr541=)
|
rs2959656
|
0.10623
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_021098.3(CACNA1H):c.5244+7G>A
|
rs2235634
|
0.10432
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)
|
rs9922076
|
0.09939
|
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)
|
rs2407083
|
0.09922
|
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=)
|
rs61910714
|
0.09043
|
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=)
|
rs2738891
|
0.08967
|
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His)
|
rs1054644
|
0.08945
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
NM_021098.3(CACNA1H):c.2604-19C>T
|
rs11646893
|
0.07745
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)
|
rs3751664
|
0.07491
|
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=)
|
rs3751889
|
0.05412
|
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly)
|
rs3751886
|
0.05247
|
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)
|
rs61737072
|
0.05045
|
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=)
|
rs57135930
|
0.04916
|
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys)
|
rs72552056
|
0.04911
|
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=)
|
rs60526088
|
0.04674
|
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=)
|
rs28365124
|
0.04584
|
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln)
|
rs58124832
|
0.04404
|
NM_013335.4(GMPPA):c.1162+18C>T
|
rs111553864
|
0.03828
|
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=)
|
rs59794024
|
0.03762
|
NM_021098.3(CACNA1H):c.6048+13G>A
|
rs3751888
|
0.03131
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_001370259.2(MEN1):c.435C>T (p.Ser145=)
|
rs61736636
|
0.02784
|
NM_001370259.2(MEN1):c.1299= (p.His433=)
|
rs540012
|
0.02405
|
NM_013335.4(GMPPA):c.945G>A (p.Glu315=)
|
rs13428617
|
0.02201
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000383.4(AIRE):c.1096-9G>C
|
rs113512196
|
0.01593
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_017841.4(SDHAF2):c.36+10G>A
|
rs114207859
|
0.01460
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)
|
rs59650398
|
0.01351
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_021098.3(CACNA1H):c.546-10C>T
|
rs35509671
|
0.01282
|
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)
|
rs191613214
|
0.01279
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_013335.4(GMPPA):c.213C>T (p.Ala71=)
|
rs41272703
|
0.01225
|
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=)
|
rs58812334
|
0.01201
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
NM_013335.4(GMPPA):c.40+15G>A
|
rs80239182
|
0.00978
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)
|
rs58110336
|
0.00885
|
NM_021098.3(CACNA1H):c.4929+18G>A
|
rs59548273
|
0.00873
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=)
|
rs58142268
|
0.00792
|
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=)
|
rs61394370
|
0.00768
|
NM_021098.3(CACNA1H):c.299+14C>G
|
rs539924701
|
0.00740
|
NM_013335.4(GMPPA):c.441G>A (p.Thr147=)
|
rs150386940
|
0.00726
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)
|
rs60414549
|
0.00678
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu)
|
rs59935412
|
0.00605
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln)
|
rs57633676
|
0.00591
|
NM_004168.4(SDHA):c.312+20C>T
|
rs111533078
|
0.00586
|
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu)
|
rs11910214
|
0.00580
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_021098.3(CACNA1H):c.6048+12C>T
|
rs192277843
|
0.00554
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)
|
rs57112868
|
0.00508
|
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)
|
rs60720455
|
0.00507
|
NM_000033.4(ABCD1):c.471A>G (p.Gln157=)
|
rs151148684
|
0.00506
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=)
|
rs58764017
|
0.00488
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_017841.4(SDHAF2):c.36+17T>C
|
rs201389647
|
0.00460
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_000383.4(AIRE):c.1401-11C>T
|
rs371136111
|
0.00444
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=)
|
rs60415676
|
0.00425
|
NM_021098.3(CACNA1H):c.4038+12C>T
|
rs370831984
|
0.00414
|
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn)
|
rs34219046
|
0.00411
|
NM_021098.3(CACNA1H):c.5173+10C>T
|
rs72554026
|
0.00407
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=)
|
rs60275734
|
0.00378
|
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg)
|
rs59529743
|
0.00364
|
NM_001395413.1(POR):c.508-14_508-13del
|
rs72557912
|
0.00363
|
NM_001395413.1(POR):c.1661-17C>T
|
rs10265262
|
0.00362
|
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)
|
rs147595334
|
0.00357
|
NM_021098.3(CACNA1H):c.827G>A (p.Arg276Gln)
|
rs59709076
|
0.00348
|
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)
|
rs146215853
|
0.00322
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00318
|
NM_000383.4(AIRE):c.1116G>A (p.Ser372=)
|
rs61737006
|
0.00304
|
NM_000383.4(AIRE):c.1400+10C>T
|
rs372277949
|
0.00304
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn)
|
rs145370269
|
0.00241
|
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.313-19G>T
|
rs185555941
|
0.00235
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)
|
rs34873891
|
0.00230
|
NM_021098.3(CACNA1H):c.2603+20C>A
|
rs57600685
|
0.00226
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_000383.4(AIRE):c.1296G>A (p.Ala432=)
|
rs144359012
|
0.00222
|
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=)
|
rs58212659
|
0.00220
|
NM_000383.4(AIRE):c.880-18G>A
|
rs139659079
|
0.00213
|
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu)
|
rs142366324
|
0.00212
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00209
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr)
|
rs58394372
|
0.00193
|
NM_000383.4(AIRE):c.1065C>T (p.Pro355=)
|
rs201551372
|
0.00188
|
NM_021098.3(CACNA1H):c.1735G>A (p.Asp579Asn)
|
rs200804807
|
0.00187
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_021098.3(CACNA1H):c.4778-14C>T
|
rs374784679
|
0.00185
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_000383.4(AIRE):c.63C>T (p.Ala21=)
|
rs371796437
|
0.00176
|
NM_021098.3(CACNA1H):c.1212+18T>C
|
rs11863387
|
0.00171
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val)
|
rs58535913
|
0.00170
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
NM_000033.4(ABCD1):c.1393+18C>G
|
rs188551185
|
0.00164
|
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)
|
rs59052554
|
0.00164
|
NM_021098.3(CACNA1H):c.4777+16C>T
|
rs58216775
|
0.00164
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_021098.3(CACNA1H):c.2790-20G>A
|
rs373286579
|
0.00153
|
NM_000033.4(ABCD1):c.1634+12C>T
|
rs369538219
|
0.00150
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)
|
rs58597457
|
0.00137
|
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.1213-18C>T
|
rs57432507
|
0.00130
|
NM_021098.3(CACNA1H):c.4778-5C>T
|
rs72552061
|
0.00130
|
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_021098.3(CACNA1H):c.4248C>G (p.Leu1416=)
|
rs58110066
|
0.00122
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)
|
rs112693024
|
0.00118
|
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)
|
rs117964326
|
0.00118
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
NM_000383.4(AIRE):c.1083C>T (p.Pro361=)
|
rs201010030
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_021098.3(CACNA1H):c.643+11G>A
|
rs200949826
|
0.00114
|
NM_000383.4(AIRE):c.510A>G (p.Ala170=)
|
rs146992760
|
0.00113
|
NM_021098.3(CACNA1H):c.3669C>T (p.Ala1223=)
|
rs59954346
|
0.00113
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
NM_000383.4(AIRE):c.717C>T (p.Ser239=)
|
rs149130190
|
0.00110
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00109
|
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys)
|
rs140421233
|
0.00109
|
NM_017841.4(SDHAF2):c.260+12G>A
|
rs371469299
|
0.00108
|
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_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000383.4(AIRE):c.789C>T (p.Gly263=)
|
rs138066507
|
0.00099
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=)
|
rs61732194
|
0.00095
|
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=)
|
rs200144667
|
0.00094
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
NM_021098.3(CACNA1H):c.5655G>A (p.Ala1885=)
|
rs58632975
|
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.5173+18C>T
|
rs373269618
|
0.00089
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_021098.3(CACNA1H):c.1213-11C>T
|
rs57772860
|
0.00088
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00086
|
NM_021098.3(CACNA1H):c.3364-3C>T
|
rs57079020
|
0.00086
|
NM_013335.4(GMPPA):c.489+16G>A
|
rs202131537
|
0.00085
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_021098.3(CACNA1H):c.2451+20C>T
|
rs144765479
|
0.00083
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)
|
rs200327514
|
0.00082
|
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)
|
rs193922096
|
0.00080
|
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=)
|
rs200569619
|
0.00080
|
NM_000383.4(AIRE):c.1215G>A (p.Pro405=)
|
rs72650676
|
0.00078
|
NM_021098.3(CACNA1H):c.3744+17G>A
|
rs187187164
|
0.00077
|
NM_004168.4(SDHA):c.1260+13G>T
|
rs185239026
|
0.00076
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=)
|
rs57606792
|
0.00073
|
NM_021098.3(CACNA1H):c.804-8A>G
|
rs367708036
|
0.00073
|
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln)
|
rs58594334
|
0.00072
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_021098.3(CACNA1H):c.5244+17C>T
|
rs201348517
|
0.00072
|
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met)
|
rs28365116
|
0.00071
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)
|
rs79212994
|
0.00068
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=)
|
rs371026871
|
0.00068
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
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_000383.4(AIRE):c.348G>A (p.Pro116=)
|
rs74162060
|
0.00066
|
NM_021098.3(CACNA1H):c.6048+18C>A
|
rs72552057
|
0.00066
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_021098.3(CACNA1H):c.3364-14C>A
|
rs372807603
|
0.00063
|
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=)
|
rs371762447
|
0.00063
|
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)
|
rs374421144
|
0.00063
|
NM_001395413.1(POR):c.675G>A (p.Pro225=)
|
rs72555510
|
0.00062
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_004168.4(SDHA):c.894A>G (p.Thr298=)
|
rs774584410
|
0.00061
|
NM_013335.4(GMPPA):c.756-10C>T
|
rs368738474
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000383.4(AIRE):c.1503+16G>A
|
rs565087801
|
0.00058
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=)
|
rs111986908
|
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.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
NM_004168.4(SDHA):c.600A>G (p.Leu200=)
|
rs201967413
|
0.00056
|
NM_000383.4(AIRE):c.1476C>T (p.Pro492=)
|
rs72650679
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu)
|
rs200832286
|
0.00054
|
NM_021098.3(CACNA1H):c.3845+8G>A
|
rs200291203
|
0.00054
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00053
|
NM_021098.3(CACNA1H):c.3970-6C>T
|
rs200403676
|
0.00053
|
NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu)
|
rs181892888
|
0.00051
|
NM_017841.4(SDHAF2):c.309C>T (p.Asn103=)
|
rs184314049
|
0.00050
|
NM_021098.3(CACNA1H):c.1218C>T (p.Gly406=)
|
rs375730044
|
0.00050
|
NM_021098.3(CACNA1H):c.2546C>T (p.Pro849Leu)
|
rs571237069
|
0.00050
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)
|
rs142135772
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=)
|
rs749735503
|
0.00049
|
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)
|
rs139415350
|
0.00048
|
NM_001370259.2(MEN1):c.1049+9C>T
|
rs200517349
|
0.00048
|
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys)
|
rs374141883
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_021098.3(CACNA1H):c.3969+20C>T
|
rs201422742
|
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_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000383.4(AIRE):c.1567-18C>T
|
rs372108131
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
NM_013335.4(GMPPA):c.858T>C (p.Asn286=)
|
rs145760617
|
0.00047
|
NM_021098.3(CACNA1H):c.5874C>T (p.Ala1958=)
|
rs530638249
|
0.00047
|
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=)
|
rs372309740
|
0.00046
|
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_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
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_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)
|
rs373620549
|
0.00045
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)
|
rs188765261
|
0.00044
|
NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=)
|
rs142856193
|
0.00043
|
NM_021098.3(CACNA1H):c.4476+15C>T
|
rs201891003
|
0.00043
|
NM_001395413.1(POR):c.898C>T (p.Leu300Phe)
|
rs201649877
|
0.00042
|
NM_021098.3(CACNA1H):c.3845+11C>T
|
rs58080058
|
0.00042
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
NM_000383.4(AIRE):c.1437G>A (p.Val479=)
|
rs181029582
|
0.00041
|
NM_001395413.1(POR):c.1227C>T (p.Ser409=)
|
rs41301424
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=)
|
rs58304047
|
0.00041
|
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=)
|
rs370805573
|
0.00041
|
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=)
|
rs57670193
|
0.00041
|
NM_021098.3(CACNA1H):c.7057G>A (p.Val2353Met)
|
rs150601404
|
0.00041
|
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)
|
rs79829712
|
0.00041
|
NM_021098.3(CACNA1H):c.1213-7G>A
|
rs372752869
|
0.00040
|
NM_021098.3(CACNA1H):c.5836C>T (p.Arg1946Cys)
|
rs57429153
|
0.00040
|
NM_000383.4(AIRE):c.1279-19G>A
|
rs369136366
|
0.00039
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_001370259.2(MEN1):c.18C>T (p.Ala6=)
|
rs369348210
|
0.00039
|
NM_021098.3(CACNA1H):c.4986C>T (p.Phe1662=)
|
rs60938322
|
0.00039
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)
|
rs377740271
|
0.00036
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00036
|
NM_021098.3(CACNA1H):c.3970-5G>A
|
rs202115678
|
0.00036
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
NM_000383.4(AIRE):c.521G>A (p.Arg174His)
|
rs145732243
|
0.00035
|
NM_013335.4(GMPPA):c.366C>G (p.Pro122=)
|
rs186735505
|
0.00035
|
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)
|
rs185931852
|
0.00034
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
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_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
|
rs370710427
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe)
|
rs60534546
|
0.00033
|
NM_021098.3(CACNA1H):c.3846-16G>A
|
rs764918796
|
0.00033
|
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)
|
rs200377867
|
0.00032
|
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.3555G>A (p.Ala1185=)
|
rs370039255
|
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.2907+18C>T
|
rs370510626
|
0.00031
|
NM_021098.3(CACNA1H):c.3745-17G>A
|
rs201602467
|
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.6531C>T (p.Pro2177=)
|
rs368284672
|
0.00031
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
NM_021098.3(CACNA1H):c.3618G>A (p.Pro1206=)
|
rs771412437
|
0.00030
|
NM_021098.3(CACNA1H):c.4566+18G>A
|
rs376034289
|
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_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
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.2605G>A (p.Val869Ile)
|
rs531253297
|
0.00029
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln)
|
rs370079169
|
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_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp)
|
rs74162063
|
0.00028
|
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)
|
rs138077680
|
0.00028
|
NM_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.1310G>A (p.Arg437Gln)
|
rs59461207
|
0.00027
|
NM_021098.3(CACNA1H):c.2003-5C>T
|
rs369119012
|
0.00027
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
NM_000383.4(AIRE):c.996-7C>T
|
rs568895777
|
0.00026
|
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.1389C>T (p.Tyr463=)
|
rs375590164
|
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.3154+13G>A
|
rs376515304
|
0.00026
|
NM_021098.3(CACNA1H):c.3745-18C>T
|
rs570915422
|
0.00026
|
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln)
|
rs374710554
|
0.00026
|
NM_021098.3(CACNA1H):c.713T>G (p.Phe238Cys)
|
rs59084089
|
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_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_017841.4(SDHAF2):c.63A>G (p.Leu21=)
|
rs191513932
|
0.00025
|
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=)
|
rs372975893
|
0.00025
|
NM_021098.3(CACNA1H):c.5989G>A (p.Ala1997Thr)
|
rs376628149
|
0.00025
|
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer)
|
rs774660673
|
0.00025
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
NM_000383.4(AIRE):c.1344C>T (p.His448=)
|
rs201131119
|
0.00024
|
NM_000383.4(AIRE):c.1483C>T (p.Leu495=)
|
rs376909088
|
0.00024
|
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)
|
rs140835367
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
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.2604-17C>A
|
rs781633068
|
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_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser)
|
rs200675829
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)
|
rs146810389
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
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.379G>T (p.Glu127Ter)
|
rs761719764
|
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.342G>T (p.Lys114Asn)
|
rs142788946
|
0.00022
|
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.242+19G>A
|
rs201263031
|
0.00022
|
NM_013335.4(GMPPA):c.921C>T (p.Ile307=)
|
rs145170112
|
0.00022
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
NM_021098.3(CACNA1H):c.177C>T (p.Gly59=)
|
rs775960864
|
0.00022
|
NM_021098.3(CACNA1H):c.1782C>T (p.Ala594=)
|
rs772111884
|
0.00022
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
NM_021098.3(CACNA1H):c.6049-3C>T
|
rs143900018
|
0.00022
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
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.314T>G (p.Val105Gly)
|
rs57552791
|
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.463A>T (p.Met155Leu)
|
rs1045818263
|
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_000383.4(AIRE):c.169C>G (p.Gln57Glu)
|
rs200955183
|
0.00020
|
NM_000383.4(AIRE):c.996-18T>C
|
rs78245838
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_013335.4(GMPPA):c.495G>A (p.Leu165=)
|
rs181901772
|
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+6C>T
|
rs371847563
|
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_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
NM_021098.3(CACNA1H):c.2216G>A (p.Arg739His)
|
rs372759314
|
0.00019
|
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)
|
rs202019417
|
0.00019
|
NM_021098.3(CACNA1H):c.3363+6G>A
|
rs574199321
|
0.00019
|
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn)
|
rs552269381
|
0.00019
|
NM_021098.3(CACNA1H):c.4759+8G>A
|
rs199997129
|
0.00019
|
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)
|
rs138233092
|
0.00018
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
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.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
NM_021098.3(CACNA1H):c.4860C>T (p.Asp1620=)
|
rs201309183
|
0.00018
|
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
|
rs149609996
|
0.00017
|
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.2542G>A (p.Gly848Ser)
|
rs374272094
|
0.00017
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.3063+18G>A
|
rs759182769
|
0.00017
|
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=)
|
rs543668675
|
0.00017
|
NM_021098.3(CACNA1H):c.4038+14C>T
|
rs537875566
|
0.00017
|
NM_021098.3(CACNA1H):c.4777+5C>T
|
rs370513262
|
0.00017
|
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=)
|
rs61700478
|
0.00017
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)
|
rs376901046
|
0.00016
|
NM_000383.4(AIRE):c.137C>T (p.Thr46Met)
|
rs758870962
|
0.00016
|
NM_000383.4(AIRE):c.180C>T (p.His60=)
|
rs201591958
|
0.00016
|
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys)
|
rs141480813
|
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.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_001395413.1(POR):c.1661-16G>A
|
rs377723544
|
0.00016
|
NM_001395413.1(POR):c.506C>T (p.Ala169Val)
|
rs374967948
|
0.00016
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
NM_003000.3(SDHB):c.642+17T>C
|
rs200597595
|
0.00016
|
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)
|
rs141802836
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
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.3846-8C>T
|
rs552720385
|
0.00016
|
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)
|
rs200709671
|
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.5468G>A (p.Arg1823His)
|
rs370384766
|
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.6244C>T (p.Arg2082Trp)
|
rs771719773
|
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_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)
|
rs553396434
|
0.00015
|
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_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
NM_001395413.1(POR):c.1776C>T (p.Asn592=)
|
rs782559723
|
0.00015
|
NM_001395413.1(POR):c.793C>T (p.Arg265Trp)
|
rs200471958
|
0.00015
|
NM_001395413.1(POR):c.822-18T>G
|
rs377191310
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
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.5521G>A (p.Val1841Met)
|
rs370975488
|
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_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
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.1477G>A (p.Ala493Thr)
|
rs561652010
|
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_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)
|
rs774296730
|
0.00014
|
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001395413.1(POR):c.1700G>A (p.Arg567His)
|
rs372955296
|
0.00014
|
NM_001395413.1(POR):c.2009G>A (p.Arg670His)
|
rs376693603
|
0.00014
|
NM_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.1119+6C>T
|
rs372159580
|
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.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_021098.3(CACNA1H):c.2622G>T (p.Gly874=)
|
rs61747533
|
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.5665G>A (p.Gly1889Arg)
|
rs201018826
|
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_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp)
|
rs781932570
|
0.00013
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
NM_001395413.1(POR):c.149A>T (p.Glu50Val)
|
rs376145249
|
0.00013
|
NM_001395413.1(POR):c.335C>T (p.Ala112Val)
|
rs199634961
|
0.00013
|
NM_001395413.1(POR):c.391G>A (p.Ala131Thr)
|
rs201365892
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
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.5832C>T (p.His1944=)
|
rs372529098
|
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.1354C>T (p.Arg452Trp)
|
rs368061976
|
0.00012
|
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)
|
rs782093609
|
0.00012
|
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu)
|
rs143952576
|
0.00012
|
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys)
|
rs770842444
|
0.00012
|
NM_000475.5(NR0B1):c.96G>C (p.Thr32=)
|
rs752999448
|
0.00012
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_004168.4(SDHA):c.1770C>T (p.Gly590=)
|
rs142457602
|
0.00012
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
NM_017841.4(SDHAF2):c.430G>A (p.Ala144Thr)
|
rs572576746
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)
|
rs368956894
|
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_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
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.1235C>T (p.Ser412Leu)
|
rs368331265
|
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_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)
|
rs559635859
|
0.00011
|
NM_001395413.1(POR):c.1419G>A (p.Ala473=)
|
rs782722572
|
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_001395413.1(POR):c.1867G>A (p.Gly623Ser)
|
rs369181144
|
0.00011
|
NM_001395413.1(POR):c.710G>A (p.Gly237Asp)
|
rs782746344
|
0.00011
|
NM_002382.5(MAX):c.426G>A (p.Ser142=)
|
rs145787299
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_004168.4(SDHA):c.621+16T>C
|
rs769390635
|
0.00011
|
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)
|
rs549821547
|
0.00011
|
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=)
|
rs375894182
|
0.00011
|
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)
|
rs41292281
|
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.1891G>A (p.Gly631Arg)
|
rs369898856
|
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.2113C>T (p.Arg705Cys)
|
rs56930579
|
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.300-8G>A
|
rs3751662
|
0.00011
|
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)
|
rs374847612
|
0.00011
|
NM_021098.3(CACNA1H):c.3744+8C>T
|
rs373354560
|
0.00011
|
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met)
|
rs747265858
|
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.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
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.1115C>T (p.Ser372Leu)
|
rs202237214
|
0.00010
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)
|
rs193922417
|
0.00010
|
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
|
rs752687905
|
0.00010
|
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
|
rs200899780
|
0.00010
|
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)
|
rs74162062
|
0.00010
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
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.1509C>T (p.Asn503=)
|
rs782397055
|
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_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_013335.4(GMPPA):c.345T>C (p.Ala115=)
|
rs761791232
|
0.00010
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=)
|
rs370035989
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=)
|
rs755382298
|
0.00010
|
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)
|
rs370675810
|
0.00010
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
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.4739G>A (p.Arg1580His)
|
rs200627008
|
0.00010
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_021098.3(CACNA1H):c.5244+10G>T
|
rs377293771
|
0.00010
|
NM_021098.3(CACNA1H):c.5295G>A (p.Ala1765=)
|
rs529851125
|
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.1095+2T>C
|
rs760280615
|
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.485C>T (p.Pro162Leu)
|
rs138949170
|
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_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.468G>A (p.Leu156=)
|
rs782013669
|
0.00009
|
NM_001395413.1(POR):c.571C>T (p.Arg191Trp)
|
rs782025961
|
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.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
|
rs745438072
|
0.00009
|
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)
|
rs151043830
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_017849.4(TMEM127):c.522C>T (p.Ala174=)
|
rs367951215
|
0.00009
|
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
|
rs374363044
|
0.00009
|
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
|
rs932161061
|
0.00009
|
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu)
|
rs771714007
|
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.1942C>T (p.Pro648Ser)
|
rs373669637
|
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.3300C>T (p.Leu1100=)
|
rs568667163
|
0.00009
|
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=)
|
rs958144782
|
0.00009
|
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys)
|
rs756154211
|
0.00009
|
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
|
rs775405041
|
0.00009
|
NM_021098.3(CACNA1H):c.3744+9G>A
|
rs377367672
|
0.00009
|
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln)
|
rs949170696
|
0.00009
|
NM_021098.3(CACNA1H):c.433G>A (p.Ala145Thr)
|
rs200483658
|
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.5081T>C (p.Met1694Thr)
|
rs375015931
|
0.00009
|
NM_021098.3(CACNA1H):c.543G>A (p.Ala181=)
|
rs781049180
|
0.00009
|
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro)
|
rs61742096
|
0.00009
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu)
|
rs535814707
|
0.00009
|
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=)
|
rs368713417
|
0.00009
|
NM_021098.3(CACNA1H):c.6808C>T (p.Pro2270Ser)
|
rs369693777
|
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.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
NM_000383.4(AIRE):c.1203_1278+28del
|
rs1568929576
|
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.1085C>T (p.Pro362Leu)
|
rs373022822
|
0.00008
|
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile)
|
rs782402961
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_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.1089C>T (p.His363=)
|
rs368488126
|
0.00008
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_004168.4(SDHA):c.552G>A (p.Gly184=)
|
rs147444427
|
0.00008
|
NM_017841.4(SDHAF2):c.330C>T (p.Asn110=)
|
rs779335034
|
0.00008
|
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
|
rs1249001227
|
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.149C>T (p.Pro50Leu)
|
rs746716155
|
0.00008
|
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His)
|
rs200791167
|
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.3439A>G (p.Ser1147Gly)
|
rs780122141
|
0.00008
|
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser)
|
rs556556052
|
0.00008
|
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)
|
rs780831084
|
0.00008
|
NM_021098.3(CACNA1H):c.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.5040-3C>T
|
rs769178587
|
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.5976C>T (p.Gly1992=)
|
rs367929249
|
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.718G>A (p.Val240Ile)
|
rs369630836
|
0.00008
|
NM_021098.3(CACNA1H):c.801C>T (p.Val267=)
|
rs372726042
|
0.00008
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000033.4(ABCD1):c.1865+16C>T
|
rs782719238
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000033.4(ABCD1):c.483G>T (p.Ser161=)
|
rs369052808
|
0.00007
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu)
|
rs374475349
|
0.00007
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
NM_000383.4(AIRE):c.564C>G (p.Val188=)
|
rs201650973
|
0.00007
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
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_001395413.1(POR):c.1966G>A (p.Ala656Thr)
|
rs373737641
|
0.00007
|
NM_002382.5(MAX):c.25G>T (p.Val9Leu)
|
rs201743423
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003000.3(SDHB):c.225T>C (p.Ala75=)
|
rs201762207
|
0.00007
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
0.00007
|
NM_004168.4(SDHA):c.1065-4C>A
|
rs575007678
|
0.00007
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)
|
rs745806762
|
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.1543C>T (p.His515Tyr)
|
rs368210728
|
0.00007
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
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.3507C>T (p.Gly1169=)
|
rs200522574
|
0.00007
|
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=)
|
rs753767261
|
0.00007
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
NM_021098.3(CACNA1H):c.4394G>A (p.Arg1465Lys)
|
rs562634730
|
0.00007
|
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr)
|
rs374265107
|
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.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=)
|
rs774253114
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.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.1103C>T (p.Pro368Leu)
|
rs552129156
|
0.00006
|
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)
|
rs771790456
|
0.00006
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
NM_000383.4(AIRE):c.1326C>T (p.Asp442=)
|
rs750033525
|
0.00006
|
NM_000383.4(AIRE):c.1527C>T (p.Pro509=)
|
rs746856788
|
0.00006
|
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
|
rs753460287
|
0.00006
|
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln)
|
rs200359179
|
0.00006
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
NM_000383.4(AIRE):c.756G>A (p.Pro252=)
|
rs765738882
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000383.4(AIRE):c.819G>C (p.Leu273=)
|
rs756188438
|
0.00006
|
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)
|
rs371364206
|
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.803A>G (p.Tyr268Cys)
|
rs773500082
|
0.00006
|
NM_001370259.2(MEN1):c.825-11T>C
|
rs375364751
|
0.00006
|
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys)
|
rs202243657
|
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.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly)
|
rs781795917
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
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_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
NM_002382.5(MAX):c.171+4A>G
|
rs376941115
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)
|
rs934514080
|
0.00006
|
NM_003001.5(SDHC):c.179+10G>A
|
rs532455044
|
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.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
NM_017841.4(SDHAF2):c.13A>G (p.Thr5Ala)
|
rs775763888
|
0.00006
|
NM_017841.4(SDHAF2):c.37-18G>A
|
rs374796679
|
0.00006
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_021098.3(CACNA1H):c.1213-8C>T
|
rs745805314
|
0.00006
|
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys)
|
rs765665281
|
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.1693G>A (p.Gly565Arg)
|
rs776058661
|
0.00006
|
NM_021098.3(CACNA1H):c.1755G>A (p.Pro585=)
|
rs375390442
|
0.00006
|
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)
|
rs147702970
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.2296A>T (p.Arg766Trp)
|
rs573493037
|
0.00006
|
NM_021098.3(CACNA1H):c.240C>T (p.Phe80=)
|
rs772150091
|
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.3060G>A (p.Ala1020=)
|
rs369924266
|
0.00006
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
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.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
NM_021098.3(CACNA1H):c.3471C>T (p.Arg1157=)
|
rs777626104
|
0.00006
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=)
|
rs555890424
|
0.00006
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
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.3931A>G (p.Ile1311Val)
|
rs754671059
|
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.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp)
|
rs373867411
|
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.5024G>A (p.Arg1675Gln)
|
rs149367557
|
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.5208C>T (p.Arg1736=)
|
rs112395878
|
0.00006
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
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.5467C>T (p.Arg1823Cys)
|
rs60760436
|
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.5519T>G (p.Phe1840Cys)
|
rs755405205
|
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.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=)
|
rs765457704
|
0.00006
|
NM_021098.3(CACNA1H):c.6001C>T (p.Arg2001Trp)
|
rs763114755
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
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.6388C>T (p.Arg2130Trp)
|
rs771195242
|
0.00006
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
NM_021098.3(CACNA1H):c.6429C>T (p.Phe2143=)
|
rs565607103
|
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_021098.3(CACNA1H):c.936C>T (p.Arg312=)
|
rs780299000
|
0.00006
|
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)
|
rs367584657
|
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.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
|
rs782197275
|
0.00005
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser)
|
rs554591629
|
0.00005
|
NM_000383.4(AIRE):c.1107G>T (p.Gly369=)
|
rs767432975
|
0.00005
|
NM_000383.4(AIRE):c.1367G>A (p.Arg456His)
|
rs554954634
|
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.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
|
rs766116884
|
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.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001395413.1(POR):c.137A>G (p.Lys46Arg)
|
rs782289780
|
0.00005
|
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)
|
rs72557947
|
0.00005
|
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)
|
rs782814705
|
0.00005
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
NM_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_003000.3(SDHB):c.97G>A (p.Ala33Thr)
|
rs777898500
|
0.00005
|
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)
|
rs772450693
|
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.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.1653G>A (p.Thr551=)
|
rs761927291
|
0.00005
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
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_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_013335.4(GMPPA):c.138+9_138+10del
|
rs757832477
|
0.00005
|
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)
|
rs147832114
|
0.00005
|
NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser)
|
rs376560419
|
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.1067A>G (p.Asn356Ser)
|
rs1967723771
|
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.1441C>T (p.Arg481Cys)
|
rs577233623
|
0.00005
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)
|
rs994418105
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu)
|
rs761877111
|
0.00005
|
NM_021098.3(CACNA1H):c.238T>G (p.Phe80Val)
|
rs1372002770
|
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.2842G>A (p.Gly948Arg)
|
rs763407611
|
0.00005
|
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile)
|
rs768438272
|
0.00005
|
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu)
|
rs765181693
|
0.00005
|
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
|
rs752799249
|
0.00005
|
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=)
|
rs560635024
|
0.00005
|
NM_021098.3(CACNA1H):c.3155-4G>A
|
rs543267343
|
0.00005
|
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)
|
rs373762102
|
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.3861C>T (p.Cys1287=)
|
rs377055233
|
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.4558G>A (p.Asp1520Asn)
|
rs555853603
|
0.00005
|
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
|
rs759669950
|
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.5635G>A (p.Glu1879Lys)
|
rs377103385
|
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.5823G>A (p.Ser1941=)
|
rs377279064
|
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.6014G>A (p.Arg2005His)
|
rs368553931
|
0.00005
|
NM_021098.3(CACNA1H):c.6426C>T (p.Gly2142=)
|
rs558837787
|
0.00005
|
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln)
|
rs762634881
|
0.00005
|
NM_021098.3(CACNA1H):c.6504G>A (p.Ala2168=)
|
rs751933126
|
0.00005
|
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)
|
rs771909122
|
0.00005
|
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu)
|
rs748432349
|
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.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
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.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000033.4(ABCD1):c.507C>T (p.His169=)
|
rs782525046
|
0.00004
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
NM_000033.4(ABCD1):c.900+10G>C
|
rs1177363482
|
0.00004
|
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser)
|
rs1267538837
|
0.00004
|
NM_000383.4(AIRE):c.1279-8T>G
|
rs374358283
|
0.00004
|
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr)
|
rs758446796
|
0.00004
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met)
|
rs775349581
|
0.00004
|
NM_000383.4(AIRE):c.1458G>A (p.Gly486=)
|
rs774298250
|
0.00004
|
NM_000383.4(AIRE):c.1503+10G>A
|
rs1319625944
|
0.00004
|
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
|
rs151049459
|
0.00004
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
|
rs370599883
|
0.00004
|
NM_000383.4(AIRE):c.488C>A (p.Pro163His)
|
rs771592755
|
0.00004
|
NM_000383.4(AIRE):c.531C>T (p.Leu177=)
|
rs538568691
|
0.00004
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00004
|
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser)
|
rs139620961
|
0.00004
|
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro)
|
rs761025044
|
0.00004
|
NM_000383.4(AIRE):c.740G>A (p.Arg247His)
|
rs763487370
|
0.00004
|
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
|
rs202027254
|
0.00004
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
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.1434C>T (p.Gly478=)
|
rs200280309
|
0.00004
|
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=)
|
rs749265222
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
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.774G>C (p.Gln258His)
|
rs374659656
|
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.1418C>T (p.Ala473Val)
|
rs782156085
|
0.00004
|
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser)
|
rs565343242
|
0.00004
|
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys)
|
rs782533830
|
0.00004
|
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)
|
rs1320059073
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser)
|
rs779082897
|
0.00004
|
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys)
|
rs782247167
|
0.00004
|
NM_001395413.1(POR):c.1939G>A (p.Val647Met)
|
rs148175064
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.34G>A (p.Val12Met)
|
rs369118442
|
0.00004
|
NM_001395413.1(POR):c.588C>T (p.Gly196=)
|
rs1489904713
|
0.00004
|
NM_001395413.1(POR):c.633-8C>T
|
rs782533498
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_001395413.1(POR):c.861C>T (p.Thr287=)
|
rs782249427
|
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_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.530G>A (p.Arg177His)
|
rs150437793
|
0.00004
|
NM_003000.3(SDHB):c.552C>T (p.Tyr184=)
|
rs202098600
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)
|
rs186768244
|
0.00004
|
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp)
|
rs978019587
|
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.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.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.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
NM_004168.4(SDHA):c.1572C>T (p.Ala524=)
|
rs185679709
|
0.00004
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
NM_004168.4(SDHA):c.1929C>T (p.Pro643=)
|
rs761201589
|
0.00004
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.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.448G>A (p.Val150Met)
|
rs542980860
|
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.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
NM_004168.4(SDHA):c.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_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)
|
rs767718283
|
0.00004
|
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)
|
rs753112469
|
0.00004
|
NM_013335.4(GMPPA):c.516C>T (p.Ser172=)
|
rs765824301
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)
|
rs532255760
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.371-12C>G
|
rs771792041
|
0.00004
|
NM_017841.4(SDHAF2):c.496C>T (p.Arg166Cys)
|
rs968303021
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.213G>A (p.Val71=)
|
rs777169152
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
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.1000C>T (p.Arg334Cys)
|
rs371658961
|
0.00004
|
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)
|
rs1459266876
|
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.1315C>T (p.Arg439Cys)
|
rs756550215
|
0.00004
|
NM_021098.3(CACNA1H):c.1329C>T (p.Asn443=)
|
rs368405304
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys)
|
rs1040565692
|
0.00004
|
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
|
rs528341556
|
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.175G>T (p.Gly59Cys)
|
rs1367396955
|
0.00004
|
NM_021098.3(CACNA1H):c.1812G>A (p.Leu604=)
|
rs751089816
|
0.00004
|
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs)
|
rs759709148
|
0.00004
|
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)
|
rs747807971
|
0.00004
|
NM_021098.3(CACNA1H):c.1920G>A (p.Pro640=)
|
rs370824503
|
0.00004
|
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
|
rs768565046
|
0.00004
|
NM_021098.3(CACNA1H):c.2026C>A (p.Leu676Met)
|
rs776134781
|
0.00004
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)
|
rs367610523
|
0.00004
|
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
|
rs559573879
|
0.00004
|
NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val)
|
rs900768678
|
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.2455G>A (p.Glu819Lys)
|
rs375165169
|
0.00004
|
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
|
rs777617840
|
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.2871C>T (p.Phe957=)
|
rs574604085
|
0.00004
|
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=)
|
rs769118582
|
0.00004
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
NM_021098.3(CACNA1H):c.300-6C>T
|
rs755354027
|
0.00004
|
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn)
|
rs745354512
|
0.00004
|
NM_021098.3(CACNA1H):c.3154+3G>A
|
rs374267602
|
0.00004
|
NM_021098.3(CACNA1H):c.3228C>T (p.Leu1076=)
|
rs113925563
|
0.00004
|
NM_021098.3(CACNA1H):c.3313C>T (p.Arg1105Cys)
|
rs370833327
|
0.00004
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg)
|
rs759262489
|
0.00004
|
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)
|
rs1002596641
|
0.00004
|
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)
|
rs61294616
|
0.00004
|
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)
|
rs758674093
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3605G>A (p.Arg1202Gln)
|
rs745360721
|
0.00004
|
NM_021098.3(CACNA1H):c.3613C>T (p.Arg1205Trp)
|
rs779622633
|
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.3709G>A (p.Glu1237Lys)
|
rs973149799
|
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.3744C>T (p.Asp1248=)
|
rs747200195
|
0.00004
|
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
|
rs749122105
|
0.00004
|
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln)
|
rs764530568
|
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.412G>A (p.Ala138Thr)
|
rs931243903
|
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.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val)
|
rs777667628
|
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.4448G>A (p.Arg1483His)
|
rs774455553
|
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.4720G>C (p.Glu1574Gln)
|
rs781126604
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
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.4787G>A (p.Arg1596His)
|
rs1458781875
|
0.00004
|
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser)
|
rs769175169
|
0.00004
|
NM_021098.3(CACNA1H):c.4939G>A (p.Glu1647Lys)
|
rs763211250
|
0.00004
|
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile)
|
rs535413428
|
0.00004
|
NM_021098.3(CACNA1H):c.5064C>T (p.Ile1688=)
|
rs368182320
|
0.00004
|
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser)
|
rs946594196
|
0.00004
|
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val)
|
rs371121613
|
0.00004
|
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)
|
rs747789914
|
0.00004
|
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr)
|
rs61372944
|
0.00004
|
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)
|
rs372601783
|
0.00004
|
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser)
|
rs72552051
|
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.5611C>T (p.Arg1871Trp)
|
rs866836108
|
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.5749C>T (p.Arg1917Cys)
|
rs552691524
|
0.00004
|
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr)
|
rs761696834
|
0.00004
|
NM_021098.3(CACNA1H):c.5977G>A (p.Glu1993Lys)
|
rs529327549
|
0.00004
|
NM_021098.3(CACNA1H):c.6049-11C>T
|
rs764862065
|
0.00004
|
NM_021098.3(CACNA1H):c.6134C>T (p.Pro2045Leu)
|
rs775090579
|
0.00004
|
NM_021098.3(CACNA1H):c.6219C>T (p.Thr2073=)
|
rs757443856
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=)
|
rs369048631
|
0.00004
|
NM_021098.3(CACNA1H):c.6379G>A (p.Gly2127Ser)
|
rs745587324
|
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.6526G>A (p.Glu2176Lys)
|
rs768826048
|
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.6893G>A (p.Gly2298Glu)
|
rs769136587
|
0.00004
|
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile)
|
rs370867825
|
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.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_021098.3(CACNA1H):c.873C>T (p.Cys291=)
|
rs746367219
|
0.00004
|
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His)
|
rs371605781
|
0.00004
|
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)
|
rs766354453
|
0.00004
|
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=)
|
rs782548310
|
0.00003
|
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His)
|
rs782755297
|
0.00003
|
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg)
|
rs782242003
|
0.00003
|
NM_000033.4(ABCD1):c.1489-13G>T
|
rs782622708
|
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.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly)
|
rs781871257
|
0.00003
|
NM_000033.4(ABCD1):c.732G>A (p.Ser244=)
|
rs782643462
|
0.00003
|
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
|
rs782236148
|
0.00003
|
NM_000033.4(ABCD1):c.90C>T (p.His30=)
|
rs782195097
|
0.00003
|
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)
|
rs929430876
|
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.1481G>A (p.Arg494His)
|
rs528762050
|
0.00003
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
NM_000383.4(AIRE):c.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.659C>T (p.Ser220Phe)
|
rs753236604
|
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_000383.4(AIRE):c.872T>C (p.Leu291Pro)
|
rs767272852
|
0.00003
|
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile)
|
rs1029648118
|
0.00003
|
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
|
rs775921321
|
0.00003
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
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.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=)
|
rs546721780
|
0.00003
|
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser)
|
rs1204943413
|
0.00003
|
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=)
|
rs1114167530
|
0.00003
|
NM_001370259.2(MEN1):c.215C>A (p.Pro72His)
|
rs878856863
|
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.759G>A (p.Ser253=)
|
rs201829546
|
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_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
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.1270C>T (p.Arg424Trp)
|
rs782197760
|
0.00003
|
NM_001395413.1(POR):c.1390-14G>A
|
rs782583370
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.1660+5G>C
|
rs782407937
|
0.00003
|
NM_001395413.1(POR):c.1662C>T (p.Gly554=)
|
rs541657992
|
0.00003
|
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp)
|
rs72557950
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
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.316G>A (p.Gly106Arg)
|
rs372623440
|
0.00003
|
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
|
rs782681272
|
0.00003
|
NM_001395413.1(POR):c.723-13C>T
|
rs372119575
|
0.00003
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
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.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.200+4A>C
|
rs774908929
|
0.00003
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)
|
rs200973284
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_003000.3(SDHB):c.828G>A (p.Lys276=)
|
rs1260768784
|
0.00003
|
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)
|
rs1363555121
|
0.00003
|
NM_003001.5(SDHC):c.241+7A>G
|
rs878854586
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_003001.5(SDHC):c.461T>C (p.Val154Ala)
|
rs1378160712
|
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.107A>G (p.Gln36Arg)
|
rs759143732
|
0.00003
|
NM_003002.4(SDHD):c.118A>G (p.Ile40Val)
|
rs146276662
|
0.00003
|
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu)
|
rs149516118
|
0.00003
|
NM_003002.4(SDHD):c.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.38C>T (p.Ala13Val)
|
rs750080041
|
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.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)
|
rs200223188
|
0.00003
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=)
|
rs747249998
|
0.00003
|
NM_004168.4(SDHA):c.1664-20G>A
|
rs1310666225
|
0.00003
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
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.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
NM_004168.4(SDHA):c.18C>T (p.Gly6=)
|
rs775847689
|
0.00003
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
NM_004168.4(SDHA):c.1974G>T (p.Pro658=)
|
rs1042446
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
NM_004168.4(SDHA):c.770+9C>G
|
rs538621686
|
0.00003
|
NM_004168.4(SDHA):c.771-4C>T
|
rs1360537551
|
0.00003
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
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.248G>T (p.Cys83Phe)
|
rs982336783
|
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.391A>T (p.Ile131Leu)
|
rs773580529
|
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.221A>C (p.Tyr74Ser)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
NM_017849.4(TMEM127):c.288C>G (p.Ile96Met)
|
rs758726687
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_017849.4(TMEM127):c.398A>G (p.His133Arg)
|
rs587782203
|
0.00003
|
NM_017849.4(TMEM127):c.39C>T (p.Arg13=)
|
rs1060503975
|
0.00003
|
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met)
|
rs759138897
|
0.00003
|
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro)
|
rs772714957
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_017849.4(TMEM127):c.494A>G (p.His165Arg)
|
rs752030320
|
0.00003
|
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=)
|
rs201935270
|
0.00003
|
NM_021098.3(CACNA1H):c.1094G>T (p.Gly365Val)
|
rs772246879
|
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.1284G>T (p.Arg428=)
|
rs771004922
|
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.1799C>T (p.Ala600Val)
|
rs759349379
|
0.00003
|
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser)
|
rs747036748
|
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.1993G>A (p.Gly665Arg)
|
rs761785619
|
0.00003
|
NM_021098.3(CACNA1H):c.2003-6C>T
|
rs1435574238
|
0.00003
|
NM_021098.3(CACNA1H):c.2102C>T (p.Pro701Leu)
|
rs772486214
|
0.00003
|
NM_021098.3(CACNA1H):c.2208C>T (p.His736=)
|
rs376616017
|
0.00003
|
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
|
rs574809183
|
0.00003
|
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr)
|
rs747121461
|
0.00003
|
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met)
|
rs773952204
|
0.00003
|
NM_021098.3(CACNA1H):c.2451+4C>T
|
rs764605459
|
0.00003
|
NM_021098.3(CACNA1H):c.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.2632G>A (p.Gly878Ser)
|
rs547294711
|
0.00003
|
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys)
|
rs762653776
|
0.00003
|
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln)
|
rs748252386
|
0.00003
|
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met)
|
rs536557648
|
0.00003
|
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=)
|
rs761572907
|
0.00003
|
NM_021098.3(CACNA1H):c.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.2851G>A (p.Val951Met)
|
rs372479526
|
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.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro)
|
rs1369723667
|
0.00003
|
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg)
|
rs748550409
|
0.00003
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
|
rs373190026
|
0.00003
|
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)
|
rs775183925
|
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.3388G>A (p.Ala1130Thr)
|
rs772745734
|
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.3662T>C (p.Val1221Ala)
|
rs774661170
|
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.376G>A (p.Val126Ile)
|
rs150821225
|
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.4033G>C (p.Val1345Leu)
|
rs777795718
|
0.00003
|
NM_021098.3(CACNA1H):c.4038+5C>T
|
rs368592629
|
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.4070A>T (p.His1357Leu)
|
rs775971172
|
0.00003
|
NM_021098.3(CACNA1H):c.4140C>T (p.Val1380=)
|
rs746638320
|
0.00003
|
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
|
rs774773999
|
0.00003
|
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val)
|
rs772094785
|
0.00003
|
NM_021098.3(CACNA1H):c.4201C>T (p.Leu1401=)
|
rs1357359996
|
0.00003
|
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp)
|
rs772769994
|
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.4377C>T (p.Cys1459=)
|
rs777171317
|
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.4678A>G (p.Lys1560Glu)
|
rs1371741882
|
0.00003
|
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln)
|
rs560884609
|
0.00003
|
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp)
|
rs748925694
|
0.00003
|
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)
|
rs199669141
|
0.00003
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
NM_021098.3(CACNA1H):c.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.5020C>T (p.Arg1674Cys)
|
rs771932368
|
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.5144G>A (p.Arg1715His)
|
rs371577290
|
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.5294C>T (p.Ala1765Val)
|
rs781759793
|
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.5688G>A (p.Ala1896=)
|
rs58835716
|
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.5893G>A (p.Val1965Ile)
|
rs748947682
|
0.00003
|
NM_021098.3(CACNA1H):c.5913G>A (p.Pro1971=)
|
rs544401405
|
0.00003
|
NM_021098.3(CACNA1H):c.5944C>A (p.Pro1982Thr)
|
rs763018232
|
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.6038T>C (p.Leu2013Pro)
|
rs905456471
|
0.00003
|
NM_021098.3(CACNA1H):c.6049-4A>T
|
rs750777344
|
0.00003
|
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn)
|
rs949519905
|
0.00003
|
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys)
|
rs777952986
|
0.00003
|
NM_021098.3(CACNA1H):c.6193G>A (p.Ala2065Thr)
|
rs372558359
|
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.6262G>A (p.Gly2088Arg)
|
rs779925007
|
0.00003
|
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)
|
rs774769004
|
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.6492G>T (p.Glu2164Asp)
|
rs768879342
|
0.00003
|
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val)
|
rs776473889
|
0.00003
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu)
|
rs780870706
|
0.00003
|
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr)
|
rs774116060
|
0.00003
|
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
|
rs375586314
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr)
|
rs1231529131
|
0.00003
|
NM_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.851G>A (p.Gly284Asp)
|
rs767281564
|
0.00003
|
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=)
|
rs779012601
|
0.00003
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly)
|
rs1557054156
|
0.00002
|
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=)
|
rs727503786
|
0.00002
|
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)
|
rs375656638
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
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.1526A>G (p.Asn509Ser)
|
rs782158792
|
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.1747G>A (p.Val583Met)
|
rs1569541120
|
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.1790C>G (p.Ala597Gly)
|
rs782065134
|
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.389T>G (p.Phe130Cys)
|
rs1557052334
|
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.785C>T (p.Ser262Leu)
|
rs1204814114
|
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_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
NM_000033.4(ABCD1):c.901-4G>A
|
rs782306934
|
0.00002
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
0.00002
|
NM_000383.4(AIRE):c.1014C>G (p.Ser338=)
|
rs746054293
|
0.00002
|
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu)
|
rs758891043
|
0.00002
|
NM_000383.4(AIRE):c.1191G>T (p.Leu397=)
|
rs572680101
|
0.00002
|
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu)
|
rs754391375
|
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.1333C>T (p.Arg445Trp)
|
rs921069738
|
0.00002
|
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)
|
rs753878067
|
0.00002
|
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)
|
rs373383785
|
0.00002
|
NM_000383.4(AIRE):c.1401-7G>A
|
rs888720163
|
0.00002
|
NM_000383.4(AIRE):c.1434C>T (p.Asp478=)
|
rs575870442
|
0.00002
|
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
|
rs779510704
|
0.00002
|
NM_000383.4(AIRE):c.1503+7G>T
|
rs1161056630
|
0.00002
|
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)
|
rs201602355
|
0.00002
|
NM_000383.4(AIRE):c.1566+11C>A
|
rs200735043
|
0.00002
|
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys)
|
rs1416029492
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
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.232T>C (p.Trp78Arg)
|
rs179363880
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
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.607C>T (p.Arg203Ter)
|
rs755490967
|
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.790G>A (p.Ala264Thr)
|
rs746154390
|
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.1012C>G (p.Leu338Val)
|
rs759337318
|
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.1185+4A>G
|
rs863224809
|
0.00002
|
NM_001370259.2(MEN1):c.1185+5A>G
|
rs748700116
|
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.1633C>T (p.Pro545Ser)
|
rs1941510179
|
0.00002
|
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)
|
rs767677287
|
0.00002
|
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)
|
rs752747097
|
0.00002
|
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)
|
rs998337367
|
0.00002
|
NM_001370259.2(MEN1):c.352G>A (p.Val118Met)
|
rs1060499975
|
0.00002
|
NM_001370259.2(MEN1):c.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.883C>T (p.Arg295Trp)
|
rs1046929915
|
0.00002
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
NM_001370259.2(MEN1):c.993C>T (p.Asn331=)
|
rs370176253
|
0.00002
|
NM_001395413.1(POR):c.1033del (p.Val345fs)
|
rs1563433095
|
0.00002
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
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.1837C>T (p.Arg613Ter)
|
rs781946801
|
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.1973C>T (p.Ala658Val)
|
rs782753228
|
0.00002
|
NM_001395413.1(POR):c.572G>A (p.Arg191Gln)
|
rs769916309
|
0.00002
|
NM_001395413.1(POR):c.711C>T (p.Gly237=)
|
rs374115833
|
0.00002
|
NM_001395413.1(POR):c.772G>A (p.Val258Met)
|
rs1371752607
|
0.00002
|
NM_001395413.1(POR):c.892C>T (p.Arg298Cys)
|
rs200097755
|
0.00002
|
NM_001395413.1(POR):c.893G>A (p.Arg298His)
|
rs782125318
|
0.00002
|
NM_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.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.36+17C>T
|
rs571881861
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_002382.5(MAX):c.402C>T (p.Phe134=)
|
rs765370870
|
0.00002
|
NM_002382.5(MAX):c.403G>A (p.Asp135Asn)
|
rs201312694
|
0.00002
|
NM_002382.5(MAX):c.415G>A (p.Asp139Asn)
|
rs772397458
|
0.00002
|
NM_002382.5(MAX):c.63+8T>C
|
rs776724315
|
0.00002
|
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)
|
rs200418115
|
0.00002
|
NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)
|
rs200021702
|
0.00002
|
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)
|
rs771004483
|
0.00002
|
NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)
|
rs764089231
|
0.00002
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
NM_003000.3(SDHB):c.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.736A>G (p.Ile246Val)
|
rs146800605
|
0.00002
|
NM_003000.3(SDHB):c.739A>G (p.Met247Val)
|
rs200896502
|
0.00002
|
NM_003000.3(SDHB):c.765+13G>A
|
rs115561881
|
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_003000.3(SDHB):c.820A>G (p.Lys274Glu)
|
rs1273897502
|
0.00002
|
NM_003001.5(SDHC):c.197C>T (p.Ala66Val)
|
rs760572684
|
0.00002
|
NM_003001.5(SDHC):c.264G>A (p.Ser88=)
|
rs1277488324
|
0.00002
|
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala)
|
rs371462564
|
0.00002
|
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys)
|
rs759914119
|
0.00002
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_003001.5(SDHC):c.489T>C (p.Ser163=)
|
rs559747670
|
0.00002
|
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
|
rs752689382
|
0.00002
|
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
|
rs753724042
|
0.00002
|
NM_003002.4(SDHD):c.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.398C>A (p.Ala133Asp)
|
rs755584530
|
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.464T>A (p.Met155Lys)
|
rs1060503776
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003002.4(SDHD):c.52+8G>A
|
rs370761122
|
0.00002
|
NM_003002.4(SDHD):c.56T>C (p.Leu19Pro)
|
rs574698019
|
0.00002
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
NM_004168.4(SDHA):c.1134G>A (p.Thr378=)
|
rs370002515
|
0.00002
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)
|
rs768947225
|
0.00002
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
NM_004168.4(SDHA):c.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.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)
|
rs138277996
|
0.00002
|
NM_004168.4(SDHA):c.1419G>A (p.Glu473=)
|
rs898003329
|
0.00002
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
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.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
NM_004168.4(SDHA):c.150C>T (p.Ser50=)
|
rs140264486
|
0.00002
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
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.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.1656C>T (p.Phe552=)
|
rs1170030451
|
0.00002
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
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.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
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.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
NM_004168.4(SDHA):c.1755G>A (p.Arg585=)
|
rs760254364
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
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.445G>A (p.Ala149Thr)
|
rs575617625
|
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.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
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.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_004168.4(SDHA):c.825C>T (p.Asp275=)
|
rs1237373391
|
0.00002
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
NM_004168.4(SDHA):c.963T>C (p.Ser321=)
|
rs755235011
|
0.00002
|
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)
|
rs568570865
|
0.00002
|
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)
|
rs1251641134
|
0.00002
|
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)
|
rs781071244
|
0.00002
|
NM_017841.4(SDHAF2):c.133A>G (p.Lys45Glu)
|
rs368945911
|
0.00002
|
NM_017841.4(SDHAF2):c.156G>A (p.Leu52=)
|
rs773466310
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
NM_017841.4(SDHAF2):c.371-4G>T
|
rs775160119
|
0.00002
|
NM_017841.4(SDHAF2):c.427T>A (p.Phe143Ile)
|
rs755233768
|
0.00002
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
0.00002
|
NM_017849.4(TMEM127):c.114C>G (p.Ala38=)
|
rs771646015
|
0.00002
|
NM_017849.4(TMEM127):c.19G>A (p.Ala7Thr)
|
rs1390402715
|
0.00002
|
NM_017849.4(TMEM127):c.253A>G (p.Met85Val)
|
rs771261665
|
0.00002
|
NM_017849.4(TMEM127):c.267A>G (p.Thr89=)
|
rs773384410
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
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.427G>A (p.Val143Ile)
|
rs772153618
|
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_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_017849.4(TMEM127):c.615G>C (p.Glu205Asp)
|
rs1434849865
|
0.00002
|
NM_017849.4(TMEM127):c.620C>T (p.Ala207Val)
|
rs751044006
|
0.00002
|
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)
|
rs780992481
|
0.00002
|
NM_017849.4(TMEM127):c.80C>T (p.Pro27Leu)
|
rs983504110
|
0.00002
|
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His)
|
rs964941206
|
0.00002
|
NM_021098.3(CACNA1H):c.1006G>A (p.Ala336Thr)
|
rs754161411
|
0.00002
|
NM_021098.3(CACNA1H):c.1120-3C>T
|
rs559931034
|
0.00002
|
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=)
|
rs1338263000
|
0.00002
|
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)
|
rs375121203
|
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.1390G>A (p.Val464Met)
|
rs61910721
|
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.1501G>A (p.Gly501Arg)
|
rs748811873
|
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.1632C>T (p.Gly544=)
|
rs1040617300
|
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.1744A>G (p.Ile582Val)
|
rs757893642
|
0.00002
|
NM_021098.3(CACNA1H):c.1821G>T (p.Gly607=)
|
rs187675719
|
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.2129C>T (p.Pro710Leu)
|
rs547373648
|
0.00002
|
NM_021098.3(CACNA1H):c.2136T>C (p.Gly712=)
|
rs996560193
|
0.00002
|
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)
|
rs768306211
|
0.00002
|
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)
|
rs774313309
|
0.00002
|
NM_021098.3(CACNA1H):c.2169T>C (p.Asp723=)
|
rs374483400
|
0.00002
|
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys)
|
rs764438301
|
0.00002
|
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val)
|
rs1433384279
|
0.00002
|
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val)
|
rs1039258079
|
0.00002
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
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.2491G>A (p.Val831Met)
|
rs119454949
|
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.2656T>G (p.Phe886Val)
|
rs1482408749
|
0.00002
|
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His)
|
rs1356449722
|
0.00002
|
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly)
|
rs1035103368
|
0.00002
|
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=)
|
rs777961380
|
0.00002
|
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val)
|
rs1471872554
|
0.00002
|
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn)
|
rs751635916
|
0.00002
|
NM_021098.3(CACNA1H):c.2907+10G>A
|
rs781264742
|
0.00002
|
NM_021098.3(CACNA1H):c.2919G>A (p.Gln973=)
|
rs1297223730
|
0.00002
|
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala)
|
rs776860363
|
0.00002
|
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met)
|
rs769872866
|
0.00002
|
NM_021098.3(CACNA1H):c.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.3185C>T (p.Pro1062Leu)
|
rs1245328322
|
0.00002
|
NM_021098.3(CACNA1H):c.322C>G (p.Leu108Val)
|
rs746135723
|
0.00002
|
NM_021098.3(CACNA1H):c.3310C>T (p.Arg1104Trp)
|
rs1198273560
|
0.00002
|
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)
|
rs369475886
|
0.00002
|
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)
|
rs375742212
|
0.00002
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg)
|
rs763161866
|
0.00002
|
NM_021098.3(CACNA1H):c.3732C>T (p.Asp1244=)
|
rs755463348
|
0.00002
|
NM_021098.3(CACNA1H):c.3768A>G (p.Lys1256=)
|
rs1232013182
|
0.00002
|
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln)
|
rs557125328
|
0.00002
|
NM_021098.3(CACNA1H):c.3845+7C>T
|
rs371494399
|
0.00002
|
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys)
|
rs541678072
|
0.00002
|
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)
|
rs761199543
|
0.00002
|
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
|
rs776740325
|
0.00002
|
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val)
|
rs775456399
|
0.00002
|
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser)
|
rs368825972
|
0.00002
|
NM_021098.3(CACNA1H):c.3970-10C>T
|
rs377114648
|
0.00002
|
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe)
|
rs746834232
|
0.00002
|
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val)
|
rs371030255
|
0.00002
|
NM_021098.3(CACNA1H):c.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.41C>T (p.Pro14Leu)
|
rs1263557227
|
0.00002
|
NM_021098.3(CACNA1H):c.4224-11C>T
|
rs371952675
|
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.4549G>A (p.Val1517Met)
|
rs778002223
|
0.00002
|
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=)
|
rs375199752
|
0.00002
|
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln)
|
rs541249511
|
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.4906A>G (p.Met1636Val)
|
rs371096587
|
0.00002
|
NM_021098.3(CACNA1H):c.4929+9G>A
|
rs758205516
|
0.00002
|
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser)
|
rs759088401
|
0.00002
|
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met)
|
rs779872782
|
0.00002
|
NM_021098.3(CACNA1H):c.5112C>T (p.Ser1704=)
|
rs748750792
|
0.00002
|
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His)
|
rs3889063
|
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.5260C>T (p.Leu1754Phe)
|
rs369220355
|
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.5795A>C (p.Tyr1932Ser)
|
rs917012995
|
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.5980C>T (p.Pro1994Ser)
|
rs1014679279
|
0.00002
|
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu)
|
rs776422410
|
0.00002
|
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg)
|
rs563954985
|
0.00002
|
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)
|
rs372118811
|
0.00002
|
NM_021098.3(CACNA1H):c.6345C>T (p.Ala2115=)
|
rs529859576
|
0.00002
|
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys)
|
rs768078771
|
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.6398G>A (p.Arg2133His)
|
rs752385455
|
0.00002
|
NM_021098.3(CACNA1H):c.644-7C>T
|
rs545310896
|
0.00002
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
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.6590C>T (p.Pro2197Leu)
|
rs770865543
|
0.00002
|
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
|
rs754398374
|
0.00002
|
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=)
|
rs770681199
|
0.00002
|
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
|
rs761083620
|
0.00002
|
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met)
|
rs751787751
|
0.00002
|
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp)
|
rs770202267
|
0.00002
|
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)
|
rs778943919
|
0.00002
|
NM_021098.3(CACNA1H):c.6810G>A (p.Pro2270=)
|
rs113064034
|
0.00002
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_021098.3(CACNA1H):c.6933C>T (p.Pro2311=)
|
rs1385264146
|
0.00002
|
NM_021098.3(CACNA1H):c.6964C>T (p.Arg2322Trp)
|
rs987712309
|
0.00002
|
NM_021098.3(CACNA1H):c.793G>A (p.Ala265Thr)
|
rs768878179
|
0.00002
|
NM_021098.3(CACNA1H):c.823C>T (p.Leu275=)
|
rs778739975
|
0.00002
|
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)
|
rs372848579
|
0.00002
|
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)
|
rs774565789
|
0.00002
|
NM_021098.3(CACNA1H):c.876C>T (p.Ser292=)
|
rs376102066
|
0.00002
|
NM_021098.3(CACNA1H):c.906C>T (p.Cys302=)
|
rs554546755
|
0.00002
|
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)
|
rs377665479
|
0.00002
|
NM_021098.3(CACNA1H):c.922C>T (p.Arg308Cys)
|
rs764910199
|
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.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser)
|
rs1205548762
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=)
|
rs1205664363
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=)
|
rs782515233
|
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.1253G>A (p.Arg418Gln)
|
rs1046633404
|
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.1391G>A (p.Arg464Gln)
|
rs138902450
|
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.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=)
|
rs1557054320
|
0.00001
|
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=)
|
rs782704819
|
0.00001
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
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.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
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.1744G>A (p.Val582Ile)
|
rs76180859
|
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.1817C>T (p.Ser606Leu)
|
rs128624225
|
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.1915G>A (p.Val639Met)
|
rs782706738
|
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.2111C>T (p.Ala704Val)
|
rs782740513
|
0.00001
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys)
|
rs1557055441
|
0.00001
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser)
|
rs1290462360
|
0.00001
|
NM_000033.4(ABCD1):c.225C>T (p.Leu75=)
|
rs781883009
|
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.326T>C (p.Val109Ala)
|
rs782138372
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
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.508G>A (p.Ala170Thr)
|
rs782293513
|
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.673A>G (p.Thr225Ala)
|
rs1557052459
|
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.729C>G (p.Pro243=)
|
rs1557052503
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
NM_000033.4(ABCD1):c.786G>A (p.Ser262=)
|
rs1020447716
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val)
|
rs868992338
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
|
rs2091712106
|
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.1015A>G (p.Ser339Gly)
|
rs919219488
|
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.1063C>A (p.Pro355Thr)
|
rs1405678537
|
0.00001
|
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser)
|
rs1405678537
|
0.00001
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser)
|
rs200540137
|
0.00001
|
NM_000383.4(AIRE):c.1074G>A (p.Gln358=)
|
rs1294643656
|
0.00001
|
NM_000383.4(AIRE):c.1095+5G>T
|
rs1057522692
|
0.00001
|
NM_000383.4(AIRE):c.1096-16G>A
|
rs374995530
|
0.00001
|
NM_000383.4(AIRE):c.1096-1G>A
|
rs780906602
|
0.00001
|
NM_000383.4(AIRE):c.1098C>A (p.Leu366=)
|
rs769360966
|
0.00001
|
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)
|
rs1014398252
|
0.00001
|
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly)
|
rs758775963
|
0.00001
|
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu)
|
rs145243072
|
0.00001
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
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.118G>C (p.Glu40Gln)
|
rs867495755
|
0.00001
|
NM_000383.4(AIRE):c.1194G>A (p.Pro398=)
|
rs375536220
|
0.00001
|
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr)
|
rs1340047804
|
0.00001
|
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu)
|
rs769719554
|
0.00001
|
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala)
|
rs751963717
|
0.00001
|
NM_000383.4(AIRE):c.1233C>T (p.Ser411=)
|
rs1446995144
|
0.00001
|
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)
|
rs752398254
|
0.00001
|
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser)
|
rs199621393
|
0.00001
|
NM_000383.4(AIRE):c.1248C>G (p.Pro416=)
|
rs74162064
|
0.00001
|
NM_000383.4(AIRE):c.1249C>T (p.Leu417=)
|
rs1248107084
|
0.00001
|
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp)
|
rs1208287091
|
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.1278+1G>A
|
rs1184559866
|
0.00001
|
NM_000383.4(AIRE):c.1278+6C>T
|
rs372612211
|
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.1289C>T (p.Pro430Leu)
|
rs751271727
|
0.00001
|
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr)
|
rs1296392334
|
0.00001
|
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val)
|
rs531220961
|
0.00001
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
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.1345T>C (p.Cys449Arg)
|
rs957681340
|
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.1418G>A (p.Arg473Lys)
|
rs750662701
|
0.00001
|
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu)
|
rs754217318
|
0.00001
|
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg)
|
rs749111202
|
0.00001
|
NM_000383.4(AIRE):c.1467C>T (p.Ala489=)
|
rs1296834483
|
0.00001
|
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys)
|
rs1465595959
|
0.00001
|
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu)
|
rs1189029187
|
0.00001
|
NM_000383.4(AIRE):c.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.1520A>T (p.His507Leu)
|
rs373920616
|
0.00001
|
NM_000383.4(AIRE):c.1566+2T>A
|
rs1057516985
|
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.1619C>T (p.Ala540Val)
|
rs376731017
|
0.00001
|
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)
|
rs386833673
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.183C>T (p.Ala61=)
|
rs1471783563
|
0.00001
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.21A>G (p.Leu7=)
|
rs1347611962
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln)
|
rs1288735234
|
0.00001
|
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg)
|
rs777675955
|
0.00001
|
NM_000383.4(AIRE):c.308-12C>T
|
rs753353875
|
0.00001
|
NM_000383.4(AIRE):c.308-1G>C
|
rs764588340
|
0.00001
|
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
|
rs772511282
|
0.00001
|
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr)
|
rs755258600
|
0.00001
|
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr)
|
rs771314896
|
0.00001
|
NM_000383.4(AIRE):c.459C>T (p.Ser153=)
|
rs997396625
|
0.00001
|
NM_000383.4(AIRE):c.463+16G>C
|
rs761329134
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
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.51G>C (p.Glu17Asp)
|
rs1036995518
|
0.00001
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
NM_000383.4(AIRE):c.538+3G>A
|
rs557176517
|
0.00001
|
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala)
|
rs1185406745
|
0.00001
|
NM_000383.4(AIRE):c.624G>A (p.Gly208=)
|
rs769510002
|
0.00001
|
NM_000383.4(AIRE):c.627C>T (p.Ile209=)
|
rs775304437
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
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.653-9T>A
|
rs941927668
|
0.00001
|
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn)
|
rs975525470
|
0.00001
|
NM_000383.4(AIRE):c.789del (p.Ala264fs)
|
rs387906295
|
0.00001
|
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
|
rs775896896
|
0.00001
|
NM_000383.4(AIRE):c.798+5G>A
|
rs1490186498
|
0.00001
|
NM_000383.4(AIRE):c.799-7C>T
|
rs1287851004
|
0.00001
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr)
|
rs778148534
|
0.00001
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
NM_000383.4(AIRE):c.855C>T (p.Leu285=)
|
rs267606152
|
0.00001
|
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
|
rs375819189
|
0.00001
|
NM_000383.4(AIRE):c.891C>T (p.Asp297=)
|
rs527944302
|
0.00001
|
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys)
|
rs763636007
|
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.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
NM_000383.4(AIRE):c.993C>T (p.Pro331=)
|
rs761394248
|
0.00001
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)
|
rs990602963
|
0.00001
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
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.1004G>A (p.Arg335Gln)
|
rs764998893
|
0.00001
|
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=)
|
rs1060503796
|
0.00001
|
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)
|
rs377715802
|
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.1060T>C (p.Cys354Arg)
|
rs371503251
|
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.1136C>A (p.Ala379Glu)
|
rs1592640172
|
0.00001
|
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)
|
rs1225964479
|
0.00001
|
NM_001370259.2(MEN1):c.114C>G (p.Ser38=)
|
rs1252317486
|
0.00001
|
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)
|
rs761360623
|
0.00001
|
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)
|
rs773978650
|
0.00001
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr)
|
rs934222398
|
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.1207G>A (p.Ala403Thr)
|
rs746135199
|
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.1226G>A (p.Cys409Tyr)
|
rs1060499988
|
0.00001
|
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=)
|
rs878855188
|
0.00001
|
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr)
|
rs757179911
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
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.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)
|
rs775922507
|
0.00001
|
NM_001370259.2(MEN1):c.135G>A (p.Glu45=)
|
rs778670301
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln)
|
rs200035619
|
0.00001
|
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)
|
rs748102589
|
0.00001
|
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)
|
rs754445482
|
0.00001
|
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=)
|
rs748820252
|
0.00001
|
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)
|
rs1352053477
|
0.00001
|
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)
|
rs779589005
|
0.00001
|
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)
|
rs755734265
|
0.00001
|
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser)
|
rs1565638021
|
0.00001
|
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=)
|
rs1413990417
|
0.00001
|
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser)
|
rs587778440
|
0.00001
|
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)
|
rs766604600
|
0.00001
|
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)
|
rs1060499993
|
0.00001
|
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=)
|
rs773363654
|
0.00001
|
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala)
|
rs771842369
|
0.00001
|
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=)
|
rs1057121245
|
0.00001
|
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)
|
rs1060499994
|
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.1564G>C (p.Val522Leu)
|
rs1060499983
|
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.1589A>C (p.Glu530Ala)
|
rs1565636654
|
0.00001
|
NM_001370259.2(MEN1):c.159C>G (p.Val53=)
|
rs1411927545
|
0.00001
|
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg)
|
rs762867287
|
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.1703C>T (p.Thr568Ile)
|
rs751839903
|
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.1777T>C (p.Ser593Pro)
|
rs1411766225
|
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.178G>C (p.Glu60Gln)
|
rs1174208039
|
0.00001
|
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)
|
rs1366457977
|
0.00001
|
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)
|
rs137880635
|
0.00001
|
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu)
|
rs757766498
|
0.00001
|
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)
|
rs150308912
|
0.00001
|
NM_001370259.2(MEN1):c.219C>T (p.Gly73=)
|
rs758434243
|
0.00001
|
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu)
|
rs1238113583
|
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.275G>A (p.Arg92His)
|
rs375628323
|
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.322C>G (p.Arg108Gly)
|
rs794728647
|
0.00001
|
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln)
|
rs1565651551
|
0.00001
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
NM_001370259.2(MEN1):c.336C>G (p.Val112=)
|
rs1200092213
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.345T>C (p.Arg115=)
|
rs748948131
|
0.00001
|
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys)
|
rs1060499992
|
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.446-3C>A
|
rs377461506
|
0.00001
|
NM_001370259.2(MEN1):c.465C>T (p.Ser155=)
|
rs936786553
|
0.00001
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val)
|
rs794728617
|
0.00001
|
NM_001370259.2(MEN1):c.476T>C (p.Phe159Ser)
|
rs1555165861
|
0.00001
|
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala)
|
rs748648909
|
0.00001
|
NM_001370259.2(MEN1):c.48C>T (p.Ile16=)
|
rs1060503797
|
0.00001
|
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)
|
rs1565648547
|
0.00001
|
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn)
|
rs1399824473
|
0.00001
|
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly)
|
rs1157581823
|
0.00001
|
NM_001370259.2(MEN1):c.513G>C (p.Arg171=)
|
rs560870111
|
0.00001
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val)
|
rs1064794683
|
0.00001
|
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser)
|
rs1209606579
|
0.00001
|
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)
|
rs1555165742
|
0.00001
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
NM_001370259.2(MEN1):c.573G>A (p.Glu191=)
|
rs1592651018
|
0.00001
|
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)
|
rs749844029
|
0.00001
|
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys)
|
rs1392579402
|
0.00001
|
NM_001370259.2(MEN1):c.621G>A (p.Arg207=)
|
rs779966911
|
0.00001
|
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser)
|
rs1438685841
|
0.00001
|
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)
|
rs781493730
|
0.00001
|
NM_001370259.2(MEN1):c.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.710C>T (p.Ala237Val)
|
rs760289964
|
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.736T>G (p.Ser246Ala)
|
rs1175283759
|
0.00001
|
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val)
|
rs1462138625
|
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.839T>C (p.Leu280Ser)
|
rs368619946
|
0.00001
|
NM_001370259.2(MEN1):c.843G>C (p.Gly281=)
|
rs562620826
|
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.884G>A (p.Arg295Gln)
|
rs1397110438
|
0.00001
|
NM_001370259.2(MEN1):c.913-8C>T
|
rs373893527
|
0.00001
|
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp)
|
rs139936447
|
0.00001
|
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp)
|
rs756604268
|
0.00001
|
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys)
|
rs377403837
|
0.00001
|
NM_001370259.2(MEN1):c.984C>T (p.His328=)
|
rs757323408
|
0.00001
|
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys)
|
rs1565644005
|
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.103G>A (p.Val35Met)
|
rs782469484
|
0.00001
|
NM_001395413.1(POR):c.1057+11C>T
|
rs782029570
|
0.00001
|
NM_001395413.1(POR):c.1057+3G>A
|
rs1247013812
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1173G>A (p.Gln391=)
|
rs1220024534
|
0.00001
|
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala)
|
rs781842238
|
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.1375G>A (p.Ala459Thr)
|
rs72557936
|
0.00001
|
NM_001395413.1(POR):c.1526T>C (p.Val509Ala)
|
rs1789403650
|
0.00001
|
NM_001395413.1(POR):c.1575C>T (p.Thr525=)
|
rs933264724
|
0.00001
|
NM_001395413.1(POR):c.1585A>G (p.Ile529Val)
|
rs886062442
|
0.00001
|
NM_001395413.1(POR):c.163A>G (p.Thr55Ala)
|
rs781793249
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp)
|
rs868927799
|
0.00001
|
NM_001395413.1(POR):c.179+2T>C
|
rs936203749
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001395413.1(POR):c.182C>T (p.Thr61Ile)
|
rs868909994
|
0.00001
|
NM_001395413.1(POR):c.1959G>T (p.Met653Ile)
|
rs377283521
|
0.00001
|
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)
|
rs371420725
|
0.00001
|
NM_001395413.1(POR):c.1968G>A (p.Ala656=)
|
rs782446980
|
0.00001
|
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr)
|
rs782588164
|
0.00001
|
NM_001395413.1(POR):c.2013C>T (p.Tyr671=)
|
rs1554559514
|
0.00001
|
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys)
|
rs1047228872
|
0.00001
|
NM_001395413.1(POR):c.301G>A (p.Asp101Asn)
|
rs958254199
|
0.00001
|
NM_001395413.1(POR):c.438C>T (p.Thr146=)
|
rs782302163
|
0.00001
|
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr)
|
rs1003447223
|
0.00001
|
NM_001395413.1(POR):c.754G>A (p.Asp252Asn)
|
rs41299514
|
0.00001
|
NM_001395413.1(POR):c.764C>T (p.Ala255Val)
|
rs367782552
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.825C>T (p.Pro275=)
|
rs782052242
|
0.00001
|
NM_001395413.1(POR):c.938+3A>G
|
rs782232516
|
0.00001
|
NM_001395413.1(POR):c.967T>C (p.Tyr323His)
|
rs782419727
|
0.00001
|
NM_002382.5(MAX):c.133A>G (p.Ser45Gly)
|
rs780865640
|
0.00001
|
NM_002382.5(MAX):c.140G>A (p.Arg47Gln)
|
rs2063580413
|
0.00001
|
NM_002382.5(MAX):c.14A>G (p.Asp5Gly)
|
rs150113270
|
0.00001
|
NM_002382.5(MAX):c.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.223C>T (p.Arg75Ter)
|
rs387906650
|
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.298C>T (p.Arg100Cys)
|
rs762084527
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.314C>T (p.Ala105Val)
|
rs769051095
|
0.00001
|
NM_002382.5(MAX):c.331C>G (p.Leu111Val)
|
rs748675729
|
0.00001
|
NM_002382.5(MAX):c.332T>G (p.Leu111Arg)
|
rs1477107672
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.346C>G (p.Pro116Ala)
|
rs1186625283
|
0.00001
|
NM_002382.5(MAX):c.349T>G (p.Ser117Ala)
|
rs1483314784
|
0.00001
|
NM_002382.5(MAX):c.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.376G>A (p.Ala126Thr)
|
rs779789251
|
0.00001
|
NM_002382.5(MAX):c.39A>G (p.Glu13=)
|
rs780941187
|
0.00001
|
NM_002382.5(MAX):c.405T>A (p.Asp135Glu)
|
rs1354621995
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.414G>A (p.Ser138=)
|
rs559090673
|
0.00001
|
NM_002382.5(MAX):c.41A>G (p.Glu14Gly)
|
rs876660888
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.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.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_002382.5(MAX):c.475G>A (p.Ala159Thr)
|
rs779958074
|
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.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.144C>T (p.Asp48=)
|
rs1553178737
|
0.00001
|
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)
|
rs760565241
|
0.00001
|
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)
|
rs764843485
|
0.00001
|
NM_003000.3(SDHB):c.171T>C (p.His57=)
|
rs1280868219
|
0.00001
|
NM_003000.3(SDHB):c.172A>G (p.Met58Val)
|
rs1201188410
|
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.19C>T (p.Leu7Phe)
|
rs745664191
|
0.00001
|
NM_003000.3(SDHB):c.201-10T>C
|
rs761461907
|
0.00001
|
NM_003000.3(SDHB):c.205G>A (p.Gly69Ser)
|
rs1131691048
|
0.00001
|
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)
|
rs200890320
|
0.00001
|
NM_003000.3(SDHB):c.214G>A (p.Val72Ile)
|
rs1060503766
|
0.00001
|
NM_003000.3(SDHB):c.217T>C (p.Leu73=)
|
rs763734164
|
0.00001
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.22T>C (p.Ser8Pro)
|
rs777447369
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
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.286G>A (p.Gly96Ser)
|
rs587782243
|
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.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)
|
rs121917755
|
0.00001
|
NM_003000.3(SDHB):c.312C>T (p.Asn104=)
|
rs876660346
|
0.00001
|
NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)
|
rs200868378
|
0.00001
|
NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)
|
rs767062764
|
0.00001
|
NM_003000.3(SDHB):c.33C>T (p.Arg11=)
|
rs146399542
|
0.00001
|
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.34C>A (p.Arg12=)
|
rs761996626
|
0.00001
|
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)
|
rs1553177755
|
0.00001
|
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)
|
rs11541234
|
0.00001
|
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)
|
rs775925040
|
0.00001
|
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)
|
rs1557741472
|
0.00001
|
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)
|
rs202095022
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)
|
rs772158627
|
0.00001
|
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)
|
rs201403014
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
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.457A>G (p.Ile153Val)
|
rs1450956956
|
0.00001
|
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)
|
rs1396860069
|
0.00001
|
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)
|
rs1553177686
|
0.00001
|
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)
|
rs775350144
|
0.00001
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
NM_003000.3(SDHB):c.488C>T (p.Ser163Phe)
|
rs769687734
|
0.00001
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)
|
rs138979875
|
0.00001
|
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)
|
rs2077999528
|
0.00001
|
NM_003000.3(SDHB):c.519C>T (p.Ser173=)
|
rs768454654
|
0.00001
|
NM_003000.3(SDHB):c.51C>A (p.Thr17=)
|
rs550555402
|
0.00001
|
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)
|
rs202203339
|
0.00001
|
NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)
|
rs201082445
|
0.00001
|
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)
|
rs1553177670
|
0.00001
|
NM_003000.3(SDHB):c.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.541G>A (p.Asp181Asn)
|
rs201385062
|
0.00001
|
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)
|
rs201928318
|
0.00001
|
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)
|
rs1045881797
|
0.00001
|
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)
|
rs199789177
|
0.00001
|
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)
|
rs200535030
|
0.00001
|
NM_003000.3(SDHB):c.584G>C (p.Ser195Thr)
|
rs1570945866
|
0.00001
|
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)
|
rs1557749649
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)
|
rs201517260
|
0.00001
|
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)
|
rs774266782
|
0.00001
|
NM_003000.3(SDHB):c.624G>T (p.Gly208=)
|
rs1214592422
|
0.00001
|
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)
|
rs1252727177
|
0.00001
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.642+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+6G>A
|
rs1326333007
|
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.644C>T (p.Ala215Val)
|
rs1060503761
|
0.00001
|
NM_003000.3(SDHB):c.645C>G (p.Ala215=)
|
rs1473312934
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.663C>T (p.Asp221=)
|
rs1475864409
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
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.710C>G (p.Pro237Arg)
|
rs878854579
|
0.00001
|
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)
|
rs1131691046
|
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.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003000.3(SDHB):c.73-6T>A
|
rs1252798981
|
0.00001
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
|
rs1057517537
|
0.00001
|
NM_003000.3(SDHB):c.765+4C>T
|
rs776039903
|
0.00001
|
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)
|
rs761295633
|
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.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)
|
rs1187293049
|
0.00001
|
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)
|
rs776093267
|
0.00001
|
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)
|
rs2077946173
|
0.00001
|
NM_003000.3(SDHB):c.798C>G (p.Ile266Met)
|
rs760042733
|
0.00001
|
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)
|
rs765429934
|
0.00001
|
NM_003000.3(SDHB):c.809T>C (p.Met270Thr)
|
rs1557738263
|
0.00001
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)
|
rs545681543
|
0.00001
|
NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)
|
rs1275426951
|
0.00001
|
NM_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.103A>G (p.Lys35Glu)
|
rs746315913
|
0.00001
|
NM_003001.5(SDHC):c.114G>C (p.Met38Ile)
|
rs868556406
|
0.00001
|
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala)
|
rs1060501388
|
0.00001
|
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro)
|
rs774299337
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser)
|
rs1277411736
|
0.00001
|
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)
|
rs771746264
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
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.205A>G (p.Ile69Val)
|
rs753561812
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)
|
rs1332910409
|
0.00001
|
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr)
|
rs149375851
|
0.00001
|
NM_003001.5(SDHC):c.23A>G (p.His8Arg)
|
rs776123707
|
0.00001
|
NM_003001.5(SDHC):c.242-17C>T
|
rs1672283295
|
0.00001
|
NM_003001.5(SDHC):c.242G>T (p.Gly81Val)
|
rs781756162
|
0.00001
|
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys)
|
rs1227520085
|
0.00001
|
NM_003001.5(SDHC):c.259A>C (p.Met87Leu)
|
rs756382502
|
0.00001
|
NM_003001.5(SDHC):c.25G>A (p.Val9Ile)
|
rs774768866
|
0.00001
|
NM_003001.5(SDHC):c.261G>T (p.Met87Ile)
|
rs1558182772
|
0.00001
|
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)
|
rs778212096
|
0.00001
|
NM_003001.5(SDHC):c.268C>G (p.Leu90Val)
|
rs771138203
|
0.00001
|
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys)
|
rs1347081665
|
0.00001
|
NM_003001.5(SDHC):c.295T>C (p.Tyr99His)
|
rs760678574
|
0.00001
|
NM_003001.5(SDHC):c.309G>A (p.Val103=)
|
rs768273090
|
0.00001
|
NM_003001.5(SDHC):c.312G>A (p.Lys104=)
|
rs1395923291
|
0.00001
|
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala)
|
rs1571890248
|
0.00001
|
NM_003001.5(SDHC):c.334C>G (p.Leu112Val)
|
rs1329297940
|
0.00001
|
NM_003001.5(SDHC):c.339C>T (p.Ile113=)
|
rs1047677628
|
0.00001
|
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe)
|
rs1161002093
|
0.00001
|
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe)
|
rs1571890420
|
0.00001
|
NM_003001.5(SDHC):c.372C>T (p.Leu124=)
|
rs766007157
|
0.00001
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln)
|
rs386833414
|
0.00001
|
NM_003001.5(SDHC):c.405+12C>T
|
rs575479448
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe)
|
rs760986608
|
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.431A>C (p.Lys144Thr)
|
rs876659889
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile)
|
rs773923942
|
0.00001
|
NM_003001.5(SDHC):c.47C>T (p.Ala16Val)
|
rs1558164567
|
0.00001
|
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)
|
rs200761743
|
0.00001
|
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly)
|
rs781337432
|
0.00001
|
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)
|
rs1473438869
|
0.00001
|
NM_003001.5(SDHC):c.77+3A>G
|
rs750363498
|
0.00001
|
NM_003001.5(SDHC):c.78-18G>A
|
rs780106501
|
0.00001
|
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr)
|
rs748243732
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala)
|
rs878854588
|
0.00001
|
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)
|
rs142139022
|
0.00001
|
NM_003001.5(SDHC):c.9G>A (p.Ala3=)
|
rs749265569
|
0.00001
|
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)
|
rs199901239
|
0.00001
|
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys)
|
rs756995021
|
0.00001
|
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg)
|
rs778202647
|
0.00001
|
NM_003002.4(SDHD):c.141G>A (p.Gln47=)
|
rs1217254088
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.159G>A (p.Pro53=)
|
rs201368675
|
0.00001
|
NM_003002.4(SDHD):c.167A>C (p.His56Pro)
|
rs1555186817
|
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.180G>T (p.Lys60Asn)
|
rs750688879
|
0.00001
|
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)
|
rs104894307
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_003002.4(SDHD):c.211G>A (p.Val71Ile)
|
rs1428042303
|
0.00001
|
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly)
|
rs748545223
|
0.00001
|
NM_003002.4(SDHD):c.21G>A (p.Leu7=)
|
rs974401612
|
0.00001
|
NM_003002.4(SDHD):c.230T>C (p.Leu77Pro)
|
rs777963699
|
0.00001
|
NM_003002.4(SDHD):c.231G>C (p.Leu77=)
|
rs1187106228
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.243G>C (p.Pro81=)
|
rs575262156
|
0.00001
|
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
|
rs772671893
|
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.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys)
|
rs199754684
|
0.00001
|
NM_003002.4(SDHD):c.293C>T (p.Ala98Val)
|
rs200980609
|
0.00001
|
NM_003002.4(SDHD):c.297C>T (p.Leu99=)
|
rs749657880
|
0.00001
|
NM_003002.4(SDHD):c.301C>T (p.Leu101Phe)
|
rs1165258369
|
0.00001
|
NM_003002.4(SDHD):c.310C>G (p.His104Asp)
|
rs779863605
|
0.00001
|
NM_003002.4(SDHD):c.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.328G>A (p.Val110Ile)
|
rs1060503771
|
0.00001
|
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)
|
rs201869798
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003002.4(SDHD):c.33C>T (p.Cys11=)
|
rs104894309
|
0.00001
|
NM_003002.4(SDHD):c.342T>C (p.Tyr114=)
|
rs1050032491
|
0.00001
|
NM_003002.4(SDHD):c.344T>C (p.Val115Ala)
|
rs1489012268
|
0.00001
|
NM_003002.4(SDHD):c.353A>G (p.Asp118Gly)
|
rs750857413
|
0.00001
|
NM_003002.4(SDHD):c.356C>T (p.Ala119Val)
|
rs758784300
|
0.00001
|
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp)
|
rs764384503
|
0.00001
|
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn)
|
rs878854595
|
0.00001
|
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro)
|
rs1312671864
|
0.00001
|
NM_003002.4(SDHD):c.400T>G (p.Leu134Val)
|
rs200851392
|
0.00001
|
NM_003002.4(SDHD):c.405C>A (p.Thr135=)
|
rs1555187606
|
0.00001
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
NM_003002.4(SDHD):c.422A>G (p.Tyr141Cys)
|
rs199772639
|
0.00001
|
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser)
|
rs770909248
|
0.00001
|
NM_003002.4(SDHD):c.430T>C (p.Tyr144His)
|
rs774243340
|
0.00001
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
0.00001
|
NM_003002.4(SDHD):c.433C>A (p.His145Asn)
|
rs121908984
|
0.00001
|
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)
|
rs1314133983
|
0.00001
|
NM_003002.4(SDHD):c.52+19C>T
|
rs1566690388
|
0.00001
|
NM_003002.4(SDHD):c.53-10C>G
|
rs201350484
|
0.00001
|
NM_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
NM_003002.4(SDHD):c.5C>T (p.Ala2Val)
|
rs1440670464
|
0.00001
|
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)
|
rs541477171
|
0.00001
|
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)
|
rs776930864
|
0.00001
|
NM_003002.4(SDHD):c.88C>T (p.His30Tyr)
|
rs561759202
|
0.00001
|
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
|
rs1592778803
|
0.00001
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
NM_004168.4(SDHA):c.1017T>C (p.Ser339=)
|
rs752738784
|
0.00001
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
NM_004168.4(SDHA):c.1026G>T (p.Val342=)
|
rs1060505004
|
0.00001
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
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.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
NM_004168.4(SDHA):c.1110C>T (p.His370=)
|
rs1579406318
|
0.00001
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
NM_004168.4(SDHA):c.1140G>C (p.Leu380=)
|
rs146348714
|
0.00001
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1155G>A (p.Glu385=)
|
rs765356526
|
0.00001
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)
|
rs377317558
|
0.00001
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
NM_004168.4(SDHA):c.1194G>A (p.Glu398=)
|
rs1735703214
|
0.00001
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
NM_004168.4(SDHA):c.1197G>A (p.Pro399=)
|
rs771919335
|
0.00001
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
NM_004168.4(SDHA):c.1260+15T>C
|
rs778457213
|
0.00001
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
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.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
NM_004168.4(SDHA):c.1281C>T (p.Gly427=)
|
rs561918468
|
0.00001
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)
|
rs762494024
|
0.00001
|
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)
|
rs751561561
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)
|
rs75091805
|
0.00001
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
NM_004168.4(SDHA):c.1398A>G (p.Ala466=)
|
rs878854626
|
0.00001
|
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)
|
rs556476038
|
0.00001
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
NM_004168.4(SDHA):c.1432+18G>C
|
rs763298397
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
NM_004168.4(SDHA):c.1461C>T (p.Asn487=)
|
rs187540602
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
NM_004168.4(SDHA):c.1476T>C (p.Ser492=)
|
rs1376968004
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
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.150+1G>A
|
rs1057523165
|
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.1546C>G (p.Gln516Glu)
|
rs1251348764
|
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.1551G>A (p.Lys517=)
|
rs772822136
|
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.1552-3C>T
|
rs1222778933
|
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.1579C>T (p.Arg527Cys)
|
rs138723511
|
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.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
NM_004168.4(SDHA):c.162G>A (p.Gln54=)
|
rs1468436658
|
0.00001
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
NM_004168.4(SDHA):c.1644C>T (p.His548=)
|
rs1126427
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1663+19C>T
|
rs1214851392
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
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.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
NM_004168.4(SDHA):c.1695C>G (p.Thr565=)
|
rs765113103
|
0.00001
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
NM_004168.4(SDHA):c.1707G>A (p.Gln569=)
|
rs959934068
|
0.00001
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
NM_004168.4(SDHA):c.1734C>G (p.Thr578=)
|
rs748328205
|
0.00001
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
NM_004168.4(SDHA):c.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.1795-3C>G
|
rs544544409
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=)
|
rs1226342299
|
0.00001
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
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.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
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.1908+5G>C
|
rs759574062
|
0.00001
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
NM_004168.4(SDHA):c.1909-18C>T
|
rs781153748
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=)
|
rs1444319863
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
NM_004168.4(SDHA):c.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.1978G>A (p.Ala660Thr)
|
rs1554002911
|
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.224G>A (p.Arg75Gln)
|
rs751645963
|
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.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
NM_004168.4(SDHA):c.252G>T (p.Gly84=)
|
rs753293451
|
0.00001
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
NM_004168.4(SDHA):c.312+16C>T
|
rs771169259
|
0.00001
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
NM_004168.4(SDHA):c.313-8G>A
|
rs1060503710
|
0.00001
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.360G>A (p.Arg120=)
|
rs1247649190
|
0.00001
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
NM_004168.4(SDHA):c.378C>T (p.Thr126=)
|
rs756039268
|
0.00001
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
NM_004168.4(SDHA):c.390C>T (p.Ser130=)
|
rs748976493
|
0.00001
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
NM_004168.4(SDHA):c.423C>T (p.Tyr141=)
|
rs768897373
|
0.00001
|
NM_004168.4(SDHA):c.429G>A (p.Thr143=)
|
rs906281170
|
0.00001
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
NM_004168.4(SDHA):c.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.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
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.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
NM_004168.4(SDHA):c.516A>G (p.Ala172=)
|
rs181278759
|
0.00001
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
NM_004168.4(SDHA):c.534C>T (p.Leu178=)
|
rs749329370
|
0.00001
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
NM_004168.4(SDHA):c.546G>A (p.Lys182=)
|
rs757707693
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.564G>A (p.Arg188=)
|
rs1579385933
|
0.00001
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
NM_004168.4(SDHA):c.57C>G (p.Ala19=)
|
rs749948037
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
NM_004168.4(SDHA):c.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.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
NM_004168.4(SDHA):c.63+16G>C
|
rs1252759825
|
0.00001
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
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.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
NM_004168.4(SDHA):c.687G>A (p.Gly229=)
|
rs775359678
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
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.707C>T (p.Ala236Val)
|
rs1060503703
|
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.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
NM_004168.4(SDHA):c.729C>T (p.Ser243=)
|
rs778543446
|
0.00001
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
NM_004168.4(SDHA):c.770+7A>T
|
rs770997653
|
0.00001
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.831G>A (p.Thr277=)
|
rs1470632146
|
0.00001
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
NM_004168.4(SDHA):c.852C>A (p.Gly284=)
|
rs552108762
|
0.00001
|
NM_004168.4(SDHA):c.852C>G (p.Gly284=)
|
rs552108762
|
0.00001
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
NM_004168.4(SDHA):c.858T>A (p.Pro286=)
|
rs1553998661
|
0.00001
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
NM_004168.4(SDHA):c.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.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
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.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
NM_004168.4(SDHA):c.975G>A (p.Arg325=)
|
rs1418778005
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
NM_004168.4(SDHA):c.990C>T (p.Tyr330=)
|
rs370547766
|
0.00001
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
NM_004168.4(SDHA):c.9G>T (p.Gly3=)
|
rs1252447154
|
0.00001
|
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)
|
rs750437487
|
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_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
|
rs1382726525
|
0.00001
|
NM_017841.4(SDHAF2):c.106A>G (p.Arg36Gly)
|
rs1413272315
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.121A>G (p.Thr41Ala)
|
rs1455092335
|
0.00001
|
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)
|
rs749431351
|
0.00001
|
NM_017841.4(SDHAF2):c.146A>G (p.Glu49Gly)
|
rs1295134579
|
0.00001
|
NM_017841.4(SDHAF2):c.157C>T (p.Pro53Ser)
|
rs1060503390
|
0.00001
|
NM_017841.4(SDHAF2):c.169G>A (p.Glu57Lys)
|
rs759556749
|
0.00001
|
NM_017841.4(SDHAF2):c.175A>G (p.Thr59Ala)
|
rs1193598313
|
0.00001
|
NM_017841.4(SDHAF2):c.187A>G (p.Ile63Val)
|
rs1184440065
|
0.00001
|
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile)
|
rs752462796
|
0.00001
|
NM_017841.4(SDHAF2):c.207C>T (p.Arg69=)
|
rs756825771
|
0.00001
|
NM_017841.4(SDHAF2):c.215A>G (p.Tyr72Cys)
|
rs1440188833
|
0.00001
|
NM_017841.4(SDHAF2):c.230G>C (p.Arg77Thr)
|
rs755511528
|
0.00001
|
NM_017841.4(SDHAF2):c.240G>A (p.Leu80=)
|
rs1223446048
|
0.00001
|
NM_017841.4(SDHAF2):c.253C>A (p.Leu85Ile)
|
rs1300112394
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.265T>C (p.Phe89Leu)
|
rs746968831
|
0.00001
|
NM_017841.4(SDHAF2):c.26C>T (p.Thr9Ile)
|
rs552102107
|
0.00001
|
NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr)
|
rs755605816
|
0.00001
|
NM_017841.4(SDHAF2):c.28T>A (p.Ser10Thr)
|
rs1861838801
|
0.00001
|
NM_017841.4(SDHAF2):c.29del (p.Ser10fs)
|
rs1339037960
|
0.00001
|
NM_017841.4(SDHAF2):c.2T>C (p.Met1Thr)
|
rs1060503392
|
0.00001
|
NM_017841.4(SDHAF2):c.300G>A (p.Lys100=)
|
rs1274218425
|
0.00001
|
NM_017841.4(SDHAF2):c.314A>G (p.Tyr105Cys)
|
rs1402726087
|
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.337A>G (p.Ser113Gly)
|
rs780194184
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)
|
rs876658350
|
0.00001
|
NM_017841.4(SDHAF2):c.350A>G (p.Asp117Gly)
|
rs151040226
|
0.00001
|
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)
|
rs747994812
|
0.00001
|
NM_017841.4(SDHAF2):c.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.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.37-2A>G
|
rs1344681005
|
0.00001
|
NM_017841.4(SDHAF2):c.370+3A>G
|
rs773940746
|
0.00001
|
NM_017841.4(SDHAF2):c.370G>A (p.Glu124Lys)
|
rs1237175697
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017841.4(SDHAF2):c.37A>G (p.Met13Val)
|
rs1361460244
|
0.00001
|
NM_017841.4(SDHAF2):c.387A>G (p.Pro129=)
|
rs770383127
|
0.00001
|
NM_017841.4(SDHAF2):c.40C>T (p.Leu14Phe)
|
rs1273048863
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.414C>T (p.Ala138=)
|
rs766658781
|
0.00001
|
NM_017841.4(SDHAF2):c.415C>A (p.Leu139Met)
|
rs1565130851
|
0.00001
|
NM_017841.4(SDHAF2):c.450G>A (p.Glu150=)
|
rs764146390
|
0.00001
|
NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu)
|
rs370174263
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.460C>T (p.Arg154Cys)
|
rs778585796
|
0.00001
|
NM_017841.4(SDHAF2):c.461G>A (p.Arg154His)
|
rs768954974
|
0.00001
|
NM_017841.4(SDHAF2):c.469G>T (p.Asp157Tyr)
|
rs1862133511
|
0.00001
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
NM_017841.4(SDHAF2):c.80G>A (p.Ser27Asn)
|
rs759472787
|
0.00001
|
NM_017841.4(SDHAF2):c.8T>C (p.Val3Ala)
|
rs760006057
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.102C>T (p.Ala34=)
|
rs781643869
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
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.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.143T>C (p.Leu48Pro)
|
rs1219876266
|
0.00001
|
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)
|
rs1573977765
|
0.00001
|
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser)
|
rs767257269
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.192G>C (p.Gln64His)
|
rs1684389208
|
0.00001
|
NM_017849.4(TMEM127):c.197T>C (p.Leu66Pro)
|
rs1249787183
|
0.00001
|
NM_017849.4(TMEM127):c.204C>T (p.Val68=)
|
rs775642794
|
0.00001
|
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)
|
rs1424733983
|
0.00001
|
NM_017849.4(TMEM127):c.20C>T (p.Ala7Val)
|
rs1357430519
|
0.00001
|
NM_017849.4(TMEM127):c.211G>A (p.Val71Met)
|
rs142947571
|
0.00001
|
NM_017849.4(TMEM127):c.229C>T (p.Pro77Ser)
|
rs1390685113
|
0.00001
|
NM_017849.4(TMEM127):c.230C>T (p.Pro77Leu)
|
rs368949257
|
0.00001
|
NM_017849.4(TMEM127):c.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.259C>G (p.Pro87Ala)
|
rs761101636
|
0.00001
|
NM_017849.4(TMEM127):c.28C>T (p.Pro10Ser)
|
rs1161858061
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.313C>T (p.Leu105=)
|
rs754465684
|
0.00001
|
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro)
|
rs766918841
|
0.00001
|
NM_017849.4(TMEM127):c.315G>T (p.Leu105=)
|
rs1440094325
|
0.00001
|
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro)
|
rs761032675
|
0.00001
|
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)
|
rs767739392
|
0.00001
|
NM_017849.4(TMEM127):c.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.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.354G>A (p.Pro118=)
|
rs1392614291
|
0.00001
|
NM_017849.4(TMEM127):c.377C>T (p.Thr126Ile)
|
rs775944671
|
0.00001
|
NM_017849.4(TMEM127):c.380G>A (p.Arg127His)
|
rs777665433
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.384C>T (p.Arg128=)
|
rs755188175
|
0.00001
|
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)
|
rs750870974
|
0.00001
|
NM_017849.4(TMEM127):c.3G>A (p.Met1Ile)
|
rs121908814
|
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.419G>T (p.Cys140Phe)
|
rs121908828
|
0.00001
|
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro)
|
rs936034324
|
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.451T>C (p.Ser151Pro)
|
rs964860224
|
0.00001
|
NM_017849.4(TMEM127):c.462C>G (p.Ile154Met)
|
rs987656498
|
0.00001
|
NM_017849.4(TMEM127):c.468C>A (p.Ala156=)
|
rs749579854
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_017849.4(TMEM127):c.46A>G (p.Arg16Gly)
|
rs767737615
|
0.00001
|
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg)
|
rs745947594
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.520G>A (p.Ala174Thr)
|
rs753594901
|
0.00001
|
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile)
|
rs149034651
|
0.00001
|
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)
|
rs550833832
|
0.00001
|
NM_017849.4(TMEM127):c.545G>A (p.Gly182Glu)
|
rs761885719
|
0.00001
|
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro)
|
rs764012422
|
0.00001
|
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)
|
rs762657413
|
0.00001
|
NM_017849.4(TMEM127):c.56G>T (p.Gly19Val)
|
rs1331019402
|
0.00001
|
NM_017849.4(TMEM127):c.585C>T (p.Leu195=)
|
rs758874572
|
0.00001
|
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)
|
rs140860906
|
0.00001
|
NM_017849.4(TMEM127):c.58G>A (p.Gly20Ser)
|
rs1343615968
|
0.00001
|
NM_017849.4(TMEM127):c.590G>A (p.Arg197His)
|
rs1231066976
|
0.00001
|
NM_017849.4(TMEM127):c.5A>G (p.Tyr2Cys)
|
rs1368865164
|
0.00001
|
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr)
|
rs756818796
|
0.00001
|
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)
|
rs1348645128
|
0.00001
|
NM_017849.4(TMEM127):c.633C>T (p.Leu211=)
|
rs368792184
|
0.00001
|
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)
|
rs1239484250
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.651C>T (p.Asn217=)
|
rs759801591
|
0.00001
|
NM_017849.4(TMEM127):c.657C>T (p.Pro219=)
|
rs1213216357
|
0.00001
|
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His)
|
rs1684141729
|
0.00001
|
NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu)
|
rs144326855
|
0.00001
|
NM_017849.4(TMEM127):c.663G>A (p.Pro221=)
|
rs377760956
|
0.00001
|
NM_017849.4(TMEM127):c.666G>A (p.Ala222=)
|
rs772481029
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_017849.4(TMEM127):c.693G>C (p.Gln231His)
|
rs755351925
|
0.00001
|
NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr)
|
rs1184921725
|
0.00001
|
NM_017849.4(TMEM127):c.71C>G (p.Pro24Arg)
|
rs1231130879
|
0.00001
|
NM_017849.4(TMEM127):c.8C>T (p.Ala3Val)
|
rs1553437754
|
0.00001
|
NM_017849.4(TMEM127):c.95C>T (p.Ala32Val)
|
rs1459156138
|
0.00001
|
NM_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.1074C>T (p.Ala358=)
|
rs531691647
|
0.00001
|
NM_021098.3(CACNA1H):c.1086C>T (p.Asp362=)
|
rs1401076912
|
0.00001
|
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys)
|
rs757422637
|
0.00001
|
NM_021098.3(CACNA1H):c.1120-4C>A
|
rs765058001
|
0.00001
|
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=)
|
rs751019130
|
0.00001
|
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg)
|
rs770983743
|
0.00001
|
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu)
|
rs1383967941
|
0.00001
|
NM_021098.3(CACNA1H):c.1189A>G (p.Ile397Val)
|
rs574543676
|
0.00001
|
NM_021098.3(CACNA1H):c.1198A>G (p.Ile400Val)
|
rs1196061479
|
0.00001
|
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val)
|
rs751513581
|
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.1213-9C>G
|
rs769924135
|
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.1245G>A (p.Leu415=)
|
rs1399878445
|
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.1405C>T (p.Arg469Cys)
|
rs746748953
|
0.00001
|
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala)
|
rs1555498163
|
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.1457G>T (p.Trp486Leu)
|
rs1967973162
|
0.00001
|
NM_021098.3(CACNA1H):c.1459C>T (p.Arg487Cys)
|
rs907429190
|
0.00001
|
NM_021098.3(CACNA1H):c.150C>T (p.Pro50=)
|
rs1355571002
|
0.00001
|
NM_021098.3(CACNA1H):c.1538C>T (p.Ser513Leu)
|
rs1333592686
|
0.00001
|
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His)
|
rs1230959391
|
0.00001
|
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)
|
rs1481524583
|
0.00001
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=)
|
rs1355615330
|
0.00001
|
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr)
|
rs1056058034
|
0.00001
|
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)
|
rs1474486162
|
0.00001
|
NM_021098.3(CACNA1H):c.1690C>T (p.Arg564Cys)
|
rs1316230541
|
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.1705G>A (p.Ala569Thr)
|
rs752986607
|
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.1741C>T (p.His581Tyr)
|
rs752153295
|
0.00001
|
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln)
|
rs777448598
|
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.1765G>A (p.Ala589Thr)
|
rs769240762
|
0.00001
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr)
|
rs61747577
|
0.00001
|
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu)
|
rs1428939766
|
0.00001
|
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser)
|
rs750987846
|
0.00001
|
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)
|
rs771036445
|
0.00001
|
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg)
|
rs566589497
|
0.00001
|
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro)
|
rs767196759
|
0.00001
|
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
|
rs1596270983
|
0.00001
|
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile)
|
rs1030011973
|
0.00001
|
NM_021098.3(CACNA1H):c.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.1982C>T (p.Pro661Leu)
|
rs780376174
|
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.2005C>G (p.Leu669Val)
|
rs747987613
|
0.00001
|
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg)
|
rs1466381514
|
0.00001
|
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=)
|
rs3751663
|
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.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile)
|
rs1567519932
|
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.2242G>A (p.Ala748Thr)
|
rs746275171
|
0.00001
|
NM_021098.3(CACNA1H):c.2279A>C (p.Gln760Pro)
|
rs764592377
|
0.00001
|
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
|
rs757946905
|
0.00001
|
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp)
|
rs777503810
|
0.00001
|
NM_021098.3(CACNA1H):c.2303C>T (p.Ala768Val)
|
rs957641440
|
0.00001
|
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu)
|
rs540638287
|
0.00001
|
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met)
|
rs1473122688
|
0.00001
|
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=)
|
rs761519926
|
0.00001
|
NM_021098.3(CACNA1H):c.2382C>T (p.Tyr794=)
|
rs957047269
|
0.00001
|
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys)
|
rs183042575
|
0.00001
|
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=)
|
rs777762276
|
0.00001
|
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val)
|
rs781441262
|
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.2471C>T (p.Ala824Val)
|
rs772602372
|
0.00001
|
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=)
|
rs572841580
|
0.00001
|
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp)
|
rs760796226
|
0.00001
|
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala)
|
rs1051410307
|
0.00001
|
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn)
|
rs1386150404
|
0.00001
|
NM_021098.3(CACNA1H):c.2512C>T (p.Leu838=)
|
rs951038626
|
0.00001
|
NM_021098.3(CACNA1H):c.2524C>T (p.Leu842=)
|
rs561709486
|
0.00001
|
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val)
|
rs779724136
|
0.00001
|
NM_021098.3(CACNA1H):c.2556C>T (p.Tyr852=)
|
rs1227539325
|
0.00001
|
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val)
|
rs906645609
|
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+3G>A
|
rs773966897
|
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.2627C>T (p.Ala876Val)
|
rs770827490
|
0.00001
|
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His)
|
rs763861676
|
0.00001
|
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys)
|
rs1446439397
|
0.00001
|
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys)
|
rs1047092055
|
0.00001
|
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser)
|
rs1336532564
|
0.00001
|
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)
|
rs779011503
|
0.00001
|
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His)
|
rs1057520721
|
0.00001
|
NM_021098.3(CACNA1H):c.2724G>A (p.Leu908=)
|
rs958354749
|
0.00001
|
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser)
|
rs769647241
|
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.2817C>T (p.Cys939=)
|
rs1336280254
|
0.00001
|
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr)
|
rs1012165881
|
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.2899G>A (p.Val967Met)
|
rs1489760070
|
0.00001
|
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys)
|
rs1266233731
|
0.00001
|
NM_021098.3(CACNA1H):c.2908-4C>T
|
rs937005376
|
0.00001
|
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser)
|
rs1968852331
|
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.3015G>A (p.Val1005=)
|
rs369161410
|
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.3043G>A (p.Val1015Met)
|
rs376957651
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-15C>T
|
rs371897810
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-19T>A
|
rs1322960336
|
0.00001
|
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=)
|
rs757098120
|
0.00001
|
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)
|
rs575176246
|
0.00001
|
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys)
|
rs970648879
|
0.00001
|
NM_021098.3(CACNA1H):c.3102G>A (p.Thr1034=)
|
rs766896791
|
0.00001
|
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=)
|
rs1044744061
|
0.00001
|
NM_021098.3(CACNA1H):c.312C>T (p.His104=)
|
rs370735613
|
0.00001
|
NM_021098.3(CACNA1H):c.3154+5G>A
|
rs764360814
|
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.3170C>T (p.Ser1057Phe)
|
rs1435560643
|
0.00001
|
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter)
|
rs780350191
|
0.00001
|
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val)
|
rs1238128692
|
0.00001
|
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr)
|
rs373102061
|
0.00001
|
NM_021098.3(CACNA1H):c.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.3314G>A (p.Arg1105His)
|
rs764071122
|
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.3355A>G (p.Lys1119Glu)
|
rs1489047777
|
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.3374G>A (p.Arg1125Gln)
|
rs771952308
|
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.3508G>A (p.Glu1170Lys)
|
rs766406727
|
0.00001
|
NM_021098.3(CACNA1H):c.3531C>T (p.Asp1177=)
|
rs954264851
|
0.00001
|
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)
|
rs772258959
|
0.00001
|
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
|
rs778186545
|
0.00001
|
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)
|
rs894257173
|
0.00001
|
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys)
|
rs761063520
|
0.00001
|
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr)
|
rs529108681
|
0.00001
|
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)
|
rs1399681066
|
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.362G>A (p.Arg121Gln)
|
rs201931839
|
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.3652G>A (p.Asp1218Asn)
|
rs771215852
|
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.3697G>A (p.Asp1233Asn)
|
rs768716174
|
0.00001
|
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val)
|
rs774604155
|
0.00001
|
NM_021098.3(CACNA1H):c.3699C>T (p.Asp1233=)
|
rs369155203
|
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.3744+1G>A
|
rs770718464
|
0.00001
|
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp)
|
rs751642419
|
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.3885G>A (p.Met1295Ile)
|
rs1410255453
|
0.00001
|
NM_021098.3(CACNA1H):c.3894C>T (p.His1298=)
|
rs779815222
|
0.00001
|
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe)
|
rs1969297546
|
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.3962G>C (p.Gly1321Ala)
|
rs1043239667
|
0.00001
|
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
|
rs1172795132
|
0.00001
|
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala)
|
rs1373335448
|
0.00001
|
NM_021098.3(CACNA1H):c.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.4038+4C>T
|
rs1207045890
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+6G>A
|
rs112068805
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+8G>A
|
rs555282047
|
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.4061C>T (p.Ser1354Phe)
|
rs754994425
|
0.00001
|
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)
|
rs747715176
|
0.00001
|
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
|
rs772929276
|
0.00001
|
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr)
|
rs764727820
|
0.00001
|
NM_021098.3(CACNA1H):c.4086C>T (p.Ser1362=)
|
rs767588625
|
0.00001
|
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)
|
rs867556563
|
0.00001
|
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu)
|
rs372465607
|
0.00001
|
NM_021098.3(CACNA1H):c.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.4154C>T (p.Ser1385Leu)
|
rs773333921
|
0.00001
|
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=)
|
rs535299188
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys)
|
rs374596109
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+15G>A
|
rs751557016
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+5G>A
|
rs776869097
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+8G>T
|
rs759696447
|
0.00001
|
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe)
|
rs776156272
|
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.4303C>T (p.Leu1435Phe)
|
rs762016050
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+15C>T
|
rs745322715
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+3G>A
|
rs1969415717
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+6T>C
|
rs367545564
|
0.00001
|
NM_021098.3(CACNA1H):c.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.4376G>T (p.Cys1459Phe)
|
rs1403664698
|
0.00001
|
NM_021098.3(CACNA1H):c.4427C>T (p.Ala1476Val)
|
rs781394652
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>G (p.Asn1489Asp)
|
rs750626623
|
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.4487C>T (p.Ser1496Leu)
|
rs536269517
|
0.00001
|
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met)
|
rs758872935
|
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.4566+4C>T
|
rs199968897
|
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.4624G>A (p.Val1542Ile)
|
rs745495784
|
0.00001
|
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr)
|
rs1195869438
|
0.00001
|
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln)
|
rs538666649
|
0.00001
|
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg)
|
rs748978718
|
0.00001
|
NM_021098.3(CACNA1H):c.4704G>A (p.Glu1568=)
|
rs967037376
|
0.00001
|
NM_021098.3(CACNA1H):c.4710G>A (p.Ala1570=)
|
rs759616283
|
0.00001
|
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp)
|
rs58725680
|
0.00001
|
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln)
|
rs1343159534
|
0.00001
|
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys)
|
rs777159526
|
0.00001
|
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His)
|
rs774569737
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-2A>G
|
rs1468821137
|
0.00001
|
NM_021098.3(CACNA1H):c.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.4804G>A (p.Asp1602Asn)
|
rs201296407
|
0.00001
|
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)
|
rs761945003
|
0.00001
|
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys)
|
rs531597200
|
0.00001
|
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr)
|
rs776165690
|
0.00001
|
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile)
|
rs1015123563
|
0.00001
|
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=)
|
rs576335604
|
0.00001
|
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser)
|
rs1381765830
|
0.00001
|
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr)
|
rs577258290
|
0.00001
|
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp)
|
rs1217478571
|
0.00001
|
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu)
|
rs766396848
|
0.00001
|
NM_021098.3(CACNA1H):c.4929+5G>A
|
rs1054400971
|
0.00001
|
NM_021098.3(CACNA1H):c.4930-5C>T
|
rs1475010597
|
0.00001
|
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu)
|
rs745902196
|
0.00001
|
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg)
|
rs749032674
|
0.00001
|
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu)
|
rs751816236
|
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.5059G>A (p.Ala1687Thr)
|
rs374276829
|
0.00001
|
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met)
|
rs754276994
|
0.00001
|
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met)
|
rs556827361
|
0.00001
|
NM_021098.3(CACNA1H):c.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.5143C>T (p.Arg1715Cys)
|
rs545768453
|
0.00001
|
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=)
|
rs1182772693
|
0.00001
|
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His)
|
rs375691821
|
0.00001
|
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met)
|
rs768128693
|
0.00001
|
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys)
|
rs771688999
|
0.00001
|
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His)
|
rs1025818671
|
0.00001
|
NM_021098.3(CACNA1H):c.5182C>T (p.Leu1728=)
|
rs1267755673
|
0.00001
|
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met)
|
rs764098313
|
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.5267T>C (p.Phe1756Ser)
|
rs767973097
|
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.5407C>T (p.Arg1803Cys)
|
rs767277197
|
0.00001
|
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=)
|
rs776172409
|
0.00001
|
NM_021098.3(CACNA1H):c.5445+7G>A
|
rs563361414
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-10C>G
|
rs1184041228
|
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.5458G>A (p.Glu1820Lys)
|
rs768988866
|
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.547A>C (p.Met183Leu)
|
rs763029586
|
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.552G>A (p.Met184Ile)
|
rs376566207
|
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.5603A>G (p.Lys1868Arg)
|
rs1970204449
|
0.00001
|
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val)
|
rs773943668
|
0.00001
|
NM_021098.3(CACNA1H):c.561G>A (p.Ser187=)
|
rs762058094
|
0.00001
|
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val)
|
rs369689966
|
0.00001
|
NM_021098.3(CACNA1H):c.5640C>T (p.Ile1880=)
|
rs757358788
|
0.00001
|
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp)
|
rs899082537
|
0.00001
|
NM_021098.3(CACNA1H):c.5685C>T (p.Asp1895=)
|
rs1463806903
|
0.00001
|
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val)
|
rs139080716
|
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.56C>G (p.Pro19Arg)
|
rs1196939283
|
0.00001
|
NM_021098.3(CACNA1H):c.5700C>A (p.Pro1900=)
|
rs546638839
|
0.00001
|
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe)
|
rs919557968
|
0.00001
|
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
|
rs756181994
|
0.00001
|
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)
|
rs754166849
|
0.00001
|
NM_021098.3(CACNA1H):c.5787C>T (p.Asn1929=)
|
rs747958775
|
0.00001
|
NM_021098.3(CACNA1H):c.5788G>A (p.Asp1930Asn)
|
rs371573041
|
0.00001
|
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)
|
rs59950911
|
0.00001
|
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
|
rs1175867441
|
0.00001
|
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
|
rs769441475
|
0.00001
|
NM_021098.3(CACNA1H):c.5826G>A (p.Ala1942=)
|
rs750936189
|
0.00001
|
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp)
|
rs772374857
|
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.5902G>C (p.Val1968Leu)
|
rs921830082
|
0.00001
|
NM_021098.3(CACNA1H):c.5916C>T (p.Pro1972=)
|
rs979429805
|
0.00001
|
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr)
|
rs1003957584
|
0.00001
|
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=)
|
rs896695448
|
0.00001
|
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)
|
rs1312406661
|
0.00001
|
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu)
|
rs1483742539
|
0.00001
|
NM_021098.3(CACNA1H):c.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.6027C>T (p.Leu2009=)
|
rs766357140
|
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.6064G>A (p.Asp2022Asn)
|
rs372375376
|
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.6158G>T (p.Gly2053Val)
|
rs1387716276
|
0.00001
|
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)
|
rs1199118621
|
0.00001
|
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys)
|
rs758461760
|
0.00001
|
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg)
|
rs541001877
|
0.00001
|
NM_021098.3(CACNA1H):c.622C>T (p.Arg208Cys)
|
rs758015873
|
0.00001
|
NM_021098.3(CACNA1H):c.6238T>A (p.Ser2080Thr)
|
rs761247671
|
0.00001
|
NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu)
|
rs759924732
|
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.6274G>A (p.Glu2092Lys)
|
rs778743259
|
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.6314C>T (p.Thr2105Ile)
|
rs756344458
|
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.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile)
|
rs774915687
|
0.00001
|
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr)
|
rs1225788473
|
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.6383G>A (p.Gly2128Asp)
|
rs772416042
|
0.00001
|
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln)
|
rs776993441
|
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.6422A>G (p.Gln2141Arg)
|
rs772532983
|
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.6459G>C (p.Gln2153His)
|
rs534707181
|
0.00001
|
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu)
|
rs779547523
|
0.00001
|
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=)
|
rs747394862
|
0.00001
|
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=)
|
rs1555520987
|
0.00001
|
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile)
|
rs745906833
|
0.00001
|
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=)
|
rs113962757
|
0.00001
|
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala)
|
rs1348390859
|
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.6601G>A (p.Glu2201Lys)
|
rs1456584884
|
0.00001
|
NM_021098.3(CACNA1H):c.6612G>A (p.Ala2204=)
|
rs757987443
|
0.00001
|
NM_021098.3(CACNA1H):c.6613C>T (p.Arg2205Trp)
|
rs760985703
|
0.00001
|
NM_021098.3(CACNA1H):c.6614G>T (p.Arg2205Leu)
|
rs967347672
|
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.6692C>A (p.Ser2231Tyr)
|
rs746267333
|
0.00001
|
NM_021098.3(CACNA1H):c.6694C>T (p.Leu2232=)
|
rs1366621639
|
0.00001
|
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg)
|
rs899655295
|
0.00001
|
NM_021098.3(CACNA1H):c.6714A>T (p.Ser2238=)
|
rs1970410954
|
0.00001
|
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His)
|
rs554435610
|
0.00001
|
NM_021098.3(CACNA1H):c.6764C>T (p.Ser2255Phe)
|
rs746214213
|
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.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
NM_021098.3(CACNA1H):c.678G>A (p.Thr226=)
|
rs367793790
|
0.00001
|
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu)
|
rs766207096
|
0.00001
|
NM_021098.3(CACNA1H):c.6819C>T (p.Leu2273=)
|
rs746731481
|
0.00001
|
NM_021098.3(CACNA1H):c.681G>T (p.Leu227=)
|
rs760361360
|
0.00001
|
NM_021098.3(CACNA1H):c.6846G>A (p.Leu2282=)
|
rs58394025
|
0.00001
|
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala)
|
rs1970426309
|
0.00001
|
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg)
|
rs771028729
|
0.00001
|
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser)
|
rs778466215
|
0.00001
|
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln)
|
rs1468102052
|
0.00001
|
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)
|
rs753077813
|
0.00001
|
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=)
|
rs993061665
|
0.00001
|
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln)
|
rs1203994251
|
0.00001
|
NM_021098.3(CACNA1H):c.7002G>A (p.Glu2334=)
|
rs1006975748
|
0.00001
|
NM_021098.3(CACNA1H):c.7019C>T (p.Ser2340Leu)
|
rs1466647338
|
0.00001
|
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp)
|
rs1201268826
|
0.00001
|
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
|
rs1418372954
|
0.00001
|
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu)
|
rs990512900
|
0.00001
|
NM_021098.3(CACNA1H):c.714C>T (p.Phe238=)
|
rs748186171
|
0.00001
|
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val)
|
rs776274017
|
0.00001
|
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser)
|
rs774687054
|
0.00001
|
NM_021098.3(CACNA1H):c.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.806A>G (p.Asn269Ser)
|
rs751311855
|
0.00001
|
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
|
rs1240507435
|
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.844G>A (p.Glu282Lys)
|
rs119454948
|
0.00001
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
NM_021098.3(CACNA1H):c.868A>G (p.Ile290Val)
|
rs200009613
|
0.00001
|
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)
|
rs1443348691
|
0.00001
|
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr)
|
rs1967689942
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.909G>A (p.Ser303=)
|
rs771877421
|
0.00001
|
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)
|
rs57740463
|
0.00001
|
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)
|
rs758039020
|
0.00001
|
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)
|
rs997846742
|
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.974C>T (p.Pro325Leu)
|
rs375274586
|
0.00001
|
NM_021098.3(CACNA1H):c.97C>T (p.Pro33Ser)
|
rs1163327322
|
0.00001
|
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp)
|
rs747326278
|
0.00001
|
NM_021098.3(CACNA1H):c.99C>G (p.Pro33=)
|
rs778266598
|
0.00001
|
NC_000001.10:g.(?_130980840)_(248900000_?)dup
|
|
|
NC_000001.10:g.(?_160786670)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)del
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)dup
|
|
|
NC_000001.10:g.(?_161284186)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161284190)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161293394)_(161293470_?)del
|
|
|
NC_000001.10:g.(?_161293394)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161293398)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161298176)_(161298297_?)del
|
|
|
NC_000001.10:g.(?_161298176)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161310455_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161332233_?)dup
|
|
|
NC_000001.10:g.(?_161310374)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161310378)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161310384)_(161310445_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161326640_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161326461)_(161332229_?)dup
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)dup
|
|
|
NC_000001.10:g.(?_17345217)_(17380665_?)dup
|
|
|
NC_000001.10:g.(?_17345366)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17345370)_(17355237_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17355241_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17371393_?)dup
|
|
|
NC_000001.10:g.(?_17345376)_(17371403_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17350579_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17349097)_(17359646_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17354370_?)del
|
|
|
NC_000001.10:g.(?_17354234)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371246)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17371246)_(17380524_?)dup
|
|
|
NC_000001.10:g.(?_17371256)_(17371383_?)dup
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
NC_000001.11:g.(?_160816880)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161328507_?)dup
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)del
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161314396)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161314400)_(161362439_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161328507_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161323614)_(161323670_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161340665_?)dup
|
|
|
NC_000001.11:g.(?_161340584)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356667)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362443_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362518_?)dup
|
|
|
NC_000001.11:g.(?_161356677)_(161356840_?)del
|
|
|
NC_000001.11:g.(?_17018722)_(17018958_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17018968_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17054029_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17044894_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17018968_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)dup
|
|
|
NC_000001.11:g.(?_17018881)_(17071491_?)del
|
|
|
NC_000001.11:g.(?_17033050)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17033054)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17044751)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17044761)_(17044888_?)del
|
|
|
NC_000001.11:g.(?_17053938)_(17054029_?)del
|
|
|
NC_000002.11:g.(?_218999525)_(220435954_?)dup
|
|
|
NC_000002.11:g.(?_96919536)_(96931129_?)dup
|
|
|
NC_000002.11:g.(?_96919540)_(96931125_?)dup
|
|
|
NC_000002.11:g.(?_96919546)_(96920745_?)del
|
|
|
NC_000002.11:g.(?_96930856)_(96931119_?)dup
|
|
|
NC_000002.11:g.(?_96930866)_(96931137_?)del
|
|
|
NC_000002.12:g.(?_96253798)_(96265391_?)del
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)del
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)dup
|
|
|
NC_000002.12:g.(?_96265128)_(96265399_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112086969_?)dup
|
|
|
NC_000011.10:g.(?_112086823)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
NC_000011.10:g.(?_112087802)_(112094970_?)dup
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
NC_000011.10:g.(?_61437615)_(61446071_?)dup
|
|
|
NC_000011.10:g.(?_64803514)_(64804816_?)del
|
|
|
NC_000011.10:g.(?_64803514)_(64810132_?)del
|
|
|
NC_000011.10:g.(?_64804324)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64804334)_(64810716_?)del
|
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|
NC_000011.10:g.(?_64804334)_(64810716_?)dup
|
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|
NC_000011.10:g.(?_64809655)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64809655)_(64810716_?)dup
|
|
|
NC_000011.10:g.(?_64809659)_(64810115_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111959745_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111956548)_(111967525_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111959745_?)dup
|
|
|
NC_000011.9:g.(?_111957622)_(111965704_?)dup
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)dup
|
|
|
NC_000011.9:g.(?_111959581)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_61197619)_(61205595_?)dup
|
|
|
NC_000011.9:g.(?_61197619)_(61213543_?)dup
|
|
|
NC_000011.9:g.(?_61197619)_(61552680_?)del
|
|
|
NC_000011.9:g.(?_61205087)_(61205595_?)del
|
|
|
NC_000011.9:g.(?_61205087)_(61213543_?)del
|
|
|
NC_000011.9:g.(?_61205087)_(61213553_?)dup
|
|
|
NC_000011.9:g.(?_64571796)_(64572298_?)del
|
|
|
NC_000011.9:g.(?_64573097)_(64575581_?)del
|
|
|
NC_000011.9:g.(?_64575120)_(64576450_?)del
|
|
|
NC_000011.9:g.(?_64577559)_(64578852_?)del
|
|
|
NC_000014.8:g.(?_65543194)_(65544764_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65560543_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65569057_?)dup
|
|
|
NC_000014.8:g.(?_65568254)_(65569057_?)dup
|
|
|
NC_000014.9:g.(?_65076466)_(65102349_?)dup
|
|
|
NC_000014.9:g.(?_65093698)_(65102349_?)del
|
|
|
NC_000014.9:g.(?_65093702)_(65102345_?)del
|
|
|
NC_000014.9:g.(?_65101536)_(65102349_?)del
|
|
|
NC_000014.9:g.(?_65101546)_(65102544_?)del
|
|
|
NC_000016.10:g.(?_1194952)_(1221014_?)dup
|
|
|
NC_000016.10:g.(?_1214952)_(1221014_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1204056_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1260155_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1246043_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1256309_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1244962)_(1260981_?)dup
|
|
|
NC_000016.9:g.(?_1244962)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1248595)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1248605)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1251643)_(1255285_?)del
|
|
|
NC_000016.9:g.(?_1264952)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_256302)_(1843653_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2153916_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_765584)_(1204036_?)del
|
|
|
NC_000021.8:g.(?_45629566)_(46330717_?)dup
|
|
|
NC_000021.8:g.(?_45705870)_(45707494_?)del
|
|
|
NC_000021.8:g.(?_45705870)_(45711113_?)del
|
|
|
NC_000021.8:g.(?_45705880)_(45707026_?)del
|
|
|
NC_000021.8:g.(?_45705880)_(45711103_?)del
|
|
|
NC_000021.8:g.(?_45709520)_(45759077_?)dup
|
|
|
NC_000021.8:g.(?_45709640)_(45714378_?)del
|
|
|
NC_000021.8:g.(?_45713652)_(45717630_?)dup
|
|
|
NC_000021.8:g.(?_45717519)_(45717610_?)dup
|
|
|
NC_000021.9:g.(?_44285987)_(44297747_?)del
|
|
|
NC_000021.9:g.(?_44297636)_(44297747_?)dup
|
|
|
NC_000021.9:g.44288345_44288346del
|
|
|
NC_000023.10:g.(?_152014869)_(153363122_?)dup
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152954020)_(154096327_?)del
|
|
|
NC_000023.10:g.(?_152959340)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_152990712)_(153009199_?)dup
|
|
|
NC_000023.10:g.(?_152990722)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_152991573)_(152995898_?)del
|
|
|
NC_000023.10:g.(?_152994617)_(153006193_?)del
|
|
|
NC_000023.10:g.(?_152996855)_(153006103_?)del
|
|
|
NC_000023.10:g.(?_152999896)_(153005554_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153002725_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(154563736_?)dup
|
|
|
NC_000023.10:g.(?_153001789)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153002601)_(153002715_?)del
|
|
|
NC_000023.10:g.(?_153002694)_153020558del
|
|
|
NC_000023.10:g.(?_153005725)_(153006804_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_153008655)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008701)_(153011800_?)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.11:g.(?_153736092)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743735_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153740082)_(153740247_?)del
|
|
|
NC_000023.11:g.(?_153742977)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153743201)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=)
|
rs2148392000
|
|
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
|
|
|
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
|
|
|
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
|
rs2091726692
|
|
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
|
|
|
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
|
|
|
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
|
|
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
|
rs2091726796
|
|
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
|
rs2091726809
|
|
NM_000033.4(ABCD1):c.1029C>T (p.Gly343=)
|
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
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.1075G>A (p.Glu359Lys)
|
|
|
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
|
|
|
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
|
|
|
NM_000033.4(ABCD1):c.1081+13G>A
|
|
|
NM_000033.4(ABCD1):c.1081+13G>C
|
|
|
NM_000033.4(ABCD1):c.1081+1G>A
|
rs2091727061
|
|
NM_000033.4(ABCD1):c.1081+1G>C
|
|
|
NM_000033.4(ABCD1):c.1081+20G>C
|
|
|
NM_000033.4(ABCD1):c.1081+5G>T
|
|
|
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG
|
rs2148392098
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000033.4(ABCD1):c.1082-12G>A
|
rs2148395344
|
|
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>G
|
rs374337788
|
|
NM_000033.4(ABCD1):c.1082-19C>T
|
|
|
NM_000033.4(ABCD1):c.1082-1G>A
|
rs1557054153
|
|
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.1091C>G (p.Ala364Gly)
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
|
|
|
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.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
|
|
|
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
|
|
|
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)
|
|
|
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
|
rs1603234451
|
|
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=)
|
rs2148395382
|
|
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=)
|
|
|
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
|
|
|
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=)
|
|
|
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
|
|
|
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
|
|
|
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
|
rs782266592
|
|
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)
|
rs782007706
|
|
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
|
|
|
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg)
|
rs2148395416
|
|
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)
|
|
|
NM_000033.4(ABCD1):c.114G>A (p.Gln38=)
|
rs2148388662
|
|
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
|
rs1205548762
|
|
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
|
rs1603234474
|
|
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=)
|
|
|
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
|
rs2091749101
|
|
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=)
|
rs2148395439
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1167C>T (p.Arg389=)
|
|
|
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
|
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1174C>G (p.Leu392Val)
|
|
|
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.1183G>C (p.Ala395Pro)
|
rs1557054176
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
|
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
|
rs2091749296
|
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
|
|
|
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)
|
|
|
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del)
|
rs2148395492
|
|
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=)
|
rs375656638
|
|
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=)
|
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
|
|
|
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000033.4(ABCD1):c.1224+20A>C
|
|
|
NM_000033.4(ABCD1):c.1224+2T>A
|
|
|
NM_000033.4(ABCD1):c.1224+4C>T
|
|
|
NM_000033.4(ABCD1):c.1224+7C>T
|
|
|
NM_000033.4(ABCD1):c.1224+8del
|
rs1440978011
|
|
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)
|
rs2148395507
|
|
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.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.123C>A (p.Ala41=)
|
rs2091703479
|
|
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala)
|
rs2091749822
|
|
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=)
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
|
|
|
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
|
|
|
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
|
|
|
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu)
|
rs2091749942
|
|
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.1270C>T (p.Gln424Ter)
|
rs1557054210
|
|
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=)
|
|
|
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
|
|
|
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp)
|
rs2148395625
|
|
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
|
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
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.1297C>G (p.His433Asp)
|
rs2091750125
|
|
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
|
|
|
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.1324_1327dup (p.Ala443fs)
|
rs2148395658
|
|
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu)
|
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
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.1359del (p.Gly454fs)
|
rs1603234574
|
|
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
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.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1393+13C>A
|
|
|
NM_000033.4(ABCD1):c.1393+14C>T
|
|
|
NM_000033.4(ABCD1):c.1393+1G>A
|
|
|
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>A
|
|
|
NM_000033.4(ABCD1):c.1394-18G>T
|
|
|
NM_000033.4(ABCD1):c.1394-19C>T
|
|
|
NM_000033.4(ABCD1):c.1394-2A>G
|
|
|
NM_000033.4(ABCD1):c.1394-2_1404del
|
|
|
NM_000033.4(ABCD1):c.1394-3C>G
|
|
|
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=)
|
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
NM_000033.4(ABCD1):c.1401G>A (p.Val467=)
|
rs1603234733
|
|
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
|
|
|
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
|
rs2091752744
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
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.1430del (p.Glu477fs)
|
rs2148396057
|
|
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=)
|
|
|
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
|
|
|
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.1442T>C (p.Ile481Thr)
|
rs2148396070
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
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.1450C>T (p.Pro484Ser)
|
|
|
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
|
rs1603234759
|
|
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
|
|
|
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.146_159del (p.Pro49fs)
|
rs1569540676
|
|
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=)
|
rs2148396110
|
|
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
|
|
|
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
|
|
|
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
|
|
|
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.1487G>C (p.Arg496Thr)
|
|
|
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+1G>A
|
rs2091753176
|
|
NM_000033.4(ABCD1):c.1488+20C>G
|
|
|
NM_000033.4(ABCD1):c.1488+5G>C
|
rs2091753189
|
|
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.1489-1G>A
|
rs1603235263
|
|
NM_000033.4(ABCD1):c.1489-20A>G
|
|
|
NM_000033.4(ABCD1):c.1489-2A>G
|
|
|
NM_000033.4(ABCD1):c.1489-4G>C
|
rs1318153626
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1489-9C>A
|
rs782323354
|
|
NM_000033.4(ABCD1):c.1489-9C>T
|
|
|
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
|
|
|
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
|
|
|
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=)
|
rs2091762206
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)
|
rs2148397523
|
|
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
|
|
|
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
|
rs2091762267
|
|
NM_000033.4(ABCD1):c.150C>T (p.Ala50=)
|
rs1932354237
|
|
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
|
|
|
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr)
|
rs1557054740
|
|
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
|
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
|
|
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)
|
rs2148397545
|
|
NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg)
|
|
|
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
|
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)
|
rs2148397558
|
|
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
|
rs2091762383
|
|
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
|
|
|
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
|
rs2091762396
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)
|
rs2148397565
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)
|
rs2148388737
|
|
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)
|
|
|
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
|
|
|
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)
|
rs1159943880
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1569C>G (p.Leu523=)
|
rs2148397606
|
|
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
|
|
|
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
|
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=)
|
rs2091762690
|
|
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)
|
|
|
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe)
|
rs2148397623
|
|
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=)
|
rs2148397628
|
|
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)
|
rs1569541092
|
|
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
|
|
|
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.1615A>G (p.Met539Val)
|
rs782440686
|
|
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
|
|
|
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
|
|
|
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys)
|
rs2148397662
|
|
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)
|
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
|
rs1603235321
|
|
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=)
|
|
|
NM_000033.4(ABCD1):c.162G>A (p.Thr54=)
|
|
|
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
|
rs2091763089
|
|
NM_000033.4(ABCD1):c.1634+11C>G
|
|
|
NM_000033.4(ABCD1):c.1634+13G>A
|
|
|
NM_000033.4(ABCD1):c.1634+16C>T
|
|
|
NM_000033.4(ABCD1):c.1634+17G>A
|
|
|
NM_000033.4(ABCD1):c.1634+1G>C
|
|
|
NM_000033.4(ABCD1):c.1634+1G>T
|
|
|
NM_000033.4(ABCD1):c.1634+9G>A
|
rs2148397684
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
|
rs201054474
|
|
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
|
|
|
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile)
|
rs1569541112
|
|
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys)
|
rs2148397892
|
|
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)
|
rs2148397896
|
|
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
|
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=)
|
rs2148397902
|
|
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)
|
rs2148397899
|
|
NM_000033.4(ABCD1):c.1659G>A (p.Leu553=)
|
|
|
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
|
|
|
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)
|
rs1569541115
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
|
|
|
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
|
rs2091764450
|
|
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
|
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)
|
rs2148397922
|
|
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
|
rs2091764526
|
|
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn)
|
rs2091764566
|
|
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
|
|
|
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=)
|
rs199997983
|
|
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=)
|
|
|
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
|
rs2091764622
|
|
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
|
|
|
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)
|
rs2148397936
|
|
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)
|
|
|
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)
|
rs1557052133
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
|
|
|
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.1720C>T (p.Gln574Ter)
|
rs2148397954
|
|
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
|
|
|
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.1741_1755del (p.Asp581_Leu585del)
|
rs2091764754
|
|
NM_000033.4(ABCD1):c.1742_1781-968del
|
|
|
NM_000033.4(ABCD1):c.1746C>G (p.Val582=)
|
rs1557054863
|
|
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)
|
rs79383557
|
|
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
|
|
|
NM_000033.4(ABCD1):c.174C>T (p.Ser58=)
|
|
|
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
|
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
|
|
|
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+2T>G
|
rs1557054875
|
|
NM_000033.4(ABCD1):c.1780+5_1780+6insT
|
|
|
NM_000033.4(ABCD1):c.1780+7G>A
|
rs2148398011
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)
|
rs2148398002
|
|
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.1781-7del
|
|
|
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
|
rs1603235901
|
|
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)
|
rs2148398982
|
|
NM_000033.4(ABCD1):c.1788G>A (p.Glu596=)
|
|
|
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=)
|
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
|
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
|
|
|
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.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=)
|
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)
|
rs128624225
|
|
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=)
|
rs140263823
|
|
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
|
|
|
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)
|
rs2091772324
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1821T>G (p.Gly607=)
|
|
|
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
|
rs2091772331
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)
|
|
|
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=)
|
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)
|
rs2148399034
|
|
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)
|
rs1557055260
|
|
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=)
|
|
|
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
|
|
|
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
|
|
|
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
|
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
|
|
|
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+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1865+7A>G
|
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-10G>T
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-13C>T
|
rs200238438
|
|
NM_000033.4(ABCD1):c.1866-15G>A
|
|
|
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.1866-1G>A
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
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.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
|
|
|
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
|
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=)
|
rs782072619
|
|
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)
|
rs2148399209
|
|
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
|
rs2091773525
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
NM_000033.4(ABCD1):c.189C>G (p.Ala63=)
|
rs781837108
|
|
NM_000033.4(ABCD1):c.189C>T (p.Ala63=)
|
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1905G>T (p.Val635=)
|
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1917G>A (p.Val639=)
|
|
|
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
|
|
|
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
|
rs1603236012
|
|
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=)
|
rs2148399250
|
|
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
|
|
|
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.1933del (p.Gln645fs)
|
rs1603236013
|
|
NM_000033.4(ABCD1):c.1935G>A (p.Gln645=)
|
|
|
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
|
|
|
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.1945G>A (p.Asp649Asn)
|
|
|
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)
|
rs1557055332
|
|
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
|
rs1557055332
|
|
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)
|
rs1557055333
|
|
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=)
|
rs74315281
|
|
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
|
rs2091773987
|
|
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
|
|
|
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
|
rs2091774046
|
|
NM_000033.4(ABCD1):c.1965C>G (p.Leu655=)
|
|
|
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=)
|
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)
|
rs1603236020
|
|
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=)
|
|
|
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala)
|
rs2148399309
|
|
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr)
|
rs2091774102
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=)
|
|
|
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro)
|
rs2148399322
|
|
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=)
|
rs2148399324
|
|
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)
|
rs2148399327
|
|
NM_000033.4(ABCD1):c.198C>T (p.Gly66=)
|
|
|
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)
|
rs2148399330
|
|
NM_000033.4(ABCD1):c.1991+10C>G
|
|
|
NM_000033.4(ABCD1):c.1991+14C>T
|
|
|
NM_000033.4(ABCD1):c.1991+1G>A
|
|
|
NM_000033.4(ABCD1):c.1991+3A>G
|
|
|
NM_000033.4(ABCD1):c.1992-10T>C
|
rs2148399435
|
|
NM_000033.4(ABCD1):c.1992-2A>G
|
rs797044626
|
|
NM_000033.4(ABCD1):c.1992-4C>T
|
|
|
NM_000033.4(ABCD1):c.1992-6G>A
|
|
|
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.1997A>C (p.Tyr666Ser)
|
rs2091775035
|
|
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
|
rs2091775035
|
|
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)
|
rs1557055392
|
|
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)
|
|
|
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
|
rs2091702389
|
|
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)
|
rs1557055398
|
|
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
|
rs2091775127
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln)
|
rs2148399466
|
|
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
|
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
|
|
|
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
|
|
|
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
|
|
|
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)
|
rs2148399483
|
|
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
|
|
|
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=)
|
rs1569541208
|
|
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
|
|
|
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)
|
rs2091775375
|
|
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
|
|
|
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
|
|
|
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
|
|
|
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
|
|
|
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=)
|
rs1557055415
|
|
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
|
rs782311214
|
|
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=)
|
rs2148399523
|
|
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=)
|
|
|
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=)
|
|
|
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
|
|
|
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.2120C>T (p.Pro707Leu)
|
|
|
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=)
|
rs1557055435
|
|
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
|
|
|
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)
|
rs1557055447
|
|
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.2152C>T (p.Gln718Ter)
|
|
|
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
|
|
|
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=)
|
|
|
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
|
|
|
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.2178_2220del (p.Ala727fs)
|
|
|
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
|
|
|
NM_000033.4(ABCD1):c.2184T>C (p.His728=)
|
|
|
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
|
rs1603236153
|
|
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.2201C>T (p.Pro734Leu)
|
rs368462762
|
|
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.2221C>T (p.Gln741Ter)
|
rs2091776291
|
|
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp)
|
rs1603236168
|
|
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
|
|
|
NM_000033.4(ABCD1):c.225C>A (p.Leu75=)
|
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
|
|
|
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
|
|
|
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
|
rs868977355
|
|
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
|
|
|
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
|
|
|
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
|
|
|
NM_000033.4(ABCD1):c.244C>T (p.Leu82=)
|
|
|
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
|
rs782221851
|
|
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu)
|
rs782221851
|
|
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del)
|
rs2091704899
|
|
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp)
|
rs2148388871
|
|
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
|
rs2091705016
|
|
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
|
|
|
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln)
|
|
|
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
|
|
|
NM_000033.4(ABCD1):c.273G>A (p.Thr91=)
|
rs2148388896
|
|
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
|
|
|
NM_000033.4(ABCD1):c.282G>A (p.Leu94=)
|
rs2148388909
|
|
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
|
|
|
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.290A>C (p.His97Pro)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
|
|
|
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
|
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000033.4(ABCD1):c.297C>G (p.Ala99=)
|
rs889405096
|
|
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)
|
|
|
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
|
rs1557052298
|
|
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)
|
rs2148388538
|
|
NM_000033.4(ABCD1):c.300C>A (p.Ala100=)
|
|
|
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
|
|
|
NM_000033.4(ABCD1):c.306G>A (p.Val102=)
|
rs2148388966
|
|
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
|
|
|
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)
|
rs1304001811
|
|
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)
|
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.318C>T (p.Phe106=)
|
|
|
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
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.332T>C (p.Val111Ala)
|
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)
|
rs2148389007
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
|
rs398123110
|
|
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.359G>C (p.Arg120Pro)
|
|
|
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)
|
|
|
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)
|
rs1603231653
|
|
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.394T>C (p.Trp132Arg)
|
|
|
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
|
|
|
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
|
|
|
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
|
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
NM_000033.4(ABCD1):c.408G>A (p.Gln136=)
|
|
|
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
|
rs1603231897
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)
|
rs1557052351
|
|
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
|
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.423C>T (p.Ala141=)
|
rs2091706712
|
|
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
|
|
|
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
|
|
|
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)
|
rs1292006620
|
|
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.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.450C>T (p.Ala150=)
|
|
|
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
|
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
|
|
|
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)
|
rs1557052367
|
|
NM_000033.4(ABCD1):c.45G>A (p.Leu15=)
|
|
|
NM_000033.4(ABCD1):c.460C>T (p.Leu154=)
|
rs781895141
|
|
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp)
|
rs2091707109
|
|
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
|
|
|
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
|
|
|
NM_000033.4(ABCD1):c.474G>A (p.Leu158=)
|
|
|
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
|
|
|
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.482C>A (p.Ser161Ter)
|
rs373957035
|
|
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
|
rs2091707458
|
|
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
|
rs2148389278
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
|
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)
|
rs1057517954
|
|
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.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
|
|
|
NM_000033.4(ABCD1):c.501G>C (p.Val167=)
|
rs2148389307
|
|
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
|
|
|
NM_000033.4(ABCD1):c.504C>T (p.Ala168=)
|
|
|
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
|
|
|
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=)
|
|
|
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys)
|
|
|
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
|
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)
|
rs2148389350
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
|
rs2091708007
|
|
NM_000033.4(ABCD1):c.531G>A (p.Gln177=)
|
|
|
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)
|
rs1557052397
|
|
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
|
|
|
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
|
rs2091708150
|
|
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys)
|
|
|
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser)
|
rs1557052401
|
|
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
|
rs1603232005
|
|
NM_000033.4(ABCD1):c.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.562G>T (p.Gly188Trp)
|
|
|
NM_000033.4(ABCD1):c.564G>C (p.Gly188=)
|
rs1603232017
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)
|
|
|
NM_000033.4(ABCD1):c.573C>A (p.Arg191=)
|
|
|
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
|
rs2091708534
|
|
NM_000033.4(ABCD1):c.579T>G (p.Pro193=)
|
|
|
NM_000033.4(ABCD1):c.57C>T (p.Ala19=)
|
rs1603231679
|
|
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
|
rs2091708552
|
|
NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)
|
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
NM_000033.4(ABCD1):c.582C>T (p.Asp194=)
|
|
|
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
|
|
|
NM_000033.4(ABCD1):c.588T>C (p.Ser196=)
|
|
|
NM_000033.4(ABCD1):c.589C>T (p.Leu197=)
|
rs2148389466
|
|
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)
|
rs2148389462
|
|
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
|
|
|
NM_000033.4(ABCD1):c.591G>A (p.Leu197=)
|
rs2148389468
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.594G>C (p.Thr198=)
|
rs782046246
|
|
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)
|
rs2091708688
|
|
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu)
|
|
|
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu)
|
rs782724538
|
|
NM_000033.4(ABCD1):c.603G>T (p.Val201=)
|
|
|
NM_000033.4(ABCD1):c.609C>G (p.Ala203=)
|
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)
|
rs2148389516
|
|
NM_000033.4(ABCD1):c.633C>G (p.Leu211=)
|
rs145009407
|
|
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
|
rs782567718
|
|
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe)
|
rs782567718
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
|
rs1603232050
|
|
NM_000033.4(ABCD1):c.648C>G (p.Thr216=)
|
rs782200450
|
|
NM_000033.4(ABCD1):c.648C>T (p.Thr216=)
|
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.658C>T (p.Leu220=)
|
rs2148389558
|
|
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
|
rs2091709142
|
|
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
|
|
|
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
|
rs2091709198
|
|
NM_000033.4(ABCD1):c.668_900+291del
|
rs2148389592
|
|
NM_000033.4(ABCD1):c.669T>C (p.Ala223=)
|
rs2148389594
|
|
NM_000033.4(ABCD1):c.66G>C (p.Leu22=)
|
|
|
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
|
|
|
NM_000033.4(ABCD1):c.684C>T (p.Thr228=)
|
rs2148389624
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)
|
rs147595334
|
|
NM_000033.4(ABCD1):c.697del (p.Ala233fs)
|
rs2148389670
|
|
NM_000033.4(ABCD1):c.6G>A (p.Pro2=)
|
rs2091702415
|
|
NM_000033.4(ABCD1):c.6G>T (p.Pro2=)
|
|
|
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
|
|
|
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
|
rs1557052478
|
|
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)
|
|
|
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)
|
rs782723557
|
|
NM_000033.4(ABCD1):c.702C>T (p.Arg234=)
|
rs2148389678
|
|
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
|
|
|
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)
|
|
|
NM_000033.4(ABCD1):c.708T>G (p.Arg236=)
|
|
|
NM_000033.4(ABCD1):c.70del (p.Leu24fs)
|
rs1557052171
|
|
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
|
|
|
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)
|
|
|
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
|
|
|
NM_000033.4(ABCD1):c.720A>C (p.Thr240=)
|
rs1302310288
|
|
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
|
rs1603232111
|
|
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
|
|
|
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.742G>A (p.Gly248Ser)
|
|
|
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
|
|
|
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.748G>A (p.Val250Met)
|
|
|
NM_000033.4(ABCD1):c.750G>A (p.Val250=)
|
|
|
NM_000033.4(ABCD1):c.750G>C (p.Val250=)
|
rs782196006
|
|
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
|
|
|
NM_000033.4(ABCD1):c.75G>A (p.Ala25=)
|
|
|
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)
|
rs2148389772
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
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.763G>C (p.Ala255Pro)
|
|
|
NM_000033.4(ABCD1):c.765C>G (p.Ala255=)
|
rs2148389784
|
|
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)
|
rs1557052530
|
|
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
|
|
|
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro)
|
rs1569540731
|
|
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
|
|
|
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
|
|
|
NM_000033.4(ABCD1):c.780C>A (p.Ala260=)
|
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
|
rs2091710960
|
|
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
|
|
|
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)
|
rs2148389834
|
|
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
|
rs1603232171
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
|
rs2091711094
|
|
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
|
|
|
NM_000033.4(ABCD1):c.798G>A (p.Gly266=)
|
rs2148389855
|
|
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
|
|
|
NM_000033.4(ABCD1):c.804G>A (p.Leu268=)
|
rs1270284411
|
|
NM_000033.4(ABCD1):c.804G>C (p.Leu268=)
|
|
|
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
|
rs2091711117
|
|
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
|
|
|
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
|
rs2091711183
|
|
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser)
|
rs1324272283
|
|
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu)
|
rs868992338
|
|
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
|
rs2091711370
|
|
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
|
|
|
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.828G>T (p.Lys276Asn)
|
|
|
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
|
|
|
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)
|
rs2091711473
|
|
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)
|
|
|
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)
|
rs2148389929
|
|
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
|
|
|
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.852G>A (p.Ser284=)
|
rs1034154728
|
|
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.855T>C (p.Arg285=)
|
rs1471236066
|
|
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)
|
|
|
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
|
|
|
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
|
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
|
|
|
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
|
|
|
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)
|
rs2148389975
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)
|
rs1557052573
|
|
NM_000033.4(ABCD1):c.879C>T (p.Ile293=)
|
rs1176122000
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=)
|
rs2091712169
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.893dup (p.His299fs)
|
|
|
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
|
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+6dup
|
|
|
NM_000033.4(ABCD1):c.900+8A>G
|
rs2148390036
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-18G>A
|
|
|
NM_000033.4(ABCD1):c.901-2A>G
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.901-4G>C
|
rs782306934
|
|
NM_000033.4(ABCD1):c.901-5C>A
|
rs782603062
|
|
NM_000033.4(ABCD1):c.901-5del
|
rs782805046
|
|
NM_000033.4(ABCD1):c.901-5dup
|
|
|
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.901-9_903del
|
rs2148391889
|
|
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
|
|
|
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)
|
rs2091726251
|
|
NM_000033.4(ABCD1):c.912C>G (p.Ala304=)
|
|
|
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
|
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro)
|
rs781978255
|
|
NM_000033.4(ABCD1):c.924C>T (p.Arg308=)
|
|
|
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
|
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.936C>T (p.Asp312=)
|
rs782131008
|
|
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
|
rs2091726449
|
|
NM_000033.4(ABCD1):c.93A>G (p.Lys31=)
|
rs2148388633
|
|
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
|
rs2091726463
|
|
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.956T>C (p.Leu319Pro)
|
|
|
NM_000033.4(ABCD1):c.957C>G (p.Leu319=)
|
|
|
NM_000033.4(ABCD1):c.963T>C (p.Leu321=)
|
|
|
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)
|
rs2148391974
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
|
|
|
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro)
|
rs148904415
|
|
NM_000033.4(ABCD1):c.975G>T (p.Leu325=)
|
|
|
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=)
|
rs1179912920
|
|
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile)
|
rs2148391987
|
|
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly)
|
rs2148391989
|
|
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
|
|
|
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
|
rs1603233113
|
|
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
|
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)
|
|
|
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
|
rs2091726671
|
|
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
|
|
|
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
|
|
|
NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?))
|
|
|
NM_000383.4(AIRE):c.-17_27del (p.Met1fs)
|
rs2040477031
|
|
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
|
|
|
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.1010G>T (p.Cys337Phe)
|
|
|
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
|
|
|
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
|
|
|
NM_000383.4(AIRE):c.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>A (p.Asp34Glu)
|
|
|
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.1045C>T (p.Gln349Ter)
|
|
|
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg)
|
rs1013117342
|
|
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly)
|
rs149078622
|
|
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
|
|
|
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
|
|
|
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup)
|
rs1481102287
|
|
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
|
|
|
NM_000383.4(AIRE):c.1062G>A (p.Glu354=)
|
rs867985822
|
|
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del)
|
rs1555872876
|
|
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
|
|
|
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
|
|
|
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)
|
rs1555872879
|
|
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
|
|
|
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
|
|
|
NM_000383.4(AIRE):c.107del (p.Asp36fs)
|
|
|
NM_000383.4(AIRE):c.1083C>G (p.Pro361=)
|
rs201010030
|
|
NM_000383.4(AIRE):c.1084G>A (p.Val362Met)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1084del (p.Val362fs)
|
rs1057517254
|
|
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
|
|
|
NM_000383.4(AIRE):c.1089G>A (p.Glu363=)
|
rs1317375627
|
|
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
|
|
|
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
|
|
|
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn)
|
rs757362732
|
|
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
|
|
|
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile)
|
rs757362732
|
|
NM_000383.4(AIRE):c.1092C>G (p.Thr364=)
|
rs1367419200
|
|
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
|
|
|
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
|
|
|
NM_000383.4(AIRE):c.1095+10C>A
|
rs372932833
|
|
NM_000383.4(AIRE):c.1095+16del
|
|
|
NM_000383.4(AIRE):c.1095+18C>T
|
|
|
NM_000383.4(AIRE):c.1095+19C>T
|
|
|
NM_000383.4(AIRE):c.1095+1G>C
|
|
|
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+4T>G
|
|
|
NM_000383.4(AIRE):c.1095+7C>A
|
rs2146382492
|
|
NM_000383.4(AIRE):c.1095G>A (p.Pro365=)
|
rs750688330
|
|
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.1100C>T (p.Pro367Leu)
|
|
|
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
|
|
|
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala)
|
rs768381413
|
|
NM_000383.4(AIRE):c.1103dup (p.Leu370fs)
|
rs387906293
|
|
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.1121G>T (p.Gly374Val)
|
|
|
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
|
|
|
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
|
|
|
NM_000383.4(AIRE):c.1125G>A (p.Glu375=)
|
rs1601969062
|
|
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
|
|
|
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
|
|
|
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
|
|
|
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs)
|
rs746933095
|
|
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.1151C>T (p.Pro384Leu)
|
rs1469479088
|
|
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.1159G>A (p.Gly387Ser)
|
|
|
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
|
|
|
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
|
|
|
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.1181A>G (p.Tyr394Cys)
|
rs763440543
|
|
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter)
|
rs1482020075
|
|
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs)
|
rs2146383463
|
|
NM_000383.4(AIRE):c.1193del (p.Pro398fs)
|
rs1555872988
|
|
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
|
|
|
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
|
|
|
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp)
|
rs2040560125
|
|
NM_000383.4(AIRE):c.11A>T (p.Asp4Val)
|
rs2146375006
|
|
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
|
|
|
NM_000383.4(AIRE):c.1206T>C (p.Ser402=)
|
rs1327799658
|
|
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr)
|
rs543891914
|
|
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
|
|
|
NM_000383.4(AIRE):c.1214del (p.Pro405fs)
|
rs2040560523
|
|
NM_000383.4(AIRE):c.1215G>T (p.Pro405=)
|
rs72650676
|
|
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
|
|
|
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
|
|
|
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg)
|
rs2146383548
|
|
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.122A>G (p.Asp41Gly)
|
|
|
NM_000383.4(AIRE):c.1230C>T (p.Asp410=)
|
rs2146383558
|
|
NM_000383.4(AIRE):c.1233del (p.Ser412fs)
|
rs2146383573
|
|
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.1249C>A (p.Leu417Ile)
|
rs1248107084
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs)
|
rs2146383561
|
|
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
|
|
|
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr)
|
rs756933733
|
|
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe)
|
rs756933733
|
|
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs)
|
rs759281545
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
|
|
|
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
|
|
|
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
|
|
|
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)
|
rs1601969308
|
|
NM_000383.4(AIRE):c.1278+10G>C
|
|
|
NM_000383.4(AIRE):c.1278+12G>A
|
rs371283816
|
|
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+1del
|
rs996389327
|
|
NM_000383.4(AIRE):c.1278+5dup
|
rs2146383693
|
|
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.1279-2A>G
|
rs1555873087
|
|
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.1285G>T (p.Ala429Ser)
|
|
|
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
|
|
|
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
|
|
|
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.1302C>A (p.Cys434Ter)
|
|
|
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
|
|
|
NM_000383.4(AIRE):c.1305G>A (p.Gly435=)
|
rs2146384547
|
|
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
|
|
|
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
|
|
|
NM_000383.4(AIRE):c.1317T>C (p.Asp439=)
|
rs1474485684
|
|
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
|
|
|
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+1_132+3delinsCT
|
rs886041293
|
|
NM_000383.4(AIRE):c.132+22del
|
|
|
NM_000383.4(AIRE):c.132+2T>C
|
|
|
NM_000383.4(AIRE):c.132+8C>G
|
rs1568926049
|
|
NM_000383.4(AIRE):c.132+8C>T
|
|
|
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala)
|
rs768250058
|
|
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
|
|
|
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
|
|
|
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.1344C>G (p.His448Gln)
|
rs201131119
|
|
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
|
|
|
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
|
|
|
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.1354G>A (p.Ala452Thr)
|
rs1480139411
|
|
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
|
|
|
NM_000383.4(AIRE):c.1362C>T (p.His454=)
|
rs2146384697
|
|
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000383.4(AIRE):c.1368C>T (p.Arg456=)
|
rs2146384725
|
|
NM_000383.4(AIRE):c.1373A>G (p.His458Arg)
|
rs1601969955
|
|
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
|
|
|
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
|
|
|
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
|
|
|
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
|
|
|
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
|
|
|
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
|
|
|
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.1393C>T (p.Arg465Trp)
|
|
|
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
|
|
|
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
|
|
|
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser)
|
rs1411629170
|
|
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
|
|
|
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
|
|
|
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu)
|
rs2146375021
|
|
NM_000383.4(AIRE):c.1400+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+1G>A
|
rs1469386000
|
|
NM_000383.4(AIRE):c.1400+20G>A
|
|
|
NM_000383.4(AIRE):c.1400+2T>C
|
|
|
NM_000383.4(AIRE):c.1400+6T>A
|
|
|
NM_000383.4(AIRE):c.1400+9G>A
|
rs2146384820
|
|
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
|
|
|
NM_000383.4(AIRE):c.1401-10T>G
|
|
|
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.1401-1G>A
|
|
|
NM_000383.4(AIRE):c.1401-4G>A
|
rs2146385724
|
|
NM_000383.4(AIRE):c.1401-5T>C
|
rs1206047355
|
|
NM_000383.4(AIRE):c.1401-5T>G
|
|
|
NM_000383.4(AIRE):c.1401-8T>C
|
|
|
NM_000383.4(AIRE):c.1401-9C>G
|
|
|
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
|
|
|
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)
|
rs7281600
|
|
NM_000383.4(AIRE):c.1404G>C (p.Thr468=)
|
rs7281600
|
|
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
|
|
|
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
|
|
|
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
|
|
|
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
|
|
|
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
|
|
|
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
|
|
|
NM_000383.4(AIRE):c.1417A>C (p.Arg473=)
|
rs2146385780
|
|
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr)
|
rs750662701
|
|
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
|
|
|
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
|
|
|
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter)
|
rs866898746
|
|
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
|
|
|
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
|
|
|
NM_000383.4(AIRE):c.143_145del (p.His48del)
|
rs1601964364
|
|
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.1447C>A (p.Pro483Thr)
|
rs780816581
|
|
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
|
|
|
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg)
|
rs2146385840
|
|
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
|
|
|
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
|
|
|
NM_000383.4(AIRE):c.1452G>T (p.Val484=)
|
rs2146385848
|
|
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
|
|
|
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
|
|
|
NM_000383.4(AIRE):c.1464G>A (p.Leu488=)
|
rs2146385885
|
|
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
|
|
|
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val)
|
rs2146385893
|
|
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
|
|
|
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
|
|
|
NM_000383.4(AIRE):c.1473C>T (p.Ser491=)
|
rs761718813
|
|
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
|
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
|
|
|
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)
|
rs1057517072
|
|
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu)
|
rs528762050
|
|
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.1497del (p.Ala500fs)
|
|
|
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
|
|
|
NM_000383.4(AIRE):c.14_15del (p.Ala5fs)
|
rs2146375012
|
|
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+1G>A
|
|
|
NM_000383.4(AIRE):c.1503+1G>T
|
rs1156582406
|
|
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.1505A>T (p.Asp502Val)
|
rs1444691231
|
|
NM_000383.4(AIRE):c.1512T>C (p.Thr504=)
|
rs2040607807
|
|
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
|
|
|
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
|
|
|
NM_000383.4(AIRE):c.1521C>T (p.His507=)
|
rs751968210
|
|
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
|
|
|
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser)
|
rs999281375
|
|
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
|
|
|
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
|
|
|
NM_000383.4(AIRE):c.1540del (p.Asp514fs)
|
rs2146388096
|
|
NM_000383.4(AIRE):c.1545C>T (p.Asp515=)
|
rs2146388098
|
|
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
|
|
|
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
|
|
|
NM_000383.4(AIRE):c.1554C>T (p.Ser518=)
|
rs1432714738
|
|
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
|
|
|
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
|
|
|
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)
|
rs746873146
|
|
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
|
|
|
NM_000383.4(AIRE):c.1566+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+15G>A
|
rs2040609241
|
|
NM_000383.4(AIRE):c.1566+18C>T
|
|
|
NM_000383.4(AIRE):c.1566+1G>C
|
|
|
NM_000383.4(AIRE):c.1566+5C>T
|
|
|
NM_000383.4(AIRE):c.1566+6G>A
|
|
|
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.1567-1G>A
|
rs1601973101
|
|
NM_000383.4(AIRE):c.1575C>T (p.Phe525=)
|
rs1399845704
|
|
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
|
|
|
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)
|
rs1057516272
|
|
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
|
|
|
NM_000383.4(AIRE):c.1587G>A (p.Leu529=)
|
rs779142964
|
|
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
|
|
|
NM_000383.4(AIRE):c.159G>A (p.Glu53=)
|
rs1413552217
|
|
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
|
|
|
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg)
|
rs2146389859
|
|
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
|
|
|
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
|
|
|
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
|
|
|
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
|
|
|
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
|
|
|
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
|
|
|
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu)
|
rs2040484477
|
|
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly)
|
rs747941115
|
|
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
|
|
|
NM_000383.4(AIRE):c.177C>T (p.Phe59=)
|
rs2146375781
|
|
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
|
|
|
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
|
|
|
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
|
|
|
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
|
|
|
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs)
|
rs2146375818
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
|
|
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
|
|
|
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter)
|
rs2146375836
|
|
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
|
|
|
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
|
rs1601963938
|
|
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
|
|
|
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
|
|
|
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
|
|
|
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
|
|
|
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
|
|
|
NM_000383.4(AIRE):c.240G>A (p.Val80=)
|
|
|
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
|
|
|
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)
|
rs121434255
|
|
NM_000383.4(AIRE):c.249G>A (p.Lys83=)
|
rs2146375874
|
|
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
|
|
|
NM_000383.4(AIRE):c.253_255del (p.Tyr85del)
|
rs2146375885
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
|
|
|
NM_000383.4(AIRE):c.260del (p.Leu87fs)
|
rs1057517428
|
|
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
|
|
|
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
|
|
|
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys)
|
rs179363883
|
|
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
|
|
|
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
|
|
|
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
|
|
|
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)
|
rs179363884
|
|
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
|
|
|
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
|
|
|
NM_000383.4(AIRE):c.282G>A (p.Gln94=)
|
rs776836665
|
|
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
|
|
|
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
|
|
|
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu)
|
rs2146375950
|
|
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro)
|
rs2146375951
|
|
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.2T>C (p.Met1Thr)
|
|
|
NM_000383.4(AIRE):c.2T>G (p.Met1Arg)
|
rs2146374989
|
|
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+2T>G
|
rs2146375964
|
|
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.308-18C>T
|
|
|
NM_000383.4(AIRE):c.308-3C>T
|
|
|
NM_000383.4(AIRE):c.308-6C>T
|
|
|
NM_000383.4(AIRE):c.308-7G>T
|
|
|
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
|
|
|
NM_000383.4(AIRE):c.312G>A (p.Val104=)
|
|
|
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter)
|
rs1472808103
|
|
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
|
|
|
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
|
|
|
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
|
|
|
NM_000383.4(AIRE):c.328del (p.Arg110fs)
|
rs1162316051
|
|
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
|
|
|
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
|
|
|
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.340A>T (p.Lys114Ter)
|
rs2146376221
|
|
NM_000383.4(AIRE):c.347del (p.Pro116fs)
|
rs1568926472
|
|
NM_000383.4(AIRE):c.348G>C (p.Pro116=)
|
rs74162060
|
|
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
|
|
|
NM_000383.4(AIRE):c.349del (p.Ala117fs)
|
|
|
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.355C>A (p.Pro119Thr)
|
|
|
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
|
|
|
NM_000383.4(AIRE):c.36del (p.Arg12fs)
|
rs2146375064
|
|
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.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro)
|
rs201965760
|
|
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
|
|
|
NM_000383.4(AIRE):c.420T>C (p.Ala140=)
|
rs2146376372
|
|
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
|
|
|
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
|
|
|
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.43C>G (p.Arg15Gly)
|
rs179363875
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
|
|
|
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
|
|
|
NM_000383.4(AIRE):c.444A>C (p.Pro148=)
|
rs2146376404
|
|
NM_000383.4(AIRE):c.449del (p.Gly150fs)
|
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
|
|
|
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
|
|
|
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
|
|
|
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+5C>A
|
|
|
NM_000383.4(AIRE):c.463+5C>T
|
rs569224551
|
|
NM_000383.4(AIRE):c.463+6C>G
|
rs2146376456
|
|
NM_000383.4(AIRE):c.463+7del
|
|
|
NM_000383.4(AIRE):c.464-16C>T
|
|
|
NM_000383.4(AIRE):c.464-16del
|
|
|
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.467C>T (p.Ser156Phe)
|
|
|
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter)
|
rs1488613451
|
|
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
|
|
|
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup)
|
rs2040477781
|
|
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
|
|
|
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
|
|
|
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro)
|
rs2040495001
|
|
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
|
|
|
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr)
|
rs1568926733
|
|
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)
|
rs179363877
|
|
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
|
|
|
NM_000383.4(AIRE):c.483G>A (p.Lys161=)
|
rs2040495155
|
|
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
|
|
|
NM_000383.4(AIRE):c.489del (p.Lys164fs)
|
rs746101086
|
|
NM_000383.4(AIRE):c.489dup (p.Lys164fs)
|
rs746101086
|
|
NM_000383.4(AIRE):c.48G>C (p.Thr16=)
|
rs2146375080
|
|
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
|
|
|
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
|
|
|
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
|
|
|
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
|
|
|
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs)
|
rs1179261094
|
|
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.519G>A (p.Gln173=)
|
rs2146376946
|
|
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly)
|
rs752687905
|
|
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro)
|
rs972262344
|
|
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu)
|
rs375658223
|
|
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
|
|
|
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
|
|
|
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.539-2A>G
|
rs2146377702
|
|
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.539_540delinsAT (p.Gly180Asp)
|
rs2146377706
|
|
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro)
|
rs2040502920
|
|
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
|
|
|
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
|
|
|
NM_000383.4(AIRE):c.550A>G (p.Met184Val)
|
rs2146377723
|
|
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
|
|
|
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter)
|
rs143952576
|
|
NM_000383.4(AIRE):c.564C>A (p.Val188=)
|
rs201650973
|
|
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
|
|
|
NM_000383.4(AIRE):c.581T>C (p.Met194Thr)
|
rs1351412367
|
|
NM_000383.4(AIRE):c.599dup (p.Ala202fs)
|
rs1213326298
|
|
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.616G>A (p.Val206Met)
|
|
|
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
|
|
|
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
|
|
|
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu)
|
rs1029475010
|
|
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+2T>C
|
rs1555872272
|
|
NM_000383.4(AIRE):c.652+6C>T
|
|
|
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.680_681delinsAT (p.Gly227Asp)
|
rs2146379169
|
|
NM_000383.4(AIRE):c.681C>G (p.Gly227=)
|
rs1055311
|
|
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
|
|
|
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly)
|
rs2040478254
|
|
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.709G>T (p.Glu237Ter)
|
|
|
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
|
|
|
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
|
|
|
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr)
|
rs2146379236
|
|
NM_000383.4(AIRE):c.717C>G (p.Ser239=)
|
rs149130190
|
|
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
|
|
|
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
|
|
|
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu)
|
rs2040517102
|
|
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
|
|
|
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
|
|
|
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
|
|
|
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
|
|
|
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
|
|
|
NM_000383.4(AIRE):c.741C>A (p.Arg247=)
|
rs1417017303
|
|
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
|
|
|
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
|
|
|
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
|
|
|
NM_000383.4(AIRE):c.747del (p.Ser249fs)
|
rs2146379302
|
|
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.766G>A (p.Val256Ile)
|
rs753558091
|
|
NM_000383.4(AIRE):c.768del (p.Arg257fs)
|
|
|
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.784C>T (p.Gln262Ter)
|
rs2146379356
|
|
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg)
|
rs2040517979
|
|
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+1G>C
|
rs138489664
|
|
NM_000383.4(AIRE):c.798+1G>T
|
rs138489664
|
|
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.798dup (p.Gly267fs)
|
|
|
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.816G>T (p.Arg272Ser)
|
rs1568927979
|
|
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.823del (p.Gln275fs)
|
rs764819068
|
|
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
|
|
|
NM_000383.4(AIRE):c.828G>A (p.Gln276=)
|
rs2146379663
|
|
NM_000383.4(AIRE):c.831C>T (p.Gly277=)
|
rs1180944731
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000383.4(AIRE):c.834C>T (p.Ser278=)
|
rs1800520
|
|
NM_000383.4(AIRE):c.837T>C (p.Val279=)
|
|
|
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr)
|
rs1311252316
|
|
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
|
|
|
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
|
|
|
NM_000383.4(AIRE):c.858C>A (p.Pro286=)
|
rs1314044062
|
|
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
|
|
|
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
|
|
|
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
|
|
|
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
|
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
NM_000383.4(AIRE):c.876C>T (p.His292=)
|
|
|
NM_000383.4(AIRE):c.878del (p.Gln293fs)
|
|
|
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.889G>A (p.Asp297Asn)
|
rs2040534355
|
|
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp)
|
rs868756561
|
|
NM_000383.4(AIRE):c.899C>T (p.Ala300Val)
|
rs868756561
|
|
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
|
|
|
NM_000383.4(AIRE):c.903G>C (p.Val301=)
|
rs1368560349
|
|
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
|
|
|
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)
|
rs754932526
|
|
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
|
|
|
NM_000383.4(AIRE):c.925A>G (p.Ile309Val)
|
rs936714310
|
|
NM_000383.4(AIRE):c.930C>T (p.Cys310=)
|
rs2146380972
|
|
NM_000383.4(AIRE):c.931del (p.Cys311fs)
|
rs1555872755
|
|
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
|
|
|
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
|
|
|
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
|
|
|
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
|
|
|
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
|
|
|
NM_000383.4(AIRE):c.958del (p.Leu320fs)
|
rs1568928525
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
|
|
|
NM_000383.4(AIRE):c.969_975del (p.Ser324fs)
|
rs2146381019
|
|
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.985G>A (p.Glu329Lys)
|
|
|
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.995+1G>A
|
|
|
NM_000383.4(AIRE):c.995+1G>C
|
|
|
NM_000383.4(AIRE):c.995+3_995+5delinsTAT
|
rs2040536458
|
|
NM_000383.4(AIRE):c.996-14G>A
|
|
|
NM_000383.4(AIRE):c.996-15T>C
|
|
|
NM_000383.4(AIRE):c.996-1G>A
|
|
|
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.999G>T (p.Gly333=)
|
rs1445602810
|
|
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.1022A>G (p.His341Arg)
|
|
|
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
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.1103G>T (p.Cys368Phe)
|
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
|
|
|
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
|
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
|
|
|
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
|
|
|
NM_000475.5(NR0B1):c.1168+10C>G
|
|
|
NM_000475.5(NR0B1):c.1168+13dup
|
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
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.1170C>T (p.Asp390=)
|
|
|
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
|
|
|
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
|
|
|
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.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
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.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
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.1354A>G (p.Ile452Val)
|
|
|
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
|
|
|
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.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>C (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.174G>A (p.Arg58=)
|
|
|
NM_000475.5(NR0B1):c.18C>T (p.His6=)
|
|
|
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
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.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
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>A (p.Thr85=)
|
|
|
NM_000475.5(NR0B1):c.255G>T (p.Thr85=)
|
rs759371222
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
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.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
|
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
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.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
|
|
|
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
|
|
|
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
|
|
|
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.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
|
|
|
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
|
|
|
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
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.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
|
|
|
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
|
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
|
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
|
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
|
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
|
|
|
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
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.607G>A (p.Gly203Ser)
|
|
|
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.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
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.698C>T (p.Ala233Val)
|
|
|
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.725C>T (p.Ala242Val)
|
|
|
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
|
|
|
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
|
|
|
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
|
|
|
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
|
|
|
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
|
|
|
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.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
|
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
|
|
|
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
|
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
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.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
|
|
|
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
|
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
|
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
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.973C>T (p.Arg325Trp)
|
|
|
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
|
|
|
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
|
|
|
NM_001370259.2(MEN1):c.-2C>T
|
rs653534
|
|
NM_001370259.2(MEN1):c.1000G>A (p.Val334Met)
|
rs1555165027
|
|
NM_001370259.2(MEN1):c.1001T>A (p.Val334Glu)
|
|
|
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs)
|
rs2136119153
|
|
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup)
|
rs1114167529
|
|
NM_001370259.2(MEN1):c.1008A>G (p.Glu336=)
|
|
|
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)
|
rs2071312
|
|
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met)
|
rs771554497
|
|
NM_001370259.2(MEN1):c.100C>T (p.Leu34=)
|
rs771554497
|
|
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)
|
rs2136118998
|
|
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=)
|
|
|
NM_001370259.2(MEN1):c.1013del (p.Leu338fs)
|
rs2136118927
|
|
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=)
|
|
|
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro)
|
rs2136118718
|
|
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs)
|
rs1941717148
|
|
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly)
|
rs2136118671
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys)
|
|
|
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)
|
rs776561706
|
|
NM_001370259.2(MEN1):c.1025_1032del (p.Ala342fs)
|
|
|
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=)
|
rs878855184
|
|
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn)
|
rs2136118303
|
|
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu)
|
rs878855185
|
|
NM_001370259.2(MEN1):c.102G>A (p.Leu34=)
|
rs1255708093
|
|
NM_001370259.2(MEN1):c.102G>C (p.Leu34=)
|
rs1255708093
|
|
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=)
|
rs760183888
|
|
NM_001370259.2(MEN1):c.1033G>T (p.Ala345Ser)
|
|
|
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=)
|
|
|
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser)
|
rs2136117914
|
|
NM_001370259.2(MEN1):c.1037C>G (p.Thr346Ser)
|
|
|
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu)
|
|
|
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp)
|
rs1592642971
|
|
NM_001370259.2(MEN1):c.1045del (p.Gln349fs)
|
rs2136117722
|
|
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+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+1G>C
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.1049+6G>A
|
|
|
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.1049A>T (p.Asp350Val)
|
|
|
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.1050-2A>G
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1050-2A>T
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1050-34_1050-14del
|
|
|
NM_001370259.2(MEN1):c.1050-3C>T
|
rs2136111597
|
|
NM_001370259.2(MEN1):c.1050-7C>T
|
rs1000294408
|
|
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)
|
rs767078097
|
|
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=)
|
rs1565642741
|
|
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser)
|
rs1592640870
|
|
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs)
|
rs2136111335
|
|
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=)
|
rs1592640846
|
|
NM_001370259.2(MEN1):c.105G>A (p.Val35=)
|
|
|
NM_001370259.2(MEN1):c.105dup (p.Leu36fs)
|
rs1555166711
|
|
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe)
|
rs904261642
|
|
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=)
|
rs104894265
|
|
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp)
|
rs863224807
|
|
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)
|
rs1114167474
|
|
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=)
|
rs1592640719
|
|
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=)
|
rs1592640719
|
|
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn)
|
rs768448073
|
|
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys)
|
rs1941674204
|
|
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)
|
rs1060499971
|
|
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp)
|
|
|
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=)
|
rs1168237114
|
|
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu)
|
rs1941672276
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.1088A>G (p.Glu363Gly)
|
|
|
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=)
|
rs2136110455
|
|
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp)
|
|
|
NM_001370259.2(MEN1):c.108C>G (p.Leu36=)
|
rs1592660352
|
|
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
|
|
|
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu)
|
rs863224808
|
|
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu)
|
rs1592640479
|
|
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=)
|
rs1592640464
|
|
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
|
|
|
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
|
|
|
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala)
|
rs2136110269
|
|
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=)
|
|
|
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser)
|
rs1368034727
|
|
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile)
|
rs1941669758
|
|
NM_001370259.2(MEN1):c.1113C>A (p.Val371=)
|
|
|
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=)
|
rs535417698
|
|
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=)
|
rs535417698
|
|
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
|
|
|
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser)
|
rs755168633
|
|
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val)
|
rs1211957325
|
|
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln)
|
rs1941668371
|
|
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=)
|
rs867481093
|
|
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=)
|
rs867481093
|
|
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg)
|
rs766075737
|
|
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=)
|
rs1555164674
|
|
NM_001370259.2(MEN1):c.1134G>A (p.Glu378=)
|
|
|
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr)
|
rs2136109409
|
|
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs)
|
rs1592640181
|
|
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=)
|
rs2136109300
|
|
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly)
|
rs1565642307
|
|
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
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.1150G>T (p.Glu384Ter)
|
|
|
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.1156G>A (p.Gly386Ser)
|
rs767595183
|
|
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala)
|
rs761360623
|
|
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.1158C>T (p.Gly386=)
|
rs794728653
|
|
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)
|
|
|
NM_001370259.2(MEN1):c.1165C>A (p.Arg389=)
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro)
|
rs775267651
|
|
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=)
|
rs1194388602
|
|
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg)
|
rs761102084
|
|
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=)
|
rs587780841
|
|
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=)
|
rs587780841
|
|
NM_001370259.2(MEN1):c.1171G>A (p.Gly391Arg)
|
|
|
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu)
|
rs998827212
|
|
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=)
|
rs1592639850
|
|
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)
|
rs772588551
|
|
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.117G>A (p.Leu39=)
|
rs2136193601
|
|
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs)
|
rs2136193574
|
|
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+18C>T
|
rs780329058
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1185+3G>A
|
rs1199137996
|
|
NM_001370259.2(MEN1):c.1185+6A>G
|
rs2136107870
|
|
NM_001370259.2(MEN1):c.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.1190C>T (p.Thr397Ile)
|
rs1941628720
|
|
NM_001370259.2(MEN1):c.1191C>A (p.Thr397=)
|
|
|
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=)
|
rs1166154585
|
|
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu)
|
rs886039418
|
|
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs)
|
rs1555164430
|
|
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His)
|
rs1592637824
|
|
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly)
|
rs1941626700
|
|
NM_001370259.2(MEN1):c.1196G>A (p.Ser399Asn)
|
|
|
NM_001370259.2(MEN1):c.1196G>C (p.Ser399Thr)
|
|
|
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)
|
rs386134248
|
|
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr)
|
rs1592661250
|
|
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)
|
rs878855186
|
|
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)
|
rs1941625647
|
|
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=)
|
rs878855187
|
|
NM_001370259.2(MEN1):c.1205C>A (p.Ser402Tyr)
|
|
|
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=)
|
rs770037856
|
|
NM_001370259.2(MEN1):c.1206del (p.Ala403fs)
|
rs1941624571
|
|
NM_001370259.2(MEN1):c.120G>T (p.Val40=)
|
rs1306316325
|
|
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe)
|
rs1060499989
|
|
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His)
|
rs1941623255
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
|
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=)
|
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)
|
rs1114167513
|
|
NM_001370259.2(MEN1):c.1216G>A (p.Asp406Asn)
|
|
|
NM_001370259.2(MEN1):c.1216G>C (p.Asp406His)
|
|
|
NM_001370259.2(MEN1):c.1218C>G (p.Asp406Glu)
|
|
|
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)
|
rs1060499985
|
|
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)
|
rs1592637455
|
|
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)
|
rs1592637440
|
|
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter)
|
rs2136102861
|
|
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln)
|
rs1941620661
|
|
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)
|
rs1114167524
|
|
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)
|
|
|
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
|
|
|
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser)
|
rs757179911
|
|
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
|
|
|
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=)
|
|
|
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr)
|
|
|
NM_001370259.2(MEN1):c.1234del (p.His412fs)
|
|
|
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)
|
rs1446518998
|
|
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=)
|
|
|
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)
|
rs1942013583
|
|
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=)
|
rs751481164
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)
|
rs1592637081
|
|
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu)
|
rs2071313
|
|
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)
|
|
|
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)
|
rs1941615895
|
|
NM_001370259.2(MEN1):c.1257C>G (p.Gly419=)
|
|
|
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=)
|
|
|
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)
|
rs1565652689
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)
|
|
|
NM_001370259.2(MEN1):c.1266del (p.Lys422fs)
|
rs2136101566
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
|
|
|
NM_001370259.2(MEN1):c.126C>T (p.Gly42=)
|
rs2136193097
|
|
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys)
|
rs1114167477
|
|
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del)
|
rs2136101303
|
|
NM_001370259.2(MEN1):c.1277_1350+28del
|
rs1941598294
|
|
NM_001370259.2(MEN1):c.1278C>T (p.Gly426=)
|
|
|
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)
|
rs1555164245
|
|
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs)
|
rs2136101131
|
|
NM_001370259.2(MEN1):c.1282C>G (p.Pro428Ala)
|
|
|
NM_001370259.2(MEN1):c.1282C>T (p.Pro428Ser)
|
|
|
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met)
|
rs757803925
|
|
NM_001370259.2(MEN1):c.1287G>C (p.Thr429=)
|
|
|
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=)
|
rs376598079
|
|
NM_001370259.2(MEN1):c.1289C>A (p.Pro430His)
|
|
|
NM_001370259.2(MEN1):c.1290T>G (p.Pro430=)
|
|
|
NM_001370259.2(MEN1):c.1293G>A (p.Val431=)
|
|
|
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr)
|
rs1941611706
|
|
NM_001370259.2(MEN1):c.1298_1299delinsGC (p.His433Arg)
|
|
|
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu)
|
rs1592660139
|
|
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
|
|
|
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met)
|
rs767854775
|
|
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)
|
rs104894260
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.130G>A (p.Val44Met)
|
|
|
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)
|
rs1555164188
|
|
NM_001370259.2(MEN1):c.1311C>T (p.Ala437=)
|
|
|
NM_001370259.2(MEN1):c.1311del (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1312A>G (p.Thr438Ala)
|
|
|
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser)
|
|
|
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.1317_1320del (p.Phe439fs)
|
rs1941607846
|
|
NM_001370259.2(MEN1):c.1321G>A (p.Val441Met)
|
|
|
NM_001370259.2(MEN1):c.1323G>A (p.Val441=)
|
rs1941607604
|
|
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)
|
rs794728654
|
|
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)
|
rs1060499981
|
|
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.1330C>G (p.Leu444Val)
|
rs2136100021
|
|
NM_001370259.2(MEN1):c.1332A>G (p.Leu444=)
|
|
|
NM_001370259.2(MEN1):c.1333G>A (p.Gly445Ser)
|
|
|
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys)
|
rs1555164153
|
|
NM_001370259.2(MEN1):c.1334del (p.Gly445fs)
|
rs1565640081
|
|
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys)
|
rs1592636375
|
|
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His)
|
rs1555164143
|
|
NM_001370259.2(MEN1):c.1337dup (p.Phe447_Glu448insTer)
|
|
|
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)
|
rs1114167491
|
|
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)
|
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=)
|
rs1325598637
|
|
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu)
|
rs1325598637
|
|
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=)
|
rs371339952
|
|
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp)
|
rs371339952
|
|
NM_001370259.2(MEN1):c.1345_1346insTGTC (p.Gly449fs)
|
|
|
NM_001370259.2(MEN1):c.1346del (p.Gly449fs)
|
rs1941603016
|
|
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)
|
rs1592660101
|
|
NM_001370259.2(MEN1):c.1350+16A>C
|
|
|
NM_001370259.2(MEN1):c.1350+18A>G
|
rs1190733461
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1_1350+11del
|
rs764570645
|
|
NM_001370259.2(MEN1):c.1350+2T>C
|
rs1555164115
|
|
NM_001370259.2(MEN1):c.1350+3G>A
|
|
|
NM_001370259.2(MEN1):c.1350+3_1350+22del
|
|
|
NM_001370259.2(MEN1):c.1350+4_1350+6del
|
rs1565639798
|
|
NM_001370259.2(MEN1):c.1350+5G>A
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350+5G>T
|
rs1565639811
|
|
NM_001370259.2(MEN1):c.1350+7G>A
|
rs2136099113
|
|
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
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.1351-1G>A
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>C
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>T
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-24_1351-14del
|
rs753219137
|
|
NM_001370259.2(MEN1):c.1351-2A>C
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2A>G
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2_*132del
|
rs1565634591
|
|
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3]
|
rs753219137
|
|
NM_001370259.2(MEN1):c.1351-3_1359del
|
rs2136094253
|
|
NM_001370259.2(MEN1):c.1351-4_1352del
|
|
|
NM_001370259.2(MEN1):c.1351-6G>A
|
rs1555164004
|
|
NM_001370259.2(MEN1):c.1351-7G>A
|
rs1941572921
|
|
NM_001370259.2(MEN1):c.1351-8T>C
|
rs751932519
|
|
NM_001370259.2(MEN1):c.1351-8T>G
|
rs751932519
|
|
NM_001370259.2(MEN1):c.1351-9C>G
|
rs1592634740
|
|
NM_001370259.2(MEN1):c.1353G>A (p.Val451=)
|
|
|
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=)
|
|
|
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
|
|
|
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)
|
rs775922507
|
|
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=)
|
rs1180957953
|
|
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs)
|
rs2136094331
|
|
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
|
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met)
|
rs1941570102
|
|
NM_001370259.2(MEN1):c.1363dup (p.Val455fs)
|
|
|
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)
|
rs878855189
|
|
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
|
|
|
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
|
|
|
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)
|
rs372468697
|
|
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu)
|
|
|
NM_001370259.2(MEN1):c.1369A>G (p.Ile457Val)
|
|
|
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu)
|
rs1021589871
|
|
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg)
|
rs1277747983
|
|
NM_001370259.2(MEN1):c.1373T>C (p.Val458Ala)
|
|
|
NM_001370259.2(MEN1):c.1374G>A (p.Val458=)
|
rs771297499
|
|
NM_001370259.2(MEN1):c.1374G>C (p.Val458=)
|
rs771297499
|
|
NM_001370259.2(MEN1):c.1375A>T (p.Ser459Cys)
|
|
|
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)
|
rs1555163883
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
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.1378C>G (p.Arg460Gly)
|
|
|
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)
|
rs200035619
|
|
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)
|
rs2136192730
|
|
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
|
|
|
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=)
|
rs2136093385
|
|
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln)
|
rs1941566282
|
|
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)
|
rs1114167531
|
|
NM_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
|
|
|
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)
|
rs1555163780
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])
|
rs772978541
|
|
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro)
|
rs1941565557
|
|
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=)
|
rs771827808
|
|
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=)
|
rs771827808
|
|
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)
|
rs748102589
|
|
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp)
|
rs1555163863
|
|
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro)
|
rs2136092866
|
|
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu)
|
|
|
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup)
|
rs1555163821
|
|
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup)
|
rs1592633626
|
|
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)
|
rs2136092746
|
|
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=)
|
rs754445482
|
|
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del)
|
rs1064792907
|
|
NM_001370259.2(MEN1):c.1393del (p.Ala465fs)
|
rs2136092552
|
|
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3])
|
rs1592633710
|
|
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=)
|
rs748820252
|
|
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys)
|
rs1114167497
|
|
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln)
|
|
|
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=)
|
rs990566024
|
|
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp)
|
rs990566024
|
|
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)
|
|
|
NM_001370259.2(MEN1):c.1400C>T (p.Ala467Val)
|
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)
|
rs1471493357
|
|
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)
|
rs2136091899
|
|
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys)
|
|
|
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln)
|
rs1182898331
|
|
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala)
|
rs1565638407
|
|
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)
|
rs1114167536
|
|
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del)
|
rs1033303123
|
|
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala)
|
rs1941557896
|
|
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=)
|
rs1060503795
|
|
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1415G>T (p.Gly472Val)
|
|
|
NM_001370259.2(MEN1):c.1415del (p.Gly472fs)
|
|
|
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=)
|
rs2136091112
|
|
NM_001370259.2(MEN1):c.1420del (p.Glu474fs)
|
rs1592633378
|
|
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly)
|
rs2136090940
|
|
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly)
|
|
|
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del)
|
rs1290740194
|
|
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp)
|
rs1941554063
|
|
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)
|
rs753185026
|
|
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=)
|
rs1555163730
|
|
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=)
|
rs1555163730
|
|
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.142C>T (p.Leu48=)
|
rs2136192593
|
|
NM_001370259.2(MEN1):c.142del (p.Leu48fs)
|
rs1555166681
|
|
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp)
|
rs863224811
|
|
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser)
|
rs1941551993
|
|
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=)
|
rs200280309
|
|
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp)
|
rs1941551498
|
|
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs)
|
rs2136089949
|
|
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro)
|
rs1555163716
|
|
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=)
|
rs1354865958
|
|
NM_001370259.2(MEN1):c.1437del (p.Arg480fs)
|
rs1941550964
|
|
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp)
|
rs1301120298
|
|
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln)
|
rs1450318836
|
|
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)
|
rs1592660057
|
|
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=)
|
rs864622641
|
|
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser)
|
rs2136089783
|
|
NM_001370259.2(MEN1):c.1445G>A (p.Gly482Asp)
|
|
|
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu)
|
rs1941548759
|
|
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
|
|
|
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
|
|
|
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly)
|
|
|
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp)
|
rs1941548479
|
|
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln)
|
|
|
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=)
|
rs1254459338
|
|
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp)
|
rs1254459338
|
|
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln)
|
rs2136089297
|
|
NM_001370259.2(MEN1):c.1456G>A (p.Glu486Lys)
|
|
|
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)
|
rs2136089217
|
|
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp)
|
rs1413990417
|
|
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro)
|
rs1057427859
|
|
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr)
|
rs1942011819
|
|
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser)
|
|
|
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe)
|
rs1941546652
|
|
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln)
|
rs1941546101
|
|
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg)
|
rs1941545858
|
|
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=)
|
|
|
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr)
|
rs587778440
|
|
NM_001370259.2(MEN1):c.1466C>T (p.Pro489Leu)
|
|
|
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=)
|
rs1592632826
|
|
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val)
|
rs1555166674
|
|
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
|
|
|
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=)
|
rs1555163642
|
|
NM_001370259.2(MEN1):c.1473del (p.Glu491fs)
|
rs1555163646
|
|
NM_001370259.2(MEN1):c.1474C>T (p.Pro492Ser)
|
|
|
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu)
|
rs1025851127
|
|
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.1477C>T (p.Pro493Ser)
|
rs1941543089
|
|
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
|
|
|
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=)
|
rs546721780
|
|
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser)
|
|
|
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=)
|
rs2136087952
|
|
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg)
|
rs1270463727
|
|
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu)
|
rs1942011354
|
|
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg)
|
rs1941540571
|
|
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=)
|
rs2136087753
|
|
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=)
|
rs1037335560
|
|
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr)
|
rs761517398
|
|
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=)
|
rs2136087489
|
|
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg)
|
rs1941538934
|
|
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly)
|
rs2136196896
|
|
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=)
|
|
|
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=)
|
|
|
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu)
|
rs2136087305
|
|
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=)
|
rs2136087305
|
|
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)
|
rs1555163591
|
|
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys)
|
rs2136087052
|
|
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
|
|
|
NM_001370259.2(MEN1):c.150C>T (p.Val50=)
|
rs2136192168
|
|
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val)
|
rs1390530663
|
|
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val)
|
rs1320934898
|
|
NM_001370259.2(MEN1):c.1515C>A (p.Gly505=)
|
|
|
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=)
|
rs2136086851
|
|
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile)
|
rs1347992299
|
|
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=)
|
rs749265222
|
|
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys)
|
rs1423874145
|
|
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=)
|
rs1407833502
|
|
NM_001370259.2(MEN1):c.1521C>T (p.Gly507=)
|
|
|
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser)
|
rs1941533809
|
|
NM_001370259.2(MEN1):c.1525G>T (p.Gly509Cys)
|
|
|
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val)
|
rs769355346
|
|
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val)
|
rs1356056436
|
|
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser)
|
rs1942010838
|
|
NM_001370259.2(MEN1):c.152dup (p.Asn51fs)
|
rs869312167
|
|
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=)
|
rs1941532417
|
|
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs)
|
rs1941529928
|
|
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs)
|
rs1941531859
|
|
NM_001370259.2(MEN1):c.1533G>A (p.Val511=)
|
|
|
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)
|
rs794728659
|
|
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)
|
rs141679530
|
|
NM_001370259.2(MEN1):c.1536A>C (p.Ser512=)
|
|
|
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=)
|
rs2136085950
|
|
NM_001370259.2(MEN1):c.1537G>C (p.Gly513Arg)
|
|
|
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)
|
rs1592631908
|
|
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys)
|
|
|
NM_001370259.2(MEN1):c.153C>T (p.Asn51=)
|
rs1555166669
|
|
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser)
|
rs150202288
|
|
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=)
|
rs1592631827
|
|
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser)
|
rs779466487
|
|
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg)
|
rs1941528728
|
|
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=)
|
rs1555163491
|
|
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)
|
rs763160290
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln)
|
rs1565637104
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)
|
rs794728630
|
|
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser)
|
|
|
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=)
|
rs2136084986
|
|
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=)
|
|
|
NM_001370259.2(MEN1):c.1555C>T (p.Pro519Ser)
|
|
|
NM_001370259.2(MEN1):c.1556C>T (p.Pro519Leu)
|
|
|
NM_001370259.2(MEN1):c.1556del (p.Pro519fs)
|
rs2136084930
|
|
NM_001370259.2(MEN1):c.155G>A (p.Arg52His)
|
rs1942010221
|
|
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=)
|
rs969035156
|
|
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser)
|
rs1565636917
|
|
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile)
|
rs1565636898
|
|
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala)
|
rs1592631462
|
|
NM_001370259.2(MEN1):c.1566C>T (p.Val522=)
|
|
|
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)
|
rs760683615
|
|
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=)
|
rs1592631415
|
|
NM_001370259.2(MEN1):c.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.1570G>A (p.Gly524Ser)
|
|
|
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)
|
rs1114167514
|
|
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr)
|
rs1295193195
|
|
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val)
|
|
|
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)
|
rs767655504
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu)
|
rs2136191735
|
|
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp)
|
rs1555163392
|
|
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=)
|
rs1592631208
|
|
NM_001370259.2(MEN1):c.1584C>T (p.Gly528=)
|
|
|
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln)
|
rs762145604
|
|
NM_001370259.2(MEN1):c.1590del (p.Gly531fs)
|
rs886039421
|
|
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser)
|
rs1592631128
|
|
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp)
|
rs1941517219
|
|
NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)
|
|
|
NM_001370259.2(MEN1):c.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.1601C>T (p.Thr534Met)
|
rs1192690654
|
|
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>A (p.Val537Met)
|
rs1057521847
|
|
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu)
|
rs1057521847
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.160del (p.Ile54fs)
|
|
|
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val)
|
|
|
NM_001370259.2(MEN1):c.1617A>T (p.Ala539=)
|
|
|
NM_001370259.2(MEN1):c.1618C>A (p.Pro540Thr)
|
|
|
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg)
|
rs780844361
|
|
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.1621A>C (p.Thr541Pro)
|
rs2959656
|
|
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu)
|
rs1941511781
|
|
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val)
|
rs1941511257
|
|
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=)
|
rs2136082421
|
|
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu)
|
rs1592630661
|
|
NM_001370259.2(MEN1):c.162C>G (p.Ile54Met)
|
|
|
NM_001370259.2(MEN1):c.162C>T (p.Ile54=)
|
rs1555166662
|
|
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del)
|
|
|
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)
|
rs1387157979
|
|
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
|
|
|
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup)
|
rs774350463
|
|
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu)
|
rs1592630610
|
|
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser)
|
rs2136082158
|
|
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)
|
rs779413959
|
|
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys)
|
rs1941508162
|
|
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser)
|
|
|
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala)
|
rs914488914
|
|
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=)
|
rs1555163295
|
|
NM_001370259.2(MEN1):c.1642G>T (p.Gly548Cys)
|
|
|
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)
|
|
|
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu)
|
|
|
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=)
|
rs2136081746
|
|
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly)
|
rs1941506496
|
|
NM_001370259.2(MEN1):c.164C>T (p.Pro55Leu)
|
|
|
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe)
|
rs990141724
|
|
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=)
|
rs1592630324
|
|
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs)
|
rs2136081238
|
|
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr)
|
|
|
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.1660C>T (p.Gln554Ter)
|
rs794728631
|
|
NM_001370259.2(MEN1):c.1660del (p.Gln554fs)
|
rs2136081113
|
|
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=)
|
rs2136080910
|
|
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met)
|
|
|
NM_001370259.2(MEN1):c.1670del (p.Lys557fs)
|
rs1592630079
|
|
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs)
|
rs1941501683
|
|
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
|
|
|
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile)
|
|
|
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)
|
rs1565635941
|
|
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=)
|
rs2136080688
|
|
NM_001370259.2(MEN1):c.167C>T (p.Thr56Ile)
|
|
|
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)
|
rs1941501393
|
|
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.168del (p.Asn57fs)
|
rs1060499990
|
|
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro)
|
rs2136080204
|
|
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=)
|
rs1251646520
|
|
NM_001370259.2(MEN1):c.1697T>C (p.Val566Ala)
|
|
|
NM_001370259.2(MEN1):c.1698G>A (p.Val566=)
|
rs2136080002
|
|
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)
|
rs1555163185
|
|
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)
|
rs966793401
|
|
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)
|
rs1114167523
|
|
NM_001370259.2(MEN1):c.1702A>G (p.Thr568Ala)
|
|
|
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser)
|
rs751839903
|
|
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu)
|
|
|
NM_001370259.2(MEN1):c.1705_1706del (p.Lys569fs)
|
|
|
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=)
|
rs1347492310
|
|
NM_001370259.2(MEN1):c.1716G>A (p.Ser572=)
|
|
|
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn)
|
rs1257993399
|
|
NM_001370259.2(MEN1):c.1719C>T (p.Ser573=)
|
|
|
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys)
|
rs1171829753
|
|
NM_001370259.2(MEN1):c.171C>T (p.Asn57=)
|
rs1171829753
|
|
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_001370259.2(MEN1):c.1724T>C (p.Ile575Thr)
|
|
|
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met)
|
rs1941495298
|
|
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr)
|
rs1941495030
|
|
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=)
|
rs762744342
|
|
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)
|
rs794728634
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)
|
rs1328296968
|
|
NM_001370259.2(MEN1):c.1738_1739insAA (p.Thr580fs)
|
|
|
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met)
|
rs1941492703
|
|
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)
|
rs864622617
|
|
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=)
|
rs765105348
|
|
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly)
|
rs1592629417
|
|
NM_001370259.2(MEN1):c.1755G>A (p.Val585=)
|
rs2136078442
|
|
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
|
|
|
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser)
|
rs1352823623
|
|
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile)
|
rs1555163058
|
|
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del)
|
rs1303070443
|
|
NM_001370259.2(MEN1):c.1766A>T (p.Lys589Met)
|
|
|
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg)
|
rs768445858
|
|
NM_001370259.2(MEN1):c.1770G>A (p.Gln590=)
|
|
|
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His)
|
rs1470506250
|
|
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala)
|
rs1941489030
|
|
NM_001370259.2(MEN1):c.177C>T (p.Pro59=)
|
rs749001511
|
|
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)
|
|
|
NM_001370259.2(MEN1):c.1782C>T (p.Thr594=)
|
|
|
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser)
|
rs2136077722
|
|
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg)
|
rs2136077699
|
|
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr)
|
rs2136077666
|
|
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys)
|
rs1174208039
|
|
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)
|
|
|
NM_001370259.2(MEN1):c.1792T>C (p.Tyr598His)
|
|
|
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)
|
rs2136077605
|
|
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala)
|
rs1941487702
|
|
NM_001370259.2(MEN1):c.1795A>T (p.Thr599Ser)
|
|
|
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.1798_1799del (p.Leu600fs)
|
rs1555163017
|
|
NM_001370259.2(MEN1):c.1798_1803del (p.Leu600_Ser601del)
|
|
|
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly)
|
rs1942007547
|
|
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val)
|
|
|
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)
|
|
|
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)
|
|
|
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)
|
|
|
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro)
|
rs1941486843
|
|
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)
|
|
|
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs)
|
rs1941486297
|
|
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=)
|
rs1060503794
|
|
NM_001370259.2(MEN1):c.180G>A (p.Glu60=)
|
rs2136190736
|
|
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)
|
|
|
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly)
|
rs2136077141
|
|
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu)
|
rs1555163002
|
|
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)
|
|
|
NM_001370259.2(MEN1):c.1819C>A (p.Arg607Ser)
|
|
|
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys)
|
rs770686655
|
|
NM_001370259.2(MEN1):c.181C>T (p.Leu61Phe)
|
|
|
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=)
|
rs2136076868
|
|
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu)
|
rs2136076826
|
|
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val)
|
rs1186858249
|
|
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe)
|
rs1941484511
|
|
NM_001370259.2(MEN1):c.1830C>G (p.Leu610=)
|
|
|
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
|
|
|
NM_001370259.2(MEN1):c.183C>A (p.Leu61=)
|
rs1555166622
|
|
NM_001370259.2(MEN1):c.183C>T (p.Leu61=)
|
|
|
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro)
|
rs1555166619
|
|
NM_001370259.2(MEN1):c.189C>T (p.Phe63=)
|
rs137880635
|
|
NM_001370259.2(MEN1):c.190C>A (p.Gln64Lys)
|
|
|
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)
|
|
|
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr)
|
rs1235900915
|
|
NM_001370259.2(MEN1):c.194C>A (p.Pro65His)
|
rs1114167484
|
|
NM_001370259.2(MEN1):c.195C>A (p.Pro65=)
|
rs1438097332
|
|
NM_001370259.2(MEN1):c.195C>T (p.Pro65=)
|
rs1438097332
|
|
NM_001370259.2(MEN1):c.195del (p.Ser66fs)
|
|
|
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)
|
rs1942005110
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.197G>C (p.Ser66Thr)
|
|
|
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)
|
|
|
NM_001370259.2(MEN1):c.198C>T (p.Ser66=)
|
rs2136189969
|
|
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)
|
rs1942027113
|
|
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg)
|
rs757766498
|
|
NM_001370259.2(MEN1):c.201C>T (p.Pro67=)
|
rs1060503791
|
|
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr)
|
rs1343345477
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val)
|
rs1319371332
|
|
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.205C>T (p.Pro69Ser)
|
rs1060499995
|
|
NM_001370259.2(MEN1):c.207C>A (p.Pro69=)
|
rs2136189522
|
|
NM_001370259.2(MEN1):c.207del (p.Asp70fs)
|
rs1057517902
|
|
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.208_211del (p.Asp70fs)
|
|
|
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu)
|
rs150308912
|
|
NM_001370259.2(MEN1):c.210C>T (p.Asp70=)
|
|
|
NM_001370259.2(MEN1):c.211C>G (p.Pro71Ala)
|
|
|
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser)
|
rs1592659522
|
|
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)
|
rs386134251
|
|
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.215C>T (p.Pro72Leu)
|
rs878856863
|
|
NM_001370259.2(MEN1):c.216T>G (p.Pro72=)
|
rs1592659467
|
|
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)
|
|
|
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys)
|
|
|
NM_001370259.2(MEN1):c.219C>A (p.Gly73=)
|
|
|
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)
|
rs1422628649
|
|
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys)
|
rs2136188922
|
|
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.226A>T (p.Thr76Ser)
|
rs1592659343
|
|
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn)
|
rs886039752
|
|
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
|
|
|
NM_001370259.2(MEN1):c.228C>G (p.Thr76=)
|
rs1394017906
|
|
NM_001370259.2(MEN1):c.228C>T (p.Thr76=)
|
rs1394017906
|
|
NM_001370259.2(MEN1):c.229T>C (p.Tyr77His)
|
|
|
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu)
|
rs1942026565
|
|
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.233T>C (p.Phe78Ser)
|
|
|
NM_001370259.2(MEN1):c.234T>C (p.Phe78=)
|
rs2136188387
|
|
NM_001370259.2(MEN1):c.234del (p.Val80fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala)
|
|
|
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.237C>G (p.Pro79=)
|
rs1592659200
|
|
NM_001370259.2(MEN1):c.237C>T (p.Pro79=)
|
rs1592659200
|
|
NM_001370259.2(MEN1):c.237del (p.Val80fs)
|
rs1114167486
|
|
NM_001370259.2(MEN1):c.238G>A (p.Val80Met)
|
|
|
NM_001370259.2(MEN1):c.238del (p.Val80fs)
|
rs2136188216
|
|
NM_001370259.2(MEN1):c.240G>T (p.Val80=)
|
rs1555166545
|
|
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr)
|
rs2136188110
|
|
NM_001370259.2(MEN1):c.241del (p.Ala81fs)
|
|
|
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
|
|
|
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>C (p.Asp82His)
|
rs1419086083
|
|
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
|
|
|
NM_001370259.2(MEN1):c.246C>T (p.Asp82=)
|
rs1238113583
|
|
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu)
|
|
|
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln)
|
rs752747097
|
|
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs)
|
rs2136187161
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
|
|
|
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.252_253insTT (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.256A>G (p.Ile86Val)
|
|
|
NM_001370259.2(MEN1):c.259_260delinsTA (p.Ala87Tyr)
|
|
|
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)
|
|
|
NM_001370259.2(MEN1):c.262G>A (p.Ala88Thr)
|
|
|
NM_001370259.2(MEN1):c.263C>A (p.Ala88Asp)
|
|
|
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly)
|
|
|
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe)
|
|
|
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro)
|
rs2136187120
|
|
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del)
|
rs1064792906
|
|
NM_001370259.2(MEN1):c.267C>G (p.Leu89=)
|
rs1060499972
|
|
NM_001370259.2(MEN1):c.267C>T (p.Leu89=)
|
|
|
NM_001370259.2(MEN1):c.269A>C (p.Tyr90Ser)
|
|
|
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys)
|
rs1565651873
|
|
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs)
|
rs1941994887
|
|
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter)
|
rs2136187018
|
|
NM_001370259.2(MEN1):c.26C>T (p.Thr9Met)
|
|
|
NM_001370259.2(MEN1):c.270T>C (p.Tyr90=)
|
|
|
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser)
|
rs2136186838
|
|
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys)
|
rs1488275961
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.27G>A (p.Thr9=)
|
rs1190267704
|
|
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)
|
rs1555166494
|
|
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)
|
rs1565651820
|
|
NM_001370259.2(MEN1):c.282C>T (p.Thr94=)
|
rs760442763
|
|
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)
|
|
|
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser)
|
rs1592658740
|
|
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)
|
|
|
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.292C>T (p.Arg98Ter)
|
rs886039413
|
|
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln)
|
rs1592658694
|
|
NM_001370259.2(MEN1):c.294A>T (p.Arg98=)
|
rs2136185660
|
|
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala)
|
rs1941992512
|
|
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
|
|
|
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser)
|
rs1592658683
|
|
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)
|
|
|
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg)
|
rs1942026011
|
|
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)
|
|
|
NM_001370259.2(MEN1):c.300C>T (p.Ala100=)
|
rs773136972
|
|
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile)
|
rs1242887389
|
|
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala)
|
rs771936005
|
|
NM_001370259.2(MEN1):c.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.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln)
|
|
|
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg)
|
rs2136184835
|
|
NM_001370259.2(MEN1):c.30G>C (p.Leu10=)
|
|
|
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe)
|
rs1114167512
|
|
NM_001370259.2(MEN1):c.312C>T (p.Ser104=)
|
rs1592658525
|
|
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.313dup (p.Leu105fs)
|
rs2136184555
|
|
NM_001370259.2(MEN1):c.316T>C (p.Tyr106His)
|
|
|
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys)
|
rs1555166469
|
|
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)
|
rs1555166466
|
|
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)
|
rs1060499987
|
|
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser)
|
rs1358503577
|
|
NM_001370259.2(MEN1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.321T>C (p.Pro107=)
|
rs2136184097
|
|
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)
|
rs794728647
|
|
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)
|
rs1565651568
|
|
NM_001370259.2(MEN1):c.323del (p.Arg108fs)
|
rs878855191
|
|
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly)
|
rs1555166447
|
|
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp)
|
rs773976527
|
|
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)
|
rs1389398299
|
|
NM_001370259.2(MEN1):c.330G>C (p.Gly110=)
|
rs1060503792
|
|
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg)
|
rs1941987221
|
|
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)
|
|
|
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val)
|
rs2136183365
|
|
NM_001370259.2(MEN1):c.332del (p.Gly111fs)
|
|
|
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.338C>T (p.Ser113Phe)
|
rs1941986326
|
|
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)
|
|
|
NM_001370259.2(MEN1):c.33C>T (p.Phe11=)
|
|
|
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg)
|
rs2136182944
|
|
NM_001370259.2(MEN1):c.340A>G (p.Ser114Gly)
|
|
|
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)
|
rs886041213
|
|
NM_001370259.2(MEN1):c.342C>T (p.Ser114=)
|
rs2136182809
|
|
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly)
|
rs1565651402
|
|
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
|
|
|
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)
|
rs1060499992
|
|
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln)
|
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
|
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.356A>G (p.Lys119Arg)
|
|
|
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)
|
rs878855192
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)
|
rs794728614
|
|
NM_001370259.2(MEN1):c.35dup (p.Leu13fs)
|
|
|
NM_001370259.2(MEN1):c.360G>A (p.Lys120=)
|
rs1477714779
|
|
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe)
|
rs863224812
|
|
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro)
|
rs1941983276
|
|
NM_001370259.2(MEN1):c.366C>T (p.Ser122=)
|
rs1592658043
|
|
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn)
|
rs1941982745
|
|
NM_001370259.2(MEN1):c.367del (p.Asp123fs)
|
rs1941982919
|
|
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.373A>T (p.Ile125Leu)
|
rs1941982271
|
|
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr)
|
rs1941982084
|
|
NM_001370259.2(MEN1):c.374dup (p.Trp126fs)
|
|
|
NM_001370259.2(MEN1):c.375A>C (p.Ile125=)
|
rs184896922
|
|
NM_001370259.2(MEN1):c.375_376del (p.Ile125fs)
|
|
|
NM_001370259.2(MEN1):c.376T>C (p.Trp126Arg)
|
rs1592657993
|
|
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)
|
rs2136181049
|
|
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)
|
rs1555166365
|
|
NM_001370259.2(MEN1):c.378G>T (p.Trp126Cys)
|
|
|
NM_001370259.2(MEN1):c.378_389del (p.Trp126_Ser130delinsCys)
|
|
|
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser)
|
rs2136180841
|
|
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys)
|
rs1941981145
|
|
NM_001370259.2(MEN1):c.386del (p.Leu129fs)
|
rs1565651223
|
|
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys)
|
rs2136180487
|
|
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg)
|
rs1262285748
|
|
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys)
|
rs2136180282
|
|
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys)
|
rs1555166357
|
|
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=)
|
rs1592657892
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln)
|
rs121913034
|
|
NM_001370259.2(MEN1):c.406G>C (p.Asp136His)
|
rs1941979334
|
|
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
|
rs1592657785
|
|
NM_001370259.2(MEN1):c.407_414del (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.409C>A (p.Arg137=)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.409C>G (p.Arg137Gly)
|
|
|
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys)
|
rs1209178117
|
|
NM_001370259.2(MEN1):c.411G>C (p.Arg137=)
|
rs371437505
|
|
NM_001370259.2(MEN1):c.411G>T (p.Arg137=)
|
rs371437505
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
|
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.416del (p.His139fs)
|
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.417C>T (p.His139=)
|
|
|
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val)
|
|
|
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)
|
rs376510601
|
|
NM_001370259.2(MEN1):c.418dup (p.Ile140fs)
|
|
|
NM_001370259.2(MEN1):c.41G>C (p.Arg14Pro)
|
|
|
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)
|
|
|
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
|
|
|
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)
|
rs886039553
|
|
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg)
|
rs758846538
|
|
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)
|
|
|
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe)
|
rs1941976986
|
|
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val)
|
|
|
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro)
|
rs2136178143
|
|
NM_001370259.2(MEN1):c.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.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.431T>C (p.Phe144Ser)
|
|
|
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu)
|
rs2136177828
|
|
NM_001370259.2(MEN1):c.432del (p.Phe144fs)
|
rs1064793613
|
|
NM_001370259.2(MEN1):c.433A>C (p.Ser145Arg)
|
rs778932605
|
|
NM_001370259.2(MEN1):c.434G>A (p.Ser145Asn)
|
|
|
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr)
|
|
|
NM_001370259.2(MEN1):c.439A>G (p.Ile147Val)
|
|
|
NM_001370259.2(MEN1):c.441C>T (p.Ile147=)
|
rs878855193
|
|
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala)
|
rs1114167537
|
|
NM_001370259.2(MEN1):c.442del (p.Thr148fs)
|
rs1941975256
|
|
NM_001370259.2(MEN1):c.445+10C>T
|
rs754044830
|
|
NM_001370259.2(MEN1):c.445+1G>A
|
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
NM_001370259.2(MEN1):c.445+3T>C
|
rs2136177528
|
|
NM_001370259.2(MEN1):c.445+4G>A
|
rs1941974933
|
|
NM_001370259.2(MEN1):c.445+5G>A
|
rs1941974766
|
|
NM_001370259.2(MEN1):c.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.446-1G>A
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-1G>C
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-2A>G
|
rs886042035
|
|
NM_001370259.2(MEN1):c.446-3C>G
|
|
|
NM_001370259.2(MEN1):c.446-3C>T
|
rs377461506
|
|
NM_001370259.2(MEN1):c.446-5C>A
|
|
|
NM_001370259.2(MEN1):c.446-6C>A
|
rs1941875791
|
|
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.446G>T (p.Gly149Val)
|
rs1444210255
|
|
NM_001370259.2(MEN1):c.447C>T (p.Gly149=)
|
|
|
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
|
|
|
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu)
|
rs2136159555
|
|
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg)
|
rs2136159495
|
|
NM_001370259.2(MEN1):c.454T>C (p.Leu152=)
|
|
|
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.459C>T (p.Asp153=)
|
|
|
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
|
|
|
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile)
|
rs1941873896
|
|
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe)
|
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)
|
rs794728648
|
|
NM_001370259.2(MEN1):c.469G>A (p.Val157Met)
|
rs1555165872
|
|
NM_001370259.2(MEN1):c.46A>T (p.Ile16Phe)
|
|
|
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr)
|
rs1421808873
|
|
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)
|
rs794728617
|
|
NM_001370259.2(MEN1):c.474del (p.Phe159fs)
|
rs2136158237
|
|
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu)
|
rs1941871397
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.47T>C (p.Ile16Thr)
|
|
|
NM_001370259.2(MEN1):c.480T>C (p.Ala160=)
|
rs2136157794
|
|
NM_001370259.2(MEN1):c.481G>A (p.Val161Met)
|
rs1268563474
|
|
NM_001370259.2(MEN1):c.483G>A (p.Val161=)
|
|
|
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile)
|
rs2136157511
|
|
NM_001370259.2(MEN1):c.489G>A (p.Gly163=)
|
rs2136157212
|
|
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser)
|
rs1311408888
|
|
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)
|
rs1565648547
|
|
NM_001370259.2(MEN1):c.492del (p.Cys165fs)
|
|
|
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)
|
rs1057521111
|
|
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)
|
rs1592651767
|
|
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu)
|
rs1565648511
|
|
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro)
|
|
|
NM_001370259.2(MEN1):c.498G>A (p.Gln166=)
|
|
|
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
|
|
|
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr)
|
|
|
NM_001370259.2(MEN1):c.4G>A (p.Gly2Arg)
|
|
|
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val)
|
rs1555165846
|
|
NM_001370259.2(MEN1):c.502C>T (p.Leu168=)
|
rs1555165846
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.504G>A (p.Leu168=)
|
rs1941867763
|
|
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg)
|
rs71526465
|
|
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs)
|
rs2136156268
|
|
NM_001370259.2(MEN1):c.507T>G (p.Gly169=)
|
|
|
NM_001370259.2(MEN1):c.508C>G (p.Leu170Val)
|
|
|
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro)
|
rs1941866849
|
|
NM_001370259.2(MEN1):c.510C>T (p.Leu170=)
|
|
|
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly)
|
rs143329068
|
|
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro)
|
rs607969
|
|
NM_001370259.2(MEN1):c.514G>C (p.Asp172His)
|
rs1114167494
|
|
NM_001370259.2(MEN1):c.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.520C>T (p.His174Tyr)
|
|
|
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs)
|
rs1941864588
|
|
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
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.529C>G (p.Leu177Val)
|
rs865919253
|
|
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr)
|
rs2136195598
|
|
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)
|
rs2136154828
|
|
NM_001370259.2(MEN1):c.531G>C (p.Leu177=)
|
|
|
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter)
|
rs2136154587
|
|
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)
|
rs1555165811
|
|
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr)
|
rs1555165809
|
|
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr)
|
rs2136154322
|
|
NM_001370259.2(MEN1):c.540T>A (p.Asp180Glu)
|
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro)
|
|
|
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)
|
rs794728650
|
|
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)
|
|
|
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)
|
rs2136153753
|
|
NM_001370259.2(MEN1):c.54C>A (p.Asp18Glu)
|
|
|
NM_001370259.2(MEN1):c.54C>T (p.Asp18=)
|
rs1316973259
|
|
NM_001370259.2(MEN1):c.550G>A (p.Val184Ile)
|
|
|
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu)
|
rs1265797059
|
|
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala)
|
rs764847812
|
|
NM_001370259.2(MEN1):c.555G>T (p.Val185=)
|
rs1178007625
|
|
NM_001370259.2(MEN1):c.556T>C (p.Phe186Leu)
|
|
|
NM_001370259.2(MEN1):c.55G>C (p.Val19Leu)
|
|
|
NM_001370259.2(MEN1):c.560G>C (p.Gly187Ala)
|
|
|
NM_001370259.2(MEN1):c.561G>A (p.Gly187=)
|
|
|
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)
|
rs1555165756
|
|
NM_001370259.2(MEN1):c.564del (p.Asn189fs)
|
|
|
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys)
|
rs1212919060
|
|
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu)
|
rs878855195
|
|
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp)
|
rs1592651018
|
|
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)
|
|
|
NM_001370259.2(MEN1):c.576G>C (p.Gln192His)
|
|
|
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile)
|
rs1592650971
|
|
NM_001370259.2(MEN1):c.578dup (p.Ala194fs)
|
|
|
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
|
|
|
NM_001370259.2(MEN1):c.57G>A (p.Val19=)
|
rs759282395
|
|
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly)
|
rs2136152165
|
|
NM_001370259.2(MEN1):c.582T>A (p.Ala194=)
|
rs1592650942
|
|
NM_001370259.2(MEN1):c.582T>G (p.Ala194=)
|
rs1592650942
|
|
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)
|
|
|
NM_001370259.2(MEN1):c.585G>A (p.Glu195=)
|
rs864622177
|
|
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile)
|
rs2136151708
|
|
NM_001370259.2(MEN1):c.588C>T (p.Val196=)
|
rs1592650906
|
|
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu)
|
rs1942022491
|
|
NM_001370259.2(MEN1):c.590C>A (p.Thr197Asn)
|
|
|
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile)
|
rs1592650893
|
|
NM_001370259.2(MEN1):c.591C>G (p.Thr197=)
|
rs527294715
|
|
NM_001370259.2(MEN1):c.591C>T (p.Thr197=)
|
rs527294715
|
|
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)
|
rs104894258
|
|
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)
|
rs104894257
|
|
NM_001370259.2(MEN1):c.597C>A (p.His199Gln)
|
rs150512958
|
|
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser)
|
rs1592650813
|
|
NM_001370259.2(MEN1):c.59T>G (p.Val20Gly)
|
|
|
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu)
|
rs1592661296
|
|
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu)
|
|
|
NM_001370259.2(MEN1):c.603G>A (p.Lys201=)
|
|
|
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp)
|
rs1941854779
|
|
NM_001370259.2(MEN1):c.606C>A (p.Gly202=)
|
|
|
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys)
|
rs749844029
|
|
NM_001370259.2(MEN1):c.60G>A (p.Val20=)
|
|
|
NM_001370259.2(MEN1):c.60G>C (p.Val20=)
|
rs776432516
|
|
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp)
|
|
|
NM_001370259.2(MEN1):c.615C>T (p.Asp205=)
|
rs1941854403
|
|
NM_001370259.2(MEN1):c.617G>A (p.Arg206His)
|
rs1565647825
|
|
NM_001370259.2(MEN1):c.617G>C (p.Arg206Pro)
|
|
|
NM_001370259.2(MEN1):c.617G>T (p.Arg206Leu)
|
|
|
NM_001370259.2(MEN1):c.618C>T (p.Arg206=)
|
rs1555165717
|
|
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly)
|
rs1941853632
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys)
|
rs541476418
|
|
NM_001370259.2(MEN1):c.623_1050-143del
|
|
|
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)
|
rs1565647767
|
|
NM_001370259.2(MEN1):c.627G>A (p.Gln209=)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.627G>C (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.627G>T (p.Gln209His)
|
rs1565647751
|
|
NM_001370259.2(MEN1):c.628A>C (p.Thr210Pro)
|
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg)
|
rs756287855
|
|
NM_001370259.2(MEN1):c.630A>C (p.Thr210=)
|
rs1592650685
|
|
NM_001370259.2(MEN1):c.630A>G (p.Thr210=)
|
|
|
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly)
|
rs1565647698
|
|
NM_001370259.2(MEN1):c.633del (p.Asn212fs)
|
rs878855196
|
|
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp)
|
rs1060499980
|
|
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr)
|
|
|
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)
|
rs1114167518
|
|
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)
|
rs746067825
|
|
NM_001370259.2(MEN1):c.639del (p.Gly214fs)
|
rs1941850919
|
|
NM_001370259.2(MEN1):c.63C>T (p.Arg21=)
|
rs1018289242
|
|
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys)
|
rs781493730
|
|
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala)
|
rs2136148915
|
|
NM_001370259.2(MEN1):c.641G>T (p.Gly214Val)
|
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)
|
rs386134257
|
|
NM_001370259.2(MEN1):c.645G>A (p.Val215=)
|
rs1347044526
|
|
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro)
|
rs1592650523
|
|
NM_001370259.2(MEN1):c.646del (p.Ala216fs)
|
rs2136148702
|
|
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val)
|
rs2136148590
|
|
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
|
|
|
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.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.654+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+18C>T
|
rs180737290
|
|
NM_001370259.2(MEN1):c.654+18del
|
rs112700230
|
|
NM_001370259.2(MEN1):c.654+18dup
|
rs112700230
|
|
NM_001370259.2(MEN1):c.654+1G>A
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+3A>G
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.654+4T>C
|
rs1941847622
|
|
NM_001370259.2(MEN1):c.654+6G>T
|
rs1941847253
|
|
NM_001370259.2(MEN1):c.654+9C>A
|
rs202134234
|
|
NM_001370259.2(MEN1):c.654+9C>G
|
rs202134234
|
|
NM_001370259.2(MEN1):c.654G>A (p.Arg218=)
|
|
|
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.655-15_658del
|
rs1592649598
|
|
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.655-1G>A
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-2A>G
|
|
|
NM_001370259.2(MEN1):c.655-5C>A
|
rs752563214
|
|
NM_001370259.2(MEN1):c.655-5C>T
|
rs752563214
|
|
NM_001370259.2(MEN1):c.655-5del
|
rs772016629
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6_655-4del
|
rs1555165623
|
|
NM_001370259.2(MEN1):c.655-7C>A
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7C>G
|
rs771297371
|
|
NM_001370259.2(MEN1):c.655-7C>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>A
|
rs2136144016
|
|
NM_001370259.2(MEN1):c.655-9C>T
|
|
|
NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)
|
|
|
NM_001370259.2(MEN1):c.657C>T (p.Ser219=)
|
rs2059889716
|
|
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)
|
rs1565647197
|
|
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)
|
rs2136143369
|
|
NM_001370259.2(MEN1):c.663G>C (p.Leu221=)
|
rs1466764986
|
|
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp)
|
rs1941830592
|
|
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser)
|
rs1555165601
|
|
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=)
|
rs1555165597
|
|
NM_001370259.2(MEN1):c.667C>T (p.Leu223=)
|
rs1592649487
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.669G>A (p.Leu223=)
|
rs2136143050
|
|
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
|
|
|
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala)
|
|
|
NM_001370259.2(MEN1):c.677C>T (p.Ser226Leu)
|
|
|
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)
|
rs778921501
|
|
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)
|
rs1060499982
|
|
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)
|
rs1114167519
|
|
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser)
|
rs754378887
|
|
NM_001370259.2(MEN1):c.685del (p.Arg229fs)
|
|
|
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.691G>C (p.Asp231His)
|
rs1941827572
|
|
NM_001370259.2(MEN1):c.692A>G (p.Asp231Gly)
|
|
|
NM_001370259.2(MEN1):c.693C>T (p.Asp231=)
|
|
|
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)
|
rs1225847249
|
|
NM_001370259.2(MEN1):c.695G>A (p.Arg232His)
|
rs1941826992
|
|
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln)
|
|
|
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)
|
rs1114167499
|
|
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr)
|
rs1592649270
|
|
NM_001370259.2(MEN1):c.698A>G (p.Lys233Arg)
|
|
|
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.6dup (p.Leu3fs)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.700A>G (p.Met234Val)
|
|
|
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu)
|
rs1296948476
|
|
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile)
|
rs1448041546
|
|
NM_001370259.2(MEN1):c.706G>A (p.Val236Met)
|
|
|
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu)
|
|
|
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr)
|
rs1441995061
|
|
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)
|
rs1328062930
|
|
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
|
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala)
|
rs1373521153
|
|
NM_001370259.2(MEN1):c.737C>A (p.Ser246Tyr)
|
|
|
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val)
|
rs1555165508
|
|
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)
|
rs1555165503
|
|
NM_001370259.2(MEN1):c.739dup (p.Ile247fs)
|
rs2136141104
|
|
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr)
|
rs1043531053
|
|
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.745C>A (p.Leu249Met)
|
rs2136140837
|
|
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln)
|
rs1824195184
|
|
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)
|
rs1592648830
|
|
NM_001370259.2(MEN1):c.750C>T (p.His250=)
|
|
|
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
|
|
|
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
|
|
|
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758del (p.Ser253fs)
|
rs1592648765
|
|
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.760C>A (p.Leu254Met)
|
|
|
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro)
|
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.766C>G (p.Leu256Val)
|
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
|
|
|
NM_001370259.2(MEN1):c.769C>T (p.Leu257=)
|
|
|
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)
|
rs28931612
|
|
NM_001370259.2(MEN1):c.770T>C (p.Leu257Pro)
|
|
|
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3])
|
rs1555165485
|
|
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg)
|
|
|
NM_001370259.2(MEN1):c.777G>A (p.Leu259=)
|
rs2136139885
|
|
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)
|
rs1057520733
|
|
NM_001370259.2(MEN1):c.783+10G>C
|
rs2136139524
|
|
NM_001370259.2(MEN1):c.783+16A>G
|
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>C
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+2del
|
|
|
NM_001370259.2(MEN1):c.783+3G>A
|
|
|
NM_001370259.2(MEN1):c.783+5G>T
|
rs1592648530
|
|
NM_001370259.2(MEN1):c.783+6G>C
|
|
|
NM_001370259.2(MEN1):c.783+8C>A
|
rs2136139552
|
|
NM_001370259.2(MEN1):c.784-10C>A
|
rs71526470
|
|
NM_001370259.2(MEN1):c.784-16C>G
|
rs754257177
|
|
NM_001370259.2(MEN1):c.784-17_784-14del
|
|
|
NM_001370259.2(MEN1):c.784-18C>G
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001370259.2(MEN1):c.784-1G>A
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-1G>C
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-2A>T
|
|
|
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>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.784-9G>C
|
rs794728625
|
|
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg)
|
rs1555165373
|
|
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
|
|
|
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)
|
rs1114167502
|
|
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)
|
rs1941794175
|
|
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.792del (p.Trp265fs)
|
|
|
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)
|
rs2136134076
|
|
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)
|
rs1592647398
|
|
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val)
|
rs1006536599
|
|
NM_001370259.2(MEN1):c.79C>T (p.Leu27=)
|
rs1006536599
|
|
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn)
|
rs878855199
|
|
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly)
|
rs1941793463
|
|
NM_001370259.2(MEN1):c.807C>T (p.Asp269=)
|
rs2136133470
|
|
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met)
|
rs371556177
|
|
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)
|
rs1592647333
|
|
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg)
|
rs1565645918
|
|
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg)
|
|
|
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala)
|
rs1941792670
|
|
NM_001370259.2(MEN1):c.815A>G (p.His272Arg)
|
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
|
|
|
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.820G>A (p.Glu274Lys)
|
rs1941791593
|
|
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)
|
rs1592647235
|
|
NM_001370259.2(MEN1):c.823del (p.Arg275fs)
|
rs1555165360
|
|
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+1G>T
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824+3C>G
|
rs1941790535
|
|
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.824G>A (p.Arg275Lys)
|
rs1187634059
|
|
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.825-1_825del
|
rs2136130282
|
|
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.825G>A (p.Arg275=)
|
|
|
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys)
|
rs1555165327
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal)
|
rs2136130018
|
|
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg)
|
rs953827589
|
|
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn)
|
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
|
|
|
NM_001370259.2(MEN1):c.831del (p.Met278fs)
|
rs2136129908
|
|
NM_001370259.2(MEN1):c.832A>G (p.Met278Val)
|
rs1475401656
|
|
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg)
|
rs1592646765
|
|
NM_001370259.2(MEN1):c.837C>T (p.Ala279=)
|
rs762092675
|
|
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)
|
|
|
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)
|
|
|
NM_001370259.2(MEN1):c.840A>T (p.Leu280Phe)
|
|
|
NM_001370259.2(MEN1):c.842G>A (p.Gly281Glu)
|
|
|
NM_001370259.2(MEN1):c.843G>A (p.Gly281=)
|
|
|
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser)
|
rs1592646672
|
|
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.851C>A (p.Ala284Glu)
|
rs1565645563
|
|
NM_001370259.2(MEN1):c.852A>G (p.Ala284=)
|
rs2136129359
|
|
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala)
|
rs2136129327
|
|
NM_001370259.2(MEN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)
|
rs2136129231
|
|
NM_001370259.2(MEN1):c.85C>A (p.Arg29=)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.861G>C (p.Glu287Asp)
|
|
|
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)
|
|
|
NM_001370259.2(MEN1):c.864G>A (p.Glu288=)
|
rs769748450
|
|
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln)
|
rs1335117435
|
|
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly)
|
|
|
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val)
|
rs1213891703
|
|
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
|
|
|
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala)
|
rs1413160325
|
|
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser)
|
|
|
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg)
|
rs745857419
|
|
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
|
|
|
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile)
|
rs780646691
|
|
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.877C>G (p.Pro293Ala)
|
rs2136128745
|
|
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser)
|
|
|
NM_001370259.2(MEN1):c.879del (p.Gly294fs)
|
|
|
NM_001370259.2(MEN1):c.87A>C (p.Arg29=)
|
rs1198070818
|
|
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser)
|
rs1565645429
|
|
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp)
|
rs1941778425
|
|
NM_001370259.2(MEN1):c.881dup (p.Arg295fs)
|
|
|
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.886C>T (p.Pro296Ser)
|
rs1941777494
|
|
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys)
|
rs2136194576
|
|
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly)
|
rs1592646361
|
|
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala)
|
rs1555165268
|
|
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu)
|
rs2136128195
|
|
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
|
|
|
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val)
|
rs1592646339
|
|
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)
|
rs1409781409
|
|
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser)
|
rs1592646309
|
|
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile)
|
rs1941776482
|
|
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)
|
rs1942017685
|
|
NM_001370259.2(MEN1):c.900C>T (p.Thr300=)
|
rs1592646297
|
|
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile)
|
rs1941775680
|
|
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro)
|
rs2136127925
|
|
NM_001370259.2(MEN1):c.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.907C>T (p.His303Tyr)
|
rs1941775165
|
|
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.910A>C (p.Lys304Gln)
|
|
|
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu)
|
rs1941774610
|
|
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+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+1G>C
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+20G>T
|
|
|
NM_001370259.2(MEN1):c.912+2T>G
|
rs1555165256
|
|
NM_001370259.2(MEN1):c.912+3G>T
|
|
|
NM_001370259.2(MEN1):c.912+5G>A
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+5G>C
|
rs1592646185
|
|
NM_001370259.2(MEN1):c.912+6G>T
|
rs755302991
|
|
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.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.913-1G>A
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-1G>C
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-2A>G
|
rs1114167498
|
|
NM_001370259.2(MEN1):c.913-4C>T
|
rs770413697
|
|
NM_001370259.2(MEN1):c.913-7C>T
|
rs911501970
|
|
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser)
|
rs1555165146
|
|
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp)
|
rs1592644100
|
|
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val)
|
|
|
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys)
|
rs1942017514
|
|
NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)
|
|
|
NM_001370259.2(MEN1):c.920C>T (p.Ala307Val)
|
|
|
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.92A>G (p.Glu31Gly)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn)
|
rs1941731256
|
|
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile)
|
rs1565644342
|
|
NM_001370259.2(MEN1):c.933C>A (p.Thr311=)
|
rs1592643965
|
|
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
|
|
|
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe)
|
rs1592643944
|
|
NM_001370259.2(MEN1):c.935_936insTCGGGATGAA (p.Tyr313fs)
|
|
|
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.939T>C (p.Tyr313=)
|
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly)
|
rs139936447
|
|
NM_001370259.2(MEN1):c.940_1050-227del
|
|
|
NM_001370259.2(MEN1):c.941G>C (p.Arg314Pro)
|
|
|
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu)
|
|
|
NM_001370259.2(MEN1):c.942G>A (p.Arg314=)
|
|
|
NM_001370259.2(MEN1):c.943G>A (p.Asp315Asn)
|
|
|
NM_001370259.2(MEN1):c.943G>C (p.Asp315His)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)
|
rs747851909
|
|
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
|
|
|
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys)
|
rs780563052
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val)
|
rs1565644220
|
|
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.955T>G (p.Tyr319Asp)
|
rs1555165101
|
|
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
|
|
|
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
|
|
|
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)
|
rs2136194414
|
|
NM_001370259.2(MEN1):c.960C>G (p.Pro320=)
|
rs1592643701
|
|
NM_001370259.2(MEN1):c.960dup (p.Tyr321fs)
|
|
|
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)
|
rs1555165094
|
|
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=)
|
rs1555165094
|
|
NM_001370259.2(MEN1):c.964A>G (p.Met322Val)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys)
|
|
|
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg)
|
rs1941725569
|
|
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile)
|
rs947594206
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=)
|
|
|
NM_001370259.2(MEN1):c.96G>A (p.Pro32=)
|
rs1268807885
|
|
NM_001370259.2(MEN1):c.970C>A (p.Leu324Met)
|
|
|
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)
|
rs1941723156
|
|
NM_001370259.2(MEN1):c.972G>A (p.Leu324=)
|
rs1592643568
|
|
NM_001370259.2(MEN1):c.972G>C (p.Leu324=)
|
rs1592643568
|
|
NM_001370259.2(MEN1):c.973G>A (p.Ala325Thr)
|
|
|
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp)
|
rs370840265
|
|
NM_001370259.2(MEN1):c.978C>T (p.Gly326=)
|
rs1555165071
|
|
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
|
|
|
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)
|
rs1592643488
|
|
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=)
|
rs1592643488
|
|
NM_001370259.2(MEN1):c.982C>A (p.His328Asn)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>G (p.His328Asp)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr)
|
rs794727882
|
|
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
|
|
|
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly)
|
rs1565644005
|
|
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu)
|
rs373135175
|
|
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
|
|
|
NM_001370259.2(MEN1):c.990C>T (p.Arg330=)
|
rs1359880787
|
|
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys)
|
rs1941721650
|
|
NM_001370259.2(MEN1):c.995G>A (p.Arg332His)
|
rs2136119513
|
|
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu)
|
|
|
NM_001370259.2(MEN1):c.996C>T (p.Arg332=)
|
rs2136119464
|
|
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
|
|
|
NM_001370259.2(MEN1):c.99C>T (p.Asp33=)
|
|
|
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
|
|
|
NM_001395413.1(POR):c.1020del (p.Asp341fs)
|
|
|
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.1044G>A (p.Leu348=)
|
rs782369494
|
|
NM_001395413.1(POR):c.1044del (p.Asn349fs)
|
|
|
NM_001395413.1(POR):c.1048A>C (p.Asn350His)
|
|
|
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.1103G>A (p.Arg368His)
|
|
|
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
|
|
|
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.1129A>G (p.Ile377Val)
|
|
|
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
|
|
|
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
|
|
|
NM_001395413.1(POR):c.115del (p.Thr39fs)
|
|
|
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
|
|
|
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
|
|
|
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
|
|
|
NM_001395413.1(POR):c.1172del (p.Gln391fs)
|
|
|
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
|
|
|
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
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.1231G>T (p.Glu411Ter)
|
|
|
NM_001395413.1(POR):c.1239+10_1239+33del
|
rs782146699
|
|
NM_001395413.1(POR):c.1239+10del
|
rs797045899
|
|
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.1239+1G>C
|
rs782168868
|
|
NM_001395413.1(POR):c.1239+1G>T
|
|
|
NM_001395413.1(POR):c.1239+2T>G
|
|
|
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.1240-2A>G
|
|
|
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.1307C>T (p.Ser436Phe)
|
rs1789345072
|
|
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
|
|
|
NM_001395413.1(POR):c.1320del (p.Ile441fs)
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
|
|
|
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
|
|
|
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
|
|
|
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
|
|
|
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.1375G>C (p.Ala459Pro)
|
rs72557936
|
|
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.1389+1G>A
|
|
|
NM_001395413.1(POR):c.1389+1G>C
|
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
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.1406_1407del (p.Val469fs)
|
rs782395275
|
|
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>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
|
|
|
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
|
|
|
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del)
|
rs72553987
|
|
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
|
|
|
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
|
|
|
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
|
|
|
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.1483C>T (p.Arg495Trp)
|
|
|
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
|
|
|
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
|
|
|
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
|
|
|
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys)
|
rs377159530
|
|
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
|
|
|
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
|
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
|
|
|
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
|
|
|
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.1541G>A (p.Arg514His)
|
|
|
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
|
|
|
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs)
|
rs1563435458
|
|
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.1577C>T (p.Thr526Met)
|
rs782248163
|
|
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
|
|
|
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.1600G>A (p.Gly534Ser)
|
rs569673150
|
|
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg)
|
rs569673150
|
|
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
|
|
|
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
|
|
|
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.1631_1634del (p.Ile544fs)
|
|
|
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
|
|
|
NM_001395413.1(POR):c.1647_1660+15del
|
|
|
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
|
|
|
NM_001395413.1(POR):c.1660+10G>T
|
|
|
NM_001395413.1(POR):c.1660+10dup
|
|
|
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.1661-2A>G
|
|
|
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.1676_1679dup (p.Leu561fs)
|
rs781914230
|
|
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
|
|
|
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
|
|
|
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
|
|
|
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
|
|
|
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp)
|
rs1414093729
|
|
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395413.1(POR):c.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.1776C>G (p.Asn592Lys)
|
|
|
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.1792del (p.Glu598fs)
|
|
|
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
|
|
|
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.1807-1G>A
|
|
|
NM_001395413.1(POR):c.1807-2A>C
|
|
|
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.1813G>A (p.Val605Ile)
|
|
|
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.1840G>A (p.Glu614Lys)
|
rs771477130
|
|
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.1874A>C (p.His625Pro)
|
|
|
NM_001395413.1(POR):c.1889+14dup
|
|
|
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>A (p.Asn641Lys)
|
rs781793669
|
|
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>G (p.His655Gln)
|
rs782143954
|
|
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.1992del (p.Lys664fs)
|
|
|
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
|
|
|
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
|
|
|
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.207T>G (p.Phe69Leu)
|
|
|
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.229-1G>A
|
|
|
NM_001395413.1(POR):c.229-2A>G
|
|
|
NM_001395413.1(POR):c.229-3T>C
|
|
|
NM_001395413.1(POR):c.229-8T>C
|
|
|
NM_001395413.1(POR):c.229-9C>G
|
|
|
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
|
|
|
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.251dup (p.Tyr84Ter)
|
|
|
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
|
|
|
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
|
|
|
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
|
|
|
NM_001395413.1(POR):c.264G>A (p.Thr88=)
|
|
|
NM_001395413.1(POR):c.270T>C (p.Thr90=)
|
|
|
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
|
|
|
NM_001395413.1(POR):c.285C>T (p.Ala95=)
|
rs1554557307
|
|
NM_001395413.1(POR):c.291C>A (p.Arg97=)
|
|
|
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
|
|
|
NM_001395413.1(POR):c.300G>A (p.Lys100=)
|
|
|
NM_001395413.1(POR):c.303C>T (p.Asp101=)
|
|
|
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
|
|
|
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
|
|
|
NM_001395413.1(POR):c.322C>T (p.Arg108Ter)
|
rs1181572912
|
|
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
|
|
|
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.369C>G (p.Ser123Arg)
|
rs2116587581
|
|
NM_001395413.1(POR):c.36G>A (p.Val12=)
|
rs781862803
|
|
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
|
|
|
NM_001395413.1(POR):c.384C>T (p.Ile128=)
|
rs782166276
|
|
NM_001395413.1(POR):c.385G>A (p.Asp129Asn)
|
rs554865831
|
|
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.386del (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.39C>T (p.Ser13=)
|
|
|
NM_001395413.1(POR):c.408C>T (p.Cys136=)
|
|
|
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
|
|
|
NM_001395413.1(POR):c.423T>C (p.Gly141=)
|
|
|
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
|
|
|
NM_001395413.1(POR):c.447C>T (p.Ala149=)
|
|
|
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
|
|
|
NM_001395413.1(POR):c.450G>A (p.Gln150=)
|
|
|
NM_001395413.1(POR):c.453C>T (p.Asp151=)
|
|
|
NM_001395413.1(POR):c.458del (p.Tyr153fs)
|
|
|
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.481G>A (p.Val161Met)
|
rs200112691
|
|
NM_001395413.1(POR):c.483G>A (p.Val161=)
|
|
|
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
|
|
|
NM_001395413.1(POR):c.498C>T (p.Val166=)
|
|
|
NM_001395413.1(POR):c.504C>G (p.Phe168Leu)
|
rs372715546
|
|
NM_001395413.1(POR):c.507+15_507+16del
|
rs368249506
|
|
NM_001395413.1(POR):c.507+18T>G
|
|
|
NM_001395413.1(POR):c.507G>A (p.Ala169=)
|
|
|
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.511T>A (p.Phe171Ile)
|
|
|
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
|
|
|
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.529A>G (p.Thr177Ala)
|
|
|
NM_001395413.1(POR):c.530C>G (p.Thr177Ser)
|
rs2116593920
|
|
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.562G>C (p.Val188Leu)
|
rs201513102
|
|
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
|
|
|
NM_001395413.1(POR):c.585C>T (p.Leu195=)
|
|
|
NM_001395413.1(POR):c.588C>A (p.Gly196=)
|
|
|
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
|
|
|
NM_001395413.1(POR):c.600C>T (p.Ile200=)
|
|
|
NM_001395413.1(POR):c.604G>C (p.Glu202Gln)
|
rs1585129186
|
|
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.625G>C (p.Asp209His)
|
rs374707345
|
|
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.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
|
|
|
NM_001395413.1(POR):c.651C>T (p.Ile217=)
|
|
|
NM_001395413.1(POR):c.658C>A (p.Arg220=)
|
|
|
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
|
|
|
NM_001395413.1(POR):c.681G>T (p.Val227=)
|
|
|
NM_001395413.1(POR):c.697del (p.Val233fs)
|
|
|
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.735C>G (p.Tyr245Ter)
|
|
|
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.768del (p.Lys257fs)
|
|
|
NM_001395413.1(POR):c.771G>A (p.Lys257=)
|
|
|
NM_001395413.1(POR):c.774G>T (p.Val258=)
|
|
|
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
|
|
|
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
|
|
|
NM_001395413.1(POR):c.793C>A (p.Arg265=)
|
|
|
NM_001395413.1(POR):c.798G>T (p.Leu266=)
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001395413.1(POR):c.804C>T (p.Ser268=)
|
rs201598971
|
|
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
|
|
|
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
|
|
|
NM_001395413.1(POR):c.810G>A (p.Glu270=)
|
|
|
NM_001395413.1(POR):c.813C>T (p.Asn271=)
|
|
|
NM_001395413.1(POR):c.815A>G (p.Gln272Arg)
|
rs201697814
|
|
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+1G>A
|
|
|
NM_001395413.1(POR):c.821+20C>T
|
|
|
NM_001395413.1(POR):c.821+2_821+3del
|
|
|
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.828del (p.Phe276fs)
|
|
|
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.891G>C (p.Glu297Asp)
|
|
|
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.955C>T (p.His319Tyr)
|
|
|
NM_001395413.1(POR):c.955dup (p.His319fs)
|
|
|
NM_001395413.1(POR):c.957C>T (p.His319=)
|
|
|
NM_001395413.1(POR):c.96G>A (p.Ser32=)
|
|
|
NM_001395413.1(POR):c.981_988dup (p.Leu330fs)
|
|
|
NM_001395413.1(POR):c.984T>C (p.Ser328=)
|
|
|
NM_001395413.1(POR):c.985G>A (p.Ala329Thr)
|
rs1469610345
|
|
NM_001395413.1(POR):c.993C>G (p.Val331=)
|
|
|
NM_002382.5(MAX):c.104G>A (p.Arg35His)
|
|
|
NM_002382.5(MAX):c.115A>G (p.Ile39Val)
|
rs2063580953
|
|
NM_002382.5(MAX):c.120del (p.Asp41fs)
|
rs1595166895
|
|
NM_002382.5(MAX):c.125G>A (p.Ser42Asn)
|
|
|
NM_002382.5(MAX):c.125G>C (p.Ser42Thr)
|
|
|
NM_002382.5(MAX):c.126C>T (p.Ser42=)
|
|
|
NM_002382.5(MAX):c.12C>T (p.Asn4=)
|
rs1595191376
|
|
NM_002382.5(MAX):c.130C>T (p.His44Tyr)
|
rs2139884129
|
|
NM_002382.5(MAX):c.134G>A (p.Ser45Asn)
|
rs2139883912
|
|
NM_002382.5(MAX):c.137T>G (p.Leu46Trp)
|
rs2139883766
|
|
NM_002382.5(MAX):c.138G>A (p.Leu46=)
|
rs1595166865
|
|
NM_002382.5(MAX):c.138G>C (p.Leu46Phe)
|
rs1595166865
|
|
NM_002382.5(MAX):c.139C>T (p.Arg47Trp)
|
rs866762160
|
|
NM_002382.5(MAX):c.141G>A (p.Arg47=)
|
|
|
NM_002382.5(MAX):c.142G>A (p.Asp48Asn)
|
rs2139883514
|
|
NM_002382.5(MAX):c.148G>A (p.Val50Ile)
|
|
|
NM_002382.5(MAX):c.150C>T (p.Val50=)
|
rs2139883121
|
|
NM_002382.5(MAX):c.152C>T (p.Pro51Leu)
|
rs2139882999
|
|
NM_002382.5(MAX):c.157C>A (p.Leu53Ile)
|
|
|
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.15_17del (p.Asp6del)
|
rs2063874960
|
|
NM_002382.5(MAX):c.161A>G (p.Gln54Arg)
|
|
|
NM_002382.5(MAX):c.162A>C (p.Gln54His)
|
rs2063580081
|
|
NM_002382.5(MAX):c.171+18G>A
|
|
|
NM_002382.5(MAX):c.171+5G>A
|
|
|
NM_002382.5(MAX):c.171+6T>A
|
rs1060500098
|
|
NM_002382.5(MAX):c.171+6T>C
|
rs1060500098
|
|
NM_002382.5(MAX):c.171+9C>G
|
|
|
NM_002382.5(MAX):c.171+9C>T
|
rs750256858
|
|
NM_002382.5(MAX):c.171G>A (p.Lys57=)
|
rs2139882332
|
|
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.172-5C>G
|
rs2063106610
|
|
NM_002382.5(MAX):c.172G>A (p.Ala58Thr)
|
rs2063106441
|
|
NM_002382.5(MAX):c.173C>T (p.Ala58Val)
|
rs2063106341
|
|
NM_002382.5(MAX):c.178C>T (p.Arg60Trp)
|
rs2063106124
|
|
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)
|
rs2063106020
|
|
NM_002382.5(MAX):c.181G>T (p.Ala61Ser)
|
|
|
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
|
|
|
NM_002382.5(MAX):c.183_195del (p.Gln62fs)
|
|
|
NM_002382.5(MAX):c.189C>A (p.Ile63=)
|
|
|
NM_002382.5(MAX):c.191T>C (p.Leu64Pro)
|
|
|
NM_002382.5(MAX):c.194A>G (p.Asp65Gly)
|
|
|
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.197A>G (p.Lys66Arg)
|
rs2063105729
|
|
NM_002382.5(MAX):c.198A>C (p.Lys66Asn)
|
|
|
NM_002382.5(MAX):c.205_206del (p.Glu69fs)
|
rs2139755167
|
|
NM_002382.5(MAX):c.208T>C (p.Tyr70His)
|
|
|
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys)
|
rs2139755062
|
|
NM_002382.5(MAX):c.211_221del (p.Ile71fs)
|
rs1060500101
|
|
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.218A>G (p.Tyr73Cys)
|
rs2063105092
|
|
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)
|
rs1193255946
|
|
NM_002382.5(MAX):c.21C>G (p.Ile7Met)
|
rs760248675
|
|
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
|
|
|
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
|
|
|
NM_002382.5(MAX):c.225A>C (p.Arg75=)
|
rs2063104742
|
|
NM_002382.5(MAX):c.228del (p.Asn78fs)
|
rs1555340550
|
|
NM_002382.5(MAX):c.22G>T (p.Glu8Ter)
|
rs752477890
|
|
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
|
|
|
NM_002382.5(MAX):c.234_235dup (p.His79fs)
|
|
|
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
|
|
|
NM_002382.5(MAX):c.23A>C (p.Glu8Ala)
|
|
|
NM_002382.5(MAX):c.242_243dup (p.Gln82fs)
|
rs2063104408
|
|
NM_002382.5(MAX):c.243C>A (p.His81Gln)
|
rs1242630320
|
|
NM_002382.5(MAX):c.244C>G (p.Gln82Glu)
|
rs2063104349
|
|
NM_002382.5(MAX):c.246G>C (p.Gln82His)
|
rs2063104208
|
|
NM_002382.5(MAX):c.24G>A (p.Glu8=)
|
rs2139977078
|
|
NM_002382.5(MAX):c.259G>A (p.Asp87Asn)
|
rs758700113
|
|
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.265A>G (p.Lys89Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.266A>G (p.Lys89Arg)
|
rs2063103739
|
|
NM_002382.5(MAX):c.267G>A (p.Lys89=)
|
|
|
NM_002382.5(MAX):c.268C>A (p.Arg90=)
|
rs1060500099
|
|
NM_002382.5(MAX):c.268C>T (p.Arg90Trp)
|
rs1060500099
|
|
NM_002382.5(MAX):c.269G>A (p.Arg90Gln)
|
rs876659562
|
|
NM_002382.5(MAX):c.269G>C (p.Arg90Pro)
|
|
|
NM_002382.5(MAX):c.270G>C (p.Arg90=)
|
|
|
NM_002382.5(MAX):c.275A>G (p.Asn92Ser)
|
|
|
NM_002382.5(MAX):c.277G>A (p.Ala93Thr)
|
rs1555340540
|
|
NM_002382.5(MAX):c.277G>C (p.Ala93Pro)
|
rs1555340540
|
|
NM_002382.5(MAX):c.280C>A (p.Leu94Ile)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>G (p.Leu94Val)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>T (p.Leu94Phe)
|
|
|
NM_002382.5(MAX):c.284T>C (p.Leu95Pro)
|
rs878854499
|
|
NM_002382.5(MAX):c.285G>A (p.Leu95=)
|
rs878854500
|
|
NM_002382.5(MAX):c.288G>A (p.Glu96=)
|
rs1595130838
|
|
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
|
rs1167538050
|
|
NM_002382.5(MAX):c.28G>C (p.Glu10Gln)
|
|
|
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+1G>A
|
rs786203385
|
|
NM_002382.5(MAX):c.295+1G>T
|
rs786203385
|
|
NM_002382.5(MAX):c.295+2_295+3del
|
rs2063102803
|
|
NM_002382.5(MAX):c.295+3G>T
|
|
|
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.296-1G>A
|
rs1555340265
|
|
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.300_309dup (p.Lys104fs)
|
|
|
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
|
rs2063066138
|
|
NM_002382.5(MAX):c.303A>G (p.Ala101=)
|
|
|
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
|
|
|
NM_002382.5(MAX):c.306G>A (p.Leu102=)
|
|
|
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
|
rs1595127413
|
|
NM_002382.5(MAX):c.309G>A (p.Glu103=)
|
rs2139741966
|
|
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
|
|
|
NM_002382.5(MAX):c.311A>G (p.Lys104Arg)
|
rs2139741946
|
|
NM_002382.5(MAX):c.315G>A (p.Ala105=)
|
rs761220254
|
|
NM_002382.5(MAX):c.321A>G (p.Ser107=)
|
|
|
NM_002382.5(MAX):c.323G>A (p.Ser108Asn)
|
rs2063065719
|
|
NM_002382.5(MAX):c.325G>A (p.Ala109Thr)
|
rs2139741730
|
|
NM_002382.5(MAX):c.327C>T (p.Ala109=)
|
rs1595127360
|
|
NM_002382.5(MAX):c.328C>G (p.Gln110Glu)
|
rs2063065600
|
|
NM_002382.5(MAX):c.330A>G (p.Gln110=)
|
rs772661746
|
|
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
|
|
|
NM_002382.5(MAX):c.333G>A (p.Leu111=)
|
rs2139741549
|
|
NM_002382.5(MAX):c.334C>T (p.Gln112Ter)
|
|
|
NM_002382.5(MAX):c.335A>G (p.Gln112Arg)
|
rs1234074950
|
|
NM_002382.5(MAX):c.336G>A (p.Gln112=)
|
rs1595127306
|
|
NM_002382.5(MAX):c.336G>C (p.Gln112His)
|
rs1595127306
|
|
NM_002382.5(MAX):c.337A>T (p.Thr113Ser)
|
rs1060500100
|
|
NM_002382.5(MAX):c.339C>T (p.Thr113=)
|
rs786203812
|
|
NM_002382.5(MAX):c.33C>T (p.Ser11=)
|
|
|
NM_002382.5(MAX):c.341A>G (p.Asn114Ser)
|
rs772912674
|
|
NM_002382.5(MAX):c.343T>C (p.Tyr115His)
|
|
|
NM_002382.5(MAX):c.346C>T (p.Pro116Ser)
|
rs1186625283
|
|
NM_002382.5(MAX):c.348C>T (p.Pro116=)
|
|
|
NM_002382.5(MAX):c.34G>A (p.Asp12Asn)
|
rs2063874476
|
|
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)
|
rs2063874476
|
|
NM_002382.5(MAX):c.350C>T (p.Ser117Phe)
|
rs2139741158
|
|
NM_002382.5(MAX):c.351C>T (p.Ser117=)
|
rs1555340215
|
|
NM_002382.5(MAX):c.353C>G (p.Ser118Ter)
|
|
|
NM_002382.5(MAX):c.353C>T (p.Ser118Leu)
|
rs2063063803
|
|
NM_002382.5(MAX):c.355G>A (p.Asp119Asn)
|
|
|
NM_002382.5(MAX):c.356A>G (p.Asp119Gly)
|
|
|
NM_002382.5(MAX):c.359A>G (p.Asn120Ser)
|
rs80206158
|
|
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.360C>A (p.Asn120Lys)
|
rs1555340209
|
|
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.36C>G (p.Asp12Glu)
|
rs370402660
|
|
NM_002382.5(MAX):c.36C>T (p.Asp12=)
|
rs370402660
|
|
NM_002382.5(MAX):c.37-10C>T
|
rs1457798349
|
|
NM_002382.5(MAX):c.37-12_37-9del
|
rs2139964910
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
NM_002382.5(MAX):c.37-3_37-2insG
|
|
|
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.373A>T (p.Asn125Tyr)
|
|
|
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
|
rs779789251
|
|
NM_002382.5(MAX):c.378C>T (p.Ala126=)
|
rs2139740643
|
|
NM_002382.5(MAX):c.37_38del (p.Glu13fs)
|
|
|
NM_002382.5(MAX):c.380A>G (p.Lys127Arg)
|
rs2063062410
|
|
NM_002382.5(MAX):c.382G>A (p.Gly128Ser)
|
rs2139740580
|
|
NM_002382.5(MAX):c.384C>A (p.Gly128=)
|
rs1555340201
|
|
NM_002382.5(MAX):c.385A>G (p.Ser129Gly)
|
rs2063062255
|
|
NM_002382.5(MAX):c.385A>T (p.Ser129Cys)
|
|
|
NM_002382.5(MAX):c.387C>A (p.Ser129Arg)
|
rs2063062162
|
|
NM_002382.5(MAX):c.387C>T (p.Ser129=)
|
|
|
NM_002382.5(MAX):c.388A>G (p.Thr130Ala)
|
rs1566598180
|
|
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
|
|
|
NM_002382.5(MAX):c.390C>T (p.Thr130=)
|
rs2139740415
|
|
NM_002382.5(MAX):c.391A>G (p.Ile131Val)
|
rs1595127131
|
|
NM_002382.5(MAX):c.398C>T (p.Ala133Val)
|
|
|
NM_002382.5(MAX):c.403G>C (p.Asp135His)
|
rs201312694
|
|
NM_002382.5(MAX):c.405T>C (p.Asp135=)
|
rs1354621995
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.408G>A (p.Gly136=)
|
rs764320975
|
|
NM_002382.5(MAX):c.409G>C (p.Gly137Arg)
|
rs17852278
|
|
NM_002382.5(MAX):c.410del (p.Gly137fs)
|
rs2139740118
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.414G>C (p.Ser138=)
|
|
|
NM_002382.5(MAX):c.416A>T (p.Asp139Val)
|
rs2139739937
|
|
NM_002382.5(MAX):c.417C>G (p.Asp139Glu)
|
rs2139739918
|
|
NM_002382.5(MAX):c.422G>C (p.Ser141Thr)
|
rs1159227189
|
|
NM_002382.5(MAX):c.424T>C (p.Ser142Pro)
|
|
|
NM_002382.5(MAX):c.429G>A (p.Glu143=)
|
rs773818427
|
|
NM_002382.5(MAX):c.429G>C (p.Glu143Asp)
|
rs773818427
|
|
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
|
|
|
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.436C>T (p.Pro146Ser)
|
|
|
NM_002382.5(MAX):c.438T>A (p.Pro146=)
|
|
|
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
|
rs2063059506
|
|
NM_002382.5(MAX):c.442dup (p.Glu148fs)
|
rs1566597938
|
|
NM_002382.5(MAX):c.444G>A (p.Glu148=)
|
|
|
NM_002382.5(MAX):c.447C>G (p.Pro149=)
|
|
|
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
|
|
|
NM_002382.5(MAX):c.452G>A (p.Ser151Asn)
|
rs2139739378
|
|
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.460A>G (p.Lys154Glu)
|
|
|
NM_002382.5(MAX):c.467G>A (p.Arg156Gln)
|
rs876659544
|
|
NM_002382.5(MAX):c.46C>A (p.Pro16Thr)
|
|
|
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
|
|
|
NM_002382.5(MAX):c.473A>G (p.Glu158Gly)
|
|
|
NM_002382.5(MAX):c.474G>A (p.Glu158=)
|
|
|
NM_002382.5(MAX):c.478del (p.Ser160fs)
|
|
|
NM_002382.5(MAX):c.47C>T (p.Pro16Leu)
|
rs2063834899
|
|
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.49A>G (p.Arg17Gly)
|
|
|
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
|
|
|
NM_002382.5(MAX):c.51G>A (p.Arg17=)
|
|
|
NM_002382.5(MAX):c.52T>A (p.Phe18Ile)
|
rs2139963969
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002382.5(MAX):c.57A>C (p.Gln19His)
|
rs1395966308
|
|
NM_002382.5(MAX):c.58T>C (p.Ser20Pro)
|
rs2063833930
|
|
NM_002382.5(MAX):c.59C>A (p.Ser20Tyr)
|
|
|
NM_002382.5(MAX):c.59C>T (p.Ser20Phe)
|
|
|
NM_002382.5(MAX):c.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.63G>T (p.Ala21=)
|
rs765338814
|
|
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.64G>T (p.Ala22Ser)
|
|
|
NM_002382.5(MAX):c.67G>A (p.Asp23Asn)
|
rs2139887316
|
|
NM_002382.5(MAX):c.68A>T (p.Asp23Val)
|
|
|
NM_002382.5(MAX):c.71A>G (p.Lys24Arg)
|
rs1174960252
|
|
NM_002382.5(MAX):c.73C>T (p.Arg25Trp)
|
|
|
NM_002382.5(MAX):c.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.91del (p.Leu31fs)
|
rs2139886197
|
|
NM_002382.5(MAX):c.93G>A (p.Leu31=)
|
|
|
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)
|
rs387906651
|
|
NM_002382.5(MAX):c.98G>A (p.Arg33Gln)
|
|
|
NM_003000.2(SDHB):c.-151_*159del
|
|
|
NM_003000.2(SDHB):c.201-?_765+?dup
|
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.2(SDHB):c.73-?_*159+?dup
|
|
|
NM_003000.3(SDHB):c.101C>A (p.Ala34Asp)
|
rs867908217
|
|
NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)
|
rs867908217
|
|
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)
|
rs1204932232
|
|
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)
|
rs2078100640
|
|
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)
|
rs2101541552
|
|
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)
|
rs761180960
|
|
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)
|
rs761180960
|
|
NM_003000.3(SDHB):c.10G>A (p.Val4Met)
|
rs2101551949
|
|
NM_003000.3(SDHB):c.111C>G (p.Pro37=)
|
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.112del (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.113G>C (p.Arg38Pro)
|
rs143058777
|
|
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)
|
|
|
NM_003000.3(SDHB):c.120G>A (p.Lys40=)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.120_122del (p.Lys41del)
|
|
|
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)
|
|
|
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)
|
|
|
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)
|
rs2101541516
|
|
NM_003000.3(SDHB):c.126del (p.Phe42fs)
|
rs878854572
|
|
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)
|
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)
|
rs2078100395
|
|
NM_003000.3(SDHB):c.128C>T (p.Ala43Val)
|
|
|
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.134A>G (p.Tyr45Cys)
|
|
|
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
|
|
|
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)
|
rs1351034939
|
|
NM_003000.3(SDHB):c.136C>A (p.Arg46=)
|
rs74315370
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
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.13G>C (p.Val5Leu)
|
rs962717797
|
|
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)
|
rs962717797
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)
|
rs2078100198
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
NM_003000.3(SDHB):c.145C>T (p.Pro49Ser)
|
|
|
NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)
|
|
|
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)
|
rs2078100131
|
|
NM_003000.3(SDHB):c.146del (p.Pro49fs)
|
|
|
NM_003000.3(SDHB):c.147A>G (p.Pro49=)
|
rs2101541448
|
|
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>C (p.Asp50His)
|
rs1060503765
|
|
NM_003000.3(SDHB):c.148G>T (p.Asp50Tyr)
|
|
|
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)
|
rs1570958022
|
|
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)
|
rs760565241
|
|
NM_003000.3(SDHB):c.150C>A (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)
|
rs1570958024
|
|
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)
|
rs2101541430
|
|
NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)
|
|
|
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)
|
rs878854573
|
|
NM_003000.3(SDHB):c.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.160G>A (p.Asp54Asn)
|
rs1570957997
|
|
NM_003000.3(SDHB):c.161A>T (p.Asp54Val)
|
rs1553178735
|
|
NM_003000.3(SDHB):c.162C>T (p.Asp54=)
|
rs2101541392
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)
|
|
|
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)
|
rs1472284221
|
|
NM_003000.3(SDHB):c.174G>A (p.Met58Ile)
|
|
|
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)
|
rs2101541371
|
|
NM_003000.3(SDHB):c.177G>C (p.Gln59His)
|
rs1277374324
|
|
NM_003000.3(SDHB):c.177G>T (p.Gln59His)
|
|
|
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)
|
rs1210793630
|
|
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)
|
|
|
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)
|
rs2101551903
|
|
NM_003000.3(SDHB):c.180T>A (p.Thr60=)
|
rs2101541350
|
|
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)
|
|
|
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)
|
rs768171765
|
|
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)
|
rs1231783823
|
|
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)
|
|
|
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)
|
rs2078099260
|
|
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)
|
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.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.18_19delinsAG (p.Leu7Val)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)
|
rs2078164049
|
|
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)
|
|
|
NM_003000.3(SDHB):c.190del (p.Asp64fs)
|
rs1553178729
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)
|
rs1570957920
|
|
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)
|
rs786202185
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)
|
rs876659329
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
NM_003000.3(SDHB):c.200+11C>T
|
|
|
NM_003000.3(SDHB):c.200+18A>T
|
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+1G>C
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+3_200+6del
|
rs2101541290
|
|
NM_003000.3(SDHB):c.200+4A>G
|
rs774908929
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.200+5G>T
|
rs1553178726
|
|
NM_003000.3(SDHB):c.200+9C>A
|
rs2101541285
|
|
NM_003000.3(SDHB):c.201-10T>A
|
rs761461907
|
|
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.201-1G>C
|
|
|
NM_003000.3(SDHB):c.201-20T>C
|
|
|
NM_003000.3(SDHB):c.201-2A>C
|
rs878854574
|
|
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.201A>G (p.Lys67=)
|
rs1436421650
|
|
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)
|
rs2101529119
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
NM_003000.3(SDHB):c.207C>T (p.Gly69=)
|
rs2101529103
|
|
NM_003000.3(SDHB):c.208C>G (p.Pro70Ala)
|
rs200890320
|
|
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)
|
rs200890320
|
|
NM_003000.3(SDHB):c.20T>A (p.Leu7His)
|
rs778776844
|
|
NM_003000.3(SDHB):c.20T>C (p.Leu7Pro)
|
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.211A>G (p.Met71Val)
|
rs1557742895
|
|
NM_003000.3(SDHB):c.212T>C (p.Met71Thr)
|
|
|
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)
|
|
|
NM_003000.3(SDHB):c.216A>G (p.Val72=)
|
rs1570951479
|
|
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)
|
|
|
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.220G>A (p.Asp74Asn)
|
rs1570951468
|
|
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
|
|
|
NM_003000.3(SDHB):c.223G>T (p.Ala75Ser)
|
rs2101529057
|
|
NM_003000.3(SDHB):c.229A>G (p.Ile77Val)
|
rs1553178046
|
|
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)
|
rs1060503767
|
|
NM_003000.3(SDHB):c.22dup (p.Ser8fs)
|
rs2101551846
|
|
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)
|
rs1570951427
|
|
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)
|
rs2101529019
|
|
NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)
|
rs774960237
|
|
NM_003000.3(SDHB):c.233A>T (p.Lys78Met)
|
|
|
NM_003000.3(SDHB):c.234G>A (p.Lys78=)
|
rs776971836
|
|
NM_003000.3(SDHB):c.234G>C (p.Lys78Asn)
|
|
|
NM_003000.3(SDHB):c.234G>T (p.Lys78Asn)
|
rs776971836
|
|
NM_003000.3(SDHB):c.235A>T (p.Ile79Phe)
|
rs771524558
|
|
NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)
|
|
|
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)
|
rs2078032308
|
|
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)
|
rs1131691051
|
|
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)
|
|
|
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)
|
rs199848267
|
|
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)
|
rs199848267
|
|
NM_003000.3(SDHB):c.240G>C (p.Lys80Asn)
|
rs2101528987
|
|
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)
|
rs1315623287
|
|
NM_003000.3(SDHB):c.243T>C (p.Asn81=)
|
rs2101528976
|
|
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)
|
rs2101528972
|
|
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)
|
|
|
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)
|
|
|
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)
|
rs763547482
|
|
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)
|
rs763547482
|
|
NM_003000.3(SDHB):c.249T>C (p.Val83=)
|
rs1570951394
|
|
NM_003000.3(SDHB):c.249del (p.Asp84fs)
|
rs2101528951
|
|
NM_003000.3(SDHB):c.24C>G (p.Ser8=)
|
|
|
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)
|
rs2078032193
|
|
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.252C>T (p.Asp84=)
|
rs1427902008
|
|
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)
|
rs1570951385
|
|
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)
|
rs2101528919
|
|
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)
|
|
|
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)
|
|
|
NM_003000.3(SDHB):c.25T>C (p.Leu9=)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.25T>G (p.Leu9Val)
|
rs1060503768
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)
|
rs915794675
|
|
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)
|
rs915794675
|
|
NM_003000.3(SDHB):c.264C>G (p.Thr88=)
|
rs41310416
|
|
NM_003000.3(SDHB):c.264C>T (p.Thr88=)
|
rs41310416
|
|
NM_003000.3(SDHB):c.267C>G (p.Phe89Leu)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.267C>T (p.Phe89=)
|
rs1553178042
|
|
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)
|
rs74315366
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)
|
rs878854575
|
|
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)
|
rs2078031940
|
|
NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)
|
|
|
NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)
|
|
|
NM_003000.3(SDHB):c.274T>A (p.Ser92Thr)
|
|
|
NM_003000.3(SDHB):c.276A>C (p.Ser92=)
|
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
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.27G>C (p.Leu9Phe)
|
rs2101551820
|
|
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)
|
rs2078031878
|
|
NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)
|
|
|
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)
|
rs2101528849
|
|
NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)
|
|
|
NM_003000.3(SDHB):c.286+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+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.286+3G>A
|
rs2078031816
|
|
NM_003000.3(SDHB):c.286+5G>A
|
rs768966871
|
|
NM_003000.3(SDHB):c.286+5G>C
|
rs768966871
|
|
NM_003000.3(SDHB):c.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.286G>C (p.Gly96Arg)
|
|
|
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)
|
rs587782243
|
|
NM_003000.3(SDHB):c.287-10_295del
|
|
|
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.287-18A>G
|
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-20T>A
|
|
|
NM_003000.3(SDHB):c.287-20_287-18del
|
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
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.287G>T (p.Gly96Val)
|
rs778952116
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)
|
|
|
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
|
|
|
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)
|
rs1553177768
|
|
NM_003000.3(SDHB):c.295G>A (p.Gly99Ser)
|
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)
|
rs1570963545
|
|
NM_003000.3(SDHB):c.302G>C (p.Cys101Ser)
|
rs74315371
|
|
NM_003000.3(SDHB):c.303T>C (p.Cys101=)
|
rs2101523383
|
|
NM_003000.3(SDHB):c.306A>G (p.Ala102=)
|
rs1553177766
|
|
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)
|
rs1553177765
|
|
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)
|
rs1570948679
|
|
NM_003000.3(SDHB):c.30G>A (p.Arg10=)
|
|
|
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)
|
rs1024111417
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)
|
rs1356656612
|
|
NM_003000.3(SDHB):c.313A>T (p.Ile105Phe)
|
|
|
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)
|
|
|
NM_003000.3(SDHB):c.315C>T (p.Ile105=)
|
|
|
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)
|
rs1557741510
|
|
NM_003000.3(SDHB):c.318T>C (p.Asn106=)
|
rs2101523320
|
|
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)
|
|
|
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)
|
rs2101523248
|
|
NM_003000.3(SDHB):c.326A>G (p.Asn109Ser)
|
rs1570948643
|
|
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)
|
rs1407350591
|
|
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)
|
|
|
NM_003000.3(SDHB):c.330T>C (p.Thr110=)
|
rs2101523275
|
|
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)
|
rs2078005090
|
|
NM_003000.3(SDHB):c.331C>T (p.Leu111=)
|
|
|
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
|
rs1060503751
|
|
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)
|
rs1570948631
|
|
NM_003000.3(SDHB):c.333A>G (p.Leu111=)
|
rs2101523252
|
|
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)
|
rs1553177762
|
|
NM_003000.3(SDHB):c.335C>T (p.Ala112Val)
|
|
|
NM_003000.3(SDHB):c.336T>C (p.Ala112=)
|
rs2101523242
|
|
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)
|
rs2078005043
|
|
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)
|
rs864321636
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
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.340A>G (p.Thr114Ala)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)
|
rs2078005007
|
|
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)
|
|
|
NM_003000.3(SDHB):c.342C>A (p.Thr114=)
|
|
|
NM_003000.3(SDHB):c.342C>T (p.Thr114=)
|
rs528599830
|
|
NM_003000.3(SDHB):c.344G>T (p.Arg115Leu)
|
|
|
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)
|
|
|
NM_003000.3(SDHB):c.347G>C (p.Arg116Thr)
|
|
|
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)
|
rs777234785
|
|
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)
|
|
|
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)
|
rs761996626
|
|
NM_003000.3(SDHB):c.351T>A (p.Ile117=)
|
rs2101523192
|
|
NM_003000.3(SDHB):c.357C>T (p.Thr119=)
|
rs1553177749
|
|
NM_003000.3(SDHB):c.359A>C (p.Asn120Thr)
|
|
|
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)
|
rs1553177746
|
|
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.35G>T (p.Arg12Leu)
|
rs1293365726
|
|
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)
|
rs1194401420
|
|
NM_003000.3(SDHB):c.363C>T (p.Leu121=)
|
|
|
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)
|
rs1570948588
|
|
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)
|
rs1557741464
|
|
NM_003000.3(SDHB):c.369G>A (p.Lys123=)
|
|
|
NM_003000.3(SDHB):c.36G>A (p.Arg12=)
|
rs754024341
|
|
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)
|
rs978525560
|
|
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)
|
rs1557741456
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)
|
rs786203506
|
|
NM_003000.3(SDHB):c.375A>G (p.Ser125=)
|
rs2101523080
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)
|
rs201372280
|
|
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)
|
|
|
NM_003000.3(SDHB):c.383A>T (p.Tyr128Phe)
|
|
|
NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)
|
|
|
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)
|
rs1553177740
|
|
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)
|
rs2101523045
|
|
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)
|
rs2101523036
|
|
NM_003000.3(SDHB):c.392del (p.Pro131fs)
|
rs1553177739
|
|
NM_003000.3(SDHB):c.393A>G (p.Pro131=)
|
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.396C>T (p.His132=)
|
|
|
NM_003000.3(SDHB):c.397A>G (p.Met133Val)
|
rs1392546433
|
|
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)
|
rs553392349
|
|
NM_003000.3(SDHB):c.399G>A (p.Met133Ile)
|
|
|
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)
|
rs1557741425
|
|
NM_003000.3(SDHB):c.39G>A (p.Leu13=)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)
|
rs201745731
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)
|
rs200893429
|
|
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.406A>G (p.Ile136Val)
|
rs2078004347
|
|
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)
|
|
|
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)
|
rs2078004335
|
|
NM_003000.3(SDHB):c.408A>C (p.Ile136=)
|
|
|
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)
|
rs2078004315
|
|
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)
|
|
|
NM_003000.3(SDHB):c.411G>A (p.Lys137=)
|
rs2078004300
|
|
NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)
|
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)
|
rs1570948527
|
|
NM_003000.3(SDHB):c.417T>C (p.Leu139=)
|
rs1570948513
|
|
NM_003000.3(SDHB):c.419T>A (p.Val140Asp)
|
|
|
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)
|
rs764089231
|
|
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)
|
rs1553177734
|
|
NM_003000.3(SDHB):c.423+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>A
|
|
|
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.423C>A (p.Pro141=)
|
|
|
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.424-1G>A
|
rs1131691060
|
|
NM_003000.3(SDHB):c.424-2A>G
|
rs2101521922
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[11]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[5]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-3C>G
|
rs1557741166
|
|
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.424G>A (p.Asp142Asn)
|
|
|
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)
|
rs759709073
|
|
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)
|
rs759709073
|
|
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)
|
rs1570948034
|
|
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)
|
rs2101551748
|
|
NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)
|
|
|
NM_003000.3(SDHB):c.435C>T (p.Asn145=)
|
rs2101521900
|
|
NM_003000.3(SDHB):c.436T>G (p.Phe146Val)
|
rs1553177689
|
|
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)
|
rs2101521886
|
|
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)
|
rs1570948017
|
|
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)
|
|
|
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)
|
rs774568101
|
|
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
|
rs1060503763
|
|
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)
|
rs2078000133
|
|
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)
|
|
|
NM_003000.3(SDHB):c.444A>T (p.Ala148=)
|
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)
|
rs2101521836
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)
|
rs1570947984
|
|
NM_003000.3(SDHB):c.447G>A (p.Gln149=)
|
rs200353146
|
|
NM_003000.3(SDHB):c.447G>T (p.Gln149His)
|
rs200353146
|
|
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)
|
rs2101521819
|
|
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)
|
rs2101521812
|
|
NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)
|
|
|
NM_003000.3(SDHB):c.453A>G (p.Lys151=)
|
rs1570947967
|
|
NM_003000.3(SDHB):c.455C>A (p.Ser152Tyr)
|
rs200414835
|
|
NM_003000.3(SDHB):c.456C>A (p.Ser152=)
|
|
|
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)
|
rs1450956956
|
|
NM_003000.3(SDHB):c.459T>C (p.Ile153=)
|
|
|
NM_003000.3(SDHB):c.45C>T (p.Ala15=)
|
rs764875162
|
|
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)
|
rs763008243
|
|
NM_003000.3(SDHB):c.465T>C (p.Pro155=)
|
rs1553177685
|
|
NM_003000.3(SDHB):c.466del (p.Tyr156fs)
|
rs2101521760
|
|
NM_003000.3(SDHB):c.468T>C (p.Tyr156=)
|
rs199718947
|
|
NM_003000.3(SDHB):c.469T>C (p.Leu157=)
|
|
|
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala)
|
rs1433760506
|
|
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)
|
rs2077999812
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)
|
rs1173714647
|
|
NM_003000.3(SDHB):c.473del (p.Lys158fs)
|
|
|
NM_003000.3(SDHB):c.477G>A (p.Lys159=)
|
rs2101521741
|
|
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)
|
|
|
NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)
|
|
|
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)
|
rs2077999799
|
|
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)
|
rs775350144
|
|
NM_003000.3(SDHB):c.480G>A (p.Lys160=)
|
rs1553177683
|
|
NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)
|
rs1553177682
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)
|
rs1049317868
|
|
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)
|
rs2101521715
|
|
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)
|
|
|
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
|
rs769687734
|
|
NM_003000.3(SDHB):c.48A>C (p.Thr16=)
|
rs1570963474
|
|
NM_003000.3(SDHB):c.491del (p.Gln164fs)
|
rs1553177678
|
|
NM_003000.3(SDHB):c.492G>A (p.Gln164=)
|
rs2101521670
|
|
NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)
|
|
|
NM_003000.3(SDHB):c.497G>A (p.Gly166Asp)
|
rs1060503760
|
|
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)
|
rs1060503753
|
|
NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)
|
|
|
NM_003000.3(SDHB):c.500_501inv (p.Lys167Thr)
|
|
|
NM_003000.3(SDHB):c.501G>A (p.Lys167=)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)
|
rs1570947881
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)
|
|
|
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.507G>A (p.Gln169=)
|
rs2101521627
|
|
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)
|
|
|
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
|
|
|
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)
|
rs138979875
|
|
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)
|
|
|
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.517T>C (p.Ser173Pro)
|
rs2077999499
|
|
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)
|
rs895331139
|
|
NM_003000.3(SDHB):c.51C>G (p.Thr17=)
|
|
|
NM_003000.3(SDHB):c.51C>T (p.Thr17=)
|
rs550555402
|
|
NM_003000.3(SDHB):c.520A>G (p.Ile174Val)
|
rs969943651
|
|
NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)
|
rs200301019
|
|
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)
|
rs2101521589
|
|
NM_003000.3(SDHB):c.523G>A (p.Glu175Lys)
|
rs202203339
|
|
NM_003000.3(SDHB):c.523dup (p.Glu175fs)
|
rs2077999421
|
|
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)
|
rs746643960
|
|
NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)
|
|
|
NM_003000.3(SDHB):c.528G>A (p.Glu176=)
|
|
|
NM_003000.3(SDHB):c.529C>A (p.Arg177Ser)
|
rs149091125
|
|
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)
|
rs2101551686
|
|
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)
|
rs2077999285
|
|
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)
|
rs2101521549
|
|
NM_003000.3(SDHB):c.534G>A (p.Glu178=)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)
|
rs2077999274
|
|
NM_003000.3(SDHB):c.537A>G (p.Lys179=)
|
|
|
NM_003000.3(SDHB):c.537dup (p.Leu180fs)
|
rs1553177669
|
|
NM_003000.3(SDHB):c.539T>C (p.Leu180Pro)
|
|
|
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+1G>A
|
rs1553177667
|
|
NM_003000.3(SDHB):c.540+3C>T
|
|
|
NM_003000.3(SDHB):c.540+4A>G
|
rs1557741074
|
|
NM_003000.3(SDHB):c.540+5T>C
|
rs1557741072
|
|
NM_003000.3(SDHB):c.540+5T>G
|
|
|
NM_003000.3(SDHB):c.540+8G>A
|
rs2077999169
|
|
NM_003000.3(SDHB):c.540_540+13del
|
rs1553177666
|
|
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.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.541-30_541-2dup
|
rs751159957
|
|
NM_003000.3(SDHB):c.541-3C>A
|
rs751920183
|
|
NM_003000.3(SDHB):c.541-3C>G
|
|
|
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>G
|
rs1570946001
|
|
NM_003000.3(SDHB):c.541-8C>T
|
|
|
NM_003000.3(SDHB):c.543C>A (p.Asp181Glu)
|
|
|
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)
|
rs1570945931
|
|
NM_003000.3(SDHB):c.546G>A (p.Gly182=)
|
|
|
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)
|
rs1557740003
|
|
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.550T>C (p.Tyr184His)
|
rs1553177442
|
|
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)
|
rs2101516629
|
|
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.555G>A (p.Glu185=)
|
|
|
NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)
|
|
|
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.558C>T (p.Cys186=)
|
rs1570945906
|
|
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)
|
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)
|
|
|
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.562C>G (p.Leu188Val)
|
rs1392463987
|
|
NM_003000.3(SDHB):c.564C>T (p.Leu188=)
|
rs776487215
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)
|
rs2101516550
|
|
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)
|
|
|
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)
|
rs201900648
|
|
NM_003000.3(SDHB):c.570C>G (p.Ala190=)
|
rs2101516535
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser)
|
rs397516835
|
|
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)
|
rs2077978395
|
|
NM_003000.3(SDHB):c.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.586T>C (p.Cys196Arg)
|
rs2101516484
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.588C>T (p.Cys196=)
|
rs1060505015
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)
|
|
|
NM_003000.3(SDHB):c.591C>T (p.Pro197=)
|
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)
|
rs2077978250
|
|
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)
|
rs1570945857
|
|
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)
|
rs2077978220
|
|
NM_003000.3(SDHB):c.597C>T (p.Tyr199=)
|
rs1570945852
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)
|
|
|
NM_003000.3(SDHB):c.598del (p.Trp200fs)
|
rs2101516424
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)
|
rs199948437
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)
|
rs2101516405
|
|
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)
|
rs1060503759
|
|
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)
|
rs2077977917
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
NM_003000.3(SDHB):c.606C>G (p.Asn202Lys)
|
rs199653121
|
|
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
|
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)
|
rs1553177435
|
|
NM_003000.3(SDHB):c.608del (p.Gly203fs)
|
rs1553177436
|
|
NM_003000.3(SDHB):c.609A>C (p.Gly203=)
|
rs1570945818
|
|
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)
|
rs1570945796
|
|
NM_003000.3(SDHB):c.60A>C (p.Gly20=)
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)
|
rs774090318
|
|
NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)
|
rs774090318
|
|
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)
|
|
|
NM_003000.3(SDHB):c.619C>G (p.Leu207Val)
|
|
|
NM_003000.3(SDHB):c.619C>T (p.Leu207=)
|
rs1570945806
|
|
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)
|
|
|
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)
|
rs1060503752
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.625C>T (p.Pro209Ser)
|
rs2101516279
|
|
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)
|
rs2077977622
|
|
NM_003000.3(SDHB):c.627T>C (p.Pro209=)
|
rs1060505016
|
|
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)
|
rs2078163173
|
|
NM_003000.3(SDHB):c.630A>C (p.Ala210=)
|
|
|
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)
|
rs2077977582
|
|
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)
|
rs2101516246
|
|
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
|
rs1228560456
|
|
NM_003000.3(SDHB):c.636T>C (p.Leu212=)
|
rs778439194
|
|
NM_003000.3(SDHB):c.637A>G (p.Met213Val)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)
|
rs770622939
|
|
NM_003000.3(SDHB):c.637dup (p.Met213fs)
|
|
|
NM_003000.3(SDHB):c.638T>G (p.Met213Arg)
|
|
|
NM_003000.3(SDHB):c.63C>G (p.Ala21=)
|
rs1557749647
|
|
NM_003000.3(SDHB):c.63dup (p.Cys22fs)
|
rs1570963451
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
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+1G>A
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642+20C>G
|
|
|
NM_003000.3(SDHB):c.642+2T>G
|
rs1553177424
|
|
NM_003000.3(SDHB):c.642+3G>A
|
rs878854577
|
|
NM_003000.3(SDHB):c.642+4A>G
|
rs1225871505
|
|
NM_003000.3(SDHB):c.642+5G>A
|
rs755486893
|
|
NM_003000.3(SDHB):c.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.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
NM_003000.3(SDHB):c.643-10G>A
|
rs1553177293
|
|
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.643-8_643-3del
|
rs2077969156
|
|
NM_003000.3(SDHB):c.643-9G>A
|
|
|
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)
|
rs1060503761
|
|
NM_003000.3(SDHB):c.646T>C (p.Tyr216His)
|
|
|
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)
|
rs1553177291
|
|
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
|
|
|
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)
|
rs200245469
|
|
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)
|
rs747518441
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)
|
|
|
NM_003000.3(SDHB):c.655A>G (p.Met219Val)
|
rs2077968991
|
|
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)
|
rs1570944850
|
|
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)
|
|
|
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)
|
rs1188548211
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)
|
rs141230910
|
|
NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)
|
rs141230910
|
|
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)
|
rs1553177288
|
|
NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)
|
|
|
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)
|
rs2101513953
|
|
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
|
|
|
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)
|
rs2101513917
|
|
NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)
|
|
|
NM_003000.3(SDHB):c.670G>C (p.Asp224His)
|
|
|
NM_003000.3(SDHB):c.672T>C (p.Asp224=)
|
|
|
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)
|
rs1570944919
|
|
NM_003000.3(SDHB):c.675C>T (p.Asp225=)
|
|
|
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)
|
rs1570944911
|
|
NM_003000.3(SDHB):c.677del (p.Phe226fs)
|
rs2077968833
|
|
NM_003000.3(SDHB):c.678C>T (p.Phe226=)
|
rs1570944907
|
|
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)
|
rs1553179319
|
|
NM_003000.3(SDHB):c.67C>T (p.Leu23=)
|
|
|
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)
|
rs1486615365
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.682G>C (p.Glu228Gln)
|
rs2077968778
|
|
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
NM_003000.3(SDHB):c.684G>A (p.Glu228=)
|
rs2101513893
|
|
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)
|
rs1209914140
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
NM_003000.3(SDHB):c.687G>C (p.Glu229Asp)
|
rs1060503754
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)
|
|
|
NM_003000.3(SDHB):c.690C>A (p.Arg230=)
|
|
|
NM_003000.3(SDHB):c.693G>A (p.Leu231=)
|
rs2101513857
|
|
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)
|
rs1553177285
|
|
NM_003000.3(SDHB):c.699G>A (p.Lys233=)
|
|
|
NM_003000.3(SDHB):c.69G>C (p.Leu23=)
|
|
|
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)
|
|
|
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)
|
rs786202913
|
|
NM_003000.3(SDHB):c.702G>A (p.Leu234=)
|
|
|
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
|
|
|
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)
|
rs1570944853
|
|
NM_003000.3(SDHB):c.705G>C (p.Gln235His)
|
rs1570944851
|
|
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)
|
rs2077968555
|
|
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)
|
rs1570963430
|
|
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)
|
rs878854579
|
|
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.712T>G (p.Phe238Val)
|
|
|
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)
|
rs1553177279
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
NM_003000.3(SDHB):c.714C>A (p.Phe238Leu)
|
rs1553177278
|
|
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)
|
rs2101513765
|
|
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)
|
rs201098090
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
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.717dup (p.Leu240fs)
|
rs1060503764
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)
|
rs878854580
|
|
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)
|
|
|
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)
|
rs2078163018
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
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+1G>A
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+3G>A
|
rs569245129
|
|
NM_003000.3(SDHB):c.72+3G>C
|
|
|
NM_003000.3(SDHB):c.72+4A>G
|
rs1228108598
|
|
NM_003000.3(SDHB):c.72+5G>A
|
rs878854581
|
|
NM_003000.3(SDHB):c.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.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)
|
rs878854582
|
|
NM_003000.3(SDHB):c.723C>T (p.Tyr241=)
|
rs878854583
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)
|
rs2101513669
|
|
NM_003000.3(SDHB):c.729C>T (p.Cys243=)
|
|
|
NM_003000.3(SDHB):c.72G>A (p.Gln24=)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.72G>C (p.Gln24His)
|
rs1553179312
|
|
NM_003000.3(SDHB):c.73-10A>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.73-1G>A
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-20T>G
|
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
NM_003000.3(SDHB):c.73-5T>G
|
rs747649519
|
|
NM_003000.3(SDHB):c.73-7A>C
|
rs770733541
|
|
NM_003000.3(SDHB):c.73-7del
|
rs2101541662
|
|
NM_003000.3(SDHB):c.73-8A>G
|
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
NM_003000.3(SDHB):c.732C>T (p.His244=)
|
rs1570944785
|
|
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)
|
|
|
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)
|
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)
|
rs1570944778
|
|
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.738C>T (p.Ile246=)
|
rs1476198465
|
|
NM_003000.3(SDHB):c.73G>A (p.Ala25Thr)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>C (p.Ala25Pro)
|
rs768101924
|
|
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)
|
rs768101924
|
|
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)
|
rs2077968110
|
|
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)
|
rs2077968083
|
|
NM_003000.3(SDHB):c.743_765+36del
|
rs2101513438
|
|
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)
|
rs1064794269
|
|
NM_003000.3(SDHB):c.749C>G (p.Thr250Arg)
|
|
|
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
|
|
|
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)
|
rs2077968005
|
|
NM_003000.3(SDHB):c.753G>A (p.Arg251=)
|
rs201094649
|
|
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)
|
rs201094649
|
|
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)
|
|
|
NM_003000.3(SDHB):c.756C>T (p.Thr252=)
|
|
|
NM_003000.3(SDHB):c.756_765+4del
|
rs1553177267
|
|
NM_003000.3(SDHB):c.757T>C (p.Cys253Arg)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.759T>C (p.Cys253=)
|
rs2101513546
|
|
NM_003000.3(SDHB):c.75del (p.Ser26fs)
|
rs2101541632
|
|
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)
|
rs2101513538
|
|
NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)
|
|
|
NM_003000.3(SDHB):c.761C>T (p.Pro254Leu)
|
rs948484408
|
|
NM_003000.3(SDHB):c.761_765+33del
|
rs2077967597
|
|
NM_003000.3(SDHB):c.762T>C (p.Pro254=)
|
rs2101513519
|
|
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)
|
rs1570944737
|
|
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+1G>A
|
rs2101513511
|
|
NM_003000.3(SDHB):c.765+20C>T
|
|
|
NM_003000.3(SDHB):c.765+3A>T
|
rs2077967877
|
|
NM_003000.3(SDHB):c.765+4C>A
|
rs776039903
|
|
NM_003000.3(SDHB):c.765+4C>G
|
|
|
NM_003000.3(SDHB):c.765+5G>T
|
rs199945904
|
|
NM_003000.3(SDHB):c.765+6T>C
|
rs2101513489
|
|
NM_003000.3(SDHB):c.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.770T>A (p.Leu257Gln)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)
|
rs1570942652
|
|
NM_003000.3(SDHB):c.772A>C (p.Asn258His)
|
rs2077946345
|
|
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)
|
rs1570942645
|
|
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)
|
rs2077946320
|
|
NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)
|
|
|
NM_003000.3(SDHB):c.777A>G (p.Pro259=)
|
|
|
NM_003000.3(SDHB):c.777A>T (p.Pro259=)
|
rs2101508283
|
|
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)
|
|
|
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)
|
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)
|
rs1553176980
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.784del (p.Ala262fs)
|
|
|
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)
|
rs1553176979
|
|
NM_003000.3(SDHB):c.786T>C (p.Ala262=)
|
rs768118230
|
|
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)
|
|
|
NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)
|
|
|
NM_003000.3(SDHB):c.789T>C (p.Ile263=)
|
rs1395418494
|
|
NM_003000.3(SDHB):c.789del (p.Ile263fs)
|
rs2077946198
|
|
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)
|
rs1557738283
|
|
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)
|
rs2101508231
|
|
NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)
|
|
|
NM_003000.3(SDHB):c.798C>T (p.Ile266=)
|
rs760042733
|
|
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)
|
rs2077946088
|
|
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)
|
rs74315369
|
|
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)
|
rs771388711
|
|
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)
|
rs1060503755
|
|
NM_003000.3(SDHB):c.805A>G (p.Met269Val)
|
rs749612417
|
|
NM_003000.3(SDHB):c.808A>G (p.Met270Val)
|
rs878854584
|
|
NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)
|
|
|
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)
|
|
|
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)
|
rs2077945936
|
|
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)
|
rs1195207024
|
|
NM_003000.3(SDHB):c.816C>G (p.Thr272=)
|
rs1454454086
|
|
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)
|
rs773523792
|
|
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)
|
rs1553176966
|
|
NM_003000.3(SDHB):c.819T>C (p.Tyr273=)
|
|
|
NM_003000.3(SDHB):c.823_825del (p.Glu275del)
|
rs1221042239
|
|
NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)
|
|
|
NM_003000.3(SDHB):c.824A>T (p.Glu275Val)
|
|
|
NM_003000.3(SDHB):c.82G>A (p.Gly28Arg)
|
rs2078100857
|
|
NM_003000.3(SDHB):c.831del (p.Ala278fs)
|
rs2101508099
|
|
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)
|
|
|
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)
|
rs1275426951
|
|
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)
|
rs2101508075
|
|
NM_003000.3(SDHB):c.837A>G (p.Ser279=)
|
rs770120161
|
|
NM_003000.3(SDHB):c.83G>C (p.Gly28Ala)
|
|
|
NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)
|
rs1316826258
|
|
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
|
|
|
NM_003000.3(SDHB):c.85G>T (p.Ala29Ser)
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)
|
rs11203289
|
|
NM_003000.3(SDHB):c.8C>T (p.Ala3Val)
|
rs11203289
|
|
NM_003000.3(SDHB):c.90G>A (p.Gln30=)
|
|
|
NM_003000.3(SDHB):c.90G>C (p.Gln30His)
|
|
|
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)
|
|
|
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)
|
|
|
NM_003000.3(SDHB):c.92C>T (p.Thr31Ile)
|
rs1553178750
|
|
NM_003000.3(SDHB):c.93A>T (p.Thr31=)
|
rs2101541592
|
|
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
|
rs1570958136
|
|
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)
|
rs1570958135
|
|
NM_003000.3(SDHB):c.96T>C (p.Ala32=)
|
|
|
NM_003000.3(SDHB):c.96T>G (p.Ala32=)
|
rs1484330671
|
|
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)
|
|
|
NM_003000.3(SDHB):c.9G>A (p.Ala3=)
|
rs1350879010
|
|
NM_003000.3(SDHB):c.9G>C (p.Ala3=)
|
rs1350879010
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003001.3(SDHC):c.406-?_*2318+?del
|
|
|
NM_003001.5(SDHC):c.102C>T (p.Ala34=)
|
rs1571851493
|
|
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr)
|
rs1342764291
|
|
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
|
|
|
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
|
|
|
NM_003001.5(SDHC):c.108A>G (p.Glu36=)
|
rs2102307691
|
|
NM_003001.5(SDHC):c.10C>G (p.Leu4Val)
|
rs770796603
|
|
NM_003001.5(SDHC):c.10C>T (p.Leu4=)
|
|
|
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
|
|
|
NM_003001.5(SDHC):c.110A>T (p.Glu37Val)
|
rs1671147192
|
|
NM_003001.5(SDHC):c.113T>C (p.Met38Thr)
|
rs1671147353
|
|
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
|
|
|
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly)
|
rs978019587
|
|
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
|
|
|
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg)
|
rs774299337
|
|
NM_003001.5(SDHC):c.120G>C (p.Arg40=)
|
rs36097930
|
|
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu)
|
rs2102307780
|
|
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser)
|
rs1671152402
|
|
NM_003001.5(SDHC):c.124del (p.Trp42fs)
|
rs2102307803
|
|
NM_003001.5(SDHC):c.127A>C (p.Asn43His)
|
rs1553262439
|
|
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.130A>G (p.Lys44Glu)
|
rs2102307825
|
|
NM_003001.5(SDHC):c.132G>A (p.Lys44=)
|
rs2102307834
|
|
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
|
|
|
NM_003001.5(SDHC):c.135T>C (p.Asn45=)
|
rs2102307847
|
|
NM_003001.5(SDHC):c.136A>G (p.Ile46Val)
|
rs1558167321
|
|
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
|
|
|
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
|
|
|
NM_003001.5(SDHC):c.13T>A (p.Leu5Met)
|
rs894925936
|
|
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala)
|
rs1571851599
|
|
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)
|
rs1362354860
|
|
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
|
|
|
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile)
|
rs1571851610
|
|
NM_003001.5(SDHC):c.149G>A (p.Arg50His)
|
rs769177037
|
|
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)
|
rs769177037
|
|
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)
|
rs1428542772
|
|
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
|
|
|
NM_003001.5(SDHC):c.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.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
|
|
|
NM_003001.5(SDHC):c.162C>A (p.Pro54=)
|
rs374450282
|
|
NM_003001.5(SDHC):c.163C>G (p.His55Asp)
|
rs1671155800
|
|
NM_003001.5(SDHC):c.164A>G (p.His55Arg)
|
rs878854585
|
|
NM_003001.5(SDHC):c.165C>T (p.His55=)
|
rs786202080
|
|
NM_003001.5(SDHC):c.166A>G (p.Ile56Val)
|
rs1363555121
|
|
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
|
|
|
NM_003001.5(SDHC):c.16C>G (p.Leu6Val)
|
rs1325823872
|
|
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
|
|
|
NM_003001.5(SDHC):c.171_179+15del
|
rs1671156558
|
|
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr)
|
rs999134407
|
|
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe)
|
rs1671156871
|
|
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
|
|
|
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
|
|
|
NM_003001.5(SDHC):c.175del (p.Tyr59fs)
|
rs1671157149
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly)
|
rs1571851728
|
|
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+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+1G>T
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+20C>A
|
rs2102308154
|
|
NM_003001.5(SDHC):c.179+20C>G
|
|
|
NM_003001.5(SDHC):c.179+2T>A
|
|
|
NM_003001.5(SDHC):c.179+3405A>G
|
|
|
NM_003001.5(SDHC):c.179+3A>C
|
rs1571851753
|
|
NM_003001.5(SDHC):c.179+3A>G
|
|
|
NM_003001.5(SDHC):c.179+4A>G
|
|
|
NM_003001.5(SDHC):c.179+5G>C
|
rs1671157979
|
|
NM_003001.5(SDHC):c.179+8A>C
|
rs2102308122
|
|
NM_003001.5(SDHC):c.179+9G>A
|
rs1558167376
|
|
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn)
|
rs1179839529
|
|
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro)
|
rs1211574644
|
|
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)
|
rs1553260596
|
|
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.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.180-3C>T
|
rs1328389180
|
|
NM_003001.5(SDHC):c.180-4A>G
|
|
|
NM_003001.5(SDHC):c.180-9T>C
|
rs2102335976
|
|
NM_003001.5(SDHC):c.180T>C (p.Ser60=)
|
rs752482067
|
|
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)
|
rs1571869120
|
|
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
|
|
|
NM_003001.5(SDHC):c.183del (p.Trp61fs)
|
rs1671684409
|
|
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys)
|
rs1558174466
|
|
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe)
|
rs2102336071
|
|
NM_003001.5(SDHC):c.18G>C (p.Leu6=)
|
rs1571828901
|
|
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser)
|
rs1571869136
|
|
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu)
|
rs876658398
|
|
NM_003001.5(SDHC):c.193A>G (p.Met65Val)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.193A>T (p.Met65Leu)
|
rs1060501392
|
|
NM_003001.5(SDHC):c.194T>A (p.Met65Lys)
|
rs2102336108
|
|
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr)
|
rs1162090559
|
|
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu)
|
rs760572684
|
|
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly)
|
rs760572684
|
|
NM_003001.5(SDHC):c.19A>C (p.Arg7=)
|
rs1670521233
|
|
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
|
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
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+14G>T
|
rs2102272018
|
|
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+1G>A
|
|
|
NM_003001.5(SDHC):c.20+1G>T
|
rs1249046874
|
|
NM_003001.5(SDHC):c.20+3G>C
|
rs377566366
|
|
NM_003001.5(SDHC):c.20+4066C>G
|
|
|
NM_003001.5(SDHC):c.20+4A>G
|
|
|
NM_003001.5(SDHC):c.20+4del
|
rs2102271885
|
|
NM_003001.5(SDHC):c.20+5C>T
|
rs760206414
|
|
NM_003001.5(SDHC):c.20+6T>A
|
|
|
NM_003001.5(SDHC):c.20+6T>G
|
rs1013252106
|
|
NM_003001.5(SDHC):c.20+7T>G
|
rs1553260599
|
|
NM_003001.5(SDHC):c.20+8C>A
|
rs773661299
|
|
NM_003001.5(SDHC):c.20+98C>T
|
|
|
NM_003001.5(SDHC):c.20+9A>C
|
rs1271741954
|
|
NM_003001.5(SDHC):c.20+9A>G
|
|
|
NM_003001.5(SDHC):c.200T>A (p.Met67Lys)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.200T>C (p.Met67Thr)
|
rs1287584713
|
|
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
|
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
|
|
|
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys)
|
rs2102271857
|
|
NM_003001.5(SDHC):c.21-10T>C
|
rs771805280
|
|
NM_003001.5(SDHC):c.21-1G>A
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.21-3C>G
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-3C>T
|
rs1670921815
|
|
NM_003001.5(SDHC):c.21-4G>A
|
|
|
NM_003001.5(SDHC):c.21-5T>G
|
|
|
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.211C>T (p.His71Tyr)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.214del (p.Arg72fs)
|
rs2102336244
|
|
NM_003001.5(SDHC):c.215del (p.Arg72fs)
|
rs1553264218
|
|
NM_003001.5(SDHC):c.219C>T (p.Gly73=)
|
rs752049668
|
|
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala)
|
rs1060501391
|
|
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
|
|
|
NM_003001.5(SDHC):c.222T>C (p.Thr74=)
|
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
NM_003001.5(SDHC):c.226A>G (p.Ile76Val)
|
rs1060501389
|
|
NM_003001.5(SDHC):c.22C>A (p.His8Asn)
|
rs746666691
|
|
NM_003001.5(SDHC):c.22C>T (p.His8Tyr)
|
rs746666691
|
|
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)
|
rs1060501393
|
|
NM_003001.5(SDHC):c.232T>C (p.Leu78=)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.232T>G (p.Leu78Val)
|
rs1553264225
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
NM_003001.5(SDHC):c.237T>C (p.Ser79=)
|
|
|
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
|
|
|
NM_003001.5(SDHC):c.240A>G (p.Ala80=)
|
rs1671687938
|
|
NM_003001.5(SDHC):c.241+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+4T>C
|
|
|
NM_003001.5(SDHC):c.241+5G>A
|
rs1167538377
|
|
NM_003001.5(SDHC):c.241+5dup
|
rs2102336440
|
|
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.241G>T (p.Gly81Trp)
|
rs2102336404
|
|
NM_003001.5(SDHC):c.242-13G>C
|
|
|
NM_003001.5(SDHC):c.242-20C>G
|
|
|
NM_003001.5(SDHC):c.242-6C>A
|
rs1571889931
|
|
NM_003001.5(SDHC):c.242-6C>T
|
rs1571889931
|
|
NM_003001.5(SDHC):c.242-9del
|
|
|
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.244G>A (p.Val82Ile)
|
rs570325845
|
|
NM_003001.5(SDHC):c.244G>T (p.Val82Phe)
|
rs570325845
|
|
NM_003001.5(SDHC):c.246C>G (p.Val82=)
|
rs2102370246
|
|
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala)
|
rs1558182753
|
|
NM_003001.5(SDHC):c.247dup (p.Ser83fs)
|
rs1672284298
|
|
NM_003001.5(SDHC):c.24C>A (p.His8Gln)
|
rs761381438
|
|
NM_003001.5(SDHC):c.24C>T (p.His8=)
|
rs761381438
|
|
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250C>G (p.Leu84Val)
|
rs942160050
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg)
|
rs1672284764
|
|
NM_003001.5(SDHC):c.252T>C (p.Leu84=)
|
|
|
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys)
|
rs1672284859
|
|
NM_003001.5(SDHC):c.255T>C (p.Phe85=)
|
rs2102370353
|
|
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
|
|
|
NM_003001.5(SDHC):c.258C>T (p.Gly86=)
|
|
|
NM_003001.5(SDHC):c.259A>G (p.Met87Val)
|
rs756382502
|
|
NM_003001.5(SDHC):c.25G>T (p.Val9Phe)
|
rs774768866
|
|
NM_003001.5(SDHC):c.260T>C (p.Met87Thr)
|
rs2102370399
|
|
NM_003001.5(SDHC):c.267C>T (p.Ala89=)
|
|
|
NM_003001.5(SDHC):c.268C>T (p.Leu90=)
|
|
|
NM_003001.5(SDHC):c.271T>G (p.Leu91Val)
|
rs144532303
|
|
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe)
|
rs1672286186
|
|
NM_003001.5(SDHC):c.276C>G (p.Leu92=)
|
|
|
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
|
|
|
NM_003001.5(SDHC):c.278dup (p.Gly94fs)
|
rs1483039185
|
|
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.287T>G (p.Phe96Cys)
|
|
|
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
|
|
|
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly)
|
rs1672286669
|
|
NM_003001.5(SDHC):c.291G>A (p.Glu97=)
|
|
|
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
|
|
|
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.296A>G (p.Tyr99Cys)
|
rs1060501390
|
|
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
|
|
|
NM_003001.5(SDHC):c.297T>C (p.Tyr99=)
|
rs2102370693
|
|
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala)
|
rs1670923061
|
|
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
|
|
|
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)
|
rs1670517782
|
|
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys)
|
rs1571890168
|
|
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe)
|
rs1571890177
|
|
NM_003001.5(SDHC):c.307G>A (p.Val103Met)
|
rs896411432
|
|
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
|
|
|
NM_003001.5(SDHC):c.30T>C (p.Gly10=)
|
rs1170595036
|
|
NM_003001.5(SDHC):c.30T>G (p.Gly10=)
|
|
|
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
|
|
|
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.316C>G (p.Leu106Val)
|
|
|
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.329C>T (p.Pro110Leu)
|
rs776485432
|
|
NM_003001.5(SDHC):c.32G>A (p.Arg11His)
|
rs767802663
|
|
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu)
|
rs767802663
|
|
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
|
|
|
NM_003001.5(SDHC):c.333A>G (p.Ala111=)
|
rs950221552
|
|
NM_003001.5(SDHC):c.334C>T (p.Leu112=)
|
rs1329297940
|
|
NM_003001.5(SDHC):c.337A>G (p.Ile113Val)
|
rs1558182863
|
|
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
|
|
|
NM_003001.5(SDHC):c.345A>G (p.Thr115=)
|
rs2102371010
|
|
NM_003001.5(SDHC):c.348T>C (p.Ala116=)
|
|
|
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
|
|
|
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)
|
rs1672291512
|
|
NM_003001.5(SDHC):c.34C>G (p.His12Asp)
|
rs1670923808
|
|
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg)
|
rs1571890337
|
|
NM_003001.5(SDHC):c.351G>A (p.Lys117=)
|
rs1571890344
|
|
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
|
|
|
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
|
|
|
NM_003001.5(SDHC):c.357A>G (p.Ala119=)
|
rs2102371098
|
|
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)
|
rs1672292051
|
|
NM_003001.5(SDHC):c.35A>G (p.His12Arg)
|
rs1670923933
|
|
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
|
|
|
NM_003001.5(SDHC):c.360T>C (p.Leu120=)
|
rs2102371131
|
|
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
|
|
|
NM_003001.5(SDHC):c.363C>A (p.Val121=)
|
|
|
NM_003001.5(SDHC):c.363C>T (p.Val121=)
|
rs1273832397
|
|
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.364T>G (p.Phe122Val)
|
rs1553265808
|
|
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu)
|
rs868596979
|
|
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala)
|
rs773039986
|
|
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)
|
rs773039986
|
|
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu)
|
rs1571890413
|
|
NM_003001.5(SDHC):c.36T>C (p.His12=)
|
|
|
NM_003001.5(SDHC):c.370C>G (p.Leu124Val)
|
rs1571890420
|
|
NM_003001.5(SDHC):c.372C>A (p.Leu124=)
|
rs766007157
|
|
NM_003001.5(SDHC):c.373A>G (p.Met125Val)
|
rs771059368
|
|
NM_003001.5(SDHC):c.374T>C (p.Met125Thr)
|
rs1060501387
|
|
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
|
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.379C>A (p.His127Asn)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
|
|
|
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
|
|
|
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.385T>C (p.Trp129Arg)
|
rs541278701
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)
|
rs981049067
|
|
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe)
|
rs1558164528
|
|
NM_003001.5(SDHC):c.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.394A>G (p.Ile132Val)
|
rs2102371416
|
|
NM_003001.5(SDHC):c.396C>A (p.Ile132=)
|
|
|
NM_003001.5(SDHC):c.399A>G (p.Arg133=)
|
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003001.5(SDHC):c.402C>T (p.His134=)
|
rs754213041
|
|
NM_003001.5(SDHC):c.403T>A (p.Leu135Met)
|
rs1455783076
|
|
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+1G>A
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1del
|
rs1558182956
|
|
NM_003001.5(SDHC):c.405+6T>G
|
|
|
NM_003001.5(SDHC):c.405+7T>A
|
|
|
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe)
|
rs757663926
|
|
NM_003001.5(SDHC):c.406-10T>C
|
rs1060504225
|
|
NM_003001.5(SDHC):c.406-10T>G
|
rs1060504225
|
|
NM_003001.5(SDHC):c.406-2A>C
|
|
|
NM_003001.5(SDHC):c.406-3C>T
|
rs372490900
|
|
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.406-6C>G
|
rs1337338303
|
|
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.406A>C (p.Met136Leu)
|
rs1486341484
|
|
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg)
|
rs890210469
|
|
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu)
|
rs1060501385
|
|
NM_003001.5(SDHC):c.417A>G (p.Leu139=)
|
|
|
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
|
|
|
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg)
|
rs1558185879
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.423A>G (p.Lys141=)
|
rs2102385065
|
|
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys)
|
rs2102385085
|
|
NM_003001.5(SDHC):c.426C>T (p.Gly142=)
|
|
|
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)
|
rs1366410028
|
|
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)
|
rs1553266487
|
|
NM_003001.5(SDHC):c.435T>A (p.Ile145=)
|
|
|
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
|
|
|
NM_003001.5(SDHC):c.438C>A (p.Pro146=)
|
rs1418513098
|
|
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
|
rs1571898957
|
|
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly)
|
rs201286421
|
|
NM_003001.5(SDHC):c.441G>A (p.Gln147=)
|
|
|
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
|
|
|
NM_003001.5(SDHC):c.442C>T (p.Leu148=)
|
|
|
NM_003001.5(SDHC):c.444A>G (p.Leu148=)
|
rs377230417
|
|
NM_003001.5(SDHC):c.445T>C (p.Tyr149His)
|
rs2102385345
|
|
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys)
|
rs773142195
|
|
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln)
|
rs1294873008
|
|
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro)
|
rs1558185927
|
|
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr)
|
rs1571899020
|
|
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
|
|
|
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
|
|
|
NM_003001.5(SDHC):c.453T>C (p.Ser151=)
|
rs2102385466
|
|
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg)
|
rs1558185932
|
|
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
|
|
|
NM_003001.5(SDHC):c.455G>T (p.Gly152Val)
|
rs1060501386
|
|
NM_003001.5(SDHC):c.456A>C (p.Gly152=)
|
rs886251473
|
|
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
|
|
|
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
|
|
|
NM_003001.5(SDHC):c.45A>T (p.Arg15=)
|
rs1007336839
|
|
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
|
|
|
NM_003001.5(SDHC):c.460del (p.Val154fs)
|
rs786201665
|
|
NM_003001.5(SDHC):c.462T>C (p.Val154=)
|
rs2102385569
|
|
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
|
|
|
NM_003001.5(SDHC):c.464T>C (p.Val155Ala)
|
rs1672552536
|
|
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.469G>A (p.Val157Ile)
|
|
|
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr)
|
rs878994954
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003001.5(SDHC):c.474T>G (p.Leu158=)
|
rs2102385657
|
|
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
|
|
|
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro)
|
rs2102385668
|
|
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.478G>A (p.Val160Met)
|
rs1553266502
|
|
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp)
|
rs1558164567
|
|
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
|
|
|
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
|
|
|
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe)
|
rs1553266504
|
|
NM_003001.5(SDHC):c.486C>T (p.Ser162=)
|
rs2102385816
|
|
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro)
|
rs1553266506
|
|
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
|
|
|
NM_003001.5(SDHC):c.48C>G (p.Ala16=)
|
rs1553261765
|
|
NM_003001.5(SDHC):c.490A>G (p.Met164Val)
|
rs200375156
|
|
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
|
|
|
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.497T>G (p.Leu166Arg)
|
rs1571899223
|
|
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
|
|
|
NM_003001.5(SDHC):c.49C>T (p.His17Tyr)
|
rs2102295552
|
|
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro)
|
rs1198315342
|
|
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
|
|
|
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
|
|
|
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr)
|
rs1672554961
|
|
NM_003001.5(SDHC):c.504C>T (p.Ala168=)
|
rs1571899229
|
|
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
|
|
|
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe)
|
rs1571899249
|
|
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)
|
rs1672555380
|
|
NM_003001.5(SDHC):c.54T>C (p.Phe18=)
|
rs200761743
|
|
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly)
|
rs1670926798
|
|
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
|
|
|
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
|
|
|
NM_003001.5(SDHC):c.60T>G (p.Pro20=)
|
rs2102295634
|
|
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)
|
rs1553261768
|
|
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
|
|
|
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.66_74del (p.Cys23_Arg25del)
|
|
|
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg)
|
rs2102295690
|
|
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
|
|
|
NM_003001.5(SDHC):c.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.71T>A (p.Ile24Asn)
|
rs2102295698
|
|
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly)
|
rs878854587
|
|
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
|
|
|
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp)
|
rs1670928309
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.77+5G>C
|
|
|
NM_003001.5(SDHC):c.77+9C>G
|
|
|
NM_003001.5(SDHC):c.77+9C>T
|
rs2102295766
|
|
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser)
|
rs1670928456
|
|
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.78-19del
|
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003001.5(SDHC):c.78-2A>G
|
|
|
NM_003001.5(SDHC):c.78-9T>G
|
rs2102307530
|
|
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
|
|
|
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
|
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
|
|
|
NM_003001.5(SDHC):c.81T>C (p.Ala27=)
|
rs876659297
|
|
NM_003001.5(SDHC):c.82G>A (p.Val28Ile)
|
rs754818119
|
|
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
|
rs754818119
|
|
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu)
|
rs1671145169
|
|
NM_003001.5(SDHC):c.86del (p.Pro29fs)
|
rs1671145065
|
|
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu)
|
rs142139022
|
|
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
|
|
|
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)
|
rs1457574786
|
|
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser)
|
rs1571851464
|
|
NM_003001.5(SDHC):c.96C>T (p.Thr32=)
|
rs1671145722
|
|
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)
|
rs747828462
|
|
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys)
|
rs148566767
|
|
NM_003002.3(SDHD):c.-84_*831del
|
|
|
NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.107A>C (p.Gln36Pro)
|
rs759143732
|
|
NM_003002.4(SDHD):c.108G>T (p.Gln36His)
|
rs766884646
|
|
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)
|
rs1865654125
|
|
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
|
|
|
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)
|
rs1032016970
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
NM_003002.4(SDHD):c.110A>T (p.Asp37Val)
|
rs1865654258
|
|
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)
|
rs199901239
|
|
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
|
rs1865654197
|
|
NM_003002.4(SDHD):c.114A>G (p.Arg38=)
|
rs1555186794
|
|
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)
|
rs1043566340
|
|
NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)
|
|
|
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)
|
rs146276662
|
|
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
|
rs1592778916
|
|
NM_003002.4(SDHD):c.120C>G (p.Ile40Met)
|
rs2135267285
|
|
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala)
|
rs764006625
|
|
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser)
|
rs764006625
|
|
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
|
|
|
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)
|
rs1865655347
|
|
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)
|
|
|
NM_003002.4(SDHD):c.126A>G (p.Glu42=)
|
rs2135267333
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.12C>T (p.Leu4=)
|
rs2135264636
|
|
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr)
|
rs1566692479
|
|
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
|
|
|
NM_003002.4(SDHD):c.136G>A (p.Val46Met)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136G>T (p.Val46Leu)
|
rs886047699
|
|
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
|
|
|
NM_003002.4(SDHD):c.138G>A (p.Val46=)
|
rs2135267384
|
|
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)
|
rs1865655722
|
|
NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)
|
|
|
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)
|
rs1566690018
|
|
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg)
|
rs899706404
|
|
NM_003002.4(SDHD):c.145A>G (p.Ile49Val)
|
|
|
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr)
|
rs1555186808
|
|
NM_003002.4(SDHD):c.147A>G (p.Ile49Met)
|
rs1566692534
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
|
rs104894310
|
|
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
|
|
|
NM_003002.4(SDHD):c.150C>G (p.His50Gln)
|
|
|
NM_003002.4(SDHD):c.150C>T (p.His50=)
|
|
|
NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)
|
|
|
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
|
rs587782210
|
|
NM_003002.4(SDHD):c.155C>T (p.Ser52Leu)
|
rs587782210
|
|
NM_003002.4(SDHD):c.156_158del (p.Pro53del)
|
|
|
NM_003002.4(SDHD):c.157C>G (p.Pro53Ala)
|
rs1865656629
|
|
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
|
|
|
NM_003002.4(SDHD):c.160A>C (p.Ser54Arg)
|
rs2135267524
|
|
NM_003002.4(SDHD):c.164A>G (p.His55Arg)
|
|
|
NM_003002.4(SDHD):c.164A>T (p.His55Leu)
|
rs1865656869
|
|
NM_003002.4(SDHD):c.165C>T (p.His55=)
|
rs1592779061
|
|
NM_003002.4(SDHD):c.167A>G (p.His56Arg)
|
rs1555186817
|
|
NM_003002.4(SDHD):c.168T>A (p.His56Gln)
|
rs1865657093
|
|
NM_003002.4(SDHD):c.169+11T>C
|
|
|
NM_003002.4(SDHD):c.169+16C>T
|
|
|
NM_003002.4(SDHD):c.169+1G>A
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+1G>T
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+20G>T
|
|
|
NM_003002.4(SDHD):c.169+3A>G
|
rs1865657168
|
|
NM_003002.4(SDHD):c.169+5G>C
|
rs1865657237
|
|
NM_003002.4(SDHD):c.169+7TC[2]
|
|
|
NM_003002.4(SDHD):c.169+8C>T
|
rs1592779083
|
|
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
|
rs11547889
|
|
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.170-12T>A
|
|
|
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.170-1G>T
|
rs1306475361
|
|
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.170-2A>G
|
|
|
NM_003002.4(SDHD):c.170-5T>A
|
rs1218549926
|
|
NM_003002.4(SDHD):c.170-6T>G
|
rs753703004
|
|
NM_003002.4(SDHD):c.170-8T>A
|
rs2135269114
|
|
NM_003002.4(SDHD):c.170-9T>C
|
rs1592780269
|
|
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)
|
|
|
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe)
|
rs2135269128
|
|
NM_003002.4(SDHD):c.171T>C (p.Ser57=)
|
rs2135269133
|
|
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser)
|
rs1865684789
|
|
NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)
|
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
|
rs1592780300
|
|
NM_003002.4(SDHD):c.177C>T (p.Ser59=)
|
rs764869982
|
|
NM_003002.4(SDHD):c.179A>C (p.Lys60Thr)
|
|
|
NM_003002.4(SDHD):c.179A>G (p.Lys60Arg)
|
|
|
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)
|
|
|
NM_003002.4(SDHD):c.180G>A (p.Lys60=)
|
rs750688879
|
|
NM_003002.4(SDHD):c.181G>C (p.Ala61Pro)
|
|
|
NM_003002.4(SDHD):c.182C>T (p.Ala61Val)
|
|
|
NM_003002.4(SDHD):c.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.18G>T (p.Arg6Ser)
|
rs200895313
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.190C>G (p.Leu64Val)
|
|
|
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)
|
rs387906358
|
|
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
|
|
|
NM_003002.4(SDHD):c.192C>G (p.Leu64=)
|
rs1592780337
|
|
NM_003002.4(SDHD):c.194A>G (p.His65Arg)
|
rs780226013
|
|
NM_003002.4(SDHD):c.195C>T (p.His65=)
|
rs11547893
|
|
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala)
|
rs2135269250
|
|
NM_003002.4(SDHD):c.19C>T (p.Leu7=)
|
rs1337542194
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
|
rs1592780362
|
|
NM_003002.4(SDHD):c.201T>C (p.Thr67=)
|
rs2135269268
|
|
NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)
|
|
|
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)
|
|
|
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)
|
rs1865686266
|
|
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
|
|
|
NM_003002.4(SDHD):c.207G>A (p.Glu69=)
|
rs1592780392
|
|
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys)
|
rs755047928
|
|
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)
|
rs755047928
|
|
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)
|
rs1865619523
|
|
NM_003002.4(SDHD):c.211G>T (p.Val71Phe)
|
rs1428042303
|
|
NM_003002.4(SDHD):c.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.220G>A (p.Val74Ile)
|
|
|
NM_003002.4(SDHD):c.223T>C (p.Leu75=)
|
rs2135269384
|
|
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser)
|
rs1060503777
|
|
NM_003002.4(SDHD):c.224del (p.Leu75fs)
|
rs2135269378
|
|
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe)
|
rs1865687714
|
|
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe)
|
rs1865687801
|
|
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro)
|
rs1865687896
|
|
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)
|
rs1865619629
|
|
NM_003002.4(SDHD):c.231G>A (p.Leu77=)
|
rs1187106228
|
|
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)
|
|
|
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
|
rs1592780479
|
|
NM_003002.4(SDHD):c.233G>T (p.Gly78Val)
|
rs1865688426
|
|
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
|
rs1592780488
|
|
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)
|
rs1555187010
|
|
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)
|
rs558914063
|
|
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
|
|
|
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)
|
rs80338844
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro)
|
rs745559875
|
|
NM_003002.4(SDHD):c.244G>T (p.Ala82Ser)
|
rs745559875
|
|
NM_003002.4(SDHD):c.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.247G>A (p.Ala83Thr)
|
|
|
NM_003002.4(SDHD):c.248C>T (p.Ala83Val)
|
rs370165653
|
|
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
|
|
|
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)
|
rs199517389
|
|
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser)
|
rs1279566824
|
|
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
|
rs772671893
|
|
NM_003002.4(SDHD):c.260C>A (p.Pro87His)
|
|
|
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
|
|
|
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
|
rs1592780559
|
|
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
|
|
|
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
|
rs765102002
|
|
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu)
|
rs1555187033
|
|
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)
|
rs200255724
|
|
NM_003002.4(SDHD):c.269C>G (p.Ala90Gly)
|
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
|
rs1592777287
|
|
NM_003002.4(SDHD):c.26C>T (p.Ala9Val)
|
rs1592777287
|
|
NM_003002.4(SDHD):c.270G>C (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.270G>T (p.Ala90=)
|
rs766656463
|
|
NM_003002.4(SDHD):c.271A>T (p.Met91Leu)
|
rs2135269615
|
|
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
|
rs1592780595
|
|
NM_003002.4(SDHD):c.272T>C (p.Met91Thr)
|
|
|
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
|
|
|
NM_003002.4(SDHD):c.274G>A (p.Asp92Asn)
|
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)
|
|
|
NM_003002.4(SDHD):c.276C>T (p.Asp92=)
|
rs2135269643
|
|
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
|
rs1592780620
|
|
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.281C>T (p.Ser94Phe)
|
rs199754684
|
|
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)
|
rs2135269697
|
|
NM_003002.4(SDHD):c.282C>G (p.Ser94=)
|
rs781182616
|
|
NM_003002.4(SDHD):c.283C>G (p.Leu95Val)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283C>T (p.Leu95=)
|
rs1865691704
|
|
NM_003002.4(SDHD):c.283del (p.Leu95fs)
|
rs2135269692
|
|
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr)
|
rs1265437700
|
|
NM_003002.4(SDHD):c.288T>C (p.Ala96=)
|
rs2135269735
|
|
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
|
|
|
NM_003002.4(SDHD):c.288_290del (p.Ala98del)
|
rs1566694825
|
|
NM_003002.4(SDHD):c.288del (p.Ala97fs)
|
rs2135269740
|
|
NM_003002.4(SDHD):c.28G>A (p.Val10Ile)
|
rs1555186671
|
|
NM_003002.4(SDHD):c.290C>T (p.Ala97Val)
|
rs756533450
|
|
NM_003002.4(SDHD):c.291A>C (p.Ala97=)
|
rs1592780682
|
|
NM_003002.4(SDHD):c.292G>C (p.Ala98Pro)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser)
|
rs1865692235
|
|
NM_003002.4(SDHD):c.295C>G (p.Leu99Val)
|
rs1865692425
|
|
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala)
|
rs1555187065
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile)
|
rs557454864
|
|
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
|
|
|
NM_003002.4(SDHD):c.301C>G (p.Leu101Val)
|
rs1165258369
|
|
NM_003002.4(SDHD):c.302T>A (p.Leu101His)
|
rs2135269810
|
|
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
|
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)
|
|
|
NM_003002.4(SDHD):c.308G>A (p.Gly103Asp)
|
|
|
NM_003002.4(SDHD):c.313T>C (p.Trp105Arg)
|
|
|
NM_003002.4(SDHD):c.314+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+1G>A
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+1G>T
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+20del
|
rs755475561
|
|
NM_003002.4(SDHD):c.314+2C>T
|
rs1340664447
|
|
NM_003002.4(SDHD):c.314+3A>C
|
rs1555187084
|
|
NM_003002.4(SDHD):c.314+4A>G
|
rs1592780789
|
|
NM_003002.4(SDHD):c.314+5G>A
|
rs1566695035
|
|
NM_003002.4(SDHD):c.314+6T>C
|
rs1555187085
|
|
NM_003002.4(SDHD):c.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.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
NM_003002.4(SDHD):c.315-12C>A
|
|
|
NM_003002.4(SDHD):c.315-12dup
|
|
|
NM_003002.4(SDHD):c.315-13del
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-13dup
|
rs2135277277
|
|
NM_003002.4(SDHD):c.315-16T>G
|
|
|
NM_003002.4(SDHD):c.315-18T>A
|
rs1260988180
|
|
NM_003002.4(SDHD):c.315-2A>G
|
rs2135277333
|
|
NM_003002.4(SDHD):c.315-2A>T
|
|
|
NM_003002.4(SDHD):c.315-3T>C
|
rs1555187565
|
|
NM_003002.4(SDHD):c.315-3del
|
rs1566702297
|
|
NM_003002.4(SDHD):c.315-4T>G
|
rs944726340
|
|
NM_003002.4(SDHD):c.315-7_315-5delinsAAA
|
rs1060503775
|
|
NM_003002.4(SDHD):c.315-8T>C
|
rs1592786101
|
|
NM_003002.4(SDHD):c.315-9T>G
|
rs911853469
|
|
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
|
rs1060503769
|
|
NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)
|
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
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.319C>T (p.Leu107Phe)
|
rs1209781530
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
|
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)
|
rs1555187580
|
|
NM_003002.4(SDHD):c.331G>C (p.Val111Leu)
|
|
|
NM_003002.4(SDHD):c.332T>C (p.Val111Ala)
|
rs1592786183
|
|
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala)
|
rs1865809730
|
|
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
|
|
|
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)
|
rs1555187583
|
|
NM_003002.4(SDHD):c.337G>C (p.Asp113His)
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.338A>G (p.Asp113Gly)
|
rs786202513
|
|
NM_003002.4(SDHD):c.338A>T (p.Asp113Val)
|
rs786202513
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
|
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003002.4(SDHD):c.346C>T (p.His116Tyr)
|
rs2135277443
|
|
NM_003002.4(SDHD):c.347A>T (p.His116Leu)
|
rs2135277447
|
|
NM_003002.4(SDHD):c.348T>C (p.His116=)
|
rs2135277453
|
|
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)
|
|
|
NM_003002.4(SDHD):c.351G>T (p.Gly117=)
|
rs1566702512
|
|
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)
|
rs1865810526
|
|
NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)
|
|
|
NM_003002.4(SDHD):c.352del (p.Asp118fs)
|
rs1131691064
|
|
NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)
|
|
|
NM_003002.4(SDHD):c.354T>C (p.Asp118=)
|
rs911663426
|
|
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)
|
rs911663426
|
|
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser)
|
rs930768406
|
|
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
|
rs758784300
|
|
NM_003002.4(SDHD):c.357C>T (p.Ala119=)
|
rs2135277494
|
|
NM_003002.4(SDHD):c.35G>T (p.Gly12Val)
|
rs764384503
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.363G>A (p.Gln121=)
|
rs2135277509
|
|
NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)
|
|
|
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.370G>A (p.Ala124Thr)
|
rs1865811145
|
|
NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)
|
|
|
NM_003002.4(SDHD):c.371C>T (p.Ala124Val)
|
rs1865811210
|
|
NM_003002.4(SDHD):c.372C>G (p.Ala124=)
|
rs2135277535
|
|
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
|
rs1592786256
|
|
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
|
|
|
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr)
|
rs1592786265
|
|
NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)
|
|
|
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)
|
|
|
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
|
|
|
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr)
|
rs940936212
|
|
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser)
|
rs940936212
|
|
NM_003002.4(SDHD):c.380G>A (p.Gly127Glu)
|
|
|
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
|
|
|
NM_003002.4(SDHD):c.381del (p.Leu128fs)
|
rs1555187601
|
|
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)
|
rs201726097
|
|
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)
|
rs201726097
|
|
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser)
|
rs1312671864
|
|
NM_003002.4(SDHD):c.388dup (p.Ala130fs)
|
rs1131691063
|
|
NM_003002.4(SDHD):c.389C>G (p.Ala130Gly)
|
rs1049692537
|
|
NM_003002.4(SDHD):c.389C>T (p.Ala130Val)
|
|
|
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly)
|
rs750080041
|
|
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
|
|
|
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
|
|
|
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala)
|
rs2135277611
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.396A>C (p.Ser132=)
|
rs2135277619
|
|
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro)
|
rs1060503774
|
|
NM_003002.4(SDHD):c.398C>G (p.Ala133Gly)
|
|
|
NM_003002.4(SDHD):c.39C>T (p.Ala13=)
|
rs1566690237
|
|
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.404C>T (p.Thr135Ile)
|
rs2135277637
|
|
NM_003002.4(SDHD):c.405C>T (p.Thr135=)
|
rs1555187606
|
|
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)
|
|
|
NM_003002.4(SDHD):c.409G>A (p.Ala137Thr)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro)
|
rs1555187611
|
|
NM_003002.4(SDHD):c.40C>T (p.Leu14=)
|
rs1060503772
|
|
NM_003002.4(SDHD):c.410C>T (p.Ala137Val)
|
rs749250498
|
|
NM_003002.4(SDHD):c.411T>C (p.Ala137=)
|
rs1298909305
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.414G>A (p.Gly138=)
|
rs1174448545
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr)
|
rs2135277691
|
|
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu)
|
rs2135277712
|
|
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
|
|
|
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)
|
rs1865812863
|
|
NM_003002.4(SDHD):c.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.430_435del (p.Tyr144_His145del)
|
|
|
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)
|
rs745732631
|
|
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)
|
|
|
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr)
|
rs1592786384
|
|
NM_003002.4(SDHD):c.439G>A (p.Val147Met)
|
rs1865813583
|
|
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
|
rs1476121898
|
|
NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)
|
|
|
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)
|
rs1865813813
|
|
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser)
|
rs1295620545
|
|
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)
|
|
|
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
|
|
|
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)
|
rs1865621392
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
NM_003002.4(SDHD):c.450C>T (p.Cys150=)
|
rs201337439
|
|
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn)
|
rs761953172
|
|
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr)
|
rs1865814160
|
|
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
|
rs1592786423
|
|
NM_003002.4(SDHD):c.458T>C (p.Val153Ala)
|
rs1555187644
|
|
NM_003002.4(SDHD):c.45A>T (p.Gly15=)
|
rs2135264801
|
|
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)
|
|
|
NM_003002.4(SDHD):c.463A>G (p.Met155Val)
|
rs2135277828
|
|
NM_003002.4(SDHD):c.464T>C (p.Met155Thr)
|
|
|
NM_003002.4(SDHD):c.466C>G (p.Leu156Val)
|
|
|
NM_003002.4(SDHD):c.466C>T (p.Leu156=)
|
rs2135277839
|
|
NM_003002.4(SDHD):c.468G>A (p.Leu156=)
|
rs2135277845
|
|
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)
|
rs1555186687
|
|
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)
|
rs878854596
|
|
NM_003002.4(SDHD):c.474G>T (p.Lys158Asn)
|
rs1377208267
|
|
NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe)
|
|
|
NM_003002.4(SDHD):c.476T>C (p.Leu159Pro)
|
rs2135277858
|
|
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
|
|
|
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg)
|
rs1555187655
|
|
NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)
|
|
|
NM_003002.4(SDHD):c.479G>A (p.Ter160=)
|
rs201372601
|
|
NM_003002.4(SDHD):c.479G>C (p.Ter160Ser)
|
|
|
NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)
|
|
|
NM_003002.4(SDHD):c.47G>T (p.Gly16Val)
|
|
|
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp)
|
rs587778663
|
|
NM_003002.4(SDHD):c.480A>T (p.Ter160Cys)
|
|
|
NM_003002.4(SDHD):c.48C>T (p.Gly16=)
|
rs1555186688
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
|
rs1401420432
|
|
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln)
|
rs1865621723
|
|
NM_003002.4(SDHD):c.51A>C (p.Arg17=)
|
rs199890548
|
|
NM_003002.4(SDHD):c.52+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+1G>A
|
rs1592777386
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.52+20T>C
|
|
|
NM_003002.4(SDHD):c.52+2T>C
|
rs587776644
|
|
NM_003002.4(SDHD):c.52+5G>A
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+5G>C
|
rs1592777393
|
|
NM_003002.4(SDHD):c.52+6G>A
|
rs1416678757
|
|
NM_003002.4(SDHD):c.52+7G>C
|
rs2135264872
|
|
NM_003002.4(SDHD):c.52+8del
|
rs2135264855
|
|
NM_003002.4(SDHD):c.52+8dup
|
rs2135264855
|
|
NM_003002.4(SDHD):c.53-10_53-9del
|
|
|
NM_003002.4(SDHD):c.53-11T>C
|
|
|
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.53-16A>G
|
rs915385437
|
|
NM_003002.4(SDHD):c.53-17A>G
|
rs1166658454
|
|
NM_003002.4(SDHD):c.53-18T>C
|
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
NM_003002.4(SDHD):c.53-20C>T
|
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
NM_003002.4(SDHD):c.53-3C>T
|
|
|
NM_003002.4(SDHD):c.53-52_53-49del
|
rs562618773
|
|
NM_003002.4(SDHD):c.53-5C>T
|
rs913670110
|
|
NM_003002.4(SDHD):c.53-6C>A
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-6C>T
|
rs757454290
|
|
NM_003002.4(SDHD):c.53-7T>C
|
|
|
NM_003002.4(SDHD):c.53-7_53-3del
|
rs1865650219
|
|
NM_003002.4(SDHD):c.53-8_53-7del
|
rs765322445
|
|
NM_003002.4(SDHD):c.53-9_53-6del
|
rs1592778629
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.57G>A (p.Leu19=)
|
rs560625389
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
NM_003002.4(SDHD):c.58T>A (p.Leu20Met)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.58T>C (p.Leu20=)
|
rs1298878168
|
|
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)
|
rs1440670464
|
|
NM_003002.4(SDHD):c.60G>A (p.Leu20=)
|
rs2135266996
|
|
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe)
|
rs1592778703
|
|
NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)
|
|
|
NM_003002.4(SDHD):c.64C>A (p.Arg22=)
|
rs104894306
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.65G>A (p.Arg22Gln)
|
rs1555186772
|
|
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)
|
|
|
NM_003002.4(SDHD):c.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.70C>T (p.Pro24Ser)
|
rs775986509
|
|
NM_003002.4(SDHD):c.71C>T (p.Pro24Leu)
|
rs1865651909
|
|
NM_003002.4(SDHD):c.72A>C (p.Pro24=)
|
rs1413100881
|
|
NM_003002.4(SDHD):c.73G>T (p.Val25Leu)
|
rs878854597
|
|
NM_003002.4(SDHD):c.75G>A (p.Val25=)
|
|
|
NM_003002.4(SDHD):c.78C>T (p.Val26=)
|
|
|
NM_003002.4(SDHD):c.7G>A (p.Val3Ile)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>C (p.Val3Leu)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.7G>T (p.Val3Phe)
|
rs1555186656
|
|
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)
|
rs541477171
|
|
NM_003002.4(SDHD):c.83C>A (p.Pro28His)
|
rs2135267114
|
|
NM_003002.4(SDHD):c.84T>C (p.Pro28=)
|
rs2135267119
|
|
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)
|
|
|
NM_003002.4(SDHD):c.86C>T (p.Ala29Val)
|
rs1555186774
|
|
NM_003002.4(SDHD):c.90T>C (p.His30=)
|
|
|
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
|
rs1865653068
|
|
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)
|
|
|
NM_003002.4(SDHD):c.93C>T (p.Ile31=)
|
rs766096986
|
|
NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)
|
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003002.4(SDHD):c.95C>T (p.Ser32Leu)
|
rs104894305
|
|
NM_003002.4(SDHD):c.97G>A (p.Ala33Thr)
|
rs2135267174
|
|
NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)
|
|
|
NM_003002.4(SDHD):c.99A>G (p.Ala33=)
|
rs2135267182
|
|
NM_003002.4(SDHD):c.9T>A (p.Val3=)
|
rs1555186657
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
NM_004168.4(SDHA):c.1005G>A (p.Lys335=)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
NM_004168.4(SDHA):c.1008C>T (p.Asp336=)
|
|
|
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)
|
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
NM_004168.4(SDHA):c.1014G>T (p.Ala338=)
|
rs201341132
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
NM_004168.4(SDHA):c.1020A>G (p.Arg340=)
|
rs2126577996
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
NM_004168.4(SDHA):c.1026G>A (p.Val342=)
|
rs1060505004
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
NM_004168.4(SDHA):c.1029G>A (p.Val343=)
|
|
|
NM_004168.4(SDHA):c.102C>T (p.His34=)
|
rs2126539644
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
NM_004168.4(SDHA):c.1038C>A (p.Ser346=)
|
rs1041949
|
|
NM_004168.4(SDHA):c.1038C>T (p.Ser346=)
|
rs1041949
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
NM_004168.4(SDHA):c.1044T>A (p.Thr348=)
|
rs1553999055
|
|
NM_004168.4(SDHA):c.1045C>T (p.Leu349=)
|
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1053C>A (p.Ile351=)
|
rs2126578352
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
NM_004168.4(SDHA):c.1056A>C (p.Arg352=)
|
rs779804839
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
NM_004168.4(SDHA):c.1059A>G (p.Glu353=)
|
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
|
NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
NM_004168.4(SDHA):c.1064+5GT[3]
|
rs2126578488
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
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.1064G>C (p.Arg355Thr)
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
NM_004168.4(SDHA):c.1065-10G>C
|
rs2126584071
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
NM_004168.4(SDHA):c.1065-12C>G
|
|
|
NM_004168.4(SDHA):c.1065-12_1065-11del
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
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>A
|
|
|
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.1065-8C>G
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
NM_004168.4(SDHA):c.1071T>C (p.Cys357=)
|
rs1553999410
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
NM_004168.4(SDHA):c.1074C>T (p.Gly358=)
|
rs1421396049
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
NM_004168.4(SDHA):c.1083A>G (p.Lys361=)
|
rs1579406203
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
NM_004168.4(SDHA):c.1086T>C (p.Asp362=)
|
rs2126584236
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
NM_004168.4(SDHA):c.108T>C (p.Thr36=)
|
rs1301747916
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
NM_004168.4(SDHA):c.1092C>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.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)
|
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
NM_004168.4(SDHA):c.1104G>A (p.Leu368=)
|
rs2126584401
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1111C>T (p.Leu371=)
|
rs1735690368
|
|
NM_004168.4(SDHA):c.1113A>G (p.Leu371=)
|
rs2126584480
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
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.1120G>C (p.Glu374Gln)
|
|
|
NM_004168.4(SDHA):c.1122G>A (p.Glu374=)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
NM_004168.4(SDHA):c.1126C>T (p.Leu376=)
|
rs1579406388
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
NM_004168.4(SDHA):c.1131C>T (p.Ala377=)
|
rs2126584661
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
NM_004168.4(SDHA):c.1134G>C (p.Thr378=)
|
rs370002515
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
NM_004168.4(SDHA):c.1140G>A (p.Leu380=)
|
rs146348714
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
NM_004168.4(SDHA):c.1143T>C (p.Pro381=)
|
rs1735695108
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
NM_004168.4(SDHA):c.114T>C (p.Asp38=)
|
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
NM_004168.4(SDHA):c.1152A>T (p.Ser384=)
|
rs2126584840
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
NM_004168.4(SDHA):c.1158A>C (p.Thr386=)
|
rs2126584886
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
NM_004168.4(SDHA):c.1167C>T (p.Ile389=)
|
rs2126584963
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
NM_004168.4(SDHA):c.1173T>C (p.Ala391=)
|
rs1579406627
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
NM_004168.4(SDHA):c.1176C>A (p.Gly392=)
|
rs1041950
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_004168.4(SDHA):c.1185C>G (p.Val395=)
|
rs2126585130
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
NM_004168.4(SDHA):c.1197G>T (p.Pro399=)
|
rs771919335
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
NM_004168.4(SDHA):c.1200C>T (p.Ile400=)
|
rs748383004
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
NM_004168.4(SDHA):c.1203T>C (p.Pro401=)
|
rs1553999484
|
|
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)
|
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
NM_004168.4(SDHA):c.1206C>G (p.Val402=)
|
|
|
NM_004168.4(SDHA):c.1206C>T (p.Val402=)
|
rs1183961449
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
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>A (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.120C>T (p.Asn40=)
|
rs1579379803
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004168.4(SDHA):c.1212C>A (p.Pro404=)
|
rs1579406812
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
NM_004168.4(SDHA):c.1221T>C (p.His407=)
|
rs2126585516
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_004168.4(SDHA):c.1227C>T (p.Asn409=)
|
rs2126585562
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
NM_004168.4(SDHA):c.1233C>A (p.Gly411=)
|
rs376530094
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)
|
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
NM_004168.4(SDHA):c.123G>A (p.Lys41=)
|
rs1553997185
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
NM_004168.4(SDHA):c.1245C>G (p.Thr415=)
|
rs2126585715
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
NM_004168.4(SDHA):c.1257G>T (p.Gly419=)
|
rs753410011
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
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+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+23dup
|
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
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.1260G>A (p.Gln420=)
|
|
|
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.1261-1G>A
|
rs1735779936
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
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>A
|
rs1553999698
|
|
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.1270C>T (p.His424Tyr)
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
NM_004168.4(SDHA):c.1278T>C (p.Asn426=)
|
rs2126589395
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
NM_004168.4(SDHA):c.1290G>A (p.Gln430=)
|
rs772728779
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
NM_004168.4(SDHA):c.1293T>C (p.Ile431=)
|
rs1553999716
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
NM_004168.4(SDHA):c.1296G>A (p.Val432=)
|
|
|
NM_004168.4(SDHA):c.1296G>T (p.Val432=)
|
rs1223308548
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
NM_004168.4(SDHA):c.12C>T (p.Val4=)
|
rs749406988
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
NM_004168.4(SDHA):c.1302C>T (p.Gly434=)
|
rs1579409486
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
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.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
NM_004168.4(SDHA):c.1320G>A (p.Glu440=)
|
rs2126589773
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
NM_004168.4(SDHA):c.1323C>G (p.Ala441=)
|
rs751561561
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
NM_004168.4(SDHA):c.1326C>T (p.Ala442=)
|
rs2126589832
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
NM_004168.4(SDHA):c.1329T>C (p.Cys443=)
|
rs2126589870
|
|
NM_004168.4(SDHA):c.132T>A (p.Ser44=)
|
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
NM_004168.4(SDHA):c.1332C>G (p.Ala444=)
|
rs1060505011
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1335G>C (p.Ser445=)
|
|
|
NM_004168.4(SDHA):c.1335G>T (p.Ser445=)
|
rs200223188
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
NM_004168.4(SDHA):c.1341T>C (p.His447=)
|
rs2126589989
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
NM_004168.4(SDHA):c.1344T>A (p.Gly448=)
|
|
|
NM_004168.4(SDHA):c.1344T>C (p.Gly448=)
|
rs551497992
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1353C>T (p.Arg451=)
|
rs555342133
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
NM_004168.4(SDHA):c.1359G>A (p.Gly453=)
|
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
NM_004168.4(SDHA):c.1365C>T (p.Asn455=)
|
rs1579409853
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
NM_004168.4(SDHA):c.1368G>T (p.Ser456=)
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
NM_004168.4(SDHA):c.1371C>G (p.Leu457=)
|
rs75091805
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
NM_004168.4(SDHA):c.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.1384G>A (p.Val462Ile)
|
|
|
NM_004168.4(SDHA):c.1386C>G (p.Val462=)
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
NM_004168.4(SDHA):c.1389T>C (p.Phe463=)
|
rs2126590369
|
|
NM_004168.4(SDHA):c.138A>G (p.Lys46=)
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
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.1396G>C (p.Ala466Pro)
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
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.13C>G (p.Arg5Gly)
|
rs770866830
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
NM_004168.4(SDHA):c.141T>C (p.Val47=)
|
rs748490907
|
|
NM_004168.4(SDHA):c.141T>G (p.Val47=)
|
rs748490907
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
NM_004168.4(SDHA):c.1422A>G (p.Ser474=)
|
rs201868424
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
NM_004168.4(SDHA):c.1432+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+1G>A
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+20G>A
|
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
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.1432G>C (p.Gly478Arg)
|
|
|
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.1433-2A>G
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
NM_004168.4(SDHA):c.1433-3del
|
rs2126602411
|
|
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.1433-8del
|
|
|
NM_004168.4(SDHA):c.1433-8dup
|
rs769594966
|
|
NM_004168.4(SDHA):c.1433-9T>C
|
rs1579417426
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
NM_004168.4(SDHA):c.1443C>A (p.Val481=)
|
rs751871185
|
|
NM_004168.4(SDHA):c.1443C>T (p.Val481=)
|
rs751871185
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
NM_004168.4(SDHA):c.1446T>G (p.Pro482=)
|
rs767646499
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
NM_004168.4(SDHA):c.144A>G (p.Ser48=)
|
|
|
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)
|
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
NM_004168.4(SDHA):c.1458A>G (p.Pro486=)
|
rs2126602561
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
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.1480A>G (p.Met494Val)
|
rs1579417628
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1498A>C (p.Arg500=)
|
rs2126602800
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.150+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+17dup
|
rs1734837730
|
|
NM_004168.4(SDHA):c.150+18G>A
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
NM_004168.4(SDHA):c.150+21_150+25del
|
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
NM_004168.4(SDHA):c.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.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
NM_004168.4(SDHA):c.1506T>C (p.Ala502=)
|
rs1364448678
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
NM_004168.4(SDHA):c.1509T>C (p.Asp503=)
|
rs2126602858
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
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.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.151-20G>C
|
rs2126542228
|
|
NM_004168.4(SDHA):c.151-20G>T
|
rs2126542228
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
NM_004168.4(SDHA):c.151-6T>C
|
|
|
NM_004168.4(SDHA):c.151-8T>C
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
NM_004168.4(SDHA):c.151-9_151-7del
|
rs2126542243
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
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.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
NM_004168.4(SDHA):c.1548G>A (p.Gln516=)
|
rs2126603098
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
NM_004168.4(SDHA):c.1551+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+1G>A
|
rs759806010
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
NM_004168.4(SDHA):c.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.1552-10T>G
|
rs1736784473
|
|
NM_004168.4(SDHA):c.1552-12T>C
|
rs2126631871
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
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.1552-1G>C
|
|
|
NM_004168.4(SDHA):c.1552-20A>C
|
rs1378314484
|
|
NM_004168.4(SDHA):c.1552-20A>G
|
rs1378314484
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
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.1552T>A (p.Ser518Thr)
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
NM_004168.4(SDHA):c.1560A>G (p.Gln520=)
|
rs1261025402
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
NM_004168.4(SDHA):c.1569T>A (p.Ala523=)
|
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1572C>G (p.Ala524=)
|
rs185679709
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1578C>T (p.Phe526=)
|
rs2126632042
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1581T>C (p.Arg527=)
|
rs2126632074
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1584G>C (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1584G>T (p.Val528=)
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
NM_004168.4(SDHA):c.1593G>A (p.Val531=)
|
rs2126632110
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
NM_004168.4(SDHA):c.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.1600G>A (p.Glu534Lys)
|
|
|
NM_004168.4(SDHA):c.1602A>G (p.Glu534=)
|
rs2126632157
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
NM_004168.4(SDHA):c.1614A>G (p.Lys538=)
|
rs1554001847
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
NM_004168.4(SDHA):c.1617C>T (p.Ile539=)
|
rs2126632215
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)
|
|
|
NM_004168.4(SDHA):c.1626C>T (p.Leu542=)
|
rs1269358534
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
NM_004168.4(SDHA):c.1638A>C (p.Leu546=)
|
rs1041963
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
NM_004168.4(SDHA):c.1641G>A (p.Lys547=)
|
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
NM_004168.4(SDHA):c.1645C>T (p.Leu549=)
|
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
NM_004168.4(SDHA):c.1650G>A (p.Lys550=)
|
rs1359705251
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)
|
|
|
NM_004168.4(SDHA):c.1660C>A (p.Arg554=)
|
rs9809219
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
NM_004168.4(SDHA):c.1663+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+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
NM_004168.4(SDHA):c.1663+7A>G
|
rs1579438260
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
NM_004168.4(SDHA):c.1664-10G>T
|
rs1736810726
|
|
NM_004168.4(SDHA):c.1664-11del
|
rs1561010692
|
|
NM_004168.4(SDHA):c.1664-19G>A
|
rs2126633052
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
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.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
NM_004168.4(SDHA):c.1671C>G (p.Val557=)
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
NM_004168.4(SDHA):c.1677C>T (p.Asn559=)
|
rs2126633167
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
NM_004168.4(SDHA):c.1680G>T (p.Thr560=)
|
rs1139449
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1684C>T (p.Leu562=)
|
rs1561010740
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
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.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
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.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
NM_004168.4(SDHA):c.1692G>A (p.Glu564=)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
NM_004168.4(SDHA):c.1725G>T (p.Ala575=)
|
rs758252610
|
|
NM_004168.4(SDHA):c.1728G>A (p.Leu576=)
|
rs1736819188
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
NM_004168.4(SDHA):c.1737C>A (p.Ile579=)
|
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
NM_004168.4(SDHA):c.1746A>T (p.Ala582=)
|
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
NM_004168.4(SDHA):c.1758G>A (p.Lys586=)
|
rs1554001953
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
NM_004168.4(SDHA):c.1761G>A (p.Glu587=)
|
rs2126633619
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
NM_004168.4(SDHA):c.1764A>G (p.Ser588=)
|
rs2126633642
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
NM_004168.4(SDHA):c.1765C>A (p.Arg589=)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
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.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=)
|
rs1226155499
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
NM_004168.4(SDHA):c.1794+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+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1794+20C>A
|
rs2126633960
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
NM_004168.4(SDHA):c.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.1794G>A (p.Lys598=)
|
rs1554001975
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1795-5C>T
|
rs1169912956
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
NM_004168.4(SDHA):c.1797G>A (p.Val599=)
|
rs1060505012
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
NM_004168.4(SDHA):c.1806T>C (p.Asp602=)
|
rs1554002427
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)
|
rs1436919553
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
NM_004168.4(SDHA):c.1827C>T (p.Pro609=)
|
rs1060505006
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
NM_004168.4(SDHA):c.1842G>A (p.Gln614=)
|
rs2126641413
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
NM_004168.4(SDHA):c.1845G>A (p.Lys615=)
|
rs1442827207
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
NM_004168.4(SDHA):c.1857G>A (p.Glu619=)
|
rs1247081812
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
NM_004168.4(SDHA):c.1875C>T (p.His625=)
|
rs1579445214
|
|
NM_004168.4(SDHA):c.1878C>T (p.Thr626=)
|
rs1579445226
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
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.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004168.4(SDHA):c.1896T>C (p.Val632=)
|
rs1554002492
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
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.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
NM_004168.4(SDHA):c.1902T>G (p.Thr634=)
|
rs2126641691
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
NM_004168.4(SDHA):c.1908+10G>A
|
rs1579445450
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
NM_004168.4(SDHA):c.1908+8T>G
|
rs2126641731
|
|
NM_004168.4(SDHA):c.1908+9G>A
|
rs767578208
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
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.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.1909-20C>A
|
rs1737178548
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
NM_004168.4(SDHA):c.1909-6T>C
|
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
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.1909G>A (p.Val637Ile)
|
rs769599373
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
NM_004168.4(SDHA):c.1914T>C (p.Thr638=)
|
rs2126645757
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004168.4(SDHA):c.1920A>G (p.Glu640=)
|
rs2126645771
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
NM_004168.4(SDHA):c.1926A>G (p.Arg642=)
|
rs1554002873
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
NM_004168.4(SDHA):c.192A>G (p.Ala64=)
|
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
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.193G>T (p.Val65Leu)
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
NM_004168.4(SDHA):c.1953G>A (p.Glu651=)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
NM_004168.4(SDHA):c.1956T>C (p.Ala652=)
|
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)
|
|
|
NM_004168.4(SDHA):c.195G>A (p.Val65=)
|
rs2126542556
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
NM_004168.4(SDHA):c.1986C>G (p.Arg662=)
|
rs762372686
|
|
NM_004168.4(SDHA):c.1986C>T (p.Arg662=)
|
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
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.1990T>C (p.Tyr664His)
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
NM_004168.4(SDHA):c.210A>G (p.Gly70=)
|
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
NM_004168.4(SDHA):c.216A>G (p.Ala72=)
|
rs1734887844
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
NM_004168.4(SDHA):c.220T>C (p.Leu74=)
|
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
NM_004168.4(SDHA):c.240T>C (p.Leu80=)
|
rs2126542884
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.243T>C (p.Ser81=)
|
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
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.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
NM_004168.4(SDHA):c.252G>A (p.Gly84=)
|
rs753293451
|
|
NM_004168.4(SDHA):c.252G>C (p.Gly84=)
|
rs753293451
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
NM_004168.4(SDHA):c.261A>C (p.Thr87=)
|
|
|
NM_004168.4(SDHA):c.261A>G (p.Thr87=)
|
rs2126543070
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
NM_004168.4(SDHA):c.264A>G (p.Ala88=)
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
NM_004168.4(SDHA):c.273C>A (p.Thr91=)
|
rs2126543162
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
NM_004168.4(SDHA):c.276G>A (p.Lys92=)
|
rs375298039
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
NM_004168.4(SDHA):c.279G>A (p.Leu93=)
|
rs1579381802
|
|
NM_004168.4(SDHA):c.27G>A (p.Arg9=)
|
rs2126522501
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.285T>C (p.Pro95=)
|
rs2126543225
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
NM_004168.4(SDHA):c.28C>T (p.Leu10=)
|
rs879099314
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
NM_004168.4(SDHA):c.291G>A (p.Arg97=)
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
NM_004168.4(SDHA):c.297C>T (p.His99=)
|
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
NM_004168.4(SDHA):c.303T>C (p.Val101=)
|
|
|
NM_004168.4(SDHA):c.303T>G (p.Val101=)
|
rs2126543357
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
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.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
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+1G>A
|
rs2126543441
|
|
NM_004168.4(SDHA):c.312+20C>A
|
rs111533078
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
NM_004168.4(SDHA):c.312+7G>C
|
rs2126543454
|
|
NM_004168.4(SDHA):c.312+7G>T
|
rs2126543454
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
NM_004168.4(SDHA):c.313-10G>A
|
rs1579383848
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
NM_004168.4(SDHA):c.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.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
NM_004168.4(SDHA):c.318A>T (p.Gly106=)
|
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
NM_004168.4(SDHA):c.31C>T (p.Leu11=)
|
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
NM_004168.4(SDHA):c.336G>A (p.Gly112=)
|
|
|
NM_004168.4(SDHA):c.336G>C (p.Gly112=)
|
rs375645919
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
NM_004168.4(SDHA):c.339C>T (p.Asn113=)
|
|
|
NM_004168.4(SDHA):c.33G>T (p.Leu11=)
|
rs1139423
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
NM_004168.4(SDHA):c.345G>A (p.Glu115=)
|
rs368286780
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
NM_004168.4(SDHA):c.348G>A (p.Glu116=)
|
rs2126546824
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
NM_004168.4(SDHA):c.351C>T (p.Asp117=)
|
rs1579384072
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
NM_004168.4(SDHA):c.354C>T (p.Asn118=)
|
rs923803277
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
NM_004168.4(SDHA):c.387C>T (p.Gly129=)
|
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
NM_004168.4(SDHA):c.39T>C (p.Ala13=)
|
rs2126522607
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
NM_004168.4(SDHA):c.40C>A (p.Arg14=)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
NM_004168.4(SDHA):c.414C>T (p.Ala138=)
|
rs1219265195
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
NM_004168.4(SDHA):c.420C>T (p.His140=)
|
rs747232441
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
NM_004168.4(SDHA):c.429G>T (p.Thr143=)
|
rs906281170
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
NM_004168.4(SDHA):c.441C>A (p.Pro147=)
|
rs201453889
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
NM_004168.4(SDHA):c.444C>G (p.Ala148=)
|
rs367618662
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
NM_004168.4(SDHA):c.447C>A (p.Ala149=)
|
|
|
NM_004168.4(SDHA):c.447C>G (p.Ala149=)
|
rs752187837
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
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.454G>C (p.Glu152Gln)
|
rs778737664
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
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+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+20G>A
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
NM_004168.4(SDHA):c.456+8G>A
|
rs2126547879
|
|
NM_004168.4(SDHA):c.456+9C>G
|
rs200565489
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
NM_004168.4(SDHA):c.457-10T>C
|
|
|
NM_004168.4(SDHA):c.457-11A>T
|
|
|
NM_004168.4(SDHA):c.457-12del
|
rs2126549133
|
|
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.457-1G>A
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
NM_004168.4(SDHA):c.457-9C>T
|
rs2126549145
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
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.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
NM_004168.4(SDHA):c.468T>C (p.Tyr156=)
|
rs989318548
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
NM_004168.4(SDHA):c.46C>T (p.Leu16=)
|
rs1579369903
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
NM_004168.4(SDHA):c.477G>T (p.Pro159=)
|
rs771741537
|
|
NM_004168.4(SDHA):c.480T>C (p.Phe160=)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
NM_004168.4(SDHA):c.483C>T (p.Ser161=)
|
rs2126549418
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
NM_004168.4(SDHA):c.486A>G (p.Arg162=)
|
rs1479127918
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
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.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
NM_004168.4(SDHA):c.498G>A (p.Gly166=)
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
NM_004168.4(SDHA):c.513T>A (p.Arg171=)
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
NM_004168.4(SDHA):c.525A>G (p.Gly175=)
|
rs2126549734
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
NM_004168.4(SDHA):c.52C>T (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
NM_004168.4(SDHA):c.531C>T (p.Ser177=)
|
rs756351128
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
NM_004168.4(SDHA):c.537G>A (p.Lys179=)
|
rs1207914111
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
NM_004168.4(SDHA):c.540T>C (p.Phe180=)
|
rs2126549842
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
NM_004168.4(SDHA):c.54G>A (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.54G>T (p.Leu18=)
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
NM_004168.4(SDHA):c.562C>A (p.Arg188=)
|
rs553257776
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
NM_004168.4(SDHA):c.570C>T (p.Cys190=)
|
rs1060505008
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
NM_004168.4(SDHA):c.573T>C (p.Cys191=)
|
rs765111856
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
NM_004168.4(SDHA):c.57C>T (p.Ala19=)
|
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
NM_004168.4(SDHA):c.582T>C (p.Asp194=)
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.585G>A (p.Arg195=)
|
rs766339992
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
NM_004168.4(SDHA):c.588T>C (p.Thr196=)
|
rs1278276778
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
NM_004168.4(SDHA):c.591C>G (p.Gly197=)
|
|
|
NM_004168.4(SDHA):c.594C>T (p.His198=)
|
rs1579386061
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
NM_004168.4(SDHA):c.597G>T (p.Ser199=)
|
rs141874250
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
NM_004168.4(SDHA):c.603G>A (p.Leu201=)
|
rs2126550482
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
NM_004168.4(SDHA):c.606C>T (p.His202=)
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
NM_004168.4(SDHA):c.60G>A (p.Lys20=)
|
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
NM_004168.4(SDHA):c.612A>G (p.Leu204=)
|
rs1735001336
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.615T>C (p.Tyr205=)
|
rs876658486
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
NM_004168.4(SDHA):c.621+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+1G>A
|
rs1735002961
|
|
NM_004168.4(SDHA):c.621+20C>T
|
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
NM_004168.4(SDHA):c.621+9G>C
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
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.622T>C (p.Ser208Pro)
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
NM_004168.4(SDHA):c.63+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+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
NM_004168.4(SDHA):c.63+8C>A
|
rs766358430
|
|
NM_004168.4(SDHA):c.63+9G>A
|
rs751401688
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.630A>T (p.Arg210=)
|
rs1579390913
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
NM_004168.4(SDHA):c.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.64-16T>G
|
|
|
NM_004168.4(SDHA):c.64-17G>A
|
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.64-4C>T
|
|
|
NM_004168.4(SDHA):c.64-7T>C
|
rs1579379588
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
NM_004168.4(SDHA):c.64-8G>T
|
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)
|
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
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.664T>G (p.Leu222Val)
|
rs1553998191
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
NM_004168.4(SDHA):c.666G>A (p.Leu222=)
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
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.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
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.676A>T (p.Met226Leu)
|
rs1579391135
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
NM_004168.4(SDHA):c.687G>C (p.Gly229=)
|
rs775359678
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.693C>T (p.Cys231=)
|
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
NM_004168.4(SDHA):c.696T>G (p.Arg232=)
|
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
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.700G>A (p.Val234Ile)
|
rs2126558764
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
NM_004168.4(SDHA):c.711G>T (p.Leu237=)
|
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
NM_004168.4(SDHA):c.714C>T (p.Cys238=)
|
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
NM_004168.4(SDHA):c.717A>T (p.Ile239=)
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
NM_004168.4(SDHA):c.720G>A (p.Glu240=)
|
rs1579391431
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.726G>A (p.Gly242=)
|
rs2126559012
|
|
NM_004168.4(SDHA):c.726G>T (p.Gly242=)
|
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
NM_004168.4(SDHA):c.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.733C>G (p.His245Asp)
|
rs1060503716
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
NM_004168.4(SDHA):c.738C>T (p.Arg246=)
|
rs2126559157
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
NM_004168.4(SDHA):c.747A>G (p.Ala249=)
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
NM_004168.4(SDHA):c.750G>A (p.Lys250=)
|
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
NM_004168.4(SDHA):c.753C>T (p.Asn251=)
|
rs1126411
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
NM_004168.4(SDHA):c.75G>A (p.Val25=)
|
rs774378936
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
NM_004168.4(SDHA):c.768A>C (p.Thr256=)
|
rs2126559341
|
|
NM_004168.4(SDHA):c.768A>T (p.Thr256=)
|
rs2126559341
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
NM_004168.4(SDHA):c.770+10T>G
|
rs1579391739
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
NM_004168.4(SDHA):c.770+7A>C
|
rs770997653
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004168.4(SDHA):c.771-4C>G
|
rs1360537551
|
|
NM_004168.4(SDHA):c.771-5T>C
|
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
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.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
NM_004168.4(SDHA):c.780G>A (p.Gly260=)
|
|
|
NM_004168.4(SDHA):c.783C>T (p.Arg261=)
|
rs1037927856
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
NM_004168.4(SDHA):c.786C>T (p.Thr262=)
|
rs1560992315
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
NM_004168.4(SDHA):c.789C>T (p.Tyr263=)
|
rs1553998616
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
NM_004168.4(SDHA):c.792C>T (p.Phe264=)
|
rs1237513803
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
NM_004168.4(SDHA):c.795C>T (p.Ser265=)
|
rs1579397171
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
NM_004168.4(SDHA):c.798C>T (p.Cys266=)
|
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
NM_004168.4(SDHA):c.807C>A (p.Ala269=)
|
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
NM_004168.4(SDHA):c.810C>T (p.His270=)
|
rs1199457341
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
NM_004168.4(SDHA):c.813C>A (p.Thr271=)
|
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
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.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
NM_004168.4(SDHA):c.828C>A (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.834C>T (p.Ala278=)
|
rs1553998649
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
NM_004168.4(SDHA):c.846G>A (p.Arg282=)
|
rs1579397464
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
NM_004168.4(SDHA):c.84A>G (p.Thr28=)
|
rs1553997162
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
NM_004168.4(SDHA):c.861C>T (p.Cys287=)
|
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
NM_004168.4(SDHA):c.867C>T (p.Asp289=)
|
|
|
NM_004168.4(SDHA):c.868C>T (p.Leu290=)
|
rs2126568639
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
NM_004168.4(SDHA):c.873G>A (p.Glu291=)
|
rs570393010
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.882G>A (p.Gln294=)
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
NM_004168.4(SDHA):c.888C>T (p.His296=)
|
rs1553998666
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
NM_004168.4(SDHA):c.891T>G (p.Pro297=)
|
rs1126417
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
NM_004168.4(SDHA):c.895+9G>A
|
rs1579397653
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
NM_004168.4(SDHA):c.896-5del
|
rs751123858
|
|
NM_004168.4(SDHA):c.897C>T (p.Gly299=)
|
rs1484385016
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
NM_004168.4(SDHA):c.90C>G (p.Thr30=)
|
rs2126539545
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
NM_004168.4(SDHA):c.918C>A (p.Leu306=)
|
rs138828792
|
|
NM_004168.4(SDHA):c.918C>T (p.Leu306=)
|
rs138828792
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
NM_004168.4(SDHA):c.921T>C (p.Ile307=)
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
NM_004168.4(SDHA):c.930A>C (p.Gly310=)
|
rs1579402124
|
|
NM_004168.4(SDHA):c.933T>C (p.Cys311=)
|
rs764026731
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
NM_004168.4(SDHA):c.936T>G (p.Arg312=)
|
rs2126577072
|
|
NM_004168.4(SDHA):c.939A>C (p.Gly313=)
|
rs1579402154
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
NM_004168.4(SDHA):c.942G>A (p.Glu314=)
|
rs1553998977
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
NM_004168.4(SDHA):c.957T>A (p.Ile319=)
|
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
NM_004168.4(SDHA):c.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.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
NM_004168.4(SDHA):c.978T>C (p.Phe326=)
|
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
NM_004168.4(SDHA):c.984G>A (p.Glu328=)
|
rs1735555420
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
NM_004168.4(SDHA):c.993C>T (p.Ala331=)
|
rs1424925197
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_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.99_108del (p.Phe33fs)
|
rs1734832099
|
|
NM_004168.4(SDHA):c.9G>A (p.Gly3=)
|
|
|
NM_004168.4(SDHA):c.9G>C (p.Gly3=)
|
rs1252447154
|
|
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
|
|
|
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
|
|
|
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
|
|
|
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
|
|
|
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
|
|
|
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
|
|
|
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
|
rs748973371
|
|
NM_013335.4(GMPPA):c.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.118del (p.His40fs)
|
|
|
NM_013335.4(GMPPA):c.12G>A (p.Ala4=)
|
rs1335428636
|
|
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
|
|
|
NM_013335.4(GMPPA):c.243-17C>T
|
|
|
NM_013335.4(GMPPA):c.41-16C>T
|
|
|
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)
|
rs1186293652
|
|
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
|
|
|
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.592T>C (p.Phe198Leu)
|
rs773715630
|
|
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_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
|
|
|
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
|
|
|
NM_017841.4(SDHAF2):c.100T>C (p.Phe34Leu)
|
rs756917732
|
|
NM_017841.4(SDHAF2):c.100T>G (p.Phe34Val)
|
rs756917732
|
|
NM_017841.4(SDHAF2):c.101T>C (p.Phe34Ser)
|
rs1862010056
|
|
NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His)
|
rs1590764776
|
|
NM_017841.4(SDHAF2):c.104A>C (p.Tyr35Ser)
|
rs1330914865
|
|
NM_017841.4(SDHAF2):c.109G>A (p.Gly37Ser)
|
|
|
NM_017841.4(SDHAF2):c.109G>T (p.Gly37Cys)
|
rs868016844
|
|
NM_017841.4(SDHAF2):c.10T>G (p.Ser4Ala)
|
rs1205348193
|
|
NM_017841.4(SDHAF2):c.112G>A (p.Asp38Asn)
|
|
|
NM_017841.4(SDHAF2):c.115A>G (p.Ser39Gly)
|
|
|
NM_017841.4(SDHAF2):c.116G>A (p.Ser39Asn)
|
rs2134892250
|
|
NM_017841.4(SDHAF2):c.119C>T (p.Pro40Leu)
|
|
|
NM_017841.4(SDHAF2):c.11C>T (p.Ser4Phe)
|
rs778449586
|
|
NM_017841.4(SDHAF2):c.122C>G (p.Thr41Arg)
|
rs747508289
|
|
NM_017841.4(SDHAF2):c.122C>T (p.Thr41Ile)
|
|
|
NM_017841.4(SDHAF2):c.124G>A (p.Asp42Asn)
|
rs2134892260
|
|
NM_017841.4(SDHAF2):c.124del (p.Asp42fs)
|
rs2134892263
|
|
NM_017841.4(SDHAF2):c.126T>C (p.Asp42=)
|
rs1590764790
|
|
NM_017841.4(SDHAF2):c.128C>T (p.Ser43Phe)
|
|
|
NM_017841.4(SDHAF2):c.12T>A (p.Ser4=)
|
rs2135436188
|
|
NM_017841.4(SDHAF2):c.12T>C (p.Ser4=)
|
|
|
NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter)
|
rs2134892271
|
|
NM_017841.4(SDHAF2):c.130_132del (p.Gln44del)
|
rs1590764793
|
|
NM_017841.4(SDHAF2):c.131A>C (p.Gln44Pro)
|
|
|
NM_017841.4(SDHAF2):c.131A>G (p.Gln44Arg)
|
|
|
NM_017841.4(SDHAF2):c.132A>G (p.Gln44=)
|
rs2134892277
|
|
NM_017841.4(SDHAF2):c.135G>A (p.Lys45=)
|
|
|
NM_017841.4(SDHAF2):c.136G>A (p.Asp46Asn)
|
rs1590764803
|
|
NM_017841.4(SDHAF2):c.138C>A (p.Asp46Glu)
|
|
|
NM_017841.4(SDHAF2):c.138C>G (p.Asp46Glu)
|
rs969049910
|
|
NM_017841.4(SDHAF2):c.138C>T (p.Asp46=)
|
rs969049910
|
|
NM_017841.4(SDHAF2):c.14C>T (p.Thr5Ile)
|
rs1861837207
|
|
NM_017841.4(SDHAF2):c.151C>T (p.Pro51Ser)
|
rs1862010801
|
|
NM_017841.4(SDHAF2):c.152C>T (p.Pro51Leu)
|
rs1371376884
|
|
NM_017841.4(SDHAF2):c.153T>A (p.Pro51=)
|
|
|
NM_017841.4(SDHAF2):c.153T>G (p.Pro51=)
|
rs769950627
|
|
NM_017841.4(SDHAF2):c.157C>A (p.Pro53Thr)
|
rs1060503390
|
|
NM_017841.4(SDHAF2):c.158C>G (p.Pro53Arg)
|
|
|
NM_017841.4(SDHAF2):c.158C>T (p.Pro53Leu)
|
rs562958122
|
|
NM_017841.4(SDHAF2):c.162A>G (p.Pro54=)
|
|
|
NM_017841.4(SDHAF2):c.170A>G (p.Glu57Gly)
|
rs2134892353
|
|
NM_017841.4(SDHAF2):c.171G>A (p.Glu57=)
|
rs767436409
|
|
NM_017841.4(SDHAF2):c.176C>T (p.Thr59Ile)
|
rs2134892362
|
|
NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)
|
rs1554984631
|
|
NM_017841.4(SDHAF2):c.178G>A (p.Asp60Asn)
|
|
|
NM_017841.4(SDHAF2):c.17T>C (p.Val6Ala)
|
rs1565125251
|
|
NM_017841.4(SDHAF2):c.17T>G (p.Val6Gly)
|
|
|
NM_017841.4(SDHAF2):c.180T>C (p.Asp60=)
|
rs2134892368
|
|
NM_017841.4(SDHAF2):c.181G>A (p.Glu61Lys)
|
rs1862011311
|
|
NM_017841.4(SDHAF2):c.184T>C (p.Ser62Pro)
|
|
|
NM_017841.4(SDHAF2):c.184T>G (p.Ser62Ala)
|
|
|
NM_017841.4(SDHAF2):c.18G>A (p.Val6=)
|
rs1590759621
|
|
NM_017841.4(SDHAF2):c.18G>C (p.Val6=)
|
|
|
NM_017841.4(SDHAF2):c.190G>A (p.Glu64Lys)
|
rs1565128535
|
|
NM_017841.4(SDHAF2):c.194C>G (p.Thr65Ser)
|
rs752462796
|
|
NM_017841.4(SDHAF2):c.195C>T (p.Thr65=)
|
rs2134892396
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.198A>G (p.Lys66=)
|
rs760482747
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)
|
rs949388785
|
|
NM_017841.4(SDHAF2):c.19T>C (p.Phe7Leu)
|
|
|
NM_017841.4(SDHAF2):c.19T>G (p.Phe7Val)
|
|
|
NM_017841.4(SDHAF2):c.200G>T (p.Arg67Ile)
|
|
|
NM_017841.4(SDHAF2):c.202G>A (p.Ala68Thr)
|
rs2134892420
|
|
NM_017841.4(SDHAF2):c.206G>T (p.Arg69Leu)
|
rs753474292
|
|
NM_017841.4(SDHAF2):c.208C>G (p.Leu70Val)
|
rs1862011903
|
|
NM_017841.4(SDHAF2):c.208_210delinsAGT (p.Leu70Ser)
|
rs2134892434
|
|
NM_017841.4(SDHAF2):c.20T>A (p.Phe7Tyr)
|
|
|
NM_017841.4(SDHAF2):c.212T>C (p.Leu71Pro)
|
|
|
NM_017841.4(SDHAF2):c.214T>C (p.Tyr72His)
|
|
|
NM_017841.4(SDHAF2):c.215A>T (p.Tyr72Phe)
|
|
|
NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter)
|
rs778397152
|
|
NM_017841.4(SDHAF2):c.216T>C (p.Tyr72=)
|
rs778397152
|
|
NM_017841.4(SDHAF2):c.218A>C (p.Glu73Ala)
|
rs1554984643
|
|
NM_017841.4(SDHAF2):c.21C>A (p.Phe7Leu)
|
|
|
NM_017841.4(SDHAF2):c.21C>T (p.Phe7=)
|
rs892955355
|
|
NM_017841.4(SDHAF2):c.220A>G (p.Ser74Gly)
|
rs2134892451
|
|
NM_017841.4(SDHAF2):c.222C>G (p.Ser74Arg)
|
rs749887667
|
|
NM_017841.4(SDHAF2):c.222C>T (p.Ser74=)
|
rs749887667
|
|
NM_017841.4(SDHAF2):c.224G>A (p.Arg75Lys)
|
|
|
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.228G>C (p.Lys76Asn)
|
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
NM_017841.4(SDHAF2):c.230G>A (p.Arg77Lys)
|
rs755511528
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu)
|
rs1590764905
|
|
NM_017841.4(SDHAF2):c.234A>G (p.Gly78=)
|
rs2134892495
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.238T>G (p.Leu80Val)
|
rs2134892506
|
|
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)
|
rs1254052531
|
|
NM_017841.4(SDHAF2):c.23C>T (p.Ser8Leu)
|
rs1254052531
|
|
NM_017841.4(SDHAF2):c.240G>C (p.Leu80Phe)
|
rs1223446048
|
|
NM_017841.4(SDHAF2):c.244A>G (p.Asn82Asp)
|
|
|
NM_017841.4(SDHAF2):c.246C>G (p.Asn82Lys)
|
rs1590764924
|
|
NM_017841.4(SDHAF2):c.247T>C (p.Cys83Arg)
|
|
|
NM_017841.4(SDHAF2):c.247T>G (p.Cys83Gly)
|
|
|
NM_017841.4(SDHAF2):c.249C>T (p.Cys83=)
|
rs2134892531
|
|
NM_017841.4(SDHAF2):c.24G>T (p.Ser8=)
|
rs764251580
|
|
NM_017841.4(SDHAF2):c.250A>G (p.Ile84Val)
|
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.260+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+1G>A
|
rs749527870
|
|
NM_017841.4(SDHAF2):c.260+25_260+26dup
|
rs768896122
|
|
NM_017841.4(SDHAF2):c.260+26del
|
rs768896122
|
|
NM_017841.4(SDHAF2):c.260+26dup
|
rs768896122
|
|
NM_017841.4(SDHAF2):c.260+2T>C
|
rs2134892557
|
|
NM_017841.4(SDHAF2):c.260+6G>A
|
rs2134892567
|
|
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.261-19_261-16del
|
|
|
NM_017841.4(SDHAF2):c.261-1G>T
|
|
|
NM_017841.4(SDHAF2):c.261-21_261-16del
|
rs773213740
|
|
NM_017841.4(SDHAF2):c.261-2A>T
|
rs745989557
|
|
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.263T>C (p.Leu88Pro)
|
|
|
NM_017841.4(SDHAF2):c.264T>G (p.Leu88=)
|
rs1554984669
|
|
NM_017841.4(SDHAF2):c.265T>G (p.Phe89Val)
|
|
|
NM_017841.4(SDHAF2):c.267del (p.Phe89fs)
|
rs766035180
|
|
NM_017841.4(SDHAF2):c.268G>C (p.Ala90Pro)
|
|
|
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val)
|
rs373951663
|
|
NM_017841.4(SDHAF2):c.26C>G (p.Thr9Ser)
|
|
|
NM_017841.4(SDHAF2):c.270T>C (p.Ala90=)
|
|
|
NM_017841.4(SDHAF2):c.271A>G (p.Lys91Glu)
|
rs1358923878
|
|
NM_017841.4(SDHAF2):c.273A>G (p.Lys91=)
|
|
|
NM_017841.4(SDHAF2):c.274G>A (p.Glu92Lys)
|
rs1862015494
|
|
NM_017841.4(SDHAF2):c.276A>C (p.Glu92Asp)
|
rs2134892782
|
|
NM_017841.4(SDHAF2):c.277C>T (p.His93Tyr)
|
|
|
NM_017841.4(SDHAF2):c.278A>T (p.His93Leu)
|
|
|
NM_017841.4(SDHAF2):c.279T>G (p.His93Gln)
|
rs1374250850
|
|
NM_017841.4(SDHAF2):c.280C>G (p.Leu94Val)
|
|
|
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)
|
|
|
NM_017841.4(SDHAF2):c.287A>C (p.His96Pro)
|
|
|
NM_017841.4(SDHAF2):c.288C>T (p.His96=)
|
rs764919936
|
|
NM_017841.4(SDHAF2):c.289A>G (p.Met97Val)
|
rs201520416
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.294A>C (p.Thr98=)
|
rs762441285
|
|
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)
|
|
|
NM_017841.4(SDHAF2):c.298A>G (p.Lys100Glu)
|
rs2134892837
|
|
NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu)
|
rs1590759653
|
|
NM_017841.4(SDHAF2):c.300G>T (p.Lys100Asn)
|
|
|
NM_017841.4(SDHAF2):c.301C>A (p.Gln101Lys)
|
rs2134892844
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.309C>A (p.Asn103Lys)
|
rs184314049
|
|
NM_017841.4(SDHAF2):c.30G>C (p.Ser10=)
|
rs2135436336
|
|
NM_017841.4(SDHAF2):c.310C>T (p.Leu104Phe)
|
|
|
NM_017841.4(SDHAF2):c.312C>A (p.Leu104=)
|
rs1590765104
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
NM_017841.4(SDHAF2):c.317A>G (p.Asp106Gly)
|
|
|
NM_017841.4(SDHAF2):c.318C>A (p.Asp106Glu)
|
rs1862016302
|
|
NM_017841.4(SDHAF2):c.318C>G (p.Asp106Glu)
|
|
|
NM_017841.4(SDHAF2):c.320G>T (p.Arg107Leu)
|
|
|
NM_017841.4(SDHAF2):c.324G>A (p.Leu108=)
|
rs1426061764
|
|
NM_017841.4(SDHAF2):c.324G>C (p.Leu108=)
|
|
|
NM_017841.4(SDHAF2):c.326T>C (p.Ile109Thr)
|
|
|
NM_017841.4(SDHAF2):c.327T>A (p.Ile109=)
|
rs757670376
|
|
NM_017841.4(SDHAF2):c.327T>G (p.Ile109Met)
|
rs757670376
|
|
NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter)
|
|
|
NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp)
|
rs148425779
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.331G>C (p.Glu111Gln)
|
|
|
NM_017841.4(SDHAF2):c.334C>A (p.Pro112Thr)
|
rs758481098
|
|
NM_017841.4(SDHAF2):c.33G>T (p.Ser11=)
|
|
|
NM_017841.4(SDHAF2):c.348G>C (p.Trp116Cys)
|
rs1590765145
|
|
NM_017841.4(SDHAF2):c.349G>A (p.Asp117Asn)
|
|
|
NM_017841.4(SDHAF2):c.34C>G (p.Leu12Val)
|
|
|
NM_017841.4(SDHAF2):c.34C>T (p.Leu12=)
|
rs2135436365
|
|
NM_017841.4(SDHAF2):c.350A>T (p.Asp117Val)
|
rs151040226
|
|
NM_017841.4(SDHAF2):c.354T>C (p.Ile118=)
|
rs1590765153
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)
|
|
|
NM_017841.4(SDHAF2):c.35T>A (p.Leu12Gln)
|
|
|
NM_017841.4(SDHAF2):c.35T>C (p.Leu12Pro)
|
rs1590759677
|
|
NM_017841.4(SDHAF2):c.36+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+1G>A
|
|
|
NM_017841.4(SDHAF2):c.36+5G>A
|
rs1590759705
|
|
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.362G>A (p.Trp121Ter)
|
rs1862017197
|
|
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter)
|
rs1060499901
|
|
NM_017841.4(SDHAF2):c.364G>T (p.Ala122Ser)
|
|
|
NM_017841.4(SDHAF2):c.366_370+9del
|
|
|
NM_017841.4(SDHAF2):c.367A>C (p.Thr123Pro)
|
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.37-113T>G
|
|
|
NM_017841.4(SDHAF2):c.37-12T>C
|
|
|
NM_017841.4(SDHAF2):c.37-20T>C
|
|
|
NM_017841.4(SDHAF2):c.37-20T>G
|
|
|
NM_017841.4(SDHAF2):c.37-5T>C
|
|
|
NM_017841.4(SDHAF2):c.37-6T>C
|
rs2134892037
|
|
NM_017841.4(SDHAF2):c.37-7A>G
|
rs1554984610
|
|
NM_017841.4(SDHAF2):c.37-8del
|
rs1862008777
|
|
NM_017841.4(SDHAF2):c.370+10A>G
|
rs754379604
|
|
NM_017841.4(SDHAF2):c.370+10A>T
|
|
|
NM_017841.4(SDHAF2):c.370+11T>C
|
|
|
NM_017841.4(SDHAF2):c.370+12G>A
|
rs886048415
|
|
NM_017841.4(SDHAF2):c.370+19A>C
|
|
|
NM_017841.4(SDHAF2):c.370+1G>A
|
|
|
NM_017841.4(SDHAF2):c.370+20G>T
|
|
|
NM_017841.4(SDHAF2):c.370+2T>A
|
rs770444026
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
NM_017841.4(SDHAF2):c.370+6G>A
|
rs1565128722
|
|
NM_017841.4(SDHAF2):c.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.37A>T (p.Met13Leu)
|
rs1361460244
|
|
NM_017841.4(SDHAF2):c.382G>A (p.Ala128Thr)
|
|
|
NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro)
|
rs1006514566
|
|
NM_017841.4(SDHAF2):c.383C>T (p.Ala128Val)
|
rs1554985400
|
|
NM_017841.4(SDHAF2):c.385C>T (p.Pro129Ser)
|
rs1060503391
|
|
NM_017841.4(SDHAF2):c.396del (p.Phe132fs)
|
|
|
NM_017841.4(SDHAF2):c.3G>A (p.Met1Ile)
|
rs1861835884
|
|
NM_017841.4(SDHAF2):c.401A>G (p.Asn134Ser)
|
rs2134901967
|
|
NM_017841.4(SDHAF2):c.405A>C (p.Glu135Asp)
|
rs1862132038
|
|
NM_017841.4(SDHAF2):c.406G>A (p.Val136Ile)
|
rs1862132068
|
|
NM_017841.4(SDHAF2):c.409A>G (p.Met137Val)
|
|
|
NM_017841.4(SDHAF2):c.410T>C (p.Met137Thr)
|
|
|
NM_017841.4(SDHAF2):c.410T>G (p.Met137Arg)
|
rs367574730
|
|
NM_017841.4(SDHAF2):c.412G>C (p.Ala138Pro)
|
|
|
NM_017841.4(SDHAF2):c.416T>C (p.Leu139Pro)
|
|
|
NM_017841.4(SDHAF2):c.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.422G>A (p.Arg141Lys)
|
rs2134902022
|
|
NM_017841.4(SDHAF2):c.424G>T (p.Asp142Tyr)
|
|
|
NM_017841.4(SDHAF2):c.432T>C (p.Ala144=)
|
|
|
NM_017841.4(SDHAF2):c.435A>G (p.Lys145=)
|
|
|
NM_017841.4(SDHAF2):c.436AACAAA[1] (p.146NK[1])
|
rs1862132626
|
|
NM_017841.4(SDHAF2):c.436AACAAA[3] (p.146NK[3])
|
rs1862132626
|
|
NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser)
|
rs2134902041
|
|
NM_017841.4(SDHAF2):c.43G>C (p.Ala15Pro)
|
rs1002894711
|
|
NM_017841.4(SDHAF2):c.43G>T (p.Ala15Ser)
|
rs1002894711
|
|
NM_017841.4(SDHAF2):c.443del (p.Asn148fs)
|
rs1002286076
|
|
NM_017841.4(SDHAF2):c.444C>A (p.Asn148Lys)
|
|
|
NM_017841.4(SDHAF2):c.444_447del (p.Asn148fs)
|
rs1862132755
|
|
NM_017841.4(SDHAF2):c.445A>G (p.Lys149Glu)
|
|
|
NM_017841.4(SDHAF2):c.446A>C (p.Lys149Thr)
|
rs1862132865
|
|
NM_017841.4(SDHAF2):c.446A>G (p.Lys149Arg)
|
rs1862132865
|
|
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs)
|
rs772219112
|
|
NM_017841.4(SDHAF2):c.448G>A (p.Glu150Lys)
|
rs1300630237
|
|
NM_017841.4(SDHAF2):c.448G>C (p.Glu150Gln)
|
rs1300630237
|
|
NM_017841.4(SDHAF2):c.449A>G (p.Glu150Gly)
|
rs1363376859
|
|
NM_017841.4(SDHAF2):c.450G>T (p.Glu150Asp)
|
|
|
NM_017841.4(SDHAF2):c.451C>T (p.Gln151Ter)
|
rs370174263
|
|
NM_017841.4(SDHAF2):c.452A>G (p.Gln151Arg)
|
|
|
NM_017841.4(SDHAF2):c.453G>A (p.Gln151=)
|
rs1271900425
|
|
NM_017841.4(SDHAF2):c.454A>C (p.Arg152=)
|
rs1056273933
|
|
NM_017841.4(SDHAF2):c.455G>C (p.Arg152Thr)
|
|
|
NM_017841.4(SDHAF2):c.456A>G (p.Arg152=)
|
rs2134902088
|
|
NM_017841.4(SDHAF2):c.458T>C (p.Leu153Pro)
|
rs753711279
|
|
NM_017841.4(SDHAF2):c.459G>C (p.Leu153=)
|
rs757151603
|
|
NM_017841.4(SDHAF2):c.464C>T (p.Ala155Val)
|
rs1245083102
|
|
NM_017841.4(SDHAF2):c.466C>T (p.Pro156Ser)
|
rs1862133442
|
|
NM_017841.4(SDHAF2):c.467C>T (p.Pro156Leu)
|
|
|
NM_017841.4(SDHAF2):c.46C>G (p.Leu16Val)
|
rs1312422519
|
|
NM_017841.4(SDHAF2):c.46C>T (p.Leu16=)
|
rs1312422519
|
|
NM_017841.4(SDHAF2):c.471T>C (p.Asp157=)
|
|
|
NM_017841.4(SDHAF2):c.473T>C (p.Leu158Pro)
|
rs1862133549
|
|
NM_017841.4(SDHAF2):c.477G>A (p.Glu159=)
|
|
|
NM_017841.4(SDHAF2):c.478T>C (p.Tyr160His)
|
rs2134902155
|
|
NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)
|
|
|
NM_017841.4(SDHAF2):c.480C>G (p.Tyr160Ter)
|
|
|
NM_017841.4(SDHAF2):c.483C>G (p.Leu161=)
|
rs1862133729
|
|
NM_017841.4(SDHAF2):c.488A>C (p.Glu163Ala)
|
|
|
NM_017841.4(SDHAF2):c.497G>T (p.Arg166Leu)
|
|
|
NM_017841.4(SDHAF2):c.49T>C (p.Ser17Pro)
|
|
|
NM_017841.4(SDHAF2):c.4G>A (p.Ala2Thr)
|
|
|
NM_017841.4(SDHAF2):c.501A>G (p.Ter167Trp)
|
|
|
NM_017841.4(SDHAF2):c.50C>T (p.Ser17Leu)
|
|
|
NM_017841.4(SDHAF2):c.51A>C (p.Ser17=)
|
|
|
NM_017841.4(SDHAF2):c.51A>G (p.Ser17=)
|
rs1590764718
|
|
NM_017841.4(SDHAF2):c.53G>A (p.Arg18Lys)
|
rs1862009340
|
|
NM_017841.4(SDHAF2):c.59G>A (p.Ser20Asn)
|
|
|
NM_017841.4(SDHAF2):c.5C>T (p.Ala2Val)
|
|
|
NM_017841.4(SDHAF2):c.60C>A (p.Ser20Arg)
|
rs1565128479
|
|
NM_017841.4(SDHAF2):c.62T>G (p.Leu21Arg)
|
|
|
NM_017841.4(SDHAF2):c.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.66G>T (p.Leu22Phe)
|
|
|
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.79A>G (p.Ser27Gly)
|
rs2134892157
|
|
NM_017841.4(SDHAF2):c.82G>A (p.Val28Met)
|
rs1303104521
|
|
NM_017841.4(SDHAF2):c.83T>A (p.Val28Glu)
|
rs1590764751
|
|
NM_017841.4(SDHAF2):c.83T>G (p.Val28Gly)
|
rs1590764751
|
|
NM_017841.4(SDHAF2):c.88T>C (p.Ser30Pro)
|
|
|
NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter)
|
|
|
NM_017841.4(SDHAF2):c.90A>C (p.Ser30=)
|
|
|
NM_017841.4(SDHAF2):c.98G>T (p.Arg33Leu)
|
rs777442412
|
|
NM_017841.4(SDHAF2):c.9G>A (p.Val3=)
|
rs2135436159
|
|
NM_017841.4(SDHAF2):c.9G>C (p.Val3=)
|
|
|
NM_017849.3(TMEM127):c.-131-?_*3600del
|
|
|
NM_017849.4(TMEM127):c.100G>A (p.Ala34Thr)
|
rs1553437740
|
|
NM_017849.4(TMEM127):c.101C>A (p.Ala34Asp)
|
rs1451389209
|
|
NM_017849.4(TMEM127):c.102C>G (p.Ala34=)
|
rs781643869
|
|
NM_017849.4(TMEM127):c.104T>C (p.Leu35Pro)
|
|
|
NM_017849.4(TMEM127):c.105G>T (p.Leu35=)
|
rs2104308019
|
|
NM_017849.4(TMEM127):c.106C>T (p.Pro36Ser)
|
|
|
NM_017849.4(TMEM127):c.109_112dup (p.Ala38fs)
|
|
|
NM_017849.4(TMEM127):c.109_120dup (p.Gly37_Ser40dup)
|
rs2104307941
|
|
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
|
|
|
NM_017849.4(TMEM127):c.111C>T (p.Gly37=)
|
rs1573977865
|
|
NM_017849.4(TMEM127):c.112G>A (p.Ala38Thr)
|
|
|
NM_017849.4(TMEM127):c.112G>C (p.Ala38Pro)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.114C>T (p.Ala38=)
|
rs771646015
|
|
NM_017849.4(TMEM127):c.115_116del (p.Leu39fs)
|
|
|
NM_017849.4(TMEM127):c.116T>C (p.Leu39Pro)
|
rs1684392845
|
|
NM_017849.4(TMEM127):c.116T>G (p.Leu39Arg)
|
rs1684392845
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.118T>C (p.Ser40Pro)
|
|
|
NM_017849.4(TMEM127):c.119C>T (p.Ser40Phe)
|
rs1684392721
|
|
NM_017849.4(TMEM127):c.11C>T (p.Pro4Leu)
|
|
|
NM_017849.4(TMEM127):c.120T>C (p.Ser40=)
|
|
|
NM_017849.4(TMEM127):c.121A>T (p.Ile41Phe)
|
|
|
NM_017849.4(TMEM127):c.123C>G (p.Ile41Met)
|
rs1573977845
|
|
NM_017849.4(TMEM127):c.123C>T (p.Ile41=)
|
rs1573977845
|
|
NM_017849.4(TMEM127):c.124A>C (p.Thr42Pro)
|
|
|
NM_017849.4(TMEM127):c.124_125del (p.Thr42fs)
|
rs1553437737
|
|
NM_017849.4(TMEM127):c.124dup (p.Thr42fs)
|
|
|
NM_017849.4(TMEM127):c.125C>G (p.Thr42Arg)
|
rs1684392400
|
|
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.127G>A (p.Ala43Thr)
|
rs2104307898
|
|
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu)
|
rs1684392280
|
|
NM_017849.4(TMEM127):c.128C>G (p.Ala43Gly)
|
|
|
NM_017849.4(TMEM127):c.129G>T (p.Ala43=)
|
|
|
NM_017849.4(TMEM127):c.12C>G (p.Pro4=)
|
|
|
NM_017849.4(TMEM127):c.12del (p.Gly5fs)
|
rs2104308592
|
|
NM_017849.4(TMEM127):c.131T>C (p.Leu44Pro)
|
|
|
NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)
|
|
|
NM_017849.4(TMEM127):c.134G>T (p.Cys45Phe)
|
rs1684391872
|
|
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser)
|
rs144659242
|
|
NM_017849.4(TMEM127):c.137C>G (p.Thr46Ser)
|
rs1327376770
|
|
NM_017849.4(TMEM127):c.139G>A (p.Ala47Thr)
|
rs2104307805
|
|
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
|
rs786202314
|
|
NM_017849.4(TMEM127):c.13G>T (p.Gly5Ter)
|
|
|
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp)
|
rs1022275292
|
|
NM_017849.4(TMEM127):c.140C>T (p.Ala47Val)
|
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.147C>G (p.Ala49=)
|
rs750237643
|
|
NM_017849.4(TMEM127):c.148G>A (p.Glu50Lys)
|
rs1437924634
|
|
NM_017849.4(TMEM127):c.14G>A (p.Gly5Glu)
|
|
|
NM_017849.4(TMEM127):c.151C>G (p.Pro51Ala)
|
rs2104307726
|
|
NM_017849.4(TMEM127):c.152C>G (p.Pro51Arg)
|
rs1573977765
|
|
NM_017849.4(TMEM127):c.153C>G (p.Pro51=)
|
rs1573977758
|
|
NM_017849.4(TMEM127):c.153C>T (p.Pro51=)
|
rs1573977758
|
|
NM_017849.4(TMEM127):c.154G>A (p.Ala52Thr)
|
rs767257269
|
|
NM_017849.4(TMEM127):c.155C>G (p.Ala52Gly)
|
|
|
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)
|
rs1684390862
|
|
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter)
|
rs121908818
|
|
NM_017849.4(TMEM127):c.159G>T (p.Trp53Cys)
|
|
|
NM_017849.4(TMEM127):c.163C>T (p.His55Tyr)
|
|
|
NM_017849.4(TMEM127):c.164A>C (p.His55Pro)
|
rs894041563
|
|
NM_017849.4(TMEM127):c.165C>T (p.His55=)
|
|
|
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn)
|
rs1177862234
|
|
NM_017849.4(TMEM127):c.168C>T (p.Ile56=)
|
rs2104307611
|
|
NM_017849.4(TMEM127):c.16G>A (p.Gly6Ser)
|
|
|
NM_017849.4(TMEM127):c.171C>G (p.His57Gln)
|
rs1573977723
|
|
NM_017849.4(TMEM127):c.171C>T (p.His57=)
|
rs1573977723
|
|
NM_017849.4(TMEM127):c.173G>A (p.Gly58Glu)
|
rs1684390081
|
|
NM_017849.4(TMEM127):c.176G>A (p.Gly59Asp)
|
|
|
NM_017849.4(TMEM127):c.176G>T (p.Gly59Val)
|
rs1684390010
|
|
NM_017849.4(TMEM127):c.177C>T (p.Gly59=)
|
|
|
NM_017849.4(TMEM127):c.179C>A (p.Thr60Asn)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.179C>T (p.Thr60Ile)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.17G>T (p.Gly6Val)
|
|
|
NM_017849.4(TMEM127):c.181T>A (p.Cys61Ser)
|
|
|
NM_017849.4(TMEM127):c.182G>A (p.Cys61Tyr)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
|
|
|
NM_017849.4(TMEM127):c.185C>G (p.Ser62Trp)
|
|
|
NM_017849.4(TMEM127):c.185C>T (p.Ser62Leu)
|
rs1248364576
|
|
NM_017849.4(TMEM127):c.186G>A (p.Ser62=)
|
rs1573977697
|
|
NM_017849.4(TMEM127):c.187C>A (p.Arg63Ser)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.187C>T (p.Arg63Cys)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.188G>A (p.Arg63His)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.188G>T (p.Arg63Leu)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.191A>G (p.Gln64Arg)
|
|
|
NM_017849.4(TMEM127):c.193G>A (p.Glu65Lys)
|
|
|
NM_017849.4(TMEM127):c.193G>T (p.Glu65Ter)
|
|
|
NM_017849.4(TMEM127):c.194A>C (p.Glu65Ala)
|
|
|
NM_017849.4(TMEM127):c.194A>G (p.Glu65Gly)
|
|
|
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
|
|
|
NM_017849.4(TMEM127):c.196C>G (p.Leu66Val)
|
rs1211097710
|
|
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.199G>A (p.Gly67Arg)
|
|
|
NM_017849.4(TMEM127):c.19G>T (p.Ala7Ser)
|
|
|
NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)
|
rs1553437759
|
|
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val)
|
rs1573977675
|
|
NM_017849.4(TMEM127):c.201G>A (p.Gly67=)
|
rs1684388788
|
|
NM_017849.4(TMEM127):c.202dup (p.Val68fs)
|
rs1684388744
|
|
NM_017849.4(TMEM127):c.20C>G (p.Ala7Gly)
|
rs1357430519
|
|
NM_017849.4(TMEM127):c.210C>T (p.Asp70=)
|
rs1553437721
|
|
NM_017849.4(TMEM127):c.211G>C (p.Val71Leu)
|
|
|
NM_017849.4(TMEM127):c.212T>A (p.Val71Glu)
|
rs1553437719
|
|
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.216G>A (p.Leu72=)
|
|
|
NM_017849.4(TMEM127):c.218G>A (p.Gly73Asp)
|
|
|
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala)
|
rs1304152721
|
|
NM_017849.4(TMEM127):c.218del (p.Gly73fs)
|
rs2104307293
|
|
NM_017849.4(TMEM127):c.222T>C (p.Tyr74=)
|
rs2104307270
|
|
NM_017849.4(TMEM127):c.223G>A (p.Val75Met)
|
rs2104307262
|
|
NM_017849.4(TMEM127):c.224T>A (p.Val75Glu)
|
rs2104307256
|
|
NM_017849.4(TMEM127):c.224del (p.Val75fs)
|
|
|
NM_017849.4(TMEM127):c.225G>A (p.Val75=)
|
rs1358019729
|
|
NM_017849.4(TMEM127):c.226C>T (p.His76Tyr)
|
|
|
NM_017849.4(TMEM127):c.228C>A (p.His76Gln)
|
rs1060500599
|
|
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>G (p.Leu80Val)
|
rs1436382974
|
|
NM_017849.4(TMEM127):c.238C>T (p.Leu80=)
|
rs1436382974
|
|
NM_017849.4(TMEM127):c.23G>T (p.Gly8Val)
|
rs1573978044
|
|
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+2T>C
|
|
|
NM_017849.4(TMEM127):c.244+3G>C
|
rs1472610237
|
|
NM_017849.4(TMEM127):c.244+5G>A
|
rs1684386631
|
|
NM_017849.4(TMEM127):c.244+6G>A
|
|
|
NM_017849.4(TMEM127):c.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>G
|
rs1573970399
|
|
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.245-1G>T
|
rs121908821
|
|
NM_017849.4(TMEM127):c.245-20A>T
|
|
|
NM_017849.4(TMEM127):c.245-21_245-20dup
|
|
|
NM_017849.4(TMEM127):c.245-2A>G
|
rs2104288018
|
|
NM_017849.4(TMEM127):c.245-5T>G
|
|
|
NM_017849.4(TMEM127):c.245-6C>G
|
rs1573970396
|
|
NM_017849.4(TMEM127):c.245-7T>G
|
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.249C>A (p.Phe83Leu)
|
|
|
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
|
rs1684396239
|
|
NM_017849.4(TMEM127):c.24_48del (p.Leu9fs)
|
rs2104308313
|
|
NM_017849.4(TMEM127):c.24del (p.Leu9fs)
|
rs2104308495
|
|
NM_017849.4(TMEM127):c.250T>C (p.Cys84Arg)
|
|
|
NM_017849.4(TMEM127):c.251G>T (p.Cys84Phe)
|
rs1684175500
|
|
NM_017849.4(TMEM127):c.261C>G (p.Pro87=)
|
rs1447112240
|
|
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
|
|
|
NM_017849.4(TMEM127):c.265A>G (p.Thr89Ala)
|
rs1573970344
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
|
|
|
NM_017849.4(TMEM127):c.270G>A (p.Val90=)
|
rs748896126
|
|
NM_017849.4(TMEM127):c.271C>A (p.Leu91Met)
|
rs1684174363
|
|
NM_017849.4(TMEM127):c.271C>T (p.Leu91=)
|
|
|
NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln)
|
rs775019246
|
|
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.278T>C (p.Leu93Pro)
|
|
|
NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)
|
|
|
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.281G>T (p.Arg94Leu)
|
rs746831347
|
|
NM_017849.4(TMEM127):c.282G>T (p.Arg94=)
|
|
|
NM_017849.4(TMEM127):c.283G>A (p.Val95Ile)
|
rs2104287727
|
|
NM_017849.4(TMEM127):c.283del (p.Val95fs)
|
rs1553437028
|
|
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.291del (p.Ala98fs)
|
rs2104287651
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.294C>T (p.Ala98=)
|
rs1684173194
|
|
NM_017849.4(TMEM127):c.298T>A (p.Cys100Ser)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298T>C (p.Cys100Arg)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298_303dup (p.Phe101_Leu102insCysPhe)
|
|
|
NM_017849.4(TMEM127):c.2T>A (p.Met1Lys)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.302T>C (p.Phe101Ser)
|
|
|
NM_017849.4(TMEM127):c.303C>G (p.Phe101Leu)
|
|
|
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
|
|
|
NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg)
|
|
|
NM_017849.4(TMEM127):c.307G>A (p.Gly103Ser)
|
rs2104287545
|
|
NM_017849.4(TMEM127):c.308G>A (p.Gly103Asp)
|
rs1313510506
|
|
NM_017849.4(TMEM127):c.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>G (p.Ile104Met)
|
rs2104287512
|
|
NM_017849.4(TMEM127):c.312C>T (p.Ile104=)
|
rs2104287512
|
|
NM_017849.4(TMEM127):c.313C>G (p.Leu105Val)
|
|
|
NM_017849.4(TMEM127):c.314T>G (p.Leu105Arg)
|
rs766918841
|
|
NM_017849.4(TMEM127):c.315G>A (p.Leu105=)
|
rs1440094325
|
|
NM_017849.4(TMEM127):c.31G>A (p.Gly11Ser)
|
|
|
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)
|
rs992633976
|
|
NM_017849.4(TMEM127):c.321T>C (p.Ser107=)
|
rs1553437007
|
|
NM_017849.4(TMEM127):c.323T>C (p.Leu108Pro)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.323T>G (p.Leu108Arg)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.325_326del (p.Ser109fs)
|
|
|
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe)
|
rs1684172006
|
|
NM_017849.4(TMEM127):c.327C>G (p.Ser109=)
|
rs773650718
|
|
NM_017849.4(TMEM127):c.327del (p.Ala110fs)
|
|
|
NM_017849.4(TMEM127):c.328G>C (p.Ala110Pro)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.328G>T (p.Ala110Ser)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.32G>A (p.Gly11Asp)
|
rs773493345
|
|
NM_017849.4(TMEM127):c.330T>A (p.Ala110=)
|
|
|
NM_017849.4(TMEM127):c.331T>C (p.Phe111Leu)
|
rs1558752478
|
|
NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser)
|
|
|
NM_017849.4(TMEM127):c.332T>G (p.Phe111Cys)
|
rs2104287330
|
|
NM_017849.4(TMEM127):c.332del (p.Phe111fs)
|
|
|
NM_017849.4(TMEM127):c.335T>C (p.Leu112Pro)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.335T>G (p.Leu112Arg)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.337C>A (p.Leu113Met)
|
rs2104287288
|
|
NM_017849.4(TMEM127):c.337del (p.Leu113fs)
|
rs1558752468
|
|
NM_017849.4(TMEM127):c.338T>A (p.Leu113Gln)
|
|
|
NM_017849.4(TMEM127):c.338T>C (p.Leu113Pro)
|
|
|
NM_017849.4(TMEM127):c.338T>G (p.Leu113Arg)
|
|
|
NM_017849.4(TMEM127):c.33C>A (p.Gly11=)
|
rs1268280072
|
|
NM_017849.4(TMEM127):c.341A>T (p.Asp114Val)
|
rs2104287263
|
|
NM_017849.4(TMEM127):c.342_343insA (p.Val115fs)
|
|
|
NM_017849.4(TMEM127):c.343G>A (p.Val115Ile)
|
rs930453941
|
|
NM_017849.4(TMEM127):c.345C>G (p.Val115=)
|
|
|
NM_017849.4(TMEM127):c.345C>T (p.Val115=)
|
|
|
NM_017849.4(TMEM127):c.347_348del (p.Phe116fs)
|
|
|
NM_017849.4(TMEM127):c.34G>A (p.Gly12Arg)
|
rs1684396039
|
|
NM_017849.4(TMEM127):c.352C>T (p.Pro118Ser)
|
|
|
NM_017849.4(TMEM127):c.353C>A (p.Pro118Gln)
|
|
|
NM_017849.4(TMEM127):c.359A>G (p.His120Arg)
|
rs745385741
|
|
NM_017849.4(TMEM127):c.363T>C (p.Pro121=)
|
rs1684170058
|
|
NM_017849.4(TMEM127):c.364G>A (p.Ala122Thr)
|
rs1553436990
|
|
NM_017849.4(TMEM127):c.365C>T (p.Ala122Val)
|
|
|
NM_017849.4(TMEM127):c.36G>T (p.Gly12=)
|
|
|
NM_017849.4(TMEM127):c.36_45del (p.Arg13fs)
|
|
|
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
|
rs1684169953
|
|
NM_017849.4(TMEM127):c.371A>G (p.Lys124Arg)
|
rs377430566
|
|
NM_017849.4(TMEM127):c.375C>G (p.Ile125Met)
|
|
|
NM_017849.4(TMEM127):c.375C>T (p.Ile125=)
|
rs1260610916
|
|
NM_017849.4(TMEM127):c.376A>T (p.Thr126Ser)
|
rs1684169726
|
|
NM_017849.4(TMEM127):c.378TCG[1] (p.Arg128del)
|
|
|
NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)
|
|
|
NM_017849.4(TMEM127):c.379del (p.Arg127fs)
|
|
|
NM_017849.4(TMEM127):c.380G>C (p.Arg127Pro)
|
|
|
NM_017849.4(TMEM127):c.382C>T (p.Arg128Cys)
|
rs759261535
|
|
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu)
|
rs779277417
|
|
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
|
rs1684169157
|
|
NM_017849.4(TMEM127):c.385T>C (p.Tyr129His)
|
|
|
NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)
|
|
|
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
|
|
|
NM_017849.4(TMEM127):c.389C>A (p.Ala130Asp)
|
|
|
NM_017849.4(TMEM127):c.391T>A (p.Phe131Ile)
|
rs1573970081
|
|
NM_017849.4(TMEM127):c.394G>T (p.Ala132Ser)
|
|
|
NM_017849.4(TMEM127):c.396C>T (p.Ala132=)
|
rs2104286934
|
|
NM_017849.4(TMEM127):c.397C>G (p.His133Asp)
|
|
|
NM_017849.4(TMEM127):c.397C>T (p.His133Tyr)
|
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017849.4(TMEM127):c.399T>C (p.His133=)
|
|
|
NM_017849.4(TMEM127):c.39C>A (p.Arg13=)
|
rs1060503975
|
|
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn)
|
rs1573970063
|
|
NM_017849.4(TMEM127):c.401T>C (p.Ile134Thr)
|
|
|
NM_017849.4(TMEM127):c.402C>A (p.Ile134=)
|
rs1553436974
|
|
NM_017849.4(TMEM127):c.403C>A (p.Leu135Ile)
|
rs751854293
|
|
NM_017849.4(TMEM127):c.404T>C (p.Leu135Pro)
|
rs1347547225
|
|
NM_017849.4(TMEM127):c.408G>A (p.Thr136=)
|
rs143522428
|
|
NM_017849.4(TMEM127):c.408G>C (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+1G>C
|
rs121908825
|
|
NM_017849.4(TMEM127):c.409+5G>A
|
|
|
NM_017849.4(TMEM127):c.409+8G>C
|
rs749887924
|
|
NM_017849.4(TMEM127):c.409+9T>C
|
rs1573970006
|
|
NM_017849.4(TMEM127):c.40C>G (p.Arg14Gly)
|
rs1684395815
|
|
NM_017849.4(TMEM127):c.40C>T (p.Arg14Trp)
|
|
|
NM_017849.4(TMEM127):c.410-10del
|
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.410-265_625del
|
rs2104283392
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
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.412C>G (p.Leu138Val)
|
rs1684153047
|
|
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
|
|
|
NM_017849.4(TMEM127):c.414G>T (p.Leu138=)
|
rs2104285371
|
|
NM_017849.4(TMEM127):c.418T>A (p.Cys140Ser)
|
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn)
|
|
|
NM_017849.4(TMEM127):c.430A>T (p.Ile144Phe)
|
rs896909534
|
|
NM_017849.4(TMEM127):c.431T>C (p.Ile144Thr)
|
rs1036821113
|
|
NM_017849.4(TMEM127):c.438_442del (p.Phe146fs)
|
|
|
NM_017849.4(TMEM127):c.43C>G (p.Arg15Gly)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
NM_017849.4(TMEM127):c.446G>C (p.Trp149Ser)
|
|
|
NM_017849.4(TMEM127):c.448G>C (p.Ala150Pro)
|
|
|
NM_017849.4(TMEM127):c.449C>T (p.Ala150Val)
|
|
|
NM_017849.4(TMEM127):c.44G>A (p.Arg15Gln)
|
|
|
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)
|
rs2104308338
|
|
NM_017849.4(TMEM127):c.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.466G>C (p.Ala156Pro)
|
|
|
NM_017849.4(TMEM127):c.468C>T (p.Ala156=)
|
rs749579854
|
|
NM_017849.4(TMEM127):c.471GCA[5] (p.Gln160dup)
|
rs777748763
|
|
NM_017849.4(TMEM127):c.472C>A (p.Gln158Lys)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.473A>G (p.Gln158Arg)
|
rs1231103743
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter)
|
rs1573969322
|
|
NM_017849.4(TMEM127):c.482A>G (p.His161Arg)
|
rs778839133
|
|
NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)
|
|
|
NM_017849.4(TMEM127):c.48G>A (p.Arg16=)
|
rs2104308307
|
|
NM_017849.4(TMEM127):c.48G>C (p.Arg16Ser)
|
|
|
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His)
|
rs1553436892
|
|
NM_017849.4(TMEM127):c.495T>C (p.His165=)
|
|
|
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg)
|
rs372120755
|
|
NM_017849.4(TMEM127):c.4T>C (p.Tyr2His)
|
rs2104308652
|
|
NM_017849.4(TMEM127):c.4T>G (p.Tyr2Asp)
|
|
|
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe)
|
rs994504317
|
|
NM_017849.4(TMEM127):c.501C>G (p.Ser167=)
|
rs1269059052
|
|
NM_017849.4(TMEM127):c.501C>T (p.Ser167=)
|
rs1269059052
|
|
NM_017849.4(TMEM127):c.504G>C (p.Gln168His)
|
|
|
NM_017849.4(TMEM127):c.507C>A (p.Val169=)
|
rs1573969264
|
|
NM_017849.4(TMEM127):c.507C>G (p.Val169=)
|
rs1573969264
|
|
NM_017849.4(TMEM127):c.50G>T (p.Ser17Ile)
|
rs1223613323
|
|
NM_017849.4(TMEM127):c.511G>C (p.Val171Leu)
|
|
|
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)
|
rs1684149620
|
|
NM_017849.4(TMEM127):c.515C>T (p.Thr172Ile)
|
|
|
NM_017849.4(TMEM127):c.516C>T (p.Thr172=)
|
|
|
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys)
|
rs1684149438
|
|
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu)
|
rs758676810
|
|
NM_017849.4(TMEM127):c.523G>C (p.Val175Leu)
|
rs149034651
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.527G>T (p.Ser176Ile)
|
rs2104284475
|
|
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
|
rs1684148846
|
|
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)
|
rs1553436874
|
|
NM_017849.4(TMEM127):c.536T>C (p.Leu179Pro)
|
rs1390368617
|
|
NM_017849.4(TMEM127):c.538G>T (p.Val180Leu)
|
rs767100341
|
|
NM_017849.4(TMEM127):c.539dup (p.Ala181fs)
|
|
|
NM_017849.4(TMEM127):c.53C>G (p.Pro18Arg)
|
|
|
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)
|
rs1684147771
|
|
NM_017849.4(TMEM127):c.543A>G (p.Ala181=)
|
rs2104284290
|
|
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
|
rs761885719
|
|
NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
|
|
|
NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser)
|
rs1060500597
|
|
NM_017849.4(TMEM127):c.550G>C (p.Gly184Arg)
|
rs1060500597
|
|
NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)
|
|
|
NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg)
|
rs1553436865
|
|
NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)
|
|
|
NM_017849.4(TMEM127):c.555A>C (p.Gly185=)
|
rs2104284151
|
|
NM_017849.4(TMEM127):c.556G>T (p.Ala186Ser)
|
|
|
NM_017849.4(TMEM127):c.559T>C (p.Ser187Pro)
|
|
|
NM_017849.4(TMEM127):c.55G>A (p.Gly19Arg)
|
rs774322340
|
|
NM_017849.4(TMEM127):c.55G>C (p.Gly19Arg)
|
rs774322340
|
|
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu)
|
rs1684147520
|
|
NM_017849.4(TMEM127):c.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.565C>G (p.Leu189Val)
|
rs146965678
|
|
NM_017849.4(TMEM127):c.566T>C (p.Leu189Pro)
|
|
|
NM_017849.4(TMEM127):c.567G>A (p.Leu189=)
|
rs776732082
|
|
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
|
|
NM_017849.4(TMEM127):c.569C>A (p.Ala190Asp)
|
|
|
NM_017849.4(TMEM127):c.569C>G (p.Ala190Gly)
|
rs2104284000
|
|
NM_017849.4(TMEM127):c.570del (p.Thr191fs)
|
rs1215337884
|
|
NM_017849.4(TMEM127):c.574G>T (p.Ala192Ser)
|
|
|
NM_017849.4(TMEM127):c.575C>T (p.Ala192Val)
|
|
|
NM_017849.4(TMEM127):c.577G>A (p.Ala193Thr)
|
|
|
NM_017849.4(TMEM127):c.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.583C>T (p.Leu195Phe)
|
rs2104283802
|
|
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)
|
rs1573969123
|
|
NM_017849.4(TMEM127):c.584T>G (p.Leu195Arg)
|
rs1573969123
|
|
NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)
|
rs1684146217
|
|
NM_017849.4(TMEM127):c.588G>A (p.Leu196=)
|
rs1684146150
|
|
NM_017849.4(TMEM127):c.593A>G (p.His198Arg)
|
|
|
NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe)
|
rs1573969106
|
|
NM_017849.4(TMEM127):c.597C>A (p.Tyr199Ter)
|
rs1684145823
|
|
NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)
|
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.600C>A (p.Pro200=)
|
rs1060503974
|
|
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)
|
rs1684144587
|
|
NM_017849.4(TMEM127):c.601A>T (p.Thr201Ser)
|
rs1684144587
|
|
NM_017849.4(TMEM127):c.603A>C (p.Thr201=)
|
rs1270359170
|
|
NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys)
|
rs1429621198
|
|
NM_017849.4(TMEM127):c.605A>G (p.Glu202Gly)
|
|
|
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.610G>A (p.Glu204Lys)
|
|
|
NM_017849.4(TMEM127):c.612G>C (p.Glu204Asp)
|
rs1684144140
|
|
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
|
rs1684144086
|
|
NM_017849.4(TMEM127):c.615G>A (p.Glu205=)
|
|
|
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
|
rs1684143889
|
|
NM_017849.4(TMEM127):c.618G>A (p.Gln206=)
|
|
|
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val)
|
rs1285100095
|
|
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.634T>C (p.Ser212Pro)
|
rs775177724
|
|
NM_017849.4(TMEM127):c.636A>G (p.Ser212=)
|
rs1573969010
|
|
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
|
|
|
NM_017849.4(TMEM127):c.63C>G (p.Ser21Arg)
|
rs1573977946
|
|
NM_017849.4(TMEM127):c.63C>T (p.Ser21=)
|
|
|
NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly)
|
rs1573968995
|
|
NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)
|
|
|
NM_017849.4(TMEM127):c.648_649dup (p.Asn217fs)
|
rs2104283140
|
|
NM_017849.4(TMEM127):c.64G>A (p.Ala22Thr)
|
rs1273425757
|
|
NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys)
|
rs746291260
|
|
NM_017849.4(TMEM127):c.656C>A (p.Pro219His)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys)
|
rs2104283046
|
|
NM_017849.4(TMEM127):c.65C>G (p.Ala22Gly)
|
|
|
NM_017849.4(TMEM127):c.65C>T (p.Ala22Val)
|
rs1573977937
|
|
NM_017849.4(TMEM127):c.661C>G (p.Pro221Ala)
|
|
|
NM_017849.4(TMEM127):c.664G>A (p.Ala222Thr)
|
|
|
NM_017849.4(TMEM127):c.664G>T (p.Ala222Ser)
|
|
|
NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys)
|
rs779910556
|
|
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
|
|
|
NM_017849.4(TMEM127):c.669A>T (p.Glu223Asp)
|
rs1431574710
|
|
NM_017849.4(TMEM127):c.671A>G (p.Tyr224Cys)
|
rs1060500598
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
|
NM_017849.4(TMEM127):c.674del (p.Glu225fs)
|
rs2104282864
|
|
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp)
|
rs779189359
|
|
NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)
|
|
|
NM_017849.4(TMEM127):c.679A>G (p.Ile227Val)
|
|
|
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)
|
rs1684140655
|
|
NM_017849.4(TMEM127):c.67C>T (p.Leu23=)
|
rs749807415
|
|
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
|
|
|
NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys)
|
|
|
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)
|
rs1684140585
|
|
NM_017849.4(TMEM127):c.690C>T (p.Phe230=)
|
rs1684140585
|
|
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)
|
rs1684140382
|
|
NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)
|
|
|
NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser)
|
|
|
NM_017849.4(TMEM127):c.698C>A (p.Pro233His)
|
|
|
NM_017849.4(TMEM127):c.699C>G (p.Pro233=)
|
|
|
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala)
|
rs780992481
|
|
NM_017849.4(TMEM127):c.701dup (p.Ala235fs)
|
|
|
NM_017849.4(TMEM127):c.702del (p.Ala235fs)
|
rs2104282584
|
|
NM_017849.4(TMEM127):c.703G>C (p.Ala235Pro)
|
|
|
NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter)
|
|
|
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=)
|
rs2104282548
|
|
NM_017849.4(TMEM127):c.710C>T (p.Thr237Ile)
|
|
|
NM_017849.4(TMEM127):c.711A>G (p.Thr237=)
|
rs2104282530
|
|
NM_017849.4(TMEM127):c.712C>T (p.Pro238Ser)
|
rs1184921725
|
|
NM_017849.4(TMEM127):c.714C>T (p.Pro238=)
|
|
|
NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys)
|
|
|
NM_017849.4(TMEM127):c.717A>C (p.Ter239Tyr)
|
|
|
NM_017849.4(TMEM127):c.72C>G (p.Pro24=)
|
rs1684394336
|
|
NM_017849.4(TMEM127):c.73A>T (p.Lys25Ter)
|
rs1573977924
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_017849.4(TMEM127):c.77A>G (p.Gln26Arg)
|
|
|
NM_017849.4(TMEM127):c.78G>T (p.Gln26His)
|
|
|
NM_017849.4(TMEM127):c.79C>T (p.Pro27Ser)
|
|
|
NM_017849.4(TMEM127):c.7del (p.Ala3fs)
|
rs1558756727
|
|
NM_017849.4(TMEM127):c.80C>G (p.Pro27Arg)
|
rs983504110
|
|
NM_017849.4(TMEM127):c.81G>A (p.Pro27=)
|
rs1553437743
|
|
NM_017849.4(TMEM127):c.82G>T (p.Glu28Ter)
|
|
|
NM_017849.4(TMEM127):c.86G>A (p.Arg29His)
|
|
|
NM_017849.4(TMEM127):c.87T>C (p.Arg29=)
|
|
|
NM_017849.4(TMEM127):c.89G>A (p.Ser30Asn)
|
|
|
NM_017849.4(TMEM127):c.89G>T (p.Ser30Ile)
|
rs2104308085
|
|
NM_017849.4(TMEM127):c.8C>G (p.Ala3Gly)
|
|
|
NM_017849.4(TMEM127):c.90C>G (p.Ser30Arg)
|
rs2104308073
|
|
NM_017849.4(TMEM127):c.94G>A (p.Ala32Thr)
|
rs770347064
|
|
NM_017849.4(TMEM127):c.94G>T (p.Ala32Ser)
|
rs770347064
|
|
NM_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.1008C>T (p.Ala336=)
|
|
|
NM_021098.3(CACNA1H):c.1012A>G (p.Ile338Val)
|
rs759899460
|
|
NM_021098.3(CACNA1H):c.1017C>T (p.Asn339=)
|
|
|
NM_021098.3(CACNA1H):c.1029C>G (p.Tyr343Ter)
|
rs375894182
|
|
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp)
|
rs2141243964
|
|
NM_021098.3(CACNA1H):c.1038G>T (p.Val346=)
|
|
|
NM_021098.3(CACNA1H):c.107C>T (p.Pro36Leu)
|
|
|
NM_021098.3(CACNA1H):c.1083C>T (p.Phe361=)
|
|
|
NM_021098.3(CACNA1H):c.1084G>A (p.Asp362Asn)
|
rs1567508639
|
|
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)
|
|
|
NM_021098.3(CACNA1H):c.1095C>T (p.Gly365=)
|
rs1269503775
|
|
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys)
|
rs1567508720
|
|
NM_021098.3(CACNA1H):c.1109C>T (p.Ala370Val)
|
|
|
NM_021098.3(CACNA1H):c.1113C>T (p.Ile371=)
|
|
|
NM_021098.3(CACNA1H):c.1119+13A>T
|
rs1967734739
|
|
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.1120-3C>A
|
|
|
NM_021098.3(CACNA1H):c.1120-3del
|
rs748730819
|
|
NM_021098.3(CACNA1H):c.1120-3dup
|
rs748730819
|
|
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.113_114delinsTT (p.Arg38Leu)
|
|
|
NM_021098.3(CACNA1H):c.1143G>A (p.Val381=)
|
|
|
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.1175C>G (p.Ser392Ter)
|
|
|
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu)
|
|
|
NM_021098.3(CACNA1H):c.1176A>G (p.Ser392=)
|
|
|
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys)
|
|
|
NM_021098.3(CACNA1H):c.1182C>T (p.Tyr394=)
|
|
|
NM_021098.3(CACNA1H):c.1185C>T (p.Asn395=)
|
|
|
NM_021098.3(CACNA1H):c.1188C>T (p.Phe396=)
|
|
|
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>G (p.Leu401Val)
|
rs551581496
|
|
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.1212+12C>T
|
rs8060577
|
|
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.1213-18C>A
|
rs57432507
|
|
NM_021098.3(CACNA1H):c.1213-19C>G
|
|
|
NM_021098.3(CACNA1H):c.1213-4A>G
|
|
|
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=)
|
|
|
NM_021098.3(CACNA1H):c.1227C>T (p.Phe409=)
|
|
|
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser)
|
rs779840429
|
|
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.1283G>A (p.Arg428Gln)
|
rs1452763580
|
|
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs)
|
rs1596408210
|
|
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val)
|
rs1227599612
|
|
NM_021098.3(CACNA1H):c.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.131C>T (p.Ser44Phe)
|
rs983437887
|
|
NM_021098.3(CACNA1H):c.1320C>T (p.His440=)
|
|
|
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser)
|
rs771750212
|
|
NM_021098.3(CACNA1H):c.1330G>A (p.Asp444Asn)
|
|
|
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu)
|
rs746803902
|
|
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.1343C>G (p.Ala448Gly)
|
rs770949848
|
|
NM_021098.3(CACNA1H):c.1344C>G (p.Ala448=)
|
|
|
NM_021098.3(CACNA1H):c.1344C>T (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.135G>T (p.Glu45Asp)
|
rs1371342942
|
|
NM_021098.3(CACNA1H):c.1360G>C (p.Gly454Arg)
|
|
|
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn)
|
rs1041969243
|
|
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn)
|
rs2141256263
|
|
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
|
|
|
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val)
|
rs1967962877
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.13G>T (p.Ala5Ser)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met)
|
rs2141256394
|
|
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val)
|
rs1555498163
|
|
NM_021098.3(CACNA1H):c.1426T>C (p.Leu476=)
|
|
|
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val)
|
rs918496310
|
|
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe)
|
rs911317802
|
|
NM_021098.3(CACNA1H):c.1434C>G (p.Leu478=)
|
|
|
NM_021098.3(CACNA1H):c.1438G>A (p.Ala480Thr)
|
|
|
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu)
|
|
|
NM_021098.3(CACNA1H):c.1454G>A (p.Arg485His)
|
|
|
NM_021098.3(CACNA1H):c.1464G>A (p.Lys488=)
|
rs1967974749
|
|
NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu)
|
|
|
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala)
|
rs935642453
|
|
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser)
|
rs1208126657
|
|
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp)
|
|
|
NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=)
|
|
|
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)
|
|
|
NM_021098.3(CACNA1H):c.1506C>T (p.His502=)
|
rs2141257419
|
|
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del)
|
rs1967981000
|
|
NM_021098.3(CACNA1H):c.1514G>A (p.Arg505His)
|
|
|
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.151T>G (p.Ser51Ala)
|
rs1490566920
|
|
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val)
|
rs2141257602
|
|
NM_021098.3(CACNA1H):c.1527G>A (p.Arg509=)
|
|
|
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
|
|
|
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
|
|
|
NM_021098.3(CACNA1H):c.153C>T (p.Ser51=)
|
rs1179273024
|
|
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn)
|
rs1057519554
|
|
NM_021098.3(CACNA1H):c.1554C>G (p.Val518=)
|
rs763092079
|
|
NM_021098.3(CACNA1H):c.1560C>T (p.His520=)
|
|
|
NM_021098.3(CACNA1H):c.1563C>T (p.His521=)
|
|
|
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup)
|
rs760736442
|
|
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1599T>C (p.His533=)
|
|
|
NM_021098.3(CACNA1H):c.15A>C (p.Ala5=)
|
rs1419005675
|
|
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=)
|
|
|
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.161C>T (p.Pro54Leu)
|
|
|
NM_021098.3(CACNA1H):c.1620C>A (p.Gly540=)
|
|
|
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)
|
|
|
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser)
|
|
|
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val)
|
rs1249878702
|
|
NM_021098.3(CACNA1H):c.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.1669C>A (p.Pro557Thr)
|
|
|
NM_021098.3(CACNA1H):c.1677A>G (p.Pro559=)
|
rs2141259471
|
|
NM_021098.3(CACNA1H):c.1686A>G (p.Pro562=)
|
|
|
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.1700C>T (p.Pro567Leu)
|
rs2141259768
|
|
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.1703A>T (p.Asp568Val)
|
|
|
NM_021098.3(CACNA1H):c.1704C>T (p.Asp568=)
|
|
|
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs)
|
rs2141259958
|
|
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn)
|
rs1968018663
|
|
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His)
|
|
|
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val)
|
rs1968020467
|
|
NM_021098.3(CACNA1H):c.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.1763G>C (p.Arg588Thr)
|
rs1439734393
|
|
NM_021098.3(CACNA1H):c.1767C>T (p.Ala589=)
|
|
|
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del)
|
rs1968031277
|
|
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del)
|
rs773399229
|
|
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del)
|
rs1968032311
|
|
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile)
|
rs890994381
|
|
NM_021098.3(CACNA1H):c.1797T>C (p.Ala599=)
|
rs2141261175
|
|
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)
|
|
|
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)
|
|
|
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe)
|
|
|
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val)
|
|
|
NM_021098.3(CACNA1H):c.1817C>G (p.Thr606Arg)
|
|
|
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu)
|
rs781017160
|
|
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
|
|
|
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs)
|
rs2141261620
|
|
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
|
|
|
NM_021098.3(CACNA1H):c.1845G>A (p.Thr615=)
|
rs776887979
|
|
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs)
|
|
|
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val)
|
rs867292141
|
|
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro)
|
rs1433856447
|
|
NM_021098.3(CACNA1H):c.1854C>G (p.Pro618=)
|
|
|
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=)
|
|
|
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn)
|
rs1453581368
|
|
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly)
|
|
|
NM_021098.3(CACNA1H):c.1890C>A (p.Pro630=)
|
rs755382298
|
|
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)
|
|
|
NM_021098.3(CACNA1H):c.1902G>A (p.Gly634=)
|
|
|
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)
|
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln)
|
rs61734410
|
|
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser)
|
rs1968059158
|
|
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg)
|
rs761227158
|
|
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln)
|
rs771171443
|
|
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1940G>A (p.Gly647Asp)
|
|
|
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln)
|
|
|
NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu)
|
|
|
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)
|
|
|
NM_021098.3(CACNA1H):c.1950C>T (p.Ser650=)
|
|
|
NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=)
|
|
|
NM_021098.3(CACNA1H):c.1961C>A (p.Pro654His)
|
|
|
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg)
|
rs778111473
|
|
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser)
|
rs59079584
|
|
NM_021098.3(CACNA1H):c.1968C>G (p.Pro656=)
|
rs1163122575
|
|
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del)
|
rs753052647
|
|
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met)
|
|
|
NM_021098.3(CACNA1H):c.1980C>T (p.Ile660=)
|
|
|
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met)
|
rs140979551
|
|
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile)
|
|
|
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly)
|
|
|
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala)
|
rs1968071552
|
|
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala)
|
|
|
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala)
|
|
|
NM_021098.3(CACNA1H):c.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.2010C>T (p.Gly670=)
|
|
|
NM_021098.3(CACNA1H):c.2014G>A (p.Ala672Thr)
|
|
|
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser)
|
rs1057520145
|
|
NM_021098.3(CACNA1H):c.2022C>T (p.Gly674=)
|
|
|
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs)
|
|
|
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg)
|
|
|
NM_021098.3(CACNA1H):c.2028G>T (p.Leu676=)
|
|
|
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala)
|
rs2141277713
|
|
NM_021098.3(CACNA1H):c.2034C>T (p.Gly678=)
|
|
|
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile)
|
|
|
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser)
|
|
|
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro)
|
rs2141277907
|
|
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>G (p.Pro688=)
|
|
|
NM_021098.3(CACNA1H):c.2064C>T (p.Pro688=)
|
rs766428359
|
|
NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu)
|
|
|
NM_021098.3(CACNA1H):c.2070G>A (p.Ala690=)
|
|
|
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
|
rs1596418694
|
|
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)
|
|
|
NM_021098.3(CACNA1H):c.2077C>A (p.Leu693Met)
|
|
|
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val)
|
|
|
NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=)
|
|
|
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg)
|
rs2141278256
|
|
NM_021098.3(CACNA1H):c.2092A>C (p.Lys698Gln)
|
|
|
NM_021098.3(CACNA1H):c.210C>G (p.Val70=)
|
rs2151604551
|
|
NM_021098.3(CACNA1H):c.2110A>G (p.Thr704Ala)
|
|
|
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
|
rs1596419043
|
|
NM_021098.3(CACNA1H):c.212C>A (p.Pro71Gln)
|
|
|
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)
|
rs774748739
|
|
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>C (p.Glu718Ala)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2161G>C (p.Asp721His)
|
|
|
NM_021098.3(CACNA1H):c.2165C>T (p.Ser722Leu)
|
|
|
NM_021098.3(CACNA1H):c.2174G>A (p.Arg725His)
|
|
|
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp)
|
|
|
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)
|
rs781150755
|
|
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
|
rs1596271034
|
|
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu)
|
rs1346520324
|
|
NM_021098.3(CACNA1H):c.2193G>A (p.Thr731=)
|
rs374261511
|
|
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu)
|
|
|
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.2203C>G (p.Arg735Gly)
|
rs191938566
|
|
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
|
rs1555513044
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
|
rs1402942281
|
|
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His)
|
rs377176081
|
|
NM_021098.3(CACNA1H):c.2233C>T (p.Pro745Ser)
|
|
|
NM_021098.3(CACNA1H):c.2237C>T (p.Pro746Leu)
|
|
|
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys)
|
rs369566757
|
|
NM_021098.3(CACNA1H):c.2243C>T (p.Ala748Val)
|
|
|
NM_021098.3(CACNA1H):c.2246C>G (p.Thr749Arg)
|
rs749345577
|
|
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=)
|
rs774505050
|
|
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala)
|
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln)
|
|
|
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala)
|
rs767816214
|
|
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs)
|
|
|
NM_021098.3(CACNA1H):c.2289A>C (p.Ala763=)
|
|
|
NM_021098.3(CACNA1H):c.2295G>C (p.Gln765His)
|
|
|
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)
|
|
|
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser)
|
rs1428706132
|
|
NM_021098.3(CACNA1H):c.2305C>T (p.Pro769Ser)
|
|
|
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys)
|
|
|
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly)
|
rs2141280761
|
|
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg)
|
|
|
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
|
rs1596421279
|
|
NM_021098.3(CACNA1H):c.2322G>T (p.Trp774Cys)
|
rs1451924937
|
|
NM_021098.3(CACNA1H):c.2330G>A (p.Arg777His)
|
|
|
NM_021098.3(CACNA1H):c.2332C>T (p.Leu778Phe)
|
|
|
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser)
|
|
|
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)
|
rs1473122688
|
|
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.2350G>A (p.Gly784Ser)
|
|
|
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser)
|
rs747178657
|
|
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
|
|
|
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly)
|
rs3751664
|
|
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del)
|
rs1420201619
|
|
NM_021098.3(CACNA1H):c.2379G>A (p.Lys793=)
|
rs755411250
|
|
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn)
|
rs1567521021
|
|
NM_021098.3(CACNA1H):c.2388C>T (p.Ser796=)
|
|
|
NM_021098.3(CACNA1H):c.2397C>T (p.Ile799=)
|
|
|
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile)
|
rs2141281744
|
|
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr)
|
rs2141281763
|
|
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe)
|
|
|
NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)
|
|
|
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu)
|
|
|
NM_021098.3(CACNA1H):c.2421G>C (p.Thr807=)
|
rs761461229
|
|
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln)
|
rs1555513209
|
|
NM_021098.3(CACNA1H):c.243C>T (p.Phe81=)
|
|
|
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr)
|
|
|
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+3G>A
|
rs1596422577
|
|
NM_021098.3(CACNA1H):c.2451+4C>G
|
rs764605459
|
|
NM_021098.3(CACNA1H):c.2451+5G>A
|
|
|
NM_021098.3(CACNA1H):c.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.2452-3C>T
|
rs372018213
|
|
NM_021098.3(CACNA1H):c.2452-5T>A
|
rs1471116016
|
|
NM_021098.3(CACNA1H):c.2452-5T>G
|
|
|
NM_021098.3(CACNA1H):c.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.245G>A (p.Cys82Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro)
|
rs2141288117
|
|
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs)
|
|
|
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.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.2482A>G (p.Ser828Gly)
|
|
|
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=)
|
rs368916421
|
|
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile)
|
rs1404959892
|
|
NM_021098.3(CACNA1H):c.249C>G (p.Leu83=)
|
|
|
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly)
|
|
|
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys)
|
|
|
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val)
|
|
|
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln)
|
rs1223248915
|
|
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg)
|
|
|
NM_021098.3(CACNA1H):c.2532G>A (p.Leu844=)
|
|
|
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
|
rs1596428768
|
|
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
|
rs1596428784
|
|
NM_021098.3(CACNA1H):c.2538C>A (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2540G>A (p.Cys847Tyr)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=)
|
rs1242284062
|
|
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=)
|
rs2141289134
|
|
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=)
|
rs377029056
|
|
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys)
|
rs2141289290
|
|
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)
|
|
|
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser)
|
rs1968541498
|
|
NM_021098.3(CACNA1H):c.2567C>T (p.Pro856Leu)
|
|
|
NM_021098.3(CACNA1H):c.2574C>T (p.Asn858=)
|
|
|
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys)
|
rs747426357
|
|
NM_021098.3(CACNA1H):c.2592C>T (p.Ile864=)
|
|
|
NM_021098.3(CACNA1H):c.2595G>A (p.Val865=)
|
|
|
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+5G>A
|
rs1968547662
|
|
NM_021098.3(CACNA1H):c.2603+5G>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.2604-3C>T
|
rs1489658003
|
|
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.260C>T (p.Thr87Met)
|
|
|
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)
|
|
|
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met)
|
rs375605628
|
|
NM_021098.3(CACNA1H):c.2628G>A (p.Ala876=)
|
|
|
NM_021098.3(CACNA1H):c.262C>T (p.Arg88Trp)
|
|
|
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly)
|
rs547376627
|
|
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln)
|
rs1375491341
|
|
NM_021098.3(CACNA1H):c.2649G>A (p.Leu883=)
|
rs2141296783
|
|
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile)
|
|
|
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln)
|
|
|
NM_021098.3(CACNA1H):c.2662C>T (p.Leu888=)
|
|
|
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro)
|
|
|
NM_021098.3(CACNA1H):c.2676G>A (p.Leu892=)
|
rs567419788
|
|
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu)
|
rs2141297110
|
|
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu)
|
|
|
NM_021098.3(CACNA1H):c.270C>T (p.Arg90=)
|
rs577235589
|
|
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu)
|
|
|
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr)
|
|
|
NM_021098.3(CACNA1H):c.2733C>T (p.Thr911=)
|
|
|
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=)
|
|
|
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
|
rs1043511168
|
|
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp)
|
|
|
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.2770C>T (p.Leu924Phe)
|
|
|
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu)
|
|
|
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.2789+6C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-18C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-24_2790-2del
|
rs767709133
|
|
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile)
|
|
|
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe)
|
rs1471872554
|
|
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile)
|
|
|
NM_021098.3(CACNA1H):c.283C>A (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile)
|
|
|
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser)
|
rs1339365288
|
|
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn)
|
|
|
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu)
|
|
|
NM_021098.3(CACNA1H):c.285G>C (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2862G>A (p.Arg954=)
|
|
|
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
|
|
|
NM_021098.3(CACNA1H):c.2877C>A (p.Ser959=)
|
|
|
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val)
|
rs1299774056
|
|
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys)
|
|
|
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val)
|
rs1968823371
|
|
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile)
|
|
|
NM_021098.3(CACNA1H):c.2907+18del
|
rs2141305998
|
|
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.2932G>A (p.Val978Met)
|
|
|
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>G (p.Asn982Lys)
|
|
|
NM_021098.3(CACNA1H):c.2946C>T (p.Asn982=)
|
rs368824465
|
|
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val)
|
rs766946572
|
|
NM_021098.3(CACNA1H):c.2955C>T (p.Ala985=)
|
rs997608038
|
|
NM_021098.3(CACNA1H):c.2958C>G (p.Ser986=)
|
|
|
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile)
|
rs891172463
|
|
NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=)
|
|
|
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
|
|
|
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val)
|
rs1265393669
|
|
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.299+7T>A
|
|
|
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe)
|
rs768438272
|
|
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.300-3C>T
|
rs1596380517
|
|
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.3011A>G (p.Tyr1004Cys)
|
|
|
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe)
|
rs1242224134
|
|
NM_021098.3(CACNA1H):c.3018C>T (p.Leu1006=)
|
|
|
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val)
|
|
|
NM_021098.3(CACNA1H):c.3028C>T (p.Leu1010=)
|
rs2141308915
|
|
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly)
|
|
|
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val)
|
rs2141309026
|
|
NM_021098.3(CACNA1H):c.3039C>T (p.Ile1013=)
|
rs1055891812
|
|
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala)
|
|
|
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu)
|
rs771994752
|
|
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
|
|
|
NM_021098.3(CACNA1H):c.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.306C>T (p.Phe102=)
|
|
|
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>G (p.Asp1028Glu)
|
rs1345041119
|
|
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.3097A>G (p.Lys1033Glu)
|
|
|
NM_021098.3(CACNA1H):c.3105G>A (p.Ser1035=)
|
|
|
NM_021098.3(CACNA1H):c.3108C>T (p.Val1036=)
|
|
|
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu)
|
rs374946880
|
|
NM_021098.3(CACNA1H):c.3123C>T (p.Asp1041=)
|
|
|
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser)
|
|
|
NM_021098.3(CACNA1H):c.3129C>G (p.His1043Gln)
|
|
|
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln)
|
|
|
NM_021098.3(CACNA1H):c.3135C>T (p.Leu1045=)
|
|
|
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys)
|
rs1555514736
|
|
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)
|
|
|
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del)
|
rs1555514742
|
|
NM_021098.3(CACNA1H):c.3154+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.3154+4C>A
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>G
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-14C>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.3178G>A (p.Val1060Met)
|
rs369966669
|
|
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser)
|
rs1968957429
|
|
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn)
|
rs2141316062
|
|
NM_021098.3(CACNA1H):c.3186C>T (p.Pro1062=)
|
rs1465734432
|
|
NM_021098.3(CACNA1H):c.3192G>T (p.Gly1064=)
|
|
|
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)
|
|
|
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.3214C>T (p.Leu1072=)
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser)
|
|
|
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu)
|
rs1288170321
|
|
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu)
|
rs772211003
|
|
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val)
|
rs1368323486
|
|
NM_021098.3(CACNA1H):c.3237C>T (p.Cys1079=)
|
|
|
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro)
|
rs776256025
|
|
NM_021098.3(CACNA1H):c.3249G>A (p.Thr1083=)
|
|
|
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser)
|
rs1049677203
|
|
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3261C>T (p.Thr1087=)
|
rs57606792
|
|
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
|
|
|
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=)
|
rs201113434
|
|
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu)
|
rs1184994482
|
|
NM_021098.3(CACNA1H):c.327A>C (p.Val109=)
|
rs775473074
|
|
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met)
|
rs1567531841
|
|
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
|
|
|
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_021098.3(CACNA1H):c.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.3317G>A (p.Gly1106Asp)
|
|
|
NM_021098.3(CACNA1H):c.3327C>T (p.Ser1109=)
|
|
|
NM_021098.3(CACNA1H):c.332T>C (p.Met111Thr)
|
|
|
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
|
rs59529743
|
|
NM_021098.3(CACNA1H):c.3333G>A (p.Gly1111=)
|
|
|
NM_021098.3(CACNA1H):c.3336C>A (p.Asp1112Glu)
|
|
|
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg)
|
|
|
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)
|
|
|
NM_021098.3(CACNA1H):c.3345G>C (p.Leu1115=)
|
|
|
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu)
|
|
|
NM_021098.3(CACNA1H):c.3363+12C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+15C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+3A>G
|
|
|
NM_021098.3(CACNA1H):c.3364-5C>A
|
rs768382135
|
|
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr)
|
rs1317286644
|
|
NM_021098.3(CACNA1H):c.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.3387_3395del (p.Cys1129_Pro1131del)
|
rs1255783381
|
|
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)
|
|
|
NM_021098.3(CACNA1H):c.3390C>A (p.Ala1130=)
|
|
|
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala)
|
rs377297229
|
|
NM_021098.3(CACNA1H):c.3393C>T (p.Pro1131=)
|
|
|
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp)
|
|
|
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr)
|
|
|
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn)
|
rs1205390921
|
|
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.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.3445G>T (p.Gly1149Cys)
|
rs753696656
|
|
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala)
|
|
|
NM_021098.3(CACNA1H):c.3450T>C (p.Arg1150=)
|
|
|
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro)
|
|
|
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.3488G>A (p.Arg1163His)
|
|
|
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser)
|
rs753966852
|
|
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=)
|
|
|
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly)
|
rs1379085668
|
|
NM_021098.3(CACNA1H):c.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.3533A>G (p.Glu1178Gly)
|
rs2141327353
|
|
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly)
|
|
|
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)
|
|
|
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=)
|
rs1342020189
|
|
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr)
|
|
|
NM_021098.3(CACNA1H):c.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.3566G>A (p.Arg1189His)
|
rs1233148543
|
|
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val)
|
rs1461904626
|
|
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter)
|
|
|
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_021098.3(CACNA1H):c.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.3599A>C (p.Asp1200Ala)
|
rs1555515661
|
|
NM_021098.3(CACNA1H):c.3600C>T (p.Asp1200=)
|
rs1555515663
|
|
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr)
|
rs1185269498
|
|
NM_021098.3(CACNA1H):c.3601C>T (p.Pro1201Ser)
|
|
|
NM_021098.3(CACNA1H):c.3612G>A (p.Leu1204=)
|
|
|
NM_021098.3(CACNA1H):c.3613C>A (p.Arg1205=)
|
rs779622633
|
|
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3615G>A (p.Arg1205=)
|
|
|
NM_021098.3(CACNA1H):c.3618G>T (p.Pro1206=)
|
rs771412437
|
|
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe)
|
rs1969139516
|
|
NM_021098.3(CACNA1H):c.3633T>C (p.Pro1211=)
|
|
|
NM_021098.3(CACNA1H):c.3651C>A (p.Arg1217=)
|
|
|
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg)
|
rs746322724
|
|
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val)
|
|
|
NM_021098.3(CACNA1H):c.3670C>T (p.Leu1224=)
|
rs1011421153
|
|
NM_021098.3(CACNA1H):c.3679G>A (p.Asp1227Asn)
|
|
|
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=)
|
rs1555515806
|
|
NM_021098.3(CACNA1H):c.3691C>T (p.Arg1231Cys)
|
|
|
NM_021098.3(CACNA1H):c.3692G>A (p.Arg1231His)
|
|
|
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val)
|
rs780672769
|
|
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His)
|
rs768716174
|
|
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg)
|
rs1176658784
|
|
NM_021098.3(CACNA1H):c.3720C>G (p.Ala1240=)
|
rs764674205
|
|
NM_021098.3(CACNA1H):c.3720C>T (p.Ala1240=)
|
|
|
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3727G>C (p.Asp1243His)
|
rs756447194
|
|
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del)
|
rs780993667
|
|
NM_021098.3(CACNA1H):c.3733G>A (p.Asp1245Asn)
|
|
|
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro)
|
rs1969157452
|
|
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)
|
rs571145188
|
|
NM_021098.3(CACNA1H):c.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.3745-14G>A
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-14G>T
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-15C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-5C>A
|
rs1405799623
|
|
NM_021098.3(CACNA1H):c.3747C>T (p.Ser1249=)
|
rs773881668
|
|
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp)
|
rs761298608
|
|
NM_021098.3(CACNA1H):c.3753C>T (p.Cys1251=)
|
rs1222478322
|
|
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)
|
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
NM_021098.3(CACNA1H):c.375C>T (p.Asp125=)
|
rs768580487
|
|
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala)
|
rs2141335147
|
|
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
|
rs189425202
|
|
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=)
|
rs750607074
|
|
NM_021098.3(CACNA1H):c.3805C>T (p.Arg1269Cys)
|
|
|
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val)
|
rs1969249888
|
|
NM_021098.3(CACNA1H):c.3825C>T (p.Tyr1275=)
|
|
|
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys)
|
|
|
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3845+14G>T
|
|
|
NM_021098.3(CACNA1H):c.3845+17A>G
|
|
|
NM_021098.3(CACNA1H):c.3845+3G>A
|
rs1969252611
|
|
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.3846-32_3846-12del
|
|
|
NM_021098.3(CACNA1H):c.3849C>T (p.Phe1283=)
|
|
|
NM_021098.3(CACNA1H):c.384C>T (p.Cys128=)
|
|
|
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His)
|
rs748613561
|
|
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp)
|
rs1359854181
|
|
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe)
|
rs776740325
|
|
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter)
|
|
|
NM_021098.3(CACNA1H):c.3867G>C (p.Lys1289Asn)
|
rs375135684
|
|
NM_021098.3(CACNA1H):c.3869T>G (p.Val1290Gly)
|
rs757286114
|
|
NM_021098.3(CACNA1H):c.3877C>G (p.His1293Asp)
|
|
|
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)
|
|
|
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val)
|
|
|
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)
|
rs755717160
|
|
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His)
|
rs2141338845
|
|
NM_021098.3(CACNA1H):c.3900C>T (p.Val1300=)
|
rs747491713
|
|
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
|
|
|
NM_021098.3(CACNA1H):c.3903C>G (p.Leu1301=)
|
|
|
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile)
|
rs200904795
|
|
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.3907T>C (p.Phe1303Leu)
|
rs2141339082
|
|
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.3916C>G (p.Leu1306Val)
|
|
|
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe)
|
rs751450496
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
NM_021098.3(CACNA1H):c.3921C>T (p.Asn1307=)
|
rs377019810
|
|
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)
|
|
|
NM_021098.3(CACNA1H):c.3930C>T (p.Thr1310=)
|
|
|
NM_021098.3(CACNA1H):c.3937C>T (p.Leu1313=)
|
rs757747784
|
|
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly)
|
|
|
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)
|
|
|
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His)
|
|
|
NM_021098.3(CACNA1H):c.3969+16C>G
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.3969+16C>T
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.3969+1G>A
|
rs1303395495
|
|
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.3970-8C>G
|
|
|
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp)
|
rs777616508
|
|
NM_021098.3(CACNA1H):c.3978C>T (p.Val1326=)
|
rs1212594226
|
|
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg)
|
rs770769436
|
|
NM_021098.3(CACNA1H):c.3990C>T (p.Val1330=)
|
|
|
NM_021098.3(CACNA1H):c.3993C>T (p.Ser1331=)
|
|
|
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser)
|
rs1969322876
|
|
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met)
|
|
|
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=)
|
rs372696265
|
|
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val)
|
|
|
NM_021098.3(CACNA1H):c.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+15G>T
|
rs375169106
|
|
NM_021098.3(CACNA1H):c.4038+17G>T
|
rs578041058
|
|
NM_021098.3(CACNA1H):c.4038+4C>A
|
|
|
NM_021098.3(CACNA1H):c.4038+6G>C
|
rs112068805
|
|
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.4039-20_4039-19delinsAA
|
|
|
NM_021098.3(CACNA1H):c.403A>G (p.Ile135Val)
|
|
|
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe)
|
rs1184282257
|
|
NM_021098.3(CACNA1H):c.4050G>A (p.Leu1350=)
|
|
|
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro)
|
|
|
NM_021098.3(CACNA1H):c.4096C>T (p.Leu1366=)
|
|
|
NM_021098.3(CACNA1H):c.4099C>T (p.Leu1367=)
|
|
|
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser)
|
rs1270361787
|
|
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly)
|
|
|
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.4126C>G (p.Leu1376Val)
|
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
|
|
|
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly)
|
rs566220434
|
|
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser)
|
|
|
NM_021098.3(CACNA1H):c.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.4196G>A (p.Arg1399His)
|
rs1457901172
|
|
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+3G>A
|
rs1241517773
|
|
NM_021098.3(CACNA1H):c.4223+6G>T
|
rs1969373645
|
|
NM_021098.3(CACNA1H):c.4223+8del
|
|
|
NM_021098.3(CACNA1H):c.4223+8dup
|
rs545116263
|
|
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>G
|
|
|
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.422C>T (p.Ala141Val)
|
|
|
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_021098.3(CACNA1H):c.423C>T (p.Ala141=)
|
|
|
NM_021098.3(CACNA1H):c.4242G>A (p.Pro1414=)
|
|
|
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp)
|
rs759233103
|
|
NM_021098.3(CACNA1H):c.4245C>A (p.Gly1415=)
|
rs369232507
|
|
NM_021098.3(CACNA1H):c.4245C>T (p.Gly1415=)
|
|
|
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe)
|
|
|
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu)
|
rs2141197660
|
|
NM_021098.3(CACNA1H):c.4263G>A (p.Glu1421=)
|
|
|
NM_021098.3(CACNA1H):c.4269G>C (p.Leu1423=)
|
rs554182970
|
|
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)
|
|
|
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His)
|
|
|
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val)
|
|
|
NM_021098.3(CACNA1H):c.4299C>T (p.Ile1433=)
|
|
|
NM_021098.3(CACNA1H):c.4305C>T (p.Leu1435=)
|
|
|
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr)
|
rs2141346266
|
|
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)
|
|
|
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val)
|
rs1379672193
|
|
NM_021098.3(CACNA1H):c.4317C>T (p.Ala1439=)
|
|
|
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile)
|
|
|
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala)
|
rs1567541260
|
|
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile)
|
|
|
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu)
|
rs777667628
|
|
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser)
|
|
|
NM_021098.3(CACNA1H):c.4344T>C (p.Gly1448=)
|
|
|
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met)
|
rs965904368
|
|
NM_021098.3(CACNA1H):c.4350+13del
|
rs2141346672
|
|
NM_021098.3(CACNA1H):c.4350+19C>T
|
|
|
NM_021098.3(CACNA1H):c.4350+1G>A
|
|
|
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.4369T>C (p.Tyr1457His)
|
|
|
NM_021098.3(CACNA1H):c.4370A>T (p.Tyr1457Phe)
|
rs747837740
|
|
NM_021098.3(CACNA1H):c.4391C>T (p.Thr1464Ile)
|
|
|
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly)
|
|
|
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser)
|
|
|
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
|
|
|
NM_021098.3(CACNA1H):c.4425C>A (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4425C>T (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg)
|
rs1567542033
|
|
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser)
|
rs181140276
|
|
NM_021098.3(CACNA1H):c.4435C>T (p.Arg1479Cys)
|
|
|
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His)
|
|
|
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly)
|
|
|
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val)
|
rs750887213
|
|
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys)
|
|
|
NM_021098.3(CACNA1H):c.444G>T (p.Ala148=)
|
rs560099947
|
|
NM_021098.3(CACNA1H):c.4458C>T (p.Asn1486=)
|
|
|
NM_021098.3(CACNA1H):c.4476+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4476+6C>T
|
rs1969458295
|
|
NM_021098.3(CACNA1H):c.4477-10T>C
|
|
|
NM_021098.3(CACNA1H):c.4482G>A (p.Leu1494=)
|
rs767021614
|
|
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys)
|
rs1969476340
|
|
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe)
|
|
|
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn)
|
rs1969476982
|
|
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=)
|
|
|
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)
|
|
|
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=)
|
rs1969479808
|
|
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)
|
rs1966873640
|
|
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile)
|
rs1462779871
|
|
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly)
|
|
|
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del)
|
rs775597863
|
|
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+5G>A
|
|
|
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.4580A>G (p.His1527Arg)
|
rs2141351607
|
|
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser)
|
|
|
NM_021098.3(CACNA1H):c.4587C>G (p.Pro1529=)
|
rs1410934715
|
|
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg)
|
rs1969502459
|
|
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg)
|
rs2141351732
|
|
NM_021098.3(CACNA1H):c.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.4634T>C (p.Phe1545Ser)
|
rs2141352066
|
|
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
|
|
|
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile)
|
rs1159226662
|
|
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=)
|
rs752944065
|
|
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp)
|
rs967037376
|
|
NM_021098.3(CACNA1H):c.4709C>G (p.Ala1570Gly)
|
|
|
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
|
rs558718048
|
|
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)
|
|
|
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=)
|
rs777692032
|
|
NM_021098.3(CACNA1H):c.471C>T (p.Ala157=)
|
|
|
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del)
|
rs1447090901
|
|
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln)
|
|
|
NM_021098.3(CACNA1H):c.4728G>A (p.Lys1576=)
|
rs755610106
|
|
NM_021098.3(CACNA1H):c.472T>C (p.Leu158=)
|
|
|
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg)
|
rs1969518741
|
|
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.4752G>T (p.Arg1584Ser)
|
|
|
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu)
|
rs774569737
|
|
NM_021098.3(CACNA1H):c.4759+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4759+12_4759+23del
|
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[2]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[4]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4759+17G>A
|
rs1221457861
|
|
NM_021098.3(CACNA1H):c.4759+1G>A
|
rs1406256818
|
|
NM_021098.3(CACNA1H):c.4759+20G>A
|
|
|
NM_021098.3(CACNA1H):c.4759+22_4759+33del
|
|
|
NM_021098.3(CACNA1H):c.4759+4A>G
|
rs1567543703
|
|
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)
|
|
|
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.4760-1G>T
|
rs1173893014
|
|
NM_021098.3(CACNA1H):c.4760-4C>G
|
rs377601289
|
|
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn)
|
|
|
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala)
|
rs1555517834
|
|
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
|
rs1596462609
|
|
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu)
|
rs1969579859
|
|
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
|
|
|
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+1G>T
|
|
|
NM_021098.3(CACNA1H):c.4777+5C>G
|
rs370513262
|
|
NM_021098.3(CACNA1H):c.4777+6G>C
|
|
|
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.4780_4781delinsTT (p.Ala1594Phe)
|
rs1555518356
|
|
NM_021098.3(CACNA1H):c.4782C>G (p.Ala1594=)
|
|
|
NM_021098.3(CACNA1H):c.4786C>T (p.Arg1596Cys)
|
rs1248000181
|
|
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>G (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4803C>T (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)
|
|
|
NM_021098.3(CACNA1H):c.480G>C (p.Leu160=)
|
rs757136301
|
|
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu)
|
rs761945003
|
|
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser)
|
|
|
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)
|
rs377532485
|
|
NM_021098.3(CACNA1H):c.4821C>T (p.Arg1607=)
|
|
|
NM_021098.3(CACNA1H):c.4824C>G (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4824C>T (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro)
|
|
|
NM_021098.3(CACNA1H):c.4833C>T (p.His1611=)
|
|
|
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)
|
|
|
NM_021098.3(CACNA1H):c.4836G>T (p.Ser1612=)
|
rs58033848
|
|
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)
|
rs119454947
|
|
NM_021098.3(CACNA1H):c.483C>T (p.Phe161=)
|
|
|
NM_021098.3(CACNA1H):c.4842C>T (p.Cys1614=)
|
|
|
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln)
|
|
|
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=)
|
rs534178272
|
|
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro)
|
rs1969748016
|
|
NM_021098.3(CACNA1H):c.4866C>T (p.Phe1622=)
|
|
|
NM_021098.3(CACNA1H):c.4875C>T (p.Phe1625=)
|
|
|
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe)
|
|
|
NM_021098.3(CACNA1H):c.4884T>C (p.Cys1628=)
|
|
|
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala)
|
rs1555518486
|
|
NM_021098.3(CACNA1H):c.4890C>T (p.Asn1630=)
|
rs758400171
|
|
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)
|
rs1450404169
|
|
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe)
|
rs58146518
|
|
NM_021098.3(CACNA1H):c.4905C>T (p.Ser1635=)
|
|
|
NM_021098.3(CACNA1H):c.4911G>A (p.Glu1637=)
|
|
|
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
|
rs1596466547
|
|
NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=)
|
|
|
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln)
|
rs766396848
|
|
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+4G>A
|
rs1969758497
|
|
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.4929+8C>T
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4930-3C>A
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4930-3C>T
|
rs1969886500
|
|
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.4938C>T (p.Asp1646=)
|
|
|
NM_021098.3(CACNA1H):c.4944C>A (p.Ala1648=)
|
rs1448726368
|
|
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe)
|
rs1969888724
|
|
NM_021098.3(CACNA1H):c.4947C>G (p.Leu1649=)
|
|
|
NM_021098.3(CACNA1H):c.4950G>A (p.Lys1650=)
|
rs1969889318
|
|
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser)
|
rs2141374211
|
|
NM_021098.3(CACNA1H):c.4962C>T (p.Tyr1654=)
|
|
|
NM_021098.3(CACNA1H):c.4965C>A (p.Val1655=)
|
|
|
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr)
|
|
|
NM_021098.3(CACNA1H):c.4983C>T (p.Val1661=)
|
|
|
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val)
|
rs1317563201
|
|
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)
|
|
|
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His)
|
rs369914175
|
|
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp)
|
rs760740366
|
|
NM_021098.3(CACNA1H):c.5025G>C (p.Arg1675=)
|
rs2141374709
|
|
NM_021098.3(CACNA1H):c.5034G>A (p.Lys1678=)
|
|
|
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)
|
|
|
NM_021098.3(CACNA1H):c.5039+17C>T
|
rs201391366
|
|
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.5062A>G (p.Ile1688Val)
|
|
|
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val)
|
rs755567471
|
|
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.5084G>C (p.Gly1695Ala)
|
rs1969920469
|
|
NM_021098.3(CACNA1H):c.5085C>T (p.Gly1695=)
|
|
|
NM_021098.3(CACNA1H):c.508A>G (p.Thr170Ala)
|
|
|
NM_021098.3(CACNA1H):c.5097G>A (p.Glu1699=)
|
|
|
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter)
|
rs1555519084
|
|
NM_021098.3(CACNA1H):c.509C>T (p.Thr170Met)
|
|
|
NM_021098.3(CACNA1H):c.5106G>A (p.Glu1702=)
|
rs2141376316
|
|
NM_021098.3(CACNA1H):c.510G>A (p.Thr170=)
|
|
|
NM_021098.3(CACNA1H):c.5124C>T (p.Pro1708=)
|
|
|
NM_021098.3(CACNA1H):c.5127C>T (p.Ile1709=)
|
rs1555519102
|
|
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del)
|
rs1596470148
|
|
NM_021098.3(CACNA1H):c.5142C>T (p.Ile1714=)
|
|
|
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile)
|
|
|
NM_021098.3(CACNA1H):c.5154C>T (p.Arg1718=)
|
|
|
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val)
|
|
|
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+5G>A
|
rs1567550121
|
|
NM_021098.3(CACNA1H):c.5173+5GTGCCCGC[3]
|
|
|
NM_021098.3(CACNA1H):c.5173+9C>G
|
rs1018925405
|
|
NM_021098.3(CACNA1H):c.5174-16C>T
|
rs1483955081
|
|
NM_021098.3(CACNA1H):c.5174-20C>G
|
|
|
NM_021098.3(CACNA1H):c.5174-4dup
|
rs768561419
|
|
NM_021098.3(CACNA1H):c.5174-6C>A
|
|
|
NM_021098.3(CACNA1H):c.5174-8G>A
|
rs200481928
|
|
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.5198C>G (p.Thr1733Arg)
|
|
|
NM_021098.3(CACNA1H):c.5199G>A (p.Thr1733=)
|
|
|
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser)
|
rs1567495146
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
NM_021098.3(CACNA1H):c.5212C>T (p.Leu1738=)
|
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val)
|
|
|
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.5255T>C (p.Leu1752Pro)
|
rs1970075682
|
|
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
|
|
|
NM_021098.3(CACNA1H):c.5274C>G (p.Leu1758=)
|
|
|
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del)
|
rs1567552660
|
|
NM_021098.3(CACNA1H):c.5286C>T (p.Ile1762=)
|
rs1596473364
|
|
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val)
|
rs200775729
|
|
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+16G>A
|
|
|
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.5347G>A (p.Glu1783Lys)
|
rs1354832663
|
|
NM_021098.3(CACNA1H):c.534C>T (p.Ile178=)
|
|
|
NM_021098.3(CACNA1H):c.5352C>T (p.Gly1784=)
|
|
|
NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=)
|
|
|
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln)
|
rs769283823
|
|
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=)
|
rs868670809
|
|
NM_021098.3(CACNA1H):c.5370C>T (p.Thr1790=)
|
|
|
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr)
|
|
|
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.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.5406C>A (p.Phe1802Leu)
|
rs537055062
|
|
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met)
|
|
|
NM_021098.3(CACNA1H):c.5412G>A (p.Val1804=)
|
rs1474330900
|
|
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg)
|
rs2141392324
|
|
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.5445+20C>G
|
|
|
NM_021098.3(CACNA1H):c.5445+4C>A
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+4C>G
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+5C>T
|
rs963438880
|
|
NM_021098.3(CACNA1H):c.5446-14G>C
|
|
|
NM_021098.3(CACNA1H):c.5446-19C>T
|
|
|
NM_021098.3(CACNA1H):c.5446-9C>A
|
rs1596475466
|
|
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.5455C>T (p.Arg1819Cys)
|
|
|
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.546-2A>G
|
|
|
NM_021098.3(CACNA1H):c.546-3dup
|
|
|
NM_021098.3(CACNA1H):c.5463C>T (p.Cys1821=)
|
rs1328976081
|
|
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys)
|
rs1970194241
|
|
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn)
|
rs2141393648
|
|
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu)
|
|
|
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu)
|
rs763029586
|
|
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg)
|
rs202070652
|
|
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)
|
|
|
NM_021098.3(CACNA1H):c.5490C>T (p.Ser1830=)
|
rs776339332
|
|
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val)
|
rs61732194
|
|
NM_021098.3(CACNA1H):c.54G>A (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.54G>T (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val)
|
|
|
NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=)
|
|
|
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)
|
|
|
NM_021098.3(CACNA1H):c.5514C>G (p.Val1838=)
|
|
|
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met)
|
|
|
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup)
|
rs2141394048
|
|
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu)
|
rs986566182
|
|
NM_021098.3(CACNA1H):c.5556G>A (p.Val1852=)
|
|
|
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu)
|
|
|
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
|
|
|
NM_021098.3(CACNA1H):c.5574G>A (p.Val1858=)
|
rs2141394320
|
|
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg)
|
rs2141394365
|
|
NM_021098.3(CACNA1H):c.5587C>T (p.Leu1863=)
|
|
|
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg)
|
|
|
NM_021098.3(CACNA1H):c.5619T>C (p.Asp1873=)
|
|
|
NM_021098.3(CACNA1H):c.5628G>C (p.Leu1876=)
|
rs1284603054
|
|
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del)
|
|
|
NM_021098.3(CACNA1H):c.5631C>T (p.Asp1877=)
|
|
|
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)
|
|
|
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=)
|
rs58632975
|
|
NM_021098.3(CACNA1H):c.5657A>G (p.Gln1886Arg)
|
|
|
NM_021098.3(CACNA1H):c.5659G>A (p.Gly1887Ser)
|
|
|
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>A (p.Arg1892Ser)
|
rs1292896960
|
|
NM_021098.3(CACNA1H):c.5674C>T (p.Arg1892Cys)
|
|
|
NM_021098.3(CACNA1H):c.5675G>A (p.Arg1892His)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu)
|
rs1175587489
|
|
NM_021098.3(CACNA1H):c.5683G>C (p.Asp1895His)
|
|
|
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr)
|
rs1324632906
|
|
NM_021098.3(CACNA1H):c.568G>A (p.Gly190Arg)
|
|
|
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu)
|
|
|
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)
|
|
|
NM_021098.3(CACNA1H):c.5700C>G (p.Pro1900=)
|
rs546638839
|
|
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter)
|
rs1172357662
|
|
NM_021098.3(CACNA1H):c.5722G>A (p.Ala1908Thr)
|
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
NM_021098.3(CACNA1H):c.5724C>T (p.Ala1908=)
|
|
|
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
|
|
|
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
|
|
|
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu)
|
rs1555520320
|
|
NM_021098.3(CACNA1H):c.5760C>G (p.Ser1920=)
|
rs144424401
|
|
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile)
|
rs931586782
|
|
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe)
|
rs1366597055
|
|
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.577G>C (p.Val193Leu)
|
|
|
NM_021098.3(CACNA1H):c.577G>T (p.Val193Leu)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu)
|
|
|
NM_021098.3(CACNA1H):c.5784C>G (p.Pro1928=)
|
rs767261951
|
|
NM_021098.3(CACNA1H):c.5784C>T (p.Pro1928=)
|
|
|
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser)
|
|
|
NM_021098.3(CACNA1H):c.579G>A (p.Val193=)
|
rs2141202280
|
|
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu)
|
rs746487526
|
|
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)
|
|
|
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp)
|
rs1291910282
|
|
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser)
|
rs1970223117
|
|
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr)
|
rs1413245721
|
|
NM_021098.3(CACNA1H):c.5833C>T (p.Pro1945Ser)
|
|
|
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala)
|
|
|
NM_021098.3(CACNA1H):c.5844G>C (p.Leu1948=)
|
|
|
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu)
|
|
|
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val)
|
rs1970226967
|
|
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg)
|
|
|
NM_021098.3(CACNA1H):c.5871G>A (p.Gly1957=)
|
|
|
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val)
|
rs780614055
|
|
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
|
|
|
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.5887+5G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-17A>G
|
|
|
NM_021098.3(CACNA1H):c.5888-18G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-3del
|
|
|
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala)
|
|
|
NM_021098.3(CACNA1H):c.588G>A (p.Ser196=)
|
|
|
NM_021098.3(CACNA1H):c.588G>C (p.Ser196=)
|
rs749822770
|
|
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg)
|
rs996694379
|
|
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys)
|
rs2141398956
|
|
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe)
|
rs550577430
|
|
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=)
|
|
|
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val)
|
|
|
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe)
|
|
|
NM_021098.3(CACNA1H):c.5937C>T (p.Leu1979=)
|
|
|
NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=)
|
|
|
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=)
|
|
|
NM_021098.3(CACNA1H):c.5970G>A (p.Arg1990=)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg)
|
rs753397534
|
|
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser)
|
rs558813483
|
|
NM_021098.3(CACNA1H):c.5974G>C (p.Gly1992Arg)
|
|
|
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.59C>G (p.Pro20Arg)
|
|
|
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)
|
|
|
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6002G>T (p.Arg2001Leu)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)
|
|
|
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)
|
|
|
NM_021098.3(CACNA1H):c.6009A>T (p.Thr2003=)
|
|
|
NM_021098.3(CACNA1H):c.600C>T (p.Thr200=)
|
|
|
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp)
|
|
|
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser)
|
rs72552056
|
|
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu)
|
rs368553931
|
|
NM_021098.3(CACNA1H):c.6021C>T (p.Pro2007=)
|
|
|
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val)
|
rs1970273640
|
|
NM_021098.3(CACNA1H):c.6031C>A (p.Arg2011=)
|
|
|
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp)
|
rs753241781
|
|
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)
|
|
|
NM_021098.3(CACNA1H):c.6039C>T (p.Leu2013=)
|
|
|
NM_021098.3(CACNA1H):c.6048+12C>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17G>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
NM_021098.3(CACNA1H):c.6048+2_6048+5del
|
rs1172256364
|
|
NM_021098.3(CACNA1H):c.6049-12A>G
|
|
|
NM_021098.3(CACNA1H):c.6049-19T>C
|
|
|
NM_021098.3(CACNA1H):c.6049-7C>G
|
rs1970353381
|
|
NM_021098.3(CACNA1H):c.6049-8C>T
|
|
|
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala)
|
rs2141405874
|
|
NM_021098.3(CACNA1H):c.6057G>A (p.Val2019=)
|
|
|
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala)
|
|
|
NM_021098.3(CACNA1H):c.6063C>T (p.Thr2021=)
|
rs780400494
|
|
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala)
|
|
|
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6069C>T (p.Ser2023=)
|
|
|
NM_021098.3(CACNA1H):c.6084T>A (p.Ile2028=)
|
rs1596479765
|
|
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly)
|
rs748236037
|
|
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)
|
|
|
NM_021098.3(CACNA1H):c.6090C>T (p.Ser2030=)
|
|
|
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val)
|
rs746778552
|
|
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala)
|
|
|
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly)
|
|
|
NM_021098.3(CACNA1H):c.610C>T (p.Leu204=)
|
rs2141202599
|
|
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
|
rs1555520783
|
|
NM_021098.3(CACNA1H):c.6117G>T (p.Glu2039Asp)
|
|
|
NM_021098.3(CACNA1H):c.6120T>C (p.Pro2040=)
|
rs1596479859
|
|
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)
|
rs1567558436
|
|
NM_021098.3(CACNA1H):c.613C>T (p.Arg205Trp)
|
|
|
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg)
|
|
|
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu)
|
rs2141406634
|
|
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met)
|
rs756418923
|
|
NM_021098.3(CACNA1H):c.6159C>A (p.Gly2053=)
|
rs755452106
|
|
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)
|
|
|
NM_021098.3(CACNA1H):c.6174A>C (p.Pro2058=)
|
rs748190834
|
|
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg)
|
rs1005279922
|
|
NM_021098.3(CACNA1H):c.6180C>T (p.Arg2060=)
|
|
|
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu)
|
rs2141407028
|
|
NM_021098.3(CACNA1H):c.6187C>G (p.Arg2063Gly)
|
|
|
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp)
|
rs373707854
|
|
NM_021098.3(CACNA1H):c.618C>G (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.618C>T (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)
|
|
|
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala)
|
rs1970366026
|
|
NM_021098.3(CACNA1H):c.6202C>T (p.Arg2068Cys)
|
rs759853744
|
|
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His)
|
rs765706404
|
|
NM_021098.3(CACNA1H):c.6207T>C (p.Thr2069=)
|
rs1970366738
|
|
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly)
|
rs758461760
|
|
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp)
|
|
|
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=)
|
rs771719773
|
|
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro)
|
rs1555520840
|
|
NM_021098.3(CACNA1H):c.6255C>T (p.Ala2085=)
|
rs751609693
|
|
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp)
|
|
|
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)
|
|
|
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6282G>C (p.Ser2094=)
|
|
|
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp)
|
|
|
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val)
|
|
|
NM_021098.3(CACNA1H):c.6292G>A (p.Asp2098Asn)
|
|
|
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del)
|
rs1567559045
|
|
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp)
|
|
|
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)
|
|
|
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile)
|
rs1970373796
|
|
NM_021098.3(CACNA1H):c.6312C>T (p.Ile2104=)
|
rs1224881281
|
|
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp)
|
rs183014006
|
|
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.634C>T (p.Arg212Cys)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6357C>T (p.Gly2119=)
|
rs754165259
|
|
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu)
|
rs772154386
|
|
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val)
|
rs769490814
|
|
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp)
|
rs1970381464
|
|
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
|
|
|
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)
|
rs752385455
|
|
NM_021098.3(CACNA1H):c.6405C>G (p.Leu2135=)
|
|
|
NM_021098.3(CACNA1H):c.6408C>T (p.Tyr2136=)
|
|
|
NM_021098.3(CACNA1H):c.6417_6418inv (p.Ala2140Thr)
|
|
|
NM_021098.3(CACNA1H):c.6420T>C (p.Ala2140=)
|
|
|
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=)
|
|
|
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+3A>G
|
|
|
NM_021098.3(CACNA1H):c.643+8A>G
|
|
|
NM_021098.3(CACNA1H):c.643+9C>T
|
|
|
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro)
|
rs1970385250
|
|
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr)
|
rs1319777512
|
|
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs)
|
|
|
NM_021098.3(CACNA1H):c.644-14C>T
|
|
|
NM_021098.3(CACNA1H):c.644-19C>T
|
|
|
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln)
|
|
|
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly)
|
|
|
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp)
|
rs752621913
|
|
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys)
|
rs761679939
|
|
NM_021098.3(CACNA1H):c.6456G>A (p.Glu2152=)
|
rs1970387497
|
|
NM_021098.3(CACNA1H):c.6459G>A (p.Gln2153=)
|
|
|
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=)
|
rs1171444249
|
|
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp)
|
|
|
NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=)
|
|
|
NM_021098.3(CACNA1H):c.6471G>A (p.Ser2157=)
|
|
|
NM_021098.3(CACNA1H):c.6473C>T (p.Ala2158Val)
|
|
|
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
|
|
|
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.650G>A (p.Arg217Gln)
|
|
|
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.6526G>C (p.Glu2176Gln)
|
rs768826048
|
|
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp)
|
|
|
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
|
|
|
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del)
|
rs766893201
|
|
NM_021098.3(CACNA1H):c.6554A>G (p.Lys2185Arg)
|
|
|
NM_021098.3(CACNA1H):c.6565C>G (p.Pro2189Ala)
|
|
|
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser)
|
rs538538654
|
|
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)
|
|
|
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu)
|
|
|
NM_021098.3(CACNA1H):c.6570C>A (p.Pro2190=)
|
rs1046847004
|
|
NM_021098.3(CACNA1H):c.657G>A (p.Leu219=)
|
rs376669194
|
|
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del)
|
rs763914077
|
|
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys)
|
rs1555521047
|
|
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg)
|
rs1265575905
|
|
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys)
|
rs2141410625
|
|
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)
|
|
|
NM_021098.3(CACNA1H):c.6606C>A (p.Gly2202=)
|
rs1233255850
|
|
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln)
|
|
|
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.662C>T (p.Thr221Ile)
|
rs1368252007
|
|
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs)
|
|
|
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp)
|
|
|
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)
|
|
|
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser)
|
|
|
NM_021098.3(CACNA1H):c.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.6661C>G (p.Pro2221Ala)
|
rs1596481482
|
|
NM_021098.3(CACNA1H):c.6662C>G (p.Pro2221Arg)
|
|
|
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup)
|
rs2141411243
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
NM_021098.3(CACNA1H):c.6693C>T (p.Ser2231=)
|
rs756073800
|
|
NM_021098.3(CACNA1H):c.6700C>T (p.Pro2234Ser)
|
|
|
NM_021098.3(CACNA1H):c.6703A>G (p.Thr2235Ala)
|
|
|
NM_021098.3(CACNA1H):c.6714A>C (p.Ser2238=)
|
rs1970410954
|
|
NM_021098.3(CACNA1H):c.6714A>G (p.Ser2238=)
|
|
|
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del)
|
|
|
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=)
|
rs375725132
|
|
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg)
|
rs200606995
|
|
NM_021098.3(CACNA1H):c.6723G>C (p.Gly2241=)
|
|
|
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg)
|
rs776025785
|
|
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=)
|
rs58682447
|
|
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
|
|
|
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn)
|
rs764148791
|
|
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs)
|
rs753624103
|
|
NM_021098.3(CACNA1H):c.6729C>T (p.Asp2243=)
|
rs534649086
|
|
NM_021098.3(CACNA1H):c.6739A>G (p.Lys2247Glu)
|
rs1386122386
|
|
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser)
|
rs375586314
|
|
NM_021098.3(CACNA1H):c.6749G>T (p.Arg2250Leu)
|
|
|
NM_021098.3(CACNA1H):c.6760G>T (p.Ala2254Ser)
|
|
|
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg)
|
rs2141412071
|
|
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly)
|
|
|
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro)
|
|
|
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_021098.3(CACNA1H):c.677C>T (p.Thr226Met)
|
rs770952533
|
|
NM_021098.3(CACNA1H):c.6780C>G (p.His2260Gln)
|
|
|
NM_021098.3(CACNA1H):c.6792C>T (p.Pro2264=)
|
rs1292750287
|
|
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn)
|
|
|
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=)
|
rs2141412462
|
|
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His)
|
rs943817403
|
|
NM_021098.3(CACNA1H):c.6820G>A (p.Gly2274Arg)
|
rs1267207816
|
|
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val)
|
|
|
NM_021098.3(CACNA1H):c.6822G>A (p.Gly2274=)
|
|
|
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)
|
|
|
NM_021098.3(CACNA1H):c.6826C>T (p.Pro2276Ser)
|
rs1398479650
|
|
NM_021098.3(CACNA1H):c.6831T>C (p.Ser2277=)
|
rs772341545
|
|
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala)
|
rs760918600
|
|
NM_021098.3(CACNA1H):c.6848A>G (p.Asp2283Gly)
|
rs58597457
|
|
NM_021098.3(CACNA1H):c.6850G>A (p.Gly2284Ser)
|
|
|
NM_021098.3(CACNA1H):c.6855C>A (p.Ser2285Arg)
|
rs757900694
|
|
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=)
|
rs1468998569
|
|
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
|
|
|
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met)
|
|
|
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu)
|
rs1970426412
|
|
NM_021098.3(CACNA1H):c.6876C>T (p.Ser2292=)
|
|
|
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val)
|
rs540026021
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
|
|
|
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu)
|
|
|
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
|
|
|
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr)
|
rs774338957
|
|
NM_021098.3(CACNA1H):c.6900A>T (p.Ile2300=)
|
rs762822116
|
|
NM_021098.3(CACNA1H):c.6904C>T (p.Pro2302Ser)
|
|
|
NM_021098.3(CACNA1H):c.690C>G (p.Leu230=)
|
|
|
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly)
|
rs1970429885
|
|
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp)
|
|
|
NM_021098.3(CACNA1H):c.6913C>A (p.Pro2305Thr)
|
|
|
NM_021098.3(CACNA1H):c.6916C>G (p.Pro2306Ala)
|
rs761917566
|
|
NM_021098.3(CACNA1H):c.6924A>G (p.Ser2308=)
|
|
|
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu)
|
rs2141413399
|
|
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val)
|
|
|
NM_021098.3(CACNA1H):c.6950C>A (p.Pro2317His)
|
rs1442700966
|
|
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs)
|
rs750261505
|
|
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs)
|
|
|
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg)
|
rs2141413668
|
|
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg)
|
rs1596482455
|
|
NM_021098.3(CACNA1H):c.6975C>T (p.Tyr2325=)
|
|
|
NM_021098.3(CACNA1H):c.6986C>T (p.Pro2329Leu)
|
|
|
NM_021098.3(CACNA1H):c.6994C>T (p.Pro2332Ser)
|
|
|
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp)
|
|
|
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)
|
rs757713867
|
|
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser)
|
|
|
NM_021098.3(CACNA1H):c.7023C>G (p.Ala2341=)
|
|
|
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile)
|
rs1970440739
|
|
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=)
|
rs745960698
|
|
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu)
|
rs1194032246
|
|
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)
|
rs765057432
|
|
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val)
|
|
|
NM_021098.3(CACNA1H):c.7039G>A (p.Gly2347Ser)
|
|
|
NM_021098.3(CACNA1H):c.703C>T (p.Leu235=)
|
rs1967297712
|
|
NM_021098.3(CACNA1H):c.7041T>C (p.Gly2347=)
|
|
|
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?))
|
|
|
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.7057G>T (p.Val2353Leu)
|
rs150601404
|
|
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.718G>C (p.Val240Leu)
|
rs369630836
|
|
NM_021098.3(CACNA1H):c.720C>T (p.Val240=)
|
|
|
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del)
|
rs748582978
|
|
NM_021098.3(CACNA1H):c.723C>G (p.Phe241Leu)
|
rs770535441
|
|
NM_021098.3(CACNA1H):c.723C>T (p.Phe241=)
|
|
|
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val)
|
rs2151603406
|
|
NM_021098.3(CACNA1H):c.744C>T (p.Gly248=)
|
|
|
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro)
|
|
|
NM_021098.3(CACNA1H):c.753C>G (p.Leu251=)
|
rs2141221266
|
|
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
|
|
|
NM_021098.3(CACNA1H):c.75G>A (p.Leu25=)
|
|
|
NM_021098.3(CACNA1H):c.762C>T (p.Gly254=)
|
|
|
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.790A>G (p.Ser264Gly)
|
rs745571869
|
|
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.836A>G (p.Tyr279Cys)
|
rs1364510020
|
|
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg)
|
|
|
NM_021098.3(CACNA1H):c.849G>A (p.Glu283=)
|
rs1056868756
|
|
NM_021098.3(CACNA1H):c.850G>A (p.Gly284Ser)
|
|
|
NM_021098.3(CACNA1H):c.852C>T (p.Gly284=)
|
|
|
NM_021098.3(CACNA1H):c.856G>A (p.Glu286Lys)
|
|
|
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.875C>T (p.Ser292Phe)
|
|
|
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro)
|
rs2141242222
|
|
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu)
|
rs749305814
|
|
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser)
|
|
|
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=)
|
rs2141242375
|
|
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu)
|
rs1219214145
|
|
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg)
|
rs1195218337
|
|
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp)
|
rs867008505
|
|
NM_021098.3(CACNA1H):c.90G>A (p.Pro30=)
|
|
|
NM_021098.3(CACNA1H):c.913A>G (p.Ile305Val)
|
|
|
NM_021098.3(CACNA1H):c.915C>A (p.Ile305=)
|
|
|
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys)
|
|
|
NM_021098.3(CACNA1H):c.927C>A (p.Arg309=)
|
|
|
NM_021098.3(CACNA1H):c.936C>A (p.Arg312=)
|
rs780299000
|
|
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)
|
|
|
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.956G>C (p.Trp319Ser)
|
|
|
NM_021098.3(CACNA1H):c.963C>T (p.Ala321=)
|
|
|
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe)
|
|
|
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.982G>A (p.Glu328Lys)
|
|
|
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)
|
|
|
NM_021098.3(CACNA1H):c.987G>A (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.987G>T (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met)
|
rs752653043
|
|
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala)
|
|
|
NM_021098.3(CACNA1H):c.993C>T (p.Gly331=)
|
rs770821118
|
|
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)
|
rs529471626
|
|
NM_021098.3(CACNA1H):c.99C>T (p.Pro33=)
|
|
|
NM_130799.2(MEN1):c.914del
|
rs1941733228
|
|
Single allele
|
|
|