ClinVar Miner

List of variants studied for adrenal gland disorder by Invitae

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13988
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HGVS dbSNP gnomAD frequency
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
NC_000011.10:g.(?_64804334)_(64810716_?)dup
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

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