ClinVar Miner

List of variants in gene F5 studied for blood coagulation disease

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 912
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000130.5(F5):c.6193+831G>A rs3766103 0.49544
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30714
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.*1820A>C rs72708013 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000130.5(F5):c.2105C>T (p.Thr702Ile) rs78958618 0.01131
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000130.5(F5):c.*891A>G rs9332674 0.00298
NM_000130.5(F5):c.3751T>C (p.Leu1251=) rs1403856375 0.00287
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000130.5(F5):c.4563T>C (p.Asp1521=) rs113997556 0.00257
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000130.5(F5):c.*581C>A rs180742904 0.00227
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000130.5(F5):c.*216T>A rs186962725 0.00188
NM_000130.5(F5):c.*396C>A rs181328696 0.00188
NM_000130.5(F5):c.*363T>G rs115882472 0.00187
NM_000130.5(F5):c.1612-9G>T rs6038 0.00182
NM_000130.5(F5):c.2142A>G (p.Glu714=) rs59779968 0.00164
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000130.5(F5):c.106G>A (p.Val36Met) rs147487854 0.00150
NM_000130.5(F5):c.1539A>G (p.Arg513=) rs140627208 0.00148
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.2939G>T (p.Arg980Leu) rs9332605 0.00143
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000130.5(F5):c.-40T>C rs41272465 0.00121
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.*441C>T rs188490117 0.00105
NM_000130.5(F5):c.*598T>G rs544753372 0.00081
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00066
NM_000130.5(F5):c.*1912C>T rs865812546 0.00063
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000130.5(F5):c.1086C>T (p.Asp362=) rs147952496 0.00058
NM_000130.5(F5):c.2752C>T (p.Pro918Ser) rs149389480 0.00054
NM_000130.5(F5):c.-84G>A rs543172813 0.00053
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_000130.5(F5):c.2339C>T (p.Pro780Leu) rs200146772 0.00034
NM_000130.5(F5):c.1181T>C (p.Val394Ala) rs142875000 0.00030
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000130.5(F5):c.2806C>G (p.Gln936Glu) rs138086769 0.00027
NM_000130.5(F5):c.566C>T (p.Pro189Leu) rs141800405 0.00027
NM_000130.5(F5):c.2835G>A (p.Gly945=) rs370927080 0.00026
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) rs115148599 0.00026
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000130.5(F5):c.*1780G>T rs559071301 0.00020
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000130.5(F5):c.6402G>A (p.Thr2134=) rs144486119 0.00017
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu) rs113768654 0.00016
NM_000130.5(F5):c.4641T>C (p.Asp1547=) rs138504020 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000130.5(F5):c.6401C>T (p.Thr2134Met) rs199601865 0.00016
NM_000130.5(F5):c.5723G>A (p.Arg1908Lys) rs191148130 0.00015
NM_000130.5(F5):c.6600T>C (p.Phe2200=) rs142201768 0.00015
NM_000130.5(F5):c.*1237G>A rs979200861 0.00014
NM_000130.5(F5):c.*2053G>C rs886045534 0.00014
NM_000130.5(F5):c.3039G>A (p.Gln1013=) rs769936831 0.00014
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser) rs200269019 0.00014
NM_000130.5(F5):c.3243C>T (p.Asp1081=) rs140281633 0.00014
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000130.5(F5):c.437G>A (p.Arg146Gln) rs145625079 0.00014
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser) rs149048805 0.00013
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys) rs775712769 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000130.5(F5):c.*1776A>G rs567224548 0.00012
NM_000130.5(F5):c.4056C>T (p.Leu1352=) rs549332286 0.00011
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000130.5(F5):c.1374A>G (p.Glu458=) rs150708584 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00010
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln) rs758795781 0.00010
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000130.5(F5):c.*1432C>T rs886045536 0.00009
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln) rs369516642 0.00009
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser) rs116407347 0.00008
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000130.5(F5):c.*1170G>A rs191866237 0.00006
NM_000130.5(F5):c.*149C>G rs534748300 0.00006
NM_000130.5(F5):c.*1715T>G rs763562497 0.00006
NM_000130.5(F5):c.*288T>C rs116921763 0.00006
NM_000130.5(F5):c.*75G>A rs1001647624 0.00006
NM_000130.5(F5):c.*762G>A rs753366128 0.00006
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00006
NM_000130.5(F5):c.5534A>G (p.His1845Arg) rs200865371 0.00006
NM_000130.5(F5):c.*1404G>A rs950549168 0.00005
NM_000130.5(F5):c.*1433G>A rs1324064139 0.00005
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.5262A>T (p.Gly1754=) rs759827034 0.00005
NM_000130.5(F5):c.6589A>G (p.Ile2197Val) rs372005449 0.00005
NM_000130.5(F5):c.*1857G>A rs145683103 0.00004
NM_000130.5(F5):c.1624A>G (p.Ile542Val) rs776949074 0.00004
NM_000130.5(F5):c.2032A>G (p.Lys678Glu) rs201292247 0.00004
NM_000130.5(F5):c.2383C>G (p.Gln795Glu) rs374379051 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.3446C>T (p.Ser1149Phe) rs559098136 0.00004
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu) rs201142225 0.00004
NM_000130.5(F5):c.*1132A>G rs185213313 0.00003
NM_000130.5(F5):c.*1257A>C rs527497923 0.00003
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.2434C>T (p.His812Tyr) rs1310289906 0.00003
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs) rs773569662 0.00003
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.886G>A (p.Ala296Thr) rs748350385 0.00003
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000130.5(F5):c.281T>C (p.Val94Ala) rs751093518 0.00002
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000130.5(F5):c.3702C>T (p.Asp1234=) rs368295218 0.00002
NM_000130.5(F5):c.4632G>T (p.Val1544=) rs780992775 0.00002
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu) rs200805004 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.*1043T>A rs991084730 0.00001
NM_000130.5(F5):c.*1613A>G rs939304311 0.00001
NM_000130.5(F5):c.*390C>T rs886045538 0.00001
NM_000130.5(F5):c.*872C>T rs922113998 0.00001
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.1569T>A (p.Leu523=) rs1398320157 0.00001
NM_000130.5(F5):c.1600C>T (p.Arg534Ter) rs770011773 0.00001
NM_000130.5(F5):c.1659G>A (p.Glu553=) rs370739570 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000130.5(F5):c.1973T>C (p.Val658Ala) rs760114041 0.00001
NM_000130.5(F5):c.2321G>C (p.Gly774Ala) rs547915978 0.00001
NM_000130.5(F5):c.276T>G (p.Ala92=) rs769639191 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter) rs118203909 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.3939C>T (p.Ser1313=) rs1445744008 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000130.5(F5):c.4158A>C (p.Pro1386=) rs772368983 0.00001
NM_000130.5(F5):c.417C>T (p.Asp139=) rs749722664 0.00001
NM_000130.5(F5):c.5000C>T (p.Pro1667Leu) rs200157005 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln) rs886045544 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.538G>A (p.Glu180Lys) rs143152035 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile) rs768425862 0.00001
NM_000130.5(F5):c.5976G>A (p.Glu1992=) rs915397925 0.00001
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln) rs886045542 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys) rs775843029 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000130.5(F5):c.6459T>C (p.Tyr2153=) rs773618429 0.00001
NM_000130.5(F5):c.6606T>A (p.Arg2202=) rs368496361 0.00001
NM_000130.5(F5):c.6644G>A (p.Arg2215His) rs952196842 0.00001
NM_000130.5(F5):c.910G>A (p.Gly304Arg) rs747353298 0.00001
NM_000130.5(F5):c.936C>T (p.Thr312=) rs758832130 0.00001
NC_000001.10:g.(?_169492415)_(169555624_?)dup
NC_000001.10:g.(?_169497133)_(169497352_?)del
NM_000130.4(F5):c.-110C>A rs886045552
NM_000130.5(F5):c.*104A>C rs886045540
NM_000130.5(F5):c.*1301A>T rs1557902119
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*1531C>T rs1659060074
NM_000130.5(F5):c.*157A>T rs886045539
NM_000130.5(F5):c.*1699G>T rs537882111
NM_000130.5(F5):c.*1939T>C rs886045535
NM_000130.5(F5):c.*2148C>T rs369159875
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.*2351C>A rs542773186
NM_000130.5(F5):c.*366A>G rs1659095114
NM_000130.5(F5):c.*400C>G rs886045537
NM_000130.5(F5):c.1002G>A (p.Arg334=)
NM_000130.5(F5):c.1014A>G (p.Lys338=)
NM_000130.5(F5):c.1029G>A (p.Gln343=)
NM_000130.5(F5):c.1042_1049del (p.Lys348fs) rs2101829195
NM_000130.5(F5):c.1059C>T (p.Phe353=)
NM_000130.5(F5):c.1059del (p.Phe353fs)
NM_000130.5(F5):c.1089T>C (p.Tyr363=)
NM_000130.5(F5):c.108G>A (p.Val36=)
NM_000130.5(F5):c.1107G>A (p.Ala369=)
NM_000130.5(F5):c.1118+12G>C
NM_000130.5(F5):c.1118+13G>A
NM_000130.5(F5):c.1118+14del
NM_000130.5(F5):c.1118+18A>G
NM_000130.5(F5):c.1118+8G>T
NM_000130.5(F5):c.1119-11T>C
NM_000130.5(F5):c.1119-12C>T
NM_000130.5(F5):c.1119-14del
NM_000130.5(F5):c.1119-14dup
NM_000130.5(F5):c.1119-9C>A
NM_000130.5(F5):c.1119-9C>T
NM_000130.5(F5):c.1119-9_1119-8insT
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.112G>A (p.Ala38Thr)
NM_000130.5(F5):c.112G>T (p.Ala38Ser)
NM_000130.5(F5):c.1137T>C (p.His379=)
NM_000130.5(F5):c.1154A>G (p.Asn385Ser)
NM_000130.5(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
NM_000130.5(F5):c.1197C>T (p.Tyr399=)
NM_000130.5(F5):c.120C>A (p.Gly40=)
NM_000130.5(F5):c.1224A>G (p.Thr408=)
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
NM_000130.5(F5):c.1282A>G (p.Arg428Gly)
NM_000130.5(F5):c.1284A>T (p.Arg428Ser)
NM_000130.5(F5):c.1296+10A>C
NM_000130.5(F5):c.1296+12A>C
NM_000130.5(F5):c.1296+13A>G
NM_000130.5(F5):c.1297-15G>A
NM_000130.5(F5):c.1297-1G>C
NM_000130.5(F5):c.1297-20A>C
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1297-4G>T
NM_000130.5(F5):c.1302G>A (p.Val434=)
NM_000130.5(F5):c.1305C>T (p.Phe435=)
NM_000130.5(F5):c.1313T>C (p.Met438Thr)
NM_000130.5(F5):c.1317C>G (p.Ala439=)
NM_000130.5(F5):c.1321C>G (p.Arg441Gly) rs747006175
NM_000130.5(F5):c.1336T>C (p.Tyr446His)
NM_000130.5(F5):c.1340C>G (p.Pro447Arg) rs368387623
NM_000130.5(F5):c.1345G>T (p.Gly449Ter)
NM_000130.5(F5):c.1356_1363del (p.Phe452fs)
NM_000130.5(F5):c.1359G>A (p.Ser453=)
NM_000130.5(F5):c.1365T>C (p.Tyr455=)
NM_000130.5(F5):c.136C>A (p.Arg46=)
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
NM_000130.5(F5):c.1370A>T (p.Asp457Val)
NM_000130.5(F5):c.1396+18C>G
NM_000130.5(F5):c.1396+18del
NM_000130.5(F5):c.1396+2T>C
NM_000130.5(F5):c.1397-20T>C
NM_000130.5(F5):c.1410C>T (p.Thr470=)
NM_000130.5(F5):c.1412T>C (p.Met471Thr)
NM_000130.5(F5):c.141T>C (p.Pro47=)
NM_000130.5(F5):c.1449T>C (p.Tyr483=)
NM_000130.5(F5):c.1452G>C (p.Lys484Asn)
NM_000130.5(F5):c.1464A>G (p.Leu488=)
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.149C>T (p.Thr50Ile)
NM_000130.5(F5):c.1512A>G (p.Pro504=)
NM_000130.5(F5):c.1521T>A (p.Ser507Arg)
NM_000130.5(F5):c.1521T>C (p.Ser507=)
NM_000130.5(F5):c.1524C>T (p.Asp508=)
NM_000130.5(F5):c.1538_1539delinsAG (p.Arg513Lys)
NM_000130.5(F5):c.1546G>T (p.Ala516Ser) rs916286148
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
NM_000130.5(F5):c.1563A>G (p.Gly521=)
NM_000130.5(F5):c.156A>G (p.Ser52=)
NM_000130.5(F5):c.1575C>T (p.Ile525=)
NM_000130.5(F5):c.158+16A>C
NM_000130.5(F5):c.158+19C>T
NM_000130.5(F5):c.158+8A>C rs1571608314
NM_000130.5(F5):c.159-15G>A
NM_000130.5(F5):c.159-8A>T
NM_000130.5(F5):c.1592T>C (p.Leu531Pro)
NM_000130.5(F5):c.1609C>T (p.Gln537Ter)
NM_000130.5(F5):c.1611+10C>T
NM_000130.5(F5):c.1611+13T>A
NM_000130.5(F5):c.1611+15A>G
NM_000130.5(F5):c.1611+17G>A
NM_000130.5(F5):c.1612-10T>C
NM_000130.5(F5):c.1612-10dup
NM_000130.5(F5):c.1612-15T>C
NM_000130.5(F5):c.1612-16C>A
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
NM_000130.5(F5):c.1626C>T (p.Ile542=)
NM_000130.5(F5):c.163A>G (p.Asn55Asp)
NM_000130.5(F5):c.1649T>C (p.Val550Ala)
NM_000130.5(F5):c.1662C>T (p.Asn554=)
NM_000130.5(F5):c.1665A>G (p.Lys555=)
NM_000130.5(F5):c.1667G>A (p.Ser556Asn)
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000130.5(F5):c.1686C>T (p.Asn562=)
NM_000130.5(F5):c.1695G>A (p.Lys565=)
NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)
NM_000130.5(F5):c.171T>C (p.Ser57=)
NM_000130.5(F5):c.1737G>A (p.Lys579=)
NM_000130.5(F5):c.1761C>A (p.Ser587Arg)
NM_000130.5(F5):c.1763-10A>G
NM_000130.5(F5):c.1763-15A>T
NM_000130.5(F5):c.1763-16G>C
NM_000130.5(F5):c.1763-9C>T
NM_000130.5(F5):c.1770T>C (p.Asn590=)
NM_000130.5(F5):c.1772G>C (p.Gly591Ala)
NM_000130.5(F5):c.1773C>T (p.Gly591=)
NM_000130.5(F5):c.1776T>C (p.Tyr592=)
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
NM_000130.5(F5):c.1788C>T (p.Ser596=)
NM_000130.5(F5):c.1797T>C (p.Thr599=)
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.1833C>T (p.His611=)
NM_000130.5(F5):c.1842T>C (p.Ser614=)
NM_000130.5(F5):c.1854G>A (p.Gln618=)
NM_000130.5(F5):c.1869C>T (p.Thr623=)
NM_000130.5(F5):c.1911T>C (p.His637=)
NM_000130.5(F5):c.1920C>T (p.Thr640=)
NM_000130.5(F5):c.1944A>G (p.Gly648=)
NM_000130.5(F5):c.1956G>A (p.Thr652=)
NM_000130.5(F5):c.1956G>C (p.Thr652=)
NM_000130.5(F5):c.1971T>C (p.Asn657=)
NM_000130.5(F5):c.1975+10A>G
NM_000130.5(F5):c.1975+14T>C
NM_000130.5(F5):c.1975+19A>G
NM_000130.5(F5):c.1975+20C>T
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.1976-15G>A
NM_000130.5(F5):c.2009C>G (p.Pro670Arg)
NM_000130.5(F5):c.2016C>A (p.Ser672Arg)
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2025G>A (p.Leu675=)
NM_000130.5(F5):c.2029C>T (p.Leu677=)
NM_000130.5(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.5(F5):c.2067T>C (p.Asp689=)
NM_000130.5(F5):c.2076A>G (p.Ser692=)
NM_000130.5(F5):c.2079T>C (p.Tyr693=)
NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)
NM_000130.5(F5):c.2119C>A (p.Arg707=)
NM_000130.5(F5):c.2136T>A (p.Arg712=)
NM_000130.5(F5):c.2136T>C (p.Arg712=)
NM_000130.5(F5):c.2157G>A (p.Glu719=)
NM_000130.5(F5):c.21C>T (p.Arg7=)
NM_000130.5(F5):c.2200T>C (p.Leu734=)
NM_000130.5(F5):c.2218C>A (p.Arg740=)
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2226A>G (p.Ser742=)
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
NM_000130.5(F5):c.2232G>C (p.Leu744Phe) rs2101820303
NM_000130.5(F5):c.2234A>G (p.Asn745Ser) rs2101820299
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.2247A>C (p.Glu749Asp)
NM_000130.5(F5):c.2248_2250del (p.Glu750del)
NM_000130.5(F5):c.2286T>C (p.Thr762=)
NM_000130.5(F5):c.2292C>T (p.Phe764=)
NM_000130.5(F5):c.22C>T (p.Leu8Phe)
NM_000130.5(F5):c.2313A>T (p.Ile771=)
NM_000130.5(F5):c.2364C>G (p.Val788=)
NM_000130.5(F5):c.2364C>T (p.Val788=)
NM_000130.5(F5):c.2380C>A (p.Pro794Thr)
NM_000130.5(F5):c.2391C>T (p.Ala797=)
NM_000130.5(F5):c.2397T>A (p.Ser799=)
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.240T>C (p.Ser80=)
NM_000130.5(F5):c.2427A>G (p.Pro809=)
NM_000130.5(F5):c.243C>A (p.Thr81=)
NM_000130.5(F5):c.244A>G (p.Ile82Val)
NM_000130.5(F5):c.2465C>T (p.Ser822Phe)
NM_000130.5(F5):c.2490A>G (p.Pro830=)
NM_000130.5(F5):c.250+10A>C
NM_000130.5(F5):c.250+13T>G
NM_000130.5(F5):c.250+18T>C
NM_000130.5(F5):c.251-17A>C
NM_000130.5(F5):c.251-6del
NM_000130.5(F5):c.2511G>A (p.Glu837=)
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000130.5(F5):c.2521del (p.Gln841fs)
NM_000130.5(F5):c.2532C>T (p.Val844=)
NM_000130.5(F5):c.2538G>A (p.Gly846=)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000130.5(F5):c.2631G>A (p.Lys877=)
NM_000130.5(F5):c.264T>C (p.Pro88=)
NM_000130.5(F5):c.2658A>G (p.Leu886=)
NM_000130.5(F5):c.2691C>T (p.Asp897=)
NM_000130.5(F5):c.2706C>T (p.Ser902=)
NM_000130.5(F5):c.2715G>A (p.Arg905=)
NM_000130.5(F5):c.2722G>T (p.Glu908Ter)
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
NM_000130.5(F5):c.2745T>C (p.Thr915=)
NM_000130.5(F5):c.2754T>A (p.Pro918=)
NM_000130.5(F5):c.2780del (p.Pro927fs)
NM_000130.5(F5):c.2793G>A (p.Leu931=)
NM_000130.5(F5):c.2799C>T (p.Leu933=)
NM_000130.5(F5):c.2813A>C (p.Asn938Thr)
NM_000130.5(F5):c.2814C>T (p.Asn938=)
NM_000130.5(F5):c.282C>T (p.Val94=)
NM_000130.5(F5):c.2837G>T (p.Arg946Ile) rs2101819634
NM_000130.5(F5):c.2838A>G (p.Arg946=)
NM_000130.5(F5):c.2846del (p.Leu949fs)
NM_000130.5(F5):c.2859A>G (p.Lys953=)
NM_000130.5(F5):c.286G>C (p.Asp96His)
NM_000130.5(F5):c.2883T>C (p.Asp961=)
NM_000130.5(F5):c.288C>T (p.Asp96=)
NM_000130.5(F5):c.2898A>G (p.Thr966=)
NM_000130.5(F5):c.2925C>G (p.Pro975=)
NM_000130.5(F5):c.2943T>C (p.Ala981=)
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
NM_000130.5(F5):c.2957C>T (p.Thr986Ile)
NM_000130.5(F5):c.2988T>G (p.Ser996Arg)
NM_000130.5(F5):c.2991C>G (p.Gly997=)
NM_000130.5(F5):c.3000G>A (p.Lys1000=)
NM_000130.5(F5):c.3012del (p.Arg1005fs)
NM_000130.5(F5):c.3027A>G (p.Leu1009=)
NM_000130.5(F5):c.3072G>A (p.Gln1024=)
NM_000130.5(F5):c.3078C>G (p.Leu1026=)
NM_000130.5(F5):c.3081T>C (p.Ile1027=)
NM_000130.5(F5):c.3084G>A (p.Lys1028=)
NM_000130.5(F5):c.3087A>G (p.Thr1029=)
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
NM_000130.5(F5):c.3105G>A (p.Glu1035=)
NM_000130.5(F5):c.3120T>C (p.His1040=) rs1571574660
NM_000130.5(F5):c.3135G>A (p.Pro1045=) rs760055896
NM_000130.5(F5):c.315G>A (p.Lys105=)
NM_000130.5(F5):c.3165C>A (p.Ala1055=)
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.3195G>A (p.Lys1065=)
NM_000130.5(F5):c.3201G>A (p.Ser1067=)
NM_000130.5(F5):c.3252G>A (p.Gln1084=)
NM_000130.5(F5):c.3255A>G (p.Thr1085=)
NM_000130.5(F5):c.3261C>G (p.Pro1087=) rs886045549
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly) rs1659859528
NM_000130.5(F5):c.3288A>G (p.Ser1096=) rs1571574424
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.5(F5):c.3322del (p.Thr1108fs)
NM_000130.5(F5):c.3327T>G (p.Gly1109=)
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.333C>T (p.Ser111=)
NM_000130.5(F5):c.3345A>T (p.Pro1115=)
NM_000130.5(F5):c.3362T>G (p.Val1121Gly)
NM_000130.5(F5):c.3363G>T (p.Val1121=)
NM_000130.5(F5):c.3380A>G (p.Tyr1127Cys)
NM_000130.5(F5):c.3382C>A (p.Gln1128Lys)
NM_000130.5(F5):c.3387A>C (p.Thr1129=)
NM_000130.5(F5):c.33G>T (p.Leu11=)
NM_000130.5(F5):c.3417C>T (p.His1139=)
NM_000130.5(F5):c.3423T>A (p.Thr1141=)
NM_000130.5(F5):c.3429C>T (p.Asp1143=)
NM_000130.5(F5):c.3430C>T (p.Pro1144Ser)
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.5(F5):c.3456G>A (p.Glu1152=)
NM_000130.5(F5):c.3473A>T (p.Glu1158Val)
NM_000130.5(F5):c.3483A>G (p.Arg1161=)
NM_000130.5(F5):c.3495C>G (p.Ser1165=)
NM_000130.5(F5):c.3531A>T (p.Ser1177=)
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
NM_000130.5(F5):c.3552A>G (p.Thr1184=)
NM_000130.5(F5):c.3558C>A (p.Ile1186=)
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer) rs2101818861
NM_000130.5(F5):c.357C>G (p.Tyr119Ter)
NM_000130.5(F5):c.3582C>G (p.Thr1194=)
NM_000130.5(F5):c.3582C>T (p.Thr1194=)
NM_000130.5(F5):c.3585C>G (p.Leu1195=)
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.3611T>G (p.Leu1204Arg)
NM_000130.5(F5):c.3618A>G (p.Pro1206=)
NM_000130.5(F5):c.3621C>T (p.Asp1207=)
NM_000130.5(F5):c.3624C>G (p.Leu1208=)
NM_000130.5(F5):c.3624C>T (p.Leu1208=)
NM_000130.5(F5):c.3633G>A (p.Thr1211=)
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
NM_000130.5(F5):c.3663C>T (p.Asn1221=)
NM_000130.5(F5):c.3674C>A (p.Ala1225Asp) rs2101818750
NM_000130.5(F5):c.3678C>T (p.Leu1226=)
NM_000130.5(F5):c.3690C>T (p.Pro1230=)
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu) rs1338927825
NM_000130.5(F5):c.3697CCAGACCTCAGCCATACAACCCTTTCT[1] (p.1233PDLSHTTLS[1])
NM_000130.5(F5):c.369A>T (p.Ser123=)
NM_000130.5(F5):c.373+16T>C
NM_000130.5(F5):c.373+1G>A
NM_000130.5(F5):c.373+9A>T
NM_000130.5(F5):c.3739A>G (p.Thr1247Ala)
NM_000130.5(F5):c.374-17G>A
NM_000130.5(F5):c.374-19A>T
NM_000130.5(F5):c.374-2del
NM_000130.5(F5):c.374-6C>T
NM_000130.5(F5):c.374G>A (p.Gly125Asp) rs760694648
NM_000130.5(F5):c.3768A>G (p.Thr1256=)
NM_000130.5(F5):c.3771C>T (p.Asn1257=)
NM_000130.5(F5):c.378T>C (p.Ala126=)
NM_000130.5(F5):c.3799del (p.Leu1267fs)
NM_000130.5(F5):c.3813C>G (p.Leu1271=)
NM_000130.5(F5):c.3821T>C (p.Met1274Thr)
NM_000130.5(F5):c.3824C>T (p.Pro1275Leu)
NM_000130.5(F5):c.3825C>G (p.Pro1275=)
NM_000130.5(F5):c.3840C>T (p.Leu1280=)
NM_000130.5(F5):c.3841A>G (p.Ser1281Gly)
NM_000130.5(F5):c.3852C>A (p.Thr1284=)
NM_000130.5(F5):c.3859C>T (p.Leu1287=)
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu) rs781371990
NM_000130.5(F5):c.3900T>C (p.His1300=)
NM_000130.5(F5):c.3909C>G (p.Leu1303=)
NM_000130.5(F5):c.3909C>T (p.Leu1303=)
NM_000130.5(F5):c.3910_3913del (p.Ser1304fs)
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) rs2101818393
NM_000130.5(F5):c.3936T>C (p.Leu1312=)
NM_000130.5(F5):c.3942A>G (p.Pro1314=)
NM_000130.5(F5):c.3951T>C (p.Gly1317=)
NM_000130.5(F5):c.3951T>G (p.Gly1317=)
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu) rs112331368
NM_000130.5(F5):c.396A>T (p.Thr132=)
NM_000130.5(F5):c.3987C>A (p.Thr1329=)
NM_000130.5(F5):c.3987C>T (p.Thr1329=)
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro) rs1241060030
NM_000130.5(F5):c.399C>T (p.Phe133=)
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu) rs147741798
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr) rs1418336095
NM_000130.5(F5):c.4013A>T (p.Asn1338Ile)
NM_000130.5(F5):c.4014C>T (p.Asn1338=)
NM_000130.5(F5):c.4020T>C (p.Ser1340=)
NM_000130.5(F5):c.4023A>T (p.Pro1341=)
NM_000130.5(F5):c.402T>C (p.Pro134=)
NM_000130.5(F5):c.404C>T (p.Ala135Val)
NM_000130.5(F5):c.404_405delinsTA (p.Ala135Val)
NM_000130.5(F5):c.4068C>T (p.Pro1356=)
NM_000130.5(F5):c.4072T>C (p.Ser1358Pro)
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu) rs200676405
NM_000130.5(F5):c.4083C>A (p.Pro1361=)
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
NM_000130.5(F5):c.4085G>C (p.Ser1362Thr)
NM_000130.5(F5):c.4089T>C (p.His1363=)
NM_000130.5(F5):c.4096del (p.Leu1366fs) rs1659825695
NM_000130.5(F5):c.4102C>T (p.Leu1368=)
NM_000130.5(F5):c.4113C>T (p.Ser1371=)
NM_000130.5(F5):c.4125C>G (p.Leu1375=)
NM_000130.5(F5):c.413dup (p.Met138fs)
NM_000130.5(F5):c.4143G>A (p.Gln1381=)
NM_000130.5(F5):c.4146A>T (p.Thr1382=)
NM_000130.5(F5):c.4161C>T (p.Asp1387=)
NM_000130.5(F5):c.4162C>G (p.Leu1388Val)
NM_000130.5(F5):c.4172T>C (p.Met1391Thr) rs771458343
NM_000130.5(F5):c.4179C>T (p.Leu1393=)
NM_000130.5(F5):c.4205_4209dup (p.Pro1404fs)
NM_000130.5(F5):c.4206T>C (p.Leu1402=)
NM_000130.5(F5):c.420C>T (p.Asp140=)
NM_000130.5(F5):c.4218C>T (p.Leu1406=)
NM_000130.5(F5):c.4221C>T (p.Asp1407=)
NM_000130.5(F5):c.4242C>T (p.Asp1414=) rs759737015
NM_000130.5(F5):c.425T>C (p.Val142Ala)
NM_000130.5(F5):c.4269C>T (p.Asn1423=)
NM_000130.5(F5):c.4273G>A (p.Gly1425Ser)
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
NM_000130.5(F5):c.4285C>A (p.Leu1429Ile)
NM_000130.5(F5):c.4290C>T (p.Ser1430=)
NM_000130.5(F5):c.4291C>G (p.Pro1431Ala)
NM_000130.5(F5):c.4297C>T (p.Leu1433Phe) rs2101817787
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
NM_000130.5(F5):c.4339C>T (p.Leu1447Phe)
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4371T>C (p.Pro1457=)
NM_000130.5(F5):c.4397C>A (p.Pro1466His)
NM_000130.5(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.5(F5):c.4404A>G (p.Glu1468=)
NM_000130.5(F5):c.4409G>A (p.Ser1470Asn)
NM_000130.5(F5):c.4410T>C (p.Ser1470=)
NM_000130.5(F5):c.4437T>C (p.Asn1479=)
NM_000130.5(F5):c.444C>T (p.Tyr148=)
NM_000130.5(F5):c.4452T>C (p.Tyr1484=)
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
NM_000130.5(F5):c.4476T>C (p.Ser1492=)
NM_000130.5(F5):c.4494C>T (p.Leu1498=)
NM_000130.5(F5):c.4497T>C (p.Asn1499=)
NM_000130.5(F5):c.4509A>G (p.Leu1503=)
NM_000130.5(F5):c.450T>C (p.Tyr150=)
NM_000130.5(F5):c.4520T>A (p.Phe1507Tyr)
NM_000130.5(F5):c.4528C>T (p.Leu1510=)
NM_000130.5(F5):c.4534A>G (p.Ile1512Val)
NM_000130.5(F5):c.4542C>T (p.Gly1514=)
NM_000130.5(F5):c.4554T>C (p.Asp1518=)
NM_000130.5(F5):c.4590G>A (p.Glu1530=)
NM_000130.5(F5):c.4596G>A (p.Gln1532=)
NM_000130.5(F5):c.4599C>T (p.Ser1533=)
NM_000130.5(F5):c.4633C>A (p.Pro1545Thr) rs1571572391
NM_000130.5(F5):c.4638T>C (p.Tyr1546=)
NM_000130.5(F5):c.4656T>C (p.Thr1552=)
NM_000130.5(F5):c.4662T>C (p.Val1554=)
NM_000130.5(F5):c.4671C>T (p.Asn1557=)
NM_000130.5(F5):c.4676A>G (p.Asn1559Ser)
NM_000130.5(F5):c.4695C>T (p.Asp1565=)
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
NM_000130.5(F5):c.470A>G (p.Asp157Gly)
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.4755T>A (p.Ala1585=)
NM_000130.5(F5):c.4778A>T (p.Tyr1593Phe)
NM_000130.5(F5):c.4796+11T>G
NM_000130.5(F5):c.4796+15C>T
NM_000130.5(F5):c.4796+17C>T
NM_000130.5(F5):c.4796+3T>C
NM_000130.5(F5):c.4797-12T>C
NM_000130.5(F5):c.4797-13A>G
NM_000130.5(F5):c.4797-17T>C
NM_000130.5(F5):c.4797-19A>T
NM_000130.5(F5):c.4797-8T>G
NM_000130.5(F5):c.4813G>C (p.Asp1605His)
NM_000130.5(F5):c.4819G>C (p.Asp1607His)
NM_000130.5(F5):c.4836T>C (p.Asp1612=)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4872C>T (p.Leu1624=)
NM_000130.5(F5):c.4876del (p.Ser1626fs)
NM_000130.5(F5):c.4878C>T (p.Ser1626=)
NM_000130.5(F5):c.4891C>T (p.Arg1631Cys)
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
NM_000130.5(F5):c.4905G>A (p.Gly1635=)
NM_000130.5(F5):c.492C>T (p.Asp164=)
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.5(F5):c.4962_4971+3del
NM_000130.5(F5):c.4971+10T>C
NM_000130.5(F5):c.4971+11del
NM_000130.5(F5):c.4971+17C>G
NM_000130.5(F5):c.4972-15C>T
NM_000130.5(F5):c.4972-18G>A
NM_000130.5(F5):c.4989A>G (p.Leu1663=)
NM_000130.5(F5):c.4992A>T (p.Ala1664=)
NM_000130.5(F5):c.5022del (p.Leu1675fs) rs2101811710
NM_000130.5(F5):c.5037dup (p.Ser1680fs) rs754982088
NM_000130.5(F5):c.504C>T (p.Leu168=)
NM_000130.5(F5):c.5053A>T (p.Thr1685Ser)
NM_000130.5(F5):c.5058T>C (p.Tyr1686=)
NM_000130.5(F5):c.5076A>G (p.Glu1692=)
NM_000130.5(F5):c.5086G>T (p.Glu1696Ter)
NM_000130.5(F5):c.5094T>C (p.Asn1698=)
NM_000130.5(F5):c.5100T>C (p.Val1700=)
NM_000130.5(F5):c.510C>T (p.His170=)
NM_000130.5(F5):c.5112C>T (p.Ser1704=)
NM_000130.5(F5):c.5142G>A (p.Glu1714=)
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln) rs1194089741
NM_000130.5(F5):c.5151G>T (p.Gly1717=)
NM_000130.5(F5):c.5208+10T>C
NM_000130.5(F5):c.5208+14T>C
NM_000130.5(F5):c.5208+16G>C
NM_000130.5(F5):c.5209-10G>C
NM_000130.5(F5):c.5209-12_5209-11del rs886045545
NM_000130.5(F5):c.5209-13T>C
NM_000130.5(F5):c.5209-20A>T
NM_000130.5(F5):c.5209-2A>G
NM_000130.5(F5):c.5220T>C (p.Ile1740=)
NM_000130.5(F5):c.522C>T (p.Ser174=) rs777533725
NM_000130.5(F5):c.5244C>T (p.Leu1748=)
NM_000130.5(F5):c.5256A>G (p.Gln1752=)
NM_000130.5(F5):c.5261del (p.Gly1754fs)
NM_000130.5(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.5(F5):c.5316A>C (p.Leu1772=)
NM_000130.5(F5):c.5325C>T (p.Thr1775=)
NM_000130.5(F5):c.537C>T (p.Ile179=)
NM_000130.5(F5):c.5383A>C (p.Thr1795Pro)
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs) rs2101810760
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000130.5(F5):c.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.5419+11_5419+12inv
NM_000130.5(F5):c.5419+19G>C
NM_000130.5(F5):c.5419+7T>C
NM_000130.5(F5):c.541G>T (p.Asp181Tyr)
NM_000130.5(F5):c.5420-14C>G
NM_000130.5(F5):c.5420-63_5554delinsG
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5454G>A (p.Leu1818=)
NM_000130.5(F5):c.5454G>C (p.Leu1818=)
NM_000130.5(F5):c.5502C>T (p.Gly1834=)
NM_000130.5(F5):c.5511A>G (p.Gln1837=)
NM_000130.5(F5):c.5520C>T (p.His1840=)
NM_000130.5(F5):c.552G>A (p.Ser184=)
NM_000130.5(F5):c.5535C>T (p.His1845=)
NM_000130.5(F5):c.5541G>A (p.Gln1847=) rs1571564181
NM_000130.5(F5):c.5544C>T (p.Thr1848=)
NM_000130.5(F5):c.5571C>T (p.His1857=)
NM_000130.5(F5):c.5594T>G (p.Leu1865Arg) rs1659497927
NM_000130.5(F5):c.5599+15A>G
NM_000130.5(F5):c.5599+8T>C
NM_000130.5(F5):c.5600-16_5600-14del
NM_000130.5(F5):c.5600-8del
NM_000130.5(F5):c.5601T>C (p.Gly1867=)
NM_000130.5(F5):c.5606T>G (p.Phe1869Cys)
NM_000130.5(F5):c.5628A>G (p.Ala1876=)
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter) rs1557908012
NM_000130.5(F5):c.5649C>T (p.Leu1883=)
NM_000130.5(F5):c.564G>A (p.Gly188=)
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5650C>T (p.Leu1884=)
NM_000130.5(F5):c.5652A>C (p.Leu1884=)
NM_000130.5(F5):c.5658A>C (p.Thr1886=)
NM_000130.5(F5):c.5665G>A (p.Gly1889Arg)
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)
NM_000130.5(F5):c.5689C>A (p.Gln1897Lys)
NM_000130.5(F5):c.5694G>A (p.Thr1898=)
NM_000130.5(F5):c.5716+10G>A
NM_000130.5(F5):c.5716+16T>C
NM_000130.5(F5):c.5716+20A>G
NM_000130.5(F5):c.5717-13_5717-12del
NM_000130.5(F5):c.5717-14T>C
NM_000130.5(F5):c.5717-14del
NM_000130.5(F5):c.5717-14dup
NM_000130.5(F5):c.5717-20T>C
NM_000130.5(F5):c.5717-4A>C
NM_000130.5(F5):c.5717-4A>G
NM_000130.5(F5):c.5717-6dup
NM_000130.5(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.5(F5):c.5737C>T (p.Leu1913=)
NM_000130.5(F5):c.573T>C (p.Leu191=)
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly) rs1659399281
NM_000130.5(F5):c.5789-1G>A
NM_000130.5(F5):c.5789-1G>T
NM_000130.5(F5):c.5789-7A>C rs1659369778
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)
NM_000130.5(F5):c.5835T>C (p.Tyr1945=)
NM_000130.5(F5):c.586+12C>T
NM_000130.5(F5):c.586+14dup
NM_000130.5(F5):c.586+15A>C
NM_000130.5(F5):c.586+15A>G
NM_000130.5(F5):c.586+15del
NM_000130.5(F5):c.586+5G>A
NM_000130.5(F5):c.587-12T>C
NM_000130.5(F5):c.587-16G>A
NM_000130.5(F5):c.587-16_587-15del
NM_000130.5(F5):c.587-17T>C
NM_000130.5(F5):c.587-19C>T
NM_000130.5(F5):c.587-5C>G
NM_000130.5(F5):c.587-5C>T
NM_000130.5(F5):c.587-8T>C
NM_000130.5(F5):c.5892+11A>C
NM_000130.5(F5):c.5893-10T>C
NM_000130.5(F5):c.5893-17G>A
NM_000130.5(F5):c.5893-4G>A
NM_000130.5(F5):c.5893-5T>G
NM_000130.5(F5):c.5949C>T (p.His1983=)
NM_000130.5(F5):c.597_598del (p.Glu200fs)
NM_000130.5(F5):c.5982T>C (p.Tyr1994=)
NM_000130.5(F5):c.6010T>C (p.Trp2004Arg) rs2101806568
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)
NM_000130.5(F5):c.6048+19A>G
NM_000130.5(F5):c.6048+5G>T
NM_000130.5(F5):c.6048G>A (p.Met2016Ile)
NM_000130.5(F5):c.6049-14C>T
NM_000130.5(F5):c.6066A>G (p.Ser2022=)
NM_000130.5(F5):c.6117A>G (p.Arg2039=)
NM_000130.5(F5):c.6122T>G (p.Ile2041Ser) rs1364834534
NM_000130.5(F5):c.612G>A (p.Gln204=)
NM_000130.5(F5):c.6150C>T (p.Asn2050=)
NM_000130.5(F5):c.6171A>G (p.Glu2057=)
NM_000130.5(F5):c.6182G>A (p.Cys2061Tyr)
NM_000130.5(F5):c.618G>A (p.Thr206=)
NM_000130.5(F5):c.6193+11A>G
NM_000130.5(F5):c.6193+15T>C
NM_000130.5(F5):c.6193+15T>G
NM_000130.5(F5):c.6193+16G>A
NM_000130.5(F5):c.6193+19T>C
NM_000130.5(F5):c.6193+1G>A
NM_000130.5(F5):c.6194-19G>A
NM_000130.5(F5):c.6194-20C>A rs6013
NM_000130.5(F5):c.6194-20C>T
NM_000130.5(F5):c.6222T>C (p.Asn2074=)
NM_000130.5(F5):c.623A>G (p.Asp208Gly)
NM_000130.5(F5):c.624C>T (p.Asp208=)
NM_000130.5(F5):c.6258G>A (p.Ser2086=)
NM_000130.5(F5):c.6285C>T (p.Tyr2095=)
NM_000130.5(F5):c.6294C>T (p.Pro2098=)
NM_000130.5(F5):c.6303C>G (p.Ala2101=)
NM_000130.5(F5):c.6312T>C (p.Asn2104=)
NM_000130.5(F5):c.633C>T (p.Ile211=)
NM_000130.5(F5):c.6345+11C>G
NM_000130.5(F5):c.6345+13C>G
NM_000130.5(F5):c.6345+13C>T
NM_000130.5(F5):c.6345+16T>C
NM_000130.5(F5):c.6345+16T>G
NM_000130.5(F5):c.6345+9T>C
NM_000130.5(F5):c.6346-4A>G
NM_000130.5(F5):c.6346-5C>T
NM_000130.5(F5):c.6346-9T>C
NM_000130.5(F5):c.636G>A (p.Val212=)
NM_000130.5(F5):c.6381A>G (p.Leu2127=)
NM_000130.5(F5):c.6384C>G (p.Leu2128=)
NM_000130.5(F5):c.6396G>A (p.Lys2132=)
NM_000130.5(F5):c.639A>G (p.Leu213=)
NM_000130.5(F5):c.6417G>A (p.Gln2139=)
NM_000130.5(F5):c.6435C>A (p.Ser2145=)
NM_000130.5(F5):c.6435C>T (p.Ser2145=)
NM_000130.5(F5):c.6438T>C (p.Ser2146=)
NM_000130.5(F5):c.6489A>G (p.Glu2163=)
NM_000130.5(F5):c.6504G>A (p.Arg2168=)
NM_000130.5(F5):c.6516C>T (p.Ser2172=)
NM_000130.5(F5):c.6528+17G>T
NM_000130.5(F5):c.6528+9G>A
NM_000130.5(F5):c.6528G>C (p.Lys2176Asn)
NM_000130.5(F5):c.6529-11T>C
NM_000130.5(F5):c.6529-12T>C
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
NM_000130.5(F5):c.6579C>T (p.Asn2193=)
NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)
NM_000130.5(F5):c.6621A>G (p.Thr2207=)
NM_000130.5(F5):c.6622T>C (p.Trp2208Arg)
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.5(F5):c.6645C>T (p.Arg2215=)
NM_000130.5(F5):c.6651A>G (p.Glu2217=)
NM_000130.5(F5):c.6657T>C (p.Phe2219=)
NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)
NM_000130.5(F5):c.6660C>T (p.Gly2220=)
NM_000130.5(F5):c.681A>G (p.Ser227=)
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.702C>T (p.Val234=)
NM_000130.5(F5):c.705T>C (p.Asn235=)
NM_000130.5(F5):c.708A>T (p.Gly236=)
NM_000130.5(F5):c.711T>C (p.Tyr237=)
NM_000130.5(F5):c.713T>A (p.Val238Glu)
NM_000130.5(F5):c.72A>G (p.Gln24=)
NM_000130.5(F5):c.730+10G>C
NM_000130.5(F5):c.730+15G>T
NM_000130.5(F5):c.730+8G>A
NM_000130.5(F5):c.731-10T>A
NM_000130.5(F5):c.731-11C>T
NM_000130.5(F5):c.731-13C>T
NM_000130.5(F5):c.731-15C>T
NM_000130.5(F5):c.731-2A>T
NM_000130.5(F5):c.731-9C>A
NM_000130.5(F5):c.731-9C>G
NM_000130.5(F5):c.731-9C>T
NM_000130.5(F5):c.747C>A (p.Ala249=)
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000130.5(F5):c.783C>T (p.Ser261=)
NM_000130.5(F5):c.786G>A (p.Ser262=)
NM_000130.5(F5):c.795A>G (p.Glu265=)
NM_000130.5(F5):c.826C>T (p.Leu276=)
NM_000130.5(F5):c.843T>C (p.His281=)
NM_000130.5(F5):c.849C>G (p.Val283=)
NM_000130.5(F5):c.84G>A (p.Ala28=)
NM_000130.5(F5):c.861C>A (p.Thr287=)
NM_000130.5(F5):c.87A>G (p.Ala29=)
NM_000130.5(F5):c.883A>G (p.Thr295Ala)
NM_000130.5(F5):c.906A>G (p.Pro302=)
NM_000130.5(F5):c.933C>T (p.Leu311=)
NM_000130.5(F5):c.937C>G (p.Pro313Ala)
NM_000130.5(F5):c.93A>T (p.Leu31=)
NM_000130.5(F5):c.952+10T>A
NM_000130.5(F5):c.952+12T>C
NM_000130.5(F5):c.952+16G>A
NM_000130.5(F5):c.952+16G>T
NM_000130.5(F5):c.952+18C>T
NM_000130.5(F5):c.953-10C>T
NM_000130.5(F5):c.953-13T>C
NM_000130.5(F5):c.953-1G>A
NM_000130.5(F5):c.953-20G>A
NM_000130.5(F5):c.957G>C (p.Gly319=)
NM_000130.5(F5):c.966T>A (p.Ala322=)
NM_000130.5(F5):c.971T>C (p.Ile324Thr)
NM_000130.5(F5):c.986G>A (p.Cys329Tyr) rs574459300
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
NM_000130.5(F5):c.993G>A (p.Lys331=)

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