NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00805
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_018100.4(EFHC1):c.210A>G (p.Pro70=)
|
rs145367062
|
0.00385
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)
|
rs505760
|
0.00170
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)
|
rs374402088
|
0.00036
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)
|
rs558446131
|
0.00021
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
0.00019
|
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)
|
rs373196171
|
0.00015
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn)
|
rs146467751
|
0.00013
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)
|
rs369468811
|
0.00010
|
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr)
|
rs112800954
|
0.00010
|
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
NM_018100.4(EFHC1):c.912T>C (p.Asn304=)
|
rs373638109
|
0.00010
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)
|
rs749376467
|
0.00009
|
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)
|
rs781665913
|
0.00009
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
NM_018100.4(EFHC1):c.266A>G (p.His89Arg)
|
rs543160745
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)
|
rs200435907
|
0.00008
|
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)
|
rs371610025
|
0.00007
|
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)
|
rs773810917
|
0.00006
|
NM_018100.4(EFHC1):c.1279-4G>C
|
rs372831217
|
0.00006
|
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)
|
rs377286138
|
0.00006
|
NM_018100.4(EFHC1):c.1335T>C (p.Ala445=)
|
rs767652099
|
0.00006
|
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=)
|
rs546464826
|
0.00006
|
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=)
|
rs774640110
|
0.00006
|
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=)
|
rs369201702
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=)
|
rs137869409
|
0.00006
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
NM_018100.4(EFHC1):c.1A>G (p.Met1Val)
|
rs201520866
|
0.00006
|
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
|
rs201616140
|
0.00006
|
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
|
rs373625101
|
0.00006
|
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)
|
rs780571007
|
0.00006
|
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)
|
rs529767823
|
0.00005
|
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg)
|
rs200328198
|
0.00005
|
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
|
rs199604518
|
0.00005
|
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)
|
rs137852777
|
0.00005
|
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)
|
rs144447906
|
0.00004
|
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys)
|
rs144389178
|
0.00004
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)
|
rs770847993
|
0.00004
|
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
|
rs775601315
|
0.00004
|
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
|
rs374661645
|
0.00004
|
NM_018100.4(EFHC1):c.1602T>C (p.His534=)
|
rs570700601
|
0.00004
|
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=)
|
rs1045298708
|
0.00004
|
NM_018100.4(EFHC1):c.263C>T (p.Ala88Val)
|
rs145102896
|
0.00004
|
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys)
|
rs200375854
|
0.00004
|
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)
|
rs369777400
|
0.00004
|
NM_018100.4(EFHC1):c.573+5A>G
|
rs560584332
|
0.00004
|
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)
|
rs377165334
|
0.00004
|
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)
|
rs77682973
|
0.00004
|
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
|
rs779882152
|
0.00003
|
NM_018100.4(EFHC1):c.105C>T (p.Asn35=)
|
rs534406651
|
0.00003
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)
|
rs766874585
|
0.00003
|
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
|
rs773598517
|
0.00003
|
NM_018100.4(EFHC1):c.1279-9C>T
|
rs143254681
|
0.00003
|
NM_018100.4(EFHC1):c.1536T>G (p.Val512=)
|
rs775581363
|
0.00003
|
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly)
|
rs779990464
|
0.00003
|
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
|
rs759767484
|
0.00003
|
NM_018100.4(EFHC1):c.286-1G>A
|
rs1351442830
|
0.00003
|
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)
|
rs764096785
|
0.00003
|
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp)
|
rs1164027334
|
0.00003
|
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
|
rs201543041
|
0.00003
|
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg)
|
rs138973203
|
0.00003
|
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)
|
rs573582894
|
0.00002
|
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser)
|
rs546262142
|
0.00002
|
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys)
|
rs777659552
|
0.00002
|
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)
|
rs756563341
|
0.00002
|
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter)
|
rs776277918
|
0.00002
|
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys)
|
rs761440315
|
0.00002
|
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=)
|
rs772874099
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.1494G>A (p.Val498=)
|
rs1252426853
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.1629A>G (p.Pro543=)
|
rs1422352360
|
0.00002
|
NM_018100.4(EFHC1):c.16G>A (p.Val6Met)
|
rs772150303
|
0.00002
|
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)
|
rs373267174
|
0.00002
|
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)
|
rs747171841
|
0.00002
|
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)
|
rs368992606
|
0.00002
|
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)
|
rs745600475
|
0.00002
|
NM_018100.4(EFHC1):c.546C>T (p.Arg182=)
|
rs377349630
|
0.00002
|
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)
|
rs1430629936
|
0.00002
|
NM_018100.4(EFHC1):c.618G>A (p.Lys206=)
|
rs1374718335
|
0.00002
|
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)
|
rs267601073
|
0.00002
|
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)
|
rs571448222
|
0.00002
|
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)
|
rs375322518
|
0.00002
|
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=)
|
rs1163603161
|
0.00001
|
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
|
rs201118016
|
0.00001
|
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln)
|
rs769745156
|
0.00001
|
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=)
|
rs200024100
|
0.00001
|
NM_018100.4(EFHC1):c.1098del (p.Ile367fs)
|
rs1181131881
|
0.00001
|
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)
|
rs754355317
|
0.00001
|
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)
|
rs988250483
|
0.00001
|
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)
|
rs757987501
|
0.00001
|
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln)
|
rs535905126
|
0.00001
|
NM_018100.4(EFHC1):c.1138-10G>A
|
rs764297951
|
0.00001
|
NM_018100.4(EFHC1):c.1182del (p.Gln395fs)
|
rs753549012
|
0.00001
|
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys)
|
rs748229072
|
0.00001
|
NM_018100.4(EFHC1):c.125G>A (p.Arg42His)
|
rs773598517
|
0.00001
|
NM_018100.4(EFHC1):c.1278+10A>G
|
rs1765388049
|
0.00001
|
NM_018100.4(EFHC1):c.1279-8C>G
|
rs751569889
|
0.00001
|
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)
|
rs752642262
|
0.00001
|
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile)
|
rs753032457
|
0.00001
|
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser)
|
rs1562462191
|
0.00001
|
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)
|
rs373042342
|
0.00001
|
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)
|
rs201129694
|
0.00001
|
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
|
rs186911667
|
0.00001
|
NM_018100.4(EFHC1):c.1449C>G (p.Val483=)
|
rs999038193
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.1492+1G>A
|
rs191404037
|
0.00001
|
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)
|
rs372520849
|
0.00001
|
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr)
|
rs763313820
|
0.00001
|
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg)
|
rs752066434
|
0.00001
|
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)
|
rs759944784
|
0.00001
|
NM_018100.4(EFHC1):c.15C>T (p.Pro5=)
|
rs1339961633
|
0.00001
|
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
|
rs370815762
|
0.00001
|
NM_018100.4(EFHC1):c.1620G>A (p.Ala540=)
|
rs773438652
|
0.00001
|
NM_018100.4(EFHC1):c.1640+19G>C
|
rs1303813611
|
0.00001
|
NM_018100.4(EFHC1):c.1641-8C>A
|
rs1222704866
|
0.00001
|
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
|
rs543750772
|
0.00001
|
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=)
|
rs777238548
|
0.00001
|
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)
|
rs1331948538
|
0.00001
|
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
|
rs765750690
|
0.00001
|
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)
|
rs750083920
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)
|
rs766220714
|
0.00001
|
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)
|
rs200510672
|
0.00001
|
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
|
rs557599173
|
0.00001
|
NM_018100.4(EFHC1):c.249G>A (p.Ala83=)
|
rs149627167
|
0.00001
|
NM_018100.4(EFHC1):c.288A>G (p.Val96=)
|
rs1029149593
|
0.00001
|
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)
|
rs1451023675
|
0.00001
|
NM_018100.4(EFHC1):c.333T>C (p.Thr111=)
|
rs371542229
|
0.00001
|
NM_018100.4(EFHC1):c.339A>G (p.Glu113=)
|
rs774056218
|
0.00001
|
NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg)
|
rs759050400
|
0.00001
|
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
|
rs1277516532
|
0.00001
|
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)
|
rs769591944
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)
|
rs147882603
|
0.00001
|
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)
|
rs201379297
|
0.00001
|
NM_018100.4(EFHC1):c.639T>C (p.Thr213=)
|
rs1249877509
|
0.00001
|
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
|
rs776734177
|
0.00001
|
NM_018100.4(EFHC1):c.66A>G (p.Lys22=)
|
rs1286302392
|
0.00001
|
NM_018100.4(EFHC1):c.681A>G (p.Ser227=)
|
rs772096798
|
0.00001
|
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)
|
rs779993809
|
0.00001
|
NM_018100.4(EFHC1):c.693A>C (p.Gln231His)
|
rs375014511
|
0.00001
|
NM_018100.4(EFHC1):c.69A>T (p.Thr23=)
|
rs746911392
|
0.00001
|
NM_018100.4(EFHC1):c.702A>G (p.Gln234=)
|
rs1359654256
|
0.00001
|
NM_018100.4(EFHC1):c.723+10A>G
|
rs754567679
|
0.00001
|
NM_018100.4(EFHC1):c.723G>A (p.Gln241=)
|
rs750912328
|
0.00001
|
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn)
|
rs144739917
|
0.00001
|
NM_018100.4(EFHC1):c.762C>T (p.Ser254=)
|
rs375851193
|
0.00001
|
NM_018100.4(EFHC1):c.789C>T (p.Ile263=)
|
rs148936911
|
0.00001
|
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)
|
rs536323609
|
0.00001
|
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)
|
rs143655397
|
0.00001
|
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln)
|
rs758695181
|
0.00001
|
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
|
rs553105915
|
0.00001
|
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp)
|
rs1172185919
|
0.00001
|
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys)
|
rs17851771
|
0.00001
|
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys)
|
rs199814370
|
0.00001
|
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)
|
rs201263733
|
0.00001
|
NM_018100.4(EFHC1):c.917-7A>C
|
rs1266698847
|
0.00001
|
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
|
rs144708524
|
0.00001
|
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)
|
rs1452409120
|
0.00001
|
NM_018100.4(EFHC1):c.961T>C (p.Leu321=)
|
rs751733899
|
0.00001
|
NC_000006.11:g.(?_52329683)_(52334281_?)del
|
|
|
NC_000006.12:g.(?_52423789)_(52492432_?)del
|
|
|
NC_000006.12:g.(?_52479017)_(52492432_?)del
|
|
|
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)
|
rs1231287887
|
|
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys)
|
rs533695444
|
|
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly)
|
rs1765271296
|
|
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer)
|
rs1765271672
|
|
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter)
|
rs1765273374
|
|
NM_018100.4(EFHC1):c.1138-4C>G
|
rs777292013
|
|
NM_018100.4(EFHC1):c.1138-6C>T
|
rs932580766
|
|
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)
|
rs566874147
|
|
NM_018100.4(EFHC1):c.1171del (p.Glu391fs)
|
rs1218368055
|
|
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr)
|
rs1562458726
|
|
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)
|
rs754483740
|
|
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val)
|
rs1765386430
|
|
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
|
rs796052418
|
|
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=)
|
rs1554261597
|
|
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu)
|
rs771316611
|
|
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly)
|
rs776277918
|
|
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)
|
rs1764249661
|
|
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
|
rs1765610593
|
|
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
|
rs1765610823
|
|
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)
|
rs369468811
|
|
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala)
|
rs2114023582
|
|
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)
|
rs760025678
|
|
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)
|
rs368238981
|
|
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
|
rs768684304
|
|
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile)
|
rs973650043
|
|
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)
|
rs1765630267
|
|
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)
|
rs1554261668
|
|
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)
|
rs1199507059
|
|
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)
|
rs766675010
|
|
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)
|
rs2114024468
|
|
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu)
|
rs1433410236
|
|
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter)
|
rs779990464
|
|
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)
|
rs1765633745
|
|
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg)
|
rs763151746
|
|
NM_018100.4(EFHC1):c.1626T>C (p.Ala542=)
|
rs2114024594
|
|
NM_018100.4(EFHC1):c.1640+3G>T
|
rs1581847690
|
|
NM_018100.4(EFHC1):c.1641-6C>G
|
rs1554262183
|
|
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser)
|
rs1581854254
|
|
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)
|
rs772265107
|
|
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)
|
rs1765867667
|
|
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro)
|
rs752701116
|
|
NM_018100.4(EFHC1):c.1746A>G (p.Ala582=)
|
rs1396508732
|
|
NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=)
|
rs1765869162
|
|
NM_018100.4(EFHC1):c.1767A>G (p.Glu589=)
|
rs1562466034
|
|
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=)
|
rs1581854375
|
|
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
|
rs1765870228
|
|
NM_018100.4(EFHC1):c.1827A>G (p.Pro609=)
|
rs2114037054
|
|
NM_018100.4(EFHC1):c.1841_1851+13del
|
rs775583843
|
|
NM_018100.4(EFHC1):c.1851+8T>A
|
rs1765873500
|
|
NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile)
|
rs2114039449
|
|
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=)
|
rs1554262324
|
|
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser)
|
rs758464930
|
|
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser)
|
rs199604518
|
|
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
|
rs757990962
|
|
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val)
|
rs1764251712
|
|
NM_018100.4(EFHC1):c.21T>G (p.His7Gln)
|
rs775530837
|
|
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
|
rs11552772
|
|
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg)
|
rs1764252445
|
|
NM_018100.4(EFHC1):c.237A>T (p.Gln79His)
|
rs2113966975
|
|
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)
|
rs1562442253
|
|
NM_018100.4(EFHC1):c.277G>C (p.Asp93His)
|
rs1764254615
|
|
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
|
rs1764162488
|
|
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
|
rs1764580689
|
|
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
|
rs1764582038
|
|
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys)
|
rs757440981
|
|
NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
|
rs2113979351
|
|
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)
|
rs1554258778
|
|
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly)
|
rs1481620865
|
|
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)
|
rs1554257650
|
|
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
|
rs191656603
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)
|
rs995402027
|
|
NM_018100.4(EFHC1):c.504A>G (p.Leu168=)
|
rs1405675667
|
|
NM_018100.4(EFHC1):c.528T>A (p.Ile176=)
|
rs2113979621
|
|
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)
|
rs1764588785
|
|
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer)
|
rs1562447137
|
|
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val)
|
rs759793242
|
|
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter)
|
rs1764941998
|
|
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)
|
rs201379297
|
|
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)
|
rs1554259746
|
|
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
|
|
|
NM_018100.4(EFHC1):c.678A>T (p.Pro226=)
|
rs1060504898
|
|
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)
|
rs775980459
|
|
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn)
|
rs765821468
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
NM_018100.4(EFHC1):c.723+66del
|
rs142210037
|
|
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val)
|
rs1562453181
|
|
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg)
|
rs747450415
|
|
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)
|
rs137852778
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)
|
rs796052413
|
|
NM_018100.4(EFHC1):c.816G>C (p.Thr272=)
|
rs765401978
|
|
NM_018100.4(EFHC1):c.819G>A (p.Val273=)
|
rs1764987409
|
|
NM_018100.4(EFHC1):c.840A>G (p.Glu280=)
|
rs1764987965
|
|
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn)
|
rs1284999394
|
|
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys)
|
rs1562453330
|
|
NM_018100.4(EFHC1):c.915A>G (p.Ala305=)
|
rs1060503381
|
|
NM_018100.4(EFHC1):c.917-6T>C
|
|
|
NM_018100.4(EFHC1):c.917-7A>G
|
rs1266698847
|
|