NM_018100.4(EFHC1):c.*881A>T
|
rs6926242
|
0.90714
|
NM_018100.4(EFHC1):c.*121C>A
|
rs7757370
|
0.87583
|
NM_018100.4(EFHC1):c.*1180G>A
|
rs4455668
|
0.87433
|
NM_018100.4(EFHC1):c.1851+58T>C
|
rs2273120
|
0.69438
|
NM_018100.4(EFHC1):c.286-180T>A
|
rs9370122
|
0.32317
|
NM_018100.4(EFHC1):c.1278+100T>C
|
rs62407897
|
0.18961
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_018100.4(EFHC1):c.63+123G>C
|
rs12206743
|
0.18197
|
NM_018100.4(EFHC1):c.1492+175_1492+176del
|
rs55987008
|
0.09578
|
NM_018100.4(EFHC1):c.*871C>G
|
rs78956562
|
0.09084
|
NM_018100.4(EFHC1):c.917-118G>T
|
rs3804502
|
0.09052
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_018100.4(EFHC1):c.1640+77A>C
|
rs515432
|
0.07945
|
NM_018100.4(EFHC1):c.286-54G>T
|
rs539295
|
0.07944
|
NM_018100.4(EFHC1):c.1138-293del
|
rs112649755
|
0.07937
|
NM_018100.4(EFHC1):c.917-183G>A
|
rs16882561
|
0.07623
|
NM_018100.4(EFHC1):c.*1025A>C
|
rs547999372
|
0.07191
|
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_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
NM_018100.4(EFHC1):c.1851+226A>G
|
rs2397091
|
0.04132
|
NM_018100.4(EFHC1):c.1851+279C>T
|
rs72925221
|
0.03244
|
NM_018100.4(EFHC1):c.*1023A>C
|
rs531389664
|
0.02945
|
NM_018100.4(EFHC1):c.*1044_*1045insA
|
rs1554262447
|
0.01320
|
NM_018100.4(EFHC1):c.*1027A>C
|
rs190868766
|
0.01316
|
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.1493-34C>T
|
rs77741653
|
0.00605
|
NM_018100.4(EFHC1):c.1137+31G>T
|
rs115160207
|
0.00595
|
NM_018100.4(EFHC1):c.1279-57G>T
|
rs115736914
|
0.00594
|
NM_018100.4(EFHC1):c.917-72G>A
|
rs114196074
|
0.00594
|
NC_000006.12:g.52420101A>G
|
rs150082340
|
0.00588
|
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
|
NC_000006.12:g.52420332G>T
|
rs114013470
|
0.00080
|
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.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
0.00019
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
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.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
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.1892A>G (p.Tyr631Cys)
|
rs574948354
|
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.1306C>T (p.Arg436Cys)
|
rs377286138
|
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.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
NM_018100.4(EFHC1):c.1907G>A (p.Arg636His)
|
rs745406233
|
0.00006
|
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
|
rs374661645
|
0.00004
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)
|
rs201197637
|
0.00003
|
NM_018100.4(EFHC1):c.627T>C (p.Leu209=)
|
rs141142186
|
0.00003
|
NM_018100.4(EFHC1):c.724-14T>A
|
rs756262882
|
0.00003
|
NM_018100.4(EFHC1):c.1454A>G (p.Tyr485Cys)
|
rs534797617
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.19C>G (p.His7Asp)
|
rs796052419
|
0.00002
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
NM_018100.4(EFHC1):c.1187A>G (p.Asn396Ser)
|
rs745982377
|
0.00001
|
NM_018100.4(EFHC1):c.1278+15T>C
|
rs376515287
|
0.00001
|
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)
|
rs372520849
|
0.00001
|
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)
|
rs149998588
|
0.00001
|
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)
|
rs200510672
|
0.00001
|
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)
|
rs769591944
|
0.00001
|
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)
|
rs779993809
|
0.00001
|
GRCh37/hg19 6p12.2(chr6:52302945-52319369)x3
|
|
|
NC_000006.12:g.52419923G>C
|
rs492153
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
NM_018100.4(EFHC1):c.*1045_*1046insATATATATATATA
|
rs60720755
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
NM_018100.4(EFHC1):c.-13G>A
|
rs1057520834
|
|
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)
|
rs566874147
|
|
NM_018100.4(EFHC1):c.1172A>G (p.Glu391Gly)
|
rs796052417
|
|
NM_018100.4(EFHC1):c.1270G>T (p.Ala424Ser)
|
rs796052418
|
|
NM_018100.4(EFHC1):c.1314del (p.Phe438fs)
|
rs796052421
|
|
NM_018100.4(EFHC1):c.1443C>A (p.Asn481Lys)
|
rs186911667
|
|
NM_018100.4(EFHC1):c.1763A>G (p.Lys588Arg)
|
rs1554262192
|
|
NM_018100.4(EFHC1):c.1852-48G>T
|
rs60636755
|
|
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.63+2T>C
|
rs796052420
|
|
NM_018100.4(EFHC1):c.64-158G>C
|
rs62407871
|
|
NM_018100.4(EFHC1):c.64-262del
|
rs59383268
|
|
NM_018100.4(EFHC1):c.680C>T (p.Ser227Leu)
|
rs796052412
|
|
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)
|
rs796052413
|
|
NM_018100.4(EFHC1):c.826C>G (p.Arg276Gly)
|
rs796052414
|
|
NM_018100.4(EFHC1):c.84T>A (p.Ser28Arg)
|
rs796052415
|
|
NM_018100.4(EFHC1):c.916+166C>T
|
rs614570
|
|
NM_018100.4(EFHC1):c.922T>A (p.Phe308Ile)
|
rs796052416
|
|
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe)
|
rs1057521631
|
|