NM_018100.4(EFHC1):c.*881A>T
|
rs6926242
|
0.90714
|
NM_018100.4(EFHC1):c.*3144T>A
|
rs3789772
|
0.70161
|
NM_018100.4(EFHC1):c.*3406T>C
|
rs6919266
|
0.36710
|
NM_018100.4(EFHC1):c.*2972C>G
|
rs9367485
|
0.18894
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_018100.4(EFHC1):c.*1490C>A
|
rs2397092
|
0.18321
|
NM_018100.4(EFHC1):c.*2419A>G
|
rs9474228
|
0.17191
|
NM_018100.4(EFHC1):c.*871C>G
|
rs78956562
|
0.09084
|
NM_018100.4(EFHC1):c.*3192G>A
|
rs3789771
|
0.08613
|
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_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
NM_000726.5(CACNB4):c.*4771G>A
|
rs80248494
|
0.03690
|
NM_018100.4(EFHC1):c.*2164G>A
|
rs59722297
|
0.02831
|
NM_000726.5(CACNB4):c.*1656T>C
|
rs62174451
|
0.02784
|
NM_000726.5(CACNB4):c.*2885T>C
|
rs116457978
|
0.01717
|
NM_000726.5(CACNB4):c.*2163G>A
|
rs80306085
|
0.01698
|
NM_000726.5(CACNB4):c.*2778A>C
|
rs114659375
|
0.01105
|
NM_000726.5(CACNB4):c.*1459T>C
|
rs114958916
|
0.01102
|
NM_000726.5(CACNB4):c.*865G>A
|
rs75365487
|
0.00988
|
NM_000726.5(CACNB4):c.*2837A>G
|
rs138327808
|
0.00888
|
NM_000726.5(CACNB4):c.*528A>T
|
rs111999910
|
0.00814
|
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_000726.5(CACNB4):c.*5372T>C
|
rs150406641
|
0.00778
|
NM_000726.5(CACNB4):c.*2210A>G
|
rs114341631
|
0.00772
|
NM_000726.5(CACNB4):c.*2695G>T
|
rs74894311
|
0.00768
|
NM_000726.5(CACNB4):c.*4773A>G
|
rs113408437
|
0.00714
|
NM_000726.5(CACNB4):c.*1284T>G
|
rs112989362
|
0.00674
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_000726.5(CACNB4):c.*2391T>G
|
rs143821304
|
0.00454
|
NM_000726.5(CACNB4):c.*2729G>A
|
rs144329745
|
0.00357
|
NM_000726.5(CACNB4):c.*6140G>T
|
rs74944346
|
0.00321
|
NM_000726.5(CACNB4):c.599-15G>A
|
rs41270209
|
0.00314
|
NM_000726.5(CACNB4):c.*5855A>C
|
rs118093432
|
0.00312
|
NM_000726.5(CACNB4):c.*1942T>C
|
rs139629003
|
0.00300
|
NM_000726.5(CACNB4):c.*1909C>T
|
rs113319414
|
0.00256
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_018100.4(EFHC1):c.*233T>A
|
rs538486876
|
0.00193
|
NM_000726.5(CACNB4):c.*5622C>T
|
rs187012852
|
0.00191
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_000726.5(CACNB4):c.*1093T>C
|
rs142139235
|
0.00122
|
NM_000726.5(CACNB4):c.*2188T>G
|
rs548234328
|
0.00122
|
NM_000726.5(CACNB4):c.*1814G>A
|
rs181447432
|
0.00103
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_000726.5(CACNB4):c.*4969G>A
|
rs537140595
|
0.00076
|
NM_000726.5(CACNB4):c.*1110C>A
|
rs147608603
|
0.00074
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_000726.5(CACNB4):c.*4976T>C
|
rs191424720
|
0.00042
|
NM_000726.5(CACNB4):c.*5562A>G
|
rs192309143
|
0.00042
|
NM_000726.5(CACNB4):c.*4131A>G
|
rs373381936
|
0.00036
|
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_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_000726.5(CACNB4):c.*4570T>C
|
rs549017506
|
0.00019
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
NM_000726.5(CACNB4):c.*1009C>T
|
rs367723727
|
0.00014
|
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_000726.5(CACNB4):c.*3475A>T
|
rs567549082
|
0.00012
|
NM_000726.5(CACNB4):c.*1910_*1911del
|
rs372743707
|
0.00011
|
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.89C>T (p.Thr30Met)
|
rs200435907
|
0.00008
|
NM_018100.4(EFHC1):c.1279-4G>C
|
rs372831217
|
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.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.1523C>G (p.Thr508Arg)
|
rs200328198
|
0.00005
|
NM_000726.5(CACNB4):c.*5433A>G
|
rs563567053
|
0.00004
|
NM_000726.5(CACNB4):c.*6183A>G
|
rs185830609
|
0.00004
|
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)
|
rs144447906
|
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.451C>T (p.Arg151Cys)
|
rs200375854
|
0.00004
|
NM_018100.4(EFHC1):c.105C>T (p.Asn35=)
|
rs534406651
|
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.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=)
|
rs772874099
|
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.546C>T (p.Arg182=)
|
rs377349630
|
0.00002
|
NM_018100.4(EFHC1):c.618G>A (p.Lys206=)
|
rs1374718335
|
0.00002
|
NM_000726.5(CACNB4):c.177G>A (p.Pro59=)
|
rs552093496
|
0.00001
|
NM_000726.5(CACNB4):c.521+9C>T
|
rs747291810
|
0.00001
|
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=)
|
rs1163603161
|
0.00001
|
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=)
|
rs200024100
|
0.00001
|
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)
|
rs754355317
|
0.00001
|
NM_018100.4(EFHC1):c.1138-10G>A
|
rs764297951
|
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.1449C>G (p.Val483=)
|
rs999038193
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
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.22G>C (p.Gly8Arg)
|
rs200510672
|
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.333T>C (p.Thr111=)
|
rs371542229
|
0.00001
|
NM_018100.4(EFHC1):c.339A>G (p.Glu113=)
|
rs774056218
|
0.00001
|
NM_018100.4(EFHC1):c.639T>C (p.Thr213=)
|
rs1249877509
|
0.00001
|
NM_018100.4(EFHC1):c.681A>G (p.Ser227=)
|
rs772096798
|
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.789C>T (p.Ile263=)
|
rs148936911
|
0.00001
|
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
|
rs553105915
|
0.00001
|
NM_018100.4(EFHC1):c.917-7A>C
|
rs1266698847
|
0.00001
|
NM_018100.4(EFHC1):c.961T>C (p.Leu321=)
|
rs751733899
|
0.00001
|
NM_000726.4(CACNB4):c.-70G>A
|
rs183873853
|
|
NM_000726.5(CACNB4):c.*3668T>C
|
rs543493236
|
|
NM_000726.5(CACNB4):c.*443A>G
|
rs538829019
|
|
NM_000726.5(CACNB4):c.*787del
|
rs560958457
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[9]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1325dup
|
rs35994917
|
|
NM_018100.4(EFHC1):c.*392A>C
|
rs9463792
|
|
NM_018100.4(EFHC1):c.1138-4C>G
|
rs777292013
|
|
NM_018100.4(EFHC1):c.1138-6C>T
|
rs932580766
|
|
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=)
|
rs1554261597
|
|
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)
|
rs368238981
|
|
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)
|
rs1199507059
|
|
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)
|
rs2114024468
|
|
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.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.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.1866C>T (p.Cys622=)
|
rs1554262324
|
|
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
|
rs1764580689
|
|
NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
|
rs2113979351
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
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.672C>A (p.Val224=)
|
|
|
NM_018100.4(EFHC1):c.678A>T (p.Pro226=)
|
rs1060504898
|
|
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.917-6T>C
|
|
|
NM_018100.4(EFHC1):c.917-7A>G
|
rs1266698847
|
|