NM_000726.5(CACNB4):c.*5385C>T
|
rs1568673
|
0.93666
|
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.*3144T>A
|
rs3789772
|
0.70161
|
NM_000726.5(CACNB4):c.*442G>A
|
rs7597215
|
0.39502
|
NM_018100.4(EFHC1):c.*3406T>C
|
rs6919266
|
0.36710
|
NM_000726.5(CACNB4):c.*3804G>C
|
rs2344734
|
0.33115
|
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_000726.5(CACNB4):c.*1185T>C
|
rs13410490
|
0.11625
|
NM_000726.5(CACNB4):c.*1186G>T
|
rs72868010
|
0.09750
|
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_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_000726.5(CACNB4):c.*5029T>C
|
rs16830412
|
0.05230
|
NM_000726.5(CACNB4):c.*890G>C
|
rs78697588
|
0.04885
|
NM_018100.3(EFHC1):c.-195A>G
|
rs2296196
|
0.04417
|
NM_018100.4(EFHC1):c.*1024C>T
|
rs372975445
|
0.03953
|
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.*3157T>A
|
rs10497086
|
0.02768
|
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_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_000726.5(CACNB4):c.*2837A>G
|
rs138327808
|
0.00888
|
NM_000726.5(CACNB4):c.*528A>T
|
rs111999910
|
0.00814
|
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.-25G>T
|
rs143675846
|
0.00516
|
NM_018100.3(EFHC1):c.-162C>T
|
rs41273738
|
0.00472
|
NM_000726.5(CACNB4):c.*2391T>G
|
rs143821304
|
0.00454
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_018100.4(EFHC1):c.*896C>T
|
rs112311115
|
0.00399
|
NM_000726.5(CACNB4):c.*2729G>A
|
rs144329745
|
0.00357
|
NM_000726.5(CACNB4):c.*624A>T
|
rs755272601
|
0.00332
|
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.*5022A>G
|
rs548177540
|
0.00298
|
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_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.*1876T>G
|
rs148070071
|
0.00194
|
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_018100.4(EFHC1):c.*99T>A
|
rs151292895
|
0.00110
|
NM_000726.5(CACNB4):c.*1814G>A
|
rs181447432
|
0.00103
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
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.64-5T>C
|
rs201860746
|
0.00063
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_018100.4(EFHC1):c.*527C>T
|
rs540732861
|
0.00050
|
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.*592T>C
|
rs779110885
|
0.00039
|
NM_000726.5(CACNB4):c.*4131A>G
|
rs373381936
|
0.00036
|
NM_018100.4(EFHC1):c.*1576C>A
|
rs547537212
|
0.00029
|
NM_000726.5(CACNB4):c.*1952C>A
|
rs764877003
|
0.00026
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
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.*795T>G
|
rs766545084
|
0.00019
|
NM_000726.5(CACNB4):c.*1009C>T
|
rs367723727
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_000726.5(CACNB4):c.*3475A>T
|
rs567549082
|
0.00012
|
NM_018100.4(EFHC1):c.*2211C>T
|
rs753392817
|
0.00012
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_000726.5(CACNB4):c.*1520del
|
rs374745796
|
0.00011
|
NM_000726.5(CACNB4):c.*1910_*1911del
|
rs372743707
|
0.00011
|
NM_000726.5(CACNB4):c.*4145T>C
|
rs781255950
|
0.00011
|
NM_018100.4(EFHC1):c.*2430C>T
|
rs749445189
|
0.00010
|
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)
|
rs369468811
|
0.00010
|
NM_000726.5(CACNB4):c.*4919G>A
|
rs763593694
|
0.00009
|
NM_000726.5(CACNB4):c.*5487T>C
|
rs111700454
|
0.00009
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_000726.5(CACNB4):c.*1785G>A
|
rs886054961
|
0.00006
|
NM_000726.5(CACNB4):c.*1931T>C
|
rs886054958
|
0.00006
|
NM_000726.5(CACNB4):c.*4569A>G
|
rs778742650
|
0.00006
|
NM_018100.4(EFHC1):c.*681G>A
|
rs560182875
|
0.00006
|
NM_018100.4(EFHC1):c.*957C>T
|
rs761411516
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_000726.5(CACNB4):c.*4081G>A
|
rs148903851
|
0.00004
|
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.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_000726.5(CACNB4):c.*1937T>G
|
rs758893086
|
0.00003
|
NM_000726.5(CACNB4):c.*5122C>T
|
rs187940787
|
0.00003
|
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)
|
rs376015337
|
0.00003
|
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)
|
rs201197637
|
0.00003
|
NM_000726.5(CACNB4):c.*3387C>G
|
rs886054955
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
NM_000726.5(CACNB4):c.*1811C>A
|
rs886054960
|
0.00001
|
NM_000726.5(CACNB4):c.*2924T>C
|
rs886054956
|
0.00001
|
NM_000726.5(CACNB4):c.*3688G>A
|
rs886054954
|
0.00001
|
NM_000726.5(CACNB4):c.177G>A (p.Pro59=)
|
rs552093496
|
0.00001
|
NM_000726.5(CACNB4):c.521+9C>T
|
rs747291810
|
0.00001
|
NM_000726.5(CACNB4):c.64-4C>T
|
rs886054970
|
0.00001
|
NM_018100.4(EFHC1):c.*2023T>C
|
rs886061638
|
0.00001
|
NM_018100.4(EFHC1):c.*226A>G
|
rs562067977
|
0.00001
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)
|
rs149998588
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly)
|
rs886061627
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NM_000726.4(CACNB4):c.-57G>T
|
rs886054971
|
|
NM_000726.4(CACNB4):c.-70G>A
|
rs183873853
|
|
NM_000726.5(CACNB4):c.*1501del
|
rs886054963
|
|
NM_000726.5(CACNB4):c.*1501dup
|
rs886054963
|
|
NM_000726.5(CACNB4):c.*151del
|
rs79470866
|
|
NM_000726.5(CACNB4):c.*151dup
|
rs79470866
|
|
NM_000726.5(CACNB4):c.*1635T>C
|
rs886054962
|
|
NM_000726.5(CACNB4):c.*1826A>G
|
rs886054959
|
|
NM_000726.5(CACNB4):c.*2188del
|
rs75297236
|
|
NM_000726.5(CACNB4):c.*2542G>A
|
rs886054957
|
|
NM_000726.5(CACNB4):c.*3668T>C
|
rs543493236
|
|
NM_000726.5(CACNB4):c.*442_*443del
|
rs886054966
|
|
NM_000726.5(CACNB4):c.*443A>G
|
rs538829019
|
|
NM_000726.5(CACNB4):c.*454del
|
rs879114509
|
|
NM_000726.5(CACNB4):c.*454dup
|
rs879114509
|
|
NM_000726.5(CACNB4):c.*4845T>C
|
rs886054953
|
|
NM_000726.5(CACNB4):c.*5418T>C
|
rs886054952
|
|
NM_000726.5(CACNB4):c.*5863T>G
|
rs886054951
|
|
NM_000726.5(CACNB4):c.*5977G>T
|
rs886054950
|
|
NM_000726.5(CACNB4):c.*5995dup
|
rs886054949
|
|
NM_000726.5(CACNB4):c.*624del
|
rs11291336
|
|
NM_000726.5(CACNB4):c.*787del
|
rs560958457
|
|
NM_000726.5(CACNB4):c.187G>C (p.Asp63His)
|
rs886054969
|
|
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe)
|
rs886054968
|
|
NM_000726.5(CACNB4):c.642T>C (p.Asp214=)
|
rs886054967
|
|
NM_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
NM_001127644.2(GABRA1):c.*304del
|
rs547262225
|
|
NM_001127644.2(GABRA1):c.-117GACTCG[3]
|
rs527890421
|
|
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=)
|
rs886060361
|
|
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
|
|
|
NM_018100.3(EFHC1):c.-148_-147GC[1]
|
rs796720054
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[13]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[14]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[19]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[20]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[21]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1025AT[9]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1064AC[4]
|
rs886061634
|
|
NM_018100.4(EFHC1):c.*1325dup
|
rs35994917
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
NM_018100.4(EFHC1):c.*1481TC[1]
|
rs886061636
|
|
NM_018100.4(EFHC1):c.*1749_*1750insAC
|
rs58779695
|
|
NM_018100.4(EFHC1):c.*1813dup
|
rs201262358
|
|
NM_018100.4(EFHC1):c.*2913G>C
|
rs886061639
|
|
NM_018100.4(EFHC1):c.*392A>C
|
rs9463792
|
|
NM_018100.4(EFHC1):c.*549TA[3]
|
rs886061631
|
|
NM_018100.4(EFHC1):c.*66C>G
|
rs574373324
|
|
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=)
|
rs886061630
|
|
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=)
|
rs1581846971
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn)
|
rs886061628
|
|
NM_018100.4(EFHC1):c.723+18_723+19insG
|
rs1581829739
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|