NM_018100.4(EFHC1):c.*1024C>T
|
rs372975445
|
0.03953
|
NM_018100.3(EFHC1):c.-162C>T
|
rs41273738
|
0.00472
|
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.*624A>T
|
rs755272601
|
0.00332
|
NM_000726.5(CACNB4):c.*5022A>G
|
rs548177540
|
0.00298
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_018100.4(EFHC1):c.*1876T>G
|
rs148070071
|
0.00194
|
NM_018100.4(EFHC1):c.*99T>A
|
rs151292895
|
0.00110
|
NM_000726.5(CACNB4):c.*737C>T
|
rs558590558
|
0.00096
|
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.*592T>C
|
rs779110885
|
0.00039
|
NM_018100.4(EFHC1):c.*1576C>A
|
rs547537212
|
0.00029
|
NM_000726.5(CACNB4):c.*1952C>A
|
rs764877003
|
0.00026
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_000726.5(CACNB4):c.*795T>G
|
rs766545084
|
0.00019
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_018100.4(EFHC1):c.*2211C>T
|
rs753392817
|
0.00012
|
NM_000726.5(CACNB4):c.*1520del
|
rs374745796
|
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_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.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_000726.5(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.*2542G>A
|
rs886054957
|
|
NM_000726.5(CACNB4):c.*442_*443del
|
rs886054966
|
|
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.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_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.*1045delinsATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA
|
rs886061633
|
|
NM_018100.4(EFHC1):c.*1064AC[4]
|
rs886061634
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
NM_018100.4(EFHC1):c.*1481TC[1]
|
rs886061636
|
|
NM_018100.4(EFHC1):c.*1813dup
|
rs201262358
|
|
NM_018100.4(EFHC1):c.*2913G>C
|
rs886061639
|
|
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.666_671del (p.Lys222_Val224delinsAsn)
|
rs886061628
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|