NM_020247.4(COQ8A):c.*815C>T
|
rs10495274
|
0.53093
|
NM_020247.5(COQ8A):c.1660-9T>C
|
rs7552783
|
0.45219
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_021830.5(TWNK):c.-605G>T
|
rs3740484
|
0.35155
|
NM_020247.5(COQ8A):c.*464G>A
|
rs8159
|
0.31059
|
NM_021830.5(TWNK):c.*766A>T
|
rs3740488
|
0.28823
|
NM_021830.5(TWNK):c.1593-5C>T
|
rs3740485
|
0.28642
|
NM_021830.5(TWNK):c.1593-3T>C
|
rs3740486
|
0.28631
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_021830.5(TWNK):c.*521C>G
|
rs11542131
|
0.08029
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_020247.5(COQ8A):c.-10+8T>C
|
rs145688619
|
0.01402
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_020247.5(COQ8A):c.*133G>A
|
rs149820067
|
0.01173
|
NM_020247.5(COQ8A):c.*790A>G
|
rs12565212
|
0.00855
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_020247.5(COQ8A):c.*349G>A
|
rs113041399
|
0.00729
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_020247.4(COQ8A):c.-137C>A
|
rs557786445
|
0.00166
|
NM_020247.5(COQ8A):c.*230G>A
|
rs117808661
|
0.00143
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470
|
0.00046
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_020247.5(COQ8A):c.1399-13G>A
|
rs73087649
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_021830.5(TWNK):c.*453G>A
|
rs769950933
|
0.00040
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094
|
0.00026
|
NM_021830.5(TWNK):c.-592C>T
|
rs774214514
|
0.00026
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_021830.5(TWNK):c.-418C>T
|
rs750659283
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_021830.5(TWNK):c.*341G>A
|
rs1007423847
|
0.00014
|
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)
|
rs141423403
|
0.00013
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_020247.5(COQ8A):c.-113A>G
|
rs886046063
|
0.00012
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
0.00011
|
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)
|
rs190532690
|
0.00010
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_020247.5(COQ8A):c.*570T>C
|
rs778729725
|
0.00008
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)
|
rs200016211
|
0.00005
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633
|
0.00004
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634
|
0.00004
|
NM_021830.5(TWNK):c.*561C>T
|
rs901722933
|
0.00004
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636
|
0.00004
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625
|
0.00004
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
rs774091248
|
0.00004
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
rs139124415
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_018075.4(ANO10):c.-140G>A
|
rs886058485
|
0.00002
|
NM_018319.4(TDP1):c.-232A>C
|
rs886050882
|
0.00002
|
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)
|
rs752409331
|
0.00002
|
NM_021830.5(TWNK):c.*552G>C
|
rs111434414
|
0.00002
|
NM_021830.5(TWNK):c.*769G>A
|
rs919556945
|
0.00002
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465
|
0.00002
|
NM_020247.5(COQ8A):c.*150C>T
|
rs755137919
|
0.00001
|
NM_020247.5(COQ8A):c.*22C>T
|
rs374941896
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296
|
0.00001
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637
|
0.00001
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632
|
0.00001
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
rs753457416
|
0.00001
|
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)
|
rs1402216317
|
|
NM_018075.5(ANO10):c.*464C>T
|
rs886058475
|
|
NM_018075.5(ANO10):c.*74dup
|
rs556549778
|
|
NM_018075.5(ANO10):c.-95del
|
rs886058483
|
|
NM_018075.5(ANO10):c.1294-3del
|
rs778730043
|
|
NM_018319.3(TDP1):c.-276_-274dupCCG
|
rs35210768
|
|
NM_018319.4(TDP1):c.*608del
|
rs397897279
|
|
NM_018319.4(TDP1):c.*89_*90dup
|
rs397721425
|
|
NM_020247.4(COQ8A):c.*807_*808insT
|
rs3215920
|
|
NM_020247.5(COQ8A):c.*252A>C
|
rs886046070
|
|
NM_020247.5(COQ8A):c.*326C>G
|
rs886046071
|
|
NM_020247.5(COQ8A):c.*389dup
|
rs11420839
|
|
NM_020247.5(COQ8A):c.*693G>T
|
rs886046074
|
|
NM_020247.5(COQ8A):c.1163-10C>T
|
rs886046067
|
|
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)
|
rs74589348
|
|
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)
|
rs760566419
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_021830.5(TWNK):c.*248G>A
|
rs1851850715
|
|
NM_021830.5(TWNK):c.*346A>C
|
rs1851852761
|
|
NM_021830.5(TWNK):c.*472GA[2]
|
rs370783985
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635
|
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638
|
|
NM_021830.5(TWNK):c.*803A>G
|
rs886046640
|
|
NM_021830.5(TWNK):c.-105T>C
|
rs886046629
|
|
NM_021830.5(TWNK):c.-304G>A
|
rs200599543
|
|
NM_021830.5(TWNK):c.-306GT[1]
|
rs146265037
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627
|
|
NM_021830.5(TWNK):c.-584G>C
|
rs1564806518
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624
|
|
NM_021830.5(TWNK):c.-622C>T
|
rs993449080
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)
|
rs886046630
|
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631
|
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
rs1564807938
|
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026
|
|