NM_001349.4(DARS1):c.124+67A>G
|
rs687670
|
0.50631
|
NM_001349.4(DARS1):c.677-46T>C
|
rs309158
|
0.25523
|
NM_001349.4(DARS1):c.-105C>G
|
rs2278682
|
0.21930
|
NM_001349.4(DARS1):c.960-86T>C
|
rs309172
|
0.19678
|
NM_001349.4(DARS1):c.505-13T>C
|
rs371309040
|
0.19073
|
NM_001349.4(DARS1):c.218-105T>C
|
rs6430594
|
0.16675
|
NM_001349.4(DARS1):c.66+34A>G
|
rs2278681
|
0.04614
|
NM_001349.4(DARS1):c.504+123C>T
|
rs309163
|
0.02498
|
NM_001349.4(DARS1):c.1417T>C (p.Leu473=)
|
rs76296777
|
0.02298
|
NM_001349.4(DARS1):c.959+104C>A
|
rs113342018
|
0.02295
|
NM_001349.4(DARS1):c.-100T>C
|
rs6752967
|
0.02290
|
NM_001349.4(DARS1):c.-42C>G
|
rs11548872
|
0.01112
|
NM_001349.4(DARS1):c.504+34G>A
|
rs111716305
|
0.00938
|
NM_001349.4(DARS1):c.1342+14A>G
|
rs115876148
|
0.00929
|
NM_001349.4(DARS1):c.1414+18C>T
|
rs115253602
|
0.00913
|
NM_001349.4(DARS1):c.67-149T>G
|
rs115691888
|
0.00910
|
NC_000002.12:g.135985829T>C
|
rs79018926
|
0.00825
|
NM_001349.4(DARS1):c.676+125del
|
rs200100343
|
0.00822
|
NM_001349.4(DARS1):c.802A>G (p.Ile268Val)
|
rs60318326
|
0.00614
|
NM_001349.4(DARS1):c.423+21A>G
|
rs79137850
|
0.00533
|
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
|
rs141522501
|
0.00244
|
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu)
|
rs2228660
|
0.00113
|
NM_001349.4(DARS1):c.822G>A (p.Ala274=)
|
rs112205661
|
0.00105
|
NM_001349.4(DARS1):c.1150-5T>G
|
rs199776135
|
0.00075
|
NM_001349.4(DARS1):c.321-19G>C
|
rs201046499
|
0.00073
|
NM_001349.4(DARS1):c.1391C>T (p.Pro464Leu)
|
rs148806569
|
0.00058
|
NM_001349.4(DARS1):c.403G>A (p.Val135Ile)
|
rs140573664
|
0.00048
|
NM_001349.4(DARS1):c.124+15G>T
|
rs181377990
|
0.00028
|
NM_001349.4(DARS1):c.1149+7C>A
|
rs373337130
|
0.00020
|
NM_001349.4(DARS1):c.1158A>G (p.Thr386=)
|
rs373077996
|
0.00018
|
NM_001349.4(DARS1):c.671T>C (p.Ile224Thr)
|
rs200961740
|
0.00018
|
NM_001349.4(DARS1):c.753G>A (p.Gln251=)
|
rs145963861
|
0.00009
|
NM_001349.4(DARS1):c.301A>T (p.Met101Leu)
|
rs138416697
|
0.00008
|
NM_001349.4(DARS1):c.1230+17T>C
|
rs369649828
|
0.00006
|
NM_001349.4(DARS1):c.125-18C>T
|
rs777497235
|
0.00006
|
NM_001349.4(DARS1):c.1432A>C (p.Met478Leu)
|
rs370805809
|
0.00006
|
NM_001349.4(DARS1):c.698A>G (p.Asn233Ser)
|
rs139872602
|
0.00006
|
NM_001349.4(DARS1):c.1023G>T (p.Glu341Asp)
|
rs200308019
|
0.00004
|
NM_001349.4(DARS1):c.157A>G (p.Ile53Val)
|
rs773931622
|
0.00004
|
NM_001349.4(DARS1):c.366A>G (p.Lys122=)
|
rs200029648
|
0.00004
|
NM_001349.4(DARS1):c.599C>G (p.Ser200Cys)
|
rs771698175
|
0.00004
|
NM_001349.4(DARS1):c.1076G>A (p.Gly359Glu)
|
rs374983029
|
0.00003
|
NM_001349.4(DARS1):c.1210A>G (p.Met404Val)
|
rs770613720
|
0.00002
|
NM_001349.4(DARS1):c.1104G>C (p.Leu368=)
|
rs769215712
|
0.00001
|
NM_001349.4(DARS1):c.1125G>A (p.Leu375=)
|
rs769425671
|
0.00001
|
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser)
|
rs377510027
|
0.00001
|
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys)
|
rs587776984
|
0.00001
|
NM_001349.4(DARS1):c.1492C>T (p.Arg498Ter)
|
rs763133905
|
0.00001
|
NM_001349.4(DARS1):c.466C>T (p.Leu156=)
|
rs571189613
|
0.00001
|
NM_001349.4(DARS1):c.570A>G (p.Ser190=)
|
rs765566198
|
0.00001
|
NM_001349.4(DARS1):c.858T>C (p.Phe286=)
|
rs369617769
|
0.00001
|
NC_000002.12:g.135985740G>T
|
rs16832394
|
|
NM_001349.4(DARS1):c.1000T>C (p.Cys334Arg)
|
|
|
NM_001349.4(DARS1):c.1003G>A (p.Glu335Lys)
|
|
|
NM_001349.4(DARS1):c.1024C>A (p.Pro342Thr)
|
rs1681004452
|
|
NM_001349.4(DARS1):c.1069G>A (p.Glu357Lys)
|
|
|
NM_001349.4(DARS1):c.1080C>T (p.Val360=)
|
|
|
NM_001349.4(DARS1):c.1083A>G (p.Glu361=)
|
rs760769694
|
|
NM_001349.4(DARS1):c.1102C>T (p.Leu368=)
|
|
|
NM_001349.4(DARS1):c.1107-13G>A
|
|
|
NM_001349.4(DARS1):c.1119A>G (p.Glu373=)
|
|
|
NM_001349.4(DARS1):c.1129G>C (p.Gly377Arg)
|
rs761230959
|
|
NM_001349.4(DARS1):c.112C>T (p.Gln38Ter)
|
|
|
NM_001349.4(DARS1):c.1149+15A>G
|
|
|
NM_001349.4(DARS1):c.1149+3A>C
|
|
|
NM_001349.4(DARS1):c.1149+7C>G
|
|
|
NM_001349.4(DARS1):c.1149+8T>G
|
rs1365229083
|
|
NM_001349.4(DARS1):c.1150-10_1150-8del
|
|
|
NM_001349.4(DARS1):c.1191T>C (p.Ala397=)
|
|
|
NM_001349.4(DARS1):c.1230+13G>A
|
|
|
NM_001349.4(DARS1):c.1230+1G>A
|
|
|
NM_001349.4(DARS1):c.1230+8A>G
|
|
|
NM_001349.4(DARS1):c.1249G>A (p.Asp417Asn)
|
|
|
NM_001349.4(DARS1):c.125-10G>A
|
|
|
NM_001349.4(DARS1):c.125-17G>A
|
|
|
NM_001349.4(DARS1):c.125-18C>G
|
|
|
NM_001349.4(DARS1):c.125-6T>C
|
|
|
NM_001349.4(DARS1):c.1261A>G (p.Arg421Gly)
|
rs1558775639
|
|
NM_001349.4(DARS1):c.127C>T (p.Arg43Ter)
|
|
|
NM_001349.4(DARS1):c.1285G>A (p.Ala429Thr)
|
|
|
NM_001349.4(DARS1):c.1323_1324del (p.Arg441fs)
|
rs768678855
|
|
NM_001349.4(DARS1):c.1342+12A>G
|
|
|
NM_001349.4(DARS1):c.1342+19T>C
|
|
|
NM_001349.4(DARS1):c.1342+9_1342+13del
|
|
|
NM_001349.4(DARS1):c.1343-7T>A
|
|
|
NM_001349.4(DARS1):c.1343-7T>C
|
rs199507494
|
|
NM_001349.4(DARS1):c.1374C>G (p.Ser458=)
|
|
|
NM_001349.4(DARS1):c.1380C>T (p.Arg460=)
|
|
|
NM_001349.4(DARS1):c.1414+19T>G
|
|
|
NM_001349.4(DARS1):c.1415-11del
|
|
|
NM_001349.4(DARS1):c.1426G>A (p.Val476Ile)
|
|
|
NM_001349.4(DARS1):c.1460G>A (p.Arg487His)
|
rs753793246
|
|
NM_001349.4(DARS1):c.1480C>T (p.Arg494Cys)
|
|
|
NM_001349.4(DARS1):c.1486C>G (p.Pro496Ala)
|
|
|
NM_001349.4(DARS1):c.159A>C (p.Ile53=)
|
|
|
NM_001349.4(DARS1):c.188G>A (p.Arg63His)
|
|
|
NM_001349.4(DARS1):c.200A>G (p.His67Arg)
|
|
|
NM_001349.4(DARS1):c.217+9G>C
|
|
|
NM_001349.4(DARS1):c.218-22_218-19del
|
rs2104834109
|
|
NM_001349.4(DARS1):c.258T>C (p.Asn86=)
|
|
|
NM_001349.4(DARS1):c.276G>A (p.Ala92=)
|
|
|
NM_001349.4(DARS1):c.276G>C (p.Ala92=)
|
rs746768443
|
|
NM_001349.4(DARS1):c.320+12A>G
|
|
|
NM_001349.4(DARS1):c.320+8A>G
|
|
|
NM_001349.4(DARS1):c.320A>G (p.Asn107Ser)
|
rs112319042
|
|
NM_001349.4(DARS1):c.357T>C (p.Val119=)
|
|
|
NM_001349.4(DARS1):c.380T>C (p.Ile127Thr)
|
|
|
NM_001349.4(DARS1):c.413A>G (p.His138Arg)
|
|
|
NM_001349.4(DARS1):c.423+15A>C
|
|
|
NM_001349.4(DARS1):c.423+17T>C
|
|
|
NM_001349.4(DARS1):c.424-14T>C
|
rs2104811058
|
|
NM_001349.4(DARS1):c.433A>G (p.Ile145Val)
|
|
|
NM_001349.4(DARS1):c.456G>T (p.Leu152=)
|
rs1575391182
|
|
NM_001349.4(DARS1):c.463C>T (p.Gln155Ter)
|
rs760637079
|
|
NM_001349.4(DARS1):c.484C>T (p.Pro162Ser)
|
rs149170955
|
|
NM_001349.4(DARS1):c.504+17T>C
|
|
|
NM_001349.4(DARS1):c.504+2T>G
|
|
|
NM_001349.4(DARS1):c.505-15_505-14insC
|
|
|
NM_001349.4(DARS1):c.505-18_505-14del
|
|
|
NM_001349.4(DARS1):c.505-18_505-6del
|
rs781360476
|
|
NM_001349.4(DARS1):c.505-3del
|
rs34744196
|
|
NM_001349.4(DARS1):c.505-4T>C
|
|
|
NM_001349.4(DARS1):c.505-4_505-3del
|
rs34744196
|
|
NM_001349.4(DARS1):c.507A>G (p.Glu169=)
|
|
|
NM_001349.4(DARS1):c.508G>A (p.Gly170Arg)
|
|
|
NM_001349.4(DARS1):c.520G>C (p.Val174Leu)
|
|
|
NM_001349.4(DARS1):c.564+16T>G
|
|
|
NM_001349.4(DARS1):c.565-13T>C
|
|
|
NM_001349.4(DARS1):c.565-6T>C
|
|
|
NM_001349.4(DARS1):c.583G>A (p.Val195Ile)
|
|
|
NM_001349.4(DARS1):c.603C>T (p.Gly201=)
|
|
|
NM_001349.4(DARS1):c.607T>C (p.Cys203Arg)
|
|
|
NM_001349.4(DARS1):c.622G>C (p.Glu208Gln)
|
|
|
NM_001349.4(DARS1):c.667A>G (p.Ile223Val)
|
|
|
NM_001349.4(DARS1):c.67-17A>G
|
|
|
NM_001349.4(DARS1):c.67-6_67-5del
|
rs766794434
|
|
NM_001349.4(DARS1):c.682A>G (p.Ser228Gly)
|
|
|
NM_001349.4(DARS1):c.728A>G (p.Asn243Ser)
|
|
|
NM_001349.4(DARS1):c.762G>A (p.Lys254=)
|
|
|
NM_001349.4(DARS1):c.767T>A (p.Met256Lys)
|
rs1215736567
|
|
NM_001349.4(DARS1):c.821C>G (p.Ala274Gly)
|
|
|
NM_001349.4(DARS1):c.832A>T (p.Asn278Tyr)
|
|
|
NM_001349.4(DARS1):c.84A>G (p.Arg28=)
|
|
|
NM_001349.4(DARS1):c.858T>G (p.Phe286Leu)
|
|
|
NM_001349.4(DARS1):c.85T>G (p.Tyr29Asp)
|
rs1201609764
|
|
NM_001349.4(DARS1):c.87T>C (p.Tyr29=)
|
|
|
NM_001349.4(DARS1):c.898C>G (p.His300Asp)
|
|
|
NM_001349.4(DARS1):c.900C>T (p.His300=)
|
|
|
NM_001349.4(DARS1):c.949C>T (p.Leu317Phe)
|
|
|
NM_001349.4(DARS1):c.959+17G>A
|
rs1426607525
|
|
NM_001349.4(DARS1):c.959+3A>T
|
|
|
NM_001349.4(DARS1):c.959+65dup
|
rs550446877
|
|
NM_001349.4(DARS1):c.960-15T>C
|
|
|
NM_001349.4(DARS1):c.985A>C (p.Asn329His)
|
|
|
NM_001349.4(DARS1):c.987T>C (p.Asn329=)
|
|
|