NM_018122.5(DARS2):c.1675-112T>G
|
rs2295366
|
0.32363
|
NM_018122.5(DARS2):c.228-20T>C
|
rs55878143
|
0.21856
|
NM_018122.5(DARS2):c.127+303C>T
|
rs74415834
|
0.21716
|
NM_018122.5(DARS2):c.1345-266A>G
|
rs2281486
|
0.20872
|
NM_018122.5(DARS2):c.771-171C>T
|
rs3791021
|
0.19195
|
NM_018122.5(DARS2):c.228-245T>C
|
rs7552840
|
0.09798
|
NM_018122.5(DARS2):c.1128+128A>G
|
rs6675762
|
0.09765
|
NM_018122.5(DARS2):c.*210T>C
|
rs9425758
|
0.09751
|
NM_018122.5(DARS2):c.294+215A>G
|
rs75302147
|
0.07837
|
NM_018122.5(DARS2):c.227+245A>G
|
rs2068871
|
0.07823
|
NM_018122.5(DARS2):c.1129-109T>C
|
rs77124001
|
0.07819
|
NM_018122.5(DARS2):c.396+312C>T
|
rs12079240
|
0.06786
|
NM_018122.5(DARS2):c.1750+19T>G
|
rs57068378
|
0.06626
|
NM_018122.5(DARS2):c.1129-143C>T
|
rs12084213
|
0.06251
|
NM_018122.5(DARS2):c.1675-137A>G
|
rs12078471
|
0.06229
|
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg)
|
rs35515638
|
0.02693
|
NM_018122.5(DARS2):c.663+8T>C
|
rs73037062
|
0.02691
|
NM_018122.5(DARS2):c.227+29C>T
|
rs6425260
|
0.02689
|
NM_018122.5(DARS2):c.227+28G>T
|
rs6425259
|
0.02687
|
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)
|
rs141298312
|
0.02511
|
NM_018122.5(DARS2):c.1750+40T>C
|
rs59693622
|
0.02203
|
NM_018122.5(DARS2):c.397-6T>G
|
rs115051769
|
0.01810
|
NM_018122.5(DARS2):c.1344+294T>A
|
rs80232493
|
0.01779
|
NM_018122.5(DARS2):c.1128+59C>T
|
rs143616878
|
0.00970
|
NM_018122.5(DARS2):c.1129-263del
|
rs199567721
|
0.00944
|
NM_018122.5(DARS2):c.841-40T>C
|
rs146597861
|
0.00838
|
NM_018122.5(DARS2):c.396+57G>C
|
rs146039643
|
0.00758
|
NM_018122.5(DARS2):c.493-3T>C
|
rs140326200
|
0.00699
|
NM_018122.5(DARS2):c.127+172G>T
|
rs34756615
|
0.00571
|
NM_018122.5(DARS2):c.228-21_228-20insC
|
rs367543010
|
0.00491
|
NM_018122.5(DARS2):c.128-21T>C
|
rs573719917
|
0.00480
|
NM_018122.5(DARS2):c.1192-308G>A
|
rs144549208
|
0.00437
|
NM_018122.5(DARS2):c.1674+127C>G
|
rs116552130
|
0.00414
|
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)
|
rs149660059
|
0.00412
|
NM_018122.5(DARS2):c.1021-48A>G
|
rs80063322
|
0.00381
|
NM_018122.5(DARS2):c.1192-28del
|
rs60221533
|
0.00376
|
NM_018122.5(DARS2):c.128-4A>T
|
rs769597479
|
0.00300
|
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)
|
rs114714497
|
0.00099
|
NM_018122.5(DARS2):c.128-5T>A
|
rs200078808
|
0.00084
|
NM_018122.5(DARS2):c.397-42C>T
|
rs76910352
|
0.00047
|
NM_018122.5(DARS2):c.580G>A (p.Val194Ile)
|
rs186723843
|
0.00040
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_018122.5(DARS2):c.127+27A>G
|
rs201081133
|
0.00031
|
NM_018122.5(DARS2):c.1758C>T (p.Asp586=)
|
rs371048800
|
0.00031
|
NM_018122.5(DARS2):c.1345-16C>T
|
rs200214952
|
0.00023
|
NM_018122.5(DARS2):c.228-19C>T
|
rs56302419
|
0.00012
|
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)
|
rs121918208
|
0.00011
|
NM_018122.5(DARS2):c.91A>G (p.Arg31Gly)
|
rs140881109
|
0.00011
|
NM_018122.5(DARS2):c.396+2T>G
|
rs759123043
|
0.00006
|
NM_018122.5(DARS2):c.1497G>A (p.Ser499=)
|
rs201884983
|
0.00005
|
NM_018122.5(DARS2):c.1660G>A (p.Ala554Thr)
|
rs147603024
|
0.00005
|
NM_018122.5(DARS2):c.536G>A (p.Arg179His)
|
rs121918210
|
0.00004
|
NM_018122.5(DARS2):c.1800T>C (p.Asp600=)
|
rs1457626345
|
0.00003
|
NM_018122.5(DARS2):c.374G>A (p.Arg125His)
|
rs774630991
|
0.00003
|
NM_018122.5(DARS2):c.469T>A (p.Phe157Ile)
|
rs1366700431
|
0.00003
|
NM_018122.5(DARS2):c.508C>T (p.Arg170Trp)
|
rs776515724
|
0.00002
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
NM_018122.5(DARS2):c.1564-13G>A
|
rs747157402
|
0.00001
|
NM_018122.5(DARS2):c.1567C>T (p.Arg523Cys)
|
rs771329506
|
0.00001
|
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)
|
rs200670286
|
0.00001
|
NM_018122.5(DARS2):c.303C>T (p.Ala101=)
|
rs781148189
|
0.00001
|
NM_018122.5(DARS2):c.473A>T (p.Glu158Val)
|
rs1395997099
|
0.00001
|
NM_018122.5(DARS2):c.509G>A (p.Arg170Gln)
|
rs759658461
|
0.00001
|
NM_018122.5(DARS2):c.567G>A (p.Leu189=)
|
rs547708828
|
0.00001
|
NM_018122.5(DARS2):c.668C>G (p.Ala223Gly)
|
rs1332636687
|
0.00001
|
NM_018122.5(DARS2):c.742C>A (p.Gln248Lys)
|
rs772489337
|
0.00001
|
NM_018122.5(DARS2):c.785C>T (p.Ala262Val)
|
rs1281179187
|
0.00001
|
NM_018122.5(DARS2):c.939T>G (p.Val313=)
|
rs777837584
|
0.00001
|
NM_018122.5(DARS2):c.1094del (p.Gly365fs)
|
rs1553202681
|
|
NM_018122.5(DARS2):c.1129-308_1129-299del
|
rs147239166
|
|
NM_018122.5(DARS2):c.1192-29dup
|
rs199872112
|
|
NM_018122.5(DARS2):c.127+88dup
|
rs558233437
|
|
NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTAT
|
rs1167728196
|
|
NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTATTAT
|
rs1167728196
|
|
NM_018122.5(DARS2):c.127+94ATT[10]
|
rs55949406
|
|
NM_018122.5(DARS2):c.127+94ATT[13]
|
rs55949406
|
|
NM_018122.5(DARS2):c.127+94ATT[14]
|
rs55949406
|
|
NM_018122.5(DARS2):c.127+94ATT[15]
|
rs55949406
|
|
NM_018122.5(DARS2):c.127+94ATT[16]
|
rs55949406
|
|
NM_018122.5(DARS2):c.127+94ATT[9]
|
rs55949406
|
|
NM_018122.5(DARS2):c.1272_1273delinsC (p.Glu425fs)
|
rs1553204327
|
|
NM_018122.5(DARS2):c.128-5dup
|
rs746151025
|
|
NM_018122.5(DARS2):c.128-6_128-5dup
|
rs746151025
|
|
NM_018122.5(DARS2):c.128-7_128-5dup
|
rs746151025
|
|
NM_018122.5(DARS2):c.1344+141_1344+142dup
|
rs66665709
|
|
NM_018122.5(DARS2):c.1344+142del
|
rs66665709
|
|
NM_018122.5(DARS2):c.1344+142dup
|
rs66665709
|
|
NM_018122.5(DARS2):c.1355T>G (p.Leu452Ter)
|
rs1057524364
|
|
NM_018122.5(DARS2):c.1452C>G (p.Phe484Leu)
|
rs181672516
|
|
NM_018122.5(DARS2):c.1501C>T (p.His501Tyr)
|
rs1064793097
|
|
NM_018122.5(DARS2):c.1504C>G (p.His502Asp)
|
rs1553204841
|
|
NM_018122.5(DARS2):c.1744G>A (p.Ala582Thr)
|
|
|
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)
|
rs972404343
|
|
NM_018122.5(DARS2):c.1768T>A (p.Cys590Ser)
|
|
|
NM_018122.5(DARS2):c.1768T>C (p.Cys590Arg)
|
rs761821824
|
|
NM_018122.5(DARS2):c.228-10C>G
|
rs201817953
|
|
NM_018122.5(DARS2):c.228-10del
|
rs374122386
|
|
NM_018122.5(DARS2):c.228-10dup
|
rs374122386
|
|
NM_018122.5(DARS2):c.228-12C>A
|
rs9425753
|
|
NM_018122.5(DARS2):c.228-12C>G
|
rs9425753
|
|
NM_018122.5(DARS2):c.228-14C>G
|
rs376561321
|
|
NM_018122.5(DARS2):c.228-15C>A
|
rs200392167
|
|
NM_018122.5(DARS2):c.228-15C>T
|
rs200392167
|
|
NM_018122.5(DARS2):c.228-16C>A
|
rs778731200
|
|
NM_018122.5(DARS2):c.228-20del
|
rs143246542
|
|
NM_018122.5(DARS2):c.228-20delinsCC
|
rs1553201265
|
|
NM_018122.5(DARS2):c.228-20dup
|
rs143246542
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsCC
|
|
|
NM_018122.5(DARS2):c.259G>T (p.Asp87Tyr)
|
|
|
NM_018122.5(DARS2):c.382G>C (p.Gly128Arg)
|
|
|
NM_018122.5(DARS2):c.397-2A>G
|
|
|
NM_018122.5(DARS2):c.493-306C>T
|
rs61625780
|
|
NM_018122.5(DARS2):c.493-77del
|
rs3835254
|
|
NM_018122.5(DARS2):c.503C>T (p.Ala168Val)
|
rs760503098
|
|
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe)
|
rs1064794825
|
|
NM_018122.5(DARS2):c.527T>C (p.Leu176Ser)
|
rs1085307970
|
|
NM_018122.5(DARS2):c.662G>A (p.Gly221Glu)
|
rs2102642217
|
|
NM_018122.5(DARS2):c.663+225_663+226insC
|
rs60713728
|
|
NM_018122.5(DARS2):c.663+226T>A
|
rs9425754
|
|
NM_018122.5(DARS2):c.663+226T>C
|
rs9425754
|
|
NM_018122.5(DARS2):c.663+263G>T
|
rs55884829
|
|
NM_018122.5(DARS2):c.663+279del
|
rs558344998
|
|
NM_018122.5(DARS2):c.663+279dup
|
rs558344998
|
|
NM_018122.5(DARS2):c.664-17_664-14del
|
rs563212168
|
|
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)
|
rs772489337
|
|
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro)
|
rs778283912
|
|
NM_018122.5(DARS2):c.770+242del
|
rs372381381
|
|
NM_018122.5(DARS2):c.770+242dup
|
rs372381381
|
|
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter)
|
rs121918206
|
|
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
|
|
|
NM_018122.5(DARS2):c.79G>A (p.Gly27Ser)
|
|
|
NM_018122.5(DARS2):c.829G>A (p.Glu277Lys)
|
rs1396541001
|
|
NM_018122.5(DARS2):c.840+165del
|
rs111398321
|
|
NM_018122.5(DARS2):c.948del (p.Pro317fs)
|
rs1085307776
|
|