NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)
|
rs201990981
|
0.00006
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_130837.3(OPA1):c.740G>A (p.Arg247His)
|
rs138350727
|
0.00002
|
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)
|
rs1445523438
|
0.00001
|
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)
|
rs552090021
|
0.00001
|
NC_012920.1(MT-CYB):m.15485C>T
|
|
|
NC_012920.1(MT-ND5):m.13763C>T
|
rs1603224344
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.8686T>C
|
rs1569484231
|
|
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
|
rs864321717
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)
|
rs267607164
|
|
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)
|
rs267607164
|
|
NM_006086.4(TUBB3):c.166+4A>C
|
|
|
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)
|
rs864321714
|
|
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)
|
rs864321715
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)
|
rs1131691895
|
|
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)
|
rs1344725531
|
|
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)
|
rs267607162
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)
|
rs267607163
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)
|
rs80356524
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)
|
rs1553876590
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1230+1G>T
|
rs80356528
|
|
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs)
|
rs863225275
|
|
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp)
|
rs863225276
|
|
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)
|
rs863225277
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2991del (p.Arg998fs)
|
rs80356531
|
|
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter)
|
rs863225274
|
|
m.10237T>C
|
rs1556423787
|
|
m.10663T>C
|
rs1556423844
|
|
m.11253T>C
|
rs200145866
|
|
m.11696G>A
|
rs200873900
|
|
m.12811T>C
|
rs199974018
|
|
m.12848C>T
|
rs267606899
|
|
m.13637A>G
|
rs200855215
|
|
m.13730G>A
|
rs387906425
|
|
m.14279G>A
|
rs869025187
|
|
m.14325T>C
|
rs397515505
|
|
m.14459G>A
|
rs199476105
|
|
m.14482C>A
|
rs199476108
|
|
m.14482C>G
|
rs199476108
|
|
m.14495A>G
|
rs199476106
|
|
m.14498T>C
|
rs869025186
|
|
m.14568C>T
|
rs397515506
|
|
m.14596A>T
|
rs387906424
|
|
m.14831G>A
|
rs199795644
|
|
m.3376G>A
|
rs397515612
|
|
m.3635G>A
|
rs397515507
|
|
m.3697G>A
|
rs199476122
|
|
m.3700G>A
|
rs397515508
|
|
m.3733G>A
|
rs199476125
|
|
m.4025C>T
|
rs397515509
|
|
m.4160T>C
|
rs199476119
|
|
m.4171C>A
|
rs28616230
|
|
m.4640C>A
|
rs387906426
|
|
m.5244G>A
|
rs199476115
|
|
m.9101T>C
|
rs199476134
|
|
m.9804G>A
|
rs200613617
|
|