NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)
|
rs5977625
|
0.06625
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)
|
rs192346335
|
0.00002
|
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)
|
rs267606686
|
0.00001
|
NC_012920.1(MT-ATP6):m.8783G>A
|
rs1603221804
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-ND5):m.12425del
|
rs1603223730
|
|
NC_012920.1(MT-ND5):m.13063G>A
|
rs1603224017
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.13051G>A
|
rs1131692063
|
|
NC_012920.1:m.13094T>C
|
rs1603224029
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.8851T>C
|
rs199476136
|
|
NC_012920.1:m.8969G>A
|
rs794726857
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9176T>C
|
rs199476135
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NC_012920.1:m.9205_9206del
|
rs199476137
|
|
NC_012920.1:m.9237G>A
|
rs1057516064
|
|
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)
|
rs1799747454
|
|
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)
|
rs1064794656
|
|
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp)
|
rs749668781
|
|
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)
|
rs778363575
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)
|
rs1313421147
|
|
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)
|
rs1577243012
|
|
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)
|
rs1577244261
|
|
NM_130837.3(OPA1):c.1511del (p.Thr504fs)
|
rs794729196
|
|
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)
|
rs1577297114
|
|
NM_130837.3(OPA1):c.2983+6T>A
|
rs1577335678
|
|
m.10663T>C
|
rs1556423844
|
|
m.12706T>C
|
rs267606893
|
|
m.14459G>A
|
rs199476105
|
|
m.14487T>C
|
rs199476109
|
|
m.14568C>T
|
rs397515506
|
|
m.15150G>A
|
rs207460000
|
|
m.15579A>G
|
rs207460002
|
|
m.3635G>A
|
rs397515507
|
|
m.3697G>A
|
rs199476122
|
|
m.3733G>A
|
rs199476125
|
|
m.3946G>A
|
rs199476123
|
|
m.4160T>C
|
rs199476119
|
|
m.4171C>A
|
rs28616230
|
|