NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
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rs143319805
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0.00056
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NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
NC_000019.10:g.(?_45584613)_(45584774_?)del
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|
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NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
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rs863223953
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NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)
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rs1064794656
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NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)
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rs1555119216
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NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)
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rs1555229948
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NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)
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rs1592631789
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NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
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|
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NM_025136.4(OPA3):c.143-1G>A
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NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
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NM_025136.4(OPA3):c.143-2_143-1delinsCC
|
rs1969382362
|
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NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)
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rs80356524
|
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NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
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rs80356525
|
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NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
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rs121908375
|
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NM_130837.3(OPA1):c.1035+5G>A
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rs754576717
|
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NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)
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rs28939082
|
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NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
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|
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NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
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rs761460379
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NM_130837.3(OPA1):c.1150-1G>A
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rs879255510
|
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NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
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rs104893753
|
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NM_130837.3(OPA1):c.1377+1G>T
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rs2109043749
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NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)
|
rs879255511
|
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NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)
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rs387906899
|
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NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)
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rs387906900
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NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
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rs80356529
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NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)
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rs1577244261
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NM_130837.3(OPA1):c.1519del (p.Val507fs)
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rs879255512
|
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NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
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|
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NM_130837.3(OPA1):c.1734dup (p.Gln579fs)
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rs1560377736
|
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NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)
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rs398124298
|
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NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)
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rs879255592
|
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NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)
|
rs121908376
|
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NM_130837.3(OPA1):c.1935+1G>C
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rs1711518217
|
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NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)
|
rs772382178
|
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NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)
|
rs1577297114
|
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NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
|
|
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NM_130837.3(OPA1):c.2686del (p.Tyr896fs)
|
rs2109253558
|
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NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
|
|
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NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
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NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
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|
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NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
|
|
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NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
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NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)
|
rs387906901
|
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NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.2991del (p.Arg998fs)
|
rs80356531
|
|
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
|
|
|
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)
|
rs879255513
|
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NM_130837.3(OPA1):c.357del (p.Phe119fs)
|
rs1728905695
|
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NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
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|
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NM_130837.3(OPA1):c.556+1G>A
|
rs1577162868
|
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NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
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NM_130837.3(OPA1):c.70dup (p.Ile24fs)
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|
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NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
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NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)
|
rs1488795500
|
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NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
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NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
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NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
|
rs557939077
|
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NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
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|
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NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
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NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
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NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
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NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
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