NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
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NM_130837.3(OPA1):c.1150-2A>G
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rs886041317
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0.00001
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NM_130837.3(OPA1):c.2178+1G>A
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rs1560392160
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0.00001
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NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)
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rs727504058
|
0.00001
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NC_000003.11:g.(?_193311167)_(193311218_?)del
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NC_000003.11:g.(?_193332492)_(193336745_?)del
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NC_000003.11:g.(?_193332492)_(193409916_?)del
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NC_000003.11:g.(?_193336638)_(193344011_?)del
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NC_000003.11:g.(?_193354964)_(193355090_?)del
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NC_000003.11:g.(?_193360534)_(193361914_?)del
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NC_000003.11:g.(?_193380591)_(193385089_?)del
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NC_000003.11:g.(?_193382649)_(193384198_?)del
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NC_000003.11:g.(?_193382649)_(193385089_?)del
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NC_000003.11:g.(?_193409832)_(193409916_?)del
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NC_000003.12:g.193645729del
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rs2109058653
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NM_130837.3(OPA1):c.1015dup (p.Thr339fs)
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NM_130837.3(OPA1):c.1031_1035del (p.Pro344fs)
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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+1G>T
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NM_130837.3(OPA1):c.1038TGT[1] (p.Val349del)
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NM_130837.3(OPA1):c.1067del (p.Lys356fs)
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NM_130837.3(OPA1):c.1089del (p.Ile363fs)
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NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
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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.1133C>T (p.Thr378Ile)
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NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
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rs398124303
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NM_130837.3(OPA1):c.1149G>A (p.Lys383=)
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rs1560365123
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NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
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rs1733978179
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NM_130837.3(OPA1):c.1178dup (p.Ala394fs)
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NM_130837.3(OPA1):c.1183del (p.Leu395fs)
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NM_130837.3(OPA1):c.1214_1215dup (p.Thr406fs)
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rs2109039751
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NM_130837.3(OPA1):c.1230+1G>A
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rs80356528
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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.1305+1G>C
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NM_130837.3(OPA1):c.1305+1G>T
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NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg)
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rs727504060
|
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NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser)
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rs1553877864
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NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
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rs794727069
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NM_130837.3(OPA1):c.1377+1G>A
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NM_130837.3(OPA1):c.1377_1377+4del
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rs1577242473
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NM_130837.3(OPA1):c.1382_1383del (p.Val461fs)
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rs2109044278
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NM_130837.3(OPA1):c.1389dup (p.Gly464fs)
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rs1553877912
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NM_130837.3(OPA1):c.1406_1407del (p.Thr469fs)
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NM_130837.3(OPA1):c.1408A>G (p.Lys470Glu)
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rs2109044398
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NM_130837.3(OPA1):c.1443dup (p.Gln482fs)
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rs2109044547
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NM_130837.3(OPA1):c.1444C>T (p.Gln482Ter)
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NM_130837.3(OPA1):c.1461_1465dup (p.Leu489fs)
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NM_130837.3(OPA1):c.1469_1470del (p.Cys490fs)
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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.1551del (p.Ile518fs)
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NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
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NM_130837.3(OPA1):c.1581del (p.Glu528fs)
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rs2109047342
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NM_130837.3(OPA1):c.1608+1G>A
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NM_130837.3(OPA1):c.1612C>T (p.Gln538Ter)
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rs2109057450
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NM_130837.3(OPA1):c.178del (p.Gln60fs)
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NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
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rs1711514692
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NM_130837.3(OPA1):c.1909_1912del (p.Tyr637fs)
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NM_130837.3(OPA1):c.1979_1980del (p.Val660fs)
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rs2109083888
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NM_130837.3(OPA1):c.198_201del (p.Asn67fs)
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NM_130837.3(OPA1):c.2012+1G>T
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rs863224134
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NM_130837.3(OPA1):c.2035_2036del (p.Leu679fs)
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NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
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rs1713427542
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NM_130837.3(OPA1):c.2155C>T (p.Gln719Ter)
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rs2109139510
|
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NM_130837.3(OPA1):c.2179-1G>A
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rs2109163061
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NM_130837.3(OPA1):c.2179-1G>C
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NM_130837.3(OPA1):c.2197del (p.Gln733fs)
|
rs2109163111
|
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NM_130837.3(OPA1):c.2213del (p.Arg738fs)
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rs2109163266
|
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NM_130837.3(OPA1):c.2287del (p.Ser763fs)
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rs1219753329
|
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NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
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rs863224906
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NM_130837.3(OPA1):c.232del (p.Ile78fs)
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|
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NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)
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rs1553784985
|
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NM_130837.3(OPA1):c.2478G>A (p.Trp826Ter)
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|
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NM_130837.3(OPA1):c.2538del (p.Lys847fs)
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NM_130837.3(OPA1):c.2572G>T (p.Glu858Ter)
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NM_130837.3(OPA1):c.2664_2665delinsAT (p.Lys889Ter)
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NM_130837.3(OPA1):c.2685_2686del (p.Val895_Tyr896insTer)
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NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
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rs794727405
|
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NM_130837.3(OPA1):c.2755C>T (p.Gln919Ter)
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NM_130837.3(OPA1):c.2779-2A>T
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rs2109267841
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NM_130837.3(OPA1):c.2861del (p.Thr954fs)
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NM_130837.3(OPA1):c.2873_2876del
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rs80356530
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NM_130837.3(OPA1):c.2885_2983+8del
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NM_130837.3(OPA1):c.2935A>T (p.Lys979Ter)
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NM_130837.3(OPA1):c.2940del (p.Lys981fs)
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rs2109277786
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NM_130837.3(OPA1):c.2971dup (p.Ala991fs)
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NM_130837.3(OPA1):c.2983+5G>A
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NM_130837.3(OPA1):c.2984-1_2986del
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rs2109460398
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NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)
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rs886043136
|
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NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
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rs879255560
|
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NM_130837.3(OPA1):c.3003dup (p.Glu1002fs)
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rs2109460493
|
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NM_130837.3(OPA1):c.320C>A (p.Ser107Ter)
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NM_130837.3(OPA1):c.336del (p.Tyr113fs)
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NM_130837.3(OPA1):c.3G>A (p.Met1Ile)
|
rs1724946838
|
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NM_130837.3(OPA1):c.401G>A (p.Trp134Ter)
|
rs2108869161
|
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NM_130837.3(OPA1):c.610+364G>A
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rs983041061
|
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NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
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NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)
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NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
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rs794727804
|
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NM_130837.3(OPA1):c.832del (p.Leu278fs)
|
rs2108979504
|
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NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter)
|
rs863224128
|
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NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)
|
rs761743852
|
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NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)
|
rs1488795500
|
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NM_130837.3(OPA1):c.937A>T (p.Arg313Ter)
|
rs2109002680
|
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NM_130837.3(OPA1):c.949-1G>A
|
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NM_130837.3(OPA1):c.949-2A>T
|
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NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
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NM_130837.3(OPA1):c.992_993del (p.Leu330_Ser331insTer)
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