NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_130837.3(OPA1):c.1150-2A>G
|
rs886041317
|
0.00001
|
NM_130837.3(OPA1):c.1555T>C (p.Phe519Leu)
|
rs757786063
|
0.00001
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
NM_130837.3(OPA1):c.2178+1G>A
|
rs1560392160
|
0.00001
|
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)
|
rs727504058
|
0.00001
|
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
|
|
|
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
|
|
|
NC_000003.11:g.(?_193311167)_(193311218_?)del
|
|
|
NC_000003.11:g.(?_193332492)_(193336745_?)del
|
|
|
NC_000003.11:g.(?_193332492)_(193409916_?)del
|
|
|
NC_000003.11:g.(?_193336638)_(193344011_?)del
|
|
|
NC_000003.11:g.(?_193354964)_(193355090_?)del
|
|
|
NC_000003.11:g.(?_193360534)_(193361914_?)del
|
|
|
NC_000003.11:g.(?_193380591)_(193385089_?)del
|
|
|
NC_000003.11:g.(?_193382649)_(193384198_?)del
|
|
|
NC_000003.11:g.(?_193382649)_(193385089_?)del
|
|
|
NC_000003.11:g.(?_193409832)_(193409916_?)del
|
|
|
NC_000003.12:g.193645729del
|
rs2109058653
|
|
NM_015560.2(OPA1):c.985del
|
rs2109039412
|
|
NM_130837.3(OPA1):c.1015dup (p.Thr339fs)
|
|
|
NM_130837.3(OPA1):c.1031_1035del (p.Pro344fs)
|
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+1G>A
|
rs727504059
|
|
NM_130837.3(OPA1):c.1035+1G>T
|
|
|
NM_130837.3(OPA1):c.1035+2del
|
rs1577226484
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.1038TGT[1] (p.Val349del)
|
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)
|
rs28939082
|
|
NM_130837.3(OPA1):c.1067del (p.Lys356fs)
|
|
|
NM_130837.3(OPA1):c.1089del (p.Ile363fs)
|
|
|
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
|
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1149G>A (p.Lys383=)
|
rs1560365123
|
|
NM_130837.3(OPA1):c.1150-1G>A
|
rs879255510
|
|
NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
|
rs1733978179
|
|
NM_130837.3(OPA1):c.1178dup (p.Ala394fs)
|
|
|
NM_130837.3(OPA1):c.1183del (p.Leu395fs)
|
|
|
NM_130837.3(OPA1):c.1214_1215dup (p.Thr406fs)
|
rs2109039751
|
|
NM_130837.3(OPA1):c.1230+1G>A
|
rs80356528
|
|
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
|
rs104893753
|
|
NM_130837.3(OPA1):c.1305+1G>A
|
rs745927258
|
|
NM_130837.3(OPA1):c.1305+1G>C
|
|
|
NM_130837.3(OPA1):c.1305+1G>T
|
|
|
NM_130837.3(OPA1):c.1352T>A (p.Leu451His)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1359del (p.Leu454fs)
|
rs2109043623
|
|
NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser)
|
rs1553877864
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)
|
|
|
NM_130837.3(OPA1):c.1369G>A (p.Val457Met)
|
rs879255594
|
|
NM_130837.3(OPA1):c.1377+1G>A
|
|
|
NM_130837.3(OPA1):c.1377+1G>T
|
rs2109043749
|
|
NM_130837.3(OPA1):c.1377+4del
|
rs2109043753
|
|
NM_130837.3(OPA1):c.1377+5G>T
|
rs863224136
|
|
NM_130837.3(OPA1):c.1377_1377+4del
|
rs1577242473
|
|
NM_130837.3(OPA1):c.1382_1383del (p.Val461fs)
|
rs2109044278
|
|
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)
|
rs1553877912
|
|
NM_130837.3(OPA1):c.1406_1407del (p.Thr469fs)
|
|
|
NM_130837.3(OPA1):c.1408A>G (p.Lys470Glu)
|
rs2109044398
|
|
NM_130837.3(OPA1):c.1443dup (p.Gln482fs)
|
rs2109044547
|
|
NM_130837.3(OPA1):c.1444C>T (p.Gln482Ter)
|
|
|
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)
|
rs879255511
|
|
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)
|
rs387906899
|
|
NM_130837.3(OPA1):c.1461_1465dup (p.Leu489fs)
|
|
|
NM_130837.3(OPA1):c.1469_1470del (p.Cys490fs)
|
|
|
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)
|
rs863225277
|
|
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val)
|
rs1734162973
|
|
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)
|
rs387906900
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro)
|
rs80356529
|
|
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)
|
rs1577244261
|
|
NM_130837.3(OPA1):c.1517del (p.Leu506fs)
|
rs398124297
|
|
NM_130837.3(OPA1):c.1519del (p.Val507fs)
|
rs879255512
|
|
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)
|
rs1560327427
|
|
NM_130837.3(OPA1):c.1551del (p.Ile518fs)
|
|
|
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
|
|
|
NM_130837.3(OPA1):c.1575_1608+4del
|
rs1734176382
|
|
NM_130837.3(OPA1):c.1581del (p.Glu528fs)
|
rs2109047342
|
|
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
|
|
|
NM_130837.3(OPA1):c.1608+1G>A
|
|
|
NM_130837.3(OPA1):c.1612C>T (p.Gln538Ter)
|
rs2109057450
|
|
NM_130837.3(OPA1):c.1681+1G>C
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+1G>T
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs)
|
rs1553878647
|
|
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter)
|
rs748215343
|
|
NM_130837.3(OPA1):c.1734del (p.Gln579fs)
|
rs1560377736
|
|
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)
|
rs1560377736
|
|
NM_130837.3(OPA1):c.1754+2T>G
|
|
|
NM_130837.3(OPA1):c.178del (p.Gln60fs)
|
|
|
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
|
rs1711514692
|
|
NM_130837.3(OPA1):c.1909_1912del (p.Tyr637fs)
|
|
|
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)
|
rs121908376
|
|
NM_130837.3(OPA1):c.1935+1G>C
|
rs1711518217
|
|
NM_130837.3(OPA1):c.1948dup (p.Glu650fs)
|
rs2109083754
|
|
NM_130837.3(OPA1):c.1979_1980del (p.Val660fs)
|
rs2109083888
|
|
NM_130837.3(OPA1):c.198_201del (p.Asn67fs)
|
|
|
NM_130837.3(OPA1):c.2012+1G>C
|
rs863224134
|
|
NM_130837.3(OPA1):c.2012+1G>T
|
rs863224134
|
|
NM_130837.3(OPA1):c.2035_2036del (p.Leu679fs)
|
|
|
NM_130837.3(OPA1):c.2046_2047del (p.Arg682fs)
|
|
|
NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
|
rs1713427542
|
|
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
|
|
|
NM_130837.3(OPA1):c.2155C>T (p.Gln719Ter)
|
rs2109139510
|
|
NM_130837.3(OPA1):c.2179-1G>A
|
rs2109163061
|
|
NM_130837.3(OPA1):c.2179-1G>C
|
|
|
NM_130837.3(OPA1):c.2197del (p.Gln733fs)
|
rs2109163111
|
|
NM_130837.3(OPA1):c.2213del (p.Arg738fs)
|
rs2109163266
|
|
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs)
|
rs794727345
|
|
NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)
|
|
|
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter)
|
rs2109163970
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)
|
rs772382178
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)
|
rs1577297114
|
|
NM_130837.3(OPA1):c.232del (p.Ile78fs)
|
|
|
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)
|
rs1553784985
|
|
NM_130837.3(OPA1):c.2406del (p.Phe802fs)
|
rs1553785025
|
|
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter)
|
rs398124301
|
|
NM_130837.3(OPA1):c.2440+1G>A
|
|
|
NM_130837.3(OPA1):c.2478G>A (p.Trp826Ter)
|
|
|
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)
|
rs1553785338
|
|
NM_130837.3(OPA1):c.2512dup (p.Gln838fs)
|
rs1714725151
|
|
NM_130837.3(OPA1):c.2520+1G>A
|
rs1553785362
|
|
NM_130837.3(OPA1):c.2538del (p.Lys847fs)
|
|
|
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs)
|
rs1560041195
|
|
NM_130837.3(OPA1):c.256del (p.Arg86fs)
|
rs1553871618
|
|
NM_130837.3(OPA1):c.2572G>T (p.Glu858Ter)
|
|
|
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
|
|
|
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
|
|
|
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)
|
rs879255593
|
|
NM_130837.3(OPA1):c.2661+1G>A
|
rs794727392
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2661+4_2661+5delinsGTAAC
|
rs863224143
|
|
NM_130837.3(OPA1):c.2664_2665delinsAT (p.Lys889Ter)
|
|
|
NM_130837.3(OPA1):c.2685_2686del (p.Val895_Tyr896insTer)
|
|
|
NM_130837.3(OPA1):c.2686del (p.Tyr896fs)
|
rs2109253558
|
|
NM_130837.3(OPA1):c.2702dup (p.Leu901fs)
|
rs2109253692
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
|
|
|
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter)
|
rs1577327315
|
|
NM_130837.3(OPA1):c.2755C>T (p.Gln919Ter)
|
|
|
NM_130837.3(OPA1):c.2779-2A>G
|
|
|
NM_130837.3(OPA1):c.2779-2A>T
|
rs2109267841
|
|
NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
|
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
|
|
|
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter)
|
rs2109268057
|
|
NM_130837.3(OPA1):c.2816dup (p.Arg940fs)
|
rs886043317
|
|
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
|
|
|
NM_130837.3(OPA1):c.2861del (p.Thr954fs)
|
|
|
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
|
|
|
NM_130837.3(OPA1):c.2873-2A>G
|
rs886041438
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2885_2983+8del
|
|
|
NM_130837.3(OPA1):c.2892_2896del (p.Asn964fs)
|
rs1553787992
|
|
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)
|
rs387906901
|
|
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer)
|
rs1553788026
|
|
NM_130837.3(OPA1):c.292_301del (p.Leu98fs)
|
rs794727289
|
|
NM_130837.3(OPA1):c.2935A>T (p.Lys979Ter)
|
|
|
NM_130837.3(OPA1):c.2940del (p.Lys981fs)
|
rs2109277786
|
|
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs)
|
rs1716781226
|
|
NM_130837.3(OPA1):c.2971dup (p.Ala991fs)
|
|
|
NM_130837.3(OPA1):c.2983+5G>A
|
|
|
NM_130837.3(OPA1):c.2984-1_2986del
|
rs2109460398
|
|
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)
|
rs886043136
|
|
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.3003dup (p.Glu1002fs)
|
rs2109460493
|
|
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)
|
rs879255513
|
|
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter)
|
rs1553797598
|
|
NM_130837.3(OPA1):c.320C>A (p.Ser107Ter)
|
|
|
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
|
|
|
NM_130837.3(OPA1):c.357del (p.Phe119fs)
|
rs1728905695
|
|
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
|
|
|
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)
|
rs1724946838
|
|
NM_130837.3(OPA1):c.401G>A (p.Trp134Ter)
|
rs2108869161
|
|
NM_130837.3(OPA1):c.448+1G>A
|
|
|
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
|
|
|
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)
|
|
|
NM_130837.3(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer)
|
rs863224141
|
|
NM_130837.3(OPA1):c.556+1G>A
|
rs1577162868
|
|
NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs)
|
rs2108889206
|
|
NM_130837.3(OPA1):c.678+2T>G
|
rs1553872742
|
|
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
|
|
|
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
|
|
|
NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)
|
rs863224142
|
|
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter)
|
rs1732086609
|
|
NM_130837.3(OPA1):c.832del (p.Leu278fs)
|
rs2108979504
|
|
NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter)
|
rs863224128
|
|
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)
|
rs761743852
|
|
NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)
|
|
|
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)
|
rs1488795500
|
|
NM_130837.3(OPA1):c.937A>T (p.Arg313Ter)
|
rs2109002680
|
|
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)
|
rs1728761079
|
|
NM_130837.3(OPA1):c.949-1G>A
|
|
|
NM_130837.3(OPA1):c.949-1G>C
|
rs1733081846
|
|
NM_130837.3(OPA1):c.949-2A>T
|
|
|
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
|
NM_130837.3(OPA1):c.992_993del (p.Leu330_Ser331insTer)
|
|
|