NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
|
rs139861334
|
0.00050
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)
|
rs368488165
|
0.00009
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln)
|
rs147077380
|
0.00006
|
NM_130837.3(OPA1):c.2436G>A (p.Lys812=)
|
rs765782153
|
0.00005
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_130837.3(OPA1):c.87A>G (p.Pro29=)
|
rs765574821
|
0.00004
|
NM_130837.3(OPA1):c.326T>C (p.Val109Ala)
|
rs77173739
|
0.00001
|
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
|
|
|
NM_130837.3(OPA1):c.1035+1G>A
|
rs727504059
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)
|
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
|
rs1733978179
|
|
NM_130837.3(OPA1):c.1230+1G>A
|
rs80356528
|
|
NM_130837.3(OPA1):c.1230+5G>A
|
rs1057519244
|
|
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
|
rs104893753
|
|
NM_130837.3(OPA1):c.1359C>G (p.Asp453Glu)
|
|
|
NM_130837.3(OPA1):c.1377+4del
|
rs2109043753
|
|
NM_130837.3(OPA1):c.1465C>T (p.Leu489=)
|
rs1577243073
|
|
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val)
|
rs1734162973
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)
|
rs1560327427
|
|
NM_130837.3(OPA1):c.1575_1608+4del
|
rs1734176382
|
|
NM_130837.3(OPA1):c.1681+1G>T
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1725A>C (p.Glu575Asp)
|
rs1424763009
|
|
NM_130837.3(OPA1):c.1754+22T>G
|
|
|
NM_130837.3(OPA1):c.1871C>A (p.Ala624Glu)
|
rs1553879362
|
|
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
|
rs1711514692
|
|
NM_130837.3(OPA1):c.1935+1G>C
|
rs1711518217
|
|
NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
|
rs1713427542
|
|
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter)
|
rs2109163970
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.2440+1G>A
|
|
|
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)
|
rs1553785338
|
|
NM_130837.3(OPA1):c.2519A>G (p.Gln840Arg)
|
rs1064797302
|
|
NM_130837.3(OPA1):c.2521-8T>G
|
rs1064797303
|
|
NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)
|
rs1553786499
|
|
NM_130837.3(OPA1):c.2702dup (p.Leu901fs)
|
rs2109253692
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
|
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser)
|
rs767232015
|
|
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter)
|
rs2109268057
|
|
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
|
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2879G>A (p.Arg960Gln)
|
rs763280368
|
|
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer)
|
rs1553788026
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.429T>C (p.Ile143=)
|
rs761336580
|
|
NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130837.3(OPA1):c.611-8_611-3del
|
rs1553872701
|
|
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs)
|
rs2108889206
|
|
NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter)
|
rs1732086609
|
|
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter)
|
rs1319065221
|
|
NM_130837.3(OPA1):c.900dup (p.Leu301fs)
|
rs2109002510
|
|
NM_130837.3(OPA1):c.949-1G>C
|
rs1733081846
|
|
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
|
NM_130837.3(OPA1):c.962A>G (p.Asp321Gly)
|
|
|