NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.556+2T>G
|
rs762390227
|
0.00002
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter)
|
rs1048376563
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.1036-1G>A
|
rs863224130
|
|
NM_130837.3(OPA1):c.1036-1G>T
|
rs863224130
|
|
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)
|
rs1553876590
|
|
NM_130837.3(OPA1):c.1039G>T (p.Val347Phe)
|
rs2109014867
|
|
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe)
|
rs863224131
|
|
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)
|
rs2109014902
|
|
NM_130837.3(OPA1):c.1057A>G (p.Ser353Gly)
|
|
|
NM_130837.3(OPA1):c.1126A>G (p.Met376Val)
|
rs863224132
|
|
NM_130837.3(OPA1):c.1150-2A>T
|
rs886041317
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)
|
rs1180256773
|
|
NM_130837.3(OPA1):c.1230+5G>A
|
rs1057519244
|
|
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
|
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr)
|
rs863224135
|
|
NM_130837.3(OPA1):c.1377+5del
|
rs2109043788
|
|
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
|
|
|
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
|
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala)
|
rs1064795743
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
|
|
|
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro)
|
rs1553878117
|
|
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg)
|
rs1553878554
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1754+1dup
|
|
|
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
|
rs1711513392
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
|
|
|
NM_130837.3(OPA1):c.2013-1G>A
|
rs2109138708
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
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.2635C>T (p.Arg879Ter)
|
rs879255593
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2661+2T>C
|
|
|
NM_130837.3(OPA1):c.2661G>A (p.Leu887=)
|
rs2109232184
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2983+3G>C
|
rs1553788117
|
|
NM_130837.3(OPA1):c.2984-1_2986del
|
rs2109460398
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.3010del (p.Asp1005fs)
|
rs1721762061
|
|
NM_130837.3(OPA1):c.533del (p.Leu178fs)
|
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
|
|
|
NM_130837.3(OPA1):c.768C>G (p.Ser256Arg)
|
|
|
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter)
|
rs1319065221
|
|
NM_130837.3(OPA1):c.900dup (p.Leu301fs)
|
rs2109002510
|
|
NM_130837.3(OPA1):c.980T>C (p.Leu327Pro)
|
rs2109011461
|
|