NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
NM_021980.4(OPTN):c.-161T>C
|
rs71492279
|
0.36888
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_001008212.2(OPTN):c.-215G>A
|
rs11548142
|
0.18691
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_001008212.2(OPTN):c.*269C>T
|
rs111484304
|
0.01294
|
NM_001008212.2(OPTN):c.-255C>G
|
rs2580915
|
0.01192
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001008212.2(OPTN):c.*562T>G
|
rs148646641
|
0.00706
|
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)
|
rs150381274
|
0.00525
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_001008212.2(OPTN):c.*1063C>A
|
rs530046832
|
0.00131
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_001008212.2(OPTN):c.-250C>A
|
rs886046818
|
0.00088
|
NM_001008212.2(OPTN):c.*461G>A
|
rs541250740
|
0.00081
|
NM_001008212.2(OPTN):c.*1285T>C
|
rs560947786
|
0.00057
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)
|
rs187734249
|
0.00045
|
NM_001008212.2(OPTN):c.*1385T>C
|
rs546352206
|
0.00017
|
NM_001008212.2(OPTN):c.*218G>C
|
rs886046824
|
0.00006
|
NM_001008212.2(OPTN):c.*413G>A
|
rs886046825
|
0.00006
|
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)
|
rs773095721
|
0.00006
|
NM_001008212.2(OPTN):c.*1089G>A
|
rs758812707
|
0.00005
|
NM_001008212.2(OPTN):c.-172G>A
|
rs1453573477
|
0.00005
|
NM_001008212.2(OPTN):c.*1251C>G
|
rs542617940
|
0.00004
|
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)
|
rs377219791
|
0.00004
|
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)
|
rs757411888
|
0.00004
|
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)
|
rs771316696
|
0.00003
|
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)
|
rs201896586
|
0.00003
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00002
|
NM_001008212.2(OPTN):c.*1111A>C
|
rs962236225
|
0.00001
|
NM_001008212.2(OPTN):c.*222G>C
|
rs1451563043
|
0.00001
|
NM_001008212.2(OPTN):c.*306G>A
|
rs538280633
|
0.00001
|
NM_001008212.2(OPTN):c.*335C>T
|
rs1251482519
|
0.00001
|
NM_001008212.2(OPTN):c.-272G>T
|
rs886046817
|
0.00001
|
NM_001008212.2(OPTN):c.-274C>A
|
rs552494483
|
0.00001
|
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
|
rs774245711
|
0.00001
|
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)
|
rs756622651
|
0.00001
|
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
|
rs1269604352
|
0.00001
|
NM_001008212.2(OPTN):c.444G>A (p.Val148=)
|
rs780011442
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_001008212.2(OPTN):c.780-2A>C
|
rs768117011
|
0.00001
|
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.*1042T>G
|
rs886046827
|
|
NM_001008212.2(OPTN):c.*386C>A
|
rs745564491
|
|
NM_001008212.2(OPTN):c.*631A>G
|
rs1833724733
|
|
NM_001008212.2(OPTN):c.*938C>G
|
rs886046826
|
|
NM_001008212.2(OPTN):c.-164+13A>G
|
rs556917167
|
|
NM_001008212.2(OPTN):c.-184C>G
|
rs955585590
|
|
NM_001008212.2(OPTN):c.-9A>G
|
rs779282676
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)
|
rs267606928
|
|
NM_001008212.2(OPTN):c.1217del (p.Thr406fs)
|
rs1833451208
|
|
NM_001008212.2(OPTN):c.1243-9C>A
|
rs1833497674
|
|
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro)
|
rs2131520977
|
|
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)
|
rs886046821
|
|
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)
|
rs267606929
|
|
NM_001008212.2(OPTN):c.166+349_370-945del
|
|
|
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)
|
rs1832936570
|
|
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)
|
rs1832971194
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
|
rs140599944
|
|
NM_001008212.2(OPTN):c.441G>A (p.Val147=)
|
rs886046819
|
|
NM_001008212.2(OPTN):c.76del (p.His26fs)
|
rs753966040
|
|
NM_001008212.2(OPTN):c.875dup (p.Glu293fs)
|
rs1833371664
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)
|
rs886046820
|
|
NM_021980.4(OPTN):c.-187G>T
|
rs553169923
|
|
NM_021980.4(OPTN):c.-227G>T
|
rs3814657
|
|
NM_021980.4(OPTN):c.-232G>T
|
rs886046816
|
|