NM_020751.3(COG6):c.297+47C>T
|
rs7330016
|
0.65748
|
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)
|
rs3812883
|
0.43470
|
NM_020751.3(COG6):c.1009+9A>G
|
rs4129745
|
0.28442
|
NM_020751.3(COG6):c.1074+18T>C
|
rs9548882
|
0.20795
|
NM_020751.3(COG6):c.1340T>C (p.Met447Thr)
|
rs41286961
|
0.05379
|
NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)
|
rs114044193
|
0.00750
|
NM_020751.3(COG6):c.153+19G>A
|
rs45508796
|
0.00460
|
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)
|
rs34623774
|
0.00327
|
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
|
rs139313781
|
0.00280
|
NM_020751.3(COG6):c.1693-7_1693-6del
|
rs1491507046
|
0.00273
|
NM_020751.3(COG6):c.729C>T (p.Asp243=)
|
rs117688574
|
0.00218
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00196
|
NM_020751.3(COG6):c.65A>G (p.Asn22Ser)
|
rs149055210
|
0.00133
|
NM_020751.3(COG6):c.1308T>G (p.Leu436=)
|
rs61754105
|
0.00118
|
NM_020751.3(COG6):c.1693-12T>C
|
rs561776134
|
0.00097
|
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)
|
rs141114931
|
0.00078
|
NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)
|
rs139371264
|
0.00073
|
NM_020751.3(COG6):c.1693-7T>A
|
rs34566895
|
0.00073
|
NM_020751.3(COG6):c.1947G>A (p.Pro649=)
|
rs147311831
|
0.00069
|
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys)
|
rs144843064
|
0.00061
|
NM_020751.3(COG6):c.370-18A>G
|
rs184193902
|
0.00043
|
NM_020751.3(COG6):c.*1532T>G
|
rs61954232
|
0.00042
|
NM_020751.3(COG6):c.1233A>G (p.Lys411=)
|
rs201806513
|
0.00035
|
NM_020751.3(COG6):c.1263T>C (p.His421=)
|
rs147295042
|
0.00024
|
NM_020751.3(COG6):c.1827-4A>G
|
rs375878630
|
0.00021
|
NM_020751.3(COG6):c.1075-12A>C
|
rs370228676
|
0.00016
|
NM_020751.3(COG6):c.261T>C (p.Asn87=)
|
rs146261996
|
0.00016
|
NM_020751.3(COG6):c.1533A>T (p.Thr511=)
|
rs201542120
|
0.00012
|
NM_020751.3(COG6):c.155A>G (p.Glu52Gly)
|
rs201308360
|
0.00012
|
NM_020751.3(COG6):c.1693-8_1693-6del
|
rs375280565
|
0.00012
|
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)
|
rs201922229
|
0.00011
|
NM_020751.3(COG6):c.730G>A (p.Val244Ile)
|
rs147560202
|
0.00011
|
NM_020751.3(COG6):c.1891G>A (p.Val631Met)
|
rs143909067
|
0.00010
|
NM_020751.3(COG6):c.303T>C (p.Leu101=)
|
rs764185523
|
0.00010
|
NM_020751.3(COG6):c.1760G>A (p.Arg587His)
|
rs191156299
|
0.00009
|
NM_020751.3(COG6):c.1140C>T (p.Leu380=)
|
rs772945485
|
0.00008
|
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg)
|
rs756742630
|
0.00008
|
NM_020751.3(COG6):c.1071A>G (p.Leu357=)
|
rs746862943
|
0.00005
|
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu)
|
rs886050227
|
0.00005
|
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr)
|
rs773262760
|
0.00004
|
NM_020751.3(COG6):c.336C>T (p.Ser112=)
|
rs111943857
|
0.00004
|
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
|
rs200177031
|
0.00004
|
NM_020751.3(COG6):c.556C>A (p.Leu186Met)
|
rs781524524
|
0.00004
|
NM_020751.3(COG6):c.939T>C (p.Ala313=)
|
rs550755756
|
0.00004
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_020751.3(COG6):c.1961C>T (p.Thr654Met)
|
rs747232819
|
0.00003
|
NM_020751.3(COG6):c.69G>A (p.Gly23=)
|
rs372786424
|
0.00003
|
NM_020751.3(COG6):c.119A>G (p.His40Arg)
|
rs148246113
|
0.00002
|
NM_020751.3(COG6):c.134C>T (p.Thr45Met)
|
rs545371712
|
0.00002
|
NM_020751.3(COG6):c.1368C>T (p.His456=)
|
rs550615578
|
0.00002
|
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)
|
rs746119230
|
0.00002
|
NM_020751.3(COG6):c.1558A>C (p.Arg520=)
|
rs760219472
|
0.00002
|
NM_020751.3(COG6):c.1892dup (p.Met632fs)
|
rs1486717174
|
0.00002
|
NM_020751.3(COG6):c.1009+15T>C
|
rs757170273
|
0.00001
|
NM_020751.3(COG6):c.1009+6T>C
|
rs752382409
|
0.00001
|
NM_020751.3(COG6):c.123G>A (p.Lys41=)
|
rs757337069
|
0.00001
|
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)
|
rs756614480
|
0.00001
|
NM_020751.3(COG6):c.126C>T (p.Ile42=)
|
rs746085866
|
0.00001
|
NM_020751.3(COG6):c.154-12C>T
|
rs368678409
|
0.00001
|
NM_020751.3(COG6):c.1585-2A>G
|
rs200812708
|
0.00001
|
NM_020751.3(COG6):c.697G>A (p.Glu233Lys)
|
rs745501973
|
0.00001
|
NM_020751.3(COG6):c.868C>T (p.Pro290Ser)
|
rs748959066
|
0.00001
|
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys)
|
rs754624882
|
0.00001
|
NM_020751.3(COG6):c.*315del
|
rs142947196
|
|
NM_020751.3(COG6):c.1036G>A (p.Val346Ile)
|
rs1876874289
|
|
NM_020751.3(COG6):c.1043A>G (p.His348Arg)
|
rs2138012022
|
|
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
|
|
|
NM_020751.3(COG6):c.1140C>G (p.Leu380=)
|
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020751.3(COG6):c.1242C>T (p.Phe414=)
|
rs2138033067
|
|
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
|
|
|
NM_020751.3(COG6):c.1357T>C (p.Leu453=)
|
rs2138074922
|
|
NM_020751.3(COG6):c.1362A>G (p.Ala454=)
|
|
|
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
|
|
|
NM_020751.3(COG6):c.153+11C>A
|
rs371609631
|
|
NM_020751.3(COG6):c.1542A>G (p.Leu514=)
|
|
|
NM_020751.3(COG6):c.1587C>T (p.Ile529=)
|
|
|
NM_020751.3(COG6):c.1602C>T (p.Asp534=)
|
|
|
NM_020751.3(COG6):c.1692+12G>C
|
|
|
NM_020751.3(COG6):c.1692+14T>C
|
|
|
NM_020751.3(COG6):c.1692+19C>T
|
rs200316624
|
|
NM_020751.3(COG6):c.1692+9A>G
|
|
|
NM_020751.3(COG6):c.1693-4del
|
rs66629036
|
|
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
|
|
|
NM_020751.3(COG6):c.1746+2T>G
|
rs1555280464
|
|
NM_020751.3(COG6):c.1747-19A>G
|
rs776576163
|
|
NM_020751.3(COG6):c.1786T>C (p.Leu596=)
|
|
|
NM_020751.3(COG6):c.1826+3A>C
|
rs768907183
|
|
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
|
|
|
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala)
|
rs1284095057
|
|
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
|
|
|
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
|
|
|
NM_020751.3(COG6):c.24G>A (p.Val8=)
|
|
|
NM_020751.3(COG6):c.252del (p.Ala85fs)
|
rs2137942150
|
|
NM_020751.3(COG6):c.26T>A (p.Val9Asp)
|
rs2137932050
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|
NM_020751.3(COG6):c.299A>T (p.Glu100Val)
|
rs866336771
|
|
NM_020751.3(COG6):c.370-18A>T
|
|
|
NM_020751.3(COG6):c.535A>G (p.Thr179Ala)
|
rs1322763277
|
|
NM_020751.3(COG6):c.53A>G (p.Asn18Ser)
|
rs2137932213
|
|
NM_020751.3(COG6):c.624-3dup
|
rs397756552
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_020751.3(COG6):c.694+7G>T
|
|
|
NM_020751.3(COG6):c.695G>A (p.Ser232Asn)
|
rs780879386
|
|
NM_020751.3(COG6):c.70G>T (p.Ala24Ser)
|
rs539907116
|
|
NM_020751.3(COG6):c.723A>G (p.Ser241=)
|
|
|
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
|
|
|
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
|
|
|
NM_020751.3(COG6):c.788+10T>A
|
rs1876360494
|
|
NM_020751.3(COG6):c.788+5G>A
|
|
|
NM_020751.3(COG6):c.80C>G (p.Thr27Ser)
|
rs776763438
|
|
NM_020751.3(COG6):c.84G>C (p.Ser28=)
|
rs374783198
|
|
NM_020751.3(COG6):c.851C>T (p.Ala284Val)
|
rs148869108
|
|
NM_020751.3(COG6):c.855C>T (p.Leu285=)
|
rs544831978
|
|
NM_020751.3(COG6):c.870C>T (p.Pro290=)
|
|
|
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
|
|
|
NM_020751.3(COG6):c.956C>T (p.Thr319Ile)
|
rs1428739783
|
|
NM_020751.3(COG6):c.981A>G (p.Glu327=)
|
rs2138007330
|
|
NM_020751.3(COG6):c.989T>C (p.Leu330Ser)
|
rs1876747862
|
|
NM_020751.3(COG6):c.993G>A (p.Lys331=)
|
|
|
NM_020751.3(COG6):c.9G>C (p.Glu3Asp)
|
rs1016478271
|
|