NM_018714.3(COG1):c.58G>C (p.Ala20Pro)
|
rs142719529
|
0.01075
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_018714.3(COG1):c.529A>G (p.Ile177Val)
|
rs150001655
|
0.00545
|
NM_018714.3(COG1):c.2620-10T>G
|
rs144989249
|
0.00513
|
NM_018714.3(COG1):c.522T>C (p.Pro174=)
|
rs75460067
|
0.00469
|
NM_001098832.2(VCF1):c.*1228G>A
|
rs141573449
|
0.00381
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
NM_018714.3(COG1):c.1710G>A (p.Leu570=)
|
rs139407216
|
0.00047
|
NM_018714.3(COG1):c.2418G>A (p.Ala806=)
|
rs141305065
|
0.00046
|
NM_018714.3(COG1):c.743-10C>G
|
rs185592690
|
0.00046
|
NM_018714.3(COG1):c.1350G>A (p.Gln450=)
|
rs143699348
|
0.00038
|
NM_018714.3(COG1):c.96G>A (p.Gly32=)
|
rs143964203
|
0.00029
|
NM_018714.3(COG1):c.2406C>T (p.Thr802=)
|
rs149083729
|
0.00024
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_018714.3(COG1):c.2221-7C>T
|
rs574849133
|
0.00018
|
NM_018714.3(COG1):c.2073+17C>T
|
rs375124338
|
0.00017
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg)
|
rs763484856
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.546C>T (p.Ala182=)
|
rs768914690
|
0.00009
|
NM_018714.3(COG1):c.613G>A (p.Asp205Asn)
|
rs141474045
|
0.00009
|
NM_018714.3(COG1):c.2223G>A (p.Pro741=)
|
rs147260793
|
0.00008
|
NM_018714.3(COG1):c.402G>A (p.Ser134=)
|
rs765699770
|
0.00008
|
NM_018714.3(COG1):c.2620-11_2620-10del
|
rs780690910
|
0.00007
|
NM_018714.3(COG1):c.258C>T (p.Tyr86=)
|
rs60688184
|
0.00006
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
NM_018714.3(COG1):c.2826C>T (p.Ser942=)
|
rs767159115
|
0.00005
|
NM_018714.3(COG1):c.575A>C (p.His192Pro)
|
rs141340733
|
0.00005
|
NM_018714.3(COG1):c.1071-15A>G
|
rs373571014
|
0.00004
|
NM_018714.3(COG1):c.2220+18G>C
|
rs1267855413
|
0.00004
|
NM_018714.3(COG1):c.2781C>T (p.Thr927=)
|
rs567297928
|
0.00004
|
NM_018714.3(COG1):c.34C>T (p.Arg12Trp)
|
rs201263432
|
0.00004
|
NM_018714.3(COG1):c.1035A>G (p.Glu345=)
|
rs199576608
|
0.00003
|
NM_018714.3(COG1):c.2790C>T (p.Ile930=)
|
rs770966526
|
0.00003
|
NM_018714.3(COG1):c.9C>T (p.Thr3=)
|
rs139516400
|
0.00003
|
NM_018714.3(COG1):c.1152C>T (p.Asp384=)
|
rs777144980
|
0.00002
|
NM_018714.3(COG1):c.126G>A (p.Glu42=)
|
rs944279563
|
0.00002
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_018714.3(COG1):c.2514T>C (p.Ile838=)
|
rs917892922
|
0.00002
|
NM_018714.3(COG1):c.2841G>A (p.Pro947=)
|
rs777590708
|
0.00002
|
NM_018714.3(COG1):c.984C>T (p.Ile328=)
|
rs756930348
|
0.00002
|
NM_018714.3(COG1):c.1017A>T (p.Ala339=)
|
rs1270386762
|
0.00001
|
NM_018714.3(COG1):c.1070+9C>A
|
rs781005411
|
0.00001
|
NM_018714.3(COG1):c.1116C>T (p.Tyr372=)
|
rs369118260
|
0.00001
|
NM_018714.3(COG1):c.1236G>A (p.Leu412=)
|
rs371641254
|
0.00001
|
NM_018714.3(COG1):c.261C>T (p.Cys87=)
|
rs1187216995
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_018714.3(COG1):c.273C>G (p.Arg91=)
|
rs1184771069
|
0.00001
|
NM_018714.3(COG1):c.2844A>G (p.Thr948=)
|
rs376824047
|
0.00001
|
NM_018714.3(COG1):c.2892G>A (p.Thr964=)
|
rs775097195
|
0.00001
|
NM_018714.3(COG1):c.504C>T (p.Pro168=)
|
rs773716192
|
0.00001
|
NM_018714.3(COG1):c.705G>A (p.Lys235=)
|
rs1384297418
|
0.00001
|
NM_018714.3(COG1):c.105C>G (p.Arg35=)
|
rs1599320719
|
|
NM_018714.3(COG1):c.1137C>T (p.Leu379=)
|
|
|
NM_018714.3(COG1):c.1140G>A (p.Ala380=)
|
|
|
NM_018714.3(COG1):c.1149G>A (p.Arg383=)
|
|
|
NM_018714.3(COG1):c.117C>T (p.Ala39=)
|
|
|
NM_018714.3(COG1):c.1206A>G (p.Leu402=)
|
|
|
NM_018714.3(COG1):c.1221G>A (p.Leu407=)
|
|
|
NM_018714.3(COG1):c.1282-15C>G
|
|
|
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
|
|
|
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
|
|
|
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
|
|
|
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
|
|
|
NM_018714.3(COG1):c.1767A>G (p.Leu589=)
|
rs2145098268
|
|
NM_018714.3(COG1):c.189C>A (p.Ala63=)
|
|
|
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
|
|
|
NM_018714.3(COG1):c.204G>A (p.Gln68=)
|
|
|
NM_018714.3(COG1):c.2052C>A (p.Val684=)
|
rs2145098651
|
|
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
|
|
|
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
|
|
|
NM_018714.3(COG1):c.2220+14A>G
|
|
|
NM_018714.3(COG1):c.2220+15T>C
|
|
|
NM_018714.3(COG1):c.2220+15T>G
|
|
|
NM_018714.3(COG1):c.2220+18del
|
rs1246223880
|
|
NM_018714.3(COG1):c.2220+9G>A
|
|
|
NM_018714.3(COG1):c.2361C>G (p.Leu787=)
|
|
|
NM_018714.3(COG1):c.2383-10T>C
|
|
|
NM_018714.3(COG1):c.2383-14G>A
|
rs965867949
|
|
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
|
|
|
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
|
|
|
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
|
|
|
NM_018714.3(COG1):c.2619+17A>T
|
|
|
NM_018714.3(COG1):c.2620-13T>C
|
rs2145106371
|
|
NM_018714.3(COG1):c.2620-9G>C
|
rs2061375147
|
|
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
|
|
|
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
|
|
|
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
|
|
|
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
|
|
|
NM_018714.3(COG1):c.2730-18T>C
|
|
|
NM_018714.3(COG1):c.2805+13_2805+20del
|
|
|
NM_018714.3(COG1):c.2805+18G>C
|
|
|
NM_018714.3(COG1):c.2817G>A (p.Pro939=)
|
|
|
NM_018714.3(COG1):c.2862C>T (p.Phe954=)
|
|
|
NM_018714.3(COG1):c.2928T>C (p.Ser976=)
|
|
|
NM_018714.3(COG1):c.315+18C>T
|
|
|
NM_018714.3(COG1):c.315+9C>G
|
|
|
NM_018714.3(COG1):c.316-6C>T
|
|
|
NM_018714.3(COG1):c.316-9C>T
|
|
|
NM_018714.3(COG1):c.327A>G (p.Pro109=)
|
|
|
NM_018714.3(COG1):c.423C>G (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.423C>T (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.426C>T (p.His142=)
|
|
|
NM_018714.3(COG1):c.510C>T (p.Leu170=)
|
|
|
NM_018714.3(COG1):c.549C>T (p.Ala183=)
|
rs1302286767
|
|
NM_018714.3(COG1):c.552C>T (p.Ser184=)
|
|
|
NM_018714.3(COG1):c.560+16G>A
|
|
|
NM_018714.3(COG1):c.560+18A>C
|
|
|
NM_018714.3(COG1):c.560+8G>A
|
|
|
NM_018714.3(COG1):c.561-11_561-9del
|
|
|
NM_018714.3(COG1):c.561-6T>C
|
rs1197833925
|
|
NM_018714.3(COG1):c.573G>T (p.Leu191=)
|
|
|
NM_018714.3(COG1):c.742+14C>G
|
|
|
NM_018714.3(COG1):c.743-4T>C
|
|
|
NM_018714.3(COG1):c.750T>C (p.Gly250=)
|
|
|
NM_018714.3(COG1):c.810T>C (p.His270=)
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.913+18C>A
|
rs2145093567
|
|
NM_018714.3(COG1):c.913+9T>G
|
|
|
NM_018714.3(COG1):c.914-8C>A
|
rs761810775
|
|
NM_018714.3(COG1):c.914-8C>G
|
|
|
NM_018714.3(COG1):c.930C>T (p.Val310=)
|
rs2145096162
|
|
NM_018714.3(COG1):c.987C>T (p.Val329=)
|
|
|