NM_018714.3(COG1):c.1282-48T>C
|
rs1026130
|
0.98047
|
NM_018714.3(COG1):c.2383-17T>C
|
rs3829571
|
0.91491
|
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)
|
rs1026128
|
0.50958
|
NM_018714.2(COG1):c.-27A>G
|
rs3764359
|
0.50887
|
NM_018714.3(COG1):c.543A>G (p.Ala181=)
|
rs11544800
|
0.43890
|
NM_018714.3(COG1):c.333G>A (p.Gln111=)
|
rs1052706
|
0.43844
|
NM_018714.3(COG1):c.1473C>T (p.Ser491=)
|
rs1551036
|
0.13412
|
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln)
|
rs62621249
|
0.06636
|
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_018714.3(COG1):c.2231A>G (p.Tyr744Cys)
|
rs7208207
|
0.00447
|
NM_018714.3(COG1):c.775G>T (p.Val259Leu)
|
rs139304974
|
0.00419
|
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
NM_001098832.2(VCF1):c.*1228G>A
|
rs141573449
|
0.00381
|
NM_018714.3(COG1):c.1893C>T (p.Cys631=)
|
rs80232475
|
0.00230
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
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.1498A>T (p.Ser500Cys)
|
rs143051453
|
0.00058
|
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.2900C>G (p.Pro967Arg)
|
rs147588256
|
0.00034
|
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.1117G>A (p.Val373Met)
|
rs201886877
|
0.00022
|
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
|
rs142830395
|
0.00021
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
|
rs138121131
|
0.00020
|
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.2362T>C (p.Ser788Pro)
|
rs546366531
|
0.00016
|
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
|
rs1011259443
|
0.00013
|
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.265C>T (p.Arg89Cys)
|
rs766457949
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.542C>T (p.Ala181Val)
|
rs534708439
|
0.00012
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
NM_018714.3(COG1):c.1688C>T (p.Ala563Val)
|
rs375617141
|
0.00010
|
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
|
rs759050295
|
0.00010
|
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln)
|
rs149030357
|
0.00009
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)
|
rs200395052
|
0.00009
|
NM_018714.3(COG1):c.2262G>C (p.Gln754His)
|
rs756535197
|
0.00009
|
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
|
rs199752799
|
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.838C>A (p.Leu280Met)
|
rs140691967
|
0.00009
|
NM_018714.3(COG1):c.2223G>A (p.Pro741=)
|
rs147260793
|
0.00008
|
NM_018714.3(COG1):c.2752A>G (p.Met918Val)
|
rs201733537
|
0.00008
|
NM_018714.3(COG1):c.2818G>A (p.Ala940Thr)
|
rs144896007
|
0.00008
|
NM_018714.3(COG1):c.402G>A (p.Ser134=)
|
rs765699770
|
0.00008
|
NM_018714.3(COG1):c.1744G>A (p.Val582Met)
|
rs778769386
|
0.00007
|
NM_018714.3(COG1):c.2620-11_2620-10del
|
rs780690910
|
0.00007
|
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)
|
rs139676777
|
0.00006
|
NM_018714.3(COG1):c.2281G>A (p.Gly761Ser)
|
rs771789779
|
0.00006
|
NM_018714.3(COG1):c.258C>T (p.Tyr86=)
|
rs60688184
|
0.00006
|
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala)
|
rs777073858
|
0.00006
|
NM_018714.3(COG1):c.728A>G (p.Asn243Ser)
|
rs368856790
|
0.00006
|
NM_018714.3(COG1):c.164G>C (p.Arg55Pro)
|
rs751859972
|
0.00005
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)
|
rs148773959
|
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.914G>A (p.Gly305Glu)
|
rs375438969
|
0.00005
|
NM_018714.3(COG1):c.1071-15A>G
|
rs373571014
|
0.00004
|
NM_018714.3(COG1):c.1157T>C (p.Met386Thr)
|
rs200459268
|
0.00004
|
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
|
rs769310036
|
0.00004
|
NM_018714.3(COG1):c.2074-3C>G
|
rs372888977
|
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.2836G>A (p.Asp946Asn)
|
rs139440017
|
0.00004
|
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly)
|
rs757086937
|
0.00004
|
NM_018714.3(COG1):c.34C>T (p.Arg12Trp)
|
rs201263432
|
0.00004
|
NM_018714.3(COG1):c.427G>A (p.Ala143Thr)
|
rs747933899
|
0.00004
|
NM_018714.3(COG1):c.655G>C (p.Glu219Gln)
|
rs201963725
|
0.00004
|
NM_018714.3(COG1):c.1035A>G (p.Glu345=)
|
rs199576608
|
0.00003
|
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
|
rs139330442
|
0.00003
|
NM_018714.3(COG1):c.2790C>T (p.Ile930=)
|
rs770966526
|
0.00003
|
NM_018714.3(COG1):c.47G>T (p.Arg16Leu)
|
rs527295185
|
0.00003
|
NM_018714.3(COG1):c.87G>C (p.Glu29Asp)
|
rs375609831
|
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.1367C>G (p.Thr456Ser)
|
rs140675600
|
0.00002
|
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
|
rs752197597
|
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.2665C>T (p.Arg889Trp)
|
rs144316008
|
0.00002
|
NM_018714.3(COG1):c.2841G>A (p.Pro947=)
|
rs777590708
|
0.00002
|
NM_018714.3(COG1):c.2891C>T (p.Thr964Met)
|
rs767105962
|
0.00002
|
NM_018714.3(COG1):c.394T>C (p.Trp132Arg)
|
rs569882797
|
0.00002
|
NM_018714.3(COG1):c.984C>T (p.Ile328=)
|
rs756930348
|
0.00002
|
NM_001098832.2(VCF1):c.*1037G>A
|
rs369768700
|
0.00001
|
NM_018714.3(COG1):c.1017A>T (p.Ala339=)
|
rs1270386762
|
0.00001
|
NM_018714.3(COG1):c.1070+3A>G
|
rs201281586
|
0.00001
|
NM_018714.3(COG1):c.1070+9C>A
|
rs781005411
|
0.00001
|
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
|
rs761343140
|
0.00001
|
NM_018714.3(COG1):c.1108C>T (p.Leu370Phe)
|
rs1429642320
|
0.00001
|
NM_018714.3(COG1):c.1116C>T (p.Tyr372=)
|
rs369118260
|
0.00001
|
NM_018714.3(COG1):c.1153G>A (p.Ala385Thr)
|
rs770355508
|
0.00001
|
NM_018714.3(COG1):c.1236G>A (p.Leu412=)
|
rs371641254
|
0.00001
|
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly)
|
rs886053369
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser)
|
rs1451680348
|
0.00001
|
NM_018714.3(COG1):c.1474G>A (p.Val492Met)
|
rs565847659
|
0.00001
|
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
|
rs779677895
|
0.00001
|
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser)
|
rs770925715
|
0.00001
|
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
|
rs1485609633
|
0.00001
|
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
|
rs1313968056
|
0.00001
|
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
|
rs760702621
|
0.00001
|
NM_018714.3(COG1):c.1723G>A (p.Val575Met)
|
rs755592132
|
0.00001
|
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
|
rs1230710369
|
0.00001
|
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile)
|
rs936131075
|
0.00001
|
NM_018714.3(COG1):c.2035G>A (p.Val679Met)
|
rs1229728305
|
0.00001
|
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp)
|
rs766057419
|
0.00001
|
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln)
|
rs749884441
|
0.00001
|
NM_018714.3(COG1):c.2382+4G>A
|
rs1047192668
|
0.00001
|
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr)
|
rs138801104
|
0.00001
|
NM_018714.3(COG1):c.2600G>A (p.Arg867His)
|
rs374341080
|
0.00001
|
NM_018714.3(COG1):c.261C>T (p.Cys87=)
|
rs1187216995
|
0.00001
|
NM_018714.3(COG1):c.2675C>T (p.Thr892Met)
|
rs751977123
|
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.2791G>A (p.Glu931Lys)
|
rs774479733
|
0.00001
|
NM_018714.3(COG1):c.2844A>G (p.Thr948=)
|
rs376824047
|
0.00001
|
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
|
rs779987364
|
0.00001
|
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter)
|
rs748475815
|
0.00001
|
NM_018714.3(COG1):c.2892G>A (p.Thr964=)
|
rs775097195
|
0.00001
|
NM_018714.3(COG1):c.303G>A (p.Pro101=)
|
rs886053368
|
0.00001
|
NM_018714.3(COG1):c.311A>G (p.Gln104Arg)
|
rs1285029408
|
0.00001
|
NM_018714.3(COG1):c.504C>T (p.Pro168=)
|
rs773716192
|
0.00001
|
NM_018714.3(COG1):c.505G>A (p.Val169Ile)
|
rs761121843
|
0.00001
|
NM_018714.3(COG1):c.671G>A (p.Arg224His)
|
rs1434730052
|
0.00001
|
NM_018714.3(COG1):c.705G>A (p.Lys235=)
|
rs1384297418
|
0.00001
|
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
|
rs367884440
|
0.00001
|
NM_018714.3(COG1):c.79G>T (p.Ala27Ser)
|
rs529636950
|
0.00001
|
NM_018714.3(COG1):c.828G>T (p.Leu276Phe)
|
rs769317853
|
0.00001
|
NM_018714.3(COG1):c.85G>A (p.Glu29Lys)
|
rs1032371996
|
0.00001
|
NM_018714.3(COG1):c.988G>A (p.Glu330Lys)
|
rs779924491
|
0.00001
|
NC_000017.10:g.(?_71189189)_(71189543_?)dup
|
|
|
NM_001098832.2(VCF1):c.*1231_*1235del
|
|
|
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
|
|
|
NM_018714.3(COG1):c.105C>G (p.Arg35=)
|
rs1599320719
|
|
NM_018714.3(COG1):c.1070+5G>A
|
rs1568296260
|
|
NM_018714.3(COG1):c.1091del (p.Asn364fs)
|
|
|
NM_018714.3(COG1):c.1130del (p.Lys377fs)
|
rs2145097019
|
|
NM_018714.3(COG1):c.1137C>T (p.Leu379=)
|
|
|
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
|
|
|
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.1183A>C (p.Thr395Pro)
|
|
|
NM_018714.3(COG1):c.1206A>G (p.Leu402=)
|
|
|
NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)
|
|
|
NM_018714.3(COG1):c.1221G>A (p.Leu407=)
|
|
|
NM_018714.3(COG1):c.125A>C (p.Glu42Ala)
|
|
|
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln)
|
rs150638922
|
|
NM_018714.3(COG1):c.1282-15C>G
|
|
|
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
|
|
|
NM_018714.3(COG1):c.1343C>T (p.Ala448Val)
|
rs1372546537
|
|
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del)
|
rs1354666647
|
|
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)
|
|
|
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
|
|
|
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)
|
|
|
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg)
|
rs2145097990
|
|
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
|
|
|
NM_018714.3(COG1):c.153G>A (p.Met51Ile)
|
rs976164079
|
|
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
|
|
|
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
|
|
|
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
|
|
|
NM_018714.3(COG1):c.163C>T (p.Arg55Trp)
|
|
|
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
|
|
|
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
|
|
|
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr)
|
rs2145098238
|
|
NM_018714.3(COG1):c.1767A>G (p.Leu589=)
|
rs2145098268
|
|
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly)
|
rs2145098272
|
|
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly)
|
rs2145098299
|
|
NM_018714.3(COG1):c.1782G>A (p.Glu594=)
|
rs1037256
|
|
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
|
rs1037256
|
|
NM_018714.3(COG1):c.180C>G (p.Ile60Met)
|
|
|
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)
|
|
|
NM_018714.3(COG1):c.1826A>C (p.His609Pro)
|
|
|
NM_018714.3(COG1):c.189C>A (p.Ala63=)
|
|
|
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp)
|
rs772385793
|
|
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg)
|
|
|
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
|
|
|
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile)
|
rs2145098550
|
|
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser)
|
|
|
NM_018714.3(COG1):c.1A>G (p.Met1Val)
|
|
|
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp)
|
|
|
NM_018714.3(COG1):c.2008G>A (p.Val670Ile)
|
|
|
NM_018714.3(COG1):c.200G>T (p.Gly67Val)
|
rs886053367
|
|
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del)
|
rs398124346
|
|
NM_018714.3(COG1):c.204G>A (p.Gln68=)
|
|
|
NM_018714.3(COG1):c.2052C>A (p.Val684=)
|
rs2145098651
|
|
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile)
|
|
|
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr)
|
rs1232713937
|
|
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
|
|
|
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala)
|
rs1599328658
|
|
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile)
|
rs2145100344
|
|
NM_018714.3(COG1):c.218C>A (p.Ala73Asp)
|
|
|
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
|
|
|
NM_018714.3(COG1):c.2216C>T (p.Ala739Val)
|
|
|
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.2221-14_2221-13del
|
rs374132938
|
|
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
|
rs200395052
|
|
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)
|
|
|
NM_018714.3(COG1):c.2233G>A (p.Val745Ile)
|
rs2061356029
|
|
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp)
|
rs146952271
|
|
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.2383-17_2383-16inv
|
|
|
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)
|
|
|
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)
|
|
|
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)
|
|
|
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
|
|
|
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)
|
|
|
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)
|
|
|
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr)
|
rs2061367152
|
|
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)
|
|
|
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)
|
|
|
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
|
|
|
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser)
|
|
|
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
|
|
|
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
|
|
|
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser)
|
rs2145105028
|
|
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
|
rs555212855
|
|
NM_018714.3(COG1):c.2605G>A (p.Val869Met)
|
rs886053370
|
|
NM_018714.3(COG1):c.2606T>G (p.Val869Gly)
|
rs1599331791
|
|
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
|
|
|
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.2626_2629dup (p.Gly877fs)
|
rs1568298983
|
|
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
|
|
|
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)
|
|
|
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
|
|
|
NM_018714.3(COG1):c.2665dup (p.Arg889fs)
|
rs747606976
|
|
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg)
|
rs751977123
|
|
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
|
|
|
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)
|
|
|
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_018714.3(COG1):c.26C>T (p.Ala9Val)
|
rs759369353
|
|
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
|
|
|
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys)
|
rs1468033790
|
|
NM_018714.3(COG1):c.2729+3_2729+9del
|
rs771485996
|
|
NM_018714.3(COG1):c.272G>T (p.Arg91Leu)
|
|
|
NM_018714.3(COG1):c.2730-18T>C
|
|
|
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
|
|
|
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)
|
rs774479733
|
|
NM_018714.3(COG1):c.2805+13_2805+20del
|
|
|
NM_018714.3(COG1):c.2805+18G>C
|
|
|
NM_018714.3(COG1):c.2808T>C (p.Val936=)
|
rs1382677421
|
|
NM_018714.3(COG1):c.2816dup (p.Ala940fs)
|
rs776834154
|
|
NM_018714.3(COG1):c.2817G>A (p.Pro939=)
|
|
|
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)
|
|
|
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu)
|
rs755921036
|
|
NM_018714.3(COG1):c.2862C>T (p.Phe954=)
|
|
|
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro)
|
rs2145112419
|
|
NM_018714.3(COG1):c.2872G>A (p.Val958Ile)
|
|
|
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp)
|
rs2145112491
|
|
NM_018714.3(COG1):c.2928T>C (p.Ser976=)
|
|
|
NM_018714.3(COG1):c.305G>C (p.Arg102Pro)
|
rs1305832253
|
|
NM_018714.3(COG1):c.308C>T (p.Ala103Val)
|
|
|
NM_018714.3(COG1):c.315+10C>G
|
rs1188495993
|
|
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.334_336del (p.Glu112del)
|
|
|
NM_018714.3(COG1):c.403A>T (p.Met135Leu)
|
|
|
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.448T>A (p.Cys150Ser)
|
|
|
NM_018714.3(COG1):c.494G>A (p.Arg165Gln)
|
rs777018719
|
|
NM_018714.3(COG1):c.509T>C (p.Leu170Pro)
|
rs2145092629
|
|
NM_018714.3(COG1):c.510C>T (p.Leu170=)
|
|
|
NM_018714.3(COG1):c.511T>C (p.Ser171Pro)
|
|
|
NM_018714.3(COG1):c.514C>T (p.Arg172Trp)
|
|
|
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
|
|
|
NM_018714.3(COG1):c.549C>T (p.Ala183=)
|
rs1302286767
|
|
NM_018714.3(COG1):c.552C>T (p.Ser184=)
|
|
|
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
|
|
|
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.560G>A (p.Arg187Gln)
|
|
|
NM_018714.3(COG1):c.561-11_561-9del
|
|
|
NM_018714.3(COG1):c.561-1G>A
|
|
|
NM_018714.3(COG1):c.561-6T>C
|
rs1197833925
|
|
NM_018714.3(COG1):c.561-6T>G
|
|
|
NM_018714.3(COG1):c.565A>G (p.Thr189Ala)
|
rs193248551
|
|
NM_018714.3(COG1):c.573G>T (p.Leu191=)
|
|
|
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr)
|
rs2145093008
|
|
NM_018714.3(COG1):c.599G>C (p.Cys200Ser)
|
|
|
NM_018714.3(COG1):c.622G>A (p.Val208Met)
|
|
|
NM_018714.3(COG1):c.626C>T (p.Ala209Val)
|
|
|
NM_018714.3(COG1):c.628G>A (p.Glu210Lys)
|
|
|
NM_018714.3(COG1):c.628G>C (p.Glu210Gln)
|
rs567533944
|
|
NM_018714.3(COG1):c.649C>G (p.Leu217Val)
|
|
|
NM_018714.3(COG1):c.701G>A (p.Arg234Lys)
|
|
|
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
|
rs1486692795
|
|
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.833_835del (p.Glu278del)
|
|
|
NM_018714.3(COG1):c.847G>A (p.Asp283Asn)
|
rs2145093457
|
|
NM_018714.3(COG1):c.850C>T (p.Pro284Ser)
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.907C>T (p.Pro303Ser)
|
rs750659961
|
|
NM_018714.3(COG1):c.913+18C>A
|
rs2145093567
|
|
NM_018714.3(COG1):c.913+9T>G
|
|
|
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)
|
|
|
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.967C>A (p.His323Asn)
|
rs369505856
|
|
NM_018714.3(COG1):c.980C>T (p.Ser327Phe)
|
rs2145096200
|
|
NM_018714.3(COG1):c.985G>A (p.Val329Ile)
|
rs778591192
|
|
NM_018714.3(COG1):c.987C>T (p.Val329=)
|
|
|