NM_006348.5(COG5):c.895T>C (p.Phe299Leu)
|
rs2269970
|
0.64619
|
NM_006348.5(COG5):c.234+16T>A
|
rs2520272
|
0.41271
|
NM_006348.5(COG5):c.347+4C>A
|
rs2066735
|
0.26803
|
NM_006348.5(COG5):c.949-18A>G
|
rs12536603
|
0.15851
|
NM_006348.5(COG5):c.*828C>G
|
rs7981
|
0.15427
|
NM_006348.5(COG5):c.1689T>G (p.Val563=)
|
rs17349904
|
0.15364
|
NM_006348.5(COG5):c.1000A>G (p.Ile334Val)
|
rs34087251
|
0.06004
|
NM_006348.5(COG5):c.1827C>T (p.Ile609=)
|
rs35581984
|
0.03303
|
NG_028095.1(COG5):g.5589G>A
|
rs73419464
|
0.02557
|
NM_006348.5(COG5):c.1257A>G (p.Leu419=)
|
rs74443110
|
0.01554
|
NM_006348.5(COG5):c.539-17G>A
|
rs150929025
|
0.01278
|
NM_006348.5(COG5):c.876T>G (p.Thr292=)
|
rs74522314
|
0.00898
|
NM_006348.5(COG5):c.*678T>C
|
rs149142658
|
0.00618
|
NM_006348.5(COG5):c.*293T>C
|
rs6958494
|
0.00577
|
NM_006348.5(COG5):c.*437A>G
|
rs193127052
|
0.00506
|
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)
|
rs41276187
|
0.00389
|
NM_006348.5(COG5):c.735T>A (p.Ile245=)
|
rs116603307
|
0.00385
|
NM_006348.5(COG5):c.1262A>G (p.His421Arg)
|
rs35393416
|
0.00266
|
NM_006348.5(COG5):c.538+20T>A
|
rs537674225
|
0.00209
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
NM_006348.5(COG5):c.538+21A>T
|
rs568603073
|
0.00197
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
NM_006348.5(COG5):c.*157T>C
|
rs188638963
|
0.00160
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
NM_006348.5(COG5):c.2124A>G (p.Arg708=)
|
rs148020994
|
0.00135
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_006348.5(COG5):c.451A>G (p.Ile151Val)
|
rs79413133
|
0.00091
|
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)
|
rs151129529
|
0.00086
|
NM_006348.5(COG5):c.293-18A>G
|
rs75441879
|
0.00083
|
NM_006348.5(COG5):c.927T>C (p.His309=)
|
rs140684568
|
0.00083
|
NM_006348.5(COG5):c.*550A>G
|
rs538476088
|
0.00070
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu)
|
rs184902233
|
0.00056
|
NM_006348.5(COG5):c.361A>C (p.Ile121Leu)
|
rs138976539
|
0.00042
|
NM_006348.5(COG5):c.1475+16A>G
|
rs201100132
|
0.00039
|
NM_006348.5(COG5):c.2271C>T (p.Pro757=)
|
rs145648013
|
0.00039
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
NM_006348.5(COG5):c.1184G>A (p.Arg395His)
|
rs142357535
|
0.00037
|
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys)
|
rs149517266
|
0.00036
|
NM_006348.5(COG5):c.247C>T (p.His83Tyr)
|
rs149488863
|
0.00036
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
NM_006348.5(COG5):c.15C>G (p.Gly5=)
|
rs202123650
|
0.00035
|
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu)
|
rs140418178
|
0.00034
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
NM_006348.5(COG5):c.920T>C (p.Met307Thr)
|
rs372882041
|
0.00029
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
NM_006348.5(COG5):c.2485C>T (p.Gln829Ter)
|
rs549788738
|
0.00027
|
NM_006348.5(COG5):c.*865C>G
|
rs540645627
|
0.00020
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
NM_006348.5(COG5):c.1789C>T (p.Leu597Phe)
|
rs148575627
|
0.00017
|
NM_006348.5(COG5):c.1027-12T>G
|
rs752334970
|
0.00016
|
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys)
|
rs143592207
|
0.00016
|
NM_006348.5(COG5):c.2295+8A>G
|
rs377392848
|
0.00016
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
NM_006348.5(COG5):c.67G>C (p.Ala23Pro)
|
rs146391348
|
0.00016
|
NM_006348.5(COG5):c.524G>A (p.Ser175Asn)
|
rs770046536
|
0.00013
|
NM_006348.5(COG5):c.2299G>T (p.Ala767Ser)
|
rs184760203
|
0.00012
|
NM_006348.5(COG5):c.2232G>A (p.Pro744=)
|
rs374402677
|
0.00011
|
NM_006348.5(COG5):c.267A>G (p.Gln89=)
|
rs763508355
|
0.00011
|
NM_006348.5(COG5):c.2088A>C (p.Ala696=)
|
rs372319280
|
0.00010
|
NM_006348.5(COG5):c.*606A>G
|
rs772464238
|
0.00009
|
NM_006348.5(COG5):c.*986G>A
|
rs886061870
|
0.00009
|
NM_006348.5(COG5):c.1416G>A (p.Pro472=)
|
rs149574256
|
0.00009
|
NM_006348.5(COG5):c.2215T>C (p.Leu739=)
|
rs374796275
|
0.00009
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
NM_006348.5(COG5):c.795C>T (p.Asp265=)
|
rs372226278
|
0.00009
|
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys)
|
rs754614179
|
0.00008
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
NM_006348.5(COG5):c.1313+15T>C
|
rs201626650
|
0.00007
|
NM_006348.5(COG5):c.1476T>C (p.Ser492=)
|
rs201478249
|
0.00007
|
NM_006348.5(COG5):c.1829C>A (p.Thr610Asn)
|
rs760831906
|
0.00007
|
NM_006348.5(COG5):c.586A>G (p.Asn196Asp)
|
rs201841638
|
0.00007
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
NM_006348.5(COG5):c.2169-16T>A
|
rs776440647
|
0.00006
|
NM_006348.5(COG5):c.2169-6G>A
|
rs200895224
|
0.00006
|
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro)
|
rs34100214
|
0.00006
|
NM_006348.5(COG5):c.348-16C>T
|
rs780403880
|
0.00006
|
NM_006348.5(COG5):c.1038G>A (p.Pro346=)
|
rs148802109
|
0.00005
|
NM_006348.5(COG5):c.2451G>A (p.Met817Ile)
|
rs760038268
|
0.00005
|
NM_006348.5(COG5):c.538+5del
|
rs761862013
|
0.00005
|
NM_006348.5(COG5):c.796A>T (p.Ile266Leu)
|
rs768338390
|
0.00005
|
NC_000007.14:g.107563953A>G
|
rs758429632
|
0.00004
|
NM_006348.5(COG5):c.-4C>T
|
rs1371412798
|
0.00004
|
NM_006348.5(COG5):c.102T>C (p.Tyr34=)
|
rs777099343
|
0.00004
|
NM_006348.5(COG5):c.1198A>G (p.Ser400Gly)
|
rs372144586
|
0.00004
|
NM_006348.5(COG5):c.1238C>T (p.Thr413Ile)
|
rs147389453
|
0.00004
|
NM_006348.5(COG5):c.1303C>T (p.Pro435Ser)
|
rs759734221
|
0.00004
|
NM_006348.5(COG5):c.1343A>G (p.Gln448Arg)
|
rs762315475
|
0.00004
|
NM_006348.5(COG5):c.1415C>T (p.Pro472Leu)
|
rs143591444
|
0.00004
|
NM_006348.5(COG5):c.141T>C (p.Tyr47=)
|
rs766371051
|
0.00004
|
NM_006348.5(COG5):c.1842A>C (p.Glu614Asp)
|
rs772330572
|
0.00004
|
NM_006348.5(COG5):c.2272G>A (p.Ala758Thr)
|
rs370066143
|
0.00004
|
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)
|
rs370851836
|
0.00004
|
NM_006348.5(COG5):c.684C>T (p.Val228=)
|
rs773862978
|
0.00004
|
NM_006348.5(COG5):c.907A>G (p.Met303Val)
|
rs1001137054
|
0.00004
|
NM_006348.5(COG5):c.948+5A>G
|
rs776326738
|
0.00004
|
NM_006348.5(COG5):c.*617A>C
|
rs894757078
|
0.00003
|
NM_006348.5(COG5):c.1112C>T (p.Ser371Leu)
|
rs776804916
|
0.00003
|
NM_006348.5(COG5):c.1183C>T (p.Arg395Cys)
|
rs376754542
|
0.00003
|
NM_006348.5(COG5):c.159T>C (p.His53=)
|
rs368148545
|
0.00003
|
NM_006348.5(COG5):c.1750-11T>C
|
rs368740481
|
0.00003
|
NM_006348.5(COG5):c.184G>A (p.Ala62Thr)
|
rs375537266
|
0.00003
|
NM_006348.5(COG5):c.1853+8C>A
|
rs774900756
|
0.00003
|
NM_006348.5(COG5):c.1956T>C (p.Phe652=)
|
rs1358993369
|
0.00003
|
NM_006348.5(COG5):c.2092A>G (p.Met698Val)
|
rs749445329
|
0.00003
|
NM_006348.5(COG5):c.2433A>C (p.Ala811=)
|
rs775853693
|
0.00003
|
NM_006348.5(COG5):c.314C>T (p.Thr105Met)
|
rs755030238
|
0.00003
|
NM_006348.5(COG5):c.390C>T (p.Ala130=)
|
rs575783486
|
0.00003
|
NM_006348.5(COG5):c.538+8T>G
|
rs1018824602
|
0.00003
|
NM_006348.5(COG5):c.614G>A (p.Arg205Gln)
|
rs368331483
|
0.00003
|
NM_006348.5(COG5):c.733A>G (p.Ile245Val)
|
rs533220570
|
0.00003
|
NM_006348.5(COG5):c.*162T>C
|
rs1000375620
|
0.00002
|
NM_006348.5(COG5):c.*247T>C
|
rs886061872
|
0.00002
|
NM_006348.5(COG5):c.*409T>C
|
rs912460078
|
0.00002
|
NM_006348.5(COG5):c.*634T>C
|
rs527645957
|
0.00002
|
NM_006348.5(COG5):c.*867A>G
|
rs1003504113
|
0.00002
|
NM_006348.5(COG5):c.-15C>T
|
rs772850481
|
0.00002
|
NM_006348.5(COG5):c.1026+4T>C
|
rs748372051
|
0.00002
|
NM_006348.5(COG5):c.1027-5C>T
|
rs767208462
|
0.00002
|
NM_006348.5(COG5):c.1096A>G (p.Met366Val)
|
rs768962367
|
0.00002
|
NM_006348.5(COG5):c.1177T>C (p.Trp393Arg)
|
rs780609950
|
0.00002
|
NM_006348.5(COG5):c.154A>G (p.Ile52Val)
|
rs776828196
|
0.00002
|
NM_006348.5(COG5):c.1766T>C (p.Met589Thr)
|
rs777200785
|
0.00002
|
NM_006348.5(COG5):c.1845C>T (p.Asp615=)
|
rs746373863
|
0.00002
|
NM_006348.5(COG5):c.1882G>A (p.Val628Ile)
|
rs541139830
|
0.00002
|
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys)
|
rs771961452
|
0.00002
|
NM_006348.5(COG5):c.2009T>C (p.Val670Ala)
|
rs773647928
|
0.00002
|
NM_006348.5(COG5):c.2021T>C (p.Ile674Thr)
|
rs933746900
|
0.00002
|
NM_006348.5(COG5):c.2036T>C (p.Leu679Pro)
|
rs975245291
|
0.00002
|
NM_006348.5(COG5):c.2048T>C (p.Leu683Pro)
|
rs558759709
|
0.00002
|
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)
|
rs762675426
|
0.00002
|
NM_006348.5(COG5):c.2123G>A (p.Arg708Gln)
|
rs772812050
|
0.00002
|
NM_006348.5(COG5):c.216C>T (p.Asp72=)
|
rs143972347
|
0.00002
|
NM_006348.5(COG5):c.2261C>T (p.Thr754Met)
|
rs760602600
|
0.00002
|
NM_006348.5(COG5):c.2269C>T (p.Pro757Ser)
|
rs148259908
|
0.00002
|
NM_006348.5(COG5):c.2295+18G>C
|
rs748577968
|
0.00002
|
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)
|
rs767217808
|
0.00002
|
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg)
|
rs149616917
|
0.00002
|
NM_006348.5(COG5):c.2479G>C (p.Ala827Pro)
|
rs747809652
|
0.00002
|
NM_006348.5(COG5):c.268G>A (p.Ala90Thr)
|
rs773864216
|
0.00002
|
NM_006348.5(COG5):c.399A>T (p.Ala133=)
|
rs375237727
|
0.00002
|
NM_006348.5(COG5):c.418-6del
|
rs766142910
|
0.00002
|
NM_006348.5(COG5):c.551A>G (p.Gln184Arg)
|
rs753818358
|
0.00002
|
NM_006348.5(COG5):c.59C>T (p.Ala20Val)
|
rs368239973
|
0.00002
|
NM_006348.5(COG5):c.639G>A (p.Lys213=)
|
rs925413684
|
0.00002
|
NM_006348.5(COG5):c.679C>A (p.Gln227Lys)
|
rs969075609
|
0.00002
|
NM_006348.5(COG5):c.836-4C>A
|
rs1001144225
|
0.00002
|
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)
|
rs548774836
|
0.00002
|
NM_006348.5(COG5):c.961C>A (p.Gln321Lys)
|
rs370028534
|
0.00002
|
NC_000007.14:g.107563941G>A
|
rs1445399193
|
0.00001
|
NC_000007.14:g.107563947G>A
|
rs765560840
|
0.00001
|
NM_006348.5(COG5):c.*622C>T
|
rs548613467
|
0.00001
|
NM_006348.5(COG5):c.*89A>G
|
rs1798504316
|
0.00001
|
NM_006348.5(COG5):c.*8A>C
|
rs750444305
|
0.00001
|
NM_006348.5(COG5):c.-1C>T
|
rs746011817
|
0.00001
|
NM_006348.5(COG5):c.-3A>G
|
rs779868604
|
0.00001
|
NM_006348.5(COG5):c.1027-10T>C
|
rs1449874316
|
0.00001
|
NM_006348.5(COG5):c.1049A>G (p.Tyr350Cys)
|
rs1388958454
|
0.00001
|
NM_006348.5(COG5):c.1071T>C (p.Thr357=)
|
rs773266850
|
0.00001
|
NM_006348.5(COG5):c.1073A>G (p.Gln358Arg)
|
rs766011355
|
0.00001
|
NM_006348.5(COG5):c.1113G>A (p.Ser371=)
|
rs768870825
|
0.00001
|
NM_006348.5(COG5):c.1153T>C (p.Leu385=)
|
rs746295764
|
0.00001
|
NM_006348.5(COG5):c.1159del (p.Arg387fs)
|
rs1422285851
|
0.00001
|
NM_006348.5(COG5):c.116A>G (p.Asn39Ser)
|
rs141581564
|
0.00001
|
NM_006348.5(COG5):c.1191A>G (p.Gln397=)
|
rs758096164
|
0.00001
|
NM_006348.5(COG5):c.1240G>A (p.Asp414Asn)
|
rs368514277
|
0.00001
|
NM_006348.5(COG5):c.1250T>G (p.Val417Gly)
|
rs773761601
|
0.00001
|
NM_006348.5(COG5):c.1314-3C>T
|
rs1432561660
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006348.5(COG5):c.1389C>T (p.Phe463=)
|
rs748974685
|
0.00001
|
NM_006348.5(COG5):c.1410T>A (p.Phe470Leu)
|
rs769542319
|
0.00001
|
NM_006348.5(COG5):c.1424G>A (p.Arg475His)
|
rs1197475508
|
0.00001
|
NM_006348.5(COG5):c.1432C>T (p.Pro478Ser)
|
rs1279772707
|
0.00001
|
NM_006348.5(COG5):c.1452T>C (p.Asp484=)
|
rs1228777798
|
0.00001
|
NM_006348.5(COG5):c.1475+1G>A
|
rs1465217212
|
0.00001
|
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly)
|
rs1037950511
|
0.00001
|
NM_006348.5(COG5):c.1569G>A (p.Glu523=)
|
rs1375308939
|
0.00001
|
NM_006348.5(COG5):c.1575+17A>G
|
rs775465748
|
0.00001
|
NM_006348.5(COG5):c.1687G>T (p.Val563Phe)
|
rs773453129
|
0.00001
|
NM_006348.5(COG5):c.1749+7G>A
|
rs906116599
|
0.00001
|
NM_006348.5(COG5):c.17G>A (p.Gly6Asp)
|
rs919495599
|
0.00001
|
NM_006348.5(COG5):c.1832T>G (p.Met611Arg)
|
rs144172205
|
0.00001
|
NM_006348.5(COG5):c.1838A>G (p.Gln613Arg)
|
rs1186643281
|
0.00001
|
NM_006348.5(COG5):c.1853+1G>C
|
rs1237315874
|
0.00001
|
NM_006348.5(COG5):c.185C>T (p.Ala62Val)
|
rs886061875
|
0.00001
|
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro)
|
rs751860643
|
0.00001
|
NM_006348.5(COG5):c.206G>A (p.Ser69Asn)
|
rs372287766
|
0.00001
|
NM_006348.5(COG5):c.2084T>G (p.Phe695Cys)
|
rs199526957
|
0.00001
|
NM_006348.5(COG5):c.210G>A (p.Gln70=)
|
rs779941468
|
0.00001
|
NM_006348.5(COG5):c.211T>C (p.Leu71=)
|
rs202088548
|
0.00001
|
NM_006348.5(COG5):c.2149C>T (p.Arg717Trp)
|
rs939793014
|
0.00001
|
NM_006348.5(COG5):c.2150G>A (p.Arg717Gln)
|
rs373856634
|
0.00001
|
NM_006348.5(COG5):c.2173C>T (p.Leu725=)
|
rs547247532
|
0.00001
|
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser)
|
rs756618451
|
0.00001
|
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)
|
rs1135401817
|
0.00001
|
NM_006348.5(COG5):c.2295+13G>A
|
rs1026401988
|
0.00001
|
NM_006348.5(COG5):c.2296-15G>C
|
rs751658237
|
0.00001
|
NM_006348.5(COG5):c.2318G>A (p.Arg773His)
|
rs1221934619
|
0.00001
|
NM_006348.5(COG5):c.234+14T>C
|
rs553558599
|
0.00001
|
NM_006348.5(COG5):c.235-19A>G
|
rs948843542
|
0.00001
|
NM_006348.5(COG5):c.2449A>G (p.Met817Val)
|
rs1005257968
|
0.00001
|
NM_006348.5(COG5):c.2470G>T (p.Ala824Ser)
|
rs1798514537
|
0.00001
|
NM_006348.5(COG5):c.2477C>T (p.Ser826Phe)
|
rs1798513137
|
0.00001
|
NM_006348.5(COG5):c.347+19T>C
|
rs754323784
|
0.00001
|
NM_006348.5(COG5):c.348-13T>A
|
rs1416698251
|
0.00001
|
NM_006348.5(COG5):c.364G>A (p.Val122Ile)
|
rs759063795
|
0.00001
|
NM_006348.5(COG5):c.37C>T (p.Leu13Phe)
|
rs1429157275
|
0.00001
|
NM_006348.5(COG5):c.417+12C>A
|
rs757628356
|
0.00001
|
NM_006348.5(COG5):c.458A>G (p.Asn153Ser)
|
rs1800845136
|
0.00001
|
NM_006348.5(COG5):c.486G>A (p.Leu162=)
|
rs759656787
|
0.00001
|
NM_006348.5(COG5):c.492G>A (p.Gly164=)
|
rs1302971089
|
0.00001
|
NM_006348.5(COG5):c.495A>G (p.Gly165=)
|
rs1282017982
|
0.00001
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
NM_006348.5(COG5):c.60G>A (p.Ala20=)
|
rs374761349
|
0.00001
|
NM_006348.5(COG5):c.640C>A (p.Arg214Ser)
|
rs144485187
|
0.00001
|
NM_006348.5(COG5):c.670-16C>T
|
rs1189863857
|
0.00001
|
NM_006348.5(COG5):c.670-20C>G
|
rs761111529
|
0.00001
|
NM_006348.5(COG5):c.707A>G (p.Tyr236Cys)
|
rs777624889
|
0.00001
|
NM_006348.5(COG5):c.70A>G (p.Thr24Ala)
|
rs957736001
|
0.00001
|
NM_006348.5(COG5):c.784A>T (p.Ser262Cys)
|
rs770563311
|
0.00001
|
NM_006348.5(COG5):c.785G>A (p.Ser262Asn)
|
rs1814282526
|
0.00001
|
NM_006348.5(COG5):c.818C>G (p.Ser273Cys)
|
rs1202800081
|
0.00001
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
NM_006348.5(COG5):c.839G>T (p.Gly280Val)
|
rs138072101
|
0.00001
|
NM_006348.5(COG5):c.858G>A (p.Met286Ile)
|
rs1325740175
|
0.00001
|
NM_006348.5(COG5):c.880G>T (p.Ala294Ser)
|
rs745832481
|
0.00001
|
NM_006348.5(COG5):c.887G>A (p.Arg296His)
|
rs576854159
|
0.00001
|
NM_006348.5(COG5):c.94+10C>G
|
rs1243460444
|
0.00001
|
NM_006348.5(COG5):c.94+12G>T
|
rs781367888
|
0.00001
|
NM_006348.5(COG5):c.94+3A>G
|
rs374535796
|
0.00001
|
NM_006348.5(COG5):c.940T>C (p.Cys314Arg)
|
rs764832638
|
0.00001
|
NM_006348.5(COG5):c.949-17C>T
|
rs573722041
|
0.00001
|
NM_006348.5(COG5):c.951A>C (p.Val317=)
|
rs1365617209
|
0.00001
|
NM_006348.5(COG5):c.963A>G (p.Gln321=)
|
rs375846157
|
0.00001
|
NM_006348.5(COG5):c.976A>G (p.Lys326Glu)
|
rs988845762
|
0.00001
|
NC_000007.13:g.(?_106843961)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_106876875)_(107013225_?)dup
|
|
|
NC_000007.13:g.(?_106888821)_(106898848_?)dup
|
|
|
NC_000007.13:g.(?_106897157)_(106938811_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106924197_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106964986_?)dup
|
|
|
NC_000007.13:g.(?_106964865)_(106964986_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107052927)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107167662)_(107167822_?)del
|
|
|
NC_000007.14:g.107563921G>A
|
rs201256361
|
|
NC_000007.14:g.107563935G>A
|
rs1245430599
|
|
NC_000007.14:g.107563946G>A
|
rs934471777
|
|
NC_000007.14:g.107563946G>T
|
rs934471777
|
|
NC_000007.14:g.107563960del
|
rs1453226093
|
|
NM_006348.3(COG5):c.57T>C (p.Arg19=)
|
|
|
NM_006348.3(COG5):c.59_61CTG[2] (p.Ala22del)
|
|
|
NM_006348.3(COG5):c.62C>G (p.Ala21Gly)
|
|
|
NM_006348.3(COG5):c.66T>C (p.Ala22=)
|
|
|
NM_006348.3(COG5):c.69C>A (p.Asp23Glu)
|
|
|
NM_006348.5(COG5):c.*165C>T
|
rs1798496835
|
|
NM_006348.5(COG5):c.*220G>A
|
rs1281689688
|
|
NM_006348.5(COG5):c.*237T>C
|
rs577491628
|
|
NM_006348.5(COG5):c.*306C>A
|
rs1798486114
|
|
NM_006348.5(COG5):c.*468C>A
|
rs886061871
|
|
NM_006348.5(COG5):c.*498T>G
|
rs1798468428
|
|
NM_006348.5(COG5):c.*52G>A
|
rs937117794
|
|
NM_006348.5(COG5):c.*589G>A
|
rs1422526244
|
|
NM_006348.5(COG5):c.*612G>A
|
rs6958137
|
|
NM_006348.5(COG5):c.*612G>C
|
rs6958137
|
|
NM_006348.5(COG5):c.*862C>G
|
rs1258415041
|
|
NM_006348.5(COG5):c.-12G>A
|
rs1363800282
|
|
NM_006348.5(COG5):c.-13G>T
|
rs915925086
|
|
NM_006348.5(COG5):c.-1C>G
|
|
|
NM_006348.5(COG5):c.-20T>A
|
rs762377555
|
|
NM_006348.5(COG5):c.-2A>C
|
|
|
NM_006348.5(COG5):c.-8C>T
|
|
|
NM_006348.5(COG5):c.-9C>T
|
|
|
NM_006348.5(COG5):c.1014A>G (p.Glu338=)
|
|
|
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
|
|
|
NM_006348.5(COG5):c.1021G>A (p.Val341Ile)
|
|
|
NM_006348.5(COG5):c.1026+12G>A
|
rs1474242413
|
|
NM_006348.5(COG5):c.1026+17A>G
|
|
|
NM_006348.5(COG5):c.1027-11G>A
|
|
|
NM_006348.5(COG5):c.1027-12T>C
|
|
|
NM_006348.5(COG5):c.1027-16del
|
rs1165979060
|
|
NM_006348.5(COG5):c.1027-17T>C
|
|
|
NM_006348.5(COG5):c.1027G>T (p.Asp343Tyr)
|
rs1240588560
|
|
NM_006348.5(COG5):c.1055T>C (p.Phe352Ser)
|
rs2129027601
|
|
NM_006348.5(COG5):c.1069A>G (p.Thr357Ala)
|
rs1809589810
|
|
NM_006348.5(COG5):c.1072C>G (p.Gln358Glu)
|
|
|
NM_006348.5(COG5):c.1078C>G (p.Leu360Val)
|
rs762031095
|
|
NM_006348.5(COG5):c.1078C>T (p.Leu360Phe)
|
rs762031095
|
|
NM_006348.5(COG5):c.107A>G (p.Asp36Gly)
|
rs1385437505
|
|
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
|
|
|
NM_006348.5(COG5):c.1097T>C (p.Met366Thr)
|
|
|
NM_006348.5(COG5):c.1108+10C>G
|
|
|
NM_006348.5(COG5):c.1108+11T>C
|
|
|
NM_006348.5(COG5):c.1108+13C>T
|
rs772490075
|
|
NM_006348.5(COG5):c.1109-18T>C
|
|
|
NM_006348.5(COG5):c.1109-4G>A
|
|
|
NM_006348.5(COG5):c.1115_1123del (p.Met372_Leu374del)
|
|
|
NM_006348.5(COG5):c.1126C>G (p.Gln376Glu)
|
rs775852402
|
|
NM_006348.5(COG5):c.115A>G (p.Asn39Asp)
|
|
|
NM_006348.5(COG5):c.1165T>C (p.Tyr389His)
|
|
|
NM_006348.5(COG5):c.1170T>C (p.Asn390=)
|
rs1414561536
|
|
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter)
|
rs2116916717
|
|
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
|
|
|
NM_006348.5(COG5):c.118G>A (p.Glu40Lys)
|
rs781059953
|
|
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
|
|
|
NM_006348.5(COG5):c.1195T>C (p.Tyr399His)
|
|
|
NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys)
|
|
|
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)
|
rs1186766555
|
|
NM_006348.5(COG5):c.1224T>C (p.Asn408=)
|
|
|
NM_006348.5(COG5):c.1225G>A (p.Ala409Thr)
|
|
|
NM_006348.5(COG5):c.1227A>G (p.Ala409=)
|
|
|
NM_006348.5(COG5):c.1237A>G (p.Thr413Ala)
|
|
|
NM_006348.5(COG5):c.1239A>G (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1239A>T (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
|
|
|
NM_006348.5(COG5):c.1264A>G (p.Met422Val)
|
|
|
NM_006348.5(COG5):c.1266G>C (p.Met422Ile)
|
rs778784886
|
|
NM_006348.5(COG5):c.1281A>G (p.Gln427=)
|
|
|
NM_006348.5(COG5):c.1284T>C (p.Asp428=)
|
|
|
NM_006348.5(COG5):c.1294C>T (p.Pro432Ser)
|
|
|
NM_006348.5(COG5):c.12C>T (p.Gly4=)
|
rs1222798933
|
|
NM_006348.5(COG5):c.1302G>A (p.Lys434=)
|
rs200021706
|
|
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn)
|
rs200021706
|
|
NM_006348.5(COG5):c.1304C>G (p.Pro435Arg)
|
|
|
NM_006348.5(COG5):c.1305A>G (p.Pro435=)
|
rs929845700
|
|
NM_006348.5(COG5):c.1306G>A (p.Asp436Asn)
|
|
|
NM_006348.5(COG5):c.1310A>T (p.Tyr437Phe)
|
rs2116915449
|
|
NM_006348.5(COG5):c.1313+14A>G
|
|
|
NM_006348.5(COG5):c.1313+4T>C
|
|
|
NM_006348.5(COG5):c.1313_1313+5del
|
|
|
NM_006348.5(COG5):c.1314-15dup
|
|
|
NM_006348.5(COG5):c.1314-4A>G
|
rs2116814535
|
|
NM_006348.5(COG5):c.1314-6C>A
|
|
|
NM_006348.5(COG5):c.1326T>A (p.Ala442=)
|
|
|
NM_006348.5(COG5):c.1340T>G (p.Leu447Arg)
|
|
|
NM_006348.5(COG5):c.1341A>G (p.Leu447=)
|
|
|
NM_006348.5(COG5):c.1344A>G (p.Gln448=)
|
rs777072585
|
|
NM_006348.5(COG5):c.1350T>C (p.Tyr450=)
|
rs1805375974
|
|
NM_006348.5(COG5):c.1353G>A (p.Glu451=)
|
|
|
NM_006348.5(COG5):c.1365A>G (p.Leu455=)
|
|
|
NM_006348.5(COG5):c.137C>T (p.Thr46Ile)
|
rs542344548
|
|
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
|
|
|
NM_006348.5(COG5):c.1412C>T (p.Pro471Leu)
|
rs2116813555
|
|
NM_006348.5(COG5):c.1415dup (p.Gly474fs)
|
rs773281248
|
|
NM_006348.5(COG5):c.1417G>A (p.Gly473Ser)
|
|
|
NM_006348.5(COG5):c.1421G>T (p.Gly474Val)
|
|
|
NM_006348.5(COG5):c.1430C>G (p.Pro477Arg)
|
rs1805365099
|
|
NM_006348.5(COG5):c.1450G>C (p.Asp484His)
|
|
|
NM_006348.5(COG5):c.1471G>A (p.Ala491Thr)
|
|
|
NM_006348.5(COG5):c.1475+3A>G
|
|
|
NM_006348.5(COG5):c.1476-14T>G
|
|
|
NM_006348.5(COG5):c.1476-19C>T
|
rs562431916
|
|
NM_006348.5(COG5):c.1476-4C>T
|
|
|
NM_006348.5(COG5):c.1476-7dup
|
rs774912830
|
|
NM_006348.5(COG5):c.1482A>G (p.Leu494=)
|
|
|
NM_006348.5(COG5):c.1485T>C (p.Asn495=)
|
|
|
NM_006348.5(COG5):c.150A>G (p.Gln50=)
|
|
|
NM_006348.5(COG5):c.1511C>T (p.Thr504Ile)
|
|
|
NM_006348.5(COG5):c.1534G>A (p.Ala512Thr)
|
|
|
NM_006348.5(COG5):c.1539G>C (p.Lys513Asn)
|
rs1805147503
|
|
NM_006348.5(COG5):c.1541C>T (p.Thr514Ile)
|
rs2116796211
|
|
NM_006348.5(COG5):c.1552T>C (p.Tyr518His)
|
rs776229547
|
|
NM_006348.5(COG5):c.1554C>T (p.Tyr518=)
|
|
|
NM_006348.5(COG5):c.1556G>C (p.Ser519Thr)
|
rs2116796050
|
|
NM_006348.5(COG5):c.1558G>A (p.Val520Ile)
|
rs2116795993
|
|
NM_006348.5(COG5):c.1561A>G (p.Lys521Glu)
|
rs768443334
|
|
NM_006348.5(COG5):c.1566A>G (p.Ser522=)
|
|
|
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
|
|
|
NM_006348.5(COG5):c.1575+13_1575+16del
|
|
|
NM_006348.5(COG5):c.15C>T (p.Gly5=)
|
rs202123650
|
|
NM_006348.5(COG5):c.165T>C (p.Ala55=)
|
rs2129179500
|
|
NM_006348.5(COG5):c.166G>A (p.Val56Ile)
|
|
|
NM_006348.5(COG5):c.1687-7G>A
|
rs1265604878
|
|
NM_006348.5(COG5):c.1694C>T (p.Ser565Phe)
|
|
|
NM_006348.5(COG5):c.1695C>T (p.Ser565=)
|
|
|
NM_006348.5(COG5):c.1719A>G (p.Ala573=)
|
rs1802913835
|
|
NM_006348.5(COG5):c.1724A>T (p.Glu575Val)
|
|
|
NM_006348.5(COG5):c.1736T>C (p.Ile579Thr)
|
rs753306021
|
|
NM_006348.5(COG5):c.1744C>G (p.Leu582Val)
|
|
|
NM_006348.5(COG5):c.1746A>G (p.Leu582=)
|
|
|
NM_006348.5(COG5):c.1748A>G (p.Lys583Arg)
|
rs1198193243
|
|
NM_006348.5(COG5):c.1749+7G>T
|
|
|
NM_006348.5(COG5):c.1750-13T>A
|
|
|
NM_006348.5(COG5):c.1750-19del
|
|
|
NM_006348.5(COG5):c.1750-20T>G
|
|
|
NM_006348.5(COG5):c.1750-20dup
|
rs763434588
|
|
NM_006348.5(COG5):c.1750-3del
|
|
|
NM_006348.5(COG5):c.1750-3dup
|
rs746706902
|
|
NM_006348.5(COG5):c.1766T>A (p.Met589Lys)
|
rs777200785
|
|
NM_006348.5(COG5):c.1773T>C (p.Asn591=)
|
rs1261977502
|
|
NM_006348.5(COG5):c.1776T>A (p.Ala592=)
|
|
|
NM_006348.5(COG5):c.1779G>T (p.Val593=)
|
rs2116550198
|
|
NM_006348.5(COG5):c.1783C>A (p.Pro595Thr)
|
rs1802220416
|
|
NM_006348.5(COG5):c.1783C>G (p.Pro595Ala)
|
rs1802220416
|
|
NM_006348.5(COG5):c.178C>A (p.Gln60Lys)
|
|
|
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs)
|
rs771651520
|
|
NM_006348.5(COG5):c.1792A>C (p.Thr598Pro)
|
|
|
NM_006348.5(COG5):c.1808C>T (p.Ala603Val)
|
|
|
NM_006348.5(COG5):c.180A>G (p.Gln60=)
|
rs1803456564
|
|
NM_006348.5(COG5):c.1831A>G (p.Met611Val)
|
|
|
NM_006348.5(COG5):c.1839A>G (p.Gln613=)
|
|
|
NM_006348.5(COG5):c.1841A>G (p.Glu614Gly)
|
|
|
NM_006348.5(COG5):c.1854-16G>A
|
|
|
NM_006348.5(COG5):c.1869A>G (p.Ser623=)
|
|
|
NM_006348.5(COG5):c.1869A>T (p.Ser623=)
|
rs200289261
|
|
NM_006348.5(COG5):c.1896G>A (p.Leu632=)
|
|
|
NM_006348.5(COG5):c.18C>T (p.Gly6=)
|
rs776167636
|
|
NM_006348.5(COG5):c.1900A>T (p.Met634Leu)
|
rs746657630
|
|
NM_006348.5(COG5):c.1901T>C (p.Met634Thr)
|
rs1038024684
|
|
NM_006348.5(COG5):c.1902_1904delinsCTT (p.Met634_Lys635delinsIleLeu)
|
|
|
NM_006348.5(COG5):c.1911A>G (p.Leu637=)
|
|
|
NM_006348.5(COG5):c.1914A>G (p.Gln638=)
|
|
|
NM_006348.5(COG5):c.1916G>A (p.Gly639Asp)
|
rs757204685
|
|
NM_006348.5(COG5):c.1916G>T (p.Gly639Val)
|
|
|
NM_006348.5(COG5):c.192T>C (p.Leu64=)
|
|
|
NM_006348.5(COG5):c.193G>T (p.Ala65Ser)
|
|
|
NM_006348.5(COG5):c.1952A>C (p.His651Pro)
|
|
|
NM_006348.5(COG5):c.1993A>G (p.Ile665Val)
|
rs1262175069
|
|
NM_006348.5(COG5):c.1A>G (p.Met1Val)
|
rs1804241289
|
|
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp)
|
rs778785040
|
|
NM_006348.5(COG5):c.2038A>G (p.Ile680Val)
|
|
|
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu)
|
rs777624204
|
|
NM_006348.5(COG5):c.2056G>C (p.Gly686Arg)
|
rs2116455775
|
|
NM_006348.5(COG5):c.2067G>T (p.Met689Ile)
|
rs2116455716
|
|
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
|
|
|
NM_006348.5(COG5):c.2078C>T (p.Ala693Val)
|
rs751843896
|
|
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu)
|
rs1031677638
|
|
NM_006348.5(COG5):c.2091+4_2091+11del
|
|
|
NM_006348.5(COG5):c.2091+6T>C
|
|
|
NM_006348.5(COG5):c.2092-15A>G
|
|
|
NM_006348.5(COG5):c.2092-17A>G
|
|
|
NM_006348.5(COG5):c.2098T>C (p.Leu700=)
|
rs757640217
|
|
NM_006348.5(COG5):c.2101G>A (p.Ala701Thr)
|
rs2116403733
|
|
NM_006348.5(COG5):c.2104G>C (p.Val702Leu)
|
rs398124222
|
|
NM_006348.5(COG5):c.2112A>C (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2112A>G (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2115C>T (p.Phe705=)
|
|
|
NM_006348.5(COG5):c.2129_2131del (p.Ser710_Asp711delinsTyr)
|
rs2116403276
|
|
NM_006348.5(COG5):c.2151G>C (p.Arg717=)
|
|
|
NM_006348.5(COG5):c.2152A>T (p.Met718Leu)
|
rs113517604
|
|
NM_006348.5(COG5):c.2167del (p.Arg723fs)
|
rs2116402799
|
|
NM_006348.5(COG5):c.2168+2T>A
|
|
|
NM_006348.5(COG5):c.2168+8C>A
|
|
|
NM_006348.5(COG5):c.2168G>A (p.Arg723Lys)
|
|
|
NM_006348.5(COG5):c.2169-10del
|
rs763138814
|
|
NM_006348.5(COG5):c.2169-17_2169-16del
|
|
|
NM_006348.5(COG5):c.2175G>A (p.Leu725=)
|
|
|
NM_006348.5(COG5):c.2186C>G (p.Ala729Gly)
|
|
|
NM_006348.5(COG5):c.2194C>T (p.His732Tyr)
|
rs746743097
|
|
NM_006348.5(COG5):c.2196T>C (p.His732=)
|
|
|
NM_006348.5(COG5):c.2202C>T (p.Ala734=)
|
|
|
NM_006348.5(COG5):c.2204G>T (p.Ser735Ile)
|
rs150808289
|
|
NM_006348.5(COG5):c.220G>T (p.Glu74Ter)
|
rs1803451815
|
|
NM_006348.5(COG5):c.2214A>T (p.Ala738=)
|
|
|
NM_006348.5(COG5):c.2215T>A (p.Leu739Met)
|
rs374796275
|
|
NM_006348.5(COG5):c.2219G>A (p.Gly740Glu)
|
|
|
NM_006348.5(COG5):c.2221G>C (p.Asp741His)
|
rs114023726
|
|
NM_006348.5(COG5):c.2234dup (p.Ser746fs)
|
rs2116202376
|
|
NM_006348.5(COG5):c.2241C>T (p.Ile747=)
|
|
|
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)
|
rs751641438
|
|
NM_006348.5(COG5):c.2244T>C (p.Ile748=)
|
|
|
NM_006348.5(COG5):c.2259C>T (p.Phe753=)
|
|
|
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter)
|
rs2116201860
|
|
NM_006348.5(COG5):c.2274T>G (p.Ala758=)
|
|
|
NM_006348.5(COG5):c.2280G>C (p.Leu760=)
|
|
|
NM_006348.5(COG5):c.2283A>G (p.Lys761=)
|
|
|
NM_006348.5(COG5):c.2295+20C>A
|
|
|
NM_006348.5(COG5):c.2295G>T (p.Gln765His)
|
rs1212652543
|
|
NM_006348.5(COG5):c.2296-17G>A
|
|
|
NM_006348.5(COG5):c.2296-18T>C
|
|
|
NM_006348.5(COG5):c.2296-4G>T
|
|
|
NM_006348.5(COG5):c.2296-6C>G
|
|
|
NM_006348.5(COG5):c.2296-7C>G
|
rs778380856
|
|
NM_006348.5(COG5):c.2296-7C>T
|
|
|
NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)
|
|
|
NM_006348.5(COG5):c.2309C>T (p.Ser770Phe)
|
|
|
NM_006348.5(COG5):c.2335G>A (p.Asp779Asn)
|
|
|
NM_006348.5(COG5):c.234+18G>C
|
rs2129179413
|
|
NM_006348.5(COG5):c.234+9G>T
|
|
|
NM_006348.5(COG5):c.2346A>T (p.Pro782=)
|
rs2116193767
|
|
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro)
|
rs773449359
|
|
NM_006348.5(COG5):c.235-10dup
|
rs778522810
|
|
NM_006348.5(COG5):c.235-15A>G
|
|
|
NM_006348.5(COG5):c.235-20C>A
|
|
|
NM_006348.5(COG5):c.235-20_235-18del
|
|
|
NM_006348.5(COG5):c.235-9G>T
|
|
|
NM_006348.5(COG5):c.2352A>T (p.Glu784Asp)
|
rs2116193691
|
|
NM_006348.5(COG5):c.2360G>T (p.Arg787Met)
|
rs761946629
|
|
NM_006348.5(COG5):c.2361G>A (p.Arg787=)
|
|
|
NM_006348.5(COG5):c.2364C>T (p.Leu788=)
|
rs2116193413
|
|
NM_006348.5(COG5):c.2375+12T>C
|
|
|
NM_006348.5(COG5):c.2375+15T>C
|
|
|
NM_006348.5(COG5):c.2375+7C>T
|
|
|
NM_006348.5(COG5):c.2375G>A (p.Arg792Lys)
|
rs2116193173
|
|
NM_006348.5(COG5):c.2376-20_2376-17dup
|
|
|
NM_006348.5(COG5):c.237del (p.Val80fs)
|
rs1330009938
|
|
NM_006348.5(COG5):c.2390C>G (p.Ala797Gly)
|
rs1228532042
|
|
NM_006348.5(COG5):c.2390C>T (p.Ala797Val)
|
rs1228532042
|
|
NM_006348.5(COG5):c.2399A>G (p.Gln800Arg)
|
rs762082725
|
|
NM_006348.5(COG5):c.2412T>C (p.Ser804=)
|
|
|
NM_006348.5(COG5):c.2415A>T (p.Arg805Ser)
|
|
|
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)
|
rs1798520770
|
|
NM_006348.5(COG5):c.2433A>T (p.Ala811=)
|
rs775853693
|
|
NM_006348.5(COG5):c.244A>G (p.Arg82Gly)
|
|
|
NM_006348.5(COG5):c.2452G>C (p.Val818Leu)
|
rs2116084715
|
|
NM_006348.5(COG5):c.2456A>G (p.Gln819Arg)
|
rs34100214
|
|
NM_006348.5(COG5):c.2458C>T (p.Leu820=)
|
|
|
NM_006348.5(COG5):c.2473A>C (p.Met825Leu)
|
rs2116084157
|
|
NM_006348.5(COG5):c.2473_2474del (p.Met825fs)
|
rs777167502
|
|
NM_006348.5(COG5):c.2481T>A (p.Ala827=)
|
|
|
NM_006348.5(COG5):c.2481T>C (p.Ala827=)
|
rs563267149
|
|
NM_006348.5(COG5):c.2482C>T (p.Leu828Phe)
|
|
|
NM_006348.5(COG5):c.2483T>G (p.Leu828Arg)
|
|
|
NM_006348.5(COG5):c.24C>A (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>G (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>T (p.Val8=)
|
|
|
NM_006348.5(COG5):c.270A>G (p.Ala90=)
|
|
|
NM_006348.5(COG5):c.285G>A (p.Ser95=)
|
rs746581392
|
|
NM_006348.5(COG5):c.292+10T>C
|
|
|
NM_006348.5(COG5):c.292+6_292+14del
|
|
|
NM_006348.5(COG5):c.293-11T>C
|
|
|
NM_006348.5(COG5):c.293-12_293-11del
|
|
|
NM_006348.5(COG5):c.29T>A (p.Val10Glu)
|
|
|
NM_006348.5(COG5):c.29T>C (p.Val10Ala)
|
|
|
NM_006348.5(COG5):c.2T>C (p.Met1Thr)
|
rs375702393
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006348.5(COG5):c.30A>C (p.Val10=)
|
|
|
NM_006348.5(COG5):c.30A>G (p.Val10=)
|
|
|
NM_006348.5(COG5):c.30_36del (p.Ala11fs)
|
rs2129184409
|
|
NM_006348.5(COG5):c.315G>A (p.Thr105=)
|
|
|
NM_006348.5(COG5):c.320T>C (p.Ile107Thr)
|
|
|
NM_006348.5(COG5):c.326C>T (p.Ala109Val)
|
rs758820507
|
|
NM_006348.5(COG5):c.332A>T (p.Gln111Leu)
|
rs1437532814
|
|
NM_006348.5(COG5):c.347+6G>A
|
|
|
NM_006348.5(COG5):c.347+8T>A
|
rs1802611356
|
|
NM_006348.5(COG5):c.347G>C (p.Arg116Thr)
|
rs1802613005
|
|
NM_006348.5(COG5):c.348-19dup
|
|
|
NM_006348.5(COG5):c.348-9_348-8del
|
|
|
NM_006348.5(COG5):c.372A>G (p.Pro124=)
|
|
|
NM_006348.5(COG5):c.376A>C (p.Asn126His)
|
rs1802592284
|
|
NM_006348.5(COG5):c.387T>C (p.Val129=)
|
|
|
NM_006348.5(COG5):c.396T>C (p.Thr132=)
|
|
|
NM_006348.5(COG5):c.39C>T (p.Leu13=)
|
|
|
NM_006348.5(COG5):c.411A>G (p.Arg137=)
|
rs747083048
|
|
NM_006348.5(COG5):c.417+11A>T
|
|
|
NM_006348.5(COG5):c.417+15T>C
|
|
|
NM_006348.5(COG5):c.417+4G>C
|
|
|
NM_006348.5(COG5):c.417+8C>T
|
|
|
NM_006348.5(COG5):c.418-17T>C
|
|
|
NM_006348.5(COG5):c.418-1G>T
|
|
|
NM_006348.5(COG5):c.418-2A>C
|
|
|
NM_006348.5(COG5):c.418-4A>G
|
|
|
NM_006348.5(COG5):c.42A>T (p.Gly14=)
|
|
|
NM_006348.5(COG5):c.434T>G (p.Leu145Arg)
|
|
|
NM_006348.5(COG5):c.436C>T (p.Arg146Trp)
|
|
|
NM_006348.5(COG5):c.437G>A (p.Arg146Gln)
|
|
|
NM_006348.5(COG5):c.437G>C (p.Arg146Pro)
|
|
|
NM_006348.5(COG5):c.43G>C (p.Ala15Pro)
|
|
|
NM_006348.5(COG5):c.442A>G (p.Ile148Val)
|
|
|
NM_006348.5(COG5):c.44C>G (p.Ala15Gly)
|
rs1804227263
|
|
NM_006348.5(COG5):c.452_453delinsAA (p.Ile151Lys)
|
rs2129156929
|
|
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu)
|
rs1800843840
|
|
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
|
|
|
NM_006348.5(COG5):c.47G>A (p.Arg16Gln)
|
rs781711867
|
|
NM_006348.5(COG5):c.482A>G (p.Gln161Arg)
|
rs141580311
|
|
NM_006348.5(COG5):c.487C>T (p.Gln163Ter)
|
rs1231928102
|
|
NM_006348.5(COG5):c.513A>G (p.Lys171=)
|
rs1178585946
|
|
NM_006348.5(COG5):c.519T>C (p.Ala173=)
|
|
|
NM_006348.5(COG5):c.51C>T (p.Gly17=)
|
|
|
NM_006348.5(COG5):c.534A>G (p.Glu178=)
|
rs765689232
|
|
NM_006348.5(COG5):c.538+20del
|
rs201626701
|
|
NM_006348.5(COG5):c.538+5G>T
|
|
|
NM_006348.5(COG5):c.538+6dup
|
rs201626701
|
|
NM_006348.5(COG5):c.539-18T>C
|
|
|
NM_006348.5(COG5):c.539-2A>G
|
|
|
NM_006348.5(COG5):c.542A>G (p.Tyr181Cys)
|
|
|
NM_006348.5(COG5):c.548C>G (p.Ser183Cys)
|
|
|
NM_006348.5(COG5):c.556A>G (p.Ile186Val)
|
|
|
NM_006348.5(COG5):c.557T>C (p.Ile186Thr)
|
rs2129067260
|
|
NM_006348.5(COG5):c.563T>C (p.Leu188Pro)
|
rs1563018594
|
|
NM_006348.5(COG5):c.571A>G (p.Ile191Val)
|
|
|
NM_006348.5(COG5):c.575A>G (p.Glu192Gly)
|
|
|
NM_006348.5(COG5):c.585A>G (p.Glu195=)
|
|
|
NM_006348.5(COG5):c.590A>T (p.Asp197Val)
|
|
|
NM_006348.5(COG5):c.591T>A (p.Asp197Glu)
|
|
|
NM_006348.5(COG5):c.592C>T (p.Leu198=)
|
|
|
NM_006348.5(COG5):c.594A>C (p.Leu198=)
|
|
|
NM_006348.5(COG5):c.5A>G (p.Glu2Gly)
|
|
|
NM_006348.5(COG5):c.610G>A (p.Ala204Thr)
|
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.612C>T (p.Ala204=)
|
rs1792383808
|
|
NM_006348.5(COG5):c.616C>T (p.Leu206Phe)
|
rs1792382468
|
|
NM_006348.5(COG5):c.628A>T (p.Asn210Tyr)
|
rs2129067191
|
|
NM_006348.5(COG5):c.638A>G (p.Lys213Arg)
|
|
|
NM_006348.5(COG5):c.640C>T (p.Arg214Cys)
|
rs144485187
|
|
NM_006348.5(COG5):c.646C>G (p.Leu216Val)
|
rs1584789628
|
|
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
|
|
|
NM_006348.5(COG5):c.656G>T (p.Gly219Val)
|
rs760642504
|
|
NM_006348.5(COG5):c.660G>A (p.Leu220=)
|
|
|
NM_006348.5(COG5):c.666T>C (p.Thr222=)
|
|
|
NM_006348.5(COG5):c.669+10A>G
|
rs886061874
|
|
NM_006348.5(COG5):c.669+18_669+19del
|
rs10579767
|
|
NM_006348.5(COG5):c.669+1G>T
|
rs1792377306
|
|
NM_006348.5(COG5):c.669+5_669+7del
|
rs757035635
|
|
NM_006348.5(COG5):c.669+9A>C
|
rs774414370
|
|
NM_006348.5(COG5):c.669+9A>T
|
rs774414370
|
|
NM_006348.5(COG5):c.670-19C>T
|
|
|
NM_006348.5(COG5):c.670-25CCACC[4]
|
rs1814298466
|
|
NM_006348.5(COG5):c.670-4dup
|
|
|
NM_006348.5(COG5):c.670-9T>G
|
rs565990382
|
|
NM_006348.5(COG5):c.672T>C (p.Asn224=)
|
rs2129050171
|
|
NM_006348.5(COG5):c.676A>G (p.Thr226Ala)
|
|
|
NM_006348.5(COG5):c.682G>C (p.Val228Leu)
|
|
|
NM_006348.5(COG5):c.686G>A (p.Gly229Glu)
|
|
|
NM_006348.5(COG5):c.68C>G (p.Ala23Gly)
|
rs2129184361
|
|
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
|
|
|
NM_006348.5(COG5):c.697del (p.Gln233fs)
|
|
|
NM_006348.5(COG5):c.729_730dup (p.Thr244fs)
|
rs1289836014
|
|
NM_006348.5(COG5):c.739A>G (p.Ser247Gly)
|
rs1261586682
|
|
NM_006348.5(COG5):c.747G>T (p.Val249=)
|
|
|
NM_006348.5(COG5):c.762T>A (p.Ala254=)
|
|
|
NM_006348.5(COG5):c.767T>C (p.Leu256Ser)
|
|
|
NM_006348.5(COG5):c.776A>G (p.Asn259Ser)
|
rs2129050118
|
|
NM_006348.5(COG5):c.780C>A (p.Ile260=)
|
|
|
NM_006348.5(COG5):c.780C>T (p.Ile260=)
|
rs764388205
|
|
NM_006348.5(COG5):c.787G>A (p.Ala263Thr)
|
|
|
NM_006348.5(COG5):c.802G>T (p.Val268Phe)
|
rs2129050098
|
|
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
|
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006348.5(COG5):c.826G>A (p.Ala276Thr)
|
rs2129050090
|
|
NM_006348.5(COG5):c.827C>G (p.Ala276Gly)
|
rs2129050089
|
|
NM_006348.5(COG5):c.82C>A (p.Leu28Ile)
|
|
|
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
|
|
|
NM_006348.5(COG5):c.835+12G>A
|
|
|
NM_006348.5(COG5):c.835+4T>C
|
rs915388047
|
|
NM_006348.5(COG5):c.835+6G>A
|
rs2129050084
|
|
NM_006348.5(COG5):c.835+8T>C
|
rs2129050082
|
|
NM_006348.5(COG5):c.836-11C>T
|
rs886061873
|
|
NM_006348.5(COG5):c.837G>C (p.Gly279=)
|
|
|
NM_006348.5(COG5):c.839G>A (p.Gly280Glu)
|
rs138072101
|
|
NM_006348.5(COG5):c.846A>G (p.Gly282=)
|
|
|
NM_006348.5(COG5):c.851C>G (p.Ser284Cys)
|
|
|
NM_006348.5(COG5):c.852T>C (p.Ser284=)
|
rs2129046289
|
|
NM_006348.5(COG5):c.856_857delinsTG (p.Met286Trp)
|
rs2129046287
|
|
NM_006348.5(COG5):c.878C>T (p.Ala293Val)
|
rs2129046276
|
|
NM_006348.5(COG5):c.906T>C (p.Asn302=)
|
|
|
NM_006348.5(COG5):c.924T>C (p.Asp308=)
|
|
|
NM_006348.5(COG5):c.936del (p.Val313fs)
|
|
|
NM_006348.5(COG5):c.93C>T (p.Asp31=)
|
|
|
NM_006348.5(COG5):c.94+14del
|
rs1263454350
|
|
NM_006348.5(COG5):c.94+8G>A
|
|
|
NM_006348.5(COG5):c.941G>T (p.Cys314Phe)
|
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
NM_006348.5(COG5):c.95-12T>G
|
|
|
NM_006348.5(COG5):c.95-12del
|
rs2129179571
|
|
NM_006348.5(COG5):c.95-17T>A
|
|
|
NM_006348.5(COG5):c.95-5T>A
|
|
|
NM_006348.5(COG5):c.955_963del (p.His319_Gln321del)
|
rs2129046150
|
|
NM_006348.5(COG5):c.958C>A (p.Leu320Ile)
|
rs2129046155
|
|
NM_006348.5(COG5):c.959T>C (p.Leu320Pro)
|
rs1584729488
|
|
NM_006348.5(COG5):c.961C>T (p.Gln321Ter)
|
rs370028534
|
|
NM_006348.5(COG5):c.96del (p.Cys33Valfs)
|
rs1554464495
|
|
NM_006348.5(COG5):c.977A>G (p.Lys326Arg)
|
rs1214496373
|
|
NM_006348.5(COG5):c.981G>A (p.Lys327=)
|
|
|
NM_006348.5(COG5):c.99T>C (p.Cys33=)
|
|
|