NM_032888.4(COL27A1):c.408C>T (p.Val136=)
|
rs146589272
|
0.00622
|
NM_032888.4(COL27A1):c.5058C>T (p.Pro1686=)
|
rs41278651
|
0.00381
|
NM_032888.4(COL27A1):c.2988G>A (p.Met996Ile)
|
rs143876527
|
0.00271
|
NM_032888.4(COL27A1):c.1310C>T (p.Pro437Leu)
|
rs139358226
|
0.00258
|
NM_032888.4(COL27A1):c.1655G>A (p.Arg552Gln)
|
rs148833602
|
0.00185
|
NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln)
|
rs149629527
|
0.00184
|
NM_032888.4(COL27A1):c.2858C>T (p.Pro953Leu)
|
rs41277743
|
0.00177
|
NM_032888.4(COL27A1):c.619G>A (p.Val207Ile)
|
rs143912297
|
0.00163
|
NM_032888.4(COL27A1):c.3535C>G (p.Gln1179Glu)
|
rs114770711
|
0.00152
|
NM_032888.4(COL27A1):c.3715C>T (p.Arg1239Trp)
|
rs143724625
|
0.00108
|
NM_032888.4(COL27A1):c.397G>A (p.Gly133Ser)
|
rs146793976
|
0.00091
|
NM_032888.4(COL27A1):c.276C>T (p.Ala92=)
|
rs142192832
|
0.00085
|
NM_032888.4(COL27A1):c.3281G>A (p.Arg1094Gln)
|
rs140192759
|
0.00063
|
NM_032888.4(COL27A1):c.3524C>A (p.Thr1175Asn)
|
rs139237104
|
0.00063
|
NM_032888.4(COL27A1):c.4904C>T (p.Thr1635Met)
|
rs149110795
|
0.00055
|
NM_032888.4(COL27A1):c.3092A>G (p.His1031Arg)
|
rs7038559
|
0.00054
|
NM_032888.4(COL27A1):c.5217+12C>T
|
rs141796506
|
0.00045
|
NM_032888.4(COL27A1):c.2301G>A (p.Leu767=)
|
rs148061840
|
0.00043
|
NM_032888.4(COL27A1):c.3690C>T (p.Pro1230=)
|
rs79011279
|
0.00043
|
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)
|
rs372265305
|
0.00041
|
NM_032888.4(COL27A1):c.947G>A (p.Gly316Asp)
|
rs113786411
|
0.00041
|
NM_032888.4(COL27A1):c.1076T>C (p.Ile359Thr)
|
rs145777803
|
0.00039
|
NM_032888.4(COL27A1):c.36A>G (p.Thr12=)
|
rs982589829
|
0.00039
|
NM_032888.4(COL27A1):c.2724C>T (p.Pro908=)
|
rs142957409
|
0.00038
|
NM_032888.4(COL27A1):c.4728C>T (p.Leu1576=)
|
rs141655747
|
0.00036
|
NM_032888.4(COL27A1):c.4836C>T (p.Pro1612=)
|
rs142505089
|
0.00033
|
NM_032888.4(COL27A1):c.133+9C>G
|
rs147411821
|
0.00031
|
NM_032888.4(COL27A1):c.1829C>T (p.Ser610Leu)
|
rs144786117
|
0.00031
|
NM_032888.4(COL27A1):c.2323-8C>T
|
rs376355086
|
0.00031
|
NM_032888.4(COL27A1):c.2524C>T (p.Leu842=)
|
rs149837237
|
0.00031
|
NM_032888.4(COL27A1):c.863C>A (p.Pro288His)
|
rs376805833
|
0.00030
|
NM_032888.4(COL27A1):c.1602G>C (p.Lys534Asn)
|
rs142652014
|
0.00029
|
NM_032888.4(COL27A1):c.63-4C>A
|
rs200654328
|
0.00028
|
NM_032888.4(COL27A1):c.3196-20G>A
|
rs368497374
|
0.00027
|
NM_032888.4(COL27A1):c.2856G>A (p.Gly952=)
|
rs140149941
|
0.00026
|
NM_032888.4(COL27A1):c.3934-6C>G
|
rs374167148
|
0.00026
|
NM_032888.4(COL27A1):c.428G>A (p.Arg143His)
|
rs377686014
|
0.00025
|
NM_032888.4(COL27A1):c.612G>A (p.Pro204=)
|
rs147140199
|
0.00025
|
NM_032888.4(COL27A1):c.4320C>T (p.Ile1440=)
|
rs201732921
|
0.00021
|
NM_032888.4(COL27A1):c.4939-7G>A
|
rs369108345
|
0.00021
|
NM_032888.4(COL27A1):c.3276G>A (p.Pro1092=)
|
rs140175927
|
0.00019
|
NM_032888.4(COL27A1):c.2169+20C>T
|
rs202119417
|
0.00017
|
NM_032888.4(COL27A1):c.4494C>T (p.Pro1498=)
|
rs145117909
|
0.00017
|
NM_032888.4(COL27A1):c.2444C>T (p.Pro815Leu)
|
rs745566747
|
0.00016
|
NM_032888.4(COL27A1):c.2832C>T (p.Pro944=)
|
rs146710122
|
0.00016
|
NM_032888.4(COL27A1):c.399C>A (p.Gly133=)
|
rs140539074
|
0.00016
|
NM_032888.4(COL27A1):c.4476+20A>C
|
rs530838223
|
0.00016
|
NM_032888.4(COL27A1):c.1502C>T (p.Thr501Ile)
|
rs576505138
|
0.00015
|
NM_032888.4(COL27A1):c.3056C>A (p.Pro1019His)
|
rs529922047
|
0.00015
|
NM_032888.4(COL27A1):c.1653C>T (p.Pro551=)
|
rs200891723
|
0.00014
|
NM_032888.4(COL27A1):c.5197A>G (p.Lys1733Glu)
|
rs148068880
|
0.00014
|
NM_032888.4(COL27A1):c.570A>G (p.Ala190=)
|
rs138532151
|
0.00013
|
NM_032888.4(COL27A1):c.3064G>A (p.Val1022Met)
|
rs141446597
|
0.00012
|
NM_032888.4(COL27A1):c.672C>T (p.Val224=)
|
rs374669935
|
0.00012
|
NM_032888.4(COL27A1):c.739G>A (p.Gly247Arg)
|
rs144068722
|
0.00012
|
NM_032888.4(COL27A1):c.3716G>A (p.Arg1239Gln)
|
rs148109242
|
0.00011
|
NM_032888.4(COL27A1):c.932A>G (p.His311Arg)
|
rs374532154
|
0.00011
|
NM_032888.4(COL27A1):c.938C>T (p.Ala313Val)
|
rs779082252
|
0.00011
|
NM_032888.4(COL27A1):c.20G>T (p.Arg7Leu)
|
rs558566848
|
0.00010
|
NM_032888.4(COL27A1):c.304C>T (p.Leu102=)
|
rs369829082
|
0.00010
|
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr)
|
rs146162741
|
0.00010
|
NM_032888.4(COL27A1):c.4539G>A (p.Thr1513=)
|
rs138940294
|
0.00010
|
NM_032888.4(COL27A1):c.4761G>A (p.Pro1587=)
|
rs144269050
|
0.00010
|
NM_032888.4(COL27A1):c.5517C>T (p.Asp1839=)
|
rs144613533
|
0.00010
|
NM_032888.4(COL27A1):c.133+17T>C
|
rs764327380
|
0.00009
|
NM_032888.4(COL27A1):c.1782G>A (p.Pro594=)
|
rs541446954
|
0.00009
|
NM_032888.4(COL27A1):c.1890G>A (p.Lys630=)
|
rs372788077
|
0.00009
|
NM_032888.4(COL27A1):c.2031C>T (p.Asp677=)
|
rs375942807
|
0.00009
|
NM_032888.4(COL27A1):c.2466+10T>C
|
rs374540360
|
0.00009
|
NM_032888.4(COL27A1):c.2661G>A (p.Lys887=)
|
rs768337703
|
0.00009
|
NM_032888.4(COL27A1):c.2865G>C (p.Gly955=)
|
rs138017693
|
0.00009
|
NM_032888.4(COL27A1):c.4968G>A (p.Leu1656=)
|
rs138859831
|
0.00009
|
NM_032888.4(COL27A1):c.989G>A (p.Ser330Asn)
|
rs577008971
|
0.00009
|
NM_032888.4(COL27A1):c.1635C>T (p.Ala545=)
|
rs552089615
|
0.00008
|
NM_032888.4(COL27A1):c.3568C>T (p.Leu1190Phe)
|
rs748068839
|
0.00008
|
NM_032888.4(COL27A1):c.4261-5C>T
|
rs1022357631
|
0.00008
|
NM_032888.4(COL27A1):c.4682G>A (p.Arg1561Gln)
|
rs748090537
|
0.00008
|
NM_032888.4(COL27A1):c.961C>T (p.Pro321Ser)
|
rs781383926
|
0.00008
|
NM_032888.4(COL27A1):c.2835+6A>G
|
rs749800594
|
0.00007
|
NM_032888.4(COL27A1):c.3933+10T>A
|
rs752657028
|
0.00007
|
NM_032888.4(COL27A1):c.722C>T (p.Thr241Met)
|
rs148448277
|
0.00007
|
NM_032888.4(COL27A1):c.1030T>A (p.Ser344Thr)
|
rs183475885
|
0.00006
|
NM_032888.4(COL27A1):c.1052C>T (p.Ala351Val)
|
rs142594229
|
0.00006
|
NM_032888.4(COL27A1):c.1056C>T (p.Ala352=)
|
rs763626897
|
0.00006
|
NM_032888.4(COL27A1):c.1159C>A (p.Pro387Thr)
|
rs767888747
|
0.00006
|
NM_032888.4(COL27A1):c.117C>A (p.Thr39=)
|
rs200096843
|
0.00006
|
NM_032888.4(COL27A1):c.1182T>C (p.Ser394=)
|
rs375425742
|
0.00006
|
NM_032888.4(COL27A1):c.1302G>A (p.Arg434=)
|
rs777397773
|
0.00006
|
NM_032888.4(COL27A1):c.1375C>T (p.Arg459Trp)
|
rs139974066
|
0.00006
|
NM_032888.4(COL27A1):c.1530A>G (p.Pro510=)
|
rs756789715
|
0.00006
|
NM_032888.4(COL27A1):c.1620A>G (p.Glu540=)
|
rs758895314
|
0.00006
|
NM_032888.4(COL27A1):c.2073T>C (p.Gly691=)
|
rs1222854553
|
0.00006
|
NM_032888.4(COL27A1):c.2157C>T (p.His719=)
|
rs140601688
|
0.00006
|
NM_032888.4(COL27A1):c.2654G>A (p.Arg885Gln)
|
rs199597099
|
0.00006
|
NM_032888.4(COL27A1):c.2815C>T (p.Arg939Cys)
|
rs200705000
|
0.00006
|
NM_032888.4(COL27A1):c.3033+7G>A
|
rs780731796
|
0.00006
|
NM_032888.4(COL27A1):c.4350C>T (p.Asp1450=)
|
rs371179881
|
0.00006
|
NM_032888.4(COL27A1):c.4440C>T (p.Ala1480=)
|
rs367640996
|
0.00006
|
NM_032888.4(COL27A1):c.456C>T (p.His152=)
|
rs757275050
|
0.00006
|
NM_032888.4(COL27A1):c.786C>T (p.Ser262=)
|
rs201345287
|
0.00006
|
NM_032888.4(COL27A1):c.882C>T (p.Pro294=)
|
rs776884092
|
0.00006
|
NM_032888.4(COL27A1):c.2547C>T (p.Pro849=)
|
rs144760825
|
0.00005
|
NM_032888.4(COL27A1):c.2961G>A (p.Pro987=)
|
rs376303544
|
0.00005
|
NM_032888.4(COL27A1):c.345C>T (p.Phe115=)
|
rs749400167
|
0.00005
|
NM_032888.4(COL27A1):c.396C>T (p.Pro132=)
|
rs753062733
|
0.00005
|
NM_032888.4(COL27A1):c.4958G>T (p.Arg1653Leu)
|
rs751681660
|
0.00005
|
NM_032888.4(COL27A1):c.5202C>A (p.Pro1734=)
|
rs766405367
|
0.00005
|
NM_032888.4(COL27A1):c.702G>A (p.Lys234=)
|
rs546860616
|
0.00005
|
NM_032888.4(COL27A1):c.787G>A (p.Asp263Asn)
|
rs200344636
|
0.00005
|
NM_032888.4(COL27A1):c.993C>T (p.Asn331=)
|
rs562855199
|
0.00005
|
NM_032888.4(COL27A1):c.1170A>G (p.Lys390=)
|
rs372140058
|
0.00004
|
NM_032888.4(COL27A1):c.1413G>A (p.Pro471=)
|
rs762347705
|
0.00004
|
NM_032888.4(COL27A1):c.144C>T (p.Ile48=)
|
rs747870284
|
0.00004
|
NM_032888.4(COL27A1):c.1495A>G (p.Arg499Gly)
|
rs200519980
|
0.00004
|
NM_032888.4(COL27A1):c.1518G>A (p.Thr506=)
|
rs139976325
|
0.00004
|
NM_032888.4(COL27A1):c.1784C>T (p.Ala595Val)
|
rs756393374
|
0.00004
|
NM_032888.4(COL27A1):c.2160C>T (p.Pro720=)
|
rs146410522
|
0.00004
|
NM_032888.4(COL27A1):c.2427A>G (p.Glu809=)
|
rs377387408
|
0.00004
|
NM_032888.4(COL27A1):c.2457C>T (p.Pro819=)
|
rs748462871
|
0.00004
|
NM_032888.4(COL27A1):c.2467-5C>T
|
rs770121086
|
0.00004
|
NM_032888.4(COL27A1):c.2482T>C (p.Leu828=)
|
rs771526098
|
0.00004
|
NM_032888.4(COL27A1):c.2566-10G>A
|
rs372617716
|
0.00004
|
NM_032888.4(COL27A1):c.2736A>C (p.Pro912=)
|
rs769151275
|
0.00004
|
NM_032888.4(COL27A1):c.27C>G (p.Ala9=)
|
rs759255537
|
0.00004
|
NM_032888.4(COL27A1):c.2808G>A (p.Pro936=)
|
rs753347288
|
0.00004
|
NM_032888.4(COL27A1):c.2877G>A (p.Leu959=)
|
rs761767872
|
0.00004
|
NM_032888.4(COL27A1):c.2881-17C>A
|
rs369216744
|
0.00004
|
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val)
|
rs150759476
|
0.00004
|
NM_032888.4(COL27A1):c.303G>A (p.Val101=)
|
rs375672077
|
0.00004
|
NM_032888.4(COL27A1):c.3195+7C>T
|
rs772132287
|
0.00004
|
NM_032888.4(COL27A1):c.3448-12G>A
|
rs559285602
|
0.00004
|
NM_032888.4(COL27A1):c.3492C>T (p.Ala1164=)
|
rs145938099
|
0.00004
|
NM_032888.4(COL27A1):c.3681C>T (p.Asp1227=)
|
rs1298694490
|
0.00004
|
NM_032888.4(COL27A1):c.3772-17C>A
|
rs367589669
|
0.00004
|
NM_032888.4(COL27A1):c.3772-9C>T
|
rs765939200
|
0.00004
|
NM_032888.4(COL27A1):c.417C>T (p.Leu139=)
|
rs369477310
|
0.00004
|
NM_032888.4(COL27A1):c.447C>T (p.Leu149=)
|
rs764478171
|
0.00004
|
NM_032888.4(COL27A1):c.4644G>A (p.Pro1548=)
|
rs758523198
|
0.00004
|
NM_032888.4(COL27A1):c.5033C>T (p.Thr1678Met)
|
rs766329166
|
0.00004
|
NM_032888.4(COL27A1):c.5190G>A (p.Thr1730=)
|
rs565315568
|
0.00004
|
NM_032888.4(COL27A1):c.5218-5T>C
|
rs771892998
|
0.00004
|
NM_032888.4(COL27A1):c.665C>T (p.Thr222Met)
|
rs372325271
|
0.00004
|
NM_032888.4(COL27A1):c.1289C>T (p.Pro430Leu)
|
rs193166789
|
0.00003
|
NM_032888.4(COL27A1):c.1608C>T (p.Pro536=)
|
rs939116118
|
0.00003
|
NM_032888.4(COL27A1):c.171G>A (p.Thr57=)
|
rs775896019
|
0.00003
|
NM_032888.4(COL27A1):c.1998C>T (p.Pro666=)
|
rs767404590
|
0.00003
|
NM_032888.4(COL27A1):c.2097C>T (p.Ser699=)
|
rs570640809
|
0.00003
|
NM_032888.4(COL27A1):c.231G>A (p.Thr77=)
|
rs190770493
|
0.00003
|
NM_032888.4(COL27A1):c.2323-15G>C
|
rs554464911
|
0.00003
|
NM_032888.4(COL27A1):c.235C>T (p.Arg79Trp)
|
rs747530985
|
0.00003
|
NM_032888.4(COL27A1):c.249G>A (p.Gln83=)
|
rs372211916
|
0.00003
|
NM_032888.4(COL27A1):c.2620-7C>A
|
rs767956787
|
0.00003
|
NM_032888.4(COL27A1):c.264C>T (p.Thr88=)
|
rs201917514
|
0.00003
|
NM_032888.4(COL27A1):c.2709C>T (p.Pro903=)
|
rs776782702
|
0.00003
|
NM_032888.4(COL27A1):c.2859G>T (p.Pro953=)
|
rs747181763
|
0.00003
|
NM_032888.4(COL27A1):c.2916C>T (p.Pro972=)
|
rs372764232
|
0.00003
|
NM_032888.4(COL27A1):c.3084G>A (p.Ser1028=)
|
rs769992108
|
0.00003
|
NM_032888.4(COL27A1):c.3303T>G (p.Ala1101=)
|
rs760003621
|
0.00003
|
NM_032888.4(COL27A1):c.3771+9C>A
|
rs764002672
|
0.00003
|
NM_032888.4(COL27A1):c.3810C>T (p.Gly1270=)
|
rs757677417
|
0.00003
|
NM_032888.4(COL27A1):c.441C>T (p.Phe147=)
|
rs575113764
|
0.00003
|
NM_032888.4(COL27A1):c.4629C>T (p.Phe1543=)
|
rs764545546
|
0.00003
|
NM_032888.4(COL27A1):c.4735C>T (p.Leu1579=)
|
rs369039093
|
0.00003
|
NM_032888.4(COL27A1):c.5107+18C>T
|
rs767762396
|
0.00003
|
NM_032888.4(COL27A1):c.5208G>A (p.Thr1736=)
|
rs563579546
|
0.00003
|
NM_032888.4(COL27A1):c.5571G>A (p.Ala1857=)
|
rs576834803
|
0.00003
|
NM_032888.4(COL27A1):c.1026C>T (p.Gly342=)
|
rs762892390
|
0.00002
|
NM_032888.4(COL27A1):c.1101C>T (p.Ser367=)
|
rs777844587
|
0.00002
|
NM_032888.4(COL27A1):c.1119G>A (p.Ser373=)
|
rs200912572
|
0.00002
|
NM_032888.4(COL27A1):c.1290G>A (p.Pro430=)
|
rs201849595
|
0.00002
|
NM_032888.4(COL27A1):c.134-17T>C
|
rs367798942
|
0.00002
|
NM_032888.4(COL27A1):c.1401T>C (p.His467=)
|
rs770579353
|
0.00002
|
NM_032888.4(COL27A1):c.177C>T (p.Ala59=)
|
rs138977561
|
0.00002
|
NM_032888.4(COL27A1):c.1963-7C>G
|
rs773244793
|
0.00002
|
NM_032888.4(COL27A1):c.2250C>T (p.Pro750=)
|
rs373974606
|
0.00002
|
NM_032888.4(COL27A1):c.2269-4C>T
|
rs970715359
|
0.00002
|
NM_032888.4(COL27A1):c.2269-8T>C
|
rs770774660
|
0.00002
|
NM_032888.4(COL27A1):c.2269-9C>G
|
rs763162022
|
0.00002
|
NM_032888.4(COL27A1):c.2601C>T (p.Pro867=)
|
rs760432031
|
0.00002
|
NM_032888.4(COL27A1):c.2841T>C (p.Asp947=)
|
rs756559559
|
0.00002
|
NM_032888.4(COL27A1):c.2934+14G>C
|
rs549785266
|
0.00002
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
NM_032888.4(COL27A1):c.3090T>C (p.Gly1030=)
|
rs1351264483
|
0.00002
|
NM_032888.4(COL27A1):c.3191G>A (p.Arg1064His)
|
rs368823650
|
0.00002
|
NM_032888.4(COL27A1):c.3225G>C (p.Gly1075=)
|
rs758470466
|
0.00002
|
NM_032888.4(COL27A1):c.3393+8C>A
|
rs556817433
|
0.00002
|
NM_032888.4(COL27A1):c.3406C>A (p.Pro1136Thr)
|
rs199763065
|
0.00002
|
NM_032888.4(COL27A1):c.3473C>T (p.Pro1158Leu)
|
rs201303864
|
0.00002
|
NM_032888.4(COL27A1):c.3669G>A (p.Leu1223=)
|
rs745526511
|
0.00002
|
NM_032888.4(COL27A1):c.3772-7G>C
|
rs1393466660
|
0.00002
|
NM_032888.4(COL27A1):c.3879+7A>G
|
rs774269901
|
0.00002
|
NM_032888.4(COL27A1):c.4407C>T (p.Gly1469=)
|
rs1043887735
|
0.00002
|
NM_032888.4(COL27A1):c.4455A>C (p.Ala1485=)
|
rs748276652
|
0.00002
|
NM_032888.4(COL27A1):c.4683G>A (p.Arg1561=)
|
rs370893949
|
0.00002
|
NM_032888.4(COL27A1):c.4701+10C>T
|
rs1244792106
|
0.00002
|
NM_032888.4(COL27A1):c.4806G>A (p.Pro1602=)
|
rs147409979
|
0.00002
|
NM_032888.4(COL27A1):c.5207C>T (p.Thr1736Met)
|
rs372335521
|
0.00002
|
NM_032888.4(COL27A1):c.522C>T (p.Cys174=)
|
rs1350972747
|
0.00002
|
NM_032888.4(COL27A1):c.5244G>A (p.Gln1748=)
|
rs373599694
|
0.00002
|
NM_032888.4(COL27A1):c.5265A>G (p.Leu1755=)
|
rs756236155
|
0.00002
|
NM_032888.4(COL27A1):c.5529T>C (p.Pro1843=)
|
rs1220510532
|
0.00002
|
NM_032888.4(COL27A1):c.62+7A>G
|
rs755190082
|
0.00002
|
NM_032888.4(COL27A1):c.888G>A (p.Thr296=)
|
rs973209904
|
0.00002
|
NM_032888.4(COL27A1):c.1023T>C (p.Val341=)
|
rs780521930
|
0.00001
|
NM_032888.4(COL27A1):c.1050T>G (p.Pro350=)
|
rs774816263
|
0.00001
|
NM_032888.4(COL27A1):c.1065A>G (p.Pro355=)
|
rs751932068
|
0.00001
|
NM_032888.4(COL27A1):c.1071G>A (p.Gln357=)
|
rs755426142
|
0.00001
|
NM_032888.4(COL27A1):c.1095C>T (p.Pro365=)
|
rs1222323350
|
0.00001
|
NM_032888.4(COL27A1):c.1116T>A (p.Pro372=)
|
rs750902736
|
0.00001
|
NM_032888.4(COL27A1):c.1200C>T (p.Ala400=)
|
rs1256649557
|
0.00001
|
NM_032888.4(COL27A1):c.1263C>T (p.Pro421=)
|
rs369387928
|
0.00001
|
NM_032888.4(COL27A1):c.1311G>A (p.Pro437=)
|
rs1280331514
|
0.00001
|
NM_032888.4(COL27A1):c.133+12T>C
|
rs1848591778
|
0.00001
|
NM_032888.4(COL27A1):c.134-9C>A
|
rs751040547
|
0.00001
|
NM_032888.4(COL27A1):c.1545C>T (p.Ser515=)
|
rs373483873
|
0.00001
|
NM_032888.4(COL27A1):c.1641C>T (p.Pro547=)
|
rs1445017350
|
0.00001
|
NM_032888.4(COL27A1):c.1668C>T (p.Pro556=)
|
rs1206581813
|
0.00001
|
NM_032888.4(COL27A1):c.1704G>A (p.Leu568=)
|
rs750860049
|
0.00001
|
NM_032888.4(COL27A1):c.1707C>T (p.Ser569=)
|
rs758899812
|
0.00001
|
NM_032888.4(COL27A1):c.1764G>A (p.Pro588=)
|
rs762087400
|
0.00001
|
NM_032888.4(COL27A1):c.1773A>C (p.Val591=)
|
rs139889452
|
0.00001
|
NM_032888.4(COL27A1):c.1785G>A (p.Ala595=)
|
rs781558892
|
0.00001
|
NM_032888.4(COL27A1):c.1809G>A (p.Arg603=)
|
rs774855050
|
0.00001
|
NM_032888.4(COL27A1):c.1815G>A (p.Thr605=)
|
rs989121410
|
0.00001
|
NM_032888.4(COL27A1):c.1830G>A (p.Ser610=)
|
rs200537997
|
0.00001
|
NM_032888.4(COL27A1):c.1833C>T (p.Ile611=)
|
rs986333583
|
0.00001
|
NM_032888.4(COL27A1):c.1839C>T (p.His613=)
|
rs1849150741
|
0.00001
|
NM_032888.4(COL27A1):c.186T>C (p.Pro62=)
|
rs765454716
|
0.00001
|
NM_032888.4(COL27A1):c.1896C>T (p.Asp632=)
|
rs774568783
|
0.00001
|
NM_032888.4(COL27A1):c.1920G>A (p.Gly640=)
|
rs762171990
|
0.00001
|
NM_032888.4(COL27A1):c.1980T>C (p.Tyr660=)
|
rs1382174375
|
0.00001
|
NM_032888.4(COL27A1):c.2007T>G (p.Pro669=)
|
rs1307968839
|
0.00001
|
NM_032888.4(COL27A1):c.2058C>T (p.His686=)
|
rs767457458
|
0.00001
|
NM_032888.4(COL27A1):c.2175G>A (p.Gln725=)
|
rs1829908487
|
0.00001
|
NM_032888.4(COL27A1):c.2199G>C (p.Gly733=)
|
rs531360369
|
0.00001
|
NM_032888.4(COL27A1):c.2238G>A (p.Pro746=)
|
rs771500139
|
0.00001
|
NM_032888.4(COL27A1):c.2323-17C>T
|
rs375296921
|
0.00001
|
NM_032888.4(COL27A1):c.2343C>A (p.Gly781=)
|
rs1249796457
|
0.00001
|
NM_032888.4(COL27A1):c.240C>A (p.Ala80=)
|
rs776631973
|
0.00001
|
NM_032888.4(COL27A1):c.2436G>A (p.Leu812=)
|
rs1831162626
|
0.00001
|
NM_032888.4(COL27A1):c.2490G>A (p.Pro830=)
|
rs374233169
|
0.00001
|
NM_032888.4(COL27A1):c.24G>C (p.Gly8=)
|
rs770480240
|
0.00001
|
NM_032888.4(COL27A1):c.2520+7A>G
|
rs1477399215
|
0.00001
|
NM_032888.4(COL27A1):c.2532C>T (p.Gly844=)
|
rs765915523
|
0.00001
|
NM_032888.4(COL27A1):c.2541G>A (p.Gly847=)
|
rs1291007387
|
0.00001
|
NM_032888.4(COL27A1):c.2553G>A (p.Leu851=)
|
rs780026251
|
0.00001
|
NM_032888.4(COL27A1):c.2667G>A (p.Gly889=)
|
rs761565970
|
0.00001
|
NM_032888.4(COL27A1):c.2712G>A (p.Gly904=)
|
rs761727886
|
0.00001
|
NM_032888.4(COL27A1):c.2715C>T (p.Pro905=)
|
rs765351566
|
0.00001
|
NM_032888.4(COL27A1):c.2728-18C>T
|
rs775858139
|
0.00001
|
NM_032888.4(COL27A1):c.2892C>G (p.Gly964=)
|
rs747879528
|
0.00001
|
NM_032888.4(COL27A1):c.2925T>C (p.Asp975=)
|
rs762339239
|
0.00001
|
NM_032888.4(COL27A1):c.2935-8C>T
|
rs1175513952
|
0.00001
|
NM_032888.4(COL27A1):c.2958G>A (p.Arg986=)
|
rs1213916657
|
0.00001
|
NM_032888.4(COL27A1):c.2982A>T (p.Gly994=)
|
rs1314384469
|
0.00001
|
NM_032888.4(COL27A1):c.300G>A (p.Leu100=)
|
rs773468575
|
0.00001
|
NM_032888.4(COL27A1):c.318C>T (p.Ser106=)
|
rs753526489
|
0.00001
|
NM_032888.4(COL27A1):c.3192T>C (p.Arg1064=)
|
rs1834107027
|
0.00001
|
NM_032888.4(COL27A1):c.3198C>A (p.Gly1066=)
|
rs764581319
|
0.00001
|
NM_032888.4(COL27A1):c.3213C>T (p.Asp1071=)
|
rs887146990
|
0.00001
|
NM_032888.4(COL27A1):c.3231A>G (p.Gln1077=)
|
rs1834579007
|
0.00001
|
NM_032888.4(COL27A1):c.3249+8C>T
|
rs1161487233
|
0.00001
|
NM_032888.4(COL27A1):c.3324C>T (p.Gly1108=)
|
rs1172751208
|
0.00001
|
NM_032888.4(COL27A1):c.3348G>A (p.Pro1116=)
|
rs779262299
|
0.00001
|
NM_032888.4(COL27A1):c.3378C>A (p.Gly1126=)
|
rs748408416
|
0.00001
|
NM_032888.4(COL27A1):c.3393+9C>G
|
rs1272045890
|
0.00001
|
NM_032888.4(COL27A1):c.3460G>A (p.Ala1154Thr)
|
rs757353994
|
0.00001
|
NM_032888.4(COL27A1):c.3501+9G>C
|
rs564627616
|
0.00001
|
NM_032888.4(COL27A1):c.3534G>A (p.Glu1178=)
|
rs1469619164
|
0.00001
|
NM_032888.4(COL27A1):c.3556-9C>A
|
rs202138098
|
0.00001
|
NM_032888.4(COL27A1):c.3609+9C>G
|
rs768929542
|
0.00001
|
NM_032888.4(COL27A1):c.3630G>A (p.Gly1210=)
|
rs756863578
|
0.00001
|
NM_032888.4(COL27A1):c.3684G>A (p.Gly1228=)
|
rs1386688842
|
0.00001
|
NM_032888.4(COL27A1):c.3717+8T>C
|
rs1421670099
|
0.00001
|
NM_032888.4(COL27A1):c.3772-8T>C
|
rs372680749
|
0.00001
|
NM_032888.4(COL27A1):c.3837C>G (p.Gly1279=)
|
rs747151412
|
0.00001
|
NM_032888.4(COL27A1):c.3867C>T (p.Ser1289=)
|
rs1271026454
|
0.00001
|
NM_032888.4(COL27A1):c.3880-10C>T
|
rs777630861
|
0.00001
|
NM_032888.4(COL27A1):c.3880-5T>C
|
rs770688614
|
0.00001
|
NM_032888.4(COL27A1):c.3880-7C>T
|
rs1455531316
|
0.00001
|
NM_032888.4(COL27A1):c.3915G>A (p.Pro1305=)
|
rs753514092
|
0.00001
|
NM_032888.4(COL27A1):c.3930T>C (p.Tyr1310=)
|
rs377083574
|
0.00001
|
NM_032888.4(COL27A1):c.3934-5T>C
|
rs200942565
|
0.00001
|
NM_032888.4(COL27A1):c.393C>T (p.Leu131=)
|
rs377185109
|
0.00001
|
NM_032888.4(COL27A1):c.3951G>A (p.Val1317=)
|
rs758174752
|
0.00001
|
NM_032888.4(COL27A1):c.3982G>A (p.Glu1328Lys)
|
rs769508193
|
0.00001
|
NM_032888.4(COL27A1):c.3987+9T>A
|
rs755571956
|
0.00001
|
NM_032888.4(COL27A1):c.4207-10G>C
|
rs752092305
|
0.00001
|
NM_032888.4(COL27A1):c.4254G>T (p.Gly1418=)
|
rs1193812382
|
0.00001
|
NM_032888.4(COL27A1):c.4278A>T (p.Pro1426=)
|
rs1827818758
|
0.00001
|
NM_032888.4(COL27A1):c.4287G>A (p.Arg1429=)
|
rs1464416833
|
0.00001
|
NM_032888.4(COL27A1):c.4290C>T (p.Gly1430=)
|
rs575474490
|
0.00001
|
NM_032888.4(COL27A1):c.4293G>A (p.Val1431=)
|
rs1332924250
|
0.00001
|
NM_032888.4(COL27A1):c.4335G>C (p.Gly1445=)
|
rs772289658
|
0.00001
|
NM_032888.4(COL27A1):c.4368+7G>A
|
rs909874370
|
0.00001
|
NM_032888.4(COL27A1):c.4383C>T (p.Asp1461=)
|
rs1199082188
|
0.00001
|
NM_032888.4(COL27A1):c.4464C>T (p.Pro1488=)
|
rs1265322353
|
0.00001
|
NM_032888.4(COL27A1):c.4530G>A (p.Glu1510=)
|
rs749536750
|
0.00001
|
NM_032888.4(COL27A1):c.4545C>A (p.Leu1515=)
|
rs1412585463
|
0.00001
|
NM_032888.4(COL27A1):c.4584+10C>T
|
rs763676344
|
0.00001
|
NM_032888.4(COL27A1):c.4584+8A>G
|
rs760465347
|
0.00001
|
NM_032888.4(COL27A1):c.4665A>G (p.Lys1555=)
|
rs780188969
|
0.00001
|
NM_032888.4(COL27A1):c.4701+9C>T
|
rs374574395
|
0.00001
|
NM_032888.4(COL27A1):c.4716C>T (p.Ile1572=)
|
rs770374638
|
0.00001
|
NM_032888.4(COL27A1):c.4719C>T (p.Val1573=)
|
rs1245178440
|
0.00001
|
NM_032888.4(COL27A1):c.4752C>G (p.Leu1584=)
|
rs182652506
|
0.00001
|
NM_032888.4(COL27A1):c.4756-15C>T
|
rs551374988
|
0.00001
|
NM_032888.4(COL27A1):c.4792-5T>G
|
rs1828622899
|
0.00001
|
NM_032888.4(COL27A1):c.4810-10G>T
|
rs777481360
|
0.00001
|
NM_032888.4(COL27A1):c.4824C>T (p.Pro1608=)
|
rs937408618
|
0.00001
|
NM_032888.4(COL27A1):c.4872+8G>A
|
rs1010945154
|
0.00001
|
NM_032888.4(COL27A1):c.4917C>T (p.Thr1639=)
|
rs1828899794
|
0.00001
|
NM_032888.4(COL27A1):c.4938+9A>C
|
rs760940536
|
0.00001
|
NM_032888.4(COL27A1):c.4939-8C>T
|
rs765827451
|
0.00001
|
NM_032888.4(COL27A1):c.4947C>T (p.Ser1649=)
|
rs1453551719
|
0.00001
|
NM_032888.4(COL27A1):c.501A>G (p.Thr167=)
|
rs774093023
|
0.00001
|
NM_032888.4(COL27A1):c.5094G>A (p.Gln1698=)
|
rs1250224526
|
0.00001
|
NM_032888.4(COL27A1):c.5130C>T (p.Asn1710=)
|
rs1405798136
|
0.00001
|
NM_032888.4(COL27A1):c.5178T>C (p.His1726=)
|
rs1321917854
|
0.00001
|
NM_032888.4(COL27A1):c.5217+9C>T
|
rs765530594
|
0.00001
|
NM_032888.4(COL27A1):c.5218-4A>G
|
rs576235817
|
0.00001
|
NM_032888.4(COL27A1):c.5220C>T (p.Val1740=)
|
rs886514953
|
0.00001
|
NM_032888.4(COL27A1):c.5253C>T (p.Phe1751=)
|
rs767903261
|
0.00001
|
NM_032888.4(COL27A1):c.5289C>T (p.Ile1763=)
|
rs916291602
|
0.00001
|
NM_032888.4(COL27A1):c.5313C>T (p.Thr1771=)
|
rs372432322
|
0.00001
|
NM_032888.4(COL27A1):c.5355C>T (p.Ala1785=)
|
rs377141342
|
0.00001
|
NM_032888.4(COL27A1):c.5412C>T (p.Pro1804=)
|
rs750281633
|
0.00001
|
NM_032888.4(COL27A1):c.5418G>A (p.Val1806=)
|
rs756143860
|
0.00001
|
NM_032888.4(COL27A1):c.54G>A (p.Ala18=)
|
rs762262249
|
0.00001
|
NM_032888.4(COL27A1):c.5580C>T (p.Leu1860=)
|
rs757035473
|
0.00001
|
NM_032888.4(COL27A1):c.60G>T (p.Gly20=)
|
rs758537611
|
0.00001
|
NM_032888.4(COL27A1):c.62+9G>T
|
rs781496001
|
0.00001
|
NM_032888.4(COL27A1):c.636T>C (p.Ala212=)
|
rs766546940
|
0.00001
|
NM_032888.4(COL27A1):c.666G>A (p.Thr222=)
|
rs745911804
|
0.00001
|
NM_032888.4(COL27A1):c.66G>T (p.Gly22=)
|
rs1402569482
|
0.00001
|
NM_032888.4(COL27A1):c.681T>C (p.Asn227=)
|
rs538713049
|
0.00001
|
NM_032888.4(COL27A1):c.723G>A (p.Thr241=)
|
rs574675570
|
0.00001
|
NM_032888.4(COL27A1):c.792C>T (p.Leu264=)
|
rs557055064
|
0.00001
|
NM_032888.4(COL27A1):c.819C>T (p.Thr273=)
|
rs750381925
|
0.00001
|
NM_032888.4(COL27A1):c.835C>T (p.Leu279=)
|
rs1023942074
|
0.00001
|
NM_032888.4(COL27A1):c.865A>C (p.Arg289=)
|
rs1007867062
|
0.00001
|
NM_032888.4(COL27A1):c.912C>T (p.Ser304=)
|
rs1292792104
|
0.00001
|
NM_032888.4(COL27A1):c.915C>T (p.Pro305=)
|
rs1197599768
|
0.00001
|
NM_032888.4(COL27A1):c.963G>A (p.Pro321=)
|
rs770066087
|
0.00001
|
NM_032888.4(COL27A1):c.1002T>C (p.Asp334=)
|
|
|
NM_032888.4(COL27A1):c.1017C>G (p.Ala339=)
|
|
|
NM_032888.4(COL27A1):c.1017C>T (p.Ala339=)
|
|
|
NM_032888.4(COL27A1):c.1020T>C (p.Ser340=)
|
|
|
NM_032888.4(COL27A1):c.1026C>A (p.Gly342=)
|
|
|
NM_032888.4(COL27A1):c.102T>C (p.Cys34=)
|
rs1564409858
|
|
NM_032888.4(COL27A1):c.1040C>T (p.Thr347Met)
|
rs562109049
|
|
NM_032888.4(COL27A1):c.1041G>A (p.Thr347=)
|
rs774426205
|
|
NM_032888.4(COL27A1):c.1053G>C (p.Ala351=)
|
|
|
NM_032888.4(COL27A1):c.105C>T (p.His35=)
|
rs2135027968
|
|
NM_032888.4(COL27A1):c.1086C>T (p.Thr362=)
|
rs2135079987
|
|
NM_032888.4(COL27A1):c.1104C>G (p.Leu368=)
|
|
|
NM_032888.4(COL27A1):c.1104C>T (p.Leu368=)
|
rs749589243
|
|
NM_032888.4(COL27A1):c.1116T>C (p.Pro372=)
|
|
|
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe)
|
rs200179131
|
|
NM_032888.4(COL27A1):c.1143C>T (p.Pro381=)
|
rs2135080576
|
|
NM_032888.4(COL27A1):c.114C>T (p.Ser38=)
|
|
|
NM_032888.4(COL27A1):c.1155C>T (p.Pro385=)
|
rs2135080748
|
|
NM_032888.4(COL27A1):c.1164C>T (p.Thr388=)
|
|
|
NM_032888.4(COL27A1):c.116C>T (p.Thr39Ile)
|
|
|
NM_032888.4(COL27A1):c.1179A>G (p.Pro393=)
|
rs1382532191
|
|
NM_032888.4(COL27A1):c.1194G>A (p.Lys398=)
|
rs758266288
|
|
NM_032888.4(COL27A1):c.1201C>T (p.Leu401=)
|
|
|
NM_032888.4(COL27A1):c.1209T>A (p.Thr403=)
|
|
|
NM_032888.4(COL27A1):c.1245T>C (p.Pro415=)
|
|
|
NM_032888.4(COL27A1):c.1254C>G (p.Val418=)
|
|
|
NM_032888.4(COL27A1):c.1258C>T (p.Arg420Cys)
|
rs375099559
|
|
NM_032888.4(COL27A1):c.1275C>T (p.Pro425=)
|
|
|
NM_032888.4(COL27A1):c.1287C>T (p.Asn429=)
|
rs754901557
|
|
NM_032888.4(COL27A1):c.1290G>C (p.Pro430=)
|
|
|
NM_032888.4(COL27A1):c.1299C>T (p.Pro433=)
|
rs769351304
|
|
NM_032888.4(COL27A1):c.12A>G (p.Gly4=)
|
rs1848091410
|
|
NM_032888.4(COL27A1):c.1300A>C (p.Arg434=)
|
rs1849093908
|
|
NM_032888.4(COL27A1):c.1308A>G (p.Pro436=)
|
|
|
NM_032888.4(COL27A1):c.1314C>T (p.Pro438=)
|
|
|
NM_032888.4(COL27A1):c.1320C>T (p.Thr440=)
|
|
|
NM_032888.4(COL27A1):c.1323G>T (p.Arg441=)
|
|
|
NM_032888.4(COL27A1):c.1329A>G (p.Leu443=)
|
|
|
NM_032888.4(COL27A1):c.133+9C>T
|
|
|
NM_032888.4(COL27A1):c.1332T>A (p.Pro444=)
|
rs2135082673
|
|
NM_032888.4(COL27A1):c.1332T>G (p.Pro444=)
|
|
|
NM_032888.4(COL27A1):c.134-14T>C
|
|
|
NM_032888.4(COL27A1):c.134-5C>T
|
|
|
NM_032888.4(COL27A1):c.134-7C>T
|
|
|
NM_032888.4(COL27A1):c.134-8C>T
|
|
|
NM_032888.4(COL27A1):c.1341C>T (p.Thr447=)
|
rs2135082748
|
|
NM_032888.4(COL27A1):c.1346C>T (p.Ser449Phe)
|
|
|
NM_032888.4(COL27A1):c.1356A>G (p.Lys452=)
|
|
|
NM_032888.4(COL27A1):c.1359C>T (p.Pro453=)
|
rs1199488790
|
|
NM_032888.4(COL27A1):c.1365C>A (p.Pro455=)
|
rs751335161
|
|
NM_032888.4(COL27A1):c.1368A>G (p.Thr456=)
|
rs2135083150
|
|
NM_032888.4(COL27A1):c.1374T>G (p.Ala458=)
|
rs2135083240
|
|
NM_032888.4(COL27A1):c.1410G>A (p.Lys470=)
|
|
|
NM_032888.4(COL27A1):c.1413G>T (p.Pro471=)
|
rs762347705
|
|
NM_032888.4(COL27A1):c.141C>T (p.Asp47=)
|
rs1023106800
|
|
NM_032888.4(COL27A1):c.1431C>T (p.Ser477=)
|
|
|
NM_032888.4(COL27A1):c.1440A>G (p.Lys480=)
|
|
|
NM_032888.4(COL27A1):c.1459T>C (p.Leu487=)
|
rs1934909426
|
|
NM_032888.4(COL27A1):c.1467A>G (p.Ser489=)
|
|
|
NM_032888.4(COL27A1):c.147C>T (p.Leu49=)
|
rs141061686
|
|
NM_032888.4(COL27A1):c.1488T>C (p.Gly496=)
|
|
|
NM_032888.4(COL27A1):c.1491T>A (p.Ser497=)
|
|
|
NM_032888.4(COL27A1):c.1504C>A (p.Arg502=)
|
rs142260452
|
|
NM_032888.4(COL27A1):c.1506G>C (p.Arg502=)
|
|
|
NM_032888.4(COL27A1):c.150G>A (p.Gln50=)
|
|
|
NM_032888.4(COL27A1):c.1518G>T (p.Thr506=)
|
|
|
NM_032888.4(COL27A1):c.1524A>C (p.Val508=)
|
rs2135084828
|
|
NM_032888.4(COL27A1):c.1536G>C (p.Ser512=)
|
|
|
NM_032888.4(COL27A1):c.153G>T (p.Arg51=)
|
|
|
NM_032888.4(COL27A1):c.1551C>T (p.Pro517=)
|
|
|
NM_032888.4(COL27A1):c.1557A>G (p.Thr519=)
|
|
|
NM_032888.4(COL27A1):c.1560A>G (p.Ala520=)
|
rs778337016
|
|
NM_032888.4(COL27A1):c.1563T>A (p.Pro521=)
|
|
|
NM_032888.4(COL27A1):c.1566C>G (p.Ala522=)
|
rs145560419
|
|
NM_032888.4(COL27A1):c.1566C>T (p.Ala522=)
|
rs145560419
|
|
NM_032888.4(COL27A1):c.1572C>T (p.Pro524=)
|
rs1849124554
|
|
NM_032888.4(COL27A1):c.1575T>A (p.Thr525=)
|
|
|
NM_032888.4(COL27A1):c.1587T>A (p.Ala529=)
|
rs1849125680
|
|
NM_032888.4(COL27A1):c.159C>G (p.Gly53=)
|
|
|
NM_032888.4(COL27A1):c.15G>A (p.Ser5=)
|
|
|
NM_032888.4(COL27A1):c.1602G>A (p.Lys534=)
|
|
|
NM_032888.4(COL27A1):c.1629G>A (p.Lys543=)
|
rs2135086137
|
|
NM_032888.4(COL27A1):c.162C>T (p.Leu54=)
|
|
|
NM_032888.4(COL27A1):c.1635C>G (p.Ala545=)
|
rs552089615
|
|
NM_032888.4(COL27A1):c.1638A>T (p.Gly546=)
|
|
|
NM_032888.4(COL27A1):c.1644G>A (p.Lys548=)
|
|
|
NM_032888.4(COL27A1):c.1650C>T (p.Ser550=)
|
|
|
NM_032888.4(COL27A1):c.1653C>A (p.Pro551=)
|
|
|
NM_032888.4(COL27A1):c.1656G>A (p.Arg552=)
|
rs533567544
|
|
NM_032888.4(COL27A1):c.165C>T (p.Ser55=)
|
rs1848988918
|
|
NM_032888.4(COL27A1):c.1665C>A (p.Val555=)
|
|
|
NM_032888.4(COL27A1):c.1665C>T (p.Val555=)
|
rs1301585833
|
|
NM_032888.4(COL27A1):c.1677T>C (p.Pro559=)
|
|
|
NM_032888.4(COL27A1):c.1686A>G (p.Ala562=)
|
|
|
NM_032888.4(COL27A1):c.1692G>A (p.Arg564=)
|
|
|
NM_032888.4(COL27A1):c.1698C>G (p.Val566=)
|
|
|
NM_032888.4(COL27A1):c.1701C>T (p.Pro567=)
|
rs2135087154
|
|
NM_032888.4(COL27A1):c.1702T>C (p.Leu568=)
|
|
|
NM_032888.4(COL27A1):c.170C>T (p.Thr57Met)
|
rs150242638
|
|
NM_032888.4(COL27A1):c.1711C>T (p.Leu571=)
|
|
|
NM_032888.4(COL27A1):c.1713G>A (p.Leu571=)
|
rs2135087291
|
|
NM_032888.4(COL27A1):c.1719C>G (p.Thr573=)
|
|
|
NM_032888.4(COL27A1):c.1719C>T (p.Thr573=)
|
|
|
NM_032888.4(COL27A1):c.1722G>A (p.Arg574=)
|
rs2135087430
|
|
NM_032888.4(COL27A1):c.1727G>C (p.Ser576Thr)
|
rs148019836
|
|
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile)
|
rs148019836
|
|
NM_032888.4(COL27A1):c.1728C>T (p.Ser576=)
|
|
|
NM_032888.4(COL27A1):c.1740C>G (p.Pro580=)
|
|
|
NM_032888.4(COL27A1):c.1746C>T (p.Pro582=)
|
|
|
NM_032888.4(COL27A1):c.174G>A (p.Lys58=)
|
|
|
NM_032888.4(COL27A1):c.1758C>A (p.Thr586=)
|
|
|
NM_032888.4(COL27A1):c.1758C>T (p.Thr586=)
|
|
|
NM_032888.4(COL27A1):c.1761C>T (p.Thr587=)
|
rs767097455
|
|
NM_032888.4(COL27A1):c.1764G>T (p.Pro588=)
|
rs762087400
|
|
NM_032888.4(COL27A1):c.1767C>G (p.Ala589=)
|
|
|
NM_032888.4(COL27A1):c.1774T>C (p.Leu592=)
|
|
|
NM_032888.4(COL27A1):c.1782G>C (p.Pro594=)
|
rs541446954
|
|
NM_032888.4(COL27A1):c.1788A>G (p.Gln596=)
|
|
|
NM_032888.4(COL27A1):c.1794G>A (p.Leu598=)
|
rs1294827331
|
|
NM_032888.4(COL27A1):c.1803C>T (p.Ser601=)
|
rs749060672
|
|
NM_032888.4(COL27A1):c.1806C>T (p.Pro602=)
|
|
|
NM_032888.4(COL27A1):c.180G>A (p.Gly60=)
|
rs564819689
|
|
NM_032888.4(COL27A1):c.1812C>A (p.Pro604=)
|
rs372386328
|
|
NM_032888.4(COL27A1):c.1815G>C (p.Thr605=)
|
rs989121410
|
|
NM_032888.4(COL27A1):c.1815G>T (p.Thr605=)
|
rs989121410
|
|
NM_032888.4(COL27A1):c.1821T>C (p.Ser607=)
|
rs2135088677
|
|
NM_032888.4(COL27A1):c.1827T>C (p.Tyr609=)
|
|
|
NM_032888.4(COL27A1):c.1830G>T (p.Ser610=)
|
|
|
NM_032888.4(COL27A1):c.1840C>T (p.Leu614=)
|
|
|
NM_032888.4(COL27A1):c.1845A>G (p.Ala615=)
|
|
|
NM_032888.4(COL27A1):c.1854G>T (p.Thr618=)
|
rs114789352
|
|
NM_032888.4(COL27A1):c.1857T>C (p.Pro619=)
|
rs1849152119
|
|
NM_032888.4(COL27A1):c.1864C>T (p.Leu622=)
|
|
|
NM_032888.4(COL27A1):c.1866G>C (p.Leu622=)
|
|
|
NM_032888.4(COL27A1):c.1869G>A (p.Leu623=)
|
|
|
NM_032888.4(COL27A1):c.1869G>C (p.Leu623=)
|
rs757059453
|
|
NM_032888.4(COL27A1):c.1869G>T (p.Leu623=)
|
|
|
NM_032888.4(COL27A1):c.1875G>A (p.Gly625=)
|
|
|
NM_032888.4(COL27A1):c.1881G>A (p.Pro627=)
|
|
|
NM_032888.4(COL27A1):c.1884A>G (p.Gly628=)
|
|
|
NM_032888.4(COL27A1):c.1884A>T (p.Gly628=)
|
rs768324770
|
|
NM_032888.4(COL27A1):c.18G>A (p.Ala6=)
|
|
|
NM_032888.4(COL27A1):c.1902C>G (p.Gly634=)
|
rs2808771
|
|
NM_032888.4(COL27A1):c.1908+15G>A
|
|
|
NM_032888.4(COL27A1):c.1908+16G>T
|
|
|
NM_032888.4(COL27A1):c.1908+17T>C
|
|
|
NM_032888.4(COL27A1):c.1908+18C>T
|
|
|
NM_032888.4(COL27A1):c.1908+7C>T
|
rs754044631
|
|
NM_032888.4(COL27A1):c.1908+9G>A
|
|
|
NM_032888.4(COL27A1):c.1909-13G>A
|
|
|
NM_032888.4(COL27A1):c.1909-13G>C
|
rs774821525
|
|
NM_032888.4(COL27A1):c.1909-13G>T
|
|
|
NM_032888.4(COL27A1):c.1909-15T>C
|
|
|
NM_032888.4(COL27A1):c.1909-6C>T
|
rs2135144902
|
|
NM_032888.4(COL27A1):c.1915C>G (p.Pro639Ala)
|
|
|
NM_032888.4(COL27A1):c.1920G>C (p.Gly640=)
|
|
|
NM_032888.4(COL27A1):c.1921C>T (p.Leu641=)
|
rs1827624980
|
|
NM_032888.4(COL27A1):c.1929G>A (p.Gly643=)
|
|
|
NM_032888.4(COL27A1):c.192C>G (p.Pro64=)
|
|
|
NM_032888.4(COL27A1):c.192C>T (p.Pro64=)
|
|
|
NM_032888.4(COL27A1):c.1950A>G (p.Ala650=)
|
rs2135145354
|
|
NM_032888.4(COL27A1):c.1959T>C (p.Pro653=)
|
|
|
NM_032888.4(COL27A1):c.195G>A (p.Pro65=)
|
|
|
NM_032888.4(COL27A1):c.1962+14C>T
|
|
|
NM_032888.4(COL27A1):c.1962+16C>G
|
|
|
NM_032888.4(COL27A1):c.1962+17T>C
|
|
|
NM_032888.4(COL27A1):c.1962+20C>T
|
|
|
NM_032888.4(COL27A1):c.1962+8A>T
|
rs2135145511
|
|
NM_032888.4(COL27A1):c.1963-15C>T
|
|
|
NM_032888.4(COL27A1):c.1963-16T>C
|
|
|
NM_032888.4(COL27A1):c.1963-6_1963-3del
|
|
|
NM_032888.4(COL27A1):c.1963-7C>T
|
rs773244793
|
|
NM_032888.4(COL27A1):c.1963-9C>T
|
|
|
NM_032888.4(COL27A1):c.1989A>C (p.Pro663=)
|
|
|
NM_032888.4(COL27A1):c.1995C>A (p.Leu665=)
|
|
|
NM_032888.4(COL27A1):c.2010A>G (p.Gly670=)
|
|
|
NM_032888.4(COL27A1):c.2013C>G (p.Ala671=)
|
|
|
NM_032888.4(COL27A1):c.2016+10T>C
|
rs1828060298
|
|
NM_032888.4(COL27A1):c.2016+16A>C
|
|
|
NM_032888.4(COL27A1):c.2016+20G>A
|
|
|
NM_032888.4(COL27A1):c.2016+7_2016+10del
|
|
|
NM_032888.4(COL27A1):c.2016+9_2016+19dup
|
|
|
NM_032888.4(COL27A1):c.2017-13G>T
|
|
|
NM_032888.4(COL27A1):c.2017-17A>G
|
|
|
NM_032888.4(COL27A1):c.2017-8T>C
|
|
|
NM_032888.4(COL27A1):c.2040C>G (p.Leu680=)
|
rs1588631185
|
|
NM_032888.4(COL27A1):c.2055C>A (p.Ala685=)
|
rs145414281
|
|
NM_032888.4(COL27A1):c.2064G>A (p.Gly688=)
|
rs1417598438
|
|
NM_032888.4(COL27A1):c.2070+11A>C
|
|
|
NM_032888.4(COL27A1):c.2070+13G>T
|
|
|
NM_032888.4(COL27A1):c.2070+14G>A
|
rs2135241581
|
|
NM_032888.4(COL27A1):c.2070+18C>T
|
|
|
NM_032888.4(COL27A1):c.2070+19C>A
|
|
|
NM_032888.4(COL27A1):c.2070+8T>C
|
|
|
NM_032888.4(COL27A1):c.2070+8del
|
rs936857790
|
|
NM_032888.4(COL27A1):c.2071-20A>G
|
|
|
NM_032888.4(COL27A1):c.2071-7C>T
|
rs2135249350
|
|
NM_032888.4(COL27A1):c.2076C>T (p.Asp692=)
|
|
|
NM_032888.4(COL27A1):c.2088T>A (p.Pro696=)
|
|
|
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NM_032888.4(COL27A1):c.2169+22del
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NM_032888.4(COL27A1):c.2169+7GCCTCA[3]
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NM_032888.4(COL27A1):c.2313T>C (p.Asp771=)
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NM_032888.4(COL27A1):c.2322+10C>T
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NM_032888.4(COL27A1):c.2322+9G>C
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NM_032888.4(COL27A1):c.2323-10T>C
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NM_032888.4(COL27A1):c.2323-16del
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NM_032888.4(COL27A1):c.2323-17_2323-16del
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NM_032888.4(COL27A1):c.2323-6C>T
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NM_032888.4(COL27A1):c.2323-6del
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NM_032888.4(COL27A1):c.2367+15T>C
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NM_032888.4(COL27A1):c.2367+15del
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NM_032888.4(COL27A1):c.2367+17T>C
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NM_032888.4(COL27A1):c.2367+18C>A
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NM_032888.4(COL27A1):c.2367+20A>G
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NM_032888.4(COL27A1):c.2367+7del
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NM_032888.4(COL27A1):c.2368-10T>C
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NM_032888.4(COL27A1):c.2370G>A (p.Gly790=)
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NM_032888.4(COL27A1):c.2421+20G>C
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NM_032888.4(COL27A1):c.2422-17TC[2]
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NM_032888.4(COL27A1):c.2422-17TC[3]
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NM_032888.4(COL27A1):c.2422-9T>C
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|
rs1170255573
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NM_032888.4(COL27A1):c.2466+11_2466+12insA
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NM_032888.4(COL27A1):c.2466+15G>C
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NM_032888.4(COL27A1):c.2467-19del
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|
rs2135430358
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NM_032888.4(COL27A1):c.2727+19_2727+22dup
|
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NM_032888.4(COL27A1):c.2728-11C>T
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NM_032888.4(COL27A1):c.2781+9C>T
|
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NM_032888.4(COL27A1):c.2781+9del
|
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|
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|
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|
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|
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NM_032888.4(COL27A1):c.2782-6C>T
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|
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|
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NM_032888.4(COL27A1):c.2805G>A (p.Leu935=)
|
rs2135475310
|
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NM_032888.4(COL27A1):c.2808G>T (p.Pro936=)
|
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|
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|
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NM_032888.4(COL27A1):c.2832C>G (p.Pro944=)
|
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NM_032888.4(COL27A1):c.2835+10T>G
|
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|
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NM_032888.4(COL27A1):c.2835+14G>C
|
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NM_032888.4(COL27A1):c.2835+15C>T
|
rs771185118
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|
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NM_032888.4(COL27A1):c.2836-18C>G
|
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NM_032888.4(COL27A1):c.2836-18C>T
|
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|
NM_032888.4(COL27A1):c.2836-6T>C
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NM_032888.4(COL27A1):c.2836-9C>T
|
rs1393331147
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NM_032888.4(COL27A1):c.2859G>A (p.Pro953=)
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rs747181763
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NM_032888.4(COL27A1):c.2868C>T (p.Ala956=)
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NM_032888.4(COL27A1):c.2875T>C (p.Leu959=)
|
rs1328839541
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NM_032888.4(COL27A1):c.2880+11C>A
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NM_032888.4(COL27A1):c.2880+16C>T
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NM_032888.4(COL27A1):c.2880+7G>T
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NM_032888.4(COL27A1):c.2881-13C>G
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|
NM_032888.4(COL27A1):c.2881-15G>A
|
|
|
NM_032888.4(COL27A1):c.2881-4G>T
|
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NM_032888.4(COL27A1):c.2881-7G>A
|
rs2135488905
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NM_032888.4(COL27A1):c.2881-9C>G
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NM_032888.4(COL27A1):c.2881-9C>T
|
rs1209694693
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NM_032888.4(COL27A1):c.2889T>G (p.Pro963=)
|
rs958806026
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NM_032888.4(COL27A1):c.2910G>A (p.Gly970=)
|
|
|
NM_032888.4(COL27A1):c.2928C>G (p.Gly976=)
|
rs149117643
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NM_032888.4(COL27A1):c.2928C>T (p.Gly976=)
|
rs149117643
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NM_032888.4(COL27A1):c.2931G>A (p.Val977=)
|
rs1832907715
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NM_032888.4(COL27A1):c.2934+10C>T
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rs2135489332
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NM_032888.4(COL27A1):c.2934+12T>C
|
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NM_032888.4(COL27A1):c.2934+14G>A
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NM_032888.4(COL27A1):c.2934+15A>G
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NM_032888.4(COL27A1):c.2934+19C>A
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NM_032888.4(COL27A1):c.2934+20C>T
|
|
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NM_032888.4(COL27A1):c.2934+9del
|
rs2135489321
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NM_032888.4(COL27A1):c.2935-16C>T
|
rs2135501253
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NM_032888.4(COL27A1):c.2935-18C>T
|
|
|
NM_032888.4(COL27A1):c.2935-4G>C
|
|
|
NM_032888.4(COL27A1):c.2940A>G (p.Glu980=)
|
|
|
NM_032888.4(COL27A1):c.2958G>T (p.Arg986=)
|
rs1213916657
|
|
NM_032888.4(COL27A1):c.2960C>T (p.Pro987Leu)
|
rs138913107
|
|
NM_032888.4(COL27A1):c.2961G>C (p.Pro987=)
|
rs376303544
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NM_032888.4(COL27A1):c.2979+12A>G
|
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NM_032888.4(COL27A1):c.2979+13C>G
|
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|
NM_032888.4(COL27A1):c.2979+13C>T
|
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NM_032888.4(COL27A1):c.2979+14G>A
|
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NM_032888.4(COL27A1):c.2979+15G>T
|
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NM_032888.4(COL27A1):c.2979+17C>G
|
|
|
NM_032888.4(COL27A1):c.297A>G (p.Ala99=)
|
|
|
NM_032888.4(COL27A1):c.2980-15G>A
|
|
|
NM_032888.4(COL27A1):c.2980-15G>C
|
|
|
NM_032888.4(COL27A1):c.2980-17G>T
|
|
|
NM_032888.4(COL27A1):c.2980-18C>T
|
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NM_032888.4(COL27A1):c.2980-18del
|
|
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NM_032888.4(COL27A1):c.2980-4A>G
|
|
|
NM_032888.4(COL27A1):c.2980-5C>T
|
rs2135522497
|
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NM_032888.4(COL27A1):c.2980-5del
|
|
|
NM_032888.4(COL27A1):c.2980-8T>C
|
|
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NM_032888.4(COL27A1):c.2980-9G>T
|
rs1389530210
|
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NM_032888.4(COL27A1):c.2985T>C (p.Phe995=)
|
|
|
NM_032888.4(COL27A1):c.3006C>T (p.Val1002=)
|
rs761346888
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NM_032888.4(COL27A1):c.3021C>T (p.Ile1007=)
|
|
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NM_032888.4(COL27A1):c.3022G>A (p.Val1008Met)
|
rs139143802
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NM_032888.4(COL27A1):c.3033+13G>C
|
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NM_032888.4(COL27A1):c.3033+16G>A
|
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NM_032888.4(COL27A1):c.3033+17G>A
|
rs774710723
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NM_032888.4(COL27A1):c.3033+17G>T
|
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NM_032888.4(COL27A1):c.3034-13G>C
|
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NM_032888.4(COL27A1):c.3034-7A>G
|
|
|
NM_032888.4(COL27A1):c.3034-9C>T
|
|
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NM_032888.4(COL27A1):c.3063C>A (p.Gly1021=)
|
rs752893883
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NM_032888.4(COL27A1):c.3078G>A (p.Lys1026=)
|
|
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NM_032888.4(COL27A1):c.3087+18A>G
|
|
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NM_032888.4(COL27A1):c.3087+19T>C
|
|
|
NM_032888.4(COL27A1):c.3087+20C>T
|
rs2135531701
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NM_032888.4(COL27A1):c.3088-4G>A
|
rs371259762
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NM_032888.4(COL27A1):c.3088-4G>T
|
rs371259762
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NM_032888.4(COL27A1):c.3088-5G>C
|
rs1443835101
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NM_032888.4(COL27A1):c.3108T>C (p.Gly1036=)
|
|
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NM_032888.4(COL27A1):c.3120C>A (p.Thr1040=)
|
rs2135532727
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NM_032888.4(COL27A1):c.3126A>G (p.Gly1042=)
|
rs2135532810
|
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NM_032888.4(COL27A1):c.3129G>A (p.Glu1043=)
|
|
|
NM_032888.4(COL27A1):c.312C>G (p.Leu104=)
|
rs760243902
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NM_032888.4(COL27A1):c.3135A>G (p.Gly1045=)
|
|
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NM_032888.4(COL27A1):c.3141+10G>A
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|
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NM_032888.4(COL27A1):c.3141+15C>T
|
|
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NM_032888.4(COL27A1):c.3141+16G>A
|
|
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NM_032888.4(COL27A1):c.3141+18G>T
|
|
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NM_032888.4(COL27A1):c.3141+19A>G
|
|
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NM_032888.4(COL27A1):c.3142-10C>A
|
rs750140408
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NM_032888.4(COL27A1):c.3142-11C>T
|
|
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NM_032888.4(COL27A1):c.3142-15_3142-12del
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|
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NM_032888.4(COL27A1):c.3142-17C>T
|
|
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NM_032888.4(COL27A1):c.3142-18T>C
|
|
|
NM_032888.4(COL27A1):c.3142-5C>T
|
|
|
NM_032888.4(COL27A1):c.3144T>C (p.Gly1048=)
|
|
|
NM_032888.4(COL27A1):c.3147T>C (p.Pro1049=)
|
rs2135560523
|
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NM_032888.4(COL27A1):c.3153A>C (p.Gly1051=)
|
rs1352599738
|
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NM_032888.4(COL27A1):c.3156T>C (p.Ser1052=)
|
|
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NM_032888.4(COL27A1):c.3177G>A (p.Arg1059=)
|
rs2135560741
|
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NM_032888.4(COL27A1):c.3186G>A (p.Lys1062=)
|
|
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NM_032888.4(COL27A1):c.3189A>T (p.Gly1063=)
|
rs2135560763
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NM_032888.4(COL27A1):c.3195+12C>A
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NM_032888.4(COL27A1):c.3195+16C>T
|
|
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NM_032888.4(COL27A1):c.3195+7C>G
|
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NM_032888.4(COL27A1):c.3195+8G>T
|
rs75890035
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NM_032888.4(COL27A1):c.3196-16C>T
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NM_032888.4(COL27A1):c.3196-4C>A
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|
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NM_032888.4(COL27A1):c.3196-8T>C
|
|
|
NM_032888.4(COL27A1):c.3196-8dup
|
|
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NM_032888.4(COL27A1):c.3198C>T (p.Gly1066=)
|
|
|
NM_032888.4(COL27A1):c.3201C>G (p.Pro1067=)
|
rs2135591234
|
|
NM_032888.4(COL27A1):c.3210G>A (p.Pro1070=)
|
rs149608372
|
|
NM_032888.4(COL27A1):c.3210G>C (p.Pro1070=)
|
rs149608372
|
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NM_032888.4(COL27A1):c.321C>T (p.His107=)
|
rs1380503649
|
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NM_032888.4(COL27A1):c.3234G>A (p.Gly1078=)
|
|
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NM_032888.4(COL27A1):c.3234G>C (p.Gly1078=)
|
|
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NM_032888.4(COL27A1):c.323G>C (p.Arg108Pro)
|
|
|
NM_032888.4(COL27A1):c.3243C>T (p.Gly1081=)
|
|
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NM_032888.4(COL27A1):c.3244C>T (p.Leu1082=)
|
|
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NM_032888.4(COL27A1):c.3249+16A>C
|
|
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NM_032888.4(COL27A1):c.3249+18C>G
|
|
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NM_032888.4(COL27A1):c.3249+9C>T
|
rs1834584674
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NM_032888.4(COL27A1):c.324G>A (p.Arg108=)
|
rs2135071307
|
|
NM_032888.4(COL27A1):c.3250-10C>T
|
rs2135594025
|
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NM_032888.4(COL27A1):c.3250-11G>A
|
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NM_032888.4(COL27A1):c.3250-15C>T
|
|
|
NM_032888.4(COL27A1):c.3250-19C>T
|
|
|
NM_032888.4(COL27A1):c.3258A>G (p.Pro1086=)
|
rs1834629457
|
|
NM_032888.4(COL27A1):c.3276G>T (p.Pro1092=)
|
rs140175927
|
|
NM_032888.4(COL27A1):c.3282G>A (p.Arg1094=)
|
rs2135594301
|
|
NM_032888.4(COL27A1):c.3288A>G (p.Gly1096=)
|
|
|
NM_032888.4(COL27A1):c.3291G>A (p.Gln1097=)
|
rs1434815944
|
|
NM_032888.4(COL27A1):c.3294+10G>T
|
|
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NM_032888.4(COL27A1):c.3294+16G>A
|
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NM_032888.4(COL27A1):c.3294+16G>C
|
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NM_032888.4(COL27A1):c.3294+7C>T
|
|
|
NM_032888.4(COL27A1):c.3295-12A>G
|
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NM_032888.4(COL27A1):c.3295-13C>T
|
|
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NM_032888.4(COL27A1):c.3295-15C>G
|
|
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NM_032888.4(COL27A1):c.3295-15C>T
|
|
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NM_032888.4(COL27A1):c.3295-19C>A
|
|
|
NM_032888.4(COL27A1):c.3295-4C>G
|
rs1834640611
|
|
NM_032888.4(COL27A1):c.3312A>G (p.Arg1104=)
|
|
|
NM_032888.4(COL27A1):c.3318C>T (p.His1106=)
|
|
|
NM_032888.4(COL27A1):c.3319T>C (p.Leu1107=)
|
|
|
NM_032888.4(COL27A1):c.3327G>A (p.Ser1109=)
|
rs201604319
|
|
NM_032888.4(COL27A1):c.3327G>C (p.Ser1109=)
|
rs201604319
|
|
NM_032888.4(COL27A1):c.3327G>T (p.Ser1109=)
|
rs201604319
|
|
NM_032888.4(COL27A1):c.3333C>G (p.Gly1111=)
|
|
|
NM_032888.4(COL27A1):c.3339+14del
|
|
|
NM_032888.4(COL27A1):c.3339+16T>C
|
|
|
NM_032888.4(COL27A1):c.3339+17C>A
|
|
|
NM_032888.4(COL27A1):c.3339+18T>G
|
|
|
NM_032888.4(COL27A1):c.3339+20G>A
|
|
|
NM_032888.4(COL27A1):c.3339+9_3339+10delinsTT
|
rs2135595153
|
|
NM_032888.4(COL27A1):c.3340-10G>T
|
|
|
NM_032888.4(COL27A1):c.3340-4G>T
|
|
|
NM_032888.4(COL27A1):c.3340-8C>T
|
|
|
NM_032888.4(COL27A1):c.3348G>T (p.Pro1116=)
|
rs779262299
|
|
NM_032888.4(COL27A1):c.3354C>T (p.Pro1118=)
|
|
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NM_032888.4(COL27A1):c.3360C>A (p.Gly1120=)
|
|
|
NM_032888.4(COL27A1):c.3375G>A (p.Lys1125=)
|
|
|
NM_032888.4(COL27A1):c.3378C>T (p.Gly1126=)
|
|
|
NM_032888.4(COL27A1):c.3393+17T>C
|
rs2135597148
|
|
NM_032888.4(COL27A1):c.3394-13G>C
|
|
|
NM_032888.4(COL27A1):c.3394-18TGTC[2]
|
|
|
NM_032888.4(COL27A1):c.3394-18TGTC[4]
|
rs1554820586
|
|
NM_032888.4(COL27A1):c.3402G>A (p.Gln1134=)
|
rs2135601925
|
|
NM_032888.4(COL27A1):c.3423G>A (p.Gly1141=)
|
|
|
NM_032888.4(COL27A1):c.3423G>T (p.Gly1141=)
|
|
|
NM_032888.4(COL27A1):c.3441A>T (p.Gly1147=)
|
|
|
NM_032888.4(COL27A1):c.3447+11G>A
|
|
|
NM_032888.4(COL27A1):c.3447+13G>A
|
|
|
NM_032888.4(COL27A1):c.3447+17C>G
|
|
|
NM_032888.4(COL27A1):c.3447+17C>T
|
|
|
NM_032888.4(COL27A1):c.3447+17dup
|
|
|
NM_032888.4(COL27A1):c.3447+22_3447+30del
|
|
|
NM_032888.4(COL27A1):c.3448-14G>T
|
|
|
NM_032888.4(COL27A1):c.3448-16T>C
|
|
|
NM_032888.4(COL27A1):c.3450G>A (p.Gly1150=)
|
|
|
NM_032888.4(COL27A1):c.3453G>A (p.Pro1151=)
|
rs377713952
|
|
NM_032888.4(COL27A1):c.3453G>T (p.Pro1151=)
|
rs377713952
|
|
NM_032888.4(COL27A1):c.3459T>C (p.Gly1153=)
|
rs1211942742
|
|
NM_032888.4(COL27A1):c.3462A>G (p.Ala1154=)
|
|
|
NM_032888.4(COL27A1):c.3474G>A (p.Pro1158=)
|
rs930512491
|
|
NM_032888.4(COL27A1):c.3474G>C (p.Pro1158=)
|
rs930512491
|
|
NM_032888.4(COL27A1):c.3477C>A (p.Gly1159=)
|
rs571291463
|
|
NM_032888.4(COL27A1):c.3477C>G (p.Gly1159=)
|
|
|
NM_032888.4(COL27A1):c.3495G>A (p.Gly1165=)
|
rs2135609810
|
|
NM_032888.4(COL27A1):c.3501+10G>A
|
rs2135609916
|
|
NM_032888.4(COL27A1):c.3501+13G>A
|
|
|
NM_032888.4(COL27A1):c.3501+17G>C
|
|
|
NM_032888.4(COL27A1):c.3501+20G>A
|
|
|
NM_032888.4(COL27A1):c.3502-13C>T
|
|
|
NM_032888.4(COL27A1):c.3502-4C>G
|
rs372355045
|
|
NM_032888.4(COL27A1):c.3502-5C>T
|
rs1834956919
|
|
NM_032888.4(COL27A1):c.3502-7C>T
|
rs2135622809
|
|
NM_032888.4(COL27A1):c.3502-8del
|
rs2135622797
|
|
NM_032888.4(COL27A1):c.3525T>C (p.Thr1175=)
|
rs2135623044
|
|
NM_032888.4(COL27A1):c.3543C>T (p.Leu1181=)
|
|
|
NM_032888.4(COL27A1):c.3549G>A (p.Gly1183=)
|
|
|
NM_032888.4(COL27A1):c.354C>T (p.Arg118=)
|
rs775558821
|
|
NM_032888.4(COL27A1):c.3555+10A>G
|
rs1588833658
|
|
NM_032888.4(COL27A1):c.3555+10del
|
|
|
NM_032888.4(COL27A1):c.3555+11G>C
|
|
|
NM_032888.4(COL27A1):c.3555+14A>G
|
|
|
NM_032888.4(COL27A1):c.3555+16T>G
|
|
|
NM_032888.4(COL27A1):c.3555+9_3555+20del
|
rs2135623417
|
|
NM_032888.4(COL27A1):c.3556-9C>T
|
|
|
NM_032888.4(COL27A1):c.3556-9del
|
rs1434567064
|
|
NM_032888.4(COL27A1):c.3567C>A (p.Gly1189=)
|
rs781010065
|
|
NM_032888.4(COL27A1):c.3567C>G (p.Gly1189=)
|
rs781010065
|
|
NM_032888.4(COL27A1):c.3573G>A (p.Glu1191=)
|
|
|
NM_032888.4(COL27A1):c.3576T>G (p.Gly1192=)
|
|
|
NM_032888.4(COL27A1):c.3579C>T (p.Asp1193=)
|
|
|
NM_032888.4(COL27A1):c.3594A>T (p.Gly1198=)
|
|
|
NM_032888.4(COL27A1):c.3597T>C (p.Pro1199=)
|
|
|
NM_032888.4(COL27A1):c.3609+10C>G
|
rs777002311
|
|
NM_032888.4(COL27A1):c.3609+10C>T
|
rs777002311
|
|
NM_032888.4(COL27A1):c.3609+12T>C
|
|
|
NM_032888.4(COL27A1):c.3609+20del
|
|
|
NM_032888.4(COL27A1):c.3609+9C>T
|
|
|
NM_032888.4(COL27A1):c.3610-12C>A
|
|
|
NM_032888.4(COL27A1):c.3610-16A>T
|
|
|
NM_032888.4(COL27A1):c.3610-20C>A
|
|
|
NM_032888.4(COL27A1):c.3610-20C>T
|
|
|
NM_032888.4(COL27A1):c.3610-4C>G
|
|
|
NM_032888.4(COL27A1):c.3610-8C>T
|
rs1346957370
|
|
NM_032888.4(COL27A1):c.3612G>A (p.Gly1204=)
|
|
|
NM_032888.4(COL27A1):c.3615C>T (p.Asp1205=)
|
rs2135666072
|
|
NM_032888.4(COL27A1):c.3627A>C (p.Pro1209=)
|
rs2135666179
|
|
NM_032888.4(COL27A1):c.3630G>C (p.Gly1210=)
|
rs756863578
|
|
NM_032888.4(COL27A1):c.363A>G (p.Lys121=)
|
rs1322505916
|
|
NM_032888.4(COL27A1):c.3642A>G (p.Glu1214=)
|
|
|
NM_032888.4(COL27A1):c.3645T>C (p.His1215=)
|
|
|
NM_032888.4(COL27A1):c.3651G>A (p.Glu1217=)
|
rs868486393
|
|
NM_032888.4(COL27A1):c.3685C>T (p.Pro1229Ser)
|
|
|
NM_032888.4(COL27A1):c.3687C>T (p.Pro1229=)
|
|
|
NM_032888.4(COL27A1):c.3693C>A (p.Gly1231=)
|
rs1270271257
|
|
NM_032888.4(COL27A1):c.3693C>G (p.Gly1231=)
|
|
|
NM_032888.4(COL27A1):c.3693C>T (p.Gly1231=)
|
|
|
NM_032888.4(COL27A1):c.3699T>A (p.Pro1233=)
|
|
|
NM_032888.4(COL27A1):c.3699T>C (p.Pro1233=)
|
|
|
NM_032888.4(COL27A1):c.3705C>T (p.Val1235=)
|
|
|
NM_032888.4(COL27A1):c.3717+11A>G
|
|
|
NM_032888.4(COL27A1):c.3717+16C>G
|
|
|
NM_032888.4(COL27A1):c.3717+16C>T
|
|
|
NM_032888.4(COL27A1):c.3717+17C>T
|
|
|
NM_032888.4(COL27A1):c.3717+20G>A
|
|
|
NM_032888.4(COL27A1):c.3718-12C>T
|
|
|
NM_032888.4(COL27A1):c.3718-13C>T
|
|
|
NM_032888.4(COL27A1):c.3718-15C>T
|
|
|
NM_032888.4(COL27A1):c.3718-6C>T
|
rs2135701803
|
|
NM_032888.4(COL27A1):c.3718-7T>C
|
rs1588865280
|
|
NM_032888.4(COL27A1):c.372G>T (p.Leu124=)
|
|
|
NM_032888.4(COL27A1):c.3735A>G (p.Ser1245=)
|
|
|
NM_032888.4(COL27A1):c.3738G>A (p.Gly1246=)
|
rs531450041
|
|
NM_032888.4(COL27A1):c.3738G>C (p.Gly1246=)
|
|
|
NM_032888.4(COL27A1):c.3747C>G (p.Gly1249=)
|
|
|
NM_032888.4(COL27A1):c.3756C>A (p.Gly1252=)
|
rs2135701982
|
|
NM_032888.4(COL27A1):c.3771+10C>G
|
rs370592567
|
|
NM_032888.4(COL27A1):c.3771+10C>T
|
rs370592567
|
|
NM_032888.4(COL27A1):c.3771+16T>C
|
|
|
NM_032888.4(COL27A1):c.3771+17G>T
|
|
|
NM_032888.4(COL27A1):c.3772-10C>G
|
rs1835978364
|
|
NM_032888.4(COL27A1):c.3772-12C>T
|
|
|
NM_032888.4(COL27A1):c.3774T>A (p.Gly1258=)
|
|
|
NM_032888.4(COL27A1):c.3780G>A (p.Lys1260=)
|
rs2135702928
|
|
NM_032888.4(COL27A1):c.3783C>T (p.Gly1261=)
|
|
|
NM_032888.4(COL27A1):c.3825T>A (p.Pro1275=)
|
|
|
NM_032888.4(COL27A1):c.3834T>G (p.Pro1278=)
|
|
|
NM_032888.4(COL27A1):c.3840T>C (p.Thr1280=)
|
|
|
NM_032888.4(COL27A1):c.3849T>C (p.Pro1283=)
|
|
|
NM_032888.4(COL27A1):c.3864C>T (p.Gly1288=)
|
|
|
NM_032888.4(COL27A1):c.3868C>T (p.Leu1290=)
|
|
|
NM_032888.4(COL27A1):c.3876A>G (p.Pro1292=)
|
rs2135703556
|
|
NM_032888.4(COL27A1):c.3879+10C>G
|
rs1835989104
|
|
NM_032888.4(COL27A1):c.3879+12C>G
|
|
|
NM_032888.4(COL27A1):c.3879+18G>A
|
|
|
NM_032888.4(COL27A1):c.3879+19G>C
|
|
|
NM_032888.4(COL27A1):c.3880-12C>T
|
|
|
NM_032888.4(COL27A1):c.3880-15C>G
|
|
|
NM_032888.4(COL27A1):c.3880-15CTC[2]
|
|
|
NM_032888.4(COL27A1):c.3880-17G>T
|
|
|
NM_032888.4(COL27A1):c.3880-18G>T
|
|
|
NM_032888.4(COL27A1):c.3880-6T>C
|
rs370181634
|
|
NM_032888.4(COL27A1):c.3885T>C (p.Ala1295=)
|
rs774308816
|
|
NM_032888.4(COL27A1):c.3906A>G (p.Gln1302=)
|
|
|
NM_032888.4(COL27A1):c.3933+12T>C
|
|
|
NM_032888.4(COL27A1):c.3933+14A>C
|
|
|
NM_032888.4(COL27A1):c.3933+15C>A
|
|
|
NM_032888.4(COL27A1):c.3933+16C>T
|
|
|
NM_032888.4(COL27A1):c.3933+20C>G
|
|
|
NM_032888.4(COL27A1):c.3933+20C>T
|
|
|
NM_032888.4(COL27A1):c.3934-13T>C
|
|
|
NM_032888.4(COL27A1):c.3934-15_3934-13del
|
|
|
NM_032888.4(COL27A1):c.3934-17T>G
|
|
|
NM_032888.4(COL27A1):c.3934-19C>T
|
|
|
NM_032888.4(COL27A1):c.3934-4G>A
|
|
|
NM_032888.4(COL27A1):c.3957C>T (p.Pro1319=)
|
rs2131600635
|
|
NM_032888.4(COL27A1):c.3966T>A (p.Pro1322=)
|
|
|
NM_032888.4(COL27A1):c.3969T>C (p.Pro1323=)
|
rs2131600708
|
|
NM_032888.4(COL27A1):c.3972A>C (p.Gly1324=)
|
rs147328458
|
|
NM_032888.4(COL27A1):c.3972A>G (p.Gly1324=)
|
rs147328458
|
|
NM_032888.4(COL27A1):c.3987+11G>A
|
|
|
NM_032888.4(COL27A1):c.3987+7G>A
|
rs2131600827
|
|
NM_032888.4(COL27A1):c.399C>G (p.Gly133=)
|
|
|
NM_032888.4(COL27A1):c.39G>A (p.Ala13=)
|
|
|
NM_032888.4(COL27A1):c.408C>A (p.Val136=)
|
rs146589272
|
|
NM_032888.4(COL27A1):c.408C>G (p.Val136=)
|
|
|
NM_032888.4(COL27A1):c.411C>A (p.Val137=)
|
rs2135072222
|
|
NM_032888.4(COL27A1):c.414C>T (p.His138=)
|
rs2135072287
|
|
NM_032888.4(COL27A1):c.417C>A (p.Leu139=)
|
|
|
NM_032888.4(COL27A1):c.4207-18T>C
|
|
|
NM_032888.4(COL27A1):c.4207-4T>G
|
|
|
NM_032888.4(COL27A1):c.420G>A (p.Gly140=)
|
|
|
NM_032888.4(COL27A1):c.420G>T (p.Gly140=)
|
rs1418892658
|
|
NM_032888.4(COL27A1):c.4215G>A (p.Lys1405=)
|
|
|
NM_032888.4(COL27A1):c.4230G>A (p.Lys1410=)
|
rs2131623125
|
|
NM_032888.4(COL27A1):c.4236G>A (p.Gly1412=)
|
rs2131623167
|
|
NM_032888.4(COL27A1):c.423C>T (p.Ser141=)
|
rs2135072423
|
|
NM_032888.4(COL27A1):c.4248G>T (p.Arg1416=)
|
rs2131623270
|
|
NM_032888.4(COL27A1):c.4251G>A (p.Arg1417=)
|
|
|
NM_032888.4(COL27A1):c.4257C>G (p.Val1419=)
|
rs2131623350
|
|
NM_032888.4(COL27A1):c.4257C>T (p.Val1419=)
|
|
|
NM_032888.4(COL27A1):c.4260+13A>G
|
|
|
NM_032888.4(COL27A1):c.4260+14G>C
|
|
|
NM_032888.4(COL27A1):c.4260+15C>G
|
|
|
NM_032888.4(COL27A1):c.4260+17G>A
|
|
|
NM_032888.4(COL27A1):c.4261-11G>A
|
|
|
NM_032888.4(COL27A1):c.4261-19C>A
|
|
|
NM_032888.4(COL27A1):c.4261-19C>T
|
|
|
NM_032888.4(COL27A1):c.4261-3dup
|
rs1272299980
|
|
NM_032888.4(COL27A1):c.4261-4C>T
|
|
|
NM_032888.4(COL27A1):c.4261-5C>G
|
|
|
NM_032888.4(COL27A1):c.4261-6C>T
|
|
|
NM_032888.4(COL27A1):c.4261-7C>A
|
|
|
NM_032888.4(COL27A1):c.4261-7C>T
|
rs372705586
|
|
NM_032888.4(COL27A1):c.4261-8C>A
|
|
|
NM_032888.4(COL27A1):c.4261-9A>G
|
|
|
NM_032888.4(COL27A1):c.4263C>T (p.Gly1421=)
|
|
|
NM_032888.4(COL27A1):c.426G>A (p.Arg142=)
|
|
|
NM_032888.4(COL27A1):c.4272G>A (p.Gly1424=)
|
|
|
NM_032888.4(COL27A1):c.4275G>A (p.Leu1425=)
|
|
|
NM_032888.4(COL27A1):c.4275G>T (p.Leu1425=)
|
|
|
NM_032888.4(COL27A1):c.4281G>A (p.Gly1427=)
|
rs2131624301
|
|
NM_032888.4(COL27A1):c.4285C>A (p.Arg1429=)
|
rs200170613
|
|
NM_032888.4(COL27A1):c.4296G>A (p.Val1432=)
|
rs1186150376
|
|
NM_032888.4(COL27A1):c.4299G>A (p.Gly1433=)
|
|
|
NM_032888.4(COL27A1):c.4299G>T (p.Gly1433=)
|
|
|
NM_032888.4(COL27A1):c.42G>A (p.Ala14=)
|
|
|
NM_032888.4(COL27A1):c.42G>T (p.Ala14=)
|
rs1848094842
|
|
NM_032888.4(COL27A1):c.4305G>A (p.Gln1435=)
|
|
|
NM_032888.4(COL27A1):c.4308C>T (p.Gly1436=)
|
|
|
NM_032888.4(COL27A1):c.4311C>A (p.Leu1437=)
|
rs769625189
|
|
NM_032888.4(COL27A1):c.4311C>G (p.Leu1437=)
|
rs769625189
|
|
NM_032888.4(COL27A1):c.4311C>T (p.Leu1437=)
|
rs769625189
|
|
NM_032888.4(COL27A1):c.4317C>T (p.Gly1439=)
|
|
|
NM_032888.4(COL27A1):c.4347G>A (p.Arg1449=)
|
rs2131624777
|
|
NM_032888.4(COL27A1):c.4368+15G>C
|
|
|
NM_032888.4(COL27A1):c.4369-11T>C
|
|
|
NM_032888.4(COL27A1):c.4369-13G>T
|
|
|
NM_032888.4(COL27A1):c.4369-19C>A
|
|
|
NM_032888.4(COL27A1):c.4369-7T>C
|
|
|
NM_032888.4(COL27A1):c.4374G>A (p.Glu1458=)
|
rs1827860254
|
|
NM_032888.4(COL27A1):c.4389G>C (p.Gly1463=)
|
|
|
NM_032888.4(COL27A1):c.438C>T (p.Ala146=)
|
|
|
NM_032888.4(COL27A1):c.4392C>T (p.Asp1464=)
|
|
|
NM_032888.4(COL27A1):c.4398C>A (p.Gly1466=)
|
rs1238571660
|
|
NM_032888.4(COL27A1):c.4443C>T (p.Gly1481=)
|
|
|
NM_032888.4(COL27A1):c.4452A>G (p.Gly1484=)
|
rs2131627370
|
|
NM_032888.4(COL27A1):c.4464C>G (p.Pro1488=)
|
|
|
NM_032888.4(COL27A1):c.4470A>G (p.Gly1490=)
|
rs2131627480
|
|
NM_032888.4(COL27A1):c.4476+14del
|
|
|
NM_032888.4(COL27A1):c.4476+20A>G
|
|
|
NM_032888.4(COL27A1):c.4477-13G>T
|
|
|
NM_032888.4(COL27A1):c.4477-5T>C
|
|
|
NM_032888.4(COL27A1):c.4477-7C>A
|
rs2131632589
|
|
NM_032888.4(COL27A1):c.4477-7C>T
|
rs2131632589
|
|
NM_032888.4(COL27A1):c.4479T>A (p.Gly1493=)
|
rs1588883937
|
|
NM_032888.4(COL27A1):c.4488G>A (p.Gly1496=)
|
rs2131632666
|
|
NM_032888.4(COL27A1):c.4494C>G (p.Pro1498=)
|
|
|
NM_032888.4(COL27A1):c.4501C>T (p.Leu1501=)
|
|
|
NM_032888.4(COL27A1):c.4503G>A (p.Leu1501=)
|
|
|
NM_032888.4(COL27A1):c.4509C>T (p.Pro1503=)
|
|
|
NM_032888.4(COL27A1):c.4515C>A (p.Gly1505=)
|
|
|
NM_032888.4(COL27A1):c.4515C>G (p.Gly1505=)
|
rs1215346305
|
|
NM_032888.4(COL27A1):c.4542G>A (p.Gly1514=)
|
|
|
NM_032888.4(COL27A1):c.4551A>G (p.Gly1517=)
|
rs774706427
|
|
NM_032888.4(COL27A1):c.4560G>A (p.Gly1520=)
|
rs983216780
|
|
NM_032888.4(COL27A1):c.4569G>A (p.Gly1523=)
|
|
|
NM_032888.4(COL27A1):c.4569G>T (p.Gly1523=)
|
|
|
NM_032888.4(COL27A1):c.4584+10C>A
|
|
|
NM_032888.4(COL27A1):c.4584+11G>A
|
|
|
NM_032888.4(COL27A1):c.4584+11G>C
|
|
|
NM_032888.4(COL27A1):c.4584+14A>G
|
|
|
NM_032888.4(COL27A1):c.4585-11T>C
|
|
|
NM_032888.4(COL27A1):c.4585-12T>C
|
|
|
NM_032888.4(COL27A1):c.4585-13G>C
|
|
|
NM_032888.4(COL27A1):c.4585-4G>T
|
|
|
NM_032888.4(COL27A1):c.4585-5T>C
|
rs776600654
|
|
NM_032888.4(COL27A1):c.4585-7C>G
|
|
|
NM_032888.4(COL27A1):c.4587C>T (p.Gly1529=)
|
|
|
NM_032888.4(COL27A1):c.4593T>A (p.Ser1531=)
|
rs2131658983
|
|
NM_032888.4(COL27A1):c.4596C>A (p.Gly1532=)
|
|
|
NM_032888.4(COL27A1):c.45G>A (p.Ala15=)
|
rs2134975860
|
|
NM_032888.4(COL27A1):c.4638+12C>G
|
|
|
NM_032888.4(COL27A1):c.4638+14C>G
|
|
|
NM_032888.4(COL27A1):c.4638+14C>T
|
|
|
NM_032888.4(COL27A1):c.4638+15G>A
|
|
|
NM_032888.4(COL27A1):c.4638+15G>T
|
|
|
NM_032888.4(COL27A1):c.4638+9T>C
|
|
|
NM_032888.4(COL27A1):c.4639-10C>T
|
rs1289037697
|
|
NM_032888.4(COL27A1):c.4639-13C>T
|
|
|
NM_032888.4(COL27A1):c.4639-14T>A
|
|
|
NM_032888.4(COL27A1):c.4639-14T>G
|
|
|
NM_032888.4(COL27A1):c.4639-15C>A
|
|
|
NM_032888.4(COL27A1):c.4639-15C>T
|
|
|
NM_032888.4(COL27A1):c.4639-20C>T
|
rs754309718
|
|
NM_032888.4(COL27A1):c.4639-7C>T
|
rs2131661060
|
|
NM_032888.4(COL27A1):c.4639-9C>A
|
|
|
NM_032888.4(COL27A1):c.4639-9C>T
|
|
|
NM_032888.4(COL27A1):c.4644G>T (p.Pro1548=)
|
rs758523198
|
|
NM_032888.4(COL27A1):c.4662C>T (p.Phe1554=)
|
rs1828551354
|
|
NM_032888.4(COL27A1):c.4671C>A (p.Ile1557=)
|
|
|
NM_032888.4(COL27A1):c.4680T>C (p.Pro1560=)
|
|
|
NM_032888.4(COL27A1):c.4686G>A (p.Gly1562=)
|
rs773127115
|
|
NM_032888.4(COL27A1):c.4689A>G (p.Pro1563=)
|
rs2131661311
|
|
NM_032888.4(COL27A1):c.4692T>C (p.Pro1564=)
|
rs2131661320
|
|
NM_032888.4(COL27A1):c.4701+12C>A
|
|
|
NM_032888.4(COL27A1):c.4701+14C>T
|
|
|
NM_032888.4(COL27A1):c.4701+7T>A
|
rs2131661346
|
|
NM_032888.4(COL27A1):c.4701+7T>C
|
rs2131661346
|
|
NM_032888.4(COL27A1):c.4701+8C>A
|
|
|
NM_032888.4(COL27A1):c.4702-16T>C
|
|
|
NM_032888.4(COL27A1):c.4702-17del
|
|
|
NM_032888.4(COL27A1):c.4702-18C>T
|
|
|
NM_032888.4(COL27A1):c.4702-19G>A
|
|
|
NM_032888.4(COL27A1):c.4702-7C>G
|
rs1315583860
|
|
NM_032888.4(COL27A1):c.4713C>A (p.Gly1571=)
|
|
|
NM_032888.4(COL27A1):c.4713C>T (p.Gly1571=)
|
|
|
NM_032888.4(COL27A1):c.4717G>A (p.Val1573Ile)
|
|
|
NM_032888.4(COL27A1):c.471C>T (p.His157=)
|
rs2135072983
|
|
NM_032888.4(COL27A1):c.4722G>T (p.Gly1574=)
|
|
|
NM_032888.4(COL27A1):c.4728C>A (p.Leu1576=)
|
|
|
NM_032888.4(COL27A1):c.4737G>A (p.Leu1579=)
|
|
|
NM_032888.4(COL27A1):c.4746G>C (p.Ser1582=)
|
|
|
NM_032888.4(COL27A1):c.4752C>T (p.Leu1584=)
|
rs182652506
|
|
NM_032888.4(COL27A1):c.4755+13A>T
|
|
|
NM_032888.4(COL27A1):c.4755+14T>C
|
|
|
NM_032888.4(COL27A1):c.4755+20A>G
|
|
|
NM_032888.4(COL27A1):c.4755+7G>A
|
|
|
NM_032888.4(COL27A1):c.4755+7G>T
|
rs1043216733
|
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NM_032888.4(COL27A1):c.4756-10T>A
|
|
|
NM_032888.4(COL27A1):c.4756-13dup
|
|
|
NM_032888.4(COL27A1):c.4756-14G>A
|
|
|
NM_032888.4(COL27A1):c.4756-16C>T
|
|
|
NM_032888.4(COL27A1):c.4756-17G>T
|
|
|
NM_032888.4(COL27A1):c.4756-4G>A
|
|
|
NM_032888.4(COL27A1):c.4756-4G>T
|
|
|
NM_032888.4(COL27A1):c.475C>T (p.Leu159=)
|
rs1277126499
|
|
NM_032888.4(COL27A1):c.4770C>T (p.Asp1590=)
|
|
|
NM_032888.4(COL27A1):c.4779C>T (p.Ser1593=)
|
rs1291141123
|
|
NM_032888.4(COL27A1):c.4785G>A (p.Gly1595=)
|
|
|
NM_032888.4(COL27A1):c.4791+11G>C
|
|
|
NM_032888.4(COL27A1):c.4791+14C>G
|
|
|
NM_032888.4(COL27A1):c.4791+16G>A
|
rs2131663858
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NM_032888.4(COL27A1):c.4791+7G>A
|
rs1416934709
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NM_032888.4(COL27A1):c.4791+7G>C
|
rs1416934709
|
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NM_032888.4(COL27A1):c.4791+8G>A
|
|
|
NM_032888.4(COL27A1):c.4792-10C>A
|
|
|
NM_032888.4(COL27A1):c.4792-10C>T
|
rs956818580
|
|
NM_032888.4(COL27A1):c.4792-4C>G
|
rs1164984933
|
|
NM_032888.4(COL27A1):c.4792-7C>A
|
|
|
NM_032888.4(COL27A1):c.4792-8C>T
|
rs2131664328
|
|
NM_032888.4(COL27A1):c.4795T>C (p.Leu1599=)
|
rs1386392461
|
|
NM_032888.4(COL27A1):c.4800A>G (p.Gln1600=)
|
rs1588896002
|
|
NM_032888.4(COL27A1):c.4809+19A>G
|
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NM_032888.4(COL27A1):c.4809+8G>C
|
|
|
NM_032888.4(COL27A1):c.4809+9G>A
|
|
|
NM_032888.4(COL27A1):c.4810-10G>A
|
rs777481360
|
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NM_032888.4(COL27A1):c.4810-13C>G
|
|
|
NM_032888.4(COL27A1):c.4810-15C>T
|
|
|
NM_032888.4(COL27A1):c.4818C>T (p.Pro1606=)
|
rs529138775
|
|
NM_032888.4(COL27A1):c.4821C>T (p.Gly1607=)
|
|
|
NM_032888.4(COL27A1):c.4830G>A (p.Gly1610=)
|
|
|
NM_032888.4(COL27A1):c.4833G>T (p.Arg1611=)
|
rs2131665657
|
|
NM_032888.4(COL27A1):c.4842C>T (p.Pro1614=)
|
|
|
NM_032888.4(COL27A1):c.4845+13G>C
|
|
|
NM_032888.4(COL27A1):c.4845+15G>A
|
|
|
NM_032888.4(COL27A1):c.4845+17T>C
|
|
|
NM_032888.4(COL27A1):c.4845+20G>A
|
|
|
NM_032888.4(COL27A1):c.4845+20G>T
|
|
|
NM_032888.4(COL27A1):c.4845+7A>G
|
rs2131665815
|
|
NM_032888.4(COL27A1):c.4846-14dup
|
|
|
NM_032888.4(COL27A1):c.4846-15A>T
|
|
|
NM_032888.4(COL27A1):c.4846-17G>T
|
|
|
NM_032888.4(COL27A1):c.4846-18C>T
|
|
|
NM_032888.4(COL27A1):c.4846-18_4846-16del
|
|
|
NM_032888.4(COL27A1):c.4846-19C>A
|
|
|
NM_032888.4(COL27A1):c.4846-20C>A
|
|
|
NM_032888.4(COL27A1):c.4846-6T>C
|
rs571326418
|
|
NM_032888.4(COL27A1):c.4854A>G (p.Pro1618=)
|
rs1187684738
|
|
NM_032888.4(COL27A1):c.4863T>C (p.Pro1621=)
|
rs2131667503
|
|
NM_032888.4(COL27A1):c.4869A>G (p.Gln1623=)
|
|
|
NM_032888.4(COL27A1):c.4872+11_4872+12del
|
|
|
NM_032888.4(COL27A1):c.4872+13C>T
|
|
|
NM_032888.4(COL27A1):c.4872+16_4872+27del
|
|
|
NM_032888.4(COL27A1):c.4872+19C>T
|
|
|
NM_032888.4(COL27A1):c.4872+20T>C
|
|
|
NM_032888.4(COL27A1):c.4873-10C>T
|
|
|
NM_032888.4(COL27A1):c.4873-11T>C
|
|
|
NM_032888.4(COL27A1):c.4873-15C>T
|
|
|
NM_032888.4(COL27A1):c.4873-3del
|
|
|
NM_032888.4(COL27A1):c.4873-8T>G
|
rs2131678113
|
|
NM_032888.4(COL27A1):c.4873-8_4873-5dup
|
rs2131678104
|
|
NM_032888.4(COL27A1):c.4881T>C (p.Asp1627=)
|
rs2131678159
|
|
NM_032888.4(COL27A1):c.489C>A (p.Leu163=)
|
|
|
NM_032888.4(COL27A1):c.4905G>A (p.Thr1635=)
|
rs746766906
|
|
NM_032888.4(COL27A1):c.4905G>C (p.Thr1635=)
|
rs746766906
|
|
NM_032888.4(COL27A1):c.4905G>T (p.Thr1635=)
|
|
|
NM_032888.4(COL27A1):c.4920T>C (p.Ser1640=)
|
|
|
NM_032888.4(COL27A1):c.4929C>A (p.Leu1643=)
|
|
|
NM_032888.4(COL27A1):c.4929C>G (p.Leu1643=)
|
|
|
NM_032888.4(COL27A1):c.4932G>A (p.Arg1644=)
|
|
|
NM_032888.4(COL27A1):c.4935A>G (p.Pro1645=)
|
|
|
NM_032888.4(COL27A1):c.4938+11G>A
|
|
|
NM_032888.4(COL27A1):c.4938+13G>T
|
|
|
NM_032888.4(COL27A1):c.4938+19C>T
|
|
|
NM_032888.4(COL27A1):c.4938+8C>T
|
rs1828902542
|
|
NM_032888.4(COL27A1):c.4939-10C>T
|
rs2131686497
|
|
NM_032888.4(COL27A1):c.4939-11C>A
|
|
|
NM_032888.4(COL27A1):c.4939-15C>A
|
|
|
NM_032888.4(COL27A1):c.4939-16C>A
|
|
|
NM_032888.4(COL27A1):c.4939-16C>T
|
|
|
NM_032888.4(COL27A1):c.4939-17C>A
|
|
|
NM_032888.4(COL27A1):c.4939-17C>T
|
|
|
NM_032888.4(COL27A1):c.4939-9T>A
|
|
|
NM_032888.4(COL27A1):c.4939-9T>G
|
|
|
NM_032888.4(COL27A1):c.4944C>T (p.Tyr1648=)
|
|
|
NM_032888.4(COL27A1):c.4962G>A (p.Leu1654=)
|
rs1277485572
|
|
NM_032888.4(COL27A1):c.4965G>C (p.Val1655=)
|
|
|
NM_032888.4(COL27A1):c.4966C>T (p.Leu1656=)
|
|
|
NM_032888.4(COL27A1):c.4968G>C (p.Leu1656=)
|
|
|
NM_032888.4(COL27A1):c.4974G>A (p.Gln1658=)
|
|
|
NM_032888.4(COL27A1):c.4995C>T (p.Thr1665=)
|
rs2131686950
|
|
NM_032888.4(COL27A1):c.4998A>G (p.Leu1666=)
|
rs2131686965
|
|
NM_032888.4(COL27A1):c.5010C>T (p.Ser1670=)
|
rs2131687032
|
|
NM_032888.4(COL27A1):c.5031G>A (p.Lys1677=)
|
|
|
NM_032888.4(COL27A1):c.5034G>C (p.Thr1678=)
|
rs150455755
|
|
NM_032888.4(COL27A1):c.5034G>T (p.Thr1678=)
|
rs150455755
|
|
NM_032888.4(COL27A1):c.5040G>A (p.Leu1680=)
|
|
|
NM_032888.4(COL27A1):c.504C>G (p.Val168=)
|
|
|
NM_032888.4(COL27A1):c.5052G>A (p.Glu1684=)
|
rs1829068371
|
|
NM_032888.4(COL27A1):c.5061C>G (p.Ala1687=)
|
|
|
NM_032888.4(COL27A1):c.5061C>T (p.Ala1687=)
|
rs1829069483
|
|
NM_032888.4(COL27A1):c.5062C>A (p.Arg1688=)
|
|
|
NM_032888.4(COL27A1):c.5064G>C (p.Arg1688=)
|
|
|
NM_032888.4(COL27A1):c.5070C>T (p.Cys1690=)
|
|
|
NM_032888.4(COL27A1):c.5073G>A (p.Arg1691=)
|
rs778232133
|
|
NM_032888.4(COL27A1):c.5097G>A (p.Lys1699=)
|
rs770006255
|
|
NM_032888.4(COL27A1):c.5103G>A (p.Val1701=)
|
rs1441411577
|
|
NM_032888.4(COL27A1):c.5107+10C>T
|
rs774471629
|
|
NM_032888.4(COL27A1):c.5107+13C>T
|
|
|
NM_032888.4(COL27A1):c.5107+18C>G
|
|
|
NM_032888.4(COL27A1):c.5107+19G>A
|
|
|
NM_032888.4(COL27A1):c.5107+19G>C
|
|
|
NM_032888.4(COL27A1):c.5108-10C>T
|
rs2131692464
|
|
NM_032888.4(COL27A1):c.5108-11G>A
|
|
|
NM_032888.4(COL27A1):c.5108-12C>T
|
|
|
NM_032888.4(COL27A1):c.5108-15C>T
|
|
|
NM_032888.4(COL27A1):c.5108-16C>T
|
|
|
NM_032888.4(COL27A1):c.5108-20C>A
|
|
|
NM_032888.4(COL27A1):c.5124T>C (p.Asp1708=)
|
|
|
NM_032888.4(COL27A1):c.513G>T (p.Val171=)
|
|
|
NM_032888.4(COL27A1):c.5148C>T (p.Asp1716=)
|
rs772156182
|
|
NM_032888.4(COL27A1):c.5157G>A (p.Glu1719=)
|
|
|
NM_032888.4(COL27A1):c.5160C>T (p.Val1720=)
|
rs747111643
|
|
NM_032888.4(COL27A1):c.5166C>T (p.Cys1722=)
|
|
|
NM_032888.4(COL27A1):c.5190G>T (p.Thr1730=)
|
rs565315568
|
|
NM_032888.4(COL27A1):c.5199G>A (p.Lys1733=)
|
|
|
NM_032888.4(COL27A1):c.51G>A (p.Ala17=)
|
|
|
NM_032888.4(COL27A1):c.51G>C (p.Ala17=)
|
rs2134975917
|
|
NM_032888.4(COL27A1):c.5202C>G (p.Pro1734=)
|
|
|
NM_032888.4(COL27A1):c.5211C>T (p.Ala1737=)
|
rs1829161551
|
|
NM_032888.4(COL27A1):c.5214C>T (p.Ser1738=)
|
|
|
NM_032888.4(COL27A1):c.5217+12C>A
|
|
|
NM_032888.4(COL27A1):c.5217+13T>C
|
|
|
NM_032888.4(COL27A1):c.5217+17A>C
|
|
|
NM_032888.4(COL27A1):c.5217+18C>A
|
|
|
NM_032888.4(COL27A1):c.5218-11C>T
|
|
|
NM_032888.4(COL27A1):c.5218-12G>C
|
|
|
NM_032888.4(COL27A1):c.5218-12G>T
|
|
|
NM_032888.4(COL27A1):c.5218-15G>A
|
rs778106434
|
|
NM_032888.4(COL27A1):c.5218-16C>T
|
|
|
NM_032888.4(COL27A1):c.5218-18G>A
|
|
|
NM_032888.4(COL27A1):c.5218-6C>T
|
rs2131699184
|
|
NM_032888.4(COL27A1):c.5218-8C>A
|
rs745749882
|
|
NM_032888.4(COL27A1):c.5218-8C>G
|
|
|
NM_032888.4(COL27A1):c.5218-8C>T
|
rs745749882
|
|
NM_032888.4(COL27A1):c.5238G>C (p.Arg1746=)
|
rs2131699350
|
|
NM_032888.4(COL27A1):c.5241C>T (p.Val1747=)
|
|
|
NM_032888.4(COL27A1):c.5256G>T (p.Leu1752=)
|
|
|
NM_032888.4(COL27A1):c.5260C>T (p.Leu1754=)
|
rs2131699458
|
|
NM_032888.4(COL27A1):c.5262G>T (p.Leu1754=)
|
|
|
NM_032888.4(COL27A1):c.5265A>T (p.Leu1755=)
|
rs756236155
|
|
NM_032888.4(COL27A1):c.5271C>G (p.Ser1757=)
|
rs369369527
|
|
NM_032888.4(COL27A1):c.5271C>T (p.Ser1757=)
|
rs369369527
|
|
NM_032888.4(COL27A1):c.5280C>A (p.Thr1760=)
|
|
|
NM_032888.4(COL27A1):c.5283G>A (p.Gln1761=)
|
|
|
NM_032888.4(COL27A1):c.5289C>A (p.Ile1763=)
|
rs916291602
|
|
NM_032888.4(COL27A1):c.528G>A (p.Gln176=)
|
|
|
NM_032888.4(COL27A1):c.5292C>T (p.Thr1764=)
|
|
|
NM_032888.4(COL27A1):c.5293A>C (p.Ile1765Leu)
|
|
|
NM_032888.4(COL27A1):c.5295C>A (p.Ile1765=)
|
rs2131699738
|
|
NM_032888.4(COL27A1):c.5298C>T (p.His1766=)
|
|
|
NM_032888.4(COL27A1):c.5307C>T (p.Asn1769=)
|
rs2131699783
|
|
NM_032888.4(COL27A1):c.5325G>A (p.Glu1775=)
|
|
|
NM_032888.4(COL27A1):c.5349G>A (p.Lys1783=)
|
|
|
NM_032888.4(COL27A1):c.534G>A (p.Arg178=)
|
rs1357631501
|
|
NM_032888.4(COL27A1):c.5355C>A (p.Ala1785=)
|
rs377141342
|
|
NM_032888.4(COL27A1):c.5370C>G (p.Ala1790=)
|
rs1422999693
|
|
NM_032888.4(COL27A1):c.5376T>C (p.Asn1792=)
|
|
|
NM_032888.4(COL27A1):c.537G>A (p.Val179=)
|
rs1338570858
|
|
NM_032888.4(COL27A1):c.5397G>C (p.Gly1799=)
|
|
|
NM_032888.4(COL27A1):c.5415G>A (p.Glu1805=)
|
rs1270682536
|
|
NM_032888.4(COL27A1):c.5421_5422inv (p.Met1808Val)
|
|
|
NM_032888.4(COL27A1):c.5427T>C (p.Asp1809=)
|
|
|
NM_032888.4(COL27A1):c.5436+10A>G
|
|
|
NM_032888.4(COL27A1):c.5436+16C>A
|
|
|
NM_032888.4(COL27A1):c.5436+17C>G
|
|
|
NM_032888.4(COL27A1):c.5436+17C>T
|
|
|
NM_032888.4(COL27A1):c.5436+19C>T
|
|
|
NM_032888.4(COL27A1):c.5436+20C>G
|
|
|
NM_032888.4(COL27A1):c.5436+20C>T
|
|
|
NM_032888.4(COL27A1):c.5436+9C>G
|
|
|
NM_032888.4(COL27A1):c.5436+9C>T
|
|
|
NM_032888.4(COL27A1):c.5437-10C>A
|
|
|
NM_032888.4(COL27A1):c.5437-20A>C
|
|
|
NM_032888.4(COL27A1):c.5437-20A>G
|
|
|
NM_032888.4(COL27A1):c.5437-7C>T
|
|
|
NM_032888.4(COL27A1):c.5437-9T>C
|
rs2131705016
|
|
NM_032888.4(COL27A1):c.5439C>T (p.Val1813=)
|
|
|
NM_032888.4(COL27A1):c.543C>A (p.Val181=)
|
rs1588566349
|
|
NM_032888.4(COL27A1):c.543C>T (p.Val181=)
|
rs1588566349
|
|
NM_032888.4(COL27A1):c.5442A>G (p.Gln1814=)
|
|
|
NM_032888.4(COL27A1):c.5445T>C (p.Asp1815=)
|
|
|
NM_032888.4(COL27A1):c.544C>T (p.Leu182=)
|
|
|
NM_032888.4(COL27A1):c.5466C>G (p.Leu1822=)
|
|
|
NM_032888.4(COL27A1):c.5475C>T (p.Phe1825=)
|
rs1588912911
|
|
NM_032888.4(COL27A1):c.5478G>T (p.Arg1826=)
|
|
|
NM_032888.4(COL27A1):c.547C>T (p.Leu183=)
|
rs140616075
|
|
NM_032888.4(COL27A1):c.5481C>A (p.Thr1827=)
|
rs2131705192
|
|
NM_032888.4(COL27A1):c.5499G>T (p.Leu1833=)
|
|
|
NM_032888.4(COL27A1):c.549G>C (p.Leu183=)
|
rs2135074008
|
|
NM_032888.4(COL27A1):c.5523C>T (p.Leu1841=)
|
rs139634437
|
|
NM_032888.4(COL27A1):c.5526T>G (p.Pro1842=)
|
rs2131705418
|
|
NM_032888.4(COL27A1):c.5535A>G (p.Ser1845=)
|
rs2131705485
|
|
NM_032888.4(COL27A1):c.5556G>A (p.Leu1852=)
|
|
|
NM_032888.4(COL27A1):c.5568T>C (p.Pro1856=)
|
rs2131705637
|
|
NM_032888.4(COL27A1):c.5582G>A (p.Ter1861=)
|
rs1829387527
|
|
NM_032888.4(COL27A1):c.558C>T (p.His186=)
|
|
|
NM_032888.4(COL27A1):c.564C>T (p.Asp188=)
|
rs1188739966
|
|
NM_032888.4(COL27A1):c.570A>C (p.Ala190=)
|
|
|
NM_032888.4(COL27A1):c.574G>A (p.Asp192Asn)
|
|
|
NM_032888.4(COL27A1):c.576C>T (p.Asp192=)
|
rs2135074231
|
|
NM_032888.4(COL27A1):c.579T>C (p.Pro193=)
|
rs978575901
|
|
NM_032888.4(COL27A1):c.57C>G (p.Arg19=)
|
rs941086447
|
|
NM_032888.4(COL27A1):c.585C>A (p.Gly195=)
|
|
|
NM_032888.4(COL27A1):c.594C>T (p.Leu198=)
|
rs745604906
|
|
NM_032888.4(COL27A1):c.597T>C (p.Phe199=)
|
rs1450519152
|
|
NM_032888.4(COL27A1):c.60G>C (p.Gly20=)
|
rs758537611
|
|
NM_032888.4(COL27A1):c.612G>T (p.Pro204=)
|
|
|
NM_032888.4(COL27A1):c.62+12C>T
|
|
|
NM_032888.4(COL27A1):c.62+17G>T
|
|
|
NM_032888.4(COL27A1):c.62+20C>T
|
|
|
NM_032888.4(COL27A1):c.62+8C>G
|
|
|
NM_032888.4(COL27A1):c.62+9G>A
|
rs781496001
|
|
NM_032888.4(COL27A1):c.624G>A (p.Gln208=)
|
|
|
NM_032888.4(COL27A1):c.63-11C>G
|
|
|
NM_032888.4(COL27A1):c.63-16G>T
|
|
|
NM_032888.4(COL27A1):c.63-18G>T
|
|
|
NM_032888.4(COL27A1):c.63-4C>T
|
|
|
NM_032888.4(COL27A1):c.63-6C>A
|
|
|
NM_032888.4(COL27A1):c.63-9G>C
|
rs1848584596
|
|
NM_032888.4(COL27A1):c.633T>G (p.Gly211=)
|
|
|
NM_032888.4(COL27A1):c.636T>A (p.Ala212=)
|
|
|
NM_032888.4(COL27A1):c.663G>A (p.Val221=)
|
|
|
NM_032888.4(COL27A1):c.663G>C (p.Val221=)
|
rs2135075118
|
|
NM_032888.4(COL27A1):c.693C>T (p.His231=)
|
|
|
NM_032888.4(COL27A1):c.699G>A (p.Arg233=)
|
rs912387390
|
|
NM_032888.4(COL27A1):c.705G>A (p.Gln235=)
|
rs2135075621
|
|
NM_032888.4(COL27A1):c.723G>C (p.Thr241=)
|
rs574675570
|
|
NM_032888.4(COL27A1):c.723G>T (p.Thr241=)
|
|
|
NM_032888.4(COL27A1):c.732C>A (p.Ser244=)
|
rs757163848
|
|
NM_032888.4(COL27A1):c.735A>T (p.Pro245=)
|
|
|
NM_032888.4(COL27A1):c.750C>T (p.Phe250=)
|
rs1849051191
|
|
NM_032888.4(COL27A1):c.759C>T (p.Asp253=)
|
|
|
NM_032888.4(COL27A1):c.777C>A (p.Thr259=)
|
rs895361431
|
|
NM_032888.4(COL27A1):c.783G>A (p.Gln261=)
|
|
|
NM_032888.4(COL27A1):c.795C>T (p.Ala265=)
|
rs1429725386
|
|
NM_032888.4(COL27A1):c.796C>T (p.Leu266=)
|
rs2135076723
|
|
NM_032888.4(COL27A1):c.801A>G (p.Leu267=)
|
rs1424081505
|
|
NM_032888.4(COL27A1):c.814T>C (p.Leu272=)
|
|
|
NM_032888.4(COL27A1):c.828A>G (p.Thr276=)
|
rs2135077075
|
|
NM_032888.4(COL27A1):c.843A>T (p.Ser281=)
|
rs765917131
|
|
NM_032888.4(COL27A1):c.846G>A (p.Leu282=)
|
|
|
NM_032888.4(COL27A1):c.870G>A (p.Gly290=)
|
rs2135077472
|
|
NM_032888.4(COL27A1):c.873T>C (p.Thr291=)
|
rs1248874423
|
|
NM_032888.4(COL27A1):c.885C>A (p.Ala295=)
|
|
|
NM_032888.4(COL27A1):c.891C>T (p.Pro297=)
|
rs766440114
|
|
NM_032888.4(COL27A1):c.894C>A (p.Thr298=)
|
rs1849062545
|
|
NM_032888.4(COL27A1):c.897G>A (p.Lys299=)
|
|
|
NM_032888.4(COL27A1):c.903A>G (p.Gln301=)
|
rs2135078012
|
|
NM_032888.4(COL27A1):c.90C>G (p.Val30=)
|
|
|
NM_032888.4(COL27A1):c.90C>T (p.Val30=)
|
rs569764168
|
|
NM_032888.4(COL27A1):c.915C>A (p.Pro305=)
|
rs1197599768
|
|
NM_032888.4(COL27A1):c.918A>C (p.Thr306=)
|
|
|
NM_032888.4(COL27A1):c.921C>T (p.Asn307=)
|
|
|
NM_032888.4(COL27A1):c.930G>A (p.Gln310=)
|
rs2135078263
|
|
NM_032888.4(COL27A1):c.93G>A (p.Ser31=)
|
rs745344423
|
|
NM_032888.4(COL27A1):c.93G>T (p.Ser31=)
|
rs745344423
|
|
NM_032888.4(COL27A1):c.951A>G (p.Pro317=)
|
|
|
NM_032888.4(COL27A1):c.957A>G (p.Gln319=)
|
rs1849067227
|
|
NM_032888.4(COL27A1):c.969A>G (p.Leu323=)
|
|
|
NM_032888.4(COL27A1):c.981G>C (p.Leu327=)
|
|
|
NM_032888.4(COL27A1):c.996A>C (p.Ala332=)
|
|
|
NM_032888.4(COL27A1):c.99C>T (p.Ala33=)
|
rs2135027901
|
|