NM_004273.5(CHST3):c.*406G>A
|
rs80210009
|
0.01614
|
NM_004273.5(CHST3):c.*346C>T
|
rs76094341
|
0.00947
|
NM_004273.5(CHST3):c.*3306A>G
|
rs12250549
|
0.00836
|
NM_004273.5(CHST3):c.*274C>T
|
rs116508900
|
0.00804
|
NM_004273.5(CHST3):c.*4341C>A
|
rs12267478
|
0.00688
|
NM_004273.5(CHST3):c.*1009C>T
|
rs190763138
|
0.00583
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
NM_001844.5(COL2A1):c.*305G>A
|
rs532700241
|
0.00516
|
NM_004273.5(CHST3):c.*523A>G
|
rs189173490
|
0.00516
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_004273.5(CHST3):c.828C>T (p.Arg276=)
|
rs140547825
|
0.00397
|
NM_004273.5(CHST3):c.*2660C>T
|
rs143743853
|
0.00389
|
NM_004273.5(CHST3):c.*855A>C
|
rs181471425
|
0.00370
|
NM_004273.5(CHST3):c.*1130C>G
|
rs4148942
|
0.00369
|
NM_004273.5(CHST3):c.*856C>G
|
rs186004202
|
0.00369
|
NM_004273.5(CHST3):c.*290G>C
|
rs184330297
|
0.00296
|
NM_004273.5(CHST3):c.*981A>T
|
rs573670057
|
0.00258
|
NM_004273.5(CHST3):c.*3445G>A
|
rs185581202
|
0.00203
|
NM_004273.5(CHST3):c.*809C>T
|
rs145689465
|
0.00178
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)
|
rs184636110
|
0.00097
|
NM_004273.5(CHST3):c.*3571T>C
|
rs575592721
|
0.00094
|
NM_004273.5(CHST3):c.1251G>C (p.Thr417=)
|
rs140411224
|
0.00072
|
NM_004273.5(CHST3):c.*4450G>C
|
rs183731077
|
0.00066
|
NM_004273.5(CHST3):c.*469C>A
|
rs539699501
|
0.00066
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_001844.5(COL2A1):c.1366-13C>A
|
rs200984998
|
0.00055
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_004273.5(CHST3):c.-51G>A
|
rs202050418
|
0.00053
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001844.5(COL2A1):c.4074+12G>T
|
rs201312340
|
0.00046
|
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
|
rs137948104
|
0.00046
|
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)
|
rs533540496
|
0.00038
|
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)
|
rs150466838
|
0.00038
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_004273.5(CHST3):c.*4049C>A
|
rs192320139
|
0.00035
|
NM_004273.5(CHST3):c.*4495G>A
|
rs730721
|
0.00035
|
NM_004273.5(CHST3):c.*4865C>T
|
rs140500823
|
0.00035
|
NM_004273.5(CHST3):c.*4162A>G
|
rs551591119
|
0.00025
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_004273.5(CHST3):c.*1463G>T
|
rs529839491
|
0.00021
|
NM_004273.5(CHST3):c.*3022A>T
|
rs145507314
|
0.00021
|
NM_004273.5(CHST3):c.*4884C>G
|
rs886047185
|
0.00021
|
NM_212482.4(FN1):c.3199G>A (p.Val1067Met)
|
rs145483591
|
0.00021
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
NM_004273.5(CHST3):c.*3565A>G
|
rs151095465
|
0.00019
|
NM_004273.5(CHST3):c.*4534G>A
|
rs372116465
|
0.00019
|
NM_212482.4(FN1):c.141A>C (p.Gln47His)
|
rs145263539
|
0.00019
|
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser)
|
rs201136367
|
0.00019
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_004273.5(CHST3):c.*1664G>C
|
rs375960396
|
0.00016
|
NM_004273.5(CHST3):c.*2843_*2844del
|
rs886047178
|
0.00016
|
NM_004273.5(CHST3):c.*3131G>A
|
rs577353046
|
0.00016
|
NM_004273.5(CHST3):c.*4869G>A
|
rs773240688
|
0.00016
|
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg)
|
rs146898035
|
0.00016
|
NM_001844.5(COL2A1):c.*158C>A
|
rs867067070
|
0.00015
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)
|
rs565714281
|
0.00011
|
NM_004273.5(CHST3):c.*4498A>G
|
rs552578786
|
0.00010
|
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser)
|
rs145838840
|
0.00010
|
NM_212482.4(FN1):c.3130G>A (p.Val1044Met)
|
rs34043251
|
0.00010
|
NM_212482.4(FN1):c.869G>A (p.Arg290His)
|
rs150990682
|
0.00010
|
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)
|
rs376772481
|
0.00009
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
NM_004273.5(CHST3):c.*4336A>G
|
rs569758444
|
0.00009
|
NM_004273.5(CHST3):c.*4409C>T
|
rs754282055
|
0.00009
|
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys)
|
rs765428225
|
0.00009
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_004273.5(CHST3):c.*1091G>T
|
rs886047167
|
0.00007
|
NM_004273.5(CHST3):c.-265C>G
|
rs371903365
|
0.00007
|
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser)
|
rs199764052
|
0.00007
|
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile)
|
rs201181695
|
0.00007
|
NM_001844.5(COL2A1):c.*373G>C
|
rs990523451
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_004273.5(CHST3):c.*1042C>G
|
rs886047165
|
0.00006
|
NM_004273.5(CHST3):c.*3857G>A
|
rs537395654
|
0.00006
|
NM_004273.5(CHST3):c.*887A>G
|
rs555113303
|
0.00006
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser)
|
rs532827189
|
0.00006
|
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly)
|
rs199941833
|
0.00006
|
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys)
|
rs372237449
|
0.00006
|
NM_212482.4(FN1):c.6157+4T>C
|
rs779209474
|
0.00006
|
NM_212482.4(FN1):c.862G>A (p.Asp288Asn)
|
rs200731330
|
0.00006
|
NM_001844.5(COL2A1):c.1680+8G>T
|
rs754310324
|
0.00005
|
NM_001844.5(COL2A1):c.1680+9C>A
|
rs371857655
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
NM_004273.5(CHST3):c.*1621C>G
|
rs768478124
|
0.00005
|
NM_004273.5(CHST3):c.-131G>A
|
rs886047158
|
0.00005
|
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)
|
rs777858428
|
0.00005
|
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp)
|
rs376754454
|
0.00005
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
NM_004273.5(CHST3):c.*3905C>T
|
rs886047181
|
0.00004
|
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser)
|
rs181283286
|
0.00004
|
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile)
|
rs370342980
|
0.00004
|
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu)
|
rs751026014
|
0.00004
|
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys)
|
rs200891393
|
0.00004
|
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val)
|
rs370180533
|
0.00004
|
NM_212482.4(FN1):c.6002G>A (p.Arg2001His)
|
rs749462589
|
0.00004
|
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val)
|
rs1330217896
|
0.00004
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)
|
rs745633496
|
0.00003
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
|
rs2276459
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)
|
rs1400762548
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_004273.5(CHST3):c.*1698C>G
|
rs377338550
|
0.00003
|
NM_004273.5(CHST3):c.*3245G>A
|
rs545967470
|
0.00003
|
NM_004273.5(CHST3):c.*410C>T
|
rs886047160
|
0.00003
|
NM_004273.5(CHST3):c.*4821G>A
|
rs886047184
|
0.00003
|
NM_004273.5(CHST3):c.*812G>A
|
rs886047162
|
0.00003
|
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)
|
rs368468468
|
0.00003
|
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg)
|
rs138219703
|
0.00003
|
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp)
|
rs748276504
|
0.00003
|
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr)
|
rs766780476
|
0.00003
|
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu)
|
rs923283804
|
0.00003
|
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu)
|
rs375667567
|
0.00003
|
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu)
|
rs755984905
|
0.00003
|
NM_001844.5(COL2A1):c.*331G>A
|
rs1227723645
|
0.00002
|
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)
|
rs756360655
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
NM_004273.5(CHST3):c.*1053A>T
|
rs886047166
|
0.00002
|
NM_004273.5(CHST3):c.*4210T>C
|
rs559945769
|
0.00002
|
NM_212482.4(FN1):c.592G>A (p.Gly198Arg)
|
rs561607931
|
0.00002
|
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile)
|
rs149294265
|
0.00002
|
NM_212482.4(FN1):c.790G>A (p.Gly264Ser)
|
rs950443871
|
0.00002
|
NM_212482.4(FN1):c.907C>T (p.Pro303Ser)
|
rs750138959
|
0.00002
|
NM_001844.5(COL2A1):c.-15G>T
|
rs886049450
|
0.00001
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)
|
rs371440147
|
0.00001
|
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)
|
rs1431778644
|
0.00001
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
NM_001844.5(COL2A1):c.1941+18C>T
|
rs753819738
|
0.00001
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val)
|
rs762619684
|
0.00001
|
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)
|
rs570320774
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.3111+5G>A
|
rs1429492734
|
0.00001
|
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)
|
rs371635111
|
0.00001
|
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)
|
rs886049446
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)
|
rs374156023
|
0.00001
|
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
|
rs779252535
|
0.00001
|
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)
|
rs891008017
|
0.00001
|
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
|
rs202105427
|
0.00001
|
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)
|
rs754466377
|
0.00001
|
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
|
rs1481212897
|
0.00001
|
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)
|
rs928430270
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
NM_004273.5(CHST3):c.*1244G>T
|
rs886047168
|
0.00001
|
NM_004273.5(CHST3):c.*1256G>A
|
rs886047169
|
0.00001
|
NM_004273.5(CHST3):c.*1536G>A
|
rs376062544
|
0.00001
|
NM_004273.5(CHST3):c.*1960G>A
|
rs886047172
|
0.00001
|
NM_004273.5(CHST3):c.*2226A>G
|
rs886047175
|
0.00001
|
NM_004273.5(CHST3):c.*2592C>T
|
rs886047176
|
0.00001
|
NM_004273.5(CHST3):c.*4628A>C
|
rs886047182
|
0.00001
|
NM_004273.5(CHST3):c.*544C>T
|
rs886047161
|
0.00001
|
NM_004273.5(CHST3):c.*851T>C
|
rs886047163
|
0.00001
|
NM_004273.5(CHST3):c.543C>T (p.Ala181=)
|
rs778478785
|
0.00001
|
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln)
|
rs376696206
|
0.00001
|
NM_212482.4(FN1):c.2429C>T (p.Ala810Val)
|
rs568343071
|
0.00001
|
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val)
|
rs80101897
|
0.00001
|
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala)
|
rs770129874
|
0.00001
|
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser)
|
rs2059079828
|
0.00001
|
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile)
|
rs201469351
|
0.00001
|
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg)
|
rs760993609
|
0.00001
|
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg)
|
rs764285223
|
0.00001
|
NM_212482.4(FN1):c.5602G>A (p.Val1868Met)
|
rs369072643
|
0.00001
|
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu)
|
rs145946514
|
0.00001
|
NM_212482.4(FN1):c.5735G>A (p.Arg1912His)
|
rs775421803
|
0.00001
|
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn)
|
rs201097962
|
0.00001
|
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter)
|
rs754396418
|
0.00001
|
NM_212482.4(FN1):c.665G>A (p.Arg222His)
|
rs778971356
|
0.00001
|
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile)
|
rs751303604
|
0.00001
|
NM_212482.4(FN1):c.749A>C (p.Asp250Ala)
|
rs372163398
|
0.00001
|
NM_001011658.4(TRAPPC2):c.*263dup
|
rs1057515794
|
|
NM_001011658.4(TRAPPC2):c.*266_*267insT
|
rs1057515793
|
|
NM_001011658.4(TRAPPC2):c.*950_*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT
|
rs1057515790
|
|
NM_001205.3(BNIP1):c.84+3A>T
|
rs2113831423
|
|
NM_001844.5(COL2A1):c.*120C>G
|
rs886049443
|
|
NM_001844.5(COL2A1):c.*131C>T
|
rs886049442
|
|
NM_001844.5(COL2A1):c.*406A>G
|
rs886049441
|
|
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)
|
rs886049448
|
|
NM_001844.5(COL2A1):c.1068+4del
|
rs2136590056
|
|
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.12C>T (p.Leu4=)
|
rs886049449
|
|
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
|
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
NM_001844.5(COL2A1):c.1581+4_1581+7del
|
rs1565682292
|
|
NM_001844.5(COL2A1):c.1734+4del
|
rs2136566434
|
|
NM_001844.5(COL2A1):c.1995+5G>A
|
rs1449516565
|
|
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)
|
rs1939177362
|
|
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.2410-13T>G
|
rs574507277
|
|
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)
|
rs886042009
|
|
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
|
rs1938961773
|
|
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln)
|
rs2136534972
|
|
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)
|
rs1398589070
|
|
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)
|
rs777615798
|
|
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
|
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
|
|
|
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)
|
rs1555164786
|
|
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)
|
rs886049445
|
|
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)
|
rs1347381176
|
|
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)
|
rs886049444
|
|
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)
|
rs1555164561
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4317+9G>C
|
rs1938570357
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
|
|
|
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)
|
rs958614345
|
|
NM_001844.5(COL2A1):c.532-3C>A
|
rs755887776
|
|
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
|
|
|
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
|
|
|
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)
|
rs2136616123
|
|
NM_001844.5(COL2A1):c.924+14A>C
|
rs1475810942
|
|
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp)
|
|
|
NM_001844.5(COL2A1):c.970-6T>C
|
|
|
NM_004273.5(CHST3):c.*1088A>G
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1088A>T
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1090G>A
|
rs148125052
|
|
NM_004273.5(CHST3):c.*1184C>G
|
rs187692473
|
|
NM_004273.5(CHST3):c.*1185C>G
|
rs373515105
|
|
NM_004273.5(CHST3):c.*1399T>C
|
rs562405951
|
|
NM_004273.5(CHST3):c.*1404C>G
|
rs886047170
|
|
NM_004273.5(CHST3):c.*1584T>G
|
rs886047171
|
|
NM_004273.5(CHST3):c.*2178G>T
|
rs886047174
|
|
NM_004273.5(CHST3):c.*238G>A
|
rs543236876
|
|
NM_004273.5(CHST3):c.*2656A>G
|
rs886047177
|
|
NM_004273.5(CHST3):c.*3167G>A
|
rs886047179
|
|
NM_004273.5(CHST3):c.*3384G>A
|
rs886047180
|
|
NM_004273.5(CHST3):c.*4609G>A
|
rs552018988
|
|
NM_004273.5(CHST3):c.*4820C>T
|
rs886047183
|
|
NM_004273.5(CHST3):c.*922C>T
|
rs886047164
|
|
NM_004273.5(CHST3):c.-108+6T>G
|
rs886047159
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly)
|
rs766145797
|
|
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)
|
rs199515173
|
|
NM_004273.5(CHST3):c.886G>C (p.Val296Leu)
|
rs762224143
|
|
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu)
|
rs761729774
|
|
NM_212482.4(FN1):c.1481T>C (p.Met494Thr)
|
rs2064511350
|
|
NM_212482.4(FN1):c.1888T>G (p.Trp630Gly)
|
rs2106350896
|
|
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg)
|
rs770505069
|
|
NM_212482.4(FN1):c.2299+3A>T
|
rs2062278053
|
|
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)
|
rs1553636502
|
|
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
|
|
|
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr)
|
rs144581583
|
|
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu)
|
rs1334066739
|
|
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu)
|
rs202245868
|
|
NM_212482.4(FN1):c.5164+3A>G
|
rs2105944563
|
|
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs)
|
rs771111687
|
|
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys)
|
rs759085028
|
|
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del)
|
rs1278884339
|
|